#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
AURKAIP1	54998	broad.mit.edu	37	1	1309389	1309389	+	Silent	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:1309389T>C	ENST00000338370.3	-	2	889	c.489A>G	c.(487-489)agA>agG	p.R163R	AURKAIP1_ENST00000338338.5_Silent_p.R163R|AURKAIP1_ENST00000378853.3_Silent_p.R163R|AURKAIP1_ENST00000321751.5_Silent_p.R163R|AURKAIP1_ENST00000489799.1_5'Flank			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	163					negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R163R(1)		kidney(1)|lung(2)	3	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;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCTGCTTGCGTCTCAGGCGTC	0.602																																							uc001afb.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(487-489)AGA>AGG		aurora kinase A interacting protein 1							79.0	76.0	77.0					1																	1309389		2203	4296	6499	SO:0001819	synonymous_variant	54998				negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding	g.chr1:1309389T>C		CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.489A>G	1.37:g.1309389T>C						AURKAIP1_uc001afc.2_Silent_p.R163R|AURKAIP1_uc001afd.2_Silent_p.R163R|AURKAIP1_uc009vkb.1_Silent_p.R163R	p.R163R	NM_017900	NP_060370	Q9NWT8	AKIP_HUMAN		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	599	-	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)	163					Q5TA36|Q8TBD3	Silent	SNP	ENST00000338370.3	37	c.489A>G	CCDS25.1																																																																																				0.602	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008273.1	NM_017900		25	78	0	0	0	0.003954	0	25	78				
IGSF21	84966	broad.mit.edu	37	1	18691759	18691759	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:18691759C>A	ENST00000251296.1	+	6	966	c.583C>A	c.(583-585)Cta>Ata	p.L195I		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	195						extracellular region (GO:0005576)		p.L195I(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CGCAGTGCCCCTATCAGAGCC	0.547																																							uc001bau.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(583-585)CTA>ATA		immunoglobin superfamily, member 21 precursor							52.0	55.0	54.0					1																	18691759		2203	4300	6503	SO:0001583	missense	84966					extracellular region		g.chr1:18691759C>A	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.583C>A	1.37:g.18691759C>A	ENSP00000251296:p.Leu195Ile					IGSF21_uc001bav.1_Missense_Mutation_p.L16I	p.L195I	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	6	966	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	195					Q8NBR8	Missense_Mutation	SNP	ENST00000251296.1	37	c.583C>A	CCDS184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.903|5.903	0.350674|0.350674	0.11182|0.11182	.|.	.|.	ENSG00000117154|ENSG00000117154	ENST00000251296|ENST00000412684	T|D	0.29655|0.87256	1.56|-2.23	4.76|4.76	-0.532|-0.532	0.11890|0.11890	.|.	0.297579|.	0.33180|.	N|.	0.005189|.	T|T	0.74718|0.74718	0.3753|0.3753	N|N	0.24115|0.24115	0.695|0.695	0.31402|0.31402	N|N	0.676502|0.676502	B|.	0.15719|.	0.014|.	B|.	0.20955|.	0.032|.	T|T	0.65990|0.65990	-0.6034|-0.6034	10|7	0.21014|0.33141	T|T	0.42|0.24	-18.0648|-18.0648	1.5295|1.5295	0.02532|0.02532	0.1347:0.4215:0.1312:0.3126|0.1347:0.4215:0.1312:0.3126	.|.	195|.	Q96ID5|.	IGS21_HUMAN|.	I|H	195|147	ENSP00000251296:L195I|ENSP00000388681:P147H	ENSP00000251296:L195I|ENSP00000388681:P147H	L|P	+|+	1|2	2|0	IGSF21|IGSF21	18564346|18564346	0.039000|0.039000	0.19947|0.19947	0.001000|0.001000	0.08648|0.08648	0.016000|0.016000	0.09150|0.09150	0.785000|0.785000	0.26830|0.26830	-0.306000|-0.306000	0.08818|0.08818	-0.254000|-0.254000	0.11334|0.11334	CTA|CCT		0.547	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		16	77	1	0	1.5739e-10	0.004007	2.10313e-10	16	77				
SCP2	6342	broad.mit.edu	37	1	53446082	53446082	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:53446082G>A	ENST00000528311.1	+	9	893	c.597G>A	c.(595-597)atG>atA	p.M199I	SCP2_ENST00000407246.2_Missense_Mutation_p.M256I|SCP2_ENST00000473584.1_3'UTR|SCP2_ENST00000371513.5_Missense_Mutation_p.M236I|SCP2_ENST00000371509.4_Missense_Mutation_p.M236I|SCP2_ENST00000371514.3_Missense_Mutation_p.M280I	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)	p.M280I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GCTTTGATATGAGTAAAGAAG	0.353																																							uc001cur.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(838-840)ATG>ATA		sterol carrier protein 2 isoform 1 proprotein							110.0	114.0	112.0					1																	53446082		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.chr1:53446082G>A	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.597G>A	1.37:g.53446082G>A	ENSP00000434132:p.Met199Ile					SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_Missense_Mutation_p.M199I|SCP2_uc010onp.1_Missense_Mutation_p.M256I|SCP2_uc009vzi.1_Missense_Mutation_p.M236I|SCP2_uc001cuq.1_Missense_Mutation_p.M236I	p.M280I	NM_002979	NP_002970	P22307	NLTP_HUMAN			10	961	+			280					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	c.840G>A	CCDS53319.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370344	0.61624	.	.	ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000371513	D;T;D;D;D	0.86366	-1.57;-0.34;-1.57;-1.57;-2.11	5.58	3.68	0.42216	.	0.000000	0.85682	D	0.000000	D	0.90448	0.7009	L	0.54965	1.715	0.80722	D	1	D;D;P;D	0.63046	0.971;0.992;0.932;0.983	P;D;P;D	0.65773	0.902;0.938;0.718;0.938	D	0.91151	0.4953	10	0.72032	D	0.01	-14.2706	12.8694	0.57957	0.1416:0.0:0.8584:0.0	.	256;236;280;236	C9JC79;A6NM69;P22307;Q6NXF4	.;.;NLTP_HUMAN;.	I	280;199;236;256;236	ENSP00000360569:M280I;ENSP00000434132:M199I;ENSP00000360564:M236I;ENSP00000384569:M256I;ENSP00000360568:M236I	ENSP00000360564:M236I	M	+	3	0	SCP2	53218670	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.826000	0.69293	1.494000	0.48533	0.591000	0.81541	ATG		0.353	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1	NM_002979		25	94	0	0	0	0.00632	0	25	94				
CACHD1	57685	broad.mit.edu	37	1	65098409	65098409	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:65098409A>G	ENST00000371073.2	+	6	772	c.772A>G	c.(772-774)Atc>Gtc	p.I258V	CACHD1_ENST00000290039.5_Missense_Mutation_p.I207V|CACHD1_ENST00000495994.1_Intron			Q5VU97	CAHD1_HUMAN	cache domain containing 1	258	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.I207V(1)		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						CCTCAGCGCCATCGATGAACA	0.473																																							uc001dbo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(619-621)ATC>GTC		cache domain containing 1							96.0	96.0	96.0					1																	65098409		2110	4230	6340	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65098409A>G	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.772A>G	1.37:g.65098409A>G	ENSP00000360113:p.Ile258Val					CACHD1_uc001dbp.1_Intron|CACHD1_uc001dbq.1_5'UTR	p.I207V	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN			6	724	+			258			Extracellular (Potential).|VWFA.		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.619A>G		.	.	.	.	.	.	.	.	.	.	A	13.89	2.370875	0.42003	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.22539	1.95;1.95	5.67	5.67	0.87782	von Willebrand factor, type A (2);	0.090057	0.85682	D	0.000000	T	0.08492	0.0211	N	0.19112	0.55	0.58432	D	0.999994	B	0.13594	0.008	B	0.14578	0.011	T	0.06162	-1.0842	10	0.87932	D	0	-29.9662	15.9204	0.79562	1.0:0.0:0.0:0.0	.	258	Q5VU97	CAHD1_HUMAN	V	258;207	ENSP00000360113:I258V;ENSP00000290039:I207V	ENSP00000290039:I207V	I	+	1	0	CACHD1	64870997	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	5.937000	0.70162	2.164000	0.68074	0.533000	0.62120	ATC		0.473	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		8	62	0	0	0	0.006214	0	8	62				
ANKRD13C	81573	broad.mit.edu	37	1	70819936	70819936	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:70819936C>T	ENST00000370944.4	-	1	469	c.156G>A	c.(154-156)aaG>aaA	p.K52K	HHLA3_ENST00000432224.1_5'Flank|HHLA3_ENST00000370940.5_5'Flank|HHLA3_ENST00000359875.5_5'Flank|HHLA3_ENST00000531950.1_5'Flank|HHLA3_ENST00000361764.4_5'Flank|ANKRD13C_ENST00000262346.6_Silent_p.K52K	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	52					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.K52K(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TACTGAAGATCTTATGACAAG	0.632																																							uc001dex.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(154-156)AAG>AAA		ankyrin repeat domain 13C							104.0	117.0	113.0					1																	70819936		2203	4300	6503	SO:0001819	synonymous_variant	81573				protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	g.chr1:70819936C>T		CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.156G>A	1.37:g.70819936C>T						ANKRD13C_uc009wbk.2_Silent_p.K52K|ANKRD13C_uc001dey.3_Silent_p.K52K|HHLA3_uc010oqp.1_5'Flank|HHLA3_uc001dfa.2_5'Flank|HHLA3_uc001dfb.2_5'Flank|HHLA3_uc001dfc.2_5'Flank	p.K52K	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN			1	482	-			52					B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Silent	SNP	ENST00000370944.4	37	c.156G>A	CCDS648.2																																																																																				0.632	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1	NM_030816		28	170	0	0	0	0.00632	0	28	170				
AGL	178	broad.mit.edu	37	1	100356810	100356810	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:100356810G>T	ENST00000294724.4	+	22	3325	c.2847G>T	c.(2845-2847)aaG>aaT	p.K949N	AGL_ENST00000361302.3_Missense_Mutation_p.K933N|AGL_ENST00000370161.2_Missense_Mutation_p.K933N|AGL_ENST00000361915.3_Missense_Mutation_p.K949N|AGL_ENST00000361522.4_Missense_Mutation_p.K932N|AGL_ENST00000370165.3_Missense_Mutation_p.K949N|AGL_ENST00000370163.3_Missense_Mutation_p.K949N	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	949					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.K949N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TAAGACCAAAGAATGACTTGG	0.368																																							uc001dsi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2845-2847)AAG>AAT		amylo-1,6-glucosidase,							94.0	96.0	95.0					1																	100356810		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100356810G>T	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2847G>T	1.37:g.100356810G>T	ENSP00000294724:p.Lys949Asn					AGL_uc001dsj.1_Missense_Mutation_p.K949N|AGL_uc001dsk.1_Missense_Mutation_p.K949N|AGL_uc001dsl.1_Missense_Mutation_p.K949N|AGL_uc001dsm.1_Missense_Mutation_p.K933N|AGL_uc001dsn.1_Missense_Mutation_p.K932N	p.K949N	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	22	3247	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	949			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.2847G>T	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397212	0.25205	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.71	3.84	0.44239	.	0.204853	0.51477	D	0.000090	T	0.07052	0.0179	N	0.25201	0.72	0.50313	D	0.999869	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.15009	-1.0452	10	0.07644	T	0.81	.	12.2983	0.54860	0.1377:0.0:0.8623:0.0	.	932;933;949	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	N	949;949;949;949;933;933;932	ENSP00000355106:K949N;ENSP00000359184:K949N;ENSP00000359182:K949N;ENSP00000294724:K949N;ENSP00000354971:K933N;ENSP00000359180:K933N;ENSP00000354635:K932N	ENSP00000294724:K949N	K	+	3	2	AGL	100129398	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.112000	0.41892	0.768000	0.33290	0.579000	0.79373	AAG		0.368	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		18	54	1	0	5.3912e-06	0.006122	6.38285e-06	18	54				
RNF115	27246	broad.mit.edu	37	1	145663206	145663206	+	Silent	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:145663206C>G	ENST00000369291.5	+	4	471	c.267C>G	c.(265-267)ccC>ccG	p.P89P		NM_014455.2	NP_055270.1			ring finger protein 115									p.P89P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						ATTTTAGACCCTTTCTAAGTA	0.428																																							uc001eoj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(265-267)CCC>CCG		Rabring 7							100.0	96.0	97.0					1																	145663206		2203	4300	6503	SO:0001819	synonymous_variant	27246				protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:145663206C>G	AF419857	CCDS72863.1	1q12	2013-01-09	2008-06-16	2008-06-16	ENSG00000121848	ENSG00000265491		"""RING-type (C3HC4) zinc fingers"""	18154	protein-coding gene	gene with protein product			"""zinc finger protein 364"""	ZNF364			Standard	NM_014455		Approved	CL469780	uc001eoj.3	Q9Y4L5	OTTHUMG00000013758	ENST00000369291.5:c.267C>G	1.37:g.145663206C>G						NBPF10_uc001emp.3_Intron|RNF115_uc001eok.2_Silent_p.P56P|RNF115_uc009wiy.2_Silent_p.P8P	p.P89P	NM_014455	NP_055270	Q9Y4L5	RN115_HUMAN			4	471	+			89						Silent	SNP	ENST00000369291.5	37	c.267C>G	CCDS922.1																																																																																				0.428	RNF115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038554.2	NM_014455		17	53	0	0	0	0.007413	0	17	53				
FLG	2312	broad.mit.edu	37	1	152276956	152276956	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:152276956G>T	ENST00000368799.1	-	3	10441	c.10406C>A	c.(10405-10407)tCc>tAc	p.S3469Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3469	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)	p.S3469Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTCCCTGGGATGTGGTGTG	0.572									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(10405-10407)TCC>TAC		filaggrin							289.0	282.0	284.0					1																	152276956		2203	4296	6499	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.chr1:152276956G>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.10406C>A	1.37:g.152276956G>T	ENSP00000357789:p.Ser3469Tyr						p.S3469Y	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10442	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3469			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.10406C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.237942	0.22711	.	.	ENSG00000143631	ENST00000368799	T	0.03801	3.8	3.18	-1.55	0.08558	.	.	.	.	.	T	0.06962	0.0177	M	0.79805	2.47	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.08785	-1.0705	9	0.45353	T	0.12	.	3.7153	0.08435	0.3639:0.186:0.4501:0.0	.	3469	P20930	FILA_HUMAN	Y	3469	ENSP00000357789:S3469Y	ENSP00000357789:S3469Y	S	-	2	0	FLG	150543580	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	0.016000	0.13377	-0.715000	0.04968	0.398000	0.26397	TCC		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		105	481	1	0	3.0473e-41	0.00361	4.73679e-41	105	481				
RIT1	6016	broad.mit.edu	37	1	155874261	155874261	+	Missense_Mutation	SNP	C	C	A	rs483352822		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:155874261C>A	ENST00000368323.3	-	5	474	c.270G>T	c.(268-270)atG>atT	p.M90I	RIT1_ENST00000368322.3_Missense_Mutation_p.M107I|RIT1_ENST00000539040.1_Missense_Mutation_p.M54I	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	90			M -> I (probable disease-associated mutation found in patients with features of Noonan syndrome). {ECO:0000269|PubMed:23791108}.		GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)	p.M90I(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CTCCTGCCCTCATATACTGGT	0.433																																							uc001fmh.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(268-270)ATG>ATT		Ras-like without CAAX 1							97.0	81.0	86.0					1																	155874261		2203	4300	6503	SO:0001583	missense	6016				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr1:155874261C>A	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.270G>T	1.37:g.155874261C>A	ENSP00000357306:p.Met90Ile					RIT1_uc010pgr.1_Missense_Mutation_p.M54I	p.M90I	NM_006912	NP_008843	Q92963	RIT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)		5	457	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		90					B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	ENST00000368323.3	37	c.270G>T	CCDS1123.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605796	0.87157	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	T;T;T	0.76186	-1.0;-1.0;-1.0	5.76	5.76	0.90799	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.70527	0.3234	N	0.05619	-0.005	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.77739	-0.2475	10	0.54805	T	0.06	.	19.5715	0.95421	0.0:1.0:0.0:0.0	.	90	Q92963	RIT1_HUMAN	I	90;54;107	ENSP00000357306:M90I;ENSP00000441950:M54I;ENSP00000357305:M107I	ENSP00000357305:M107I	M	-	3	0	RIT1	154140885	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.346000	0.72999	2.733000	0.93635	0.467000	0.42956	ATG		0.433	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912		11	44	1	0	0.00136819	0.001368	0.00149585	11	44				
RIT1	6016	broad.mit.edu	37	1	155880281	155880281	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:155880281G>A	ENST00000368323.3	-	3	327	c.123C>T	c.(121-123)ttC>ttT	p.F41F	RIT1_ENST00000368322.3_Silent_p.F58F|RIT1_ENST00000539040.1_Silent_p.F5F	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	41					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)	p.F41F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GGTGGCTGATGAACTGCATGG	0.368																																							uc001fmh.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(121-123)TTC>TTT		Ras-like without CAAX 1							132.0	127.0	129.0					1																	155880281		2203	4300	6503	SO:0001819	synonymous_variant	6016				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr1:155880281G>A	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.123C>T	1.37:g.155880281G>A						RIT1_uc010pgr.1_Silent_p.F5F	p.F41F	NM_006912	NP_008843	Q92963	RIT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)		3	310	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		41					B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Silent	SNP	ENST00000368323.3	37	c.123C>T	CCDS1123.1																																																																																				0.368	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912		8	60	0	0	0	0.00308	0	8	60				
INSRR	3645	broad.mit.edu	37	1	156814999	156814999	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:156814999C>A	ENST00000368195.3	-	12	2702	c.2306G>T	c.(2305-2307)cGt>cTt	p.R769L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	769					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R769L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGCTCGCTCACGGGGCACCTT	0.706																																							uc010pht.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20						c.(2305-2307)CGT>CTT		insulin receptor-related receptor precursor							24.0	21.0	22.0					1																	156814999		2202	4300	6502	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156814999C>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2306G>T	1.37:g.156814999C>A	ENSP00000357178:p.Arg769Leu					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	p.R769L	NM_014215	NP_055030	P14616	INSRR_HUMAN			12	2560	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		769			Extracellular (Potential).		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.2306G>T	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.740750	0.49045	.	.	ENSG00000027644	ENST00000368195	T	0.55588	0.51	4.35	4.35	0.52113	Fibronectin, type III (2);	0.000000	0.38897	N	0.001523	T	0.26231	0.0640	.	.	.	0.34984	D	0.754379	B	0.13145	0.007	B	0.13407	0.009	T	0.16247	-1.0409	9	0.44086	T	0.13	.	10.921	0.47165	0.1876:0.8124:0.0:0.0	.	769	P14616	INSRR_HUMAN	L	769	ENSP00000357178:R769L	ENSP00000357178:R769L	R	-	2	0	INSRR	155081623	0.983000	0.35010	0.999000	0.59377	0.965000	0.64279	2.644000	0.46613	2.251000	0.74343	0.561000	0.74099	CGT		0.706	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		4	22	1	0	0.00024832	0.009096	0.000281594	4	22				
CD5L	922	broad.mit.edu	37	1	157804207	157804207	+	Silent	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:157804207G>C	ENST00000368174.4	-	4	804	c.708C>G	c.(706-708)gtC>gtG	p.V236V	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	236	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.V236V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTTCACATTCGACCCACGTGT	0.458																																							uc001frk.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(706-708)GTC>GTG		CD5 molecule-like precursor							45.0	39.0	41.0					1																	157804207		2203	4300	6503	SO:0001819	synonymous_variant	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804207G>C	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.708C>G	1.37:g.157804207G>C							p.V236V	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	851	-	all_hematologic(112;0.0378)		236			SRCR 2.		A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	c.708C>G	CCDS1171.1																																																																																				0.458	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		3	22	0	0	0	0.009096	0	3	22				
SPTA1	6708	broad.mit.edu	37	1	158596722	158596722	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:158596722C>A	ENST00000368147.4	-	41	5920	c.5740G>T	c.(5740-5742)Gct>Tct	p.A1914S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1914					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A1914S(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATTGCCTTAGCCAGAGAAGGG	0.443																																							uc001fst.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(5740-5742)GCT>TCT		spectrin, alpha, erythrocytic 1							167.0	164.0	165.0					1																	158596722		1862	4101	5963	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158596722C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5740G>T	1.37:g.158596722C>A	ENSP00000357129:p.Ala1914Ser						p.A1914S	NM_003126	NP_003117	P02549	SPTA1_HUMAN			41	5939	-	all_hematologic(112;0.0378)		1914			Spectrin 18.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5740G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	9.653	1.142068	0.21205	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.48201	0.82;0.82	5.41	2.47	0.30058	.	0.947758	0.08553	N	0.928705	T	0.13500	0.0327	N	0.24115	0.695	0.32242	N	0.57258	B	0.17038	0.02	B	0.18871	0.023	T	0.19647	-1.0299	10	0.15499	T	0.54	.	8.9197	0.35604	0.2638:0.6654:0.0:0.0709	.	1914	P02549	SPTA1_HUMAN	S	1914;1911	ENSP00000357130:A1914S;ENSP00000357129:A1911S	ENSP00000357129:A1911S	A	-	1	0	SPTA1	156863346	1.000000	0.71417	0.214000	0.23707	0.974000	0.67602	2.250000	0.43178	0.381000	0.24851	0.563000	0.77884	GCT		0.443	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		35	186	1	0	3.90053e-15	0.002445	5.55309e-15	35	186				
CADM3	57863	broad.mit.edu	37	1	159169551	159169551	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:159169551G>T	ENST00000368125.4	+	8	1120	c.963G>T	c.(961-963)ccG>ccT	p.P321P	CTA-134P22.2_ENST00000609696.1_RNA|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Silent_p.P355P	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	321					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.V356fs*45(1)|p.P355P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ACCCCAGTCCGGTGCCCTCCT	0.527																																							uc001ftl.2		NA																	2	Substitution - coding silent(1)|Insertion - Frameshift(1)		lung(2)	ovary(2)	2						c.(961-963)CCG>CCT		cell adhesion molecule 3 isoform 2							158.0	128.0	138.0					1																	159169551		2203	4300	6503	SO:0001819	synonymous_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159169551G>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.963G>T	1.37:g.159169551G>T						CADM3_uc001ftk.2_Silent_p.P355P|uc001ftm.1_Intron	p.P321P	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN			8	1105	+	all_hematologic(112;0.0429)		321			Extracellular (Potential).		Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.963G>T	CCDS44251.1																																																																																				0.527	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		11	60	1	0	4.93089e-13	0.00245	6.82854e-13	11	60				
ACKR1	2532	broad.mit.edu	37	1	159175986	159175986	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:159175986T>C	ENST00000368122.2	+	2	1436	c.757T>C	c.(757-759)Tgg>Cgg	p.W253R	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000368121.2_Missense_Mutation_p.W255R|DARC_ENST00000537147.1_Missense_Mutation_p.W253R	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		253					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.W255R(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GTTTATTTTCTGGTGGCCTCA	0.552																																							uc001fto.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(757-759)TGG>CGG		Duffy blood group antigen isoform b							108.0	108.0	108.0					1																	159175986		2203	4300	6503	SO:0001583	missense	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175986T>C																												ENST00000368122.2:c.757T>C	1.37:g.159175986T>C	ENSP00000357104:p.Trp253Arg					DARC_uc001ftp.3_Missense_Mutation_p.W255R	p.W253R	NM_002036	NP_002027	Q16570	DUFFY_HUMAN			2	997	+	all_hematologic(112;0.0429)		253			Helical; Name=6; (Potential).		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Missense_Mutation	SNP	ENST00000368122.2	37	c.757T>C	CCDS1183.1	.	.	.	.	.	.	.	.	.	.	T	19.91	3.915361	0.73098	.	.	ENSG00000213088	ENST00000368122;ENST00000537147;ENST00000359381;ENST00000368121	T;T;T	0.54479	0.57;0.57;0.57	5.51	5.51	0.81932	.	0.000000	0.30538	U	0.009404	T	0.56978	0.2022	L	0.47190	1.495	0.36774	D	0.883947	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64643	-0.6359	10	0.87932	D	0	-12.7669	12.3052	0.54898	0.0:0.0:0.0:1.0	.	255;253	Q5Y7A1;Q16570	.;DUFFY_HUMAN	R	253;253;253;255	ENSP00000357104:W253R;ENSP00000441985:W253R;ENSP00000357103:W255R	ENSP00000352341:W253R	W	+	1	0	DARC	157442610	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.759000	0.55227	2.217000	0.71921	0.533000	0.62120	TGG		0.552	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			31	123	0	0	0	0.002096	0	31	123				
VANGL2	57216	broad.mit.edu	37	1	160385936	160385936	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:160385936C>A	ENST00000368061.2	+	3	630	c.156C>A	c.(154-156)ccC>ccA	p.P52P		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	52					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)		p.P52P(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCGGGGAGCCCCTGCTGGACA	0.662																																							uc001fwb.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(154-156)CCC>CCA		vang-like 2							37.0	43.0	41.0					1																	160385936		2203	4300	6503	SO:0001819	synonymous_variant	57216				apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		g.chr1:160385936C>A	AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.156C>A	1.37:g.160385936C>A						VANGL2_uc001fwc.1_Silent_p.P52P	p.P52P	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		4	455	+	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		52			Cytoplasmic (Potential).		D3DVE9|Q5T212	Silent	SNP	ENST00000368061.2	37	c.156C>A	CCDS30915.1																																																																																				0.662	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080677.1	NM_020335		9	59	1	0	0.000442599	0.006214	0.000496973	9	59				
HMCN1	83872	broad.mit.edu	37	1	186023062	186023062	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:186023062G>T	ENST00000271588.4	+	44	7035	c.6806G>T	c.(6805-6807)tGt>tTt	p.C2269F	HMCN1_ENST00000367492.2_Missense_Mutation_p.C2269F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2269	Ig-like C2-type 20.				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)	p.C2269F(1)		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						CTCTATTCATGTGTGGCGTCG	0.418																																							uc001grq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(6805-6807)TGT>TTT		hemicentin 1 precursor							110.0	108.0	109.0					1																	186023062		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186023062G>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.6806G>T	1.37:g.186023062G>T	ENSP00000271588:p.Cys2269Phe						p.C2269F	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			44	7035	+			2269			Ig-like C2-type 20.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.6806G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248338	0.59103	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.84944	-1.92;-1.92	4.78	4.78	0.61160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95236	0.8455	H	0.99582	4.64	0.80722	D	1	D	0.62365	0.991	P	0.57283	0.817	D	0.96871	0.9639	10	0.46703	T	0.11	.	18.1723	0.89749	0.0:0.0:1.0:0.0	.	2269	Q96RW7	HMCN1_HUMAN	F	2269	ENSP00000271588:C2269F;ENSP00000356462:C2269F	ENSP00000271588:C2269F	C	+	2	0	HMCN1	184289685	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	7.992000	0.88273	2.353000	0.79882	0.411000	0.27672	TGT		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		8	50	1	0	0.000157383	0.00308	0.000180261	8	50				
KCNT2	343450	broad.mit.edu	37	1	196459025	196459025	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:196459025C>A	ENST00000294725.9	-	3	1133	c.218G>T	c.(217-219)aGc>aTc	p.S73I	KCNT2_ENST00000367433.5_Missense_Mutation_p.S73I|KCNT2_ENST00000367431.4_Missense_Mutation_p.S73I|KCNT2_ENST00000609185.1_Missense_Mutation_p.S73I|KCNT2_ENST00000451324.2_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	73					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.S73I(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TAATAAGCAGCTTAGTAATTT	0.303																																							uc001gtd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(217-219)AGC>ATC		potassium channel, subfamily T, member 2							104.0	112.0	109.0					1																	196459025		2203	4292	6495	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196459025C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.218G>T	1.37:g.196459025C>A	ENSP00000294725:p.Ser73Ile					KCNT2_uc001gte.1_Missense_Mutation_p.S73I|KCNT2_uc001gtf.1_Missense_Mutation_p.S73I|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.S73I|KCNT2_uc009wyv.1_Missense_Mutation_p.S73I	p.S73I	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			3	278	-			73			Helical; Name=Segment S1; (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.218G>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.921924	0.52653	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.20069	2.1;2.1;2.35	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.26122	0.0637	L	0.55990	1.75	0.80722	D	1	B;B;B;B	0.24043	0.096;0.022;0.004;0.096	B;B;B;B	0.26416	0.043;0.069;0.018;0.043	T	0.03364	-1.1044	10	0.87932	D	0	-9.1694	17.1485	0.86772	0.0:1.0:0.0:0.0	.	73;73;73;73	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	I	73	ENSP00000356403:S73I;ENSP00000356401:S73I;ENSP00000294725:S73I	ENSP00000294725:S73I	S	-	2	0	KCNT2	194725648	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.179000	0.50887	2.723000	0.93209	0.655000	0.94253	AGC		0.303	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		19	134	1	0	7.45023e-12	0.010504	1.01939e-11	19	134				
F13B	2165	broad.mit.edu	37	1	197021821	197021821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:197021821C>A	ENST00000367412.1	-	9	1541	c.1498G>T	c.(1498-1500)Gaa>Taa	p.E500*	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	500	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.E500*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ACAGATAATTCAGACAATGGG	0.328																																							uc001gtt.1		NA																	1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3	GRCh37	CD011868	F13B	D		c.(1498-1500)GAA>TAA		coagulation factor XIII B subunit precursor							103.0	103.0	103.0					1																	197021821		2203	4294	6497	SO:0001587	stop_gained	2165				blood coagulation	extracellular region		g.chr1:197021821C>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1498G>T	1.37:g.197021821C>A	ENSP00000356382:p.Glu500*						p.E500*	NM_001994	NP_001985	P05160	F13B_HUMAN			9	1542	-			500			Sushi 8.		A8K3E5|Q5VYL5	Nonsense_Mutation	SNP	ENST00000367412.1	37	c.1498G>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.770579	0.49680	.	.	ENSG00000143278	ENST00000367412	.	.	.	5.47	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	10.4149	0.44316	0.0:0.7506:0.1718:0.0776	.	.	.	.	X	500	.	ENSP00000356382:E500X	E	-	1	0	F13B	195288444	0.039000	0.19947	0.027000	0.17364	0.021000	0.10359	2.707000	0.47143	1.305000	0.44909	0.655000	0.94253	GAA		0.328	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		13	66	1	0	0.00010058	0.001368	0.000116662	13	66				
ASPM	259266	broad.mit.edu	37	1	197113130	197113130	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:197113130T>C	ENST00000367409.4	-	2	654	c.398A>G	c.(397-399)cAa>cGa	p.Q133R	ASPM_ENST00000294732.7_Missense_Mutation_p.Q133R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	133					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.Q133R(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAATATAGCTTGGTGTTTCAG	0.303																																							uc001gtu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(397-399)CAA>CGA		asp (abnormal spindle)-like, microcephaly							66.0	63.0	64.0					1																	197113130		2202	4289	6491	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197113130T>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.398A>G	1.37:g.197113130T>C	ENSP00000356379:p.Gln133Arg					ASPM_uc001gtv.2_Missense_Mutation_p.Q133R|ASPM_uc001gtw.3_5'UTR	p.Q133R	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			2	655	-			133					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.398A>G	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.787434	0.70337	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367406	T;T	0.69435	-0.4;0.94	5.42	5.42	0.78866	.	0.084397	0.50627	D	0.000108	T	0.74794	0.3763	M	0.61703	1.905	0.43292	D	0.995272	D;D	0.69078	0.986;0.997	P;P	0.58520	0.738;0.84	T	0.77222	-0.2667	10	0.62326	D	0.03	.	11.671	0.51401	0.0:0.0715:0.0:0.9285	.	133;133	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	R	133	ENSP00000356379:Q133R;ENSP00000294732:Q133R	ENSP00000294732:Q133R	Q	-	2	0	ASPM	195379753	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.523000	0.60545	2.180000	0.69256	0.519000	0.50382	CAA		0.303	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		12	50	0	0	0	0.000978	0	12	50				
KIF14	9928	broad.mit.edu	37	1	200574420	200574420	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:200574420G>T	ENST00000367350.4	-	8	2175	c.1737C>A	c.(1735-1737)acC>acA	p.T579T		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	579	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.T579T(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CCTTGGTCTGGGTCATCACCA	0.393																																							uc010ppk.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(2)|skin(2)	7						c.(1735-1737)ACC>ACA		kinesin family member 14							78.0	86.0	84.0					1																	200574420		2203	4300	6503	SO:0001819	synonymous_variant	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200574420G>T	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.1737C>A	1.37:g.200574420G>T						KIF14_uc010ppj.1_Silent_p.T88T	p.T579T	NM_014875	NP_055690	Q15058	KIF14_HUMAN			8	2176	-			579			Kinesin-motor.		Q14CI8|Q4G0A5|Q5T1W3	Silent	SNP	ENST00000367350.4	37	c.1737C>A	CCDS30963.1																																																																																				0.393	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		15	67	1	0	0.000219431	0.00245	0.0002507	15	67				
USH2A	7399	broad.mit.edu	37	1	215972398	215972398	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:215972398C>T	ENST00000307340.3	-	50	10195	c.9809G>A	c.(9808-9810)aGa>aAa	p.R3270K	USH2A_ENST00000366943.2_Missense_Mutation_p.R3270K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3270					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)	p.R3270K(1)		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)		GTACGGCATTCTGCCACAGCA	0.478										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(9808-9810)AGA>AAA		usherin isoform B							100.0	88.0	92.0					1																	215972398		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.chr1:215972398C>T	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.9809G>A	1.37:g.215972398C>T	ENSP00000305941:p.Arg3270Lys	HNSCC(13;0.011)					p.R3270K	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	50	10196	-			3270			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.9809G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857298	0.32791	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.11821	2.74;2.74	5.81	2.53	0.30540	Fibronectin, type III (2);	0.841724	0.10136	N	0.711511	T	0.11196	0.0273	L	0.31294	0.92	0.09310	N	0.999994	B	0.14805	0.011	B	0.10450	0.005	T	0.29058	-1.0024	10	0.37606	T	0.19	.	10.1616	0.42855	0.0:0.6465:0.2633:0.0902	.	3270	O75445	USH2A_HUMAN	K	3270	ENSP00000305941:R3270K;ENSP00000355910:R3270K	ENSP00000305941:R3270K	R	-	2	0	USH2A	214039021	0.958000	0.32768	0.997000	0.53966	0.995000	0.86356	1.642000	0.37207	0.775000	0.33450	-0.127000	0.14921	AGA		0.478	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		10	46	0	0	0	0.006214	0	10	46				
ESRRG	2104	broad.mit.edu	37	1	216692692	216692692	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:216692692C>G	ENST00000408911.3	-	6	1087	c.934G>C	c.(934-936)Ggt>Cgt	p.G312R	ESRRG_ENST00000366940.2_Missense_Mutation_p.G289R|ESRRG_ENST00000493603.1_Missense_Mutation_p.G289R|ESRRG_ENST00000361525.3_Missense_Mutation_p.G289R|ESRRG_ENST00000366937.1_Missense_Mutation_p.G324R|ESRRG_ENST00000359162.2_Missense_Mutation_p.G289R|ESRRG_ENST00000361395.2_Missense_Mutation_p.G289R|ESRRG_ENST00000391890.3_Missense_Mutation_p.G296R|ESRRG_ENST00000366938.2_Missense_Mutation_p.G289R|ESRRG_ENST00000360012.3_Missense_Mutation_p.G289R|ESRRG_ENST00000487276.1_Missense_Mutation_p.G289R|ESRRG_ENST00000463665.1_Missense_Mutation_p.G250R|ESRRG_ENST00000493748.1_Missense_Mutation_p.G289R	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	312					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.G312R(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TATACGACACCAAGGATCAAA	0.473																																							uc001hkw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(934-936)GGT>CGT		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						80.0	79.0	79.0					1																	216692692		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216692692C>G	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.934G>C	1.37:g.216692692C>G	ENSP00000386171:p.Gly312Arg					ESRRG_uc001hky.1_Missense_Mutation_p.G289R|ESRRG_uc009xdp.1_Missense_Mutation_p.G289R|ESRRG_uc001hkz.1_Missense_Mutation_p.G250R|ESRRG_uc010puc.1_Missense_Mutation_p.G289R|ESRRG_uc001hla.1_Missense_Mutation_p.G289R|ESRRG_uc001hlb.1_Missense_Mutation_p.G289R|ESRRG_uc010pud.1_Missense_Mutation_p.G120R|ESRRG_uc001hlc.1_Missense_Mutation_p.G289R|ESRRG_uc001hld.1_Missense_Mutation_p.G289R|ESRRG_uc001hkx.1_Missense_Mutation_p.G324R|ESRRG_uc009xdo.1_Missense_Mutation_p.G289R|ESRRG_uc001hle.1_Missense_Mutation_p.G289R	p.G312R	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	6	1100	-			312					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.934G>C	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448428	0.43429	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02	5.82	5.82	0.92795	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.046577	0.85682	D	0.000000	D	0.94456	0.8216	L	0.33293	1	0.58432	D	0.999999	P;B;B	0.36249	0.545;0.24;0.005	B;B;B	0.39094	0.29;0.046;0.006	D	0.93844	0.7139	10	0.56958	D	0.05	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	250;324;312	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	R	289;289;324;312;289;289;289;289;289;296;250;289;289;289;289	ENSP00000355225:G289R;ENSP00000355907:G289R;ENSP00000355904:G324R;ENSP00000386171:G312R;ENSP00000352077:G289R;ENSP00000354584:G289R;ENSP00000355905:G289R;ENSP00000353108:G289R;ENSP00000419594:G289R;ENSP00000375761:G296R;ENSP00000418629:G250R;ENSP00000419155:G289R;ENSP00000417374:G289R;ENSP00000419514:G289R	ENSP00000346386:G289R	G	-	1	0	ESRRG	214759315	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	6.122000	0.71608	2.767000	0.95098	0.655000	0.94253	GGT		0.473	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		8	43	0	0	0	0.004482	0	8	43				
OBSCN	84033	broad.mit.edu	37	1	228432156	228432156	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:228432156T>C	ENST00000422127.1	+	11	3409	c.3365T>C	c.(3364-3366)aTg>aCg	p.M1122T	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.M1214T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.M1122T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1122	Ig-like 11.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.M1122T(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AAAGTGGGCATGGAGGTCAAA	0.627																																							uc009xez.1		NA																	4	Substitution - Missense(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(3364-3366)ATG>ACG		obscurin, cytoskeletal calmodulin and							86.0	89.0	88.0					1																	228432156		2083	4205	6288	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228432156T>C	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3365T>C	1.37:g.228432156T>C	ENSP00000409493:p.Met1122Thr					OBSCN_uc001hsn.2_Missense_Mutation_p.M1122T	p.M1122T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			11	3409	+		Prostate(94;0.0405)	1122			Ig-like 11.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3365T>C	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	0.140	-1.103731	0.01828	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.67698	-0.28;-0.28	3.44	3.44	0.39384	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.855734	0.10247	N	0.697665	T	0.53045	0.1772	L	0.31845	0.965	0.80722	D	1	B;P	0.39696	0.148;0.683	B;B	0.33454	0.026;0.164	T	0.48043	-0.9069	10	0.33141	T	0.24	.	12.1474	0.54031	0.0:0.0:0.0:1.0	.	1122;1122	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	T	1122	ENSP00000284548:M1122T;ENSP00000409493:M1122T	ENSP00000284548:M1122T	M	+	2	0	OBSCN	226498779	0.997000	0.39634	0.683000	0.30040	0.002000	0.02628	2.639000	0.46570	1.439000	0.47511	0.369000	0.22263	ATG		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		14	97	0	0	0	0.00245	0	14	97				
KIAA1804	84451	broad.mit.edu	37	1	233518100	233518100	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:233518100C>T	ENST00000366624.3	+	10	3015	c.2754C>T	c.(2752-2754)tgC>tgT	p.C918C	MLK4_ENST00000366622.1_Silent_p.C364C	NM_032435.2	NP_115811.2												p.C918C(1)									TGCCACTCTGCCCCTCACCTG	0.532																																							uc001hvt.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(5)|central_nervous_system(2)|skin(1)	8						c.(2752-2754)TGC>TGT		mixed lineage kinase 4							77.0	73.0	74.0					1																	233518100		2203	4300	6503	SO:0001819	synonymous_variant	84451				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	g.chr1:233518100C>T																												ENST00000366624.3:c.2754C>T	1.37:g.233518100C>T						KIAA1804_uc001hvu.3_Silent_p.C364C	p.C918C	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN			10	3015	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	918						Silent	SNP	ENST00000366624.3	37	c.2754C>T	CCDS1598.1																																																																																				0.532	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			16	81	0	0	0	0.00499	0	16	81				
LYST	1130	broad.mit.edu	37	1	235972070	235972070	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:235972070G>C	ENST00000389794.3	-	5	2222	c.2048C>G	c.(2047-2049)tCt>tGt	p.S683C	LYST_ENST00000389793.2_Missense_Mutation_p.S683C|LYST_ENST00000536965.1_Missense_Mutation_p.S683C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	683					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.S683C(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAAATCTTCAGATCCACTGCT	0.393																																							uc001hxj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(2047-2049)TCT>TGT		lysosomal trafficking regulator							73.0	76.0	75.0					1																	235972070		2202	4300	6502	SO:0001583	missense	1130	Chediak-Higashsyndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235972070G>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2048C>G	1.37:g.235972070G>C	ENSP00000374444:p.Ser683Cys					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.S683C	p.S683C	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	2223	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	683			WD 1.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.2048C>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332016	0.24167	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.71103	-0.54;-0.54;1.12	5.6	-0.173	0.13322	.	0.051361	0.85682	D	0.000000	T	0.56426	0.1984	L	0.44542	1.39	0.31435	N	0.672678	B;B	0.13145	0.007;0.005	B;B	0.14023	0.006;0.01	T	0.55140	-0.8187	10	0.62326	D	0.03	.	6.5635	0.22499	0.2138:0.2333:0.5529:0.0	.	683;683	Q99698-3;Q99698	.;LYST_HUMAN	C	683	ENSP00000374444:S683C;ENSP00000374443:S683C;ENSP00000438315:S683C	ENSP00000374443:S683C	S	-	2	0	LYST	234038693	0.996000	0.38824	0.731000	0.30826	0.964000	0.63967	3.195000	0.51013	0.259000	0.21709	-0.345000	0.07892	TCT		0.393	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			13	72	0	0	0	0.001855	0	13	72				
RYR2	6262	broad.mit.edu	37	1	237919600	237919600	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:237919600G>A	ENST00000366574.2	+	81	11475	c.11158G>A	c.(11158-11160)Gaa>Aaa	p.E3720K	RYR2_ENST00000542537.1_Missense_Mutation_p.E3704K|RYR2_ENST00000360064.6_Missense_Mutation_p.E3726K|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3720					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)	p.E3718K(1)		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)			AAAAGAAATGGAAAAGCAAAA	0.438																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(11158-11160)GAA>AAA		cardiac muscle ryanodine receptor							80.0	80.0	80.0					1																	237919600		1875	4122	5997	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.chr1:237919600G>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.11158G>A	1.37:g.237919600G>A	ENSP00000355533:p.Glu3720Lys					RYR2_uc010pya.1_Missense_Mutation_p.E135K	p.E3720K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		81	11278	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3720					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.11158G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538530	0.85917	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.91521	-2.86;-2.86;-2.86	5.74	5.74	0.90152	.	0.000000	0.64402	U	0.000007	D	0.95837	0.8645	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.85130	0.978;0.997	D	0.95761	0.8800	10	0.87932	D	0	-20.6388	19.2859	0.94069	0.0:0.0:1.0:0.0	.	694;3720	B4DGV4;Q92736	.;RYR2_HUMAN	K	3720;3726;3704;694	ENSP00000355533:E3720K;ENSP00000353174:E3726K;ENSP00000443798:E3704K	ENSP00000353174:E3726K	E	+	1	0	RYR2	235986223	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.873000	0.98535	0.563000	0.77884	GAA		0.438	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		12	33	0	0	0	0.001368	0	12	33				
RGS7	6000	broad.mit.edu	37	1	241099977	241099977	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:241099977C>A	ENST00000407727.1	-	4	255	c.256G>T	c.(256-258)Gct>Tct	p.A86S	RGS7_ENST00000366564.1_Missense_Mutation_p.A86S|RGS7_ENST00000366562.4_Missense_Mutation_p.A86S|RGS7_ENST00000446183.2_Missense_Mutation_p.A2S|RGS7_ENST00000331110.7_Missense_Mutation_p.A60S|RGS7_ENST00000366563.1_Missense_Mutation_p.A86S|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366565.1_Missense_Mutation_p.A86S|RGS7_ENST00000401882.1_Intron			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	86	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)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.A86S(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCGTGGGCAGCCATTAATGTT	0.368																																							uc001hyv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|kidney(1)	7						c.(256-258)GCT>TCT		regulator of G-protein signaling 7							77.0	85.0	83.0					1																	241099977		2203	4300	6503	SO:0001583	missense	6000				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|protein binding|signal transducer activity	g.chr1:241099977C>A	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.256G>T	1.37:g.241099977C>A	ENSP00000384428:p.Ala86Ser					RGS7_uc010pyh.1_Missense_Mutation_p.A60S|RGS7_uc010pyj.1_Missense_Mutation_p.A2S|RGS7_uc001hyu.2_Missense_Mutation_p.A86S|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.A86S	p.A86S	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		5	586	-		all_cancers(173;0.0131)	86			DEP.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.256G>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.068795	0.76301	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000446183;ENST00000366562;ENST00000407727	T;T;T;T;T;T;T	0.38401	1.94;1.94;1.94;1.94;1.14;1.94;1.94	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	L	0.41710	1.295	0.80722	D	1	P;D;P;P;P	0.89917	0.626;1.0;0.87;0.911;0.735	B;D;P;P;B	0.91635	0.316;0.999;0.591;0.755;0.259	T	0.42085	-0.9472	10	0.35671	T	0.21	-5.1665	18.4365	0.90648	0.0:1.0:0.0:0.0	.	2;60;86;86;86	B7Z223;B7Z257;P49802-2;P49802-5;P49802-3	.;.;.;.;.	S	60;86;86;86;2;86;86	ENSP00000331485:A60S;ENSP00000355523:A86S;ENSP00000355522:A86S;ENSP00000355521:A86S;ENSP00000390138:A2S;ENSP00000355520:A86S;ENSP00000384428:A86S	ENSP00000331485:A60S	A	-	1	0	RGS7	239166600	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	4.610000	0.61155	2.595000	0.87683	0.563000	0.77884	GCT		0.368	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		30	127	1	0	1.06801e-11	0.009535	1.45696e-11	30	127				
MAP1LC3C	440738	broad.mit.edu	37	1	242159524	242159524	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:242159524C>A	ENST00000357246.3	-	4	449	c.385G>T	c.(385-387)Gag>Tag	p.E129*		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	129					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)		p.E129*(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCTGCTGACTCCAGGCAGCCA	0.567																																							uc001hzk.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(385-387)GAG>TAG		microtubule-associated protein 1 light chain 3							127.0	114.0	118.0					1																	242159524		2203	4300	6503	SO:0001587	stop_gained	440738				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr1:242159524C>A	AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.385G>T	1.37:g.242159524C>A	ENSP00000349785:p.Glu129*						p.E129*	NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		4	460	-			129					A0PJY8|A2RUP0	Nonsense_Mutation	SNP	ENST00000357246.3	37	c.385G>T	CCDS31074.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543861	0.45280	.	.	ENSG00000197769	ENST00000357246	.	.	.	4.18	2.1	0.27182	.	1.592190	0.03637	N	0.238785	.	.	.	.	.	.	0.24944	N	0.991834	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	.	4.3724	0.11255	0.2385:0.6419:0.0:0.1196	.	.	.	.	X	129	.	ENSP00000349785:E129X	E	-	1	0	MAP1LC3C	240226147	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.009000	0.12765	0.967000	0.38186	-0.163000	0.13421	GAG		0.567	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343		6	71	1	0	5.9392e-07	0.001168	7.29628e-07	6	71				
CNST	163882	broad.mit.edu	37	1	246829096	246829096	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:246829096C>T	ENST00000366513.4	+	11	2336	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	689				F -> L (in Ref. 1; BAC03735). {ECO:0000305}.	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)	p.F689F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ACTGCACTTTCGGTGACATGG	0.458																																							uc001ibp.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2065-2067)TTC>TTT		hypothetical protein LOC163882 isoform 1							192.0	167.0	175.0					1																	246829096		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:246829096C>T	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.2067C>T	1.37:g.246829096C>T							p.F689F	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			11	2445	+			689	F -> L (in Ref. 1; BAC03735).				Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Silent	SNP	ENST00000366513.4	37	c.2067C>T	CCDS1628.1																																																																																				0.458	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		15	102	0	0	0	0.004007	0	15	102				
OR2C3	81472	broad.mit.edu	37	1	247694862	247694862	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:247694862C>A	ENST00000366487.3	-	2	1313	c.952G>T	c.(952-954)Gcg>Tcg	p.A318S	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	318						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A317S(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAAATTTGCGCCAGCTTGCCT	0.507																																							uc009xgy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(952-954)GCG>TCG		olfactory receptor, family 2, subfamily C,							56.0	53.0	54.0					1																	247694862		2203	4300	6503	SO:0001583	missense	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247694862C>A	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.952G>T	1.37:g.247694862C>A	ENSP00000355443:p.Ala318Ser					C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.A318S	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	1314	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	318			Cytoplasmic (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Missense_Mutation	SNP	ENST00000366487.3	37	c.952G>T	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	C	11.15	1.552977	0.27739	.	.	ENSG00000196242	ENST00000366487	T	0.00468	7.22	3.56	-3.41	0.04839	.	.	.	.	.	T	0.00178	0.0005	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.29181	-1.0020	9	0.09843	T	0.71	.	1.0319	0.01540	0.1639:0.2379:0.1616:0.4366	.	318	Q8N628	OR2C3_HUMAN	S	318	ENSP00000355443:A318S	ENSP00000355443:A318S	A	-	1	0	OR2C3	245761485	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	-0.129000	0.10515	-0.661000	0.05345	0.655000	0.94253	GCG		0.507	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		4	45	1	0	0.000602214	0.000602	0.000669616	4	45				
ADARB2	105	broad.mit.edu	37	10	1230908	1230908	+	Missense_Mutation	SNP	C	C	T	rs146024921		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:1230908C>T	ENST00000381312.1	-	9	2261	c.1936G>A	c.(1936-1938)Gcg>Acg	p.A646T	ADARB2_ENST00000381310.3_Missense_Mutation_p.A155T|ADARB2_ENST00000381305.1_Missense_Mutation_p.A48T	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	646	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.A646T(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCCAGGTCCGCGCTGCCCACG	0.692																																							uc009xhq.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|central_nervous_system(1)	3						c.(1936-1938)GCG>ACG		adenosine deaminase, RNA-specific, B2		C	THR/ALA	2,4404	2.1+/-5.4	0,2,2201	41.0	38.0	39.0		1936	-0.6	0.0	10	dbSNP_134	39	0,8598		0,0,4299	no	missense	ADARB2	NM_018702.3	58	0,2,6500	TT,TC,CC		0.0,0.0454,0.0154	benign	646/740	1230908	2,13002	2203	4299	6502	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1230908C>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1936G>A	10.37:g.1230908C>T	ENSP00000370713:p.Ala646Thr					ADARB2_uc009xhp.2_Missense_Mutation_p.A30T|ADARB2_uc001igl.3_Missense_Mutation_p.A8T|ADARB2_uc001igm.3_Missense_Mutation_p.A155T	p.A646T	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	9	2310	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	646			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.1936G>A	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	C	0.180	-1.062691	0.01950	4.54E-4	0.0	ENSG00000185736	ENST00000381312;ENST00000381310;ENST00000381305	D;D;D	0.93307	-3.2;-3.2;-3.2	4.81	-0.588	0.11687	Adenosine deaminase/editase (3);	0.619257	0.17548	N	0.170262	T	0.80549	0.4644	N	0.13098	0.295	0.09310	N	1	B;B;B	0.29936	0.002;0.001;0.262	B;B;B	0.25506	0.002;0.005;0.061	T	0.69308	-0.5179	10	0.13108	T	0.6	-8.7158	3.9582	0.09399	0.3589:0.364:0.0:0.2771	.	646;48;155	Q9NS39;Q5VW43;Q5VW42	RED2_HUMAN;.;.	T	646;155;48	ENSP00000370713:A646T;ENSP00000370711:A155T;ENSP00000370706:A48T	ENSP00000370706:A48T	A	-	1	0	ADARB2	1220908	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-1.563000	0.02154	-0.136000	0.11475	-0.254000	0.11334	GCG		0.692	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		5	35	0	0	0	0.000602	0	5	35				
CELF2	10659	broad.mit.edu	37	10	11363183	11363183	+	Silent	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:11363183G>C	ENST00000379261.4	+	11	1181	c.1089G>C	c.(1087-1089)ctG>ctC	p.L363L	CELF2_ENST00000354897.3_Silent_p.L357L|CELF2_ENST00000450189.1_Silent_p.L376L|CELF2_ENST00000427450.1_Silent_p.L345L|CELF2-AS1_ENST00000379256.3_RNA|CELF2_ENST00000399850.3_Silent_p.L345L|CELF2_ENST00000537122.1_Silent_p.L258L|CELF2_ENST00000416382.2_Silent_p.L363L|CELF2_ENST00000608830.1_Silent_p.L343L|CELF2_ENST00000354440.2_Silent_p.L345L|CELF2_ENST00000315874.4_Silent_p.L345L|CELF2_ENST00000417956.2_Silent_p.L343L|CELF2_ENST00000609692.1_Silent_p.L343L|CELF2_ENST00000542579.1_Silent_p.L376L	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	363	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L364L(1)|p.L363L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TGGCGGCTCTGAATGGAGGAC	0.507																																							uc001iki.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1087-1089)CTG>CTC		CUG triplet repeat, RNA binding protein 2							122.0	118.0	120.0					10																	11363183		2035	4204	6239	SO:0001819	synonymous_variant	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11363183G>C	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1089G>C	10.37:g.11363183G>C						CELF2_uc010qbj.1_Silent_p.L369L|CELF2_uc001ikk.2_Silent_p.L388L|CELF2_uc001ikl.3_Silent_p.L376L|CELF2_uc010qbl.1_Silent_p.L339L|CELF2_uc010qbm.1_Silent_p.L135L|CELF2_uc001iko.3_Silent_p.L343L|CELF2_uc001ikp.3_Silent_p.L345L|CELF2_uc010qbn.1_Silent_p.L351L|CELF2_uc010qbo.1_Silent_p.L258L|CELF2_uc010qbp.1_Silent_p.L135L	p.L363L	NM_001025077	NP_001020248	O95319	CELF2_HUMAN			11	1181	+			363			Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|Ala-rich.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Silent	SNP	ENST00000379261.4	37	c.1089G>C	CCDS44354.1																																																																																				0.507	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				24	100	0	0	0	0.00632	0	24	100				
STAM	8027	broad.mit.edu	37	10	17747606	17747606	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:17747606G>A	ENST00000377524.3	+	12	1290	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	STAM_ENST00000540523.1_Missense_Mutation_p.E248K	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	359					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)	p.E359K(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						AGAACTCTCAGAACTTAATGT	0.323																																							uc001ipj.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1075-1077)GAA>AAA		signal transducing adaptor molecule 1							93.0	92.0	92.0					10																	17747606		2202	4300	6502	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.chr10:17747606G>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.1075G>A	10.37:g.17747606G>A	ENSP00000366746:p.Glu359Lys					STAM_uc009xjw.1_Intron	p.E359K	NM_003473	NP_003464	Q92783	STAM1_HUMAN			12	1291	+			359					B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	c.1075G>A	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367291	0.82463	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.45668	1.35;0.89	5.64	5.64	0.86602	.	0.050115	0.85682	D	0.000000	T	0.52158	0.1717	M	0.67700	2.07	0.80722	D	1	P	0.52463	0.953	P	0.47603	0.551	T	0.51140	-0.8743	10	0.40728	T	0.16	-25.0529	19.6932	0.96010	0.0:0.0:1.0:0.0	.	359	Q92783	STAM1_HUMAN	K	359;248	ENSP00000366746:E359K;ENSP00000438073:E248K	ENSP00000366746:E359K	E	+	1	0	STAM	17787612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.664000	0.90586	0.655000	0.94253	GAA		0.323	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		7	68	0	0	0	0.00308	0	7	68				
PTCHD3	374308	broad.mit.edu	37	10	27703039	27703039	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:27703039G>T	ENST00000438700.3	-	1	258	c.141C>A	c.(139-141)ccC>ccA	p.P47P		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	47					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.P47P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGGGTGCCAGGGGTCCCGGGG	0.682																																							uc001itu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(139-141)CCC>CCA		patched domain containing 3							45.0	59.0	54.0					10																	27703039		2200	4294	6494	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27703039G>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.141C>A	10.37:g.27703039G>T							p.P47P	NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN			1	259	-			47					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.141C>A	CCDS31173.1																																																																																				0.682	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		17	128	1	0	1.01871e-10	0.008871	1.36927e-10	17	128				
FZD8	8325	broad.mit.edu	37	10	35928960	35928960	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:35928960C>T	ENST00000374694.1	-	1	1402	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	466					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.P466P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGCCCGCCACCGGGTCGCCGT	0.667																																							uc001iyz.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1396-1398)CCG>CCA		frizzled 8 precursor							31.0	29.0	29.0					10																	35928960		2201	4298	6499	SO:0001819	synonymous_variant	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35928960C>T	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.1398G>A	10.37:g.35928960C>T							p.P466P	NM_031866	NP_114072	Q9H461	FZD8_HUMAN			1	1403	-			466			Extracellular (Potential).			Silent	SNP	ENST00000374694.1	37	c.1398G>A	CCDS7192.1																																																																																				0.667	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		3	25	0	0	0	0.009096	0	3	25				
BMS1	9790	broad.mit.edu	37	10	43312827	43312827	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:43312827A>T	ENST00000374518.5	+	15	2528	c.2465A>T	c.(2464-2466)aAg>aTg	p.K822M		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	822					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.K822M(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAAGTGCCAAGAAAAAGCAT	0.318																																							uc001jaj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(2464-2466)AAG>ATG		BMS1-like, ribosome assembly protein							19.0	20.0	20.0					10																	43312827		2155	4195	6350	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43312827A>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2465A>T	10.37:g.43312827A>T	ENSP00000363642:p.Lys822Met						p.K822M	NM_014753	NP_055568	Q14692	BMS1_HUMAN			15	2823	+			822					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.2465A>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.231140	0.39399	.	.	ENSG00000165733	ENST00000374518	T	0.18960	2.18	5.56	3.24	0.37175	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.424073	0.26761	N	0.022639	T	0.16854	0.0405	L	0.35854	1.095	0.43517	D	0.995783	B	0.20052	0.041	B	0.21360	0.034	T	0.03969	-1.0988	10	0.62326	D	0.03	.	9.3177	0.37943	0.8525:0.0:0.1475:0.0	.	822	Q14692	BMS1_HUMAN	M	822	ENSP00000363642:K822M	ENSP00000363642:K822M	K	+	2	0	BMS1	42632833	1.000000	0.71417	0.996000	0.52242	0.861000	0.49209	3.024000	0.49674	0.423000	0.26033	0.451000	0.29950	AAG		0.318	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		6	18	0	0	0	0.001168	0	6	18				
KAT6B	23522	broad.mit.edu	37	10	76789116	76789116	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:76789116G>T	ENST00000287239.4	+	18	5023	c.4534G>T	c.(4534-4536)Gca>Tca	p.A1512S	KAT6B_ENST00000372714.1_Missense_Mutation_p.A1220S|KAT6B_ENST00000372724.1_Missense_Mutation_p.A1220S|KAT6B_ENST00000372711.1_Missense_Mutation_p.A1329S|KAT6B_ENST00000372725.1_Missense_Mutation_p.A1220S	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1512					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)	p.A1512S(1)									AGGAGAACAGGCACAGAAGCA	0.547																																							uc001jwn.1		NA								T					CREBBP		AML		1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(4534-4536)GCA>TCA		MYST histone acetyltransferase (monocytic							82.0	81.0	81.0					10																	76789116		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.chr10:76789116G>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.4534G>T	10.37:g.76789116G>T	ENSP00000287239:p.Ala1512Ser					MYST4_uc001jwo.1_Missense_Mutation_p.A1220S|MYST4_uc001jwp.1_Missense_Mutation_p.A1329S	p.A1512S	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			18	5027	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		1512					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.4534G>T	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	6.229	0.410404	0.11812	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	4.77	1.5	0.22942	.	0.939609	0.08846	N	0.885105	T	0.57725	0.2073	N	0.22421	0.69	0.26272	N	0.978414	B;B;B	0.22683	0.03;0.03;0.073	B;B;B	0.26969	0.075;0.037;0.055	T	0.42766	-0.9432	10	0.14252	T	0.57	0.0144	7.0276	0.24948	0.3575:0.0:0.6425:0.0	.	1329;1220;1512	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	S	1220;1220;1512;1220;1329	ENSP00000361810:A1220S;ENSP00000361809:A1220S;ENSP00000287239:A1512S;ENSP00000361799:A1220S;ENSP00000361796:A1329S	ENSP00000287239:A1512S	A	+	1	0	KAT6B	76459122	0.019000	0.18553	0.998000	0.56505	0.993000	0.82548	0.622000	0.24433	0.284000	0.22305	0.563000	0.77884	GCA		0.547	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		28	71	1	0	2.44723e-14	0.004656	3.44118e-14	28	71				
ZNF503	84858	broad.mit.edu	37	10	77158903	77158903	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:77158903G>A	ENST00000372524.4	-	2	2031	c.1545C>T	c.(1543-1545)atC>atT	p.I515I	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000466942.2_RNA|ZNF503_ENST00000535216.1_Silent_p.I515I	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	515					G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|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)	p.I515I(1)		lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CCCAGTTGCAGATGTGGGGGA	0.677																																							uc001jxg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1543-1545)ATC>ATT		zinc finger protein 503							28.0	29.0	29.0					10																	77158903		2202	4299	6501	SO:0001819	synonymous_variant	84858				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr10:77158903G>A	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.1545C>T	10.37:g.77158903G>A						C10orf41_uc010qlf.1_5'Flank	p.I515I	NM_032772	NP_116161	Q96F45	ZN503_HUMAN			2	1881	-	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)		515			C2H2-type.		Q8NAC5|Q96E25|Q96IJ0	Silent	SNP	ENST00000372524.4	37	c.1545C>T	CCDS7350.1																																																																																				0.677	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048826.1	NM_032772		8	46	0	0	0	0.004482	0	8	46				
ENTPD1	953	broad.mit.edu	37	10	97602241	97602241	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:97602241C>T	ENST00000371205.4	+	4	686	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	ENTPD1-AS1_ENST00000416301.1_RNA|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000543964.1_Missense_Mutation_p.R27W|ENTPD1_ENST00000371207.3_Missense_Mutation_p.R147W|ENTPD1_ENST00000539125.1_Intron|ENTPD1_ENST00000453258.2_Missense_Mutation_p.R142W|ENTPD1_ENST00000371203.5_Intron			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	135					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.R135W(2)		cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGCAGGCATGCGGTTGCTCAG	0.532																																							uc001klh.3		NA																	2	Substitution - Missense(2)		lung(1)|prostate(1)	ovary(3)	3						c.(403-405)CGG>TGG		ectonucleoside triphosphate diphosphohydrolase 1							74.0	75.0	75.0					10																	97602241		2203	4300	6503	SO:0001583	missense	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97602241C>T	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.403C>T	10.37:g.97602241C>T	ENSP00000360248:p.Arg135Trp					ENTPD1_uc001kle.1_Missense_Mutation_p.R142W|ENTPD1_uc001kli.3_Missense_Mutation_p.R142W|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.R147W|ENTPD1_uc010qok.1_Missense_Mutation_p.R27W|ENTPD1_uc010qol.1_Missense_Mutation_p.R27W|ENTPD1_uc010qom.1_Missense_Mutation_p.R135W|ENTPD1_uc010qon.1_Intron|ENTPD1_uc009xva.2_Intron|ENTPD1_uc009xuz.2_RNA	p.R135W	NM_001776	NP_001767	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	4	727	+		Colorectal(252;0.0821)	135			Extracellular (Potential).		A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	ENST00000371205.4	37	c.403C>T	CCDS7444.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871849	0.72180	.	.	ENSG00000138185	ENST00000453258;ENST00000371206;ENST00000371207;ENST00000543964;ENST00000371205	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	5.26	2.05	0.26809	.	0.000000	0.85682	D	0.000000	T	0.72661	0.3488	H	0.96547	3.84	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	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.80696	-0.1267	10	0.87932	D	0	-20.6798	12.5122	0.56011	0.4143:0.5857:0.0:0.0	.	147;147;142;135;142	B4DWB9;G3XAF6;P49961-2;P49961;P49961-3	.;.;.;ENTP1_HUMAN;.	W	142;142;147;27;135	ENSP00000390955:R142W;ENSP00000360250:R147W;ENSP00000442968:R27W;ENSP00000360248:R135W	ENSP00000360248:R135W	R	+	1	2	ENTPD1	97592231	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.730000	0.26043	0.740000	0.32651	0.591000	0.81541	CGG		0.532	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		4	94	0	0	0	0.009096	0	4	94				
ARHGAP19	84986	broad.mit.edu	37	10	99019290	99019290	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:99019290G>A	ENST00000358531.4	-	5	737	c.709C>T	c.(709-711)Cct>Tct	p.P237S	ARHGAP19_ENST00000371027.1_Missense_Mutation_p.P228S|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.P237S|ARHGAP19-SLIT1_ENST00000453547.2_Missense_Mutation_p.P237S|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.P228S|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.P237S	NM_001204300.1|NM_032900.5	NP_001191229.1|NP_116289.4	Q14CB8	RHG19_HUMAN	Rho GTPase activating protein 19	237	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.P56S(1)|p.P237S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CGATTAGGAGGAGGGAGAATG	0.413																																							uc001knb.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(709-711)CCT>TCT		Rho GTPase activating protein 19							387.0	334.0	352.0					10																	99019290		2203	4300	6503	SO:0001583	missense	84986				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity	g.chr10:99019290G>A	AK074122	CCDS7454.2, CCDS58092.1, CCDS73175.1	10q24.2	2011-06-29			ENSG00000213390	ENSG00000213390		"""Rho GTPase activating proteins"""	23724	protein-coding gene	gene with protein product		611587					Standard	NM_032900		Approved	FLJ00194, MGC14258	uc001knb.3	Q14CB8	OTTHUMG00000018845	ENST00000358531.4:c.709C>T	10.37:g.99019290G>A	ENSP00000351333:p.Pro237Ser					ARHGAP19_uc001kmy.2_RNA|ARHGAP19_uc001kna.2_Missense_Mutation_p.P228S|ARHGAP19_uc009xvi.2_RNA|ARHGAP19_uc009xvj.2_Missense_Mutation_p.P237S|ARHGAP19_uc009xvk.2_Missense_Mutation_p.P31S	p.P237S	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)	5	738	-		Colorectal(252;0.0854)	237			Rho-GAP.		A1XCP1|B4DZR1|Q14CF2|Q5J8M2|Q5T460|Q5T462|Q68DG6|Q8N9X1|Q8NF34|Q8TEK1	Missense_Mutation	SNP	ENST00000358531.4	37	c.709C>T	CCDS7454.2	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779967	0.31502	.	.	ENSG00000213390	ENST00000453547;ENST00000316676;ENST00000355366;ENST00000358531;ENST00000371027;ENST00000393817;ENST00000358308	T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18	5.29	5.29	0.74685	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.322265	0.28883	U	0.013830	T	0.13457	0.0326	L	0.28776	0.89	0.28994	N	0.887848	B;B;B	0.17852	0.024;0.016;0.022	B;B;B	0.23419	0.029;0.046;0.023	T	0.24154	-1.0168	10	0.09084	T	0.74	-7.0968	8.3632	0.32372	0.0859:0.2086:0.7055:0.0	.	237;237;228	Q14CB8-6;Q14CB8;Q14CB8-3	.;RHG19_HUMAN;.	S	237;237;228;237;228;56;237	ENSP00000414774:P237S;ENSP00000324468:P237S;ENSP00000347526:P228S;ENSP00000351333:P237S;ENSP00000360066:P228S;ENSP00000351058:P237S	ENSP00000324468:P237S	P	-	1	0	ARHGAP19	99009280	0.995000	0.38212	1.000000	0.80357	0.951000	0.60555	2.344000	0.44010	2.477000	0.83638	0.655000	0.94253	CCT		0.413	ARHGAP19-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049647.2	NM_032900		19	134	0	0	0	0.007413	0	19	134				
PPRC1	23082	broad.mit.edu	37	10	103898375	103898375	+	Splice_Site	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:103898375G>C	ENST00000278070.2	+	3	381		c.e3-1		PPRC1_ENST00000413464.2_Splice_Site|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TTCTGGAGCAGAGCAGGTTAT	0.478																																							uc001kum.2		NA																	1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.e3-1		peroxisome proliferator-activated receptor							99.0	93.0	95.0					10																	103898375		2203	4300	6503	SO:0001630	splice_region_variant	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103898375G>C	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.343-1G>C	10.37:g.103898375G>C						PPRC1_uc001kun.2_Intron|PPRC1_uc010qqj.1_Splice_Site_p.S115_splice|PPRC1_uc009xxa.2_5'Flank	p.S115_splice	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	3	382	+		Colorectal(252;0.122)						Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Splice_Site	SNP	ENST00000278070.2	37	c.343_splice	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.609016	0.46527	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	.	.	.	4.97	4.06	0.47325	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1957	0.20548	0.1518:0.0:0.6905:0.1577	.	.	.	.	.	-1	.	.	.	+	.	.	PPRC1	103888365	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.590000	0.53979	1.228000	0.43614	0.462000	0.41574	.		0.478	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062	Intron	9	77	0	0	0	0.006214	0	9	77				
FAM160B1	57700	broad.mit.edu	37	10	116605137	116605137	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr10:116605137A>G	ENST00000369248.4	+	8	1360	c.1025A>G	c.(1024-1026)tAt>tGt	p.Y342C	FAM160B1_ENST00000369250.3_Missense_Mutation_p.Y342C	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	342								p.Y342C(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TTGGACTCATATAGTCATAAA	0.378																																							uc001lcb.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1024-1026)TAT>TGT		hypothetical protein LOC57700 isoform a							117.0	110.0	112.0					10																	116605137		2203	4300	6503	SO:0001583	missense	57700							g.chr10:116605137A>G	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1025A>G	10.37:g.116605137A>G	ENSP00000358251:p.Tyr342Cys					FAM160B1_uc001lcc.2_Missense_Mutation_p.Y342C	p.Y342C	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN			8	1360	+			342					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	ENST00000369248.4	37	c.1025A>G	CCDS31290.1	.	.	.	.	.	.	.	.	.	.	A	19.10	3.762363	0.69763	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.65178	-0.14;-0.14	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.63331	0.2502	L	0.40543	1.245	0.80722	D	1	P;P	0.46512	0.606;0.879	P;P	0.50109	0.556;0.631	T	0.62845	-0.6768	10	0.38643	T	0.18	-20.55	15.5106	0.75779	1.0:0.0:0.0:0.0	.	342;342	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	C	342	ENSP00000358251:Y342C;ENSP00000358253:Y342C	ENSP00000358251:Y342C	Y	+	2	0	FAM160B1	116595127	1.000000	0.71417	0.945000	0.38365	0.985000	0.73830	9.082000	0.94059	2.117000	0.64856	0.450000	0.29827	TAT		0.378	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		13	71	0	0	0	0.00499	0	13	71				
AP2A2	161	broad.mit.edu	37	11	981252	981252	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:981252G>C	ENST00000448903.2	+	6	799	c.658G>C	c.(658-660)Gaa>Caa	p.E220Q	AP2A2_ENST00000332231.5_Missense_Mutation_p.E220Q|AP2A2_ENST00000534328.1_Missense_Mutation_p.E220Q	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	220					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.E220Q(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GAAGAACCCAGAAGAGTTTAA	0.468																																							uc001lss.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(658-660)GAA>CAA		adaptor-related protein complex 2, alpha 2							72.0	69.0	70.0					11																	981252		1909	4120	6029	SO:0001583	missense	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:981252G>C	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.658G>C	11.37:g.981252G>C	ENSP00000413234:p.Glu220Gln					AP2A2_uc001lst.1_Missense_Mutation_p.E220Q|AP2A2_uc009yco.1_RNA|AP2A2_uc001lsu.1_Missense_Mutation_p.E93Q	p.E220Q	NM_012305	NP_036437	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	6	839	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	220					O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	c.658G>C	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299262	0.40694	.	.	ENSG00000183020	ENST00000525796;ENST00000534328;ENST00000417081;ENST00000448903;ENST00000332231;ENST00000448757;ENST00000329626	T;T;T;T	0.25250	1.81;1.81;1.81;1.81	3.09	3.09	0.35607	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.130916	0.49916	D	0.000121	T	0.28764	0.0713	L	0.59436	1.845	0.80722	D	1	B;B;B	0.31227	0.177;0.314;0.202	B;B;B	0.33339	0.147;0.162;0.137	T	0.35126	-0.9801	10	0.56958	D	0.05	-7.5135	15.438	0.75162	0.0:0.0:1.0:0.0	.	113;220;220	Q59FN8;O94973-2;O94973	.;.;AP2A2_HUMAN	Q	60;220;220;220;220;220;93	ENSP00000437228:E60Q;ENSP00000436059:E220Q;ENSP00000413234:E220Q;ENSP00000327694:E220Q	ENSP00000328024:E93Q	E	+	1	0	AP2A2	971252	1.000000	0.71417	0.593000	0.28771	0.485000	0.33311	9.468000	0.97676	2.053000	0.61076	0.591000	0.81541	GAA		0.468	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		3	25	0	0	0	0.009096	0	3	25				
MUC2	4583	broad.mit.edu	37	11	1085772	1085772	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:1085772G>C	ENST00000441003.2	+	21	2720	c.2693G>C	c.(2692-2694)gGc>gCc	p.G898A	MUC2_ENST00000359061.5_Missense_Mutation_p.G898A	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	898	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.G898A(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|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;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCCTCACTGGGCTCATTCAGC	0.642																																							uc001lsx.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|breast(1)	2						c.(2692-2694)GGC>GCC		mucin 2 precursor	Pranlukast(DB01411)						89.0	95.0	93.0					11																	1085772		2106	4216	6322	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1085772G>C	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2693G>C	11.37:g.1085772G>C	ENSP00000415183:p.Gly898Ala						p.G898A	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	21	2720	+		all_cancers(49;1.08e-07)|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;0.191)	898			VWFD 3.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.2693G>C		.	.	.	.	.	.	.	.	.	.	g	11.80	1.746450	0.30955	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.58506	0.33;0.33	3.69	3.69	0.42338	.	0.608093	0.14625	U	0.308147	T	0.74786	0.3762	M	0.80508	2.5	0.18873	N	0.999984	P	0.46952	0.887	P	0.59221	0.854	T	0.67360	-0.5690	10	0.66056	D	0.02	.	15.612	0.76733	0.0:0.0:1.0:0.0	.	898	E7EUV1	.	A	898	ENSP00000415183:G898A;ENSP00000351956:G898A	ENSP00000351956:G898A	G	+	2	0	MUC2	1075772	0.989000	0.36119	0.537000	0.28052	0.780000	0.44128	1.892000	0.39748	1.914000	0.55421	0.486000	0.48141	GGC		0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		4	69	0	0	0	0.001168	0	4	69				
MUC5B	727897	broad.mit.edu	37	11	1272929	1272929	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:1272929C>G	ENST00000529681.1	+	31	14877	c.14819C>G	c.(14818-14820)tCt>tGt	p.S4940C	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S4943C	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4940					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S4940C(1)|p.S4895C(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCCACTTCTCTACTCCCTGC	0.582																																							uc009ycr.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(15784-15786)TCT>TGT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							53.0	59.0	57.0					11																	1272929		2100	4219	6319	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1272929C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14819C>G	11.37:g.1272929C>G	ENSP00000436812:p.Ser4940Cys					MUC5B_uc001ltb.2_Missense_Mutation_p.S4943C	p.S5262C	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	52	15911	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4940					O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.15785C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	8.267	0.812407	0.16537	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.22945	1.93;2.23	3.42	3.42	0.39159	.	.	.	.	.	T	0.35364	0.0929	L	0.34521	1.04	0.09310	N	1	D;D	0.76494	0.999;0.999	P;P	0.60012	0.867;0.867	T	0.11842	-1.0571	9	0.87932	D	0	.	12.6366	0.56687	0.0:1.0:0.0:0.0	.	5262;4943	A7Y9J9;E9PBJ0	.;.	C	4940;4943;4884;4639	ENSP00000436812:S4940C;ENSP00000415793:S4943C	ENSP00000343037:S4884C	S	+	2	0	MUC5B	1229505	0.000000	0.05858	0.003000	0.11579	0.024000	0.10985	0.396000	0.20867	1.869000	0.54173	0.555000	0.69702	TCT		0.582	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		10	41	0	0	0	0.000978	0	10	41				
INS-IGF2	723961	broad.mit.edu	37	11	2182027	2182027	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:2182027C>T	ENST00000397270.1	-	2	233	c.175G>A	c.(175-177)Gag>Aag	p.E59K	INS_ENST00000381330.4_Missense_Mutation_p.E59K|INS-IGF2_ENST00000481781.1_5'Flank|INS_ENST00000512523.1_Missense_Mutation_p.E59K|INS_ENST00000250971.3_Missense_Mutation_p.E59K|INS_ENST00000397262.1_Missense_Mutation_p.E59K	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough	59						extracellular region (GO:0005576)		p.E59K(2)		haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		TGCAGGTCCTCTGCCTCCCGG	0.662																																							uc001lvm.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(175-177)GAG>AAG		insulin- insulin-like growth factor 2							51.0	55.0	54.0					11																	2182027		2200	4297	6497	SO:0001583	missense	723961				glucose metabolic process	extracellular region	hormone activity	g.chr11:2182027C>T	DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965			33527	other	readthrough						16531418	Standard	NM_001042376		Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.175G>A	11.37:g.2182027C>T	ENSP00000380440:p.Glu59Lys					INS-IGF2_uc001lvi.2_RNA|INS_uc001lvn.1_Missense_Mutation_p.E59K|INS_uc001lvo.1_Missense_Mutation_p.E59K|INS_uc009ydg.1_Missense_Mutation_p.E59K	p.E59K	NM_001042376	NP_001035835	Q1WM24	Q1WM24_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)	2	234	-		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	59					Q1WM24	Missense_Mutation	SNP	ENST00000397270.1	37	c.175G>A	CCDS41598.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036101	0.54896	.	.	ENSG00000129965;ENSG00000254647;ENSG00000254647;ENSG00000254647;ENSG00000254647;ENSG00000254647	ENST00000397270;ENST00000397262;ENST00000250971;ENST00000381330;ENST00000421783;ENST00000512523	D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.26	4.02	3.08	0.35506	Insulin-like (4);	0.247960	0.39985	N	0.001215	D	0.93618	0.7962	M	0.86573	2.825	0.30646	N	0.755961	D;D;P	0.59767	0.986;0.986;0.827	P;P;P	0.62813	0.875;0.907;0.52	D	0.91159	0.4959	10	0.39692	T	0.17	.	12.5353	0.56138	0.0:0.8302:0.1698:0.0	.	59;59;59	A6XGL2;P01308;F8WCM5	.;INS_HUMAN;.	K	59	ENSP00000380440:E59K;ENSP00000380432:E59K;ENSP00000250971:E59K;ENSP00000370731:E59K;ENSP00000408400:E59K;ENSP00000424008:E59K	ENSP00000250971:E59K	E	-	1	0	INS;INS-IGF2	2138603	0.983000	0.35010	0.097000	0.21041	0.342000	0.28953	4.516000	0.60496	0.792000	0.33850	0.557000	0.71058	GAG		0.662	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000388404.1	NM_001042376.2		9	58	0	0	0	0.006214	0	9	58				
OR52B4	143496	broad.mit.edu	37	11	4388697	4388697	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:4388697G>C	ENST00000408920.2	-	1	919	c.829C>G	c.(829-831)Ccg>Gcg	p.P277A		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	277					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P277A(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTAGCCAACGGGATGTGGATA	0.463																																							uc010qye.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(829-831)CCG>GCG		olfactory receptor, family 52, subfamily B,							113.0	119.0	117.0					11																	4388697		2017	4171	6188	SO:0001583	missense	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4388697G>C	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.829C>G	11.37:g.4388697G>C	ENSP00000386160:p.Pro277Ala						p.P277A	NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	829	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	277			Helical; Name=7; (Potential).		A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	c.829C>G	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	G	3.356	-0.131509	0.06753	.	.	ENSG00000221996	ENST00000408920	T	0.00036	8.86	4.97	-4.35	0.03656	GPCR, rhodopsin-like superfamily (1);	0.379278	0.18860	N	0.129176	T	0.00073	0.0002	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47761	-0.9092	10	0.87932	D	0	.	15.1683	0.72846	0.2762:0.0:0.7238:0.0	.	277	Q8NGK2	O52B4_HUMAN	A	277	ENSP00000386160:P277A	ENSP00000386160:P277A	P	-	1	0	OR52B4	4345273	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.921000	0.01569	-0.703000	0.05049	-0.254000	0.11334	CCG		0.463	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		9	105	0	0	0	0.008291	0	9	105				
MMP26	56547	broad.mit.edu	37	11	4825626	4825626	+	Intron	SNP	G	G	T	rs367940501		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:4825626G>T	ENST00000380390.1	+	1	72				OR52R1_ENST00000356069.2_5'Flank|OR52R1_ENST00000380382.1_Missense_Mutation_p.D74E|MMP26_ENST00000477339.1_Intron			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)	p.D74E(1)		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)	GGTTAATATGGTCTCTGCTGG	0.453																																							uc010qym.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(220-222)GAC>GAA		olfactory receptor, family 52, subfamily R,							105.0	97.0	100.0					11																	4825626		2201	4298	6499	SO:0001627	intron_variant	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825626G>T	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+37055G>T	11.37:g.4825626G>T							p.D74E	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	222	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	Error:Variant_position_missing_in_Q8NGF1_after_alignment					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.222C>A	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320382	0.23994	.	.	ENSG00000176937	ENST00000380382	T	0.36340	1.26	5.07	-3.9	0.04181	.	.	.	.	.	T	0.16214	0.0390	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26395	-1.0104	5	.	.	.	.	0.257	0.00213	0.2265:0.234:0.2469:0.2926	.	.	.	.	E	74	ENSP00000369742:D74E	.	D	-	3	2	OR52R1	4782202	0.060000	0.20803	0.000000	0.03702	0.002000	0.02628	0.755000	0.26405	-0.444000	0.07170	-0.275000	0.10095	GAC		0.453	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		12	72	1	0	4.3838e-07	0.001855	5.42926e-07	12	72				
OR51L1	119682	broad.mit.edu	37	11	5020955	5020955	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:5020955G>C	ENST00000321543.1	+	1	743	c.743G>C	c.(742-744)tGt>tCt	p.C248S		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C248S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCATATCTGTGTGGTGCTT	0.438																																							uc010qyu.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(742-744)TGT>TCT		olfactory receptor, family 51, subfamily L,							224.0	195.0	205.0					11																	5020955		2201	4298	6499	SO:0001583	missense	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5020955G>C	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.743G>C	11.37:g.5020955G>C	ENSP00000322156:p.Cys248Ser						p.C248S	NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	743	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	248			Helical; Name=6; (Potential).		Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	c.743G>C	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	G	8.356	0.831939	0.16820	.	.	ENSG00000176798	ENST00000321543	T	0.36520	1.25	5.43	5.43	0.79202	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000289	T	0.39436	0.1078	M	0.62088	1.915	0.21386	N	0.999708	B	0.18461	0.028	B	0.15052	0.012	T	0.19647	-1.0299	10	0.37606	T	0.19	.	17.9684	0.89105	0.0:0.0:1.0:0.0	.	248	Q8NGJ5	O51L1_HUMAN	S	248	ENSP00000322156:C248S	ENSP00000322156:C248S	C	+	2	0	OR51L1	4977531	0.979000	0.34478	0.216000	0.23742	0.298000	0.27526	2.468000	0.45102	2.822000	0.97130	0.650000	0.86243	TGT		0.438	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		11	44	0	0	0	0.008291	0	11	44				
OR51I1	390063	broad.mit.edu	37	11	5462512	5462512	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:5462512G>C	ENST00000380211.1	-	1	232	c.233C>G	c.(232-234)tCt>tGt	p.S78C	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	78					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)	p.S78C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGAAGTGTAGAAAAGGACAC	0.468																																							uc010qze.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(232-234)TCT>TGT		olfactory receptor, family 51, subfamily I,							138.0	128.0	131.0					11																	5462512		2201	4297	6498	SO:0001583	missense	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462512G>C	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.233C>G	11.37:g.5462512G>C	ENSP00000369559:p.Ser78Cys					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.S78C	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	233	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	78			Extracellular (Potential).		B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	c.233C>G	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281215	0.59758	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.00340	8.04	5.88	5.88	0.94601	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000036	T	0.00815	0.0027	M	0.73372	2.23	0.34403	D	0.695463	D	0.76494	0.999	D	0.79784	0.993	T	0.76443	-0.2957	10	0.37606	T	0.19	.	18.9727	0.92721	0.0:0.0:1.0:0.0	.	78	Q9H343	O51I1_HUMAN	C	63;75;78	ENSP00000369559:S78C	ENSP00000348350:S63C	S	-	2	0	OR51I1	5419088	0.051000	0.20477	0.998000	0.56505	0.884000	0.51177	2.395000	0.44459	2.829000	0.97493	0.551000	0.68910	TCT		0.468	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		3	100	0	0	0	0.004672	0	3	100				
MRGPRX3	117195	broad.mit.edu	37	11	18159487	18159487	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:18159487G>A	ENST00000396275.2	+	3	1099	c.738G>A	c.(736-738)tgG>tgA	p.W246*		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.W246*(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ACCTGGATTGGAAAGTCTTAT	0.512																																							uc001mnu.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(736-738)TGG>TGA		MAS-related GPR, member X3							108.0	105.0	106.0					11																	18159487		2200	4293	6493	SO:0001587	stop_gained	117195					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18159487G>A		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.738G>A	11.37:g.18159487G>A	ENSP00000379571:p.Trp246*						p.W246*	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN			3	1099	+			246			Extracellular (Potential).		B0M0L1|Q8TDE0|Q8TDE1	Nonsense_Mutation	SNP	ENST00000396275.2	37	c.738G>A	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	G	8.070	0.770100	0.15983	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	.	.	.	1.46	-2.93	0.05598	.	3.955300	0.00397	N	0.000042	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	0.5399	0.00644	0.1785:0.2882:0.1837:0.3496	.	.	.	.	X	246	.	ENSP00000379571:W246X	W	+	3	0	MRGPRX3	18116063	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.583000	0.00904	-1.752000	0.01325	-0.714000	0.03626	TGG		0.512	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1	NM_054031		12	89	0	0	0	0.001368	0	12	89				
SLC17A6	57084	broad.mit.edu	37	11	22399054	22399054	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:22399054C>A	ENST00000263160.3	+	12	1954	c.1517C>A	c.(1516-1518)gCa>gAa	p.A506E		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	506					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.A506E(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CAACCCTGGGCAGACCCGGAG	0.408																																							uc001mqk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1516-1518)GCA>GAA		solute carrier family 17 (sodium-dependent							63.0	69.0	67.0					11																	22399054		2202	4300	6502	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22399054C>A	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.1517C>A	11.37:g.22399054C>A	ENSP00000263160:p.Ala506Glu						p.A506E	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			12	1930	+			506			Cytoplasmic (Potential).		A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.1517C>A	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.141596	0.77775	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.58060	0.36	5.85	5.85	0.93711	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.75917	0.3915	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.73711	-0.3897	10	0.36615	T	0.2	.	20.1588	0.98128	0.0:1.0:0.0:0.0	.	506	Q9P2U8	VGLU2_HUMAN	E	506;394	ENSP00000263160:A506E	ENSP00000263160:A506E	A	+	2	0	SLC17A6	22355630	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.770000	0.95276	0.563000	0.77884	GCA		0.408	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		9	49	1	0	0.000274275	0.004482	0.000310257	9	49				
CAPRIN1	4076	broad.mit.edu	37	11	34101277	34101277	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:34101277C>T	ENST00000341394.4	+	7	980	c.791C>T	c.(790-792)tCa>tTa	p.S264L	CAPRIN1_ENST00000530820.1_Missense_Mutation_p.S264L|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.S183L|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.S264L|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.S264L	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	264					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S264L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GAGGCAGCCTCAGCACCTGCA	0.428																																							uc001mvh.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(790-792)TCA>TTA		membrane component chromosome 11 surface marker							91.0	82.0	85.0					11																	34101277		2202	4298	6500	SO:0001583	missense	4076				negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding	g.chr11:34101277C>T	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.791C>T	11.37:g.34101277C>T	ENSP00000340329:p.Ser264Leu					CAPRIN1_uc001mvg.2_Missense_Mutation_p.S264L|CAPRIN1_uc001mvi.2_Missense_Mutation_p.S264L|CAPRIN1_uc001mvj.1_Missense_Mutation_p.S183L	p.S264L	NM_005898	NP_005889	Q14444	CAPR1_HUMAN			7	980	+		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)	264					A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	37	c.791C>T	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402237	0.25291	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.66	4.75	0.60458	.	0.567395	0.18763	N	0.131823	T	0.15305	0.0369	N	0.08118	0	0.32672	N	0.516727	B;B	0.24533	0.105;0.0	B;B	0.21708	0.036;0.001	T	0.10359	-1.0633	10	0.36615	T	0.2	-6.0354	14.9068	0.70727	0.0:0.9313:0.0:0.0687	.	264;264	Q14444;Q14444-2	CAPR1_HUMAN;.	L	264;264;264;264;183	ENSP00000340329:S264L;ENSP00000374296:S264L;ENSP00000434150:S264L;ENSP00000434204:S264L;ENSP00000431581:S183L	ENSP00000340329:S264L	S	+	2	0	CAPRIN1	34057853	0.981000	0.34729	0.977000	0.42913	0.031000	0.12232	3.198000	0.51035	1.537000	0.49254	-0.154000	0.13518	TCA		0.428	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	NM_005898		12	45	0	0	0	0.000978	0	12	45				
NAT10	55226	broad.mit.edu	37	11	34167643	34167643	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:34167643G>A	ENST00000257829.3	+	29	3188	c.2982G>A	c.(2980-2982)agG>agA	p.R994R	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Silent_p.R922R|NAT10_ENST00000532555.1_3'UTR	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	994	Lys-rich.|Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)	p.R994R(1)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				ACAAGAAAAGGAAGTTAGAGG	0.343																																							uc001mvk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2980-2982)AGG>AGA		N-acetyltransferase 10 isoform a							76.0	85.0	82.0					11																	34167643		2202	4298	6500	SO:0001819	synonymous_variant	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34167643G>A	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2982G>A	11.37:g.34167643G>A						NAT10_uc010ren.1_Silent_p.R922R	p.R994R	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN			29	3226	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	994			Lys-rich.|Required for localization to the nucleolus and midbody.		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Silent	SNP	ENST00000257829.3	37	c.2982G>A	CCDS7889.1																																																																																				0.343	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		8	26	0	0	0	0.004482	0	8	26				
LRP4	4038	broad.mit.edu	37	11	46917795	46917795	+	Silent	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:46917795A>T	ENST00000378623.1	-	9	1256	c.1014T>A	c.(1012-1014)ggT>ggA	p.G338G		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	338	LDL-receptor class A 8. {ECO:0000255|PROSITE-ProRule:PRU00124}.				dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.G338G(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGCTGTTGTCACCACAGTCGT	0.587																																							uc001ndn.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1012-1014)GGT>GGA		low density lipoprotein receptor-related protein							95.0	91.0	93.0					11																	46917795		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46917795A>T	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1014T>A	11.37:g.46917795A>T							p.G338G	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	9	1160	-			338			Extracellular (Potential).|LDL-receptor class A 8.		B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.1014T>A	CCDS31478.1																																																																																				0.587	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		15	76	0	0	0	0.00245	0	15	76				
OR4S2	219431	broad.mit.edu	37	11	55418616	55418616	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:55418616G>C	ENST00000312422.2	+	1	237	c.237G>C	c.(235-237)atG>atC	p.M79I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M79I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CTCCCAAGATGATTGTTGACC	0.428																																							uc001nhs.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(235-237)ATG>ATC		olfactory receptor, family 4, subfamily S,							243.0	198.0	214.0					11																	55418616		2184	4045	6229	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418616G>C	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.237G>C	11.37:g.55418616G>C	ENSP00000310337:p.Met79Ile						p.M79I	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	237	+		all_epithelial(135;0.0748)	79			Extracellular (Potential).		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.237G>C	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037949	0.35989	.	.	ENSG00000174982	ENST00000312422	T	0.05513	3.43	5.36	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.197768	0.35970	N	0.002873	T	0.08758	0.0217	M	0.68593	2.085	0.30986	N	0.721998	B	0.32350	0.366	B	0.23852	0.049	T	0.02909	-1.1095	10	0.72032	D	0.01	.	11.9043	0.52701	0.0:0.0:0.576:0.4239	.	79	Q8NH73	OR4S2_HUMAN	I	79	ENSP00000310337:M79I	ENSP00000310337:M79I	M	+	3	0	OR4S2	55175192	0.002000	0.14202	0.987000	0.45799	0.938000	0.57974	0.005000	0.13129	1.235000	0.43724	0.549000	0.68633	ATG		0.428	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		50	227	0	0	0	0.00361	0	50	227				
OR4C6	219432	broad.mit.edu	37	11	55433216	55433216	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:55433216A>G	ENST00000314259.3	+	1	603	c.574A>G	c.(574-576)Atc>Gtc	p.I192V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I192V(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGACACCCACATCCTGGGCCT	0.443																																							uc001nht.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(574-576)ATC>GTC		olfactory receptor, family 4, subfamily C,							138.0	123.0	128.0					11																	55433216		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433216A>G	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.574A>G	11.37:g.55433216A>G	ENSP00000324769:p.Ile192Val					OR4C6_uc010rik.1_Missense_Mutation_p.I192V	p.I192V	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	839	+			192			Extracellular (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.574A>G	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.920889	0.00498	.	.	ENSG00000181903	ENST00000314259	T	0.00130	8.69	4.07	0.228	0.15364	GPCR, rhodopsin-like superfamily (1);	0.905654	0.09076	N	0.852121	T	0.00073	0.0002	N	0.03238	-0.38	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.08046	-1.0741	10	0.02654	T	1	.	7.7949	0.29141	0.613:0.0:0.387:0.0	.	192	Q8NH72	OR4C6_HUMAN	V	192	ENSP00000324769:I192V	ENSP00000324769:I192V	I	+	1	0	OR4C6	55189792	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.865000	0.04250	0.050000	0.15949	0.444000	0.29173	ATC		0.443	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		24	105	0	0	0	0.00333	0	24	105				
OR5L2	26338	broad.mit.edu	37	11	55595424	55595424	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:55595424C>A	ENST00000378397.1	+	1	730	c.730C>A	c.(730-732)Cac>Aac	p.H244N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H244N(1)		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)				CTGTGCCTCCCACCTCACAGC	0.498										HNSCC(27;0.073)																													uc001nhy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(730-732)CAC>AAC		olfactory receptor, family 5, subfamily L,							157.0	137.0	144.0					11																	55595424		2200	4296	6496	SO:0001583	missense	26338				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55595424C>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.730C>A	11.37:g.55595424C>A	ENSP00000367650:p.His244Asn	HNSCC(27;0.073)					p.H244N	NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN			1	730	+		all_epithelial(135;0.208)	244			Helical; Name=6; (Potential).		Q6IF66|Q96RB2	Missense_Mutation	SNP	ENST00000378397.1	37	c.730C>A	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	13.89	2.372731	0.42003	.	.	ENSG00000205030	ENST00000378397	T	0.00314	8.14	5.24	3.36	0.38483	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000035	T	0.01092	0.0036	H	0.97491	4.015	0.39480	D	0.967865	D	0.76494	0.999	D	0.74674	0.984	T	0.37641	-0.9697	10	0.87932	D	0	-23.5768	11.4392	0.50086	0.0:0.8554:0.0:0.1446	.	244	Q8NGL0	OR5L2_HUMAN	N	244	ENSP00000367650:H244N	ENSP00000367650:H244N	H	+	1	0	OR5L2	55352000	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	5.780000	0.68956	0.714000	0.32081	0.632000	0.83419	CAC		0.498	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	NM_001004739		16	150	1	0	2.31682e-05	0.003163	2.71484e-05	16	150				
OR8J1	219477	broad.mit.edu	37	11	56127760	56127760	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:56127760T>C	ENST00000303039.3	+	1	70	c.38T>C	c.(37-39)aTt>aCt	p.I13T		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I13T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					ACTGAGTTTATTCTTACAGGT	0.448																																							uc010rjh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(37-39)ATT>ACT		olfactory receptor, family 8, subfamily J,							75.0	79.0	78.0					11																	56127760		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56127760T>C	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.38T>C	11.37:g.56127760T>C	ENSP00000304060:p.Ile13Thr						p.I13T	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	38	+	Esophageal squamous(21;0.00448)		13			Extracellular (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.38T>C	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	T	9.930	1.214700	0.22289	.	.	ENSG00000172487	ENST00000303039	T	0.01015	5.44	4.68	4.68	0.58851	.	0.292022	0.29579	N	0.011743	T	0.02119	0.0066	M	0.72353	2.195	0.24389	N	0.994751	P	0.35527	0.507	B	0.38842	0.283	T	0.20840	-1.0263	10	0.66056	D	0.02	.	13.2522	0.60057	0.0:0.0:0.0:1.0	.	13	Q8NGP2	OR8J1_HUMAN	T	13	ENSP00000304060:I13T	ENSP00000304060:I13T	I	+	2	0	OR8J1	55884336	0.006000	0.16342	0.586000	0.28679	0.200000	0.23975	1.664000	0.37439	1.874000	0.54306	0.523000	0.50628	ATT		0.448	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		22	121	0	0	0	0.005443	0	22	121				
MS4A5	64232	broad.mit.edu	37	11	60215231	60215231	+	Nonstop_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:60215231G>T	ENST00000300190.2	+	5	688	c.602G>T	c.(601-603)tGa>tTa	p.*201L		NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	0						integral component of membrane (GO:0016021)		p.*201L(1)		large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						CAATGTTGTTGACTAGCACTG	0.363																																							uc001npo.2		NA																	1	Nonstop extension(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(601-603)TGA>TTA		membrane-spanning 4-domains, subfamily A, member							157.0	155.0	156.0					11																	60215231		2203	4300	6503	SO:0001578	stop_lost	64232					integral to membrane	receptor activity	g.chr11:60215231G>T	AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.602G>T	11.37:g.60215231G>T	ENSP00000300190:p.*201Leuext*4						p.*201L	NM_023945	NP_076434	Q9H3V2	MS4A5_HUMAN			5	688	+			201					Q9BZH1	Nonstop_Mutation	SNP	ENST00000300190.2	37	c.602G>T	CCDS7987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.111|8.111	0.778855|0.778855	0.16120|0.16120	.|.	.|.	ENSG00000166930|ENSG00000166930	ENST00000528905|ENST00000300190	.|.	.|.	.|.	4.54|4.54	1.44|1.44	0.22558|0.22558	.|.	.|.	.|.	.|.	.|.	T|.	0.24661|.	0.0598|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.21655|.	-1.0239|.	4|.	.|.	.|.	.|.	.|.	4.2234|4.2234	0.10568|0.10568	0.2097:0.1916:0.5986:0.0|0.2097:0.1916:0.5986:0.0	.|.	.|.	.|.	.|.	F|L	123|201	.|.	.|.	L|X	+|+	3|2	2|2	MS4A5|MS4A5	59971807|59971807	0.001000|0.001000	0.12720|0.12720	0.009000|0.009000	0.14445|0.14445	0.017000|0.017000	0.09413|0.09413	0.059000|0.059000	0.14322|0.14322	0.650000|0.650000	0.30769|0.30769	0.467000|0.467000	0.42956|0.42956	TTG|TGA		0.363	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1			19	99	1	0	3.51602e-12	0.008871	4.82528e-12	19	99				
MS4A8	83661	broad.mit.edu	37	11	60482498	60482498	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:60482498C>T	ENST00000300226.2	+	6	742	c.539C>T	c.(538-540)cCt>cTt	p.P180L		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	180						integral component of membrane (GO:0016021)		p.P180L(1)									cTACAGAACCCTGGAATGGCG	0.587																																							uc001npv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(538-540)CCT>CTT		membrane-spanning 4-domains, subfamily A, member							127.0	90.0	103.0					11																	60482498		2203	4300	6503	SO:0001583	missense	83661					integral to membrane	receptor activity	g.chr11:60482498C>T	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.539C>T	11.37:g.60482498C>T	ENSP00000300226:p.Pro180Leu						p.P180L	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN			6	742	+			180			Extracellular (Potential).		Q8TCA5	Missense_Mutation	SNP	ENST00000300226.2	37	c.539C>T	CCDS7990.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961787	0.34659	.	.	ENSG00000166959	ENST00000300226	T	0.01560	4.77	4.49	1.45	0.22620	.	0.655554	0.11922	U	0.516531	T	0.00875	0.0029	N	0.10945	0.07	0.09310	N	1	P	0.49185	0.92	B	0.38106	0.265	T	0.37103	-0.9720	10	0.09590	T	0.72	0.1199	3.8703	0.09033	0.1908:0.601:0.0:0.2082	.	180	Q9BY19	M4A8B_HUMAN	L	180	ENSP00000300226:P180L	ENSP00000300226:P180L	P	+	2	0	MS4A8B	60239074	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.041000	0.13927	0.505000	0.28104	0.655000	0.94253	CCT		0.587	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1			13	74	0	0	0	0.001855	0	13	74				
AHNAK	79026	broad.mit.edu	37	11	62299707	62299707	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:62299707C>A	ENST00000378024.4	-	5	2456	c.2182G>T	c.(2182-2184)Ggc>Tgc	p.G728C	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	728					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.G728C(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTTTGGGCCTTTGAGTTCT	0.473																																							uc001ntl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(2182-2184)GGC>TGC		AHNAK nucleoprotein isoform 1							270.0	241.0	251.0					11																	62299707		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62299707C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2182G>T	11.37:g.62299707C>A	ENSP00000367263:p.Gly728Cys					AHNAK_uc001ntk.1_Intron	p.G728C	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	2482	-		Melanoma(852;0.155)	728					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.2182G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962721	0.34659	.	.	ENSG00000124942	ENST00000378024	T	0.03094	4.05	5.42	4.5	0.54988	.	.	.	.	.	T	0.25121	0.0610	H	0.96430	3.82	0.24747	N	0.993003	D	0.89917	1.0	D	0.77557	0.99	T	0.26883	-1.0090	9	0.56958	D	0.05	-8.5423	8.3571	0.32338	0.1554:0.7657:0.0:0.0789	.	728	Q09666	AHNK_HUMAN	C	728	ENSP00000367263:G728C	ENSP00000367263:G728C	G	-	1	0	AHNAK	62056283	.	.	0.998000	0.56505	0.473000	0.32948	.	.	2.550000	0.86006	0.455000	0.32223	GGC		0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		74	388	1	0	5.04879e-28	0.00361	7.79492e-28	74	388				
PDE2A	5138	broad.mit.edu	37	11	72289312	72289312	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:72289312G>T	ENST00000334456.5	-	30	2825	c.2580C>A	c.(2578-2580)atC>atA	p.I860I	PDE2A_ENST00000418754.2_Silent_p.I745I|PDE2A_ENST00000444035.2_Silent_p.I851I|PDE2A_ENST00000376450.3_Silent_p.I604I|PDE2A_ENST00000544570.1_Silent_p.I853I|PDE2A_ENST00000540345.1_Silent_p.I851I	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	860	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)	p.I860I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	CCATGAAGCTGATTTGCAGCT	0.572																																							uc010rrc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(2578-2580)ATC>ATA		phosphodiesterase 2A isoform 1	Sildenafil(DB00203)|Sulindac(DB00605)						217.0	175.0	189.0					11																	72289312		2200	4293	6493	SO:0001819	synonymous_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72289312G>T	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.2580C>A	11.37:g.72289312G>T						PDE2A_uc001oso.2_Silent_p.I839I|PDE2A_uc010rra.1_Silent_p.I853I|PDE2A_uc001osn.2_Silent_p.I604I|PDE2A_uc010rrb.1_Silent_p.I851I|PDE2A_uc010rrd.1_Silent_p.I745I	p.I860I	NM_002599	NP_002590	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		30	2823	-			860			Catalytic (By similarity).		B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	c.2580C>A	CCDS8216.1																																																																																				0.572	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		26	119	1	0	2.24059e-21	0.00632	3.35722e-21	26	119				
SLCO2B1	11309	broad.mit.edu	37	11	74876893	74876893	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:74876893G>T	ENST00000289575.5	+	4	742	c.347G>T	c.(346-348)cGa>cTa	p.R116L	SLCO2B1_ENST00000532236.1_5'UTR|SLCO2B1_ENST00000454962.2_5'UTR|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R94L|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000525650.1_Intron	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	116					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.R116L(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CACCGACCCCGAATGATTGGC	0.567																																							uc001owb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(346-348)CGA>CTA		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						153.0	147.0	149.0					11																	74876893		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74876893G>T	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.347G>T	11.37:g.74876893G>T	ENSP00000289575:p.Arg116Leu					SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Intron|SLCO2B1_uc010rrs.1_5'UTR|SLCO2B1_uc001owc.2_5'UTR|SLCO2B1_uc001owd.2_Missense_Mutation_p.R94L	p.R116L	NM_007256	NP_009187	O94956	SO2B1_HUMAN			4	734	+			116			Helical; Name=3; (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.347G>T	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509111	0.64410	.	.	ENSG00000137491	ENST00000289575;ENST00000527180;ENST00000534186;ENST00000428359	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	4.24	4.24	0.50183	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000001	T	0.69405	0.3107	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.73824	-0.3861	9	.	.	.	.	14.1582	0.65430	0.0:0.0:1.0:0.0	.	116	O94956	SO2B1_HUMAN	L	116;94;94;94	ENSP00000289575:R116L;ENSP00000436513:R94L;ENSP00000433872:R94L;ENSP00000388912:R94L	.	R	+	2	0	SLCO2B1	74554541	1.000000	0.71417	0.866000	0.34008	0.135000	0.20990	8.806000	0.91930	2.180000	0.69256	0.563000	0.77884	CGA		0.567	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		24	141	1	0	2.12542e-12	0.00632	2.92565e-12	24	141				
SLCO2B1	11309	broad.mit.edu	37	11	74880441	74880441	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:74880441C>T	ENST00000289575.5	+	5	1067	c.672C>T	c.(670-672)ccC>ccT	p.P224P	SLCO2B1_ENST00000532236.1_Silent_p.P108P|SLCO2B1_ENST00000454962.2_Intron|SLCO2B1_ENST00000341411.4_Intron|SLCO2B1_ENST00000428359.2_Silent_p.P202P|SLCO2B1_ENST00000526660.1_Intron|SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000525650.1_Silent_p.P80P	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	224					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.P224P(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	GCAACTCGCCCCTCTACCTCG	0.607																																							uc001owb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(670-672)CCC>CCT		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						70.0	66.0	68.0					11																	74880441		2200	4293	6493	SO:0001819	synonymous_variant	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74880441C>T	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.672C>T	11.37:g.74880441C>T						SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Silent_p.P80P|SLCO2B1_uc010rrs.1_Silent_p.P108P|SLCO2B1_uc001owc.2_Intron|SLCO2B1_uc001owd.2_Silent_p.P202P	p.P224P	NM_007256	NP_009187	O94956	SO2B1_HUMAN			5	1059	+			224			Cytoplasmic (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Silent	SNP	ENST00000289575.5	37	c.672C>T	CCDS8235.1																																																																																				0.607	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		8	47	0	0	0	0.004482	0	8	47				
TYR	7299	broad.mit.edu	37	11	89018116	89018116	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:89018116G>A	ENST00000263321.5	+	4	1862	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	454					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)	p.D454N(1)		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)	CTATCTACAAGATTCAGGTAA	0.338																																							uc001pcs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1360-1362)GAT>AAT		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						50.0	52.0	52.0					11																	89018116		2201	4296	6497	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.chr11:89018116G>A	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.1360G>A	11.37:g.89018116G>A	ENSP00000263321:p.Asp454Asn						p.D454N	NM_000372	NP_000363	P14679	TYRO_HUMAN			4	1442	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	454			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.1360G>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758801	0.49468	.	.	ENSG00000077498	ENST00000263321	D	0.99143	-5.48	5.01	5.01	0.66863	Uncharacterised domain, di-copper centre (2);	0.855211	0.10610	N	0.654630	D	0.96602	0.8891	N	0.25485	0.75	0.45205	D	0.998215	B	0.09022	0.002	B	0.06405	0.002	D	0.92772	0.6233	9	.	.	.	.	12.7186	0.57129	0.0793:0.0:0.9207:0.0	.	454	P14679	TYRO_HUMAN	N	454	ENSP00000263321:D454N	.	D	+	1	0	TYR	88657764	1.000000	0.71417	0.990000	0.47175	0.923000	0.55619	7.524000	0.81866	2.341000	0.79615	0.555000	0.69702	GAT		0.338	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		14	70	0	0	0	0.003163	0	14	70				
Unknown	0	broad.mit.edu	37	11	89819274	89819275	+	IGR	DNP	GG	GG	TT			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:89819274_89819275GG>TT								TRIM49C (12716 upstream) : SNORD56 (32283 downstream)																							AAACTTTTCTGGTGAAATGTGC	0.391																																							uc010rub.1		NA																	0					0						c.(157-159)GGT>TTT		upstream binding transcription factor, RNA																																				SO:0001628	intergenic_variant	642623				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr11:89819274_89819275GG>TT																													11.37:g.89819274_89819275delinsTT							p.G53F	NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN			1	157_158	+			53						Missense_Mutation	DNP		37	c.157_158GG>TT																																																																																				0	0.391									14	97	0	0	0	0.004672	0	14	97				
FAT3	120114	broad.mit.edu	37	11	92616312	92616312	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:92616312C>A	ENST00000298047.6	+	23	12707	c.12690C>A	c.(12688-12690)gtC>gtA	p.V4230V	FAT3_ENST00000533797.1_Silent_p.V565V|FAT3_ENST00000525166.1_Silent_p.V4080V|FAT3_ENST00000409404.2_Silent_p.V4230V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4230					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V4230V(2)|p.V805V(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCCGCAGGTCCCCGTGCGCC	0.657										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(12688-12690)GTC>GTA		FAT tumor suppressor homolog 3							60.0	74.0	69.0					11																	92616312		1984	4148	6132	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616312C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12690C>A	11.37:g.92616312C>A		TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Silent_p.V670V	p.V4230V	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			23	12707	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4230			Cytoplasmic (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.12690C>A																																																																																					0.657	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		27	148	1	0	1.30897e-18	0.009535	1.93592e-18	27	148				
FAT3	120114	broad.mit.edu	37	11	92616507	92616507	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:92616507C>A	ENST00000298047.6	+	23	12902	c.12885C>A	c.(12883-12885)tgC>tgA	p.C4295*	FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000533797.1_Nonsense_Mutation_p.C630*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.C4145*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.C4295*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4295					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C4295*(2)|p.C870*(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTCACCCTGCCGCTCCGACT	0.637										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	3	Substitution - Nonsense(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(12883-12885)TGC>TGA		FAT tumor suppressor homolog 3							26.0	31.0	29.0					11																	92616507		1963	4002	5965	SO:0001587	stop_gained	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92616507C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12885C>A	11.37:g.92616507C>A	ENSP00000298047:p.Cys4295*	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Nonsense_Mutation_p.C735*	p.C4295*	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			23	12902	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4295			Cytoplasmic (Potential).		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37	c.12885C>A		.	.	.	.	.	.	.	.	.	.	C	39	7.905986	0.98554	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	.	.	.	5.64	3.18	0.36537	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	11.1208	0.48289	0.0:0.7102:0.0:0.2897	.	.	.	.	X	4295;4295;4145;630	.	ENSP00000298047:C4295X	C	+	3	2	FAT3	92256155	0.577000	0.26708	1.000000	0.80357	0.984000	0.73092	-0.178000	0.09782	1.223000	0.43536	0.655000	0.94253	TGC		0.637	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		13	26	1	0	3.27435e-08	0.00245	4.23903e-08	13	26				
ROBO4	54538	broad.mit.edu	37	11	124761263	124761263	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:124761263C>T	ENST00000306534.3	-	12	2365	c.1880G>A	c.(1879-1881)cGc>cAc	p.R627H	RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.R482H	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	627					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)	p.R627H(1)		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)		GAGTCCCCTGCGGCTGCAGAG	0.637																																							uc001qbg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1879-1881)CGC>CAC		roundabout homolog 4, magic roundabout							33.0	36.0	35.0					11																	124761263		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124761263C>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.1880G>A	11.37:g.124761263C>T	ENSP00000304945:p.Arg627His					ROBO4_uc010sas.1_Missense_Mutation_p.R482H|ROBO4_uc001qbh.2_Missense_Mutation_p.R517H|ROBO4_uc001qbi.2_Missense_Mutation_p.R185H|ROBO4_uc010sat.1_Missense_Mutation_p.R185H	p.R627H	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	12	2020	-	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)	627					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.1880G>A	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	C	8.171	0.791687	0.16258	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.63255	-0.03;0.34	5.92	0.184	0.15086	.	0.612195	0.13767	N	0.364170	T	0.45895	0.1365	L	0.36672	1.1	0.09310	N	1	B;B;B	0.19935	0.008;0.025;0.04	B;B;B	0.09377	0.003;0.004;0.003	T	0.32161	-0.9917	10	0.45353	T	0.12	.	6.2064	0.20606	0.0:0.5206:0.137:0.3423	.	627;517;627	Q8WZ75-2;Q8WZ75-3;Q8WZ75	.;.;ROBO4_HUMAN	H	627;517;482	ENSP00000304945:R627H;ENSP00000437129:R482H	ENSP00000304945:R627H	R	-	2	0	ROBO4	124266473	0.001000	0.12720	0.212000	0.23672	0.464000	0.32679	-0.365000	0.07573	0.095000	0.17434	-1.106000	0.02097	CGC		0.637	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		5	41	0	0	0	0.001168	0	5	41				
WNK1	65125	broad.mit.edu	37	12	1005335	1005335	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:1005335G>A	ENST00000315939.6	+	24	6325	c.5682G>A	c.(5680-5682)gtG>gtA	p.V1894V	WNK1_ENST00000537687.1_Silent_p.V2154V|WNK1_ENST00000535572.1_Silent_p.V1646V|WNK1_ENST00000530271.2_Silent_p.V2392V|WNK1_ENST00000340908.4_Silent_p.V1487V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1894					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.V2154V(1)|p.V1894V(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGTCCTCAGTGCTATCAAGTA	0.468																																					Colon(19;451 567 6672 12618 28860)	Colon(19;451 567 6672 12618 28860)	uc001qio.3		NA																	2	Substitution - coding silent(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(5680-5682)GTG>GTA		WNK lysine deficient protein kinase 1							86.0	85.0	85.0					12																	1005335		2203	4300	6503	SO:0001819	synonymous_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:1005335G>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5682G>A	12.37:g.1005335G>A						WNK1_uc001qip.3_Silent_p.V1646V|WNK1_uc001qir.3_Silent_p.V1067V	p.V1894V	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		24	6189	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1894					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	c.5682G>A	CCDS8506.1																																																																																				0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		36	58	0	0	0	0.004878	0	36	58				
ITFG2	55846	broad.mit.edu	37	12	2927444	2927444	+	Splice_Site	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:2927444G>A	ENST00000228799.2	+	4	545		c.e4+1		ITFG2_ENST00000419778.2_Intron|ITFG2_ENST00000542548.1_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2						germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGCGACATCGGTGGGCATGCC	0.552																																							uc001qlb.1		NA																	1	Unknown(1)		lung(1)		0						c.e4+1		integrin alpha FG-GAP repeat containing 2							135.0	101.0	113.0					12																	2927444		2203	4300	6503	SO:0001630	splice_region_variant	55846							g.chr12:2927444G>A	AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.406+1G>A	12.37:g.2927444G>A						ITFG2_uc001qla.1_Missense_Mutation_p.G136D|ITFG2_uc010seb.1_Intron|ITFG2_uc010sec.1_RNA	p.D136_splice	NM_018463	NP_060933	Q969R8	ITFG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		4	470	+								A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Splice_Site	SNP	ENST00000228799.2	37	c.406_splice	CCDS8513.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491926	0.84962	.	.	ENSG00000111203	ENST00000228799	.	.	.	4.69	4.69	0.59074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7762	0.85551	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITFG2	2797705	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.611000	0.98342	2.430000	0.82344	0.655000	0.94253	.		0.552	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253091.1	NM_018463	Intron	3	26	0	0	0	0.004672	0	3	26				
GRIN2B	2904	broad.mit.edu	37	12	13906652	13906652	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:13906652G>A	ENST00000609686.1	-	3	818	c.609C>T	c.(607-609)ctC>ctT	p.L203L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	203					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|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)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.L203L(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGTCCAGTAGGAGGACCTCCT	0.478																																							uc001rbt.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(607-609)CTC>CTT		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						136.0	133.0	134.0					12																	13906652		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13906652G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.609C>T	12.37:g.13906652G>A							p.L203L	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			3	788	-			203			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.609C>T	CCDS8662.1																																																																																				0.478	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			19	124	0	0	0	0.006122	0	19	124				
SYT10	341359	broad.mit.edu	37	12	33592449	33592449	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:33592449G>A	ENST00000228567.3	-	1	305	c.9C>T	c.(7-9)ttC>ttT	p.F3F	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	3					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.F3F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CCTCCTTGTGGAAACTCATCG	0.542																																							uc001rll.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(7-9)TTC>TTT		synaptotagmin X							258.0	233.0	241.0					12																	33592449		2203	4300	6503	SO:0001819	synonymous_variant	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33592449G>A	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.9C>T	12.37:g.33592449G>A						SYT10_uc009zju.1_5'UTR	p.F3F	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			1	306	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		3			Vesicular (Potential).		Q495U2	Silent	SNP	ENST00000228567.3	37	c.9C>T	CCDS8732.1																																																																																				0.542	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		21	167	0	0	0	0.008871	0	21	167				
COL2A1	1280	broad.mit.edu	37	12	48370306	48370306	+	Silent	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:48370306A>T	ENST00000380518.3	-	49	3644	c.3480T>A	c.(3478-3480)tcT>tcA	p.S1160S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.S1091S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1160	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.S1160S(1)|p.S1091S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTCTAGGGCCAGAAGGACCAG	0.547																																							uc001rqu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(3478-3480)TCT>TCA		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						80.0	70.0	73.0					12																	48370306		2203	4300	6503	SO:0001819	synonymous_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48370306A>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3480T>A	12.37:g.48370306A>T						COL2A1_uc001rqt.2_5'Flank|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.S1091S	p.S1160S	NM_001844	NP_001835	P02458	CO2A1_HUMAN			49	3661	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	1160			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	c.3480T>A	CCDS41778.1																																																																																				0.547	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		5	41	0	0	0	0.000602	0	5	41				
GPD1	2819	broad.mit.edu	37	12	50498490	50498490	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:50498490G>A	ENST00000301149.3	+	2	407	c.175G>A	c.(175-177)Gag>Aag	p.E59K	GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Missense_Mutation_p.E59K	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	59					cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)	p.E59K(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CACGCAGCATGAGAATGTCAA	0.547																																					NSCLC(141;1402 1905 9497 13391 44868)	NSCLC(141;1402 1905 9497 13391 44868)	uc001rvz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(175-177)GAG>AAG		glycerol-3-phosphate dehydrogenase 1 (soluble)	NADH(DB00157)						113.0	102.0	106.0					12																	50498490		2203	4300	6503	SO:0001583	missense	2819				glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity	g.chr12:50498490G>A		CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813	ENST00000301149.3:c.175G>A	12.37:g.50498490G>A	ENSP00000301149:p.Glu59Lys					GPD1_uc010smp.1_Missense_Mutation_p.E59K|GPD1_uc001rwa.2_Missense_Mutation_p.E59K	p.E59K	NM_005276	NP_005267	P21695	GPDA_HUMAN			2	208	+			59					F8W1L5|Q8N1B0	Missense_Mutation	SNP	ENST00000301149.3	37	c.175G>A	CCDS8799.1	.	.	.	.	.	.	.	.	.	.	G	36	5.711157	0.96821	.	.	ENSG00000167588	ENST00000301149;ENST00000547190;ENST00000548814	T;T	0.60424	0.19;0.6	5.44	5.44	0.79542	Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.82208	0.4987	M	0.92122	3.275	0.80722	D	1	D;D;D	0.76494	0.999;0.989;0.999	D;D;D	0.71656	0.974;0.929;0.969	D	0.85839	0.1396	10	0.66056	D	0.02	-21.0981	19.6661	0.95893	0.0:0.0:1.0:0.0	.	59;59;59	B4DJ37;F8W1L5;P21695	.;.;GPDA_HUMAN	K	59	ENSP00000301149:E59K;ENSP00000446768:E59K	ENSP00000301149:E59K	E	+	1	0	GPD1	48784757	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.952000	0.87827	2.724000	0.93272	0.561000	0.74099	GAG		0.547	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406018.1			15	83	0	0	0	0.006122	0	15	83				
KRT78	196374	broad.mit.edu	37	12	53242431	53242432	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:53242431_53242432GG>TT	ENST00000304620.4	-	1	346_347	c.283_284CC>AA	c.(283-285)CCa>AAa	p.P95K	KRT78_ENST00000359499.4_5'Flank	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	95	Head.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.P95K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						AATCTTCAGTGGGGTCAGCAGA	0.589																																							uc001sbc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(283-285)CCA>AAA		keratin 5b																																				SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53242431_53242432GG>TT	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.283_284delinsTT	12.37:g.53242431_53242432delinsTT	ENSP00000306261:p.Pro95Lys						p.P95K	NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN			1	347_348	-			95			Head.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	DNP	ENST00000304620.4	37	c.283_284CC>AA	CCDS8840.1																																																																																				0.589	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		8	40	0	0	0	0.004672	0	8	40				
CALCOCO1	57658	broad.mit.edu	37	12	54115361	54115361	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:54115361C>G	ENST00000550804.1	-	6	708	c.648G>C	c.(646-648)agG>agC	p.R216S	CALCOCO1_ENST00000547885.1_5'Flank|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.R216S|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.R183S|CALCOCO1_ENST00000548263.1_Missense_Mutation_p.R216S			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	216					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.R216S(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TCAGGATGTCCCTCTCTTCTG	0.537																																							uc001sef.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(646-648)AGG>AGC		coiled-coil transcriptional coactivator isoform							343.0	317.0	326.0					12																	54115361		2203	4300	6503	SO:0001583	missense	57658				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr12:54115361C>G	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.648G>C	12.37:g.54115361C>G	ENSP00000449960:p.Arg216Ser					CALCOCO1_uc010som.1_Missense_Mutation_p.R183S|CALCOCO1_uc010son.1_Missense_Mutation_p.R93S|CALCOCO1_uc001seh.2_Missense_Mutation_p.R216S|CALCOCO1_uc009znd.2_Missense_Mutation_p.R216S|CALCOCO1_uc001seg.2_Missense_Mutation_p.R93S|CALCOCO1_uc010soo.1_Missense_Mutation_p.R209S	p.R216S	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN			6	792	-			216					B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	ENST00000550804.1	37	c.648G>C	CCDS8864.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475055	0.63737	.	.	ENSG00000012822	ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935;ENST00000454332	T;T;T;T	0.11604	2.76;2.76;2.76;2.76	5.0	2.1	0.27182	.	0.000000	0.47093	D	0.000254	T	0.07999	0.0200	N	0.20685	0.6	0.37942	D	0.93236	D;P;P;P;P;P	0.53312	0.959;0.818;0.902;0.902;0.818;0.92	P;B;B;B;B;B	0.49085	0.6;0.287;0.318;0.415;0.378;0.371	T	0.40213	-0.9575	10	0.12430	T	0.62	-21.8834	7.787	0.29097	0.0:0.6547:0.0:0.3453	.	209;183;216;216;183;216	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2	.;.;.;.;.;CACO1_HUMAN	S	183;216;154;216;216;209;93	ENSP00000397189:R183S;ENSP00000262059:R216S;ENSP00000447647:R216S;ENSP00000449960:R216S	ENSP00000262059:R216S	R	-	3	2	CALCOCO1	52401628	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.567000	0.23608	0.612000	0.30071	0.563000	0.77884	AGG		0.537	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407233.2	NM_020898		69	402	0	0	0	0.00361	0	69	402				
SMARCC2	6601	broad.mit.edu	37	12	56567617	56567617	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:56567617C>T	ENST00000267064.4	-	17	1599	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E505K|SMARCC2_ENST00000394023.3_Missense_Mutation_p.E505K|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E505K	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	505	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.E505K(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCCCACTGTTCTAGGAAGGCA	0.567																																							uc001skb.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(1513-1515)GAA>AAA		SWI/SNF-related matrix-associated							136.0	132.0	133.0					12																	56567617		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56567617C>T	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1513G>A	12.37:g.56567617C>T	ENSP00000267064:p.Glu505Lys					SMARCC2_uc001skd.2_Missense_Mutation_p.E505K|SMARCC2_uc001ska.2_Missense_Mutation_p.E505K|SMARCC2_uc001skc.2_Missense_Mutation_p.E505K|SMARCC2_uc010sqf.1_Missense_Mutation_p.E394K	p.E505K	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		17	1619	-			505			SWIRM.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.1513G>A	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102049	0.94245	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T	0.58940	0.38;0.39;0.3	4.87	4.87	0.63330	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.120460	0.53938	D	0.000050	D	0.84660	0.5521	H	0.97291	3.975	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.996;0.997;0.997;0.996	D;D;D;D;D	0.77004	0.989;0.981;0.989;0.989;0.981	D	0.90184	0.4245	10	0.87932	D	0	-3.5751	17.7113	0.88322	0.0:1.0:0.0:0.0	.	394;505;510;505;505	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	K	505	ENSP00000449396:E505K;ENSP00000302919:E505K;ENSP00000267064:E505K	ENSP00000267064:E505K	E	-	1	0	SMARCC2	54853884	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.726000	0.84824	2.651000	0.90000	0.551000	0.68910	GAA		0.567	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			36	171	0	0	0	0.00623	0	36	171				
CNOT2	4848	broad.mit.edu	37	12	70732251	70732251	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:70732251C>T	ENST00000418359.3	+	11	1380	c.929C>T	c.(928-930)tCa>tTa	p.S310L	CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000229195.3_Missense_Mutation_p.S310L	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	310					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)	p.S310L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AAGACAACTTCAAGTACAGAT	0.333																																							uc001svv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(928-930)TCA>TTA		CCR4-NOT transcription complex, subunit 2							77.0	78.0	78.0					12																	70732251		2203	4300	6503	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70732251C>T	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.929C>T	12.37:g.70732251C>T	ENSP00000412091:p.Ser310Leu					CNOT2_uc009zro.2_Missense_Mutation_p.S310L|CNOT2_uc009zrp.2_Missense_Mutation_p.S290L|CNOT2_uc009zrq.2_Missense_Mutation_p.S310L|CNOT2_uc001svw.1_Missense_Mutation_p.S50L	p.S310L	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		10	1508	+	Renal(347;0.236)		310					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.929C>T	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978269	0.53720	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000552915;ENST00000548159;ENST00000551043;ENST00000550155	T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.47	5.47	0.80525	.	0.117136	0.64402	D	0.000011	T	0.66366	0.2782	M	0.64404	1.975	0.80722	D	1	P;B	0.43352	0.804;0.012	B;B	0.39068	0.289;0.005	T	0.68010	-0.5522	10	0.38643	T	0.18	-4.8962	19.3164	0.94215	0.0:1.0:0.0:0.0	.	310;310	Q9NZN8-4;Q9NZN8	.;CNOT2_HUMAN	L	310;310;310;173;249;301;310;120	ENSP00000450318:S310L;ENSP00000229195:S310L;ENSP00000412091:S310L;ENSP00000448490:S173L;ENSP00000447497:S249L;ENSP00000449659:S301L;ENSP00000449260:S310L;ENSP00000448499:S120L	ENSP00000229195:S310L	S	+	2	0	CNOT2	69018518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.560000	0.86352	0.591000	0.81541	TCA		0.333	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			17	117	0	0	0	0.007413	0	17	117				
PTPRR	5801	broad.mit.edu	37	12	71286464	71286464	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:71286464C>T	ENST00000283228.2	-	2	804	c.352G>A	c.(352-354)Gtg>Atg	p.V118M		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	118					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)	p.V118M(1)		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)		CTTACCACCACAATTACATTT	0.408																																							uc001swi.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(352-354)GTG>ATG		protein tyrosine phosphatase, receptor type, R							153.0	141.0	145.0					12																	71286464		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.chr12:71286464C>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.352G>A	12.37:g.71286464C>T	ENSP00000283228:p.Val118Met						p.V118M	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)	2	768	-			118			Extracellular (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.352G>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	C	14.14	2.446857	0.43429	.	.	ENSG00000153233	ENST00000283228	T	0.04194	3.68	6.05	4.99	0.66335	.	0.354000	0.19644	U	0.109366	T	0.04497	0.0123	N	0.19112	0.55	0.80722	D	1	P	0.43477	0.808	B	0.42555	0.391	T	0.36432	-0.9748	10	0.87932	D	0	-8.8965	9.2406	0.37493	0.0:0.7374:0.1419:0.1207	.	118	Q15256	PTPRR_HUMAN	M	118	ENSP00000283228:V118M	ENSP00000283228:V118M	V	-	1	0	PTPRR	69572731	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	1.083000	0.30815	2.878000	0.98634	0.650000	0.86243	GTG		0.408	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		20	168	0	0	0	0.001882	0	20	168				
NAV3	89795	broad.mit.edu	37	12	78513530	78513530	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:78513530G>C	ENST00000397909.2	+	15	3727	c.3554G>C	c.(3553-3555)gGg>gCg	p.G1185A	NAV3_ENST00000266692.7_Missense_Mutation_p.G1185A|NAV3_ENST00000228327.6_Missense_Mutation_p.G1185A|NAV3_ENST00000536525.2_Missense_Mutation_p.G1185A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1185	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.G1185A(1)		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						ACTAAAATTGGGTCAGGGCGC	0.507										HNSCC(70;0.22)																													uc001syp.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(3553-3555)GGG>GCG		neuron navigator 3							76.0	81.0	79.0					12																	78513530		1930	4120	6050	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513530G>C	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.3554G>C	12.37:g.78513530G>C	ENSP00000381007:p.Gly1185Ala	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.G1185A|NAV3_uc010sub.1_Missense_Mutation_p.G685A|NAV3_uc009zsf.2_Missense_Mutation_p.G193A	p.G1185A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			15	3727	+			1185			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.3554G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.91|12.91	2.078542|2.078542	0.36662|0.36662	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692|ENST00000552895	T;T;T;T|.	0.25085|.	1.82;1.82;1.82;1.82|.	5.55|5.55	4.66|4.66	0.58398|0.58398	.|.	0.000000|.	0.40908|.	U|.	0.000995|.	T|T	0.57344|0.57344	0.2047|0.2047	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	B;D;D;B|.	0.89917|.	0.089;1.0;0.999;0.005|.	B;D;D;B|.	0.91635|.	0.109;0.999;0.996;0.007|.	T|T	0.53697|0.53697	-0.8402|-0.8402	10|5	0.02654|.	T|.	1|.	-7.8428|-7.8428	16.5784|16.5784	0.84707|0.84707	0.0:0.1304:0.8696:0.0|0.0:0.1304:0.8696:0.0	.|.	1185;1185;1185;1185|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	A|C	1185|256	ENSP00000446132:G1185A;ENSP00000381007:G1185A;ENSP00000228327:G1185A;ENSP00000266692:G1185A|.	ENSP00000228327:G1185A|.	G|W	+|+	2|3	0|0	NAV3|NAV3	77037661|77037661	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.991000|0.991000	0.79684|0.79684	6.197000|6.197000	0.72100|0.72100	1.332000|1.332000	0.45431|0.45431	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.507	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		15	55	0	0	0	0.00245	0	15	55				
MYF6	4618	broad.mit.edu	37	12	81102736	81102736	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:81102736G>C	ENST00000228641.3	+	3	948	c.726G>C	c.(724-726)aaG>aaC	p.K242N		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	242					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K242N(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TGGTGGAGAAGTAACTGAGCC	0.512																																							uc001szf.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(724-726)AAG>AAC		myogenic factor 6							88.0	75.0	80.0					12																	81102736		2203	4300	6503	SO:0001583	missense	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81102736G>C		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.726G>C	12.37:g.81102736G>C	ENSP00000228641:p.Lys242Asn						p.K242N	NM_002469	NP_002460	P23409	MYF6_HUMAN			3	779	+			242					B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	ENST00000228641.3	37	c.726G>C	CCDS9019.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890283	0.52014	.	.	ENSG00000111046	ENST00000228641	D	0.96940	-4.18	5.6	4.52	0.55395	.	0.288814	0.41294	D	0.000909	D	0.95404	0.8508	L	0.33485	1.01	0.36522	D	0.870197	D	0.71674	0.998	D	0.73708	0.981	D	0.92545	0.6045	10	0.09084	T	0.74	-13.7227	11.1665	0.48545	0.1366:0.0:0.8634:0.0	.	242	P23409	MYF6_HUMAN	N	242	ENSP00000228641:K242N	ENSP00000228641:K242N	K	+	3	2	MYF6	79626867	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.258000	0.32944	2.638000	0.89438	0.591000	0.81541	AAG		0.512	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		10	48	0	0	0	0.006214	0	10	48				
UHRF1BP1L	23074	broad.mit.edu	37	12	100453138	100453138	+	Silent	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:100453138T>A	ENST00000279907.7	-	14	2129	c.1917A>T	c.(1915-1917)acA>acT	p.T639T	UHRF1BP1L_ENST00000545232.2_Silent_p.T289T	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	639								p.T639T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AGCTGGTATATGTTTTACTAA	0.333																																							uc001tgq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1915-1917)ACA>ACT		UHRF1 (ICBP90) binding protein 1-like isoform a							44.0	50.0	48.0					12																	100453138		2202	4297	6499	SO:0001819	synonymous_variant	23074							g.chr12:100453138T>A		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1917A>T	12.37:g.100453138T>A						UHRF1BP1L_uc001tgp.2_Silent_p.T289T	p.T639T	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			14	2146	-			639					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	ENST00000279907.7	37	c.1917A>T	CCDS31882.1																																																																																				0.333	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		10	70	0	0	0	0.008291	0	10	70				
SYCP3	50511	broad.mit.edu	37	12	102122937	102122937	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:102122937C>T	ENST00000392927.3	-	8	738	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	SYCP3_ENST00000266743.2_Missense_Mutation_p.E203K|SYCP3_ENST00000392924.1_Missense_Mutation_p.E203K	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	203	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E203K(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTTTTAAATTCATTTTGTGCA	0.279																																							uc001tiq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(607-609)GAA>AAA		synaptonemal complex protein 3							68.0	72.0	70.0					12																	102122937		2200	4289	6489	SO:0001583	missense	50511				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	g.chr12:102122937C>T	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.607G>A	12.37:g.102122937C>T	ENSP00000376658:p.Glu203Lys					CHPT1_uc001tip.1_3'UTR|SYCP3_uc001tir.2_Missense_Mutation_p.E203K|SYCP3_uc001tis.2_Missense_Mutation_p.E203K	p.E203K	NM_153694	NP_710161	Q8IZU3	SYCP3_HUMAN			8	739	-			203			Potential.|Gln-rich.			Missense_Mutation	SNP	ENST00000392927.3	37	c.607G>A	CCDS9087.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.518086	0.85495	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.37	4.48	0.54585	.	0.188111	0.44285	N	0.000464	T	0.78310	0.4263	M	0.80508	2.5	0.58432	D	0.999993	D	0.76494	0.999	D	0.77557	0.99	T	0.78334	-0.2244	9	0.35671	T	0.21	-8.8847	13.7728	0.63036	0.0:0.9257:0.0:0.0743	.	203	Q8IZU3	SYCP3_HUMAN	K	203	.	ENSP00000266743:E203K	E	-	1	0	SYCP3	100647068	1.000000	0.71417	0.987000	0.45799	0.969000	0.65631	6.813000	0.75231	1.258000	0.44101	0.455000	0.32223	GAA		0.279	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		10	62	0	0	0	0.001855	0	10	62				
GCN1L1	10985	broad.mit.edu	37	12	120587749	120587749	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:120587749C>T	ENST00000300648.6	-	35	4420	c.4408G>A	c.(4408-4410)Gat>Aat	p.D1470N		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1470					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.D1470N(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGTTTCCATCCCCAAAGCAC	0.547																																							uc001txo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(4408-4410)GAT>AAT		GCN1 general control of amino-acid synthesis							71.0	73.0	72.0					12																	120587749		2071	4213	6284	SO:0001583	missense	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120587749C>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.4408G>A	12.37:g.120587749C>T	ENSP00000300648:p.Asp1470Asn						p.D1470N	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			35	4421	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1470			HEAT 7.		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	c.4408G>A	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	C	36	5.601098	0.96614	.	.	ENSG00000089154	ENST00000300648	T	0.74315	-0.83	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91140	0.7210	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93725	0.7036	10	0.87932	D	0	-15.1628	19.1915	0.93669	0.0:1.0:0.0:0.0	.	1470	Q92616	GCN1L_HUMAN	N	1470	ENSP00000300648:D1470N	ENSP00000300648:D1470N	D	-	1	0	GCN1L1	119072132	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.583000	0.82559	2.519000	0.84933	0.561000	0.74099	GAT		0.547	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			12	60	0	0	0	0.000978	0	12	60				
SETD8	387893	broad.mit.edu	37	12	123892056	123892056	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:123892056G>C	ENST00000402868.3	+	8	1291	c.865G>C	c.(865-867)Gag>Cag	p.E289Q	SETD8_ENST00000330479.4_Missense_Mutation_p.E289Q			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	330	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)	p.E289Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		TGCAACTAGAGAGACAAATCG	0.507																																							uc001uew.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(865-867)GAG>CAG		SET domain-containing 8							91.0	69.0	77.0					12																	123892056		2203	4300	6503	SO:0001583	missense	387893				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity	g.chr12:123892056G>C	AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.865G>C	12.37:g.123892056G>C	ENSP00000384629:p.Glu289Gln					SETD8_uc001uex.2_Missense_Mutation_p.E224Q	p.E289Q	NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)	8	907	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		330			SET.		A8K9D0|Q86W83|Q8TD09	Missense_Mutation	SNP	ENST00000402868.3	37	c.865G>C	CCDS9247.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517397	0.85495	.	.	ENSG00000183955	ENST00000402868;ENST00000330479;ENST00000437502	D;D;D	0.81908	-1.55;-1.55;-1.55	5.12	5.12	0.69794	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.89100	0.6619	M	0.64260	1.97	0.80722	D	1	D;D	0.60575	0.988;0.974	P;P	0.60609	0.877;0.662	D	0.90005	0.4117	10	0.72032	D	0.01	-15.6887	18.9378	0.92592	0.0:0.0:1.0:0.0	.	330;289	Q9NQR1;Q9NQR1-2	SETD8_HUMAN;.	Q	289;289;280	ENSP00000384629:E289Q;ENSP00000332995:E289Q;ENSP00000413811:E280Q	ENSP00000332995:E289Q	E	+	1	0	SETD8	122458009	1.000000	0.71417	0.957000	0.39632	0.970000	0.65996	9.772000	0.98984	2.550000	0.86006	0.655000	0.94253	GAG		0.507	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318263.1	NM_020382		8	55	0	0	0	0.00308	0	8	55				
TMEM132D	121256	broad.mit.edu	37	12	129558563	129558563	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:129558563C>T	ENST00000422113.2	-	9	3483	c.3157G>A	c.(3157-3159)Gtc>Atc	p.V1053I	TMEM132D_ENST00000389441.4_Missense_Mutation_p.V591I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1053					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.V1053I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCTGAGGAGACGGCGGTGAAG	0.512																																							uc009zyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(3157-3159)GTC>ATC		transmembrane protein 132D precursor							150.0	149.0	150.0					12																	129558563		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129558563C>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3157G>A	12.37:g.129558563C>T	ENSP00000408581:p.Val1053Ile					TMEM132D_uc001uia.2_Missense_Mutation_p.V591I	p.V1053I	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	3485	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	1053			Cytoplasmic (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.3157G>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.724132	0.00694	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.09255	3.0;3.82	4.16	-1.63	0.08345	.	0.300125	0.27143	N	0.020725	T	0.01592	0.0051	N	0.00178	-1.915	0.28378	N	0.919699	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.42189	-0.9466	9	.	.	.	-15.0377	4.8606	0.13581	0.0:0.1772:0.2965:0.5263	.	1053;591	Q14C87;Q14C87-2	T132D_HUMAN;.	I	591;1053	ENSP00000374092:V591I;ENSP00000408581:V1053I	.	V	-	1	0	TMEM132D	128124516	0.982000	0.34865	0.009000	0.14445	0.081000	0.17604	0.111000	0.15458	-0.527000	0.06374	0.563000	0.77884	GTC		0.512	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		25	129	0	0	0	0.003954	0	25	129				
SFSWAP	6433	broad.mit.edu	37	12	132262626	132262626	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:132262626C>T	ENST00000261674.4	+	14	2300	c.2159C>T	c.(2158-2160)cCc>cTc	p.P720L	SFSWAP_ENST00000541286.1_Missense_Mutation_p.P720L	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	720					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)	p.P720L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGCACTACGCCCTGCCCTCTA	0.448																																							uc001uja.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2158-2160)CCC>CTC		splicing factor, arginine/serine-rich 8							45.0	49.0	48.0					12																	132262626		2203	4300	6503	SO:0001583	missense	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132262626C>T	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2159C>T	12.37:g.132262626C>T	ENSP00000261674:p.Pro720Leu					SFRS8_uc010tbn.1_Missense_Mutation_p.P720L|SFRS8_uc001ujb.1_Missense_Mutation_p.P513L	p.P720L	NM_004592	NP_004583	Q12872	SFSWA_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)	14	2299	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		720					B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	ENST00000261674.4	37	c.2159C>T	CCDS9273.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.85|13.85	2.360791|2.360791	0.41801|0.41801	.|.	.|.	ENSG00000061936|ENSG00000061936	ENST00000261674;ENST00000535236;ENST00000541286|ENST00000537164	T;T;T|T	0.26660|0.23754	2.76;1.72;2.75|1.89	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.304838|0.304838	0.41194|0.41194	D|N	0.000940|0.000940	T|T	0.46112|0.46112	0.1376|0.1376	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	P;B|.	0.34724|.	0.465;0.335|.	B;B|.	0.34242|.	0.178;0.086|.	T|T	0.18461|0.18461	-1.0336|-1.0336	10|8	0.37606|0.52906	T|T	0.19|0.07	-10.4643|-10.4643	19.9036|19.9036	0.96999|0.96999	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	720;720|.	F5H6B8;Q12872|.	.;SFSWA_HUMAN|.	L|S	720;513;720|283	ENSP00000261674:P720L;ENSP00000443045:P513L;ENSP00000437738:P720L|ENSP00000439957:P283S	ENSP00000261674:P720L|ENSP00000439957:P283S	P|P	+|+	2|1	0|0	SFSWAP|SFSWAP	130828579|130828579	0.156000|0.156000	0.22821|0.22821	0.933000|0.933000	0.37362|0.37362	0.037000|0.037000	0.13140|0.13140	3.778000|3.778000	0.55371|0.55371	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	CCC|CCT		0.448	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		10	64	0	0	0	0.001368	0	10	64				
GALNT9	50614	broad.mit.edu	37	12	132688113	132688113	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr12:132688113G>T	ENST00000328957.8	-	7	1199	c.1200C>A	c.(1198-1200)gcC>gcA	p.A400A	GALNT9_ENST00000541995.1_Silent_p.A34A|GALNT9_ENST00000397325.2_Silent_p.A34A|GALNT9_ENST00000535228.1_Silent_p.A151A	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	400					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	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)	p.A34A(1)|p.A400A(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		ACACCTCGGCGGCGCGCAGGG	0.647																																					Colon(186;2147 2752 13553 41466)	Colon(186;2147 2752 13553 41466)	uc001ukc.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1198-1200)GCC>GCA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							71.0	84.0	80.0					12																	132688113		2179	4272	6451	SO:0001819	synonymous_variant	50614				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:132688113G>T	AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000328957.8:c.1200C>A	12.37:g.132688113G>T						GALNT9_uc009zyr.2_Silent_p.A174A|GALNT9_uc001ukb.2_Silent_p.A257A|GALNT9_uc001uka.2_Silent_p.A34A	p.A400A	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)	7	1316	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)	400			Lumenal (Potential).		Q52LR8|Q6NT54|Q8NFR1	Silent	SNP	ENST00000328957.8	37	c.1200C>A		.	.	.	.	.	.	.	.	.	.	g	8.419	0.846026	0.16963	.	.	ENSG00000182870	ENST00000411988	.	.	.	3.87	-7.75	0.01236	.	.	.	.	.	T	0.36248	0.0960	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42616	-0.9441	4	.	.	.	.	2.6764	0.05082	0.1685:0.1158:0.4212:0.2945	.	.	.	.	S	173	.	.	R	-	1	0	GALNT9	131254066	0.000000	0.05858	0.250000	0.24296	0.891000	0.51852	-5.077000	0.00153	-3.006000	0.00274	-0.537000	0.04273	CGC		0.647	GALNT9-009	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000402967.1	NM_001122636		7	47	1	0	8.12818e-05	0.001984	9.47597e-05	7	47				
SACS	26278	broad.mit.edu	37	13	23904722	23904722	+	Silent	SNP	C	C	T	rs369776806		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:23904722C>T	ENST00000382292.3	-	9	13566	c.13293G>A	c.(13291-13293)agG>agA	p.R4431R	SACS_ENST00000382298.3_Silent_p.R4431R|SACS_ENST00000402364.1_Silent_p.R3681R			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4431					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.R4431R(1)|p.R4284R(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAACAAAGAACCTTTGAGAGT	0.473																																							uc001uon.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(13291-13293)AGG>AGA		sacsin		C		0,4406		0,0,2203	79.0	84.0	83.0		13293	0.8	0.9	13		83	1,8599		0,1,4299	no	coding-synonymous	SACS	NM_014363.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		4431/4580	23904722	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23904722C>T	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.13293G>A	13.37:g.23904722C>T						SACS_uc001uoo.2_Silent_p.R4284R|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.R4431R	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	13882	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4431					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	c.13293G>A	CCDS9300.2																																																																																				0.473	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		20	128	0	0	0	0.007413	0	20	128				
SLC7A1	6541	broad.mit.edu	37	13	30106979	30106979	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:30106979T>C	ENST00000380752.5	-	4	897	c.511A>G	c.(511-513)Ata>Gta	p.I171V		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	171					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.I171V(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ATGAGAATTATGATCACTGCG	0.507																																							uc001uso.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(511-513)ATA>GTA		solute carrier family 7 (cationic amino acid	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						122.0	123.0	123.0					13																	30106979		2203	4300	6503	SO:0001583	missense	6541				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity	g.chr13:30106979T>C	AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.511A>G	13.37:g.30106979T>C	ENSP00000370128:p.Ile171Val						p.I171V	NM_003045	NP_003036	P30825	CTR1_HUMAN		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	4	898	-		Lung SC(185;0.0257)|Breast(139;0.238)	171			Helical; (Potential).		Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	c.511A>G	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.456906	0.63401	.	.	ENSG00000139514	ENST00000380752	D	0.90955	-2.76	4.58	4.58	0.56647	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.90648	0.7067	L	0.47716	1.5	0.54753	D	0.999988	B	0.31227	0.314	P	0.45712	0.491	D	0.88579	0.3135	10	0.33141	T	0.24	.	13.5792	0.61891	0.0:0.0:0.0:1.0	.	171	P30825	CTR1_HUMAN	V	171	ENSP00000370128:I171V	ENSP00000370128:I171V	I	-	1	0	SLC7A1	29004979	1.000000	0.71417	0.816000	0.32577	0.980000	0.70556	4.882000	0.63121	2.053000	0.61076	0.533000	0.62120	ATA		0.507	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2	NM_003045		20	124	0	0	0	0.010504	0	20	124				
PDS5B	23047	broad.mit.edu	37	13	33268412	33268412	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:33268412G>A	ENST00000315596.10	+	14	1708	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	508					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.D508N(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TCAAGTAAAGGATTTGCTTGA	0.284																																							uc010abf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|pancreas(1)	4						c.(1522-1524)GAT>AAT		PDS5, regulator of cohesion maintenance, homolog							102.0	100.0	101.0					13																	33268412		1813	4062	5875	SO:0001583	missense	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33268412G>A	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1522G>A	13.37:g.33268412G>A	ENSP00000313851:p.Asp508Asn					PDS5B_uc010abg.2_RNA	p.D508N	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	14	1680	+		Lung SC(185;0.0367)	508					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	ENST00000315596.10	37	c.1522G>A	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139182	0.94560	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.69435	-0.4	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70072	0.3182	L	0.34521	1.04	0.80722	D	1	D	0.55385	0.971	P	0.57324	0.818	T	0.64084	-0.6490	10	0.19590	T	0.45	0.0161	19.3773	0.94517	0.0:0.0:1.0:0.0	.	508	Q9NTI5	PDS5B_HUMAN	N	508	ENSP00000313851:D508N	ENSP00000313851:D508N	D	+	1	0	PDS5B	32166412	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.639000	0.98448	2.577000	0.86979	0.655000	0.94253	GAT		0.284	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		29	141	0	0	0	0.003755	0	29	141				
FREM2	341640	broad.mit.edu	37	13	39262739	39262739	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:39262739G>C	ENST00000280481.7	+	1	1474	c.1258G>C	c.(1258-1260)Gca>Cca	p.A420P		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	420					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A420P(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCTAGAAGGAGCAGCTTCAGA	0.532																																							uc001uwv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(1258-1260)GCA>CCA		FRAS1-related extracellular matrix protein 2							75.0	84.0	81.0					13																	39262739		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39262739G>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1258G>C	13.37:g.39262739G>C	ENSP00000280481:p.Ala420Pro						p.A420P	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1567	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	420			Extracellular (Potential).|CSPG 2.		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1258G>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155302	0.78114	.	.	ENSG00000150893	ENST00000280481	T	0.20598	2.06	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.46367	0.1389	M	0.81802	2.56	0.80722	D	1	P	0.51147	0.942	P	0.56278	0.795	T	0.18650	-1.0330	10	0.34782	T	0.22	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	420	Q5SZK8	FREM2_HUMAN	P	420	ENSP00000280481:A420P	ENSP00000280481:A420P	A	+	1	0	FREM2	38160739	1.000000	0.71417	0.996000	0.52242	0.888000	0.51559	9.819000	0.99357	2.826000	0.97356	0.561000	0.74099	GCA		0.532	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		16	79	0	0	0	0.004007	0	16	79				
KBTBD6	89890	broad.mit.edu	37	13	41704889	41704889	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:41704889C>T	ENST00000379485.1	-	1	1993	c.1759G>A	c.(1759-1761)Gaa>Aaa	p.E587K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.E521K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	587								p.E587K(1)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATATCATATTCATACACAGTC	0.423																																							uc001uxu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1759-1761)GAA>AAA		kelch repeat and BTB (POZ) domain-containing 6							177.0	177.0	177.0					13																	41704889		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41704889C>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1759G>A	13.37:g.41704889C>T	ENSP00000368799:p.Glu587Lys					KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Missense_Mutation_p.E521K|uc001uxv.1_5'Flank	p.E587K	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	2048	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	587			Kelch 5.		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1759G>A	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	c	14.88	2.666532	0.47677	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.65549	-0.16;-0.16	3.21	2.32	0.28847	Kelch-type beta propeller (1);	0.063541	0.64402	D	0.000012	T	0.52435	0.1734	L	0.34521	1.04	0.34388	D	0.693826	P;P	0.46952	0.887;0.791	P;B	0.47044	0.535;0.354	T	0.59386	-0.7464	10	0.25751	T	0.34	.	9.9693	0.41743	0.0:0.7903:0.2097:0.0	.	521;587	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	587;521	ENSP00000368799:E587K;ENSP00000444326:E521K	ENSP00000368799:E587K	E	-	1	0	KBTBD6	40602889	1.000000	0.71417	0.981000	0.43875	0.982000	0.71751	2.517000	0.45529	0.649000	0.30751	0.462000	0.41574	GAA		0.423	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		20	147	0	0	0	0.010504	0	20	147				
TSC22D1	8848	broad.mit.edu	37	13	45149890	45149890	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:45149890C>G	ENST00000458659.2	-	1	811	c.321G>C	c.(319-321)aaG>aaC	p.K107N	TSC22D1_ENST00000501704.2_Missense_Mutation_p.K107N|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	107					negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K107N(1)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AGCCACTTTTCTTTTTCATTT	0.527																																							uc001uzn.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(319-321)AAG>AAC		TSC22 domain family, member 1 isoform 1							109.0	113.0	111.0					13																	45149890		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45149890C>G	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.321G>C	13.37:g.45149890C>G	ENSP00000397435:p.Lys107Asn					TSC22D1_uc001uzo.1_Missense_Mutation_p.K107N	p.K107N	NM_183422	NP_904358	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	812	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	107					B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.321G>C	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663589	0.67700	.	.	ENSG00000102804	ENST00000458659;ENST00000501704;ENST00000493016	T;T;T	0.26067	1.76;1.76;1.76	4.44	4.44	0.53790	.	0.000000	0.56097	D	0.000040	T	0.49389	0.1554	M	0.66939	2.045	0.53005	D	0.999965	D;D	0.89917	0.996;1.0	D;D	0.83275	0.99;0.996	T	0.51942	-0.8641	10	0.59425	D	0.04	.	15.7941	0.78394	0.0:1.0:0.0:0.0	.	107;107	B3KRL7;Q15714	.;T22D1_HUMAN	N	107	ENSP00000397435:K107N;ENSP00000437414:K107N;ENSP00000418739:K107N	ENSP00000397435:K107N	K	-	3	2	TSC22D1	44047890	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.862000	0.69560	2.289000	0.77006	0.491000	0.48974	AAG		0.527	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		19	97	0	0	0	0.010504	0	19	97				
NEK5	341676	broad.mit.edu	37	13	52639651	52639651	+	Silent	SNP	G	G	A	rs56086016	byFrequency	TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:52639651G>A	ENST00000355568.4	-	22	2158	c.2019C>T	c.(2017-2019)gaC>gaT	p.D673D		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	673					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.D705D(1)|p.D673D(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGGAGGTGATGTCGGCCACTG	0.607													G|||	9	0.00179712	0.0	0.0	5008	,	,		17827	0.0089		0.0	False		,,,				2504	0.0						uc001vge.2		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(2017-2019)GAC>GAT		NIMA-related kinase 5							128.0	103.0	111.0					13																	52639651		2203	4300	6503	SO:0001819	synonymous_variant	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52639651G>A	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.2019C>T	13.37:g.52639651G>A							p.D673D	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	22	2159	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	673					Q5TAP5	Silent	SNP	ENST00000355568.4	37	c.2019C>T	CCDS31979.1																																																																																				0.607	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		18	85	0	0	0	0.007413	0	18	85				
OLFM4	10562	broad.mit.edu	37	13	53624888	53624888	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:53624888C>A	ENST00000219022.2	+	5	1593	c.1515C>A	c.(1513-1515)gtC>gtA	p.V505V		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	505	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.V505V(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATCTTTCTGTCTTGCAGAAGC	0.373																																							uc001vhl.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1513-1515)GTC>GTA		olfactomedin 4 precursor							66.0	68.0	67.0					13																	53624888		2203	4299	6502	SO:0001819	synonymous_variant	10562				cell adhesion	extracellular space		g.chr13:53624888C>A	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1515C>A	13.37:g.53624888C>A						OLFM4_uc001vhk.1_3'UTR	p.V505V	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	5	1515	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	505			Olfactomedin-like.		O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	c.1515C>A	CCDS9440.1																																																																																				0.373	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		12	77	1	0	1.08611e-07	0.000978	1.38259e-07	12	77				
GAS6	2621	broad.mit.edu	37	13	114535424	114535424	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr13:114535424C>T	ENST00000327773.6	-	10	1137	c.991G>A	c.(991-993)Gag>Aag	p.E331K	GAS6_ENST00000357389.3_Missense_Mutation_p.E374K|GAS6_ENST00000418959.3_Missense_Mutation_p.E32K|GAS6_ENST00000450766.1_Missense_Mutation_p.E58K|GAS6_ENST00000355761.4_Missense_Mutation_p.E277K|GAS6-AS1_ENST00000458001.1_RNA	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	374					activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)	p.E331K(1)		central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				AGGATGCCCTCGGGGTCAAAG	0.652																																							uc001vud.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)	4						c.(991-993)GAG>AAG		growth arrest-specific 6 isoform 1 precursor							51.0	49.0	50.0					13																	114535424		2199	4288	6487	SO:0001583	missense	2621				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity	g.chr13:114535424C>T		CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.991G>A	13.37:g.114535424C>T	ENSP00000331831:p.Glu331Lys					GAS6_uc001vug.2_Missense_Mutation_p.E32K|GAS6_uc001vuf.2_Missense_Mutation_p.E58K	p.E331K	NM_000820	NP_000811	Q14393	GAS6_HUMAN			10	1144	-	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)	374			Laminin G-like 1.	Calcium; via carbonyl oxygen.	B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	ENST00000327773.6	37	c.991G>A	CCDS45072.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022353	0.93462	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000450766;ENST00000418959;ENST00000327773	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	4.66	4.66	0.58398	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	.	.	.	.	D	0.89567	0.6752	M	0.87456	2.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.998	D	0.91483	0.5206	9	0.62326	D	0.03	-30.2439	17.56	0.87903	0.0:1.0:0.0:0.0	.	374;58;331	Q14393;B3KVL4;Q14393-2	GAS6_HUMAN;.;.	K	374;277;58;32;331	ENSP00000349962:E374K;ENSP00000348003:E277K;ENSP00000416498:E58K;ENSP00000400117:E32K;ENSP00000331831:E331K	ENSP00000331831:E331K	E	-	1	0	GAS6	113578519	1.000000	0.71417	0.902000	0.35471	0.764000	0.43329	6.879000	0.75572	2.128000	0.65567	0.462000	0.41574	GAG		0.652	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045946.2	NM_000820		12	44	0	0	0	0.001368	0	12	44				
MYH6	4624	broad.mit.edu	37	14	23853733	23853733	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:23853733A>T	ENST00000356287.3	-	35	5512	c.5483T>A	c.(5482-5484)cTg>cAg	p.L1828Q	MYH6_ENST00000405093.3_Missense_Mutation_p.L1828Q			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1828					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.L1828Q(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCGGCCTCCAGCTCACCCTC	0.667																																							uc001wjv.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(5482-5484)CTG>CAG		myosin heavy chain 6							93.0	91.0	92.0					14																	23853733		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23853733A>T	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5483T>A	14.37:g.23853733A>T	ENSP00000348634:p.Leu1828Gln						p.L1828Q	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	36	5550	-	all_cancers(95;2.54e-05)		1828			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.5483T>A	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	a	21.7	4.187473	0.78789	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.88741	-2.42;-2.42	4.3	4.3	0.51218	Myosin tail (1);	.	.	.	.	D	0.96084	0.8724	H	0.96691	3.865	0.49798	D	0.999822	D	0.60575	0.988	D	0.71656	0.974	D	0.97338	0.9955	9	0.87932	D	0	.	13.9198	0.63923	1.0:0.0:0.0:0.0	.	1828	P13533	MYH6_HUMAN	Q	1828	ENSP00000386041:L1828Q;ENSP00000348634:L1828Q	ENSP00000348634:L1828Q	L	-	2	0	MYH6	22923573	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.099000	0.94207	1.941000	0.56285	0.459000	0.35465	CTG		0.667	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			45	103	0	0	0	0.002852	0	45	103				
GMPR2	51292	broad.mit.edu	37	14	24707945	24707945	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:24707945C>T	ENST00000355299.4	+	10	1469	c.1008C>T	c.(1006-1008)gtC>gtT	p.V336V	GMPR2_ENST00000348719.7_Silent_p.V397V|GMPR2_ENST00000559910.1_Silent_p.V303V|GMPR2_ENST00000557854.1_Silent_p.V415V|GMPR2_ENST00000559104.1_Silent_p.V321V|GMPR2_ENST00000420554.2_Silent_p.V354V|TINF2_ENST00000558510.1_5'Flank|GMPR2_ENST00000399440.2_Silent_p.V336V|GMPR2_ENST00000456667.3_Silent_p.V308V|GMPR2_ENST00000559836.1_Silent_p.V336V	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	336					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)	p.V336V(1)|p.V354V(1)		large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		TCATCCGAGTCACCCAGCAGG	0.542																																							uc001wnr.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(1006-1008)GTC>GTT		guanosine monophosphate reductase 2 isoform 2							91.0	89.0	90.0					14																	24707945		2020	4182	6202	SO:0001819	synonymous_variant	51292				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding	g.chr14:24707945C>T		CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.1008C>T	14.37:g.24707945C>T						GMPR2_uc001wnv.2_Silent_p.V173V|GMPR2_uc001wns.2_Silent_p.V336V|GMPR2_uc001wnt.2_Silent_p.V303V|GMPR2_uc001wnu.2_Silent_p.V361V|GMPR2_uc001wnw.2_Silent_p.V336V|GMPR2_uc010all.2_Silent_p.V308V|GMPR2_uc001wnx.2_Silent_p.V354V|GMPR2_uc010tod.1_Silent_p.V303V|GMPR2_uc010alk.1_Silent_p.V397V|GMPR2_uc010toe.1_Silent_p.V397V	p.V336V	NM_001002001	NP_001002001	Q9P2T1	GMPR2_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	10	1390	+			336					D3DS66|Q567T0|Q6IAJ8|Q86T14	Silent	SNP	ENST00000355299.4	37	c.1008C>T	CCDS41935.1																																																																																				0.542	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576		9	56	0	0	0	0.004482	0	9	56				
HEATR5A	25938	broad.mit.edu	37	14	31792927	31792927	+	Missense_Mutation	SNP	G	G	A	rs377035891	byFrequency	TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:31792927G>A	ENST00000389961.3	-	23	3612	c.3613C>T	c.(3613-3615)Cgt>Tgt	p.R1205C	HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1205C|HEATR5A_ENST00000543095.2_Missense_Mutation_p.R1211C|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R918C			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1205								p.R1205C(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTTTCATCACGTCTGGTGGTC	0.408													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14653	0.0		0.0	False		,,,				2504	0.0						uc001wrf.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2752-2754)CGT>TGT		HEAT repeat containing 5A		G	CYS/ARG	2,3802		0,2,1900	148.0	135.0	139.0		3631	2.8	0.1	14		139	0,8234		0,0,4117	no	missense	HEATR5A	NM_015473.3	180	0,2,6017	AA,AG,GG		0.0,0.0526,0.0166	benign	1211/2047	31792927	2,12036	1902	4117	6019	SO:0001583	missense	25938						binding	g.chr14:31792927G>A	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.3613C>T	14.37:g.31792927G>A	ENSP00000374611:p.Arg1205Cys					HEATR5A_uc010ami.2_Missense_Mutation_p.R816C|HEATR5A_uc001wrg.1_Missense_Mutation_p.R800C	p.R918C	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	18	2829	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1205					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.2752C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.41|11.41	1.630436|1.630436	0.28978|0.28978	5.26E-4|5.26E-4	0.0|0.0	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095|ENST00000550366	T;T;T;T|.	0.65732|.	-0.17;-0.17;-0.17;-0.17|.	5.13|5.13	2.78|2.78	0.32641|0.32641	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.600532|.	0.18097|.	N|.	0.151809|.	T|T	0.24624|0.24624	0.0597|0.0597	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	P;P|.	0.47841|.	0.901;0.715|.	B;B|.	0.31016|.	0.123;0.123|.	T|T	0.22347|0.22347	-1.0219|-1.0219	10|5	0.72032|.	D|.	0.01|.	.|.	7.1811|7.1811	0.25774|0.25774	0.0:0.0797:0.1542:0.766|0.0:0.0797:0.1542:0.766	.|.	1205;1205|.	Q86XA9-2;Q86XA9|.	.;HTR5A_HUMAN|.	C|M	1205;1205;918;1211|853	ENSP00000374611:R1205C;ENSP00000405407:R1205C;ENSP00000408681:R918C;ENSP00000437968:R1211C|.	ENSP00000374611:R1205C|.	R|T	-|-	1|2	0|0	HEATR5A|HEATR5A	30862678|30862678	0.000000|0.000000	0.05858|0.05858	0.133000|0.133000	0.22050|0.22050	0.272000|0.272000	0.26649|0.26649	0.745000|0.745000	0.26259|0.26259	0.302000|0.302000	0.22762|0.22762	0.305000|0.305000	0.20034|0.20034	CGT|ACG		0.408	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		24	84	0	0	0	0.004656	0	24	84				
RALGAPA1	253959	broad.mit.edu	37	14	36143822	36143822	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:36143822C>G	ENST00000389698.3	-	22	3590	c.3200G>C	c.(3199-3201)aGa>aCa	p.R1067T	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R1080T|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.R1067T|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.R1114T	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1067					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.R1067T(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCCTAGCATTCTTCGCCACAT	0.398																																							uc001wti.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)	4						c.(3199-3201)AGA>ACA		Ral GTPase activating protein, alpha subunit 1							27.0	27.0	27.0					14																	36143822		2202	4280	6482	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36143822C>G	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3200G>C	14.37:g.36143822C>G	ENSP00000374348:p.Arg1067Thr					RALGAPA1_uc010amp.2_5'Flank|RALGAPA1_uc001wtj.2_Missense_Mutation_p.R1067T|RALGAPA1_uc010tpv.1_Missense_Mutation_p.R1080T|RALGAPA1_uc010tpw.1_Missense_Mutation_p.R1114T	p.R1067T	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			22	3591	-			1067					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.3200G>C	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358173	0.82243	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87	5.61	4.72	0.59763	.	0.000000	0.85682	D	0.000000	D	0.84920	0.5579	M	0.72894	2.215	0.47949	D	0.999552	D;D;D;D	0.89917	0.997;1.0;1.0;1.0	D;D;D;D	0.91635	0.993;0.998;0.996;0.999	D	0.86597	0.1864	10	0.72032	D	0.01	-14.8668	14.605	0.68472	0.0:0.9297:0.0:0.0703	.	1114;1080;1067;1067	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	T	1067;1067;1067;1114;1080;1114	ENSP00000374348:R1067T;ENSP00000302647:R1067T;ENSP00000258840:R1114T;ENSP00000371803:R1080T;ENSP00000451877:R1114T	ENSP00000258840:R1114T	R	-	2	0	RALGAPA1	35213573	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.818000	0.86416	1.372000	0.46190	0.591000	0.81541	AGA		0.398	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		8	21	0	0	0	0.004482	0	8	21				
GNG2	54331	broad.mit.edu	37	14	52433384	52433384	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:52433384G>T	ENST00000335281.4	+	3	601	c.195G>T	c.(193-195)aaG>aaT	p.K65N	GNG2_ENST00000555472.1_Missense_Mutation_p.K65N|GNG2_ENST00000557376.1_Missense_Mutation_p.K104N|GNG2_ENST00000554736.1_Missense_Mutation_p.K65N|GNG2_ENST00000553299.1_3'UTR|GNG2_ENST00000556766.1_Missense_Mutation_p.K65N|GNG2_ENST00000556752.1_Missense_Mutation_p.K65N|RP11-463J10.3_ENST00000553603.1_RNA|GNG2_ENST00000553432.1_Missense_Mutation_p.K96N	NM_001243774.1	NP_001230703.1	P59768	GBG2_HUMAN	guanine nucleotide binding protein (G protein), gamma 2	65					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|platelet activation (GO:0030168)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|signal transducer activity (GO:0004871)	p.K65N(1)		lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	GGGAGAAGAAGTTTTTCTGTG	0.512																																							uc001wzi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(193-195)AAG>AAT		guanine nucleotide binding protein (G protein),	Halothane(DB01159)						81.0	88.0	86.0					14																	52433384		2203	4300	6503	SO:0001583	missense	54331				cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity	g.chr14:52433384G>T	AK001024	CCDS32082.1	14q21	2008-07-28				ENSG00000186469			4404	protein-coding gene	gene with protein product		606981				10833460	Standard	NM_053064		Approved		uc001wzj.3	P59768		ENST00000335281.4:c.195G>T	14.37:g.52433384G>T	ENSP00000334448:p.Lys65Asn					GNG2_uc001wzh.2_RNA|GNG2_uc010aoc.1_RNA|GNG2_uc001wzj.2_RNA|GNG2_uc001wzk.2_Missense_Mutation_p.K65N	p.K65N	NM_053064	NP_444292	P59768	GBG2_HUMAN			4	724	+	all_epithelial(31;0.0659)|Breast(41;0.0684)		65					Q5JPE2|Q6P9A9	Missense_Mutation	SNP	ENST00000335281.4	37	c.195G>T	CCDS32082.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309837	0.81247	.	.	ENSG00000186469	ENST00000553432;ENST00000557376;ENST00000335281;ENST00000555472;ENST00000556766;ENST00000554736;ENST00000556752	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.03	5.03	0.67393	G-protein gamma domain (4);	0.000000	0.85682	D	0.000000	T	0.38931	0.1059	.	.	.	0.80722	D	1	P	0.47604	0.898	P	0.44359	0.447	T	0.38200	-0.9672	9	0.72032	D	0.01	-24.0063	19.2197	0.93791	0.0:0.0:1.0:0.0	.	65	P59768	GBG2_HUMAN	N	96;104;65;65;65;65;65	ENSP00000451279:K96N;ENSP00000450758:K104N;ENSP00000334448:K65N;ENSP00000451102:K65N;ENSP00000451231:K65N;ENSP00000452014:K65N;ENSP00000451576:K65N	ENSP00000334448:K65N	K	+	3	2	GNG2	51503134	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.761000	0.68801	2.700000	0.92200	0.591000	0.81541	AAG		0.512	GNG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411585.1			35	122	1	0	1.36161e-19	0.004289	2.0269e-19	35	122				
C14orf37	145407	broad.mit.edu	37	14	58605023	58605024	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:58605023_58605024CC>AA	ENST00000267485.7	-	2	1247_1248	c.1053_1054GG>TT	c.(1051-1056)gaGGgt>gaTTgt	p.351_352EG>DC	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	351						integral component of membrane (GO:0016021)		p.E351_G352>DC(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CCTTCCATACCCTCATGGCTTA	0.554																																							uc001xdc.2		NA																	1	Complex - compound substitution(1)		lung(1)		0						c.(1051-1056)GAGGGT>GATTGT		hypothetical protein LOC145407 precursor																																				SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58605023_58605024CC>AA		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1053_1054delinsAA	14.37:g.58605023_58605024delinsAA	ENSP00000267485:p.E351_G352delinsDC					C14orf37_uc010tro.1_Missense_Mutation_p.389_390EG>DC|C14orf37_uc001xdd.2_Missense_Mutation_p.351_352EG>DC|C14orf37_uc001xde.2_Missense_Mutation_p.351_352EG>DC	p.351_352EG>DC	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			2	1164_1165	-			351_352			Extracellular (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	DNP	ENST00000267485.7	37	c.1053_1054GG>TT	CCDS32089.1																																																																																				0.554	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		29	133	0	0	0	0.004672	0	29	133				
RTN1	6252	broad.mit.edu	37	14	60193817	60193817	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr14:60193817C>T	ENST00000267484.5	-	3	1920	c.1585G>A	c.(1585-1587)Gag>Aag	p.E529K		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	529					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.E529K(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGCTGGGGCTCAGTTGAGGGG	0.692																																							uc001xen.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1585-1587)GAG>AAG		reticulon 1 isoform A							14.0	18.0	17.0					14																	60193817		2200	4298	6498	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60193817C>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1585G>A	14.37:g.60193817C>T	ENSP00000267484:p.Glu529Lys					RTN1_uc001xem.1_Missense_Mutation_p.E109K	p.E529K	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	3	1794	-			529					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.1585G>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	3.772	-0.047515	0.07407	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000433623	T	0.22134	1.97	5.09	0.807	0.18714	.	1.745530	0.02907	N	0.136244	T	0.14399	0.0348	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25606	-1.0127	10	0.02654	T	1	.	11.5972	0.50981	0.123:0.5177:0.3594:0.0	.	529	Q16799	RTN1_HUMAN	K	109;529;455	ENSP00000267484:E529K	ENSP00000267484:E529K	E	-	1	0	RTN1	59263570	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.436000	0.21526	0.515000	0.28320	-0.300000	0.09419	GAG		0.692	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			6	13	0	0	0	0.00308	0	6	13				
TUBGCP5	114791	broad.mit.edu	37	15	22866791	22866791	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:22866791C>A	ENST00000283645.4	+	17	2533	c.2403C>A	c.(2401-2403)ctC>ctA	p.L801L	TUBGCP5_ENST00000453949.2_Silent_p.L801L	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	801					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.L801L(1)		breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		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;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTCTGACCCTCAGCTACAAGG	0.333																																							uc001yur.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2401-2403)CTC>CTA		tubulin, gamma complex associated protein 5							106.0	102.0	103.0					15																	22866791		2203	4300	6503	SO:0001819	synonymous_variant	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22866791C>A	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2403C>A	15.37:g.22866791C>A						TUBGCP5_uc001yuq.2_Silent_p.L801L	p.L801L	NM_052903	NP_443135	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	17	2533	+		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)	801					E9PB12|Q6IQ52|Q96PY8	Silent	SNP	ENST00000283645.4	37	c.2403C>A	CCDS10008.1																																																																																				0.333	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		7	46	1	0	0.000157383	0.00308	0.000180261	7	46				
ATP10A	57194	broad.mit.edu	37	15	25963457	25963457	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:25963457C>T	ENST00000356865.6	-	8	1564	c.1453G>A	c.(1453-1455)Ggc>Agc	p.G485S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	485					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G485S(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGGTGGCTGCCGATGCTGCCG	0.701																																							uc010ayu.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(1453-1455)GGC>AGC		ATPase, class V, type 10A							26.0	25.0	25.0					15																	25963457		2199	4295	6494	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25963457C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1453G>A	15.37:g.25963457C>T	ENSP00000349325:p.Gly485Ser						p.G485S	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	8	1559	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	485			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.1453G>A	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	8.137	0.784329	0.16189	.	.	ENSG00000206190	ENST00000356865	T	0.09911	2.93	5.14	4.22	0.49857	HAD-like domain (1);	0.626128	0.16704	N	0.202988	T	0.07548	0.0190	L	0.39633	1.23	0.34113	D	0.663197	B	0.27416	0.178	B	0.22753	0.041	T	0.15867	-1.0422	10	0.09084	T	0.74	-25.0173	6.566	0.22513	0.1561:0.6857:0.0:0.1582	.	485	O60312	AT10A_HUMAN	S	485	ENSP00000349325:G485S	ENSP00000349325:G485S	G	-	1	0	ATP10A	23514550	0.598000	0.26882	0.688000	0.30117	0.729000	0.41735	1.169000	0.31871	1.154000	0.42482	0.655000	0.94253	GGC		0.701	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		4	19	0	0	0	0.009096	0	4	19				
OTUD7A	161725	broad.mit.edu	37	15	31819497	31819497	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:31819497G>C	ENST00000307050.4	-	5	759	c.667C>G	c.(667-669)Cac>Gac	p.H223D	OTUD7A_ENST00000382902.1_Missense_Mutation_p.H223D	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	223	Catalytic. {ECO:0000250}.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.H223D(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TCCCGGTCGTGAAACCCCCAC	0.572																																							uc001zfq.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(667-669)CAC>GAC		OTU domain containing 7A							111.0	107.0	108.0					15																	31819497		2202	4300	6502	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31819497G>C	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.667C>G	15.37:g.31819497G>C	ENSP00000305926:p.His223Asp					OTUD7A_uc001zfr.2_Missense_Mutation_p.H223D	p.H223D	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	5	760	-		all_lung(180;1.6e-09)	223			OTU.|Catalytic (By similarity).|TRAF-binding (By similarity).		Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.667C>G	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529014	0.85706	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.31769	1.48;1.48	5.6	5.6	0.85130	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	M	0.77486	2.375	0.58432	D	0.999998	D;D	0.69078	0.996;0.997	D;D	0.80764	0.99;0.994	T	0.63247	-0.6680	10	0.87932	D	0	-22.102	19.6033	0.95572	0.0:0.0:1.0:0.0	.	223;223	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	D	223	ENSP00000305926:H223D;ENSP00000372358:H223D	ENSP00000305926:H223D	H	-	1	0	OTUD7A	29606789	1.000000	0.71417	0.825000	0.32803	0.931000	0.56810	8.754000	0.91642	2.624000	0.88883	0.563000	0.77884	CAC		0.572	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		24	93	0	0	0	0.003954	0	24	93				
OTUD7A	161725	broad.mit.edu	37	15	31851205	31851205	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:31851205C>T	ENST00000307050.4	-	3	609	c.517G>A	c.(517-519)Gag>Aag	p.E173K	OTUD7A_ENST00000382902.1_Missense_Mutation_p.E173K	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	173	TRAF-binding. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.E173Q(1)|p.E173K(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GTTGCCTGCTCGATCAAGTCC	0.572																																							uc001zfq.2		NA																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	pancreas(1)|skin(1)	2						c.(517-519)GAG>AAG		OTU domain containing 7A							91.0	70.0	77.0					15																	31851205		2201	4300	6501	SO:0001583	missense	161725					cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	g.chr15:31851205C>T	AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.517G>A	15.37:g.31851205C>T	ENSP00000305926:p.Glu173Lys					OTUD7A_uc001zfr.2_Missense_Mutation_p.E173K|OTUD7A_uc001zfs.1_RNA|OTUD7A_uc010baa.1_Missense_Mutation_p.E173K	p.E173K	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)	3	610	-		all_lung(180;1.6e-09)	173			TRAF-binding (By similarity).		Q8IWK5	Missense_Mutation	SNP	ENST00000307050.4	37	c.517G>A	CCDS10026.1	.	.	.	.	.	.	.	.	.	.	C	35	5.542996	0.96474	.	.	ENSG00000169918	ENST00000307050;ENST00000382902	T;T	0.46451	0.9;0.87	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	M	0.76838	2.35	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.981	T	0.70666	-0.4809	10	0.72032	D	0.01	-35.9613	19.6626	0.95878	0.0:1.0:0.0:0.0	.	173;173	Q8TE49-2;Q8TE49	.;OTU7A_HUMAN	K	173	ENSP00000305926:E173K;ENSP00000372358:E173K	ENSP00000305926:E173K	E	-	1	0	OTUD7A	29638497	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.047000	0.76599	2.626000	0.88956	0.462000	0.41574	GAG		0.572	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901		6	26	0	0	0	0.001984	0	6	26				
SH3GL3	6457	broad.mit.edu	37	15	84255823	84255823	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:84255823G>A	ENST00000427482.2	+	7	1019	c.713G>A	c.(712-714)aGc>aAc	p.S238N	SH3GL3_ENST00000434347.1_Missense_Mutation_p.S246N|SH3GL3_ENST00000324537.5_Missense_Mutation_p.S246N|SH3GL3_ENST00000535412.1_Missense_Mutation_p.S238N	NM_003027.3	NP_003018.3	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	238	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Interaction with ARC. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.S246N(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GAGCTGCAGAGCAAGCTACAG	0.498																																							uc002bjw.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(712-714)AGC>AAC		SH3-domain GRB2-like 3							69.0	59.0	63.0					15																	84255823		2203	4300	6503	SO:0001583	missense	6457				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	g.chr15:84255823G>A	AF036271	CCDS10325.2, CCDS73772.1	15q24	2006-11-24			ENSG00000140600	ENSG00000140600			10832	protein-coding gene	gene with protein product		603362				9169142	Standard	NR_026799		Approved	SH3D2C, SH3P13, CNSA3, EEN-B2, HsT19371	uc002bjw.3	Q99963	OTTHUMG00000147361	ENST00000427482.2:c.713G>A	15.37:g.84255823G>A	ENSP00000391372:p.Ser238Asn					SH3GL3_uc010uot.1_Missense_Mutation_p.S238N|SH3GL3_uc002bjx.2_Missense_Mutation_p.S169N|SH3GL3_uc002bju.2_Missense_Mutation_p.S246N|SH3GL3_uc002bjv.2_RNA	p.S238N	NM_003027	NP_003018	Q99963	SH3G3_HUMAN			7	908	+			238			BAR.|Interaction with ARC (By similarity).		O43553|O43554	Missense_Mutation	SNP	ENST00000427482.2	37	c.713G>A	CCDS10325.2	.	.	.	.	.	.	.	.	.	.	G	8.146	0.786323	0.16189	.	.	ENSG00000140600	ENST00000427482;ENST00000535412;ENST00000324537;ENST00000434347	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.9	-3.14	0.05250	BAR (3);	0.691429	0.15865	N	0.240843	T	0.18676	0.0448	L	0.39898	1.24	0.18873	N	0.999985	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.25293	-1.0136	10	0.19590	T	0.45	-5.3308	7.9684	0.30113	0.5256:0.1106:0.3638:0.0	.	238;238;246	Q8IVP1;Q99963;Q99963-3	.;SH3G3_HUMAN;.	N	238;238;246;246	ENSP00000391372:S238N;ENSP00000439239:S238N;ENSP00000320092:S246N;ENSP00000397871:S246N	ENSP00000320092:S246N	S	+	2	0	SH3GL3	82046827	0.149000	0.22717	0.014000	0.15608	0.675000	0.39556	0.143000	0.16115	-0.985000	0.03503	-0.253000	0.11424	AGC		0.498	SH3GL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347797.1	NM_003027		11	17	0	0	0	0.008291	0	11	17				
NTRK3	4916	broad.mit.edu	37	15	88483966	88483966	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:88483966C>A	ENST00000360948.2	-	14	1765	c.1604G>T	c.(1603-1605)aGg>aTg	p.R535M	NTRK3_ENST00000558676.1_Missense_Mutation_p.R527M|NTRK3_ENST00000357724.2_Missense_Mutation_p.R527M|NTRK3_ENST00000355254.2_Missense_Mutation_p.R535M|NTRK3_ENST00000542733.2_Missense_Mutation_p.R437M|NTRK3_ENST00000557856.1_Missense_Mutation_p.R527M|NTRK3_ENST00000394480.2_Missense_Mutation_p.R535M	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	535					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R535M(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GATGTCTCTCCTCTTAATGTG	0.532			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																													uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	2	Substitution - Missense(2)		lung(2)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(1603-1605)AGG>ATG		neurotrophic tyrosine kinase, receptor, type 3							187.0	155.0	166.0					15																	88483966		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88483966C>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1604G>T	15.37:g.88483966C>A	ENSP00000354207:p.Arg535Met	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.R527M|NTRK3_uc002bmf.1_Missense_Mutation_p.R535M|NTRK3_uc010upl.1_Missense_Mutation_p.R437M|NTRK3_uc010bnh.1_Missense_Mutation_p.R527M	p.R535M	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		14	1766	-			535			Cytoplasmic (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.1604G>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286177	0.80803	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000343782	D;D;D;D;D	0.89415	-2.51;-2.51;-2.51;-2.51;-2.51	5.29	5.29	0.74685	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93423	0.7902	M	0.62088	1.915	0.80722	D	1	P;D;D;D;D	0.76494	0.868;0.974;0.999;0.97;0.998	B;P;D;P;D	0.73380	0.406;0.694;0.98;0.79;0.963	D	0.93483	0.6829	10	0.54805	T	0.06	.	17.9041	0.88913	0.0:1.0:0.0:0.0	.	437;527;527;535;535	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	M	535;535;527;535;437;31	ENSP00000377990:R535M;ENSP00000354207:R535M;ENSP00000350356:R527M;ENSP00000347397:R535M;ENSP00000437773:R437M	ENSP00000342792:R31M	R	-	2	0	NTRK3	86284970	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.826000	0.69293	2.477000	0.83638	0.655000	0.94253	AGG		0.532	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				38	158	1	0	1.47244e-24	0.00623	2.23557e-24	38	158				
SLCO3A1	28232	broad.mit.edu	37	15	92706072	92706072	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:92706072T>C	ENST00000318445.6	+	10	2054	c.1840T>C	c.(1840-1842)Tgc>Cgc	p.C614R	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.C614R|RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR|RP11-24J19.1_ENST00000557683.1_RNA	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	614					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.C614R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GCAAGGCGCCTGCGTCCTCTA	0.582																																							uc002bqx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1840-1842)TGC>CGC		solute carrier organic anion transporter family,							107.0	77.0	87.0					15																	92706072		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92706072T>C	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1840T>C	15.37:g.92706072T>C	ENSP00000320634:p.Cys614Arg					SLCO3A1_uc002bqy.2_Missense_Mutation_p.C614R|SLCO3A1_uc002bqz.1_Missense_Mutation_p.C556R	p.C614R	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		10	2041	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		614			Extracellular (Potential).		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.1840T>C	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.001748	0.74932	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.78364	-1.17;-1.17	5.44	5.44	0.79542	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.91529	0.7325	H	0.95079	3.62	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	0.93997	0.7272	10	0.87932	D	0	.	15.5026	0.75713	0.0:0.0:0.0:1.0	.	556;614;614	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	R	614;614;333	ENSP00000320634:C614R;ENSP00000387846:C614R	ENSP00000320634:C614R	C	+	1	0	SLCO3A1	90507076	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.475000	0.81041	2.053000	0.61076	0.533000	0.62120	TGC		0.582	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		3	80	0	0	0	0.004672	0	3	80				
NR2F2	7026	broad.mit.edu	37	15	96877535	96877535	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr15:96877535G>T	ENST00000394166.3	+	2	2062	c.673G>T	c.(673-675)Gag>Tag	p.E225*	NR2F2_ENST00000453270.2_Nonsense_Mutation_p.E72*|NR2F2_ENST00000394171.2_Nonsense_Mutation_p.E72*|MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000421109.2_Nonsense_Mutation_p.E92*	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	225	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E225*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CAGCGCCGTCGAGTGGGCCCG	0.612																																							uc010uri.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(1)	3						c.(673-675)GAG>TAG		nuclear receptor subfamily 2, group F, member 2							146.0	136.0	139.0					15																	96877535		2197	4298	6495	SO:0001587	stop_gained	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96877535G>T	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.673G>T	15.37:g.96877535G>T	ENSP00000377721:p.Glu225*					NR2F2_uc002btp.2_Nonsense_Mutation_p.E92*|NR2F2_uc010urj.1_Nonsense_Mutation_p.E72*|NR2F2_uc010urk.1_Nonsense_Mutation_p.E72*	p.E225*	NM_021005	NP_066285	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		2	1897	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		225			Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Nonsense_Mutation	SNP	ENST00000394166.3	37	c.673G>T	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	G	43	10.504324	0.99417	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	.	.	.	4.96	4.96	0.65561	.	0.053363	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.1811	0.89779	0.0:0.0:1.0:0.0	.	.	.	.	X	92;225;72;72	.	ENSP00000377721:E225X	E	+	1	0	NR2F2	94678539	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.012000	0.88631	2.306000	0.77630	0.561000	0.74099	GAG		0.612	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			68	98	1	0	6.26901e-30	0.00361	9.71165e-30	68	98				
SRRM2	23524	broad.mit.edu	37	16	2815417	2815417	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:2815417C>T	ENST00000301740.8	+	11	5437	c.4888C>T	c.(4888-4890)Cgg>Tgg	p.R1630W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1630	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)	p.R1630W(1)		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						TCCAGCCCCTCGGGCCCTTCC	0.562																																							uc002crk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(4888-4890)CGG>TGG		splicing coactivator subunit SRm300							64.0	66.0	65.0					16																	2815417		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.chr16:2815417C>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.4888C>T	16.37:g.2815417C>T	ENSP00000301740:p.Arg1630Trp					SRRM2_uc002crj.1_Missense_Mutation_p.R1534W|SRRM2_uc002crl.1_Missense_Mutation_p.R1630W|SRRM2_uc010bsu.1_Missense_Mutation_p.R1534W	p.R1630W	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	5437	+			1630			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.4888C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	0.157	-1.084918	0.01888	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.39056	1.1	5.25	0.714	0.18180	.	0.000000	0.50627	D	0.000102	T	0.57519	0.2059	L	0.58101	1.795	0.27512	N	0.951675	D	0.89917	1.0	D	0.87578	0.998	T	0.57010	-0.7884	10	0.72032	D	0.01	-6.0977	13.5588	0.61777	0.6835:0.3165:0.0:0.0	.	1630	Q9UQ35	SRRM2_HUMAN	W	1630;1630;882	ENSP00000301740:R1630W	ENSP00000301740:R1630W	R	+	1	2	SRRM2	2755418	0.000000	0.05858	0.125000	0.21846	0.377000	0.30045	0.180000	0.16860	-0.080000	0.12685	-0.309000	0.09137	CGG		0.562	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			22	61	0	0	0	0.001882	0	22	61				
RBFOX1	54715	broad.mit.edu	37	16	7568296	7568296	+	Missense_Mutation	SNP	C	C	A	rs137880529	byFrequency	TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:7568296C>A	ENST00000550418.1	+	5	1163	c.175C>A	c.(175-177)Ccc>Acc	p.P59T	RBFOX1_ENST00000436368.2_Missense_Mutation_p.P79T|RBFOX1_ENST00000355637.4_Missense_Mutation_p.P79T|RBFOX1_ENST00000535565.2_Missense_Mutation_p.P95T|RBFOX1_ENST00000340209.4_Missense_Mutation_p.P64T|RBFOX1_ENST00000552089.1_Missense_Mutation_p.P95T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.P59T|RBFOX1_ENST00000422070.4_Missense_Mutation_p.P102T|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P79T|RBFOX1_ENST00000547372.1_Missense_Mutation_p.P102T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.P59T	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	59					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.P79S(2)|p.P79T(2)|p.P59T(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GACCACGGTTCCCGAGCACAC	0.662																																					Ovarian(157;934 2567 15163 39509)		uc002cys.2		NA																	5	Substitution - Missense(5)		lung(3)|skin(2)		0						c.(175-177)CCC>ACC		ataxin 2-binding protein 1 isoform 4							127.0	121.0	123.0					16																	7568296		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7568296C>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.175C>A	16.37:g.7568296C>A	ENSP00000450031:p.Pro59Thr					A2BP1_uc010buf.1_Missense_Mutation_p.P59T|A2BP1_uc002cyr.1_Missense_Mutation_p.P59T|A2BP1_uc002cyt.2_Missense_Mutation_p.P59T|A2BP1_uc010uxz.1_Missense_Mutation_p.P102T|A2BP1_uc010uya.1_Missense_Mutation_p.P95T|A2BP1_uc002cyv.1_Missense_Mutation_p.P59T|A2BP1_uc010uyb.1_Missense_Mutation_p.P59T|A2BP1_uc002cyw.2_Missense_Mutation_p.P79T|A2BP1_uc002cyy.2_Missense_Mutation_p.P79T|A2BP1_uc002cyx.2_Missense_Mutation_p.P79T|A2BP1_uc010uyc.1_Missense_Mutation_p.P79T	p.P59T	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	5	1163	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	59					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.175C>A	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807672	0.50421	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.36340	1.7;1.26;1.56;1.55;1.52;1.62;1.26;1.41;1.57;1.53;1.26	4.85	4.85	0.62838	.	0.226271	0.37715	N	0.001965	T	0.34048	0.0884	L	0.44542	1.39	0.41988	D	0.990833	B;P;B;P;B;P;B;B;B	0.46859	0.169;0.885;0.036;0.716;0.006;0.708;0.002;0.021;0.094	B;B;B;B;B;B;B;B;B	0.43082	0.086;0.31;0.02;0.407;0.036;0.251;0.008;0.027;0.108	T	0.19160	-1.0314	10	0.54805	T	0.06	-7.2869	13.026	0.58814	0.1612:0.8388:0.0:0.0	.	79;95;102;79;79;79;59;59;102	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	T	59;59;59;102;102;95;95;59;59;79;79;79;79;64	ENSP00000450402:P59T;ENSP00000450031:P59T;ENSP00000447753:P59T;ENSP00000446842:P102T;ENSP00000391269:P102T;ENSP00000447281:P59T;ENSP00000447717:P59T;ENSP00000402745:P79T;ENSP00000309117:P79T;ENSP00000347855:P79T;ENSP00000344196:P64T	ENSP00000309117:P79T	P	+	1	0	RBFOX1	7508297	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.207000	0.51106	2.222000	0.72286	0.557000	0.71058	CCC		0.662	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		38	144	1	0	2.52637e-11	0.005524	3.42597e-11	38	144				
RBFOX1	54715	broad.mit.edu	37	16	7629920	7629920	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:7629920G>T	ENST00000550418.1	+	6	1400	c.412G>T	c.(412-414)Ggt>Tgt	p.G138C	RBFOX1_ENST00000436368.2_Missense_Mutation_p.G158C|RBFOX1_ENST00000355637.4_Missense_Mutation_p.G158C|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000340209.4_Missense_Mutation_p.G143C|RBFOX1_ENST00000552089.1_Missense_Mutation_p.G173C|RBFOX1_ENST00000553186.1_Missense_Mutation_p.G138C|RBFOX1_ENST00000422070.4_Missense_Mutation_p.G181C|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G158C|RBFOX1_ENST00000547372.1_Missense_Mutation_p.G181C|RBFOX1_ENST00000547338.1_Missense_Mutation_p.G138C	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	138	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.G158C(2)|p.G138C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						ACAAATGTTTGGTGTAAGTAT	0.493																																					Ovarian(157;934 2567 15163 39509)		uc002cys.2		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(412-414)GGT>TGT		ataxin 2-binding protein 1 isoform 4							71.0	67.0	68.0					16																	7629920		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7629920G>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.412G>T	16.37:g.7629920G>T	ENSP00000450031:p.Gly138Cys					A2BP1_uc010buf.1_Missense_Mutation_p.G138C|A2BP1_uc002cyr.1_Missense_Mutation_p.G137C|A2BP1_uc002cyt.2_Missense_Mutation_p.G138C|A2BP1_uc010uxz.1_Missense_Mutation_p.G181C|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Missense_Mutation_p.G138C|A2BP1_uc010uyb.1_Missense_Mutation_p.G138C|A2BP1_uc002cyw.2_Missense_Mutation_p.G158C|A2BP1_uc002cyy.2_Missense_Mutation_p.G158C|A2BP1_uc002cyx.2_Missense_Mutation_p.G158C|A2BP1_uc010uyc.1_Missense_Mutation_p.G158C	p.G138C	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	6	1400	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	138			RRM.		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.412G>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	G	34	5.299786	0.95574	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.35;2.23;2.23;2.23;2.23;2.23;2.23	5.39	5.39	0.77823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.39489	0.1080	L	0.52573	1.65	0.80722	D	1	P;P;D;D;D;P;D;D	0.89917	0.723;0.766;1.0;0.995;1.0;0.843;0.985;1.0	P;P;D;D;D;P;D;D	0.97110	0.686;0.727;1.0;0.975;0.999;0.655;0.946;0.997	T	0.12344	-1.0551	10	0.87932	D	0	-8.66	19.1841	0.93635	0.0:0.0:1.0:0.0	.	158;181;158;158;158;138;138;181	F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;RFOX1_HUMAN;.	C	137;138;138;181;181;173;138;138;158;158;158;158;143	ENSP00000450402:G137C;ENSP00000450031:G138C;ENSP00000447753:G138C;ENSP00000446842:G181C;ENSP00000391269:G181C;ENSP00000448496:G173C;ENSP00000447281:G138C;ENSP00000447717:G138C;ENSP00000402745:G158C;ENSP00000309117:G158C;ENSP00000347855:G158C;ENSP00000344196:G143C	ENSP00000309117:G158C	G	+	1	0	RBFOX1	7569921	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.441000	0.97557	2.537000	0.85549	0.655000	0.94253	GGT		0.493	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		12	36	1	0	4.3838e-07	0.001855	5.42926e-07	12	36				
GRIN2A	2903	broad.mit.edu	37	16	9858390	9858390	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:9858390G>T	ENST00000396573.2	-	14	3320	c.3011C>A	c.(3010-3012)tCc>tAc	p.S1004Y	GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1004Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S847Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1004Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1004Y|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1004Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1004					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.S1004Y(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTCGCTTTGGATTCTGTGCT	0.507																																							uc002czo.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3010-3012)TCC>TAC		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						96.0	93.0	94.0					16																	9858390		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858390G>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3011C>A	16.37:g.9858390G>T	ENSP00000379818:p.Ser1004Tyr					GRIN2A_uc010uym.1_Missense_Mutation_p.S1004Y|GRIN2A_uc010uyn.1_Missense_Mutation_p.S847Y|GRIN2A_uc002czr.3_Missense_Mutation_p.S1004Y	p.S1004Y	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	3559	-			1004			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3011C>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809425	0.50421	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	5.33	5.33	0.75918	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.361177	0.32503	N	0.006013	T	0.22322	0.0538	L	0.47716	1.5	0.35084	D	0.763685	P;P;P	0.52577	0.867;0.954;0.82	P;P;P	0.52109	0.568;0.69;0.601	T	0.10382	-1.0632	9	.	.	.	.	15.2235	0.73333	0.0:0.1407:0.8593:0.0	.	847;1004;1004	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	Y	1004;1004;847;1004;1004	ENSP00000379818:S1004Y;ENSP00000385872:S1004Y;ENSP00000441572:S847Y;ENSP00000332549:S1004Y;ENSP00000379820:S1004Y	.	S	-	2	0	GRIN2A	9765891	1.000000	0.71417	0.988000	0.46212	0.870000	0.49936	5.860000	0.69546	2.491000	0.84063	0.655000	0.94253	TCC		0.507	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			21	84	1	0	2.89027e-11	0.002299	3.90785e-11	21	84				
MKL2	57496	broad.mit.edu	37	16	14340374	14340374	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:14340374G>T	ENST00000341243.5	+	10	1224	c.1224G>T	c.(1222-1224)gtG>gtT	p.V408V	MKL2_ENST00000571589.1_Silent_p.V419V|MKL2_ENST00000318282.5_Silent_p.V419V|MKL2_ENST00000574045.1_Silent_p.V419V			Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	408	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				blood vessel morphogenesis (GO:0048514)|cardiac muscle tissue development (GO:0048738)|embryonic organ development (GO:0048568)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|muscle organ development (GO:0007517)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.V419V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTCTGCCAGTGTCAGGCACCA	0.498																																							uc010uza.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|kidney(1)|pancreas(1)	5						c.(1255-1257)GTG>GTT		megakaryoblastic leukemia 2 protein							64.0	57.0	59.0					16																	14340374		2197	4300	6497	SO:0001819	synonymous_variant	57496				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	g.chr16:14340374G>T	AB033069	CCDS32391.1	16p13.12	2012-11-29			ENSG00000186260	ENSG00000186260			29819	protein-coding gene	gene with protein product		609463				10574462	Standard	NM_014048		Approved	MRTF-B, FLJ31823	uc002dcg.3	Q9ULH7	OTTHUMG00000177379	ENST00000341243.5:c.1224G>T	16.37:g.14340374G>T						MKL2_uc002dcg.2_Silent_p.V419V|MKL2_uc002dcj.2_5'Flank	p.V419V	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN			12	1412	+			408			SAP.		A6ND53|B4DGT8|Q68CT1|Q6UB16|Q86WW2|Q8N226	Silent	SNP	ENST00000341243.5	37	c.1257G>T																																																																																					0.498	MKL2-202	KNOWN	basic	protein_coding	protein_coding		NM_014048		9	51	1	0	7.48243e-07	0.006214	9.16748e-07	9	51				
NOMO1	23420	broad.mit.edu	37	16	14951444	14951444	+	Silent	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:14951444C>G	ENST00000287667.7	+	11	1323	c.1152C>G	c.(1150-1152)ctC>ctG	p.L384L	NOMO1_ENST00000566883.1_3'UTR	NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	384						integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.L384L(1)		endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						AAGAGCACCTCTACTTTGAAA	0.448																																							uc002dcv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1150-1152)CTC>CTG		nodal modulator 1 precursor							92.0	84.0	87.0					16																	14951444		2195	4296	6491	SO:0001819	synonymous_variant	23420					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	g.chr16:14951444C>G	X57398	CCDS10556.1	16p13.11	2008-02-05			ENSG00000103512	ENSG00000103512			30060	protein-coding gene	gene with protein product		609157				1310294, 15257293	Standard	NM_014287		Approved	PM5	uc002dcv.3	Q15155	OTTHUMG00000090541	ENST00000287667.7:c.1152C>G	16.37:g.14951444C>G							p.L384L	NM_014287	NP_055102	Q15155	NOMO1_HUMAN			11	1218	+			384			Extracellular (Potential).		P78421|Q8IW21|Q96DG0	Silent	SNP	ENST00000287667.7	37	c.1152C>G	CCDS10556.1																																																																																				0.448	NOMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207065.1			18	113	0	0	0	0.004656	0	18	113				
ACSM1	116285	broad.mit.edu	37	16	20702413	20702413	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:20702413G>C	ENST00000307493.4	-	1	165	c.98C>G	c.(97-99)tCa>tGa	p.S33*	ACSM1_ENST00000219151.4_De_novo_Start_OutOfFrame|ACSM1_ENST00000520010.1_Nonsense_Mutation_p.S33*	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	33					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.S33*(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCCAAATTCTGATAAAGACCG	0.498																																							uc002dhm.1		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(97-99)TCA>TGA		acyl-CoA synthetase medium-chain family member							136.0	144.0	141.0					16																	20702413		2201	4300	6501	SO:0001587	stop_gained	116285				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20702413G>C	AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.98C>G	16.37:g.20702413G>C	ENSP00000301956:p.Ser33*					ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Nonsense_Mutation_p.S33*	p.S33*	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN			1	166	-			33					Q08AH2|Q96A20	Nonsense_Mutation	SNP	ENST00000307493.4	37	c.98C>G	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	g	17.78	3.473097	0.63737	.	.	ENSG00000166743	ENST00000307493;ENST00000520010;ENST00000523065	.	.	.	4.69	3.72	0.42706	.	2.814340	0.01409	N	0.013925	.	.	.	.	.	.	0.53688	D	0.999977	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	12.2492	0.54589	0.0:0.0:0.8295:0.1705	.	.	.	.	X	33	.	ENSP00000301956:S33X	S	-	2	0	ACSM1	20609914	0.794000	0.28838	0.017000	0.16124	0.020000	0.10135	3.182000	0.50910	1.166000	0.42689	0.502000	0.49764	TCA		0.498	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		5	223	0	0	0	0.000602	0	5	223				
ZKSCAN2	342357	broad.mit.edu	37	16	25255245	25255245	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:25255245C>A	ENST00000328086.7	-	6	2645	c.1842G>T	c.(1840-1842)caG>caT	p.Q614H		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	614					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Q614H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CTGTAGGTTCCTGGGGTTCAA	0.537																																							uc002dod.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1840-1842)CAG>CAT		zinc finger with KRAB and SCAN domains 2							145.0	132.0	136.0					16																	25255245		2197	4300	6497	SO:0001583	missense	342357				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:25255245C>A	AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1842G>T	16.37:g.25255245C>A	ENSP00000331626:p.Gln614His					ZKSCAN2_uc010vcl.1_Missense_Mutation_p.Q410H	p.Q614H	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN		GBM - Glioblastoma multiforme(48;0.0378)	6	2249	-			614					A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	c.1842G>T	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641004	0.47153	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.08458	3.09	5.69	0.327	0.15913	.	0.633028	0.15017	N	0.285206	T	0.12008	0.0292	M	0.64997	1.995	0.28333	N	0.921682	P;P	0.42039	0.567;0.769	B;P	0.44477	0.332;0.451	T	0.08186	-1.0734	10	0.87932	D	0	-6.4605	8.5178	0.33257	0.0:0.574:0.0:0.426	.	410;614	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	H	614	ENSP00000331626:Q614H	ENSP00000331626:Q614H	Q	-	3	2	ZKSCAN2	25162746	0.744000	0.28250	0.554000	0.28268	0.935000	0.57460	-0.016000	0.12613	0.134000	0.18681	0.655000	0.94253	CAG		0.537	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981		31	163	1	0	1.22384e-17	0.002836	1.79261e-17	31	163				
XPO6	23214	broad.mit.edu	37	16	28167672	28167672	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:28167672T>C	ENST00000304658.5	-	7	1320	c.820A>G	c.(820-822)Atc>Gtc	p.I274V	XPO6_ENST00000565698.1_Missense_Mutation_p.I260V|XPO6_ENST00000561488.1_5'Flank	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	274					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)	p.I274V(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AAGTGGAAGATGGTGGTAAGG	0.567																																							uc002dpa.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(820-822)ATC>GTC		exportin 6							93.0	99.0	97.0					16																	28167672		2033	4191	6224	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28167672T>C	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.820A>G	16.37:g.28167672T>C	ENSP00000302790:p.Ile274Val					XPO6_uc002dpb.1_Missense_Mutation_p.I260V|XPO6_uc010vcp.1_Missense_Mutation_p.I274V	p.I274V	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN			7	1321	-			274					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.820A>G	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.921775	0.52653	.	.	ENSG00000169180	ENST00000304658	T	0.47528	0.84	5.87	5.87	0.94306	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	L	0.43152	1.355	0.80722	D	1	P;B	0.37612	0.602;0.333	B;B	0.42916	0.402;0.306	T	0.42582	-0.9443	10	0.41790	T	0.15	-20.6372	14.5226	0.67863	0.0:0.0:0.0:1.0	.	274;274	B7ZM10;Q96QU8	.;XPO6_HUMAN	V	274	ENSP00000302790:I274V	ENSP00000302790:I274V	I	-	1	0	XPO6	28075173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.371000	0.80710	0.533000	0.62120	ATC		0.567	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		17	68	0	0	0	0.006122	0	17	68				
SULT1A1	6817	broad.mit.edu	37	16	28620117	28620117	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:28620117G>A	ENST00000395607.1	-	2	333	c.60C>T	c.(58-60)ctC>ctT	p.L20L	SULT1A1_ENST00000569554.1_Silent_p.L20L|SULT1A1_ENST00000395609.1_Silent_p.L20L|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000314752.7_Silent_p.L20L	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	20					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)	p.L20L(1)		endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	AGTACTTGATGAGCGGGACCC	0.637																																							uc002dqi.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(58-60)CTC>CTT		sulfotransferase family, cytosolic, 1A,							37.0	36.0	36.0					16																	28620117		2197	4293	6490	SO:0001819	synonymous_variant	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28620117G>A	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.60C>T	16.37:g.28620117G>A						uc010vct.1_Intron|SULT1A1_uc002dqj.2_Silent_p.L20L|SULT1A1_uc002dqk.2_Silent_p.L20L|SULT1A1_uc002dql.2_Silent_p.L20L|SULT1A1_uc002dqm.2_Intron|SULT1A1_uc002dqn.2_Silent_p.L111L|SULT1A1_uc002dqo.2_Silent_p.L20L|SULT1A1_uc002dqp.2_Silent_p.L20L	p.L20L	NM_177534	NP_803878	P50225	ST1A1_HUMAN			1	533	-			20					Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Silent	SNP	ENST00000395607.1	37	c.60C>T	CCDS32420.1																																																																																				0.637	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		8	93	0	0	0	0.000978	0	8	93				
SPNS1	83985	broad.mit.edu	37	16	28995569	28995569	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:28995569G>T	ENST00000311008.11	+	12	1913	c.1536G>T	c.(1534-1536)gtG>gtT	p.V512V	LAT_ENST00000360872.5_5'Flank|SPNS1_ENST00000323081.8_Silent_p.V439V|LAT_ENST00000454369.2_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Silent_p.V557V|LAT_ENST00000354453.4_5'Flank|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000564277.1_5'Flank|LAT_ENST00000395461.3_5'Flank|SPNS1_ENST00000352260.7_Silent_p.V438V|SPNS1_ENST00000334536.8_Silent_p.V460V|LAT_ENST00000566177.1_5'Flank	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	512					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)		p.V512V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GGATTGTGGTGCCCCAGCGGG	0.672																																							uc010vdi.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1534-1536)GTG>GTT		spinster homolog 1 isoform 1							33.0	36.0	35.0					16																	28995569		2197	4300	6497	SO:0001819	synonymous_variant	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28995569G>T	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.1536G>T	16.37:g.28995569G>T						uc010vct.1_Intron|SPNS1_uc002drx.2_Silent_p.V439V|SPNS1_uc002dsa.2_Silent_p.V512V|SPNS1_uc002drz.2_Silent_p.V460V|SPNS1_uc010byp.2_Silent_p.V438V|SPNS1_uc010byq.1_Missense_Mutation_p.C387F|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	p.V512V	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN			13	1676	+			512					B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Silent	SNP	ENST00000311008.11	37	c.1536G>T	CCDS10646.1																																																																																				0.672	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		4	47	1	0	2.7689e-08	0.001984	3.59485e-08	4	47				
ZNF646	9726	broad.mit.edu	37	16	31088711	31088711	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:31088711G>A	ENST00000394979.2	+	1	1489	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	ZNF646_ENST00000300850.5_Missense_Mutation_p.E356K			O15015	ZN646_HUMAN	zinc finger protein 646	356					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E356K(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGGCTCTGCGGAGCTCAGCAC	0.632																																							uc002eap.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1066-1068)GAG>AAG		zinc finger protein 646							32.0	29.0	30.0					16																	31088711		2197	4300	6497	SO:0001583	missense	9726				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:31088711G>A	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.1066G>A	16.37:g.31088711G>A	ENSP00000378429:p.Glu356Lys						p.E356K	NM_014699	NP_055514	O15015	ZN646_HUMAN			2	1355	+			356					Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37	c.1066G>A		.	.	.	.	.	.	.	.	.	.	G	12.91	2.078829	0.36662	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08193	3.13;3.12	5.31	5.31	0.75309	.	.	.	.	.	T	0.07279	0.0184	L	0.29908	0.895	0.37788	D	0.92726	B	0.32507	0.373	B	0.30572	0.117	T	0.35051	-0.9804	9	0.37606	T	0.19	-12.882	11.9466	0.52932	0.0845:0.0:0.9155:0.0	.	356	O15015-2	.	K	356	ENSP00000300850:E356K;ENSP00000378429:E356K	ENSP00000300850:E356K	E	+	1	0	ZNF646	30996212	0.995000	0.38212	0.508000	0.27688	0.013000	0.08279	1.280000	0.33202	2.488000	0.83962	0.563000	0.77884	GAG		0.632	ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699		3	20	0	0	0	0.004672	0	3	20				
ABCC11	85320	broad.mit.edu	37	16	48256677	48256677	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:48256677C>T	ENST00000394747.1	-	5	958	c.609G>A	c.(607-609)gtG>gtA	p.V203V	ABCC11_ENST00000356608.2_Silent_p.V203V|ABCC11_ENST00000537808.1_Silent_p.V203V|ABCC11_ENST00000394748.1_Silent_p.V203V|ABCC11_ENST00000353782.5_Silent_p.V203V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	203	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.V203V(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	AGCAGAGTCCCACTCCATGGA	0.458																																							uc002eff.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(607-609)GTG>GTA		ATP-binding cassette, sub-family C, member 11							101.0	96.0	98.0					16																	48256677		2200	4300	6500	SO:0001819	synonymous_variant	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48256677C>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.609G>A	16.37:g.48256677C>T						ABCC11_uc002efg.1_Silent_p.V203V|ABCC11_uc002efh.1_Silent_p.V203V|ABCC11_uc010vgl.1_Silent_p.V203V	p.V203V	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			5	959	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	203			ABC transmembrane type-1 1.|Helical; (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.609G>A	CCDS10732.1																																																																																				0.458	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		10	53	0	0	0	0.006214	0	10	53				
NUDT21	11051	broad.mit.edu	37	16	56485055	56485055	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:56485055G>A	ENST00000300291.5	-	1	232	c.60C>T	c.(58-60)ttC>ttT	p.F20F	OGFOD1_ENST00000566157.1_5'Flank|OGFOD1_ENST00000568397.1_5'Flank	NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	20	Necessary for RNA-binding.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	AU-rich element binding (GO:0017091)|histone deacetylase binding (GO:0042826)|hydrolase activity (GO:0016787)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.F20F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						ACTTGTTGCCGAACTGAGTGA	0.642																																							uc002eja.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(58-60)TTC>TTT		cleavage and polyadenylation specific factor 5							86.0	89.0	88.0					16																	56485055		2198	4300	6498	SO:0001819	synonymous_variant	11051				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity	g.chr16:56485055G>A	AJ001810	CCDS10760.1	16q12.2	2013-06-18	2005-07-11	2005-07-11	ENSG00000167005	ENSG00000167005		"""Nudix motif containing"""	13870	protein-coding gene	gene with protein product	"""cleavage factor Im complex 25 kDa subunit"""	604978	"""cleavage and polyadenylation specific factor 5, 25 kDa"", ""cleavage and polyadenylation specific factor 5, 25 kD subunit"""	CPSF5		9659921	Standard	NM_007006		Approved	CFIM25	uc002eja.3	O43809	OTTHUMG00000133240	ENST00000300291.5:c.60C>T	16.37:g.56485055G>A						OGFOD1_uc002ejb.2_5'Flank|OGFOD1_uc002ejc.2_5'Flank	p.F20F	NM_007006	NP_008937	O43809	CPSF5_HUMAN			1	207	-			20			Necessary for RNA-binding.		Q6IB85|Q6NE84	Silent	SNP	ENST00000300291.5	37	c.60C>T	CCDS10760.1																																																																																				0.642	NUDT21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256980.3	NM_007006		17	115	0	0	0	0.010504	0	17	115				
CDH8	1006	broad.mit.edu	37	16	61851450	61851450	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:61851450C>A	ENST00000577390.1	-	7	2164	c.1210G>T	c.(1210-1212)Gct>Tct	p.A404S	CDH8_ENST00000299345.6_Missense_Mutation_p.A404S|CDH8_ENST00000584337.1_Missense_Mutation_p.A404S|CDH8_ENST00000577730.1_Missense_Mutation_p.A404S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	404	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.A404S(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTAGAGCAGCATTTTCATGA	0.443																																							uc002eog.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(1210-1212)GCT>TCT		cadherin 8, type 2 preproprotein							90.0	82.0	85.0					16																	61851450		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61851450C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1210G>T	16.37:g.61851450C>A	ENSP00000462701:p.Ala404Ser					CDH8_uc002eoh.2_Missense_Mutation_p.A173S	p.A404S	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	7	1462	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	404			Extracellular (Potential).|Cadherin 4.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1210G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.832335	0.91036	.	.	ENSG00000150394	ENST00000299345	T	0.54479	0.57	6.17	6.17	0.99709	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.69655	0.3135	L	0.51914	1.62	0.80722	D	1	D;P	0.69078	0.997;0.874	D;P	0.74348	0.983;0.734	T	0.65092	-0.6252	10	0.46703	T	0.11	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	220;404	Q3LID3;P55286	.;CADH8_HUMAN	S	404	ENSP00000299345:A404S	ENSP00000299345:A404S	A	-	1	0	CDH8	60408951	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.657000	0.61490	2.941000	0.99782	0.655000	0.94253	GCT		0.443	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		15	73	1	0	7.93312e-07	0.00245	9.64212e-07	15	73				
RANBP10	57610	broad.mit.edu	37	16	67763221	67763221	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:67763221C>A	ENST00000317506.3	-	10	1429	c.1314G>T	c.(1312-1314)aaG>aaT	p.K438N	RANBP10_ENST00000536251.1_Missense_Mutation_p.K209N|RANBP10_ENST00000602677.1_Missense_Mutation_p.K438N|RANBP10_ENST00000448631.2_Missense_Mutation_p.K382N|RANBP10_ENST00000411657.2_Missense_Mutation_p.K321N	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	438	Ser-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.K438N(1)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GGTGCTGGGACTTGGTGGAGT	0.592																																							uc002eud.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1312-1314)AAG>AAT		RAN binding protein 10							284.0	258.0	267.0					16																	67763221		2198	4300	6498	SO:0001583	missense	57610							g.chr16:67763221C>A	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1314G>T	16.37:g.67763221C>A	ENSP00000316589:p.Lys438Asn					RANBP10_uc010ceo.2_Missense_Mutation_p.K209N|RANBP10_uc010vju.1_Missense_Mutation_p.K382N|RANBP10_uc010vjv.1_Missense_Mutation_p.K321N|RANBP10_uc010vjw.1_Missense_Mutation_p.K99N	p.K438N	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	10	1430	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	438			Ser-rich.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	c.1314G>T	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100064	0.56183	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.65	4.61	0.57282	.	0.104588	0.64402	D	0.000004	T	0.59810	0.2221	M	0.65498	2.005	0.80722	D	1	P;P;P	0.47484	0.77;0.896;0.605	P;P;P	0.48952	0.5;0.596;0.491	T	0.60326	-0.7285	9	0.44086	T	0.13	-15.4459	8.0343	0.30482	0.0:0.833:0.0:0.167	.	321;382;438	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	N	438;382;209;321	.	ENSP00000316589:K438N	K	-	3	2	RANBP10	66320722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.425000	0.52771	2.681000	0.91329	0.563000	0.77884	AAG		0.592	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		11	74	1	0	4.68919e-08	0.008291	6.05356e-08	11	74				
CDH3	1001	broad.mit.edu	37	16	68721600	68721600	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:68721600G>T	ENST00000264012.4	+	12	2300	c.1756G>T	c.(1756-1758)Gac>Tac	p.D586Y	CDH3_ENST00000429102.2_Missense_Mutation_p.D586Y|CDH3_ENST00000581171.1_Missense_Mutation_p.D531Y	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	586	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)|p.D586Y(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GCTCACAGATGACTCAGACAT	0.607																																							uc002ewf.2		NA																	3	Unknown(2)|Substitution - Missense(1)	p.?(1)	breast(2)|lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(1756-1758)GAC>TAC		cadherin 3, type 1 preproprotein							117.0	88.0	98.0					16																	68721600		2198	4300	6498	SO:0001583	missense	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68721600G>T	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1756G>T	16.37:g.68721600G>T	ENSP00000264012:p.Asp586Tyr					CDH3_uc010vli.1_Missense_Mutation_p.D531Y	p.D586Y	NM_001793	NP_001784	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	12	2888	+		Ovarian(137;0.0564)	586			Cadherin 5.|Extracellular (Potential).		B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	c.1756G>T	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	G	9.892	1.204608	0.22205	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.61980	0.06;0.06	5.18	5.18	0.71444	Cadherin (1);Cadherin-like (1);	0.000000	0.43579	D	0.000559	T	0.73822	0.3636	L	0.59436	1.845	0.51482	D	0.999928	D	0.65815	0.995	P	0.61800	0.894	T	0.76154	-0.3063	10	0.62326	D	0.03	.	16.2028	0.82102	0.0:0.0:1.0:0.0	.	586	P22223	CADH3_HUMAN	Y	586;586;531	ENSP00000398485:D586Y;ENSP00000264012:D586Y	ENSP00000264012:D586Y	D	+	1	0	CDH3	67279101	1.000000	0.71417	0.090000	0.20809	0.311000	0.27955	5.366000	0.66122	2.413000	0.81919	0.563000	0.77884	GAC		0.607	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		10	50	1	0	3.07112e-06	0.000978	3.66449e-06	10	50				
AP1G1	164	broad.mit.edu	37	16	71772945	71772945	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:71772945C>A	ENST00000299980.4	-	21	2609	c.2168G>T	c.(2167-2169)cGg>cTg	p.R723L	AP1G1_ENST00000569748.1_Missense_Mutation_p.R723L|AP1G1_ENST00000564155.1_Missense_Mutation_p.R148L|AP1G1_ENST00000393512.3_Missense_Mutation_p.R726L|AP1G1_ENST00000433195.2_Missense_Mutation_p.R746L|AP1G1_ENST00000423132.2_Missense_Mutation_p.R726L	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	723	GAE. {ECO:0000255|PROSITE- ProRule:PRU00093}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.R723L(1)		breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GGTATTTGACCGTTCAAAGGT	0.443																																							uc010cgg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2167-2169)CGG>CTG		adaptor-related protein complex 1, gamma 1							251.0	221.0	231.0					16																	71772945		2198	4300	6498	SO:0001583	missense	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71772945C>A	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.2168G>T	16.37:g.71772945C>A	ENSP00000299980:p.Arg723Leu					AP1G1_uc002fba.2_Missense_Mutation_p.R726L|AP1G1_uc002fbb.2_Missense_Mutation_p.R746L|AP1G1_uc002faz.2_Missense_Mutation_p.R140L	p.R723L	NM_001128	NP_001119	O43747	AP1G1_HUMAN			21	2482	-		Ovarian(137;0.125)	723			GAE.		O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	c.2168G>T	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598226	0.87055	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.29	5.29	0.74685	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (2);Clathrin adaptor, alpha/beta/gamma-adaptin, appendage, Ig-like subdomain (2);	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	M	0.75615	2.305	0.80722	D	1	P;P;P	0.44344	0.727;0.833;0.827	B;B;B	0.42112	0.376;0.361;0.33	T	0.59710	-0.7403	10	0.72032	D	0.01	-7.3528	18.9325	0.92571	0.0:1.0:0.0:0.0	.	723;746;726	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	L	723;726;726;746	ENSP00000299980:R723L;ENSP00000377148:R726L;ENSP00000409153:R726L;ENSP00000403259:R746L	ENSP00000299980:R723L	R	-	2	0	AP1G1	70330446	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.467000	0.83353	0.650000	0.86243	CGG		0.443	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			21	109	1	0	1.28384e-07	0.001882	1.62076e-07	21	109				
ADAMTS18	170692	broad.mit.edu	37	16	77359817	77359817	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:77359817T>A	ENST00000282849.5	-	13	2396	c.1978A>T	c.(1978-1980)Agc>Tgc	p.S660C		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	660	Cys-rich.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S660C(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AAAGGTTTGCTGTTATATTCT	0.393																																							uc002ffc.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(1978-1980)AGC>TGC		ADAM metallopeptidase with thrombospondin type 1							126.0	112.0	117.0					16																	77359817		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77359817T>A	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1978A>T	16.37:g.77359817T>A	ENSP00000282849:p.Ser660Cys					ADAMTS18_uc010chc.1_Missense_Mutation_p.S248C|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S356C	p.S660C	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			13	2397	-			660			Cys-rich.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.1978A>T	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.693019	0.88735	.	.	ENSG00000140873	ENST00000282849	T	0.63913	-0.07	5.99	4.9	0.64082	.	0.086607	0.85682	D	0.000000	T	0.81245	0.4782	M	0.93638	3.44	0.44789	D	0.997795	D;D	0.58268	0.982;0.972	P;P	0.61003	0.882;0.806	D	0.84602	0.0673	10	0.72032	D	0.01	.	11.3407	0.49531	0.0:0.0703:0.0:0.9297	.	660;660	Q8TE60-2;Q8TE60	.;ATS18_HUMAN	C	660	ENSP00000282849:S660C	ENSP00000282849:S660C	S	-	1	0	ADAMTS18	75917318	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.286000	0.58995	1.095000	0.41419	0.533000	0.62120	AGC		0.393	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			17	52	0	0	0	0.00499	0	17	52				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	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		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)CGC>CAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	p.R175H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (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.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	40	0	0	0	0.003954	0	21	40				
MYH8	4626	broad.mit.edu	37	17	10299657	10299657	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:10299657T>A	ENST00000403437.2	-	33	4737	c.4643A>T	c.(4642-4644)gAg>gTg	p.E1548V	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1548					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.E1548V(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCTGCTTCCTCTAAAGCAGC	0.358									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																														uc002gmm.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(4642-4644)GAG>GTG		myosin, heavy chain 8, skeletal muscle,							150.0	133.0	138.0					17																	10299657		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10299657T>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4643A>T	17.37:g.10299657T>A	ENSP00000384330:p.Glu1548Val					uc002gml.1_Intron	p.E1548V	NM_002472	NP_002463	P13535	MYH8_HUMAN			33	4738	-			1548			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4643A>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.339211	0.81911	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.86497	-2.13	5.26	5.26	0.73747	Myosin tail (1);	0.000000	0.42053	U	0.000765	D	0.95758	0.8620	H	0.96916	3.905	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.97223	0.9879	10	0.87932	D	0	.	15.3476	0.74350	0.0:0.0:0.0:1.0	.	1548	P13535	MYH8_HUMAN	V	1548	ENSP00000384330:E1548V	ENSP00000252173:E1548V	E	-	2	0	MYH8	10240382	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.720000	0.84759	2.215000	0.71742	0.528000	0.53228	GAG		0.358	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		9	48	0	0	0	0.006214	0	9	48				
MYH4	4622	broad.mit.edu	37	17	10351278	10351278	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:10351278C>T	ENST00000255381.2	-	34	4932	c.4822G>A	c.(4822-4824)Gag>Aag	p.E1608K	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1608					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)	p.E1608K(1)		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						CTCCTGATCTCAGCATCCAGT	0.453																																							uc002gmn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(4822-4824)GAG>AAG		myosin, heavy polypeptide 4, skeletal muscle							267.0	233.0	245.0					17																	10351278		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.chr17:10351278C>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.4822G>A	17.37:g.10351278C>T	ENSP00000255381:p.Glu1608Lys					uc002gml.1_Intron	p.E1608K	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			34	4933	-			1608			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.4822G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030750	0.93575	.	.	ENSG00000141048	ENST00000255381	D	0.90504	-2.68	5.52	5.52	0.82312	Myosin tail (1);	0.000000	0.37761	U	0.001944	D	0.94059	0.8096	M	0.73430	2.235	0.80722	D	1	D	0.53312	0.959	P	0.54924	0.764	D	0.94332	0.7563	10	0.87932	D	0	.	19.7965	0.96487	0.0:1.0:0.0:0.0	.	1608	Q9Y623	MYH4_HUMAN	K	1608	ENSP00000255381:E1608K	ENSP00000255381:E1608K	E	-	1	0	MYH4	10292003	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.761000	0.85260	2.747000	0.94245	0.655000	0.94253	GAG		0.453	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		14	232	0	0	0	0.00245	0	14	232				
DNAH9	1770	broad.mit.edu	37	17	11671895	11671895	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:11671895G>T	ENST00000262442.4	+	37	7364	c.7296G>T	c.(7294-7296)tgG>tgT	p.W2432C	DNAH9_ENST00000454412.2_Missense_Mutation_p.W2432C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2432					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)	p.W2432C(1)		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)		TCGAGCCTTGGTCCAAGCTCG	0.527																																							uc002gne.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(7294-7296)TGG>TGT		dynein, axonemal, heavy chain 9 isoform 2							89.0	77.0	81.0					17																	11671895		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.chr17:11671895G>T	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.7296G>T	17.37:g.11671895G>T	ENSP00000262442:p.Trp2432Cys					DNAH9_uc010coo.2_Missense_Mutation_p.W1726C	p.W2432C	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	37	7364	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2432					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.7296G>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399134	0.83120	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.47528	0.89;0.84	5.46	5.46	0.80206	.	0.856853	0.10194	N	0.704216	D	0.83348	0.5235	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.86384	0.1731	10	0.87932	D	0	.	19.2998	0.94140	0.0:0.0:1.0:0.0	.	2432	Q9NYC9	DYH9_HUMAN	C	2432;2432;1014	ENSP00000262442:W2432C;ENSP00000414874:W2432C	ENSP00000262442:W2432C	W	+	3	0	DNAH9	11612620	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.694000	0.98686	2.549000	0.85964	0.655000	0.94253	TGG		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		7	71	1	0	1.12685e-05	0.004482	1.32724e-05	7	71				
ALDH3A2	224	broad.mit.edu	37	17	19555892	19555892	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:19555892A>T	ENST00000176643.6	+	3	864	c.418A>T	c.(418-420)Agt>Tgt	p.S140C	Y_RNA_ENST00000578640.1_RNA|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.S140C|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.S140C|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.S140C|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.S140C			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	140					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)	p.S140C(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					TTCTGAACTGAGTGAAAATAC	0.333																																							uc002gwb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(418-420)AGT>TGT		aldehyde dehydrogenase 3A2 isoform 2	NADH(DB00157)						123.0	121.0	122.0					17																	19555892		2203	4300	6503	SO:0001583	missense	224				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase	g.chr17:19555892A>T	L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"""Aldehyde dehydrogenases"""	403	protein-coding gene	gene with protein product	"""fatty aldehyde dehydrogenase"""	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.418A>T	17.37:g.19555892A>T	ENSP00000176643:p.Ser140Cys					ALDH3A2_uc002gwa.1_Missense_Mutation_p.S140C|ALDH3A2_uc010cqr.1_5'UTR|ALDH3A2_uc002gwc.1_Missense_Mutation_p.S140C	p.S140C	NM_000382	NP_000373	P51648	AL3A2_HUMAN			3	639	+	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)		140			Cytoplasmic.		Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	ENST00000176643.6	37	c.418A>T	CCDS11210.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.717278	0.68844	.	.	ENSG00000072210	ENST00000446398;ENST00000176643;ENST00000395575;ENST00000339618	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.73	3.47	0.39725	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.035623	0.85682	N	0.000000	D	0.83653	0.5301	M	0.63843	1.955	0.80722	D	1	D;D	0.60575	0.988;0.988	D;D	0.64595	0.921;0.927	T	0.82822	-0.0267	10	0.72032	D	0.01	-11.5494	10.5681	0.45184	0.743:0.0:0.0:0.257	.	140;140	P51648;P51648-2	AL3A2_HUMAN;.	C	140	ENSP00000395845:S140C;ENSP00000176643:S140C;ENSP00000378942:S140C;ENSP00000345774:S140C	ENSP00000176643:S140C	S	+	1	0	ALDH3A2	19496484	0.998000	0.40836	0.995000	0.50966	0.993000	0.82548	2.765000	0.47621	0.407000	0.25591	0.528000	0.53228	AGT		0.333	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1			35	116	0	0	0	0.005524	0	35	116				
SLC46A1	113235	broad.mit.edu	37	17	26732045	26732045	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:26732045G>C	ENST00000440501.1	-	2	765	c.670C>G	c.(670-672)Ctc>Gtc	p.L224V	SLC46A1_ENST00000321666.5_Missense_Mutation_p.L224V|SLC46A1_ENST00000584729.1_5'UTR|CTD-2350C19.1_ENST00000583956.1_RNA|CTD-2350C19.2_ENST00000580714.1_RNA	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	224					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)	p.L224V(1)		lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	GCTGCATAGAGAGTCATGGCT	0.597																																							uc002hbf.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(670-672)CTC>GTC		proton-coupled folate transporter	Folic Acid(DB00158)						83.0	90.0	88.0					17																	26732045		1959	4164	6123	SO:0001583	missense	113235				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity	g.chr17:26732045G>C	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.670C>G	17.37:g.26732045G>C	ENSP00000395653:p.Leu224Val					SLC46A1_uc002hbg.1_Missense_Mutation_p.L224V|SLC46A1_uc010wak.1_Missense_Mutation_p.L224V	p.L224V	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	766	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		224			Helical; (Potential).		Q1HE20|Q86T92|Q8TEG3|Q96FL0	Missense_Mutation	SNP	ENST00000440501.1	37	c.670C>G		.	.	.	.	.	.	.	.	.	.	G	6.302	0.423893	0.11928	.	.	ENSG00000076351	ENST00000440501;ENST00000321666	T;T	0.56103	0.48;0.48	5.26	0.733	0.18289	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.260691	0.38959	N	0.001502	T	0.36635	0.0974	.	.	.	0.22531	N	0.999019	B;B;B	0.22480	0.07;0.011;0.014	B;B;B	0.31812	0.136;0.01;0.017	T	0.22906	-1.0203	9	0.24483	T	0.36	-9.2192	6.9542	0.24562	0.2162:0.2686:0.5151:0.0	.	224;224;224	B4DJ17;Q96NT5-2;Q96NT5	.;.;PCFT_HUMAN	V	224	ENSP00000395653:L224V;ENSP00000318828:L224V	ENSP00000318828:L224V	L	-	1	0	SLC46A1	23756172	0.998000	0.40836	0.349000	0.25694	0.333000	0.28666	2.512000	0.45485	0.320000	0.23234	0.462000	0.41574	CTC		0.597	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		24	77	0	0	0	0.00278	0	24	77				
KIAA0100	9703	broad.mit.edu	37	17	26962061	26962061	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:26962061C>T	ENST00000528896.2	-	16	2618	c.2544G>A	c.(2542-2544)ctG>ctA	p.L848L	RP11-192H23.7_ENST00000577814.1_RNA|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.L705L|KIAA0100_ENST00000544884.1_Silent_p.L705L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	848						extracellular region (GO:0005576)		p.L848L(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GTAGTCCCTTCAGCCACTTCT	0.507																																							uc002hbu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(2542-2544)CTG>CTA		hypothetical protein LOC9703 precursor							142.0	158.0	152.0					17																	26962061		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26962061C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2544G>A	17.37:g.26962061C>T							p.L848L	NM_014680	NP_055495	Q14667	K0100_HUMAN			16	2643	-	Lung NSC(42;0.00431)		848					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.2544G>A	CCDS32595.1																																																																																				0.507	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		39	238	0	0	0	0.004878	0	39	238				
DHRS11	79154	broad.mit.edu	37	17	34955412	34955412	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:34955412C>T	ENST00000251312.5	+	4	727	c.515C>T	c.(514-516)gCc>gTc	p.A172V	DHRS11_ENST00000590554.1_Missense_Mutation_p.A93V|MRM1_ENST00000250156.7_5'Flank|MRM1_ENST00000585770.1_5'Flank	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	172						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.A172V(1)		endometrium(1)|lung(4)	5						ACCAAGTATGCCGTCACTGCG	0.607																																							uc002hnd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(514-516)GCC>GTC		short-chain dehydrogenase/reductase precursor							105.0	99.0	101.0					17																	34955412		2203	4300	6503	SO:0001583	missense	79154					extracellular region	binding|oxidoreductase activity	g.chr17:34955412C>T		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442	ENST00000251312.5:c.515C>T	17.37:g.34955412C>T	ENSP00000251312:p.Ala172Val					MRM1_uc002hne.2_5'Flank|MRM1_uc002hnf.2_5'Flank	p.A172V	NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN			4	729	+			172					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.515C>T	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	C	36	5.602160	0.96614	.	.	ENSG00000108272	ENST00000251312	D	0.89343	-2.5	5.75	5.75	0.90469	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.139951	0.64402	D	0.000004	D	0.97244	0.9099	H	0.99299	4.505	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.98254	1.0495	10	0.72032	D	0.01	-26.0056	19.319	0.94229	0.0:1.0:0.0:0.0	.	172	Q6UWP2	DHR11_HUMAN	V	172	ENSP00000251312:A172V	ENSP00000251312:A172V	A	+	2	0	DHRS11	32029525	1.000000	0.71417	0.864000	0.33941	0.987000	0.75469	7.199000	0.77831	2.894000	0.99253	0.655000	0.94253	GCC		0.607	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		4	123	0	0	0	0.000602	0	4	123				
KRT26	353288	broad.mit.edu	37	17	38926533	38926533	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:38926533A>G	ENST00000335552.4	-	3	701	c.653T>C	c.(652-654)tTg>tCg	p.L218S		NM_181539.4	NP_853517.2			keratin 26									p.L218S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				GAGGTAGGTCAATTCCTCACT	0.473																																							uc002hvf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(652-654)TTG>TCG		keratin 26							123.0	118.0	119.0					17																	38926533		2203	4300	6503	SO:0001583	missense	353288					intermediate filament	structural molecule activity	g.chr17:38926533A>G	AJ564205	CCDS11374.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000186393	ENSG00000186393		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30840	protein-coding gene	gene with protein product			"""keratin 25B"""	KRT25B		16831889	Standard	NM_181539		Approved		uc002hvf.3	Q7Z3Y9	OTTHUMG00000133370	ENST00000335552.4:c.653T>C	17.37:g.38926533A>G	ENSP00000334798:p.Leu218Ser						p.L218S	NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN			3	699	-		Breast(137;0.00526)	218			Rod.|Coil 1B.			Missense_Mutation	SNP	ENST00000335552.4	37	c.653T>C	CCDS11374.1	.	.	.	.	.	.	.	.	.	.	A	16.98	3.272159	0.59649	.	.	ENSG00000186393	ENST00000335552	D	0.91295	-2.82	5.18	5.18	0.71444	Filament (1);	0.000000	0.46145	D	0.000320	D	0.96999	0.9020	H	0.98218	4.175	0.18873	N	0.999985	D	0.63046	0.992	D	0.68483	0.958	D	0.92253	0.5810	10	0.87932	D	0	.	14.5122	0.67794	1.0:0.0:0.0:0.0	.	218	Q7Z3Y9	K1C26_HUMAN	S	218	ENSP00000334798:L218S	ENSP00000334798:L218S	L	-	2	0	KRT26	36180059	0.804000	0.28969	0.005000	0.12908	0.569000	0.35902	5.985000	0.70556	2.093000	0.63338	0.533000	0.62120	TTG		0.473	KRT26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257215.1	NM_181539		20	87	0	0	0	0.008871	0	20	87				
SPATA32	124783	broad.mit.edu	37	17	43332645	43332645	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:43332645C>T	ENST00000331780.4	-	4	999	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000543122.1_Missense_Mutation_p.E281K|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	302					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)		p.E302K(1)									GCTCTGGCTTCGCGTGGTTTC	0.557																																							uc002iis.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(904-906)GAA>AAA		hypothetical protein LOC124783							180.0	163.0	169.0					17																	43332645		2203	4300	6503	SO:0001583	missense	124783							g.chr17:43332645C>T	AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.904G>A	17.37:g.43332645C>T	ENSP00000331532:p.Glu302Lys					LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Missense_Mutation_p.E281K	p.E302K	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN			4	1000	-			302					Q7Z4U1|Q8N6V6	Missense_Mutation	SNP	ENST00000331780.4	37	c.904G>A	CCDS32669.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780052	0.49891	.	.	ENSG00000184361	ENST00000331780;ENST00000543122	T;T	0.47869	0.83;0.83	3.94	-1.14	0.09741	.	0.954599	0.08612	N	0.919859	T	0.32255	0.0823	L	0.36672	1.1	0.09310	N	1	B	0.28470	0.213	B	0.24848	0.056	T	0.22977	-1.0201	10	0.21014	T	0.42	-0.8054	7.3107	0.26473	0.0:0.2855:0.0:0.7145	.	302	Q96LK8	CQ046_HUMAN	K	302;281	ENSP00000331532:E302K;ENSP00000442724:E281K	ENSP00000331532:E302K	E	-	1	0	C17orf46	40688428	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.863000	0.04259	-0.054000	0.13266	0.561000	0.74099	GAA		0.557	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1	NM_152343		53	177	0	0	0	0.00361	0	53	177				
NXPH3	11248	broad.mit.edu	37	17	47656116	47656116	+	Silent	SNP	G	G	T	rs551752487		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:47656116G>T	ENST00000328741.5	+	2	575	c.213G>T	c.(211-213)ccG>ccT	p.P71P	RP5-1029K10.4_ENST00000503624.1_RNA|NXPH3_ENST00000513748.1_Silent_p.P71P	NM_007225.2	NP_009156.2	O95157	NXPH3_HUMAN	neurexophilin 3	71	II.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.P71P(3)		endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2)	12	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)					TGCTGGCCCCGCCTGGGGAGG	0.682																																							uc002ipa.2		NA																	3	Substitution - coding silent(3)	p.P71P(1)	lung(1)|endometrium(1)|pancreas(1)	pancreas(1)|skin(1)	2						c.(211-213)CCG>CCT		neurexophilin 3 precursor							28.0	32.0	31.0					17																	47656116		2202	4296	6498	SO:0001819	synonymous_variant	11248				neuropeptide signaling pathway	extracellular region		g.chr17:47656116G>T	AF043468	CCDS11550.1	17q	2008-07-03				ENSG00000182575			8077	protein-coding gene	gene with protein product		604636				9570794	Standard	NM_007225		Approved	NPH3	uc002ipa.3	O95157		ENST00000328741.5:c.213G>T	17.37:g.47656116G>T						NXPH3_uc010wlw.1_Silent_p.P71P	p.P71P	NM_007225	NP_009156	O95157	NXPH3_HUMAN			2	497	+	all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17)		71			II.		Q8NDC3|Q8TBF6|Q9ULR1	Silent	SNP	ENST00000328741.5	37	c.213G>T	CCDS11550.1																																																																																				0.682	NXPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365143.1			8	50	1	0	0.00307968	0.00308	0.00330379	8	50				
APPBP2	10513	broad.mit.edu	37	17	58571907	58571907	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:58571907G>C	ENST00000083182.3	-	3	586	c.299C>G	c.(298-300)tCa>tGa	p.S100*		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	100					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)	p.S100*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CCTACTGAATGAGTAGGCCAA	0.373																																							uc002iys.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(298-300)TCA>TGA		amyloid beta precursor protein-binding protein							97.0	94.0	95.0					17																	58571907		2203	4300	6503	SO:0001587	stop_gained	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58571907G>C	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.299C>G	17.37:g.58571907G>C	ENSP00000083182:p.Ser100*					APPBP2_uc010ddl.1_Nonsense_Mutation_p.S29*	p.S100*	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		3	587	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		100					A8K862|O95095|Q8WVC9	Nonsense_Mutation	SNP	ENST00000083182.3	37	c.299C>G	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	G	39	7.650330	0.98412	.	.	ENSG00000062725	ENST00000083182	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-5.7676	20.2165	0.98299	0.0:0.0:1.0:0.0	.	.	.	.	X	100	.	ENSP00000083182:S100X	S	-	2	0	APPBP2	55926689	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.781000	0.95711	0.591000	0.81541	TCA		0.373	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		13	74	0	0	0	0.00245	0	13	74				
CACNG5	27091	broad.mit.edu	37	17	64881158	64881158	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:64881158A>T	ENST00000533854.1	+	6	866	c.629A>T	c.(628-630)tAc>tTc	p.Y210F	CACNG5_ENST00000307139.3_Missense_Mutation_p.Y210F			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	210				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089). {ECO:0000305}.	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)	p.Y210F(1)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GAGGACATGTACAGGCCCCAC	0.632																																							uc010wqi.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(628-630)TAC>TTC		voltage-dependent calcium channel gamma-5							71.0	62.0	65.0					17																	64881158		2203	4300	6503	SO:0001583	missense	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64881158A>T	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.629A>T	17.37:g.64881158A>T	ENSP00000436836:p.Tyr210Phe					CACNG5_uc010wqj.1_Missense_Mutation_p.Y210F	p.Y210F	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		6	866	+			210	SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).				A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	c.629A>T	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	A	19.00	3.742045	0.69418	.	.	ENSG00000075429	ENST00000533854;ENST00000307139	T;T	0.44083	0.93;0.93	3.42	3.42	0.39159	.	.	.	.	.	T	0.35856	0.0946	L	0.29908	0.895	0.80722	D	1	D	0.55172	0.97	P	0.48704	0.587	T	0.04593	-1.0940	9	0.22109	T	0.4	.	12.1181	0.53875	1.0:0.0:0.0:0.0	.	210	Q9UF02	CCG5_HUMAN	F	210	ENSP00000436836:Y210F;ENSP00000303092:Y210F	ENSP00000303092:Y210F	Y	+	2	0	CACNG5	62311620	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.462000	0.90374	1.815000	0.52974	0.491000	0.48974	TAC		0.632	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		8	45	0	0	0	0.004482	0	8	45				
OTOP3	347741	broad.mit.edu	37	17	72943237	72943237	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:72943237C>T	ENST00000328801.4	+	6	1287	c.1287C>T	c.(1285-1287)atC>atT	p.I429I		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	429						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.I429I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGATGGGCATCGCCTATTTCT	0.612																																							uc010wrr.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1285-1287)ATC>ATT		otopetrin 3							88.0	86.0	87.0					17																	72943237		2203	4300	6503	SO:0001819	synonymous_variant	347741					integral to membrane|intracellular	zinc ion binding	g.chr17:72943237C>T	BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.1287C>T	17.37:g.72943237C>T						OTOP3_uc010wrq.1_Silent_p.I411I	p.I429I	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN			6	1287	+	all_lung(278;0.151)|Lung NSC(278;0.185)		429			Helical; (Potential).			Silent	SNP	ENST00000328801.4	37	c.1287C>T	CCDS11709.1																																																																																				0.612	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445308.1	NM_178233		11	36	0	0	0	0.000978	0	11	36				
BAIAP2	10458	broad.mit.edu	37	17	79058648	79058648	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:79058648G>A	ENST00000321300.6	+	4	327	c.234G>A	c.(232-234)caG>caA	p.Q78Q	BAIAP2_ENST00000435091.3_Silent_p.Q78Q|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000575245.1_Silent_p.Q111Q|BAIAP2_ENST00000575712.1_Silent_p.Q78Q|BAIAP2_ENST00000392411.3_De_novo_Start_InFrame|BAIAP2_ENST00000428708.2_Silent_p.Q78Q|BAIAP2_ENST00000321280.7_Silent_p.Q78Q	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	78	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)	p.Q78Q(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TTCTCTTCCAGATGGCTGAAG	0.612																																							uc002jzg.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(232-234)CAG>CAA		BAI1-associated protein 2 isoform 2							194.0	181.0	185.0					17																	79058648		2203	4300	6503	SO:0001819	synonymous_variant	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79058648G>A	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.234G>A	17.37:g.79058648G>A						BAIAP2_uc002jyz.3_Silent_p.Q78Q|BAIAP2_uc002jza.2_Silent_p.Q78Q|BAIAP2_uc002jzc.2_Silent_p.Q78Q|BAIAP2_uc002jzb.2_5'UTR|BAIAP2_uc002jzd.2_Silent_p.Q78Q|BAIAP2_uc002jzf.2_Silent_p.Q78Q|BAIAP2_uc002jze.2_Silent_p.Q111Q|BAIAP2_uc010wuh.1_5'UTR|BAIAP2_uc002jzh.2_5'Flank	p.Q78Q	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		4	342	+	all_neural(118;0.101)		78			IMD.		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	ENST00000321300.6	37	c.234G>A	CCDS11775.1																																																																																				0.612	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			34	200	0	0	0	0.005524	0	34	200				
TBCD	6904	broad.mit.edu	37	17	80772804	80772804	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr17:80772804G>T	ENST00000355528.4	+	13	1442	c.1312G>T	c.(1312-1314)Gtg>Ttg	p.V438L	TBCD_ENST00000397466.2_Missense_Mutation_p.V52L|TBCD_ENST00000539345.2_Missense_Mutation_p.V438L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	438					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.V438L(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GTCTCGACTCGTGGATGGTGA	0.632																																							uc002kfz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1312-1314)GTG>TTG		beta-tubulin cofactor D							51.0	55.0	54.0					17																	80772804		2162	4264	6426	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80772804G>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1312G>T	17.37:g.80772804G>T	ENSP00000347719:p.Val438Leu					TBCD_uc002kfx.1_Missense_Mutation_p.V421L|TBCD_uc002kfy.1_Missense_Mutation_p.V438L	p.V438L	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		13	1442	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	438					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.1312G>T	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862676	0.32884	.	.	ENSG00000141556	ENST00000355528;ENST00000269368;ENST00000334614;ENST00000397466;ENST00000536182	T;T	0.13089	2.62;2.62	4.83	-9.66	0.00534	Armadillo-like helical (1);Armadillo-type fold (1);	7.765600	0.00909	N	0.002441	T	0.06050	0.0157	N	0.17474	0.49	0.09310	N	1	B;B;B	0.29037	0.143;0.231;0.007	B;B;B	0.30855	0.039;0.121;0.008	T	0.24048	-1.0171	9	.	.	.	.	0.9425	0.01358	0.2875:0.3029:0.1064:0.3033	.	438;438;438	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	L	438;421;189;52;438	ENSP00000347719:V438L;ENSP00000380608:V52L	.	V	+	1	0	TBCD	78366093	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	-2.271000	0.01166	-2.144000	0.00802	0.585000	0.79938	GTG		0.632	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		9	40	1	0	0.00621372	0.006214	0.00658856	9	40				
ANKRD12	23253	broad.mit.edu	37	18	9195663	9195663	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr18:9195663C>T	ENST00000262126.4	+	3	442	c.202C>T	c.(202-204)Cca>Tca	p.P68S	ANKRD12_ENST00000400020.3_Missense_Mutation_p.P68S|ANKRD12_ENST00000383440.2_Missense_Mutation_p.P68S|ANKRD12_ENST00000540578.2_3'UTR	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	68						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P68S(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TACTATTAGCCCATCAAGAAA	0.353																																							uc002knv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(202-204)CCA>TCA		ankyrin repeat domain 12 isoform 1							83.0	80.0	81.0					18																	9195663		2203	4300	6503	SO:0001583	missense	23253					nucleus		g.chr18:9195663C>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.202C>T	18.37:g.9195663C>T	ENSP00000262126:p.Pro68Ser					ANKRD12_uc010wzn.1_Missense_Mutation_p.P68S|ANKRD12_uc002knw.2_Missense_Mutation_p.P68S|ANKRD12_uc002knx.2_Missense_Mutation_p.P68S	p.P68S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			3	459	+			68					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.202C>T	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544089	0.65198	.	.	ENSG00000101745	ENST00000383440;ENST00000546007;ENST00000262126;ENST00000540578	T;T;T	0.72167	3.53;-0.63;3.53	5.57	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.81216	0.4776	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.996	T	0.82864	-0.0246	10	0.66056	D	0.02	-8.5475	14.4397	0.67306	0.0:0.9291:0.0:0.0709	.	68;68;68	Q6PG48;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	S	68	ENSP00000372932:P68S;ENSP00000441510:P68S;ENSP00000262126:P68S	ENSP00000262126:P68S	P	+	1	0	ANKRD12	9185663	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.148000	0.77389	1.368000	0.46115	0.555000	0.69702	CCA		0.353	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		6	63	0	0	0	0.001168	0	6	63				
CEP192	55125	broad.mit.edu	37	18	13124735	13124735	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr18:13124735T>G	ENST00000325971.8	+	43	7385	c.5792T>G	c.(5791-5793)aTt>aGt	p.I1931S	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.I2052S|CEP192_ENST00000506447.1_Missense_Mutation_p.I2527S			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1931					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)	p.I1931S(1)|p.I2527S(1)		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						AGTATTGCTATTCGACTAATT	0.348																																							uc010xac.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(7579-7581)ATT>AGT		centrosomal protein 192kDa							61.0	60.0	60.0					18																	13124735		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13124735T>G	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.5792T>G	18.37:g.13124735T>G	ENSP00000317156:p.Ile1931Ser					CEP192_uc010xad.1_Missense_Mutation_p.I2052S|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.I950S|CEP192_uc002krw.2_Missense_Mutation_p.I677S|CEP192_uc002krx.2_Missense_Mutation_p.I531S|CEP192_uc002kry.2_RNA	p.I2527S	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			45	7660	+			2527					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.7580T>G		.	.	.	.	.	.	.	.	.	.	T	21.6	4.171834	0.78452	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.09911	2.93;2.93;2.93	5.59	5.59	0.84812	.	0.219121	0.46145	D	0.000314	T	0.29061	0.0722	M	0.65498	2.005	0.58432	D	0.999997	D;D;D;P	0.63880	0.989;0.993;0.979;0.948	P;P;P;P	0.60886	0.836;0.88;0.714;0.628	T	0.01360	-1.1375	10	0.87932	D	0	-4.5879	15.4232	0.75031	0.0:0.0:0.0:1.0	.	2052;2527;531;1130	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	S	2527;1931;1931;2052;531	ENSP00000427550:I2527S;ENSP00000317156:I1931S;ENSP00000389190:I2052S	ENSP00000317156:I1931S	I	+	2	0	CEP192	13114735	1.000000	0.71417	0.521000	0.27850	0.774000	0.43823	5.871000	0.69628	2.121000	0.65114	0.454000	0.30748	ATT		0.348	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		7	34	0	0	0	0.001984	0	7	34				
CDH2	1000	broad.mit.edu	37	18	25570157	25570157	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr18:25570157G>C	ENST00000269141.3	-	10	1925	c.1502C>G	c.(1501-1503)cCt>cGt	p.P501R	CDH2_ENST00000399380.3_Missense_Mutation_p.P470R	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	501	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.P501R(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AATGATCTTAGGATTGGGGGC	0.453																																							uc002kwg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(1501-1503)CCT>CGT		cadherin 2, type 1 preproprotein							147.0	134.0	138.0					18																	25570157		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25570157G>C	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1502C>G	18.37:g.25570157G>C	ENSP00000269141:p.Pro501Arg					CDH2_uc010xbn.1_Missense_Mutation_p.P470R	p.P501R	NM_001792	NP_001783	P19022	CADH2_HUMAN			10	1961	-			501			Extracellular (Potential).|Cadherin 4.		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.1502C>G	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210237	0.58343	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.61040	0.14;0.14	6.16	6.16	0.99307	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	L	0.35793	1.09	0.80722	D	1	B;P	0.42039	0.019;0.769	B;B	0.30855	0.008;0.121	T	0.39881	-0.9592	10	0.24483	T	0.36	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	470;501	A8MWK3;P19022	.;CADH2_HUMAN	R	501;470	ENSP00000269141:P501R;ENSP00000382312:P470R	ENSP00000269141:P501R	P	-	2	0	CDH2	23824155	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.476000	0.97823	2.937000	0.99478	0.650000	0.86243	CCT		0.453	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		23	105	0	0	0	0.00333	0	23	105				
SETBP1	26040	broad.mit.edu	37	18	42530624	42530624	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr18:42530624G>T	ENST00000282030.5	+	4	1615	c.1319G>T	c.(1318-1320)gGa>gTa	p.G440V		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	440						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G440V(1)|p.G386V(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TTGGCTTCTGGAATCACCATG	0.443									Schinzel-Giedion syndrome																														uc010dni.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(1318-1320)GGA>GTA		SET binding protein 1 isoform a							85.0	88.0	87.0					18																	42530624		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530624G>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1319G>T	18.37:g.42530624G>T	ENSP00000282030:p.Gly440Val						p.G440V	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1615	+			440					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.1319G>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	8.291	0.817694	0.16607	.	.	ENSG00000152217	ENST00000282030	T	0.69175	-0.38	6.08	6.08	0.98989	.	0.058557	0.64402	D	0.000002	T	0.57784	0.2077	L	0.29908	0.895	0.54753	D	0.999985	B	0.15141	0.012	B	0.16289	0.015	T	0.51148	-0.8742	10	0.46703	T	0.11	.	16.8682	0.86034	0.0:0.0:0.8712:0.1288	.	440	Q9Y6X0	SETBP_HUMAN	V	440	ENSP00000282030:G440V	ENSP00000282030:G440V	G	+	2	0	SETBP1	40784622	1.000000	0.71417	0.978000	0.43139	0.084000	0.17831	3.044000	0.49830	2.894000	0.99253	0.655000	0.94253	GGA		0.443	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		18	93	1	0	1.33834e-09	0.007413	1.77281e-09	18	93				
VPS4B	9525	broad.mit.edu	37	18	61058216	61058216	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr18:61058216C>T	ENST00000238497.5	-	11	1530	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K		NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	443					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)	p.E443K(1)		breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						GCTTAGCCTTCTTGACCAAAA	0.343																																							uc002lix.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1327-1329)GAA>AAA		vacuolar protein sorting factor 4B							142.0	136.0	138.0					18																	61058216		2202	4300	6502	SO:0001583	missense	9525				cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	g.chr18:61058216C>T	AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.1327G>A	18.37:g.61058216C>T	ENSP00000238497:p.Glu443Lys						p.E443K	NM_004869	NP_004860	O75351	VPS4B_HUMAN			11	1587	-			443					Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	37	c.1327G>A	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	C	36	5.650765	0.96714	.	.	ENSG00000119541	ENST00000238497	D	0.94687	-3.49	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.97151	0.9069	M	0.91818	3.245	0.80722	D	1	D	0.54964	0.969	P	0.52159	0.691	D	0.97220	0.9877	10	0.62326	D	0.03	-33.7358	20.422	0.99049	0.0:1.0:0.0:0.0	.	443	O75351	VPS4B_HUMAN	K	443	ENSP00000238497:E443K	ENSP00000238497:E443K	E	-	1	0	VPS4B	59209196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.832000	0.97577	0.655000	0.94253	GAA		0.343	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869		6	36	0	0	0	0.001984	0	6	36				
KHSRP	8570	broad.mit.edu	37	19	6422415	6422415	+	Silent	SNP	C	C	T	rs539731278		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:6422415C>T	ENST00000398148.3	-	2	374	c.282G>A	c.(280-282)acG>acA	p.T94T		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	94	Gly-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.T94T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TATTCACTGTCGTGGCAGCAT	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		20148	0.0		0.0	False		,,,				2504	0.001				Colon(55;593 1006 2067 9135 22980)	Colon(55;593 1006 2067 9135 22980)	uc002mer.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(280-282)ACG>ACA		KH-type splicing regulatory protein							108.0	111.0	110.0					19																	6422415		1902	4118	6020	SO:0001819	synonymous_variant	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6422415C>T	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.282G>A	19.37:g.6422415C>T							p.T94T	NM_003685	NP_003676	Q92945	FUBP2_HUMAN			2	392	-			94			Gly-rich.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Silent	SNP	ENST00000398148.3	37	c.282G>A	CCDS45936.1																																																																																				0.473	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			23	90	0	0	0	0.003954	0	23	90				
MUC16	94025	broad.mit.edu	37	19	9065535	9065535	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:9065535G>T	ENST00000397910.4	-	3	22114	c.21911C>A	c.(21910-21912)tCc>tAc	p.S7304Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7306	Ser-rich.|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)		p.S7304Y(2)|p.S2937Y(1)		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						TCTTGTGGTGGATATTTCTGG	0.463																																							uc002mkp.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(21910-21912)TCC>TAC		mucin 16							148.0	141.0	143.0					19																	9065535		1932	4123	6055	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065535G>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.21911C>A	19.37:g.9065535G>T	ENSP00000381008:p.Ser7304Tyr						p.S7304Y	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	22115	-			7306			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.21911C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	7.159	0.585244	0.13749	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	2.85	2.85	0.33270	.	.	.	.	.	T	0.02230	0.0069	N	0.14661	0.345	.	.	.	P	0.40197	0.706	B	0.37888	0.26	T	0.33317	-0.9873	8	0.87932	D	0	.	9.3498	0.38131	0.0:0.0:1.0:0.0	.	7304	B5ME49	.	Y	7304	ENSP00000381008:S7304Y	ENSP00000381008:S7304Y	S	-	2	0	MUC16	8926535	0.000000	0.05858	0.002000	0.10522	0.070000	0.16714	-0.358000	0.07641	1.899000	0.54978	0.174000	0.16983	TCC		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		19	60	1	0	5.03518e-11	0.007413	6.78784e-11	19	60				
KEAP1	9817	broad.mit.edu	37	19	10600447	10600447	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:10600447G>T	ENST00000171111.5	-	4	1955	c.1408C>A	c.(1408-1410)Cgt>Agt	p.R470S	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'Flank|KEAP1_ENST00000393623.2_Missense_Mutation_p.R470S	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	470					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.R470C(3)|p.R470S(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	TAAAGGAGACGATTGAGGACA	0.557																																							uc002moq.1		NA																	4	Substitution - Missense(4)		lung(4)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1408-1410)CGT>AGT		kelch-like ECH-associated protein 1							74.0	61.0	65.0					19																	10600447		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10600447G>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1408C>A	19.37:g.10600447G>T	ENSP00000171111:p.Arg470Ser					KEAP1_uc002mop.1_Missense_Mutation_p.R188S|KEAP1_uc002mor.1_Missense_Mutation_p.R470S	p.R470S	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		4	1564	-			470			Kelch 3.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1408C>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472365	0.26423	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.77098	-1.07;-1.07	5.79	5.79	0.91817	Kelch-type beta propeller (1);	0.055235	0.64402	D	0.000001	T	0.80341	0.4605	L	0.33792	1.035	0.54753	D	0.999984	D	0.63046	0.992	D	0.64042	0.921	T	0.80188	-0.1486	10	0.51188	T	0.08	.	12.5198	0.56052	0.0:0.0:0.8334:0.1666	.	470	Q14145	KEAP1_HUMAN	S	470	ENSP00000171111:R470S;ENSP00000377245:R470S	ENSP00000171111:R470S	R	-	1	0	KEAP1	10461447	1.000000	0.71417	0.997000	0.53966	0.153000	0.21895	1.138000	0.31491	2.752000	0.94435	0.558000	0.71614	CGT		0.557	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		11	37	1	0	0.000673444	0.008291	0.000747	11	37				
MAST1	22983	broad.mit.edu	37	19	12975954	12975954	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:12975954C>G	ENST00000251472.4	+	14	1639	c.1600C>G	c.(1600-1602)Cac>Gac	p.H534D		NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.H534D(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ATATGAAGGCCACATCGAGAA	0.577																																							uc002mvm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(1600-1602)CAC>GAC		microtubule associated serine/threonine kinase							102.0	90.0	94.0					19																	12975954		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12975954C>G	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1600C>G	19.37:g.12975954C>G	ENSP00000251472:p.His534Asp						p.H534D	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			14	1728	+			534			Protein kinase.			Missense_Mutation	SNP	ENST00000251472.4	37	c.1600C>G	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.020558	0.75275	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.22945	1.93	4.78	4.78	0.61160	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	L	0.29908	0.895	0.58432	D	0.999998	D	0.64830	0.994	D	0.71184	0.972	T	0.28267	-1.0049	10	0.87932	D	0	-37.2494	15.6856	0.77409	0.0:1.0:0.0:0.0	.	534	Q9Y2H9	MAST1_HUMAN	D	534	ENSP00000251472:H534D	ENSP00000251472:H534D	H	+	1	0	MAST1	12836954	1.000000	0.71417	0.999000	0.59377	0.727000	0.41649	7.818000	0.86416	2.396000	0.81511	0.561000	0.74099	CAC		0.577	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		17	49	0	0	0	0.006122	0	17	49				
HAPLN4	404037	broad.mit.edu	37	19	19368865	19368865	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:19368865C>A	ENST00000291481.7	-	5	1033	c.970G>T	c.(970-972)Gcc>Tcc	p.A324S	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	324	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.A324S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CTGCCATCGGCCAGCCAACCC	0.746																																							uc002nmb.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(970-972)GCC>TCC		hyaluronan and proteoglycan link protein 4							4.0	5.0	5.0					19																	19368865		1983	3962	5945	SO:0001583	missense	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19368865C>A	AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.970G>T	19.37:g.19368865C>A	ENSP00000291481:p.Ala324Ser					HAPLN4_uc002nmc.2_Missense_Mutation_p.A324S	p.A324S	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		5	1025	-			324			Link 2.		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	c.970G>T	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262484	0.80358	.	.	ENSG00000187664	ENST00000291481	T	0.09445	2.98	3.85	3.85	0.44370	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.299368	0.30142	N	0.010317	T	0.18045	0.0433	L	0.45470	1.425	0.43462	D	0.995669	P	0.47106	0.89	P	0.51055	0.657	T	0.01401	-1.1364	10	0.49607	T	0.09	-10.8277	14.4777	0.67559	0.0:1.0:0.0:0.0	.	324	Q86UW8	HPLN4_HUMAN	S	324	ENSP00000291481:A324S	ENSP00000291481:A324S	A	-	1	0	HAPLN4	19229865	1.000000	0.71417	0.995000	0.50966	0.631000	0.37964	4.327000	0.59247	1.972000	0.57404	0.313000	0.20887	GCC		0.746	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		4	9	1	0	4.096e-09	0.001168	5.36353e-09	4	9				
HAPLN4	404037	broad.mit.edu	37	19	19369648	19369648	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:19369648G>A	ENST00000291481.7	-	4	564	c.501C>T	c.(499-501)taC>taT	p.Y167Y	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	167	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.Y167Y(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CACGGGGGTGGTAGGGAAAGA	0.667																																							uc002nmb.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(499-501)TAC>TAT		hyaluronan and proteoglycan link protein 4							7.0	7.0	7.0					19																	19369648		2093	4108	6201	SO:0001819	synonymous_variant	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19369648G>A	AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.501C>T	19.37:g.19369648G>A						HAPLN4_uc002nmc.2_Silent_p.Y167Y	p.Y167Y	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		4	556	-			167			Link 1.		A5PKW5|Q96PW2	Silent	SNP	ENST00000291481.7	37	c.501C>T	CCDS12398.1																																																																																				0.667	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		4	10	0	0	0	0.000602	0	4	10				
ATP4A	495	broad.mit.edu	37	19	36051326	36051326	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:36051326G>T	ENST00000262623.3	-	6	754	c.726C>A	c.(724-726)tgC>tgA	p.C242*		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	242					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.C242*(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TCTCGTGCGTGCACTCGGGTG	0.657																																							uc002oal.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(724-726)TGC>TGA		hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						84.0	84.0	84.0					19																	36051326		2203	4300	6503	SO:0001587	stop_gained	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36051326G>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.726C>A	19.37:g.36051326G>T	ENSP00000262623:p.Cys242*					ATP4A_uc010eee.1_5'Flank	p.C242*	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		6	755	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		242			Cytoplasmic (Potential).		O00738	Nonsense_Mutation	SNP	ENST00000262623.3	37	c.726C>A	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	g	15.90	2.970728	0.53614	.	.	ENSG00000105675	ENST00000262623	.	.	.	4.16	-1.08	0.09936	.	0.072890	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	8.0839	0.30760	0.6343:0.0:0.3657:0.0	.	.	.	.	X	242	.	ENSP00000262623:C242X	C	-	3	2	ATP4A	40743166	0.995000	0.38212	0.920000	0.36463	0.155000	0.21991	0.394000	0.20834	-0.217000	0.10033	-0.348000	0.07805	TGC		0.657	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		13	100	1	0	2.27111e-07	0.001368	2.85922e-07	13	100				
DLL3	10683	broad.mit.edu	37	19	39996085	39996085	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:39996085C>T	ENST00000205143.4	+	6	1094	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	DLL3_ENST00000356433.5_Missense_Mutation_p.R363C	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	363	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)	p.R363C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCAGCCATGCCGCAATGGTGA	0.617																																							uc002olx.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|breast(1)	3						c.(1087-1089)CGC>TGC		delta-like 3 protein isoform 1 precursor							55.0	58.0	57.0					19																	39996085		2203	4300	6503	SO:0001583	missense	10683				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding	g.chr19:39996085C>T	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.1087C>T	19.37:g.39996085C>T	ENSP00000205143:p.Arg363Cys					DLL3_uc010egq.2_Missense_Mutation_p.R363C|DLL3_uc002olw.2_Missense_Mutation_p.R363C	p.R363C	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		6	1145	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		363			EGF-like 4.|Extracellular (Potential).		E9PFG2|Q8NBS4	Missense_Mutation	SNP	ENST00000205143.4	37	c.1087C>T	CCDS12538.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070700	0.55539	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	D;D	0.87412	-2.25;-2.25	4.99	4.99	0.66335	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.206931	0.23847	N	0.043999	D	0.88883	0.6558	L	0.45581	1.43	0.18873	N	0.999981	D;D;D	0.76494	0.999;0.998;0.985	P;P;P	0.60609	0.877;0.828;0.761	T	0.81484	-0.0912	9	.	.	.	.	11.3424	0.49541	0.0:0.9113:0.0:0.0887	.	363;363;363	Q8NBS4;Q9NYJ7;E9PFG2	.;DLL3_HUMAN;.	C	363	ENSP00000348810:R363C;ENSP00000205143:R363C	.	R	+	1	0	DLL3	44687925	0.008000	0.16893	0.705000	0.30386	0.848000	0.48234	0.410000	0.21098	2.299000	0.77371	0.561000	0.74099	CGC		0.617	DLL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464958.1			12	83	0	0	0	0.001368	0	12	83				
PSG8	440533	broad.mit.edu	37	19	43262225	43262225	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:43262225C>G	ENST00000306511.4	-	3	735	c.638G>C	c.(637-639)gGa>gCa	p.G213A	PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.G91A|PSG8_ENST00000404209.4_Missense_Mutation_p.G213A|PSG8_ENST00000600709.1_5'UTR	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	213	Ig-like C2-type 1.					extracellular region (GO:0005576)		p.G213A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCATAGGGTCCTGCAGTGTA	0.502																																							uc002ouo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(637-639)GGA>GCA		pregnancy specific beta-1-glycoprotein 8 isoform							241.0	250.0	247.0					19																	43262225		2203	4299	6502	SO:0001583	missense	440533					extracellular region		g.chr19:43262225C>G	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.638G>C	19.37:g.43262225C>G	ENSP00000305005:p.Gly213Ala					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.G52A|PSG8_uc002ouh.2_Missense_Mutation_p.G213A|PSG8_uc010ein.2_Missense_Mutation_p.G91A|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Missense_Mutation_p.G52A|PSG8_uc002oul.3_Missense_Mutation_p.G213A|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron	p.G213A	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN			3	736	-		Prostate(69;0.00899)	213			Ig-like C2-type 1.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.638G>C	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	c	12.46	1.943910	0.34283	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000426252;ENST00000306511	T;T;T	0.28895	1.59;1.59;1.59	1.53	1.53	0.23141	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59891	0.2227	M	0.93594	3.435	0.21256	N	0.999749	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.44513	-0.9323	9	0.59425	D	0.04	.	6.4485	0.21890	0.0:1.0:0.0:0.0	.	91;213;213;213	Q9UQ74-2;Q9UQ74;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.	A	213;88;91;25;213	ENSP00000385869:G213A;ENSP00000385081:G91A;ENSP00000305005:G213A	ENSP00000292109:G88A	G	-	2	0	PSG8	47954065	0.089000	0.21612	0.101000	0.21167	0.024000	0.10985	1.915000	0.39976	0.835000	0.34877	0.298000	0.19748	GGA		0.502	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			67	396	0	0	0	0.00361	0	67	396				
PSG6	5675	broad.mit.edu	37	19	43421920	43421920	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:43421920A>G	ENST00000292125.2	-	1	69	c.25T>C	c.(25-27)Tgc>Cgc	p.C9R	PSG6_ENST00000402603.4_Missense_Mutation_p.C9R|PSG6_ENST00000187910.2_Missense_Mutation_p.C9R|PSG6_ENST00000601833.1_Intron	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	9					female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.C9R(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TGCTGAGTGCAGGGAGGGGCT	0.597																																							uc002ovj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(25-27)TGC>CGC		pregnancy specific beta-1-glycoprotein 6 isoform							137.0	119.0	125.0					19																	43421920		2201	4300	6501	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43421920A>G		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.25T>C	19.37:g.43421920A>G	ENSP00000292125:p.Cys9Arg					PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ovf.1_Missense_Mutation_p.C9R|PSG6_uc002ovg.1_Missense_Mutation_p.C9R	p.C9R	NM_002782	NP_002773	Q00889	PSG6_HUMAN			1	77	-		Prostate(69;0.00899)	9					O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.25T>C	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	a	0.599	-0.829864	0.02734	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.28454	1.61;1.94;1.63	1.47	-1.51	0.08664	.	.	.	.	.	T	0.34978	0.0916	M	0.64260	1.97	0.09310	N	1	B;P;P	0.44877	0.009;0.845;0.76	B;P;P	0.54401	0.011;0.751;0.463	T	0.25847	-1.0120	9	0.23891	T	0.37	.	1.9341	0.03333	0.2274:0.0:0.461:0.3116	.	9;9;9	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	R	9	ENSP00000187910:C9R;ENSP00000385736:C9R;ENSP00000292125:C9R	ENSP00000187910:C9R	C	-	1	0	PSG6	48113760	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.366000	0.02585	-0.237000	0.09739	0.163000	0.16589	TGC		0.597	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		17	129	0	0	0	0.00499	0	17	129				
PSG2	5670	broad.mit.edu	37	19	43576027	43576027	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:43576027C>A	ENST00000406487.1	-	4	887	c.789G>T	c.(787-789)gcG>gcT	p.A263A		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	263	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.A263A(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGTTAGAGTTCGCGAAGCAAG	0.443																																							uc002ovr.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(787-789)GCG>GCT		pregnancy specific beta-1-glycoprotein 2							184.0	193.0	190.0					19																	43576027		2202	4299	6501	SO:0001819	synonymous_variant	5670				cell migration|female pregnancy	extracellular region		g.chr19:43576027C>A		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.789G>T	19.37:g.43576027C>A						PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.A263A|PSG2_uc010eiq.1_Silent_p.A263A|PSG2_uc002ovs.3_Silent_p.A263A|PSG2_uc002ovt.3_Silent_p.A263A	p.A263A	NM_031246	NP_112536	P11465	PSG2_HUMAN			4	882	-		Prostate(69;0.00682)	263			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Silent	SNP	ENST00000406487.1	37	c.789G>T	CCDS12616.1																																																																																				0.443	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		50	289	1	0	1.56793e-16	0.00361	2.27474e-16	50	289				
SIGLEC7	27036	broad.mit.edu	37	19	51645668	51645668	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:51645668G>C	ENST00000317643.6	+	1	111	c.42G>C	c.(40-42)gaG>gaC	p.E14D	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.E14D|SIGLEC7_ENST00000600577.1_Missense_Mutation_p.E14D	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	14					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.E14D(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGGGGAGGGAGAGGGTGGAAG	0.602																																							uc002pvv.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(40-42)GAG>GAC		sialic acid binding Ig-like lectin 7 isoform 1							68.0	46.0	54.0					19																	51645668		2203	4300	6503	SO:0001583	missense	27036				cell adhesion	integral to plasma membrane	receptor activity|sugar binding	g.chr19:51645668G>C	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895	ENST00000317643.6:c.42G>C	19.37:g.51645668G>C	ENSP00000323328:p.Glu14Asp					SIGLEC7_uc002pvw.1_Missense_Mutation_p.E14D|SIGLEC7_uc010eoq.1_RNA|SIGLEC7_uc010eor.1_Missense_Mutation_p.E14D	p.E14D	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)	1	111	+		all_neural(266;0.0199)	14					Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	Missense_Mutation	SNP	ENST00000317643.6	37	c.42G>C	CCDS12826.1	.	.	.	.	.	.	.	.	.	.	.	11.71	1.718684	0.30503	.	.	ENSG00000168995	ENST00000317643;ENST00000305628;ENST00000536156	T;T;T	0.16324	2.51;2.35;3.84	2.39	1.26	0.21427	.	.	.	.	.	T	0.17874	0.0429	L	0.53249	1.67	0.09310	N	1	P;P;B	0.50819	0.939;0.833;0.024	P;B;B	0.46076	0.503;0.139;0.005	T	0.12502	-1.0545	9	0.34782	T	0.22	.	6.1472	0.20293	0.0:0.0:0.698:0.302	.	14;14;14	Q9Y286-4;Q9Y286-2;Q9Y286	.;.;SIGL7_HUMAN	D	14	ENSP00000323328:E14D;ENSP00000306757:E14D;ENSP00000437609:E14D	ENSP00000306757:E14D	E	+	3	2	SIGLEC7	56337480	0.000000	0.05858	0.005000	0.12908	0.061000	0.15899	-0.178000	0.09782	0.309000	0.22966	0.398000	0.26397	GAG		0.602	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		3	27	0	0	0	0.004672	0	3	27				
ZNF613	79898	broad.mit.edu	37	19	52447376	52447376	+	Missense_Mutation	SNP	C	C	G	rs370892159		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:52447376C>G	ENST00000293471.6	+	6	919	c.240C>G	c.(238-240)atC>atG	p.I80M	ZNF613_ENST00000391794.4_Missense_Mutation_p.I44M	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	80					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I80M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		TCCTAGAAATCAAGAAAGTTG	0.368																																							uc002pxz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(238-240)ATC>ATG		zinc finger protein 613 isoform 1		C	MET/ILE,MET/ILE	0,4404		0,0,2202	37.0	34.0	35.0		132,240	-0.3	0.8	19		35	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	ZNF613	NM_024840.3,NM_001031721.3	10,10	0,1,6497	GG,GC,CC		0.0116,0.0,0.0077	benign,benign	44/582,80/618	52447376	1,12995	2202	4296	6498	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52447376C>G	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.240C>G	19.37:g.52447376C>G	ENSP00000293471:p.Ile80Met					ZNF613_uc002pya.1_Missense_Mutation_p.I44M	p.I80M	NM_001031721	NP_001026891	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	663	+		all_neural(266;0.117)	80					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.240C>G	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	C	3.059	-0.193604	0.06259	0.0	1.16E-4	ENSG00000176024	ENST00000293471;ENST00000391794	T;T	0.06294	3.41;3.32	3.35	-0.315	0.12746	.	0.433550	0.17174	N	0.184162	T	0.03608	0.0103	N	0.20685	0.6	0.21822	N	0.999523	B	0.11235	0.004	B	0.09377	0.004	T	0.37314	-0.9711	10	0.44086	T	0.13	.	4.662	0.12646	0.0:0.403:0.3757:0.2214	.	80	Q6PF04	ZN613_HUMAN	M	80;44	ENSP00000293471:I80M;ENSP00000375671:I44M	ENSP00000293471:I80M	I	+	3	3	ZNF613	57139188	0.000000	0.05858	0.785000	0.31869	0.270000	0.26580	-0.318000	0.08050	-0.073000	0.12842	0.650000	0.86243	ATC		0.368	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		5	20	0	0	0	0.001168	0	5	20				
PTPRH	5794	broad.mit.edu	37	19	55711859	55711859	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:55711859C>A	ENST00000376350.3	-	7	1187	c.1165G>T	c.(1165-1167)Gtg>Ttg	p.V389L	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.V211L	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	389	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.V389L(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGGTTTCTCACTGGGTTGGGG	0.547																																							uc002qjq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1165-1167)GTG>TTG		protein tyrosine phosphatase, receptor type, H							78.0	73.0	75.0					19																	55711859		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55711859C>A		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1165G>T	19.37:g.55711859C>A	ENSP00000365528:p.Val389Leu					PTPRH_uc010esv.2_Missense_Mutation_p.V211L|PTPRH_uc002qjs.2_Missense_Mutation_p.V396L	p.V389L	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	7	1238	-		Renal(1328;0.245)	389			Extracellular (Potential).|Fibronectin type-III 5.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.1165G>T	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.764304	0.49574	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.58940	0.3;0.3	3.85	0.422	0.16457	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.302632	0.18167	N	0.149598	T	0.69691	0.3139	M	0.85859	2.78	0.09310	N	1	D;D;D	0.60575	0.975;0.969;0.988	P;P;D	0.62955	0.822;0.728;0.909	T	0.58411	-0.7641	10	0.35671	T	0.21	.	6.5614	0.22489	0.0:0.6643:0.0:0.3357	.	211;211;389	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	L	389;211	ENSP00000365528:V389L;ENSP00000263434:V211L	ENSP00000263434:V211L	V	-	1	0	PTPRH	60403671	0.000000	0.05858	0.002000	0.10522	0.081000	0.17604	-0.010000	0.12743	0.081000	0.16988	0.543000	0.68304	GTG		0.547	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			14	69	1	0	7.93312e-07	0.00245	9.64212e-07	14	69				
NLRP4	147945	broad.mit.edu	37	19	56370564	56370564	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:56370564T>A	ENST00000301295.6	+	3	2227	c.1805T>A	c.(1804-1806)cTc>cAc	p.L602H	NLRP4_ENST00000587891.1_Missense_Mutation_p.L527H|NLRP4_ENST00000346986.5_Missense_Mutation_p.L602H	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	602					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.L602H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTGAGGAAACTCTGTTTTTCC	0.408																																							uc002qmd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1804-1806)CTC>CAC		NLR family, pyrin domain containing 4							71.0	66.0	68.0					19																	56370564		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56370564T>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1805T>A	19.37:g.56370564T>A	ENSP00000301295:p.Leu602His					NLRP4_uc002qmf.2_Missense_Mutation_p.L527H|NLRP4_uc010etf.2_Missense_Mutation_p.L433H	p.L602H	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	2227	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	602					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1805T>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.586031	0.46110	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.72835	-0.69;-0.69	3.23	3.23	0.37069	.	.	.	.	.	T	0.80330	0.4603	M	0.67397	2.05	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.985	T	0.66763	-0.5841	9	0.87932	D	0	.	8.2152	0.31507	0.0:0.0:0.0:1.0	.	602;527;602	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	H	602	ENSP00000301295:L602H;ENSP00000344787:L602H	ENSP00000301295:L602H	L	+	2	0	NLRP4	61062376	0.155000	0.22806	0.004000	0.12327	0.006000	0.05464	1.917000	0.39996	1.716000	0.51395	0.482000	0.46254	CTC		0.408	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		15	65	0	0	0	0.004007	0	15	65				
ZIM3	114026	broad.mit.edu	37	19	57646704	57646704	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:57646704G>T	ENST00000269834.1	-	5	1386	c.1001C>A	c.(1000-1002)cCc>cAc	p.P334H	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P334H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACATTTATAGGGTTTCTCTCC	0.413																																							uc002qnz.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1000-1002)CCC>CAC		zinc finger, imprinted 3							162.0	157.0	158.0					19																	57646704		2203	4300	6503	SO:0001583	missense	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646704G>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1001C>A	19.37:g.57646704G>T	ENSP00000269834:p.Pro334His						p.P334H	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1387	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	334					Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.1001C>A	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933399	0.52866	.	.	ENSG00000141946	ENST00000269834	T	0.17528	2.27	2.53	2.53	0.30540	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37210	0.0995	M	0.93462	3.42	0.34500	D	0.705979	P	0.40211	0.707	P	0.45881	0.496	T	0.61397	-0.7071	9	0.87932	D	0	.	10.7601	0.46259	0.0:0.0:1.0:0.0	.	334	Q96PE6	ZIM3_HUMAN	H	334	ENSP00000269834:P334H	ENSP00000269834:P334H	P	-	2	0	ZIM3	62338516	1.000000	0.71417	0.499000	0.27577	0.652000	0.38707	4.739000	0.62080	1.400000	0.46741	0.313000	0.20887	CCC		0.413	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			27	119	1	0	1.77063e-15	0.005443	2.53661e-15	27	119				
SULT6B1	391365	broad.mit.edu	37	2	37406698	37406698	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:37406698A>T	ENST00000535679.1	-	4	431	c.432T>A	c.(430-432)gaT>gaA	p.D144E	SULT6B1_ENST00000260637.3_Missense_Mutation_p.D106E|SULT6B1_ENST00000379149.2_Intron|SULT6B1_ENST00000407963.1_Missense_Mutation_p.D106E			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	144						cytoplasm (GO:0005737)	sulfotransferase activity (GO:0008146)	p.D106E(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				ATACTGCTGTATCTTTAGGGT	0.363																																							uc002rpu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(316-318)GAT>GAA		sulfotransferase family, cytosolic, 6B, member							120.0	117.0	118.0					2																	37406698		2203	4300	6503	SO:0001583	missense	391365					cytoplasm	sulfotransferase activity	g.chr2:37406698A>T	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.432T>A	2.37:g.37406698A>T	ENSP00000444081:p.Asp144Glu					SULT6B1_uc010yni.1_RNA	p.D106E	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN			4	339	-		all_hematologic(82;0.248)	144			PAPS (By similarity).		B2RTS7	Missense_Mutation	SNP	ENST00000535679.1	37	c.318T>A		.	.	.	.	.	.	.	.	.	.	A	18.37	3.609760	0.66558	.	.	ENSG00000138068	ENST00000535679;ENST00000260637;ENST00000407963	T;T;T	0.22743	1.94;1.94;1.94	4.27	0.391	0.16282	Sulfotransferase domain (1);	0.054248	0.64402	D	0.000001	T	0.58495	0.2126	H	0.98965	4.385	0.46203	D	0.998923	D	0.89917	1.0	D	0.97110	1.0	T	0.64170	-0.6470	10	0.87932	D	0	.	8.6597	0.34084	0.4602:0.0:0.5398:0.0	.	144	Q6IMI4	ST6B1_HUMAN	E	144;106;106	ENSP00000444081:D144E;ENSP00000260637:D106E;ENSP00000384950:D106E	ENSP00000260637:D106E	D	-	3	2	SULT6B1	37260202	1.000000	0.71417	0.971000	0.41717	0.911000	0.54048	1.209000	0.32357	-0.014000	0.14175	0.459000	0.35465	GAT		0.363	SULT6B1-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001032377		24	75	0	0	0	0.009535	0	24	75				
NRXN1	9378	broad.mit.edu	37	2	50850703	50850703	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:50850703C>A	ENST00000406316.2	-	6	2359	c.883G>T	c.(883-885)Gac>Tac	p.D295Y	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.D295Y|NRXN1_ENST00000402717.3_Missense_Mutation_p.D295Y|NRXN1_ENST00000405472.3_Missense_Mutation_p.D295Y|NRXN1_ENST00000406859.3_Missense_Mutation_p.D295Y|NRXN1_ENST00000404971.1_Missense_Mutation_p.D328Y	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	295	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)	p.D329Y(1)|p.D295Y(1)|p.D328Y(1)		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)			TGAGACAAGTCGTAGCAGAAG	0.383																																							uc010fbq.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(982-984)GAC>TAC		neurexin 1 isoform alpha2 precursor							125.0	116.0	119.0					2																	50850703		1869	4093	5962	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.chr2:50850703C>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.883G>T	2.37:g.50850703C>A	ENSP00000384311:p.Asp295Tyr					NRXN1_uc002rxb.3_5'UTR|NRXN1_uc002rxe.3_Missense_Mutation_p.D295Y|NRXN1_uc002rxc.1_RNA	p.D328Y	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	2459	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.982G>T	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126531	0.77549	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.16;-1.35;-1.16;-1.35	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.90065	0.6897	M	0.77486	2.375	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89940	0.4072	10	0.54805	T	0.06	.	19.2231	0.93806	0.0:1.0:0.0:0.0	.	328;295	Q9ULB1-3;F8WB18	.;.	Y	328;295;295;295;329;295;295	ENSP00000385142:D328Y;ENSP00000384311:D295Y;ENSP00000434015:D295Y;ENSP00000385017:D295Y;ENSP00000385434:D295Y;ENSP00000385681:D295Y	ENSP00000385017:D295Y	D	-	1	0	NRXN1	50704207	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.776000	0.95493	0.650000	0.86243	GAC		0.383	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			25	89	1	0	2.98393e-07	0.00278	3.74631e-07	25	89				
ERLEC1	27248	broad.mit.edu	37	2	54045061	54045061	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:54045061C>A	ENST00000185150.4	+	14	1538	c.1407C>A	c.(1405-1407)atC>atA	p.I469I	ASB3_ENST00000406625.2_Intron|ERLEC1_ENST00000378239.5_Silent_p.I415I|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000405123.3_Silent_p.I443I|ASB3_ENST00000498475.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	469					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)	p.I469I(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TCTGTAAAATCTTAGATACAG	0.333																																							uc002rxl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1405-1407)ATC>ATA		erlectin isoform 1							137.0	136.0	136.0					2																	54045061		2203	4299	6502	SO:0001819	synonymous_variant	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54045061C>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.1407C>A	2.37:g.54045061C>A						ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Silent_p.I443I|ERLEC1_uc002rxn.2_Silent_p.I415I	p.I469I	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN			14	1687	+			469					B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Silent	SNP	ENST00000185150.4	37	c.1407C>A	CCDS1848.1																																																																																				0.333	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		21	116	1	0	5.35047e-06	0.00333	6.35108e-06	21	116				
PNPT1	87178	broad.mit.edu	37	2	55874526	55874526	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:55874526C>A	ENST00000447944.2	-	19	1644	c.1558G>T	c.(1558-1560)Gag>Tag	p.E520*		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	520					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)	p.E520*(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCACCCTTCTCAGGATCGGTT	0.348																																							uc002rzf.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1558-1560)GAG>TAG		polyribonucleotide nucleotidyltransferase 1							89.0	92.0	91.0					2																	55874526		2203	4300	6503	SO:0001587	stop_gained	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55874526C>A	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1558G>T	2.37:g.55874526C>A	ENSP00000400646:p.Glu520*					PNPT1_uc002rzg.2_RNA	p.E520*	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		19	1611	-			520					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Nonsense_Mutation	SNP	ENST00000447944.2	37	c.1558G>T	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	C	37	6.050059	0.97236	.	.	ENSG00000138035	ENST00000447944	.	.	.	5.63	4.74	0.60224	.	0.350840	0.31760	N	0.007117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-3.6951	15.4781	0.75501	0.0:0.9302:0.0:0.0698	.	.	.	.	X	520	.	ENSP00000386075:E520X	E	-	1	0	PNPT1	55728030	0.997000	0.39634	0.990000	0.47175	0.920000	0.55202	2.365000	0.44196	2.802000	0.96397	0.563000	0.77884	GAG		0.348	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109		18	70	1	0	9.95505e-16	0.002299	1.43516e-15	18	70				
WDPCP	51057	broad.mit.edu	37	2	63849695	63849695	+	IGR	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:63849695G>T								MDH1 (15364 upstream) : RPS4XP5 (19893 downstream)																							GTCATGGTCTGATTCTGTGGG	0.527																																							uc002sck.1		NA																	0					0						c.(271-273)CAG>AAG		SubName: Full=Px19-like protein, isoform CRA_c; SubName: Full=cDNA, FLJ92457, Homo sapiens px19-like protein (PX19), mRNA;																																				SO:0001628	intergenic_variant	388955							g.chr2:63849695G>T																													2.37:g.63849695G>T							p.Q91K	NR_003131						1	465	-									Missense_Mutation	SNP		37	c.271C>A																																																																																				0	0.527									9	40	1	0	0.00448238	0.004482	0.00478609	9	40				
ALMS1	7840	broad.mit.edu	37	2	73680829	73680829	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:73680829C>T	ENST00000264448.6	+	8	7283	c.7172C>T	c.(7171-7173)cCt>cTt	p.P2391L	ALMS1_ENST00000377715.1_Missense_Mutation_p.P2391L|ALMS1_ENST00000409009.1_Missense_Mutation_p.P2349L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2391					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.P2391L(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGGTCTGAACCTGAAGGGTGT	0.403																																							uc002sje.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(7177-7179)CCT>CTT		Alstrom syndrome 1							95.0	89.0	91.0					2																	73680829		1883	4115	5998	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73680829C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7172C>T	2.37:g.73680829C>T	ENSP00000264448:p.Pro2391Leu					ALMS1_uc002sjf.1_Missense_Mutation_p.P2349L|ALMS1_uc002sjg.2_Missense_Mutation_p.P1779L|ALMS1_uc002sjh.1_Missense_Mutation_p.P1779L	p.P2393L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			10	7289	+			2391					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.7178C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.712234	0.68730	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.38240	2.14;2.14;1.15	5.92	5.02	0.67125	.	0.000000	0.50627	D	0.000117	T	0.51770	0.1694	L	0.48642	1.525	0.53005	D	0.99996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.50659	-0.8802	10	0.87932	D	0	.	12.6077	0.56532	0.1642:0.8358:0.0:0.0	.	2391;2349;2391	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	L	2349;2391;2391	ENSP00000386627:P2349L;ENSP00000264448:P2391L;ENSP00000366944:P2391L	ENSP00000264448:P2391L	P	+	2	0	ALMS1	73534337	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.908000	0.48750	2.809000	0.96659	0.655000	0.94253	CCT		0.403	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		18	64	0	0	0	0.00499	0	18	64				
LRRTM1	347730	broad.mit.edu	37	2	80529996	80529996	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:80529996C>A	ENST00000295057.3	-	2	1605	c.949G>T	c.(949-951)Gat>Tat	p.D317Y	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D317Y|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	317	LRRCT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.D317Y(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGCCCGCAATCCCACAGGTTC	0.632										HNSCC(69;0.2)																													uc002sok.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(949-951)GAT>TAT		leucine rich repeat transmembrane neuronal 1							43.0	41.0	42.0					2																	80529996		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80529996C>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.949G>T	2.37:g.80529996C>A	ENSP00000295057:p.Asp317Tyr	HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.D317Y	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	1219	-			317			LRRCT.|Lumenal (Potential).		A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.949G>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733494	0.69189	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.79653	-1.29;-1.29	5.26	5.26	0.73747	.	0.058468	0.64402	U	0.000003	D	0.84929	0.5581	L	0.60455	1.87	0.80722	D	1	D	0.57899	0.981	P	0.54174	0.744	D	0.84484	0.0607	9	.	.	.	.	18.8459	0.92205	0.0:1.0:0.0:0.0	.	317	Q86UE6	LRRT1_HUMAN	Y	317	ENSP00000295057:D317Y;ENSP00000386646:D317Y	.	D	-	1	0	LRRTM1	80383507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.056000	0.71111	2.416000	0.81992	0.655000	0.94253	GAT		0.632	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		7	33	1	0	0.00307968	0.00308	0.00330379	7	33				
NCAPH	23397	broad.mit.edu	37	2	97019094	97019094	+	Missense_Mutation	SNP	G	G	T	rs574125757		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:97019094G>T	ENST00000240423.4	+	8	1004	c.961G>T	c.(961-963)Ggg>Tgg	p.G321W	NCAPH_ENST00000455200.1_Missense_Mutation_p.G310W|NCAPH_ENST00000427946.1_Missense_Mutation_p.G185W	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	321					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)		p.G321W(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TTCCCTGGCCGGGTTCCAGTT	0.517																																							uc002svz.1		NA																	1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|skin(1)	2						c.(961-963)GGG>TGG		non-SMC condensin I complex, subunit H							123.0	104.0	110.0					2																	97019094		2203	4300	6503	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97019094G>T	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.961G>T	2.37:g.97019094G>T	ENSP00000240423:p.Gly321Trp					NCAPH_uc010fhu.1_Missense_Mutation_p.G297W|NCAPH_uc010fhv.1_Missense_Mutation_p.G310W|NCAPH_uc010yum.1_Missense_Mutation_p.G297W|NCAPH_uc010fhw.1_Missense_Mutation_p.G310W|NCAPH_uc010yun.1_Missense_Mutation_p.G185W|NCAPH_uc002swa.1_5'UTR	p.G321W	NM_015341	NP_056156	Q15003	CND2_HUMAN			8	1045	+		Ovarian(717;0.0221)	321					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.961G>T	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802142	0.70682	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000456906;ENST00000455200	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.76	4.89	0.63831	.	0.155036	0.56097	D	0.000025	T	0.67183	0.2866	M	0.76002	2.32	0.34283	D	0.68235	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.996;0.997	T	0.78725	-0.2092	10	0.66056	D	0.02	-19.1972	12.4029	0.55422	0.0811:0.0:0.9189:0.0	.	297;310;310;321	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	W	321;185;310;202;310	ENSP00000240423:G321W;ENSP00000400774:G185W;ENSP00000405237:G310W;ENSP00000401227:G202W;ENSP00000407308:G310W	ENSP00000240423:G321W	G	+	1	0	NCAPH	96382821	0.973000	0.33851	0.376000	0.26042	0.973000	0.67179	2.506000	0.45433	1.451000	0.47736	0.655000	0.94253	GGG		0.517	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		3	28	1	0	0.004672	0.004672	0.00496536	3	28				
ANKRD23	200539	broad.mit.edu	37	2	97509718	97509718	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:97509718G>A	ENST00000318357.4	-	1	53	c.12C>T	c.(10-12)atC>atT	p.I4I	ANKRD23_ENST00000476975.1_5'Flank|ANKRD23_ENST00000418232.1_Silent_p.I4I|ANKRD23_ENST00000331001.2_Silent_p.I4I	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	4					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)	p.I4I(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						GCTGAATGCTGATGAAGTCCA	0.602																																							uc002sxa.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(10-12)ATC>ATT		diabetes related ankyrin repeat protein							290.0	280.0	283.0					2																	97509718		2203	4300	6503	SO:0001819	synonymous_variant	200539					nucleus		g.chr2:97509718G>A		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"""Ankyrin repeat domain containing"""	24470	protein-coding gene	gene with protein product	"""diabetes related ankyrin repeat protein"""	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.12C>T	2.37:g.97509718G>A						ANKRD23_uc002sxb.2_RNA|ANKRD23_uc002sxc.2_Silent_p.I4I	p.I4I	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN			1	41	-			4					Q711K7|Q8NAJ7	Silent	SNP	ENST00000318357.4	37	c.12C>T	CCDS2027.1																																																																																				0.602	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		65	284	0	0	0	0.00361	0	65	284				
AMER3	205147	broad.mit.edu	37	2	131521473	131521473	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:131521473G>A	ENST00000423981.1	+	2	1938	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K	AMER3_ENST00000321420.4_Missense_Mutation_p.E610K	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	610					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.E610K(1)									AGGTCACTCTGAAGGCTTGTT	0.577																																							uc002trw.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1828-1830)GAA>AAA		hypothetical protein LOC205147							69.0	73.0	72.0					2																	131521473		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131521473G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1828G>A	2.37:g.131521473G>A	ENSP00000392700:p.Glu610Lys					FAM123C_uc010fmv.2_Missense_Mutation_p.E610K|FAM123C_uc010fms.1_Missense_Mutation_p.E610K|FAM123C_uc010fmt.1_Missense_Mutation_p.E610K|FAM123C_uc010fmu.1_Missense_Mutation_p.E610K	p.E610K	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	2018	+	Colorectal(110;0.1)		610					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1828G>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.995895	0.35226	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.49720	0.77;0.77	4.05	2.15	0.27550	.	1.780180	0.03365	N	0.198102	T	0.35653	0.0939	L	0.32530	0.975	0.09310	N	1	B	0.30068	0.267	B	0.22386	0.039	T	0.26780	-1.0093	10	0.44086	T	0.13	.	4.8183	0.13378	0.1203:0.2246:0.6551:0.0	.	610	Q8N944	F123C_HUMAN	K	610	ENSP00000314914:E610K;ENSP00000392700:E610K	ENSP00000314914:E610K	E	+	1	0	FAM123C	131237943	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.338000	0.19858	0.992000	0.38840	0.561000	0.74099	GAA		0.577	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		13	81	0	0	0	0.004007	0	13	81				
MGAT5	4249	broad.mit.edu	37	2	135119848	135119848	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:135119848C>A	ENST00000409645.1	+	11	1501	c.1249C>A	c.(1249-1251)Cat>Aat	p.H417N	MGAT5_ENST00000281923.2_Missense_Mutation_p.H417N			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	417					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)	p.H417N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CACACCAGCTCATACCCCAGA	0.428																																							uc002ttv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1249-1251)CAT>AAT		N-acetylglucosaminyltransferase V							182.0	187.0	186.0					2																	135119848		2203	4300	6503	SO:0001583	missense	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135119848C>A	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.1249C>A	2.37:g.135119848C>A	ENSP00000386377:p.His417Asn						p.H417N	NM_002410	NP_002401	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	10	1394	+			417			Lumenal (Potential).		D3DP70	Missense_Mutation	SNP	ENST00000409645.1	37	c.1249C>A	CCDS2171.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763255	0.89932	.	.	ENSG00000152127	ENST00000409645;ENST00000281923	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.83755	0.5323	M	0.80332	2.49	0.80722	D	1	D	0.61080	0.989	D	0.72982	0.979	D	0.84650	0.0700	9	0.87932	D	0	-19.8183	20.2982	0.98569	0.0:1.0:0.0:0.0	.	417	Q09328	MGT5A_HUMAN	N	417	.	ENSP00000281923:H417N	H	+	1	0	MGAT5	134836318	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.608000	0.82898	2.803000	0.96430	0.655000	0.94253	CAT		0.428	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		59	290	1	0	2.12129e-23	0.00361	3.19943e-23	59	290				
TTN	7273	broad.mit.edu	37	2	179438298	179438298	+	Silent	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:179438298G>C	ENST00000591111.1	-	276	67862	c.67638C>G	c.(67636-67638)ctC>ctG	p.L22546L	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.L15314L|TTN_ENST00000589042.1_Silent_p.L24187L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.L21619L|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.L15247L|TTN_ENST00000460472.2_Silent_p.L15122L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22546	Fibronectin type-III 63. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L15122L(1)|p.L15247L(1)|p.L21619L(1)|p.L15314L(1)|p.L21617L(1)		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)			TGCCTTTCAAGAGTTTAGTGA	0.408																																							uc010zfg.1		NA																	5	Substitution - coding silent(5)		lung(5)	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.(64855-64857)CTC>CTG		titin isoform N2-A							240.0	237.0	238.0					2																	179438298		1925	4128	6053	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438298G>C	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.67638C>G	2.37:g.179438298G>C						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L15314L|TTN_uc010zfi.1_Silent_p.L15247L|TTN_uc010zfj.1_Silent_p.L15122L	p.L21619L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	65081	-			22546					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	Silent	SNP	ENST00000591111.1	37	c.64857C>G																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		67	377	0	0	0	0.00361	0	67	377				
TTN	7273	broad.mit.edu	37	2	179455351	179455351	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:179455351C>A	ENST00000591111.1	-	254	56402	c.56178G>T	c.(56176-56178)cgG>cgT	p.R18726R	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.R11494R|TTN_ENST00000589042.1_Silent_p.R20367R|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.R17799R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.R11427R|TTN_ENST00000460472.2_Silent_p.R11302R			Q8WZ42	TITIN_HUMAN	titin	18726	Fibronectin type-III 35. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> Q. {ECO:0000269|PubMed:17344846}.		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)	p.R11494R(1)|p.R17799R(1)|p.R11427R(1)|p.R17797R(1)|p.R11302R(1)		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)			GTTTGATGGGCCGGCAAGCTT	0.428																																							uc010zfg.1		NA																	5	Substitution - coding silent(5)		lung(5)	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.(53395-53397)CGG>CGT		titin isoform N2-A							108.0	106.0	107.0					2																	179455351		1883	4113	5996	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455351C>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.56178G>T	2.37:g.179455351C>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R11494R|TTN_uc010zfi.1_Silent_p.R11427R|TTN_uc010zfj.1_Silent_p.R11302R	p.R17799R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	53621	-			18726					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	Silent	SNP	ENST00000591111.1	37	c.53397G>T																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		31	157	1	0	5.71845e-15	0.005524	8.11594e-15	31	157				
TTN	7273	broad.mit.edu	37	2	179466608	179466608	+	Splice_Site	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:179466608C>G	ENST00000591111.1	-	235	50604		c.e235+1		TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000589042.1_Splice_Site|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.?(5)		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)			tatttttttaCCTGTGCATCT	0.313																																							uc010zfg.1		NA																	5	Unknown(5)		lung(5)	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.e234+1		titin isoform N2-A							54.0	50.0	51.0					2																	179466608		1794	4068	5862	SO:0001630	splice_region_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179466608C>G	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.50379+1G>C	2.37:g.179466608C>G						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Splice_Site_p.Q9561_splice|TTN_uc010zfi.1_Splice_Site_p.Q9494_splice|TTN_uc010zfj.1_Splice_Site_p.Q9369_splice	p.Q15866_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		234	47822	-								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	Splice_Site	SNP	ENST00000591111.1	37	c.47598_splice		.	.	.	.	.	.	.	.	.	.	C	16.03	3.007408	0.54361	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179174853	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	3.097000	0.50251	2.885000	0.99019	0.655000	0.94253	.		0.313	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	Intron	17	58	0	0	0	0.004007	0	17	58				
TTN	7273	broad.mit.edu	37	2	179584073	179584073	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:179584073G>A	ENST00000591111.1	-	81	23317	c.23093C>T	c.(23092-23094)tCa>tTa	p.S7698L	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S8015L|TTN_ENST00000342992.6_Missense_Mutation_p.S6771L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13241	Ig-like 59.				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)	p.S6771L(1)		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)			CCAGCCAACTGAAATCGGGGC	0.502																																							uc010zfg.1		NA																	1	Substitution - Missense(1)		lung(1)	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.(20311-20313)TCA>TTA		titin isoform N2-A							108.0	109.0	108.0					2																	179584073		1889	4110	5999	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584073G>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.23093C>T	2.37:g.179584073G>A	ENSP00000465570:p.Ser7698Leu					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3432L	p.S6771L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		80	20536	-			7698					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.20312C>T		.	.	.	.	.	.	.	.	.	.	G	14.53	2.562006	0.45590	.	.	ENSG00000155657	ENST00000342992	T	0.69435	-0.4	6.08	6.08	0.98989	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66228	0.2768	L	0.48986	1.54	0.80722	D	1	B	0.19331	0.035	B	0.17433	0.018	T	0.61382	-0.7074	9	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	7698	Q8WZ42	TITIN_HUMAN	L	6771	ENSP00000343764:S6771L	ENSP00000343764:S6771L	S	-	2	0	TTN	179292318	1.000000	0.71417	0.896000	0.35187	0.883000	0.51084	6.656000	0.74396	2.894000	0.99253	0.655000	0.94253	TCA		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	126	0	0	0	0.00632	0	26	126				
ZSWIM2	151112	broad.mit.edu	37	2	187694578	187694578	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:187694578C>A	ENST00000295131.2	-	8	1010	c.971G>T	c.(970-972)aGa>aTa	p.R324I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	324					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R324I(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AGGCAGTGATCTTACAATGTG	0.393																																							uc002upu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(970-972)AGA>ATA		zinc finger, SWIM domain containing 2							198.0	188.0	191.0					2																	187694578		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187694578C>A	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.971G>T	2.37:g.187694578C>A	ENSP00000295131:p.Arg324Ile						p.R324I	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		8	1011	-			324					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.971G>T	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	C	9.643	1.139536	0.21205	.	.	ENSG00000163012	ENST00000295131	T	0.24350	1.86	5.63	1.96	0.26148	.	0.109612	0.40554	N	0.001064	T	0.15305	0.0369	N	0.22421	0.69	0.34865	D	0.743069	B	0.28324	0.207	B	0.25884	0.064	T	0.12656	-1.0539	10	0.72032	D	0.01	-5.9559	7.905	0.29757	0.0:0.2463:0.0:0.7537	.	324	Q8NEG5	ZSWM2_HUMAN	I	324	ENSP00000295131:R324I	ENSP00000295131:R324I	R	-	2	0	ZSWIM2	187402823	0.657000	0.27393	0.562000	0.28370	0.071000	0.16799	1.111000	0.31159	0.156000	0.19299	-0.471000	0.05019	AGA		0.393	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		11	83	1	0	0.00010058	0.001368	0.000116662	11	83				
COL3A1	1281	broad.mit.edu	37	2	189859511	189859511	+	Missense_Mutation	SNP	C	C	A	rs587779665		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:189859511C>A	ENST00000304636.3	+	20	1579	c.1409C>A	c.(1408-1410)cCt>cAt	p.P470H	COL3A1_ENST00000317840.5_Missense_Mutation_p.P470H	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	470	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)	p.P470H(1)		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)	GATGGATCACCTGGAGAACCT	0.438																																							uc002uqj.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(1408-1410)CCT>CAT		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						82.0	88.0	86.0					2																	189859511		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189859511C>A	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.1409C>A	2.37:g.189859511C>A	ENSP00000304408:p.Pro470His						p.P470H	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		20	1526	+			470			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.1409C>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660731	0.47572	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.83673	-1.75;-1.75	6.17	6.17	0.99709	.	0.000000	0.51477	D	0.000095	D	0.88514	0.6457	M	0.93375	3.41	0.09310	N	1	P	0.49961	0.93	P	0.44732	0.459	D	0.85560	0.1227	10	0.48119	T	0.1	.	14.6252	0.68616	0.2406:0.7594:0.0:0.0	.	470	P02461	CO3A1_HUMAN	H	470	ENSP00000304408:P470H;ENSP00000315243:P470H	ENSP00000304408:P470H	P	+	2	0	COL3A1	189567756	0.323000	0.24643	0.980000	0.43619	0.992000	0.81027	3.418000	0.52721	2.941000	0.99782	0.655000	0.94253	CCT		0.438	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		12	64	1	0	0.00244969	0.00245	0.00265917	12	64				
SPAG16	79582	broad.mit.edu	37	2	215274946	215274946	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:215274946C>A	ENST00000331683.5	+	16	1898	c.1803C>A	c.(1801-1803)ggC>ggA	p.G601G	VWC2L_ENST00000427124.1_5'Flank|VWC2L_ENST00000312504.5_5'Flank|SPAG16_ENST00000374309.3_Silent_p.G507G|AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	601					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)		p.G601G(1)		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)		AATTGATGGGCCACGAAAACG	0.502																																							uc002veq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1801-1803)GGC>GGA		sperm associated antigen 16 isoform 1							131.0	126.0	128.0					2																	215274946		2203	4300	6503	SO:0001819	synonymous_variant	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:215274946C>A	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.1803C>A	2.37:g.215274946C>A						SPAG16_uc002ver.2_Silent_p.G547G|SPAG16_uc010zjk.1_Silent_p.G507G|VWC2L_uc002vet.2_5'Flank|VWC2L_uc010zjl.1_5'Flank	p.G601G	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)	16	1895	+		Renal(323;0.00461)	601			WD 7.		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	ENST00000331683.5	37	c.1803C>A	CCDS2396.1																																																																																				0.502	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532		28	113	1	0	5.77227e-19	0.008361	8.5647e-19	28	113				
ABCA12	26154	broad.mit.edu	37	2	215855551	215855551	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:215855551C>T	ENST00000272895.7	-	24	3718	c.3499G>A	c.(3499-3501)Gtc>Atc	p.V1167I	ABCA12_ENST00000389661.4_Missense_Mutation_p.V849I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1167					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.V1167I(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTGAAGAAGACACTGATAAGA	0.393																																					Ovarian(66;664 1488 5121 34295)	Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(3499-3501)GTC>ATC		ATP-binding cassette, sub-family A, member 12							108.0	101.0	104.0					2																	215855551		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215855551C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3499G>A	2.37:g.215855551C>T	ENSP00000272895:p.Val1167Ile					ABCA12_uc002vev.2_Missense_Mutation_p.V849I|ABCA12_uc010zjn.1_Missense_Mutation_p.V94I	p.V1167I	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	24	3719	-		Renal(323;0.127)	1167					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.3499G>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459750	0.63401	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.82893	-1.66;-1.66	5.91	5.91	0.95273	.	0.090399	0.48286	D	0.000194	D	0.88779	0.6529	M	0.81942	2.565	0.80722	D	1	P;B	0.41159	0.74;0.246	P;B	0.47864	0.559;0.197	D	0.88072	0.2801	10	0.49607	T	0.09	.	20.3011	0.98612	0.0:1.0:0.0:0.0	.	1167;849	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	I	1167;849	ENSP00000272895:V1167I;ENSP00000374312:V849I	ENSP00000272895:V1167I	V	-	1	0	ABCA12	215563796	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.968000	0.70413	2.804000	0.96469	0.650000	0.86243	GTC		0.393	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		13	63	0	0	0	0.001368	0	13	63				
SPEG	10290	broad.mit.edu	37	2	220353374	220353374	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:220353374C>A	ENST00000312358.7	+	33	8145	c.8013C>A	c.(8011-8013)acC>acA	p.T2671T	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2671	Ig-like 9.				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)	p.T2671T(1)		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)		GCTCCTGTACCGTGGCTGTGG	0.672																																							uc010fwg.2		NA																	1	Substitution - coding silent(1)		lung(1)	stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(8011-8013)ACC>ACA		SPEG complex locus							29.0	32.0	31.0					2																	220353374		1963	4151	6114	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220353374C>A	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.8013C>A	2.37:g.220353374C>A							p.T2671T	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)	33	8013	+		Renal(207;0.0183)	2671			Ig-like 9.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.8013C>A	CCDS42824.1																																																																																				0.672	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		3	35	1	0	0.004672	0.004672	0.00496536	3	35				
IRS1	3667	broad.mit.edu	37	2	227661440	227661440	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:227661440G>C	ENST00000305123.5	-	1	3035	c.2015C>G	c.(2014-2016)tCt>tGt	p.S672C	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	672					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.S672C(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AATGTCAGGAGAGCAGCCACC	0.612											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002voh.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(2014-2016)TCT>TGT		insulin receptor substrate 1							56.0	57.0	57.0					2																	227661440		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227661440G>C		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2015C>G	2.37:g.227661440G>C	ENSP00000304895:p.Ser672Cys		OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321		p.S672C	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	2067	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	672						Missense_Mutation	SNP	ENST00000305123.5	37	c.2015C>G	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842944	0.51057	.	.	ENSG00000169047	ENST00000305123	T	0.62105	0.05	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.73233	0.3561	L	0.42245	1.32	0.58432	D	0.999993	D	0.89917	1.0	D	0.87578	0.998	T	0.72083	-0.4397	10	0.39692	T	0.17	-13.0211	18.0712	0.89407	0.0:0.0:1.0:0.0	.	672	P35568	IRS1_HUMAN	C	672	ENSP00000304895:S672C	ENSP00000304895:S672C	S	-	2	0	IRS1	227369684	.	.	1.000000	0.80357	0.570000	0.35934	.	.	2.504000	0.84457	0.561000	0.74099	TCT		0.612	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		10	82	0	0	0	0.008291	0	10	82				
NCL	4691	broad.mit.edu	37	2	232322434	232322435	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:232322434_232322435CC>AA	ENST00000322723.4	-	9	1606_1607	c.1366_1367GG>TT	c.(1366-1368)GGg>TTg	p.G456L	SNORD82_ENST00000365530.1_RNA|SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	456	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.G456L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AATAGATCGCCCATCGATCTCT	0.401																																							uc002vru.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1366-1368)GGG>TTG		nucleolin																																				SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232322434_232322435CC>AA		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1366_1367delinsAA	2.37:g.232322434_232322435delinsAA	ENSP00000318195:p.Gly456Leu					SNORA75_uc002vrv.1_5'Flank|SNORD20_uc002vrw.1_5'Flank	p.G456L	NM_005381	NP_005372	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	9	1507_1508	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	456			RRM 2.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	DNP	ENST00000322723.4	37	c.1366_1367GG>TT	CCDS33397.1																																																																																				0.401	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		8	96	0	0	0	0.004672	0	8	96				
NCL	4691	broad.mit.edu	37	2	232322437	232322437	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr2:232322437T>A	ENST00000322723.4	-	9	1604	c.1364A>T	c.(1363-1365)gAt>gTt	p.D455V	SNORD82_ENST00000365530.1_RNA|SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	455	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.D455V(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AGATCGCCCATCGATCTCTGT	0.408																																							uc002vru.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1363-1365)GAT>GTT		nucleolin							166.0	153.0	157.0					2																	232322437		2203	4300	6503	SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232322437T>A		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1364A>T	2.37:g.232322437T>A	ENSP00000318195:p.Asp455Val					SNORA75_uc002vrv.1_5'Flank|SNORD20_uc002vrw.1_5'Flank	p.D455V	NM_005381	NP_005372	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	9	1505	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	455			RRM 2.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	c.1364A>T	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.773706	0.90108	.	.	ENSG00000115053	ENST00000322723;ENST00000392033;ENST00000322732;ENST00000356936	T;T	0.17370	2.28;2.28	5.49	5.49	0.81192	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.209202	0.51477	D	0.000090	T	0.39682	0.1087	M	0.68728	2.09	0.80722	D	1	P	0.46142	0.873	D	0.63113	0.911	T	0.13980	-1.0489	10	0.66056	D	0.02	-19.0945	14.8203	0.70068	0.0:0.0:0.0:1.0	.	455	P19338	NUCL_HUMAN	V	455;347;227;56	ENSP00000318195:D455V;ENSP00000349410:D56V	ENSP00000318195:D455V	D	-	2	0	NCL	232030681	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	5.579000	0.67457	2.091000	0.63221	0.456000	0.33151	GAT		0.408	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		8	95	0	0	0	0.006214	0	8	95				
RRBP1	6238	broad.mit.edu	37	20	17602407	17602407	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:17602407C>T	ENST00000377813.1	-	15	3555	c.3252G>A	c.(3250-3252)gaG>gaA	p.E1084E	RRBP1_ENST00000360807.4_Silent_p.E651E|RRBP1_ENST00000377807.2_Silent_p.E651E|RRBP1_ENST00000470422.1_5'UTR|RRBP1_ENST00000246043.4_Silent_p.E1084E|RRBP1_ENST00000455029.2_Silent_p.E425E			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1084					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.E651E(1)|p.E1084E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CCTGCAGCCACTCGGTGTAAT	0.607																																							uc002wpv.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1951-1953)GAG>GAA		ribosome binding protein 1							38.0	43.0	42.0					20																	17602407		2203	4300	6503	SO:0001819	synonymous_variant	6238				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	g.chr20:17602407C>T	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3252G>A	20.37:g.17602407C>T						RRBP1_uc010zrp.1_5'Flank|RRBP1_uc002wpt.1_Silent_p.E21E|RRBP1_uc002wpu.2_Silent_p.E425E|RRBP1_uc002wpw.1_Silent_p.E651E|RRBP1_uc010gcl.1_Silent_p.E425E|RRBP1_uc010gcm.1_Silent_p.E104E	p.E651E	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN			16	2307	-			1084			Cytoplasmic (Potential).		A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	ENST00000377813.1	37	c.1953G>A																																																																																					0.607	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1	NM_001042576		4	53	0	0	0	0.001168	0	4	53				
XRN2	22803	broad.mit.edu	37	20	21314221	21314221	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:21314221G>C	ENST00000377191.3	+	10	993	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	XRN2_ENST00000430571.2_Missense_Mutation_p.E224Q|XRN2_ENST00000539513.1_Missense_Mutation_p.E246Q	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	300					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E300Q(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TGCAGAAGGAGAGTTTATCTT	0.413																																							uc002wsf.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(898-900)GAG>CAG		5'-3' exoribonuclease 2							244.0	225.0	231.0					20																	21314221		2203	4300	6503	SO:0001583	missense	22803				cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	g.chr20:21314221G>C	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.898G>C	20.37:g.21314221G>C	ENSP00000366396:p.Glu300Gln					XRN2_uc002wsg.1_Missense_Mutation_p.E224Q|XRN2_uc010zsk.1_Missense_Mutation_p.E246Q	p.E300Q	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN			10	993	+			300					Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	c.898G>C	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933133	0.52866	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.30182	1.55;1.55;1.54	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.25306	0.0615	N	0.25094	0.71	0.80722	D	1	B	0.24721	0.11	B	0.24974	0.057	T	0.04053	-1.0981	10	0.22706	T	0.39	-19.2519	19.9002	0.96983	0.0:0.0:1.0:0.0	.	300	Q9H0D6	XRN2_HUMAN	Q	300;224;246	ENSP00000366396:E300Q;ENSP00000413548:E224Q;ENSP00000441113:E246Q	ENSP00000366396:E300Q	E	+	1	0	XRN2	21262221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.758000	0.85224	2.709000	0.92574	0.655000	0.94253	GAG		0.413	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255		22	149	0	0	0	0.002299	0	22	149				
DEFB119	245932	broad.mit.edu	37	20	29965242	29965242	+	Splice_Site	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:29965242C>G	ENST00000376321.3	-	2	181	c.62G>C	c.(61-63)gGc>gCc	p.G21A	DEFB119_ENST00000339144.3_Splice_Site_p.R34S|DEFB119_ENST00000492344.1_5'UTR|SNORA40_ENST00000390832.1_RNA	NM_153289.3	NP_695021.2	Q8N690	DB119_HUMAN	defensin, beta 119	21					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.R34S(1)|p.G21A(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GTGGCGTTTGCCTGCCAAAGG	0.433																																							uc002wvt.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(61-63)GGC>GCC		defensin, beta 119 isoform a precursor							123.0	116.0	118.0					20																	29965242		2203	4300	6503	SO:0001630	splice_region_variant	245932				defense response to bacterium	extracellular region		g.chr20:29965242C>G	AA939044	CCDS13178.1, CCDS33455.1	20q11.21	2007-02-19	2003-10-06		ENSG00000180483	ENSG00000180483		"""Defensins, beta"""	18099	protein-coding gene	gene with protein product			"""defensin, beta 120"""	DEFB120		11854508	Standard	NM_153289		Approved	DEFB-19, DEFB-20	uc002wvu.2	Q8N690	OTTHUMG00000032172	ENST00000376321.3:c.62-1G>C	20.37:g.29965242C>G						DEFB119_uc002wvs.2_Missense_Mutation_p.R34S	p.G21A	NM_153289	NP_695021	Q8N690	DB119_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	182	-	all_hematologic(12;0.158)		21					Q5GRG1|Q5JWP1|Q5TH42|Q8N689	Missense_Mutation	SNP	ENST00000376321.3	37	c.62G>C	CCDS13178.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.85|15.85	2.954329|2.954329	0.53293|0.53293	.|.	.|.	ENSG00000180483|ENSG00000180483	ENST00000376321|ENST00000339144	T|.	0.38722|.	1.12|.	4.46|4.46	3.51|3.51	0.40186|0.40186	.|.	.|.	.|.	.|.	.|.	T|T	0.39989|0.39989	0.1099|0.1099	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|P	0.32829|0.50710	0.386|0.938	B|B	0.36989|0.34931	0.238|0.192	T|T	0.47959|0.47959	-0.9076|-0.9076	8|7	0.87932|0.87932	D|D	0|0	.|.	10.7183|10.7183	0.46026|0.46026	0.0:0.8079:0.1921:0.0|0.0:0.8079:0.1921:0.0	.|.	21|34	Q8N690|Q5TH42	DB119_HUMAN|.	A|S	21|34	ENSP00000365499:G21A|.	ENSP00000365499:G21A|ENSP00000345768:R34S	G|R	-|-	2|3	0|2	DEFB119|DEFB119	29428903|29428903	0.956000|0.956000	0.32656|0.32656	0.829000|0.829000	0.32907|0.32907	0.004000|0.004000	0.04260|0.04260	1.497000|1.497000	0.35649|0.35649	1.460000|1.460000	0.47911|0.47911	-0.165000|-0.165000	0.13383|0.13383	GGC|AGG		0.433	DEFB119-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078514.1	NM_153289	Missense_Mutation	19	88	0	0	0	0.007413	0	19	88				
KIAA1755	85449	broad.mit.edu	37	20	36874333	36874333	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:36874333A>T	ENST00000279024.4	-	2	470	c.199T>A	c.(199-201)Tgt>Agt	p.C67S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	67								p.C67S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGACTTACACAGGCTGCTTCT	0.582																																							uc002xhy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(199-201)TGT>AGT		hypothetical protein LOC85449							62.0	53.0	56.0					20																	36874333		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36874333A>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.199T>A	20.37:g.36874333A>T	ENSP00000279024:p.Cys67Ser					KIAA1755_uc002xhz.1_Missense_Mutation_p.C67S	p.C67S	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			2	471	-		Myeloproliferative disorder(115;0.00874)	67					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.199T>A	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.565823	0.86439	.	.	ENSG00000149633	ENST00000279024	T	0.11495	2.77	5.51	5.51	0.81932	.	0.000000	0.53938	D	0.000057	T	0.32346	0.0826	M	0.71581	2.175	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	T	0.01621	-1.1310	10	0.44086	T	0.13	.	15.1046	0.72310	1.0:0.0:0.0:0.0	.	67	Q5JYT7	K1755_HUMAN	S	67	ENSP00000279024:C67S	ENSP00000279024:C67S	C	-	1	0	KIAA1755	36307747	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.272000	0.95707	2.217000	0.71921	0.533000	0.62120	TGT		0.582	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		9	42	0	0	0	0.004482	0	9	42				
MYBL2	4605	broad.mit.edu	37	20	42338633	42338633	+	Missense_Mutation	SNP	G	G	T	rs533591491		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:42338633G>T	ENST00000217026.4	+	10	1663	c.1536G>T	c.(1534-1536)atG>atT	p.M512I	MYBL2_ENST00000396863.4_Missense_Mutation_p.M488I	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	512					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)	p.M512I(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGTACTCCATGGACAACACTC	0.617																																							uc002xlb.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|kidney(2)	5						c.(1534-1536)ATG>ATT		MYB-related protein B							217.0	217.0	217.0					20																	42338633		2203	4300	6503	SO:0001583	missense	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42338633G>T		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1536G>T	20.37:g.42338633G>T	ENSP00000217026:p.Met512Ile					MYBL2_uc010zwj.1_Missense_Mutation_p.M488I	p.M512I	NM_002466	NP_002457	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		10	1751	+		Myeloproliferative disorder(115;0.00452)	512					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Missense_Mutation	SNP	ENST00000217026.4	37	c.1536G>T	CCDS13322.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452752	0.43531	.	.	ENSG00000101057	ENST00000396863;ENST00000217026	T;T	0.29655	1.56;1.56	4.86	4.86	0.63082	C-myb, C-terminal (1);	0.256309	0.42053	D	0.000777	T	0.16769	0.0403	N	0.12569	0.235	0.32119	N	0.588261	B;B	0.12013	0.005;0.004	B;B	0.17433	0.018;0.014	T	0.06215	-1.0839	10	0.45353	T	0.12	-23.7399	7.8556	0.29480	0.179:0.0:0.821:0.0	.	488;512	F8W6N6;P10244	.;MYBB_HUMAN	I	488;512	ENSP00000380072:M488I;ENSP00000217026:M512I	ENSP00000217026:M512I	M	+	3	0	MYBL2	41772047	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.452000	0.60054	2.427000	0.82271	0.467000	0.42956	ATG		0.617	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		27	209	1	0	1.30988e-24	0.002096	2.00206e-24	27	209				
STK4	6789	broad.mit.edu	37	20	43703736	43703736	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:43703736G>C	ENST00000372806.3	+	11	1478	c.1383G>C	c.(1381-1383)gaG>gaC	p.E461D	STK4_ENST00000499879.2_Missense_Mutation_p.E406D|STK4_ENST00000372801.1_3'UTR	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	461	SARAH. {ECO:0000255|PROSITE- ProRule:PRU00310}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)	p.E461D(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				AGATTGAAGAGATCCGGCAGA	0.532																																					GBM(187;1039 2137 11798 21916 33213)	GBM(187;1039 2137 11798 21916 33213)	uc002xnb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1381-1383)GAG>GAC		serine/threonine kinase 4							57.0	55.0	56.0					20																	43703736		2203	4300	6503	SO:0001583	missense	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43703736G>C		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.1383G>C	20.37:g.43703736G>C	ENSP00000361892:p.Glu461Asp					STK4_uc010ggx.2_3'UTR|STK4_uc010ggy.2_Missense_Mutation_p.E406D	p.E461D	NM_006282	NP_006273	Q13043	STK4_HUMAN			11	1473	+		Myeloproliferative disorder(115;0.0122)	461			SARAH.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.1383G>C	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668789	0.67814	.	.	ENSG00000101109	ENST00000372806;ENST00000499879	T;T	0.74002	-0.8;0.18	5.99	5.99	0.97316	SARAH domain (1);SARAH (1);	0.000000	0.85682	D	0.000000	T	0.72961	0.3526	L	0.55834	1.745	0.80722	D	1	B;B	0.26512	0.058;0.151	B;B	0.33690	0.105;0.168	T	0.70324	-0.4903	10	0.52906	T	0.07	.	13.6476	0.62290	0.0704:0.0:0.9296:0.0	.	406;461	F5H5B4;Q13043	.;STK4_HUMAN	D	461;406	ENSP00000361892:E461D;ENSP00000443514:E406D	ENSP00000361892:E461D	E	+	3	2	STK4	43137150	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.617000	0.61204	2.847000	0.97988	0.655000	0.94253	GAG		0.532	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		5	39	0	0	0	0.000602	0	5	39				
NFATC2	4773	broad.mit.edu	37	20	50048903	50048903	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:50048903G>A	ENST00000396009.3	-	9	2642	c.2423C>T	c.(2422-2424)tCg>tTg	p.S808L	NFATC2_ENST00000609507.1_Missense_Mutation_p.S589L|NFATC2_ENST00000371564.3_Missense_Mutation_p.S808L|NFATC2_ENST00000414705.1_Missense_Mutation_p.S788L|NFATC2_ENST00000610033.1_Missense_Mutation_p.S589L|NFATC2_ENST00000609943.1_Missense_Mutation_p.S788L	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	808					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)	p.S808L(2)	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)					GATCACAGGCGAGGCCTGCTG	0.647																																							uc002xwd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2422-2424)TCG>TTG		nuclear factor of activated T-cells,							47.0	50.0	49.0					20																	50048903		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.chr20:50048903G>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.2423C>T	20.37:g.50048903G>A	ENSP00000379330:p.Ser808Leu					NFATC2_uc002xwc.2_Missense_Mutation_p.S808L|NFATC2_uc010zyv.1_Missense_Mutation_p.S589L|NFATC2_uc010zyw.1_Missense_Mutation_p.S589L|NFATC2_uc010zyx.1_Missense_Mutation_p.S788L|NFATC2_uc010zyy.1_Missense_Mutation_p.S589L|NFATC2_uc010zyz.1_Missense_Mutation_p.S589L|NFATC2_uc002xwe.2_Missense_Mutation_p.S788L	p.S808L	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			9	2643	-	Hepatocellular(150;0.248)		808					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.2423C>T	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780159	0.49891	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.18960	2.19;2.18;2.21	5.45	5.45	0.79879	.	0.135690	0.50627	D	0.000108	T	0.15003	0.0362	L	0.36672	1.1	0.48901	D	0.999727	P;P;D;P	0.54601	0.931;0.913;0.967;0.931	B;B;B;B	0.34489	0.081;0.17;0.173;0.184	T	0.12400	-1.0549	10	0.11794	T	0.64	-4.4372	19.296	0.94122	0.0:0.0:1.0:0.0	.	788;788;808;808	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	L	808;808;788	ENSP00000360619:S808L;ENSP00000379330:S808L;ENSP00000396471:S788L	ENSP00000360619:S808L	S	-	2	0	NFATC2	49482310	1.000000	0.71417	0.903000	0.35520	0.152000	0.21847	9.452000	0.97615	2.563000	0.86464	0.650000	0.86243	TCG		0.647	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		14	84	0	0	0	0.004007	0	14	84				
ZNF217	7764	broad.mit.edu	37	20	52198638	52198638	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:52198638G>T	ENST00000371471.2	-	2	1153	c.728C>A	c.(727-729)gCt>gAt	p.A243D	ZNF217_ENST00000302342.3_Missense_Mutation_p.A243D|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	243					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A243D(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GGTACCGAAAGCAGTTTTTTT	0.478																																							uc002xwq.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6						c.(727-729)GCT>GAT		zinc finger protein 217							103.0	102.0	103.0					20																	52198638		2203	4300	6503	SO:0001583	missense	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198638G>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.728C>A	20.37:g.52198638G>T	ENSP00000360526:p.Ala243Asp					ZNF217_uc010gij.1_Missense_Mutation_p.A235D	p.A243D	NM_006526	NP_006517	O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		1	999	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		243					E1P5Y6|Q14DB8	Missense_Mutation	SNP	ENST00000371471.2	37	c.728C>A	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	G	6.975	0.549881	0.13374	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.09445	2.98;2.98	5.7	1.16	0.20824	Zinc finger, C2H2 (1);	1.025540	0.07756	N	0.949332	T	0.12135	0.0295	L	0.57536	1.79	0.09310	N	1	B	0.17465	0.022	B	0.13407	0.009	T	0.36529	-0.9744	10	0.87932	D	0	-3.1336	4.9481	0.14000	0.5478:0.1596:0.2926:0.0	.	243	O75362	ZN217_HUMAN	D	243	ENSP00000360526:A243D;ENSP00000304308:A243D	ENSP00000304308:A243D	A	-	2	0	ZNF217	51632045	0.009000	0.17119	0.000000	0.03702	0.130000	0.20726	1.301000	0.33447	0.028000	0.15324	0.591000	0.81541	GCT		0.478	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		31	201	1	0	1.08312e-15	0.009535	1.55656e-15	31	201				
TFAP2C	7022	broad.mit.edu	37	20	55209278	55209278	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:55209278G>A	ENST00000201031.2	+	5	1119	c.876G>A	c.(874-876)ggG>ggA	p.G292G	TFAP2C_ENST00000544508.1_Silent_p.G123G	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	292					cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G292G(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TTCCGGCCGGGAGGCGGAAAG	0.468																																							uc002xya.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(874-876)GGG>GGA		transcription factor AP-2 gamma							71.0	71.0	71.0					20																	55209278		2203	4300	6503	SO:0001819	synonymous_variant	7022				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr20:55209278G>A		CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.876G>A	20.37:g.55209278G>A						TFAP2C_uc010zzi.1_Silent_p.G123G	p.G292G	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Colorectal(105;0.229)		5	1119	+			292					B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Silent	SNP	ENST00000201031.2	37	c.876G>A	CCDS13454.1																																																																																				0.468	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222		24	55	0	0	0	0.004656	0	24	55				
CTCFL	140690	broad.mit.edu	37	20	56073662	56073662	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:56073662C>G	ENST00000608263.1	-	10	2597	c.1936G>C	c.(1936-1938)Gag>Cag	p.E646Q	CTCFL_ENST00000371196.2_Missense_Mutation_p.E646Q|CTCFL_ENST00000243914.3_Missense_Mutation_p.E646Q|CTCFL_ENST00000423479.3_Missense_Mutation_p.E646Q|CTCFL_ENST00000609232.1_Missense_Mutation_p.E646Q|CTCFL_ENST00000429804.3_Missense_Mutation_p.E596Q	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	646					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|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)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.E646Q(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCCACTTCCTCTTTGACTCTG	0.527																																							uc010gix.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1936-1938)GAG>CAG		CCCTC-binding factor-like protein							182.0	151.0	162.0					20																	56073662		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56073662C>G		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1936G>C	20.37:g.56073662C>G	ENSP00000476783:p.Glu646Gln					CTCFL_uc010giw.1_Missense_Mutation_p.E646Q|CTCFL_uc002xym.2_Missense_Mutation_p.E646Q|CTCFL_uc010giz.1_Missense_Mutation_p.E234Q|CTCFL_uc010giy.1_Missense_Mutation_p.E316Q|CTCFL_uc010gja.1_Missense_Mutation_p.E596Q|CTCFL_uc010gjb.1_Missense_Mutation_p.E646Q|CTCFL_uc010gjc.1_Missense_Mutation_p.E646Q|CTCFL_uc010gjd.1_Missense_Mutation_p.E646Q|CTCFL_uc010giu.2_RNA|CTCFL_uc010giv.2_Intron	p.E646Q	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		10	2598	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		646					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.1936G>C	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487855	0.44249	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804	T;T;T;T	0.13420	2.59;2.65;2.65;2.9	4.27	-4.0	0.04057	.	0.981751	0.08249	N	0.974962	T	0.06962	0.0177	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.18461	0.004;0.028;0.004;0.004	B;B;B;B	0.11329	0.004;0.006;0.004;0.003	T	0.44314	-0.9336	10	0.09338	T	0.73	0.0459	5.6201	0.17453	0.0:0.2536:0.4427:0.3037	.	596;646;646;646	E7EUE3;A1L4C6;A6XGL8;Q8NI51	.;.;.;CTCFL_HUMAN	Q	646;646;646;596	ENSP00000415579:E646Q;ENSP00000243914:E646Q;ENSP00000360239:E646Q;ENSP00000415329:E596Q	ENSP00000243914:E646Q	E	-	1	0	CTCFL	55507068	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.438000	0.02416	-1.373000	0.02134	0.491000	0.48974	GAG		0.527	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		27	198	0	0	0	0.008361	0	27	198				
CTCFL	140690	broad.mit.edu	37	20	56090879	56090879	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:56090879C>G	ENST00000608263.1	-	5	1732	c.1071G>C	c.(1069-1071)ttG>ttC	p.L357F	CTCFL_ENST00000371196.2_Missense_Mutation_p.L357F|CTCFL_ENST00000608903.1_Missense_Mutation_p.L95F|CTCFL_ENST00000502686.2_Missense_Mutation_p.L95F|CTCFL_ENST00000243914.3_Missense_Mutation_p.L357F|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000423479.3_Missense_Mutation_p.L357F|CTCFL_ENST00000433949.3_Missense_Mutation_p.L152F|CTCFL_ENST00000539382.1_Missense_Mutation_p.L152F|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000608425.1_Missense_Mutation_p.L357F|CTCFL_ENST00000609232.1_Missense_Mutation_p.L357F|CTCFL_ENST00000429804.3_Missense_Mutation_p.L357F|CTCFL_ENST00000422869.2_Missense_Mutation_p.L357F|CTCFL_ENST00000608440.1_Missense_Mutation_p.L357F	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	357					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|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)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.L357F(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CATGGCGCTTCAATTTACTTG	0.418																																							uc010gix.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1069-1071)TTG>TTC		CCCTC-binding factor-like protein							119.0	118.0	118.0					20																	56090879		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56090879C>G		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1071G>C	20.37:g.56090879C>G	ENSP00000476783:p.Leu357Phe					CTCFL_uc010giw.1_Missense_Mutation_p.L357F|CTCFL_uc002xym.2_Missense_Mutation_p.L357F|CTCFL_uc010giz.1_5'UTR|CTCFL_uc010giy.1_5'UTR|CTCFL_uc010gja.1_Missense_Mutation_p.L357F|CTCFL_uc010gjb.1_Missense_Mutation_p.L357F|CTCFL_uc010gjc.1_Missense_Mutation_p.L357F|CTCFL_uc010gjd.1_Missense_Mutation_p.L357F|CTCFL_uc010gje.2_Missense_Mutation_p.L357F|CTCFL_uc010gjf.2_Missense_Mutation_p.L152F|CTCFL_uc010gjg.2_Missense_Mutation_p.L89F|CTCFL_uc010gjh.1_Intron|CTCFL_uc010gji.1_Missense_Mutation_p.L152F|CTCFL_uc010gjj.1_Missense_Mutation_p.L357F	p.L357F	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		5	1733	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		357			C2H2-type 4.		A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.1071G>C	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065256	0.55432	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.24	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.235442	0.21477	N	0.073897	T	0.71626	0.3362	M	0.87328	2.875	0.42422	D	0.992643	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.992;0.997;0.992;0.992	T	0.77180	-0.2682	10	0.72032	D	0.01	-17.9979	13.2313	0.59945	0.0:0.9212:0.0:0.0788	.	357;357;357;357;357	A6XGM9;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;CTCFL_HUMAN	F	357;357;357;357;357;95;357;357;152;357	ENSP00000415579:L357F;ENSP00000243914:L357F;ENSP00000360239:L357F;ENSP00000415329:L357F;ENSP00000392034:L357F;ENSP00000437999:L95F;ENSP00000413713:L357F;ENSP00000403369:L357F;ENSP00000439998:L152F;ENSP00000399061:L357F	ENSP00000243914:L357F	L	-	3	2	CTCFL	55524285	1.000000	0.71417	0.982000	0.44146	0.114000	0.19823	4.637000	0.61346	1.341000	0.45600	0.650000	0.86243	TTG		0.418	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		27	140	0	0	0	0.005443	0	27	140				
DIDO1	11083	broad.mit.edu	37	20	61513077	61513077	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr20:61513077C>G	ENST00000266070.4	-	16	4556	c.4231G>C	c.(4231-4233)Gaa>Caa	p.E1411Q	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1411Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1411					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E1411Q(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGAGCCCTTTCCACCTCGTGG	0.607																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(4231-4233)GAA>CAA		death inducer-obliterator 1 isoform c							78.0	84.0	82.0					20																	61513077		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513077C>G	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4231G>C	20.37:g.61513077C>G	ENSP00000266070:p.Glu1411Gln					DIDO1_uc002yds.1_Missense_Mutation_p.E1411Q	p.E1411Q	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	4495	-	Breast(26;5.68e-08)		1411					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4231G>C	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987199	0.35036	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09630	2.96;2.96	5.32	2.24	0.28232	.	0.972479	0.08368	N	0.956627	T	0.12092	0.0294	L	0.50919	1.6	0.21064	N	0.999792	B	0.21381	0.055	B	0.15052	0.012	T	0.32613	-0.9900	10	0.37606	T	0.19	-6.8515	10.0754	0.42358	0.0:0.6589:0.2697:0.0713	.	1411	Q9BTC0	DIDO1_HUMAN	Q	1411	ENSP00000266070:E1411Q;ENSP00000378752:E1411Q	ENSP00000266070:E1411Q	E	-	1	0	DIDO1	60983522	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	1.057000	0.30492	0.216000	0.20781	-0.300000	0.09419	GAA		0.607	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		12	165	0	0	0	0.001855	0	12	165				
JAM2	58494	broad.mit.edu	37	21	27066141	27066141	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr21:27066141G>A	ENST00000480456.1	+	4	865	c.315G>A	c.(313-315)ggG>ggA	p.G105G	JAM2_ENST00000400532.1_Silent_p.G105G|JAM2_ENST00000425221.2_Silent_p.G69G|JAM2_ENST00000312957.5_Silent_p.G105G	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	105	Ig-like V-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.G105G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GTGATGCGGGGAAATATCGTT	0.393																																							uc002ylp.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(313-315)GGG>GGA		junctional adhesion molecule 2 precursor							172.0	174.0	174.0					21																	27066141		1979	4149	6128	SO:0001819	synonymous_variant	58494				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		g.chr21:27066141G>A	AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.315G>A	21.37:g.27066141G>A						JAM2_uc011ace.1_Silent_p.G105G|JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Silent_p.G69G|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Silent_p.G105G|JAM2_uc010gli.1_Silent_p.G105G	p.G105G	NM_021219	NP_067042	P57087	JAM2_HUMAN			4	860	+			105			Ig-like V-type.|Extracellular (Potential).		B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Silent	SNP	ENST00000480456.1	37	c.315G>A	CCDS42911.1																																																																																				0.393	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171347.1			20	110	0	0	0	0.001882	0	20	110				
KRTAP27-1	643812	broad.mit.edu	37	21	31709806	31709806	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr21:31709806G>T	ENST00000382835.2	-	1	206	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	61						intermediate filament (GO:0005882)		p.Q61K(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TTGGTCATTTGGCAGCTGGTG	0.453																																							uc002ynx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(181-183)CAA>AAA		keratin associated protein 27-1							162.0	153.0	156.0					21																	31709806		2203	4300	6503	SO:0001583	missense	643812					intermediate filament		g.chr21:31709806G>T	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.181C>A	21.37:g.31709806G>T	ENSP00000372286:p.Gln61Lys						p.Q61K	NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN			1	207	-			61						Missense_Mutation	SNP	ENST00000382835.2	37	c.181C>A	CCDS33532.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.587712	0.00872	.	.	ENSG00000206107	ENST00000382835	T	0.04551	3.6	4.34	2.36	0.29203	.	1.681600	0.03663	N	0.242855	T	0.04634	0.0126	N	0.16743	0.435	0.09310	N	1	B	0.18013	0.025	B	0.20955	0.032	T	0.44483	-0.9325	10	0.21014	T	0.42	-0.2387	10.6089	0.45410	0.0:0.0:0.7485:0.2515	.	61	Q3LI81	KR271_HUMAN	K	61	ENSP00000372286:Q61K	ENSP00000372286:Q61K	Q	-	1	0	KRTAP27-1	30631677	0.118000	0.22208	0.056000	0.19401	0.120000	0.20174	0.788000	0.26872	0.641000	0.30601	0.591000	0.81541	CAA		0.453	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3	NM_001077711		21	112	1	0	6.33239e-15	0.010504	8.95944e-15	21	112				
KRTAP10-9	386676	broad.mit.edu	37	21	46047816	46047816	+	Missense_Mutation	SNP	G	G	T	rs587683267		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr21:46047816G>T	ENST00000397911.3	+	1	777	c.728G>T	c.(727-729)tGc>tTc	p.C243F	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	243	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.C243F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						AGGCCCGCCTGCTGCGTGCCC	0.697																																							uc002zfp.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(727-729)TGC>TTC		keratin associated protein 10-9							79.0	96.0	90.0					21																	46047816		2203	4298	6501	SO:0001583	missense	386676					keratin filament		g.chr21:46047816G>T	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.728G>T	21.37:g.46047816G>T	ENSP00000381009:p.Cys243Phe					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C243F	NM_198690	NP_941963	P60411	KR109_HUMAN			1	777	+			243			24.|25 X 5 AA repeats of C-C-X(3).		A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	c.728G>T	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	g	9.955	1.221187	0.22457	.	.	ENSG00000221837	ENST00000397911	T	0.02863	4.13	3.37	3.37	0.38596	.	.	.	.	.	T	0.08802	0.0218	M	0.88450	2.955	0.39352	D	0.965773	P	0.43231	0.801	B	0.43623	0.425	T	0.09422	-1.0675	8	.	.	.	.	12.5705	0.56334	0.0:0.0:1.0:0.0	.	243	P60411	KR109_HUMAN	F	243	ENSP00000381009:C243F	.	C	+	2	0	KRTAP10-9	44872244	0.743000	0.28239	0.489000	0.27452	0.009000	0.06853	2.972000	0.49256	1.581000	0.49865	0.467000	0.42956	TGC		0.697	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			47	155	1	0	7.88023e-25	0.00361	1.20848e-24	47	155				
GNAZ	2781	broad.mit.edu	37	22	23438485	23438485	+	Silent	SNP	C	C	T	rs375941406		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:23438485C>T	ENST00000248996.4	+	2	1269	c.603C>T	c.(601-603)gaC>gaT	p.D201D	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	201					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)	p.D201D(1)		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)		AGATGGTGGACGTGGGGGGGC	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		19093	0.0		0.001	False		,,,				2504	0.0						uc002zwu.1		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(1)|skin(1)	2						c.(601-603)GAC>GAT		guanine nucleotide binding protein, alpha z		C	,	0,4406		0,0,2203	131.0	137.0	135.0		603,	-8.9	0.4	22		135	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron	GNAZ,RTDR1	NM_002073.2,NM_014433.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	201/356,	23438485	1,13005	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.chr22:23438485C>T		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.603C>T	22.37:g.23438485C>T						RTDR1_uc002zwt.2_Intron	p.D201D	NM_002073	NP_002064	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	1140	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		201			GTP (By similarity).		B2R6C1|Q4QRJ6	Silent	SNP	ENST00000248996.4	37	c.603C>T	CCDS13804.1																																																																																				0.572	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		21	150	0	0	0	0.008871	0	21	150				
CHEK2	11200	broad.mit.edu	37	22	29130657	29130657	+	Missense_Mutation	SNP	C	C	G	rs151218932		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:29130657C>G	ENST00000405598.1	-	3	244	c.53G>C	c.(52-54)tGt>tCt	p.C18S	CHEK2_ENST00000382580.2_Missense_Mutation_p.C18S|CHEK2_ENST00000402731.1_Missense_Mutation_p.C18S|CHEK2_ENST00000403642.1_Missense_Mutation_p.C18S|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.C18S|CHEK2_ENST00000382565.1_Missense_Mutation_p.C18S|CHEK2_ENST00000382578.1_Missense_Mutation_p.C18S|CHEK2_ENST00000382566.1_Missense_Mutation_p.C18S|CHEK2_ENST00000348295.3_Missense_Mutation_p.C18S|CHEK2_ENST00000404276.1_Missense_Mutation_p.C18S			O96017	CHK2_HUMAN	checkpoint kinase 2	18					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.C18S(1)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GGGCTGTGAACAGGCACTGCT	0.557			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																															uc003adu.1		NA	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			1	Substitution - Missense(1)		lung(1)	central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(52-54)TGT>TCT	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a							114.0	94.0	101.0					22																	29130657		2203	4300	6503	SO:0001583	missense	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29130657C>G	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.53G>C	22.37:g.29130657C>G	ENSP00000386087:p.Cys18Ser					CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Missense_Mutation_p.C18S|CHEK2_uc010gvi.1_Missense_Mutation_p.C18S|CHEK2_uc010gvj.1_RNA|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.C18S|CHEK2_uc003adv.1_Missense_Mutation_p.C18S|CHEK2_uc003adw.1_Missense_Mutation_p.C18S|CHEK2_uc003adx.1_5'UTR|CHEK2_uc003ady.1_Missense_Mutation_p.C18S|CHEK2_uc003adz.1_5'UTR	p.C18S	NM_007194	NP_009125	O96017	CHK2_HUMAN			2	125	-			18					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.53G>C	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	C	8.377	0.836682	0.16891	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382563;ENST00000382566;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731;ENST00000447421;ENST00000439200;ENST00000398017	T;T;T;D;T;T;T;T;T;T;T;D;D	0.92911	1.0;-0.09;0.02;-2.95;0.03;0.03;0.03;-0.08;-0.09;1.0;0.48;-3.13;-2.01	3.97	-7.78	0.01223	.	1.318160	0.04973	N	0.464209	D	0.83175	0.5197	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B;B	0.25521	0.0;0.0;0.0;0.0;0.0;0.128	B;B;B;B;B;B	0.25987	0.001;0.001;0.0;0.001;0.0;0.065	T	0.70547	-0.4842	10	0.10902	T	0.67	-0.5526	14.0542	0.64756	0.0843:0.7551:0.1606:0.0	.	18;18;18;18;18;18	O96017-7;O96017-4;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	S	18;18;18;18;18;18;18;18;18;18;18;18;18;28	ENSP00000329012:C18S;ENSP00000372021:C18S;ENSP00000372006:C18S;ENSP00000372007:C18S;ENSP00000329178:C18S;ENSP00000385747:C18S;ENSP00000386087:C18S;ENSP00000372023:C18S;ENSP00000384919:C18S;ENSP00000384835:C18S;ENSP00000397478:C18S;ENSP00000408065:C18S;ENSP00000381099:C28S	ENSP00000329178:C18S	C	-	2	0	CHEK2	27460657	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.427000	0.06999	-1.108000	0.03000	-0.182000	0.12963	TGT		0.557	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		31	88	0	0	0	0.002096	0	31	88				
NCF4	4689	broad.mit.edu	37	22	37272127	37272127	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:37272127A>T	ENST00000248899.6	+	9	999	c.815A>T	c.(814-816)gAg>gTg	p.E272V	NCF4_ENST00000397147.4_3'UTR	NM_000631.4	NP_000622.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	272	OPR.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of catalytic activity (GO:0043085)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|membrane (GO:0016020)|NADPH oxidase complex (GO:0043020)|phagolysosome (GO:0032010)	phosphatidylinositol-3-phosphate binding (GO:0032266)|protein dimerization activity (GO:0046983)|superoxide-generating NADPH oxidase activator activity (GO:0016176)	p.E272V(1)		cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16					Dextromethorphan(DB00514)	GACCTGCTGGAGCTCACAAGG	0.557																																							uc003apy.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(814-816)GAG>GTG		neutrophil cytosolic factor 4 isoform 1							22.0	22.0	22.0					22																	37272127		2201	4293	6494	SO:0001583	missense	4689				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity	g.chr22:37272127A>T	X77094	CCDS13934.1, CCDS13935.1	22q13.1	2014-09-17	2002-08-29		ENSG00000100365	ENSG00000100365			7662	protein-coding gene	gene with protein product	"""neutrophil NADPH oxidase factor 4"""	601488	"""neutrophil cytosolic factor 4 (40kD)"""			8839867	Standard	NM_013416		Approved	p40phox, SH3PXD4	uc003apy.4	Q15080	OTTHUMG00000150548	ENST00000248899.6:c.815A>T	22.37:g.37272127A>T	ENSP00000248899:p.Glu272Val					NCF4_uc003apz.3_3'UTR	p.E272V	NM_000631	NP_000622	Q15080	NCF4_HUMAN			9	999	+			272					A8K4F9|O60808|Q86U56|Q9BU98|Q9NP45	Missense_Mutation	SNP	ENST00000248899.6	37	c.815A>T	CCDS13934.1	.	.	.	.	.	.	.	.	.	.	A	12.12	1.842163	0.32513	.	.	ENSG00000100365	ENST00000248899	T	0.24908	1.83	5.05	0.0557	0.14316	Phox/Bem1p (2);	.	.	.	.	T	0.17916	0.0430	L	0.51422	1.61	0.80722	D	1	B	0.14805	0.011	B	0.18263	0.021	T	0.09952	-1.0651	9	0.16896	T	0.51	.	4.8497	0.13531	0.5336:0.3016:0.1648:0.0	.	272	Q15080	NCF4_HUMAN	V	272	ENSP00000248899:E272V	ENSP00000248899:E272V	E	+	2	0	NCF4	35602073	0.844000	0.29557	0.984000	0.44739	0.941000	0.58515	0.262000	0.18460	-0.025000	0.13918	0.528000	0.53228	GAG		0.557	NCF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318863.1	NM_000631		5	23	0	0	0	0.001168	0	5	23				
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092					GBM(91;329 1845 13264 22235)	uc003bci.2		NA																	0					0						c.(94-96)TCG>GCG		SubName: Full=Cytochrome P450 2D6;          EC=1.14.14.1;																																						1564							g.chr22:42538870A>C																													22.37:g.42538870A>C						CYP2D7P1_uc003bcg.2_5'Flank|CYP2D7P1_uc003bch.2_5'Flank|CYP2D7P1_uc010gyv.2_Intron|CYP2D7P1_uc010gyw.2_RNA|CYP2D7P1_uc010gyx.1_Missense_Mutation_p.S32A	p.S32A	NR_002570						3	475	-									Missense_Mutation	SNP	ENST00000428786.1	37	c.94T>G		30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			3	22	0	0	0	0.000602	0	3	22				
TCF20	6942	broad.mit.edu	37	22	42607837	42607837	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:42607837C>T	ENST00000359486.3	-	1	3611	c.3475G>A	c.(3475-3477)Gag>Aag	p.E1159K	TCF20_ENST00000335626.4_Missense_Mutation_p.E1159K|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1159					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E1159K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CGCCCAGCCTCCTGGGCACTG	0.507																																							uc003bcj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(3475-3477)GAG>AAG		transcription factor 20 isoform 1							74.0	71.0	72.0					22																	42607837		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42607837C>T	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3475G>A	22.37:g.42607837C>T	ENSP00000352463:p.Glu1159Lys					TCF20_uc003bck.1_Missense_Mutation_p.E1159K|TCF20_uc003bnt.2_Missense_Mutation_p.E1159K	p.E1159K	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	3609	-			1159					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.3475G>A	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305188	0.60305	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.63744	-0.05;-0.06	6.06	6.06	0.98353	.	0.153808	0.44902	D	0.000412	T	0.54822	0.1882	N	0.19112	0.55	0.80722	D	1	B;B	0.30584	0.286;0.189	B;B	0.33750	0.169;0.081	T	0.55554	-0.8123	10	0.72032	D	0.01	-8.6536	20.6208	0.99490	0.0:1.0:0.0:0.0	.	1159;1159	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	K	1159	ENSP00000352463:E1159K;ENSP00000335561:E1159K	ENSP00000335561:E1159K	E	-	1	0	TCF20	40937781	1.000000	0.71417	0.999000	0.59377	0.478000	0.33099	5.311000	0.65786	2.882000	0.98803	0.655000	0.94253	GAG		0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		19	92	0	0	0	0.007413	0	19	92				
EFCAB6	64800	broad.mit.edu	37	22	44073894	44073894	+	Silent	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:44073894C>G	ENST00000262726.7	-	13	1654	c.1401G>C	c.(1399-1401)ctG>ctC	p.L467L	EFCAB6_ENST00000358439.4_3'UTR|EFCAB6_ENST00000396231.2_Silent_p.L315L	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	467	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.L467L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCTCTTCAATCAGATCAATAA	0.388																																							uc003bdy.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7						c.(1399-1401)CTG>CTC		CAP-binding protein complex interacting protein							108.0	106.0	106.0					22																	44073894		2203	4300	6503	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44073894C>G	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1401G>C	22.37:g.44073894C>G						EFCAB6_uc003bdz.1_Silent_p.L315L|EFCAB6_uc010gzi.1_Silent_p.L315L|EFCAB6_uc010gzk.1_RNA|EFCAB6_uc011aqa.1_3'UTR	p.L467L	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN			13	1616	-		Ovarian(80;0.0247)|all_neural(38;0.025)	467			EF-hand 5.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.1401G>C	CCDS14049.1																																																																																				0.388	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		7	41	0	0	0	0.001984	0	7	41				
SMC1B	27127	broad.mit.edu	37	22	45755800	45755800	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:45755800T>A	ENST00000357450.4	-	18	2746	c.2747A>T	c.(2746-2748)cAa>cTa	p.Q916L	SMC1B_ENST00000404354.3_Missense_Mutation_p.Q916L	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	916					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.Q916L(1)|p.Q914L(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CAGAGAAGTTTGAATACTTAC	0.373																																							uc003bgc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2746-2748)CAA>CTA		SMC1 structural maintenance of chromosomes							104.0	88.0	93.0					22																	45755800		1840	4096	5936	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45755800T>A	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.2747A>T	22.37:g.45755800T>A	ENSP00000350036:p.Gln916Leu					SMC1B_uc003bgd.2_Missense_Mutation_p.Q916L	p.Q916L	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	18	2799	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	916			Potential.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.2747A>T	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.532300	0.45073	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.79845	-1.31;-1.12	5.25	5.25	0.73442	.	0.155307	0.29783	N	0.011209	T	0.80099	0.4561	L	0.43152	1.355	0.50313	D	0.999862	P;P	0.49961	0.93;0.823	P;B	0.48270	0.572;0.236	T	0.82653	-0.0351	10	0.72032	D	0.01	.	15.1961	0.73088	0.0:0.0:0.0:1.0	.	916;916	Q8NDV3-2;Q8NDV3-3	.;.	L	916	ENSP00000350036:Q916L;ENSP00000385902:Q916L	ENSP00000350036:Q916L	Q	-	2	0	SMC1B	44134464	1.000000	0.71417	0.164000	0.22755	0.239000	0.25481	7.728000	0.84847	1.999000	0.58509	0.459000	0.35465	CAA		0.373	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		5	29	0	0	0	0.000602	0	5	29				
PLCL2	23228	broad.mit.edu	37	3	17056292	17056292	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:17056292G>T	ENST00000418129.2	+	3	2994	c.2529G>T	c.(2527-2529)ggG>ggT	p.G843G	PLCL2_ENST00000396755.2_Silent_p.G843G|PLCL2_ENST00000432376.1_Silent_p.G843G	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	969	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.G843G(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GCTTTCTGGGGCCCGATAACA	0.537																																							uc011awc.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(2881-2883)GGG>GGT		phospholipase C-like 2 isoform 1							166.0	166.0	166.0					3																	17056292		2203	4300	6503	SO:0001819	synonymous_variant	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17056292G>T	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2529G>T	3.37:g.17056292G>T						PLCL2_uc011awd.1_Silent_p.G843G	p.G961G	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			6	2988	+			969					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Silent	SNP	ENST00000418129.2	37	c.2883G>T	CCDS33713.1	.	.	.	.	.	.	.	.	.	.	G	9.472	1.095783	0.20552	.	.	ENSG00000154822	ENST00000419842	T	0.20738	2.05	5.16	-0.613	0.11594	.	0.161298	0.56097	D	0.000037	T	0.28732	0.0712	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.04664	-1.0935	7	0.45353	T	0.12	.	10.7855	0.46403	0.4848:0.0:0.5152:0.0	.	.	.	.	V	587	ENSP00000404433:G587V	ENSP00000404433:G587V	G	+	2	0	PLCL2	17031296	0.004000	0.15560	0.993000	0.49108	0.941000	0.58515	-0.941000	0.03925	0.008000	0.14787	0.655000	0.94253	GGC		0.537	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			40	133	1	0	1.62957e-23	0.00874	2.46594e-23	40	133				
TOP2B	7155	broad.mit.edu	37	3	25672356	25672356	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:25672356C>A	ENST00000264331.4	-	11	1340	c.1341G>T	c.(1339-1341)aaG>aaT	p.K447N	TOP2B_ENST00000435706.2_Missense_Mutation_p.K442N	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	447					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.K442N(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CTGATGAACACTTCTTATTCA	0.313																																							uc011awn.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(1339-1341)AAG>AAT		DNA topoisomerase II, beta isozyme							125.0	116.0	118.0					3																	25672356		1848	4095	5943	SO:0001583	missense	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25672356C>A	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.1341G>T	3.37:g.25672356C>A	ENSP00000264331:p.Lys447Asn					TOP2B_uc003cdj.2_Missense_Mutation_p.K442N	p.K447N	NM_001068	NP_001059	Q02880	TOP2B_HUMAN			11	1384	-			447					Q13600|Q9UMG8|Q9UQP8	Missense_Mutation	SNP	ENST00000264331.4	37	c.1341G>T		.	.	.	.	.	.	.	.	.	.	C	16.96	3.267153	0.59540	.	.	ENSG00000077097	ENST00000435706;ENST00000264331;ENST00000424225	T;T	0.51817	0.69;0.69	5.33	1.57	0.23409	.	0.000000	0.85682	D	0.000000	T	0.68348	0.2991	M	0.92268	3.29	0.80722	D	1	D	0.65815	0.995	D	0.64321	0.924	T	0.68644	-0.5354	10	0.87932	D	0	-4.821	7.1121	0.25396	0.0:0.4324:0.0:0.5676	.	442	Q02880-2	.	N	442;447;442	ENSP00000396704:K442N;ENSP00000264331:K447N	ENSP00000264331:K447N	K	-	3	2	TOP2B	25647360	0.981000	0.34729	1.000000	0.80357	0.978000	0.69477	0.168000	0.16622	0.258000	0.21686	-0.263000	0.10527	AAG		0.313	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				14	69	1	0	7.93312e-07	0.00245	9.64212e-07	14	69				
CCDC13	152206	broad.mit.edu	37	3	42781129	42781129	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:42781129G>A	ENST00000310232.6	-	9	1244	c.1161C>T	c.(1159-1161)ctC>ctT	p.L387L	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	387								p.L387L(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GCCATACCATGAGGGCGTCGA	0.607																																							uc003cly.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1159-1161)CTC>CTT		coiled-coil domain containing 13							113.0	98.0	103.0					3																	42781129		2203	4300	6503	SO:0001819	synonymous_variant	152206							g.chr3:42781129G>A	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1161C>T	3.37:g.42781129G>A							p.L387L	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN			9	1245	-			387			Potential.			Silent	SNP	ENST00000310232.6	37	c.1161C>T	CCDS2705.1																																																																																				0.607	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		6	48	0	0	0	0.00308	0	6	48				
TGM4	7047	broad.mit.edu	37	3	44951754	44951754	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:44951754C>A	ENST00000296125.4	+	11	1568	c.1500C>A	c.(1498-1500)gcC>gcA	p.A500A		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	500					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.A500A(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	AGACCGCTGCCCTACAGAATG	0.438																																							uc003coc.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1498-1500)GCC>GCA		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						114.0	107.0	109.0					3																	44951754		2203	4300	6503	SO:0001819	synonymous_variant	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44951754C>A	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1500C>A	3.37:g.44951754C>A							p.A500A	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	11	1573	+			500					Q16707|Q96QN4	Silent	SNP	ENST00000296125.4	37	c.1500C>A	CCDS2723.1																																																																																				0.438	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		22	90	1	0	1.85244e-09	0.00333	2.43967e-09	22	90				
SCAP	22937	broad.mit.edu	37	3	47465464	47465464	+	Nonsense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:47465464G>C	ENST00000265565.5	-	9	1521	c.1109C>G	c.(1108-1110)tCa>tGa	p.S370*	SCAP_ENST00000465628.1_5'Flank|SCAP_ENST00000545718.1_5'UTR|SCAP_ENST00000441517.2_Nonsense_Mutation_p.S115*	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	370	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)	p.S370*(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TACCGGGGTTGAGACCACAGA	0.577																																					Pancreas(149;978 1908 29304 37806 46700)	Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1108-1110)TCA>TGA		SREBF chaperone protein							110.0	87.0	95.0					3																	47465464		2203	4300	6503	SO:0001587	stop_gained	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47465464G>C	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.1109C>G	3.37:g.47465464G>C	ENSP00000265565:p.Ser370*					SCAP_uc011baz.1_Nonsense_Mutation_p.S115*|SCAP_uc003crg.2_5'UTR	p.S370*	NM_012235	NP_036367	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	9	1364	-			370			SSD.|Cytoplasmic (By similarity).		Q8N2E0|Q8WUA1	Nonsense_Mutation	SNP	ENST00000265565.5	37	c.1109C>G	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	G	38	7.199263	0.98129	.	.	ENSG00000114650	ENST00000339815;ENST00000265565;ENST00000441517;ENST00000383739	.	.	.	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-16.6395	17.8555	0.88761	0.0:0.0:1.0:0.0	.	.	.	.	X	370;370;115;63	.	ENSP00000265565:S370X	S	-	2	0	SCAP	47440468	1.000000	0.71417	0.948000	0.38648	0.884000	0.51177	9.344000	0.97050	2.450000	0.82876	0.655000	0.94253	TCA		0.577	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235		5	30	0	0	0	0.001168	0	5	30				
CSPG5	10675	broad.mit.edu	37	3	47618951	47618951	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:47618951G>T	ENST00000383738.2	-	2	2663	c.565C>A	c.(565-567)Cca>Aca	p.P189T	CSPG5_ENST00000264723.4_Missense_Mutation_p.P189T|CSPG5_ENST00000456150.1_Missense_Mutation_p.P51T|CSPG5_ENST00000465441.1_5'Flank	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	189					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)	p.P189T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GTCAGCTCTGGCCCTTGAGGG	0.607																																							uc003crp.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(565-567)CCA>ACA		chondroitin sulfate proteoglycan 5 (neuroglycan							43.0	48.0	47.0					3																	47618951		2203	4300	6503	SO:0001583	missense	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618951G>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.565C>A	3.37:g.47618951G>T	ENSP00000373244:p.Pro189Thr					CSPG5_uc003crn.2_Missense_Mutation_p.P51T|CSPG5_uc003cro.3_Missense_Mutation_p.P189T|CSPG5_uc011bbb.1_Missense_Mutation_p.P51T	p.P189T	NM_006574	NP_006565	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	741	-			189			Extracellular (Potential).		Q71M39|Q71M40	Missense_Mutation	SNP	ENST00000383738.2	37	c.565C>A	CCDS56253.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.477285	0.44044	.	.	ENSG00000114646	ENST00000456150;ENST00000383738;ENST00000264723	T;T;T	0.62941	-0.01;-0.01;-0.01	3.93	3.0	0.34707	Chondroitin sulphate attachment (1);	0.368557	0.23365	N	0.048962	T	0.50017	0.1591	L	0.29908	0.895	0.27152	N	0.961382	P;B	0.35793	0.521;0.264	B;B	0.40825	0.341;0.085	T	0.49021	-0.8982	10	0.87932	D	0	-0.0699	6.4031	0.21650	0.1526:0.0:0.8474:0.0	.	189;189	O95196;O95196-2	CSPG5_HUMAN;.	T	51;189;189	ENSP00000392096:P51T;ENSP00000373244:P189T;ENSP00000264723:P189T	ENSP00000264723:P189T	P	-	1	0	CSPG5	47593955	0.141000	0.22595	0.982000	0.44146	0.989000	0.77384	1.442000	0.35046	0.907000	0.36646	0.643000	0.83706	CCA		0.607	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		8	48	1	0	0.00307968	0.00308	0.00330379	8	48				
OR5K3	403277	broad.mit.edu	37	3	98110219	98110219	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:98110219C>A	ENST00000383695.1	+	1	710	c.710C>A	c.(709-711)tCt>tAt	p.S237Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S237Y(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						AAAGCTTTATCTACTTGTGCA	0.358																																							uc011bgw.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(709-711)TCT>TAT		olfactory receptor, family 5, subfamily K,							169.0	163.0	165.0					3																	98110219		2203	4300	6503	SO:0001583	missense	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98110219C>A		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.710C>A	3.37:g.98110219C>A	ENSP00000373194:p.Ser237Tyr						p.S237Y	NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN			1	710	+			237			Helical; Name=6; (Potential).			Missense_Mutation	SNP	ENST00000383695.1	37	c.710C>A	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.356949	0.61293	.	.	ENSG00000206536	ENST00000383695	T	0.00311	8.15	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000662	T	0.00936	0.0031	M	0.92026	3.265	0.30669	N	0.753587	D	0.69078	0.997	D	0.72075	0.976	T	0.09250	-1.0683	10	0.87932	D	0	-50.1144	16.4659	0.84079	0.0:1.0:0.0:0.0	.	237	A6NET4	OR5K3_HUMAN	Y	237	ENSP00000373194:S237Y	ENSP00000373194:S237Y	S	+	2	0	OR5K3	99592909	0.017000	0.18338	1.000000	0.80357	0.882000	0.50991	1.854000	0.39368	2.527000	0.85204	0.603000	0.83216	TCT		0.358	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			16	104	1	0	8.60227e-14	0.004007	1.2059e-13	16	104				
KIAA1524	57650	broad.mit.edu	37	3	108271090	108271090	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:108271090C>G	ENST00000295746.8	-	20	2614	c.2538G>C	c.(2536-2538)ttG>ttC	p.L846F	KIAA1524_ENST00000491772.1_Missense_Mutation_p.L687F	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	846					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L846F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTTAATGCTCAACTCTTTTC	0.313																																							uc003dxb.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2536-2538)TTG>TTC		p90 autoantigen							199.0	184.0	189.0					3																	108271090		2201	4296	6497	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108271090C>G	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2538G>C	3.37:g.108271090C>G	ENSP00000295746:p.Leu846Phe						p.L846F	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			20	2807	-			846			Potential.		A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.2538G>C	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.757138	0.49468	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.19105	2.17;2.17	4.85	1.41	0.22369	.	0.301067	0.31660	N	0.007262	T	0.31544	0.0800	L	0.57536	1.79	0.35918	D	0.831571	D	0.76494	0.999	D	0.71656	0.974	T	0.32322	-0.9911	10	0.41790	T	0.15	0.001	2.7728	0.05339	0.1322:0.5021:0.13:0.2357	.	846	Q8TCG1	CIP2A_HUMAN	F	687;846	ENSP00000419487:L687F;ENSP00000295746:L846F	ENSP00000295746:L846F	L	-	3	2	KIAA1524	109753780	1.000000	0.71417	0.995000	0.50966	0.906000	0.53458	1.356000	0.34079	0.417000	0.25871	0.557000	0.71058	TTG		0.313	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		8	56	0	0	0	0.004482	0	8	56				
HCLS1	3059	broad.mit.edu	37	3	121351263	121351263	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:121351263T>A	ENST00000314583.3	-	12	1247	c.1156A>T	c.(1156-1158)Agg>Tgg	p.R386W	HCLS1_ENST00000428394.2_Missense_Mutation_p.R349W|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	386					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)	p.R386W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TGCTCATGCCTGTCCATCTCC	0.567																																							uc003eeh.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1156-1158)AGG>TGG		hematopoietic cell-specific Lyn substrate 1							247.0	231.0	237.0					3																	121351263		2203	4300	6503	SO:0001583	missense	3059				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:121351263T>A		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1156A>T	3.37:g.121351263T>A	ENSP00000320176:p.Arg386Trp					HCLS1_uc011bjj.1_Missense_Mutation_p.R349W|HCLS1_uc011bjk.1_RNA	p.R386W	NM_005335	NP_005326	P14317	HCLS1_HUMAN		GBM - Glioblastoma multiforme(114;0.0912)	12	1281	-			386					B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	ENST00000314583.3	37	c.1156A>T	CCDS3003.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.648413	0.67358	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.21361	2.02;2.01	5.28	0.0483	0.14284	.	2.681230	0.00610	N	0.000410	T	0.20251	0.0487	L	0.40543	1.245	0.09310	N	1	P;P	0.52463	0.953;0.953	B;B	0.43754	0.43;0.43	T	0.14448	-1.0472	10	0.52906	T	0.07	-1.7806	4.3041	0.10938	0.0:0.2052:0.3634:0.4314	.	349;386	E7EVW7;P14317	.;HCLS1_HUMAN	W	386;349	ENSP00000320176:R386W;ENSP00000387645:R349W	ENSP00000320176:R386W	R	-	1	2	HCLS1	122833953	0.001000	0.12720	0.000000	0.03702	0.726000	0.41606	0.537000	0.23144	-0.112000	0.11979	0.533000	0.62120	AGG		0.567	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335		43	247	0	0	0	0.00361	0	43	247				
SEMA5B	54437	broad.mit.edu	37	3	122646762	122646762	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:122646762G>A	ENST00000357599.3	-	8	1111	c.725C>T	c.(724-726)tCc>tTc	p.S242F	AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000195173.4_Missense_Mutation_p.S242F|SEMA5B_ENST00000451055.2_Missense_Mutation_p.S296F	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	242	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S296F(1)|p.S242F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCCCTGGGAGGAGATGACAGC	0.627																																							uc003efz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(724-726)TCC>TTC		semaphorin 5B isoform 1							96.0	91.0	93.0					3																	122646762		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122646762G>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.725C>T	3.37:g.122646762G>A	ENSP00000350215:p.Ser242Phe					SEMA5B_uc011bju.1_Missense_Mutation_p.S184F|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.S242F|SEMA5B_uc010hro.1_Missense_Mutation_p.S184F|SEMA5B_uc010hrp.1_RNA	p.S242F	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	8	1029	-			242			Extracellular (Potential).|Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.725C>T	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	G	35	5.461721	0.96240	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.054334	0.64402	D	0.000001	T	0.31482	0.0798	N	0.25992	0.78	0.54753	D	0.999988	P;P;P	0.52463	0.942;0.953;0.953	P;P;P	0.56865	0.708;0.808;0.808	T	0.01401	-1.1364	10	0.72032	D	0.01	.	18.891	0.92403	0.0:0.0:1.0:0.0	.	184;242;242	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	F	242;242;184;296;242	ENSP00000350215:S242F;ENSP00000195173:S242F;ENSP00000389588:S296F;ENSP00000377208:S242F	ENSP00000195173:S242F	S	-	2	0	SEMA5B	124129452	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.941000	0.99782	0.655000	0.94253	TCC		0.627	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		6	87	0	0	0	0.001984	0	6	87				
HEG1	57493	broad.mit.edu	37	3	124731533	124731533	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:124731533T>A	ENST00000311127.4	-	6	2957	c.2890A>T	c.(2890-2892)Aaa>Taa	p.K964*	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	964					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.K964*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTGGCAGATTTGGGAGCCAAG	0.517																																							uc003ehs.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(2890-2892)AAA>TAA		HEG homolog 1 precursor							101.0	117.0	112.0					3																	124731533		2088	4228	6316	SO:0001587	stop_gained	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124731533T>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2890A>T	3.37:g.124731533T>A	ENSP00000311502:p.Lys964*					HEG1_uc011bke.1_Nonsense_Mutation_p.K1064*	p.K964*	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			6	2958	-			964			Extracellular (Potential).		Q6NX66|Q8NC40|Q9BSV0	Nonsense_Mutation	SNP	ENST00000311127.4	37	c.2890A>T	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	T	36	5.727106	0.96847	.	.	ENSG00000173706	ENST00000311127	.	.	.	4.78	-9.56	0.00566	.	2.291020	0.02537	U	0.094219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.5039	0.04640	0.2119:0.1352:0.4342:0.2187	.	.	.	.	X	964	.	ENSP00000311502:K964X	K	-	1	0	HEG1	126214223	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-0.656000	0.05342	-2.078000	0.00872	-0.250000	0.11733	AAA		0.517	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		10	34	0	0	0	0.008291	0	10	34				
NEK11	79858	broad.mit.edu	37	3	130873949	130873949	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:130873949C>T	ENST00000383366.4	+	10	1239	c.946C>T	c.(946-948)Cat>Tat	p.H316Y	NEK11_ENST00000356918.4_Missense_Mutation_p.H316Y|NEK11_ENST00000511262.1_Missense_Mutation_p.H316Y|NEK11_ENST00000510769.1_Intron|NEK11_ENST00000429253.2_Missense_Mutation_p.H316Y|NEK11_ENST00000412440.2_Missense_Mutation_p.H168Y|NEK11_ENST00000507910.1_Missense_Mutation_p.H316Y|NEK11_ENST00000510688.1_Missense_Mutation_p.H316Y|NEK11_ENST00000508196.1_Missense_Mutation_p.H316Y	NM_024800.4	NP_079076.3			NIMA-related kinase 11									p.H316Y(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GGAGGCTGCTCATATAATTAA	0.308																																							uc003eny.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(4)|stomach(1)|central_nervous_system(1)	6						c.(946-948)CAT>TAT		NIMA-related kinase 11 isoform 1							105.0	114.0	111.0					3																	130873949		2203	4300	6503	SO:0001583	missense	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130873949C>T	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000383366.4:c.946C>T	3.37:g.130873949C>T	ENSP00000372857:p.His316Tyr					NEK11_uc003enx.2_Missense_Mutation_p.H316Y|NEK11_uc003eoa.2_Missense_Mutation_p.H316Y|NEK11_uc003enz.2_Missense_Mutation_p.H134Y|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_Missense_Mutation_p.H168Y|NEK11_uc011bll.1_Intron|NEK11_uc011blm.1_Missense_Mutation_p.H316Y	p.H316Y	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN			10	1272	+			316						Missense_Mutation	SNP	ENST00000383366.4	37	c.946C>T	CCDS3069.1	.	.	.	.	.	.	.	.	.	.	C	8.810	0.934988	0.18206	.	.	ENSG00000114670	ENST00000429253;ENST00000356918;ENST00000510688;ENST00000511262;ENST00000383366;ENST00000412440;ENST00000507910;ENST00000508196	T;T;T;T;T;T;T;T	0.72394	-0.35;-0.47;-0.38;-0.47;-0.35;-0.65;-0.47;-0.35	5.51	4.62	0.57501	.	0.664334	0.13797	N	0.362116	T	0.59183	0.2175	L	0.28115	0.83	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.001;0.002;0.001;0.001	B;B;B;B;B	0.06405	0.002;0.001;0.002;0.001;0.002	T	0.52924	-0.8510	10	0.52906	T	0.07	.	12.1832	0.54223	0.0:0.9157:0.0:0.0843	.	316;168;316;316;316	Q8NG66-3;B4DDN2;Q8NG66-4;Q8NG66;Q8NG66-2	.;.;.;NEK11_HUMAN;.	Y	316;316;316;316;316;168;316;316	ENSP00000397180:H316Y;ENSP00000349389:H316Y;ENSP00000423458:H316Y;ENSP00000425114:H316Y;ENSP00000372857:H316Y;ENSP00000411888:H168Y;ENSP00000426662:H316Y;ENSP00000421851:H316Y	ENSP00000349389:H316Y	H	+	1	0	NEK11	132356639	0.875000	0.30112	0.005000	0.12908	0.749000	0.42624	1.018000	0.30002	1.276000	0.44395	0.549000	0.68633	CAT		0.308	NEK11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356755.1	NM_024800		9	47	0	0	0	0.004482	0	9	47				
DZIP1L	199221	broad.mit.edu	37	3	137783472	137783472	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:137783472G>A	ENST00000327532.2	-	15	2502	c.2140C>T	c.(2140-2142)Cag>Tag	p.Q714*		NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	714					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)	p.Q714*(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CATCCTACCTGAGGCTTCCTT	0.557																																							uc003erq.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2140-2142)CAG>TAG		DAZ interacting protein 1-like							143.0	157.0	152.0					3																	137783472		2203	4300	6503	SO:0001587	stop_gained	199221					intracellular	zinc ion binding	g.chr3:137783472G>A	AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.2140C>T	3.37:g.137783472G>A	ENSP00000332148:p.Gln714*						p.Q714*	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN			15	2503	-			714					C9JUG5|Q96M38	Nonsense_Mutation	SNP	ENST00000327532.2	37	c.2140C>T	CCDS3096.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.552926|8.552926	0.98861|0.98861	.|.	.|.	ENSG00000158163|ENSG00000158163	ENST00000327532|ENST00000486487	.|.	.|.	.|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.124982|.	0.34200|.	N|.	0.004163|.	.|T	.|0.69043	.|0.3067	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68146	.|-0.5486	.|4	0.20519|.	T|.	0.43|.	-15.9691|-15.9691	13.6785|13.6785	0.62469|0.62469	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	714|83	.|.	ENSP00000332148:Q714X|.	Q|S	-|-	1|2	0|0	DZIP1L|DZIP1L	139266162|139266162	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.809000|0.809000	0.45718|0.45718	4.387000|4.387000	0.59626|0.59626	2.279000|2.279000	0.76181|0.76181	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.557	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357548.1	NM_173543		34	227	0	0	0	0.005524	0	34	227				
TIPARP	25976	broad.mit.edu	37	3	156396125	156396125	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:156396125C>T	ENST00000461166.1	+	2	1227	c.639C>T	c.(637-639)gaC>gaT	p.D213D	TIPARP_ENST00000295924.7_Silent_p.D213D|TIPARP_ENST00000486483.1_Silent_p.D213D|TIPARP_ENST00000542783.1_Silent_p.D213D	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	213					androgen metabolic process (GO:0008209)|cellular response to organic cyclic compound (GO:0071407)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|multicellular organismal metabolic process (GO:0044236)|negative regulation of gene expression (GO:0010629)|nitrogen compound metabolic process (GO:0006807)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of protein catabolic process (GO:0045732)|post-embryonic development (GO:0009791)|protein ADP-ribosylation (GO:0006471)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculogenesis (GO:0001570)	nucleus (GO:0005634)	enhancer binding (GO:0035326)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.D213D(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCTTTCAGGACAAAAGTGAAG	0.423																																					Ovarian(171;276 1987 3319 6837 11197)	Ovarian(171;276 1987 3319 6837 11197)	uc003fav.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(637-639)GAC>GAT		TCDD-inducible poly(ADP-ribose) polymerase							87.0	90.0	89.0					3																	156396125		2203	4300	6503	SO:0001819	synonymous_variant	25976						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr3:156396125C>T	BX537965	CCDS3177.1	3q25.31	2011-06-22			ENSG00000163659	ENSG00000163659		"""Poly (ADP-ribose) polymerases"""	23696	protein-coding gene	gene with protein product		612480				12851707	Standard	NM_001184717		Approved	DKFZP434J214, DKFZp686N0351, DDF1, PARP7, PARP-7, PARP-1, pART14, RM1	uc021xgg.1	Q7Z3E1	OTTHUMG00000158646	ENST00000461166.1:c.639C>T	3.37:g.156396125C>T						LOC100287227_uc011boq.1_5'Flank|TIPARP_uc003faw.2_Silent_p.D213D	p.D213D	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		2	887	+			213					D3DNK6|Q68CY9|Q86VP4|Q9Y4P7	Silent	SNP	ENST00000461166.1	37	c.639C>T	CCDS3177.1																																																																																				0.423	TIPARP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351618.1	NM_015508		22	62	0	0	0	0.002299	0	22	62				
SI	6476	broad.mit.edu	37	3	164780173	164780173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:164780173G>A	ENST00000264382.3	-	9	1068	c.1006C>T	c.(1006-1008)Caa>Taa	p.Q336*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	336	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)	p.Q336*(1)		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)	TGATACTGTTGAACTACTTGT	0.323										HNSCC(35;0.089)																													uc003fei.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(1006-1008)CAA>TAA		sucrase-isomaltase	Acarbose(DB00284)						60.0	59.0	59.0					3																	164780173		2203	4296	6499	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.chr3:164780173G>A	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.1006C>T	3.37:g.164780173G>A	ENSP00000264382:p.Gln336*	HNSCC(35;0.089)					p.Q336*	NM_001041	NP_001032	P14410	SUIS_HUMAN			9	1068	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	336			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Nonsense_Mutation	SNP	ENST00000264382.3	37	c.1006C>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	37	6.344226	0.97489	.	.	ENSG00000090402	ENST00000264382	.	.	.	5.34	3.38	0.38709	.	0.343990	0.35320	N	0.003290	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	12.7457	0.57280	0.0:0.0:0.5756:0.4244	.	.	.	.	X	336	.	ENSP00000264382:Q336X	Q	-	1	0	SI	166262867	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	3.734000	0.55037	1.197000	0.43143	0.585000	0.79938	CAA		0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		10	60	0	0	0	0.008291	0	10	60				
SAMD7	344658	broad.mit.edu	37	3	169644836	169644836	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:169644836C>A	ENST00000428432.2	+	6	1175	c.786C>A	c.(784-786)ccC>ccA	p.P262P	SAMD7_ENST00000335556.3_Silent_p.P262P	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	262										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			ATAGGAAACCCTGGGGGTCTC	0.527																																							uc003fgd.2		NA																	0				skin(1)	1						c.(784-786)CCC>CCA		sterile alpha motif domain containing 7							74.0	75.0	75.0					3																	169644836		2203	4300	6503	SO:0001819	synonymous_variant	344658							g.chr3:169644836C>A	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.786C>A	3.37:g.169644836C>A						SAMD7_uc003fge.2_Silent_p.P262P|SAMD7_uc011bpo.1_Silent_p.P163P	p.P262P	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		6	1053	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		262						Silent	SNP	ENST00000428432.2	37	c.786C>A	CCDS3209.1																																																																																				0.527	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	NM_182610		8	64	1	0	0.00448238	0.004482	0.00478609	8	64				
MUC4	4585	broad.mit.edu	37	3	195475820	195475820	+	Silent	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:195475820A>G	ENST00000346145.4	-	23	3318	c.3279T>C	c.(3277-3279)tgT>tgC	p.C1093C	MUC4_ENST00000463781.3_Silent_p.C5329C|MUC4_ENST00000349607.4_Silent_p.C1042C|MUC4_ENST00000475231.1_Silent_p.C5277C	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2086					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.C5201C(1)|p.C1093C(1)|p.C5329C(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTCCATGGTCACAGTAGCCCC	0.637																																							uc011bto.1		NA																	3	Substitution - coding silent(3)		lung(3)		0						c.(15601-15603)TGT>TGC		mucin 4 isoform a							65.0	59.0	61.0					3																	195475820		2203	4300	6503	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195475820A>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.3279T>C	3.37:g.195475820A>G						MUC4_uc010hzq.2_Silent_p.C186C|MUC4_uc003fuz.2_Silent_p.C927C|MUC4_uc003fva.2_Silent_p.C809C|MUC4_uc003fvb.2_Silent_p.C845C|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.C845C|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.C809C|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.C893C|MUC4_uc011bti.1_Silent_p.C893C|MUC4_uc011btj.1_Silent_p.C1070C|MUC4_uc011btk.1_Silent_p.C809C|MUC4_uc011btl.1_Silent_p.C838C|MUC4_uc011btm.1_Silent_p.C1018C|MUC4_uc011btn.1_Silent_p.C809C|MUC4_uc003fvo.2_Silent_p.C1093C|MUC4_uc003fvp.2_Silent_p.C1042C	p.C5201C	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	25	16063	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	2086			EGF-like 2.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000346145.4	37	c.15603T>C	CCDS3310.1																																																																																				0.637	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341862.1	NM_018406		6	91	0	0	0	0.001984	0	6	91				
SLIT2	9353	broad.mit.edu	37	4	20600010	20600010	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:20600010C>T	ENST00000504154.1	+	33	3936	c.3684C>T	c.(3682-3684)gcC>gcT	p.A1228A	SLIT2_ENST00000273739.5_Silent_p.A1241A|SLIT2_ENST00000503823.1_Silent_p.A1220A|SLIT2_ENST00000503837.1_Silent_p.A1224A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1228	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)	p.A1228A(1)		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						CAGCTTCTGCCATTTACAGGT	0.453																																							uc003gpr.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(3682-3684)GCC>GCT		slit homolog 2 precursor							114.0	115.0	115.0					4																	20600010		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:20600010C>T	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.3684C>T	4.37:g.20600010C>T						SLIT2_uc003gps.1_Silent_p.A1220A	p.A1228A	NM_004787	NP_004778	O94813	SLIT2_HUMAN			33	3888	+			1228			Laminin G-like.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.3684C>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	c	11.01	1.512233	0.27036	.	.	ENSG00000145147	ENST00000512993	.	.	.	5.4	4.54	0.55810	.	.	.	.	.	T	0.54791	0.1880	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53287	-0.8460	4	.	.	.	.	5.3794	0.16183	0.3495:0.5427:0.0:0.1078	.	.	.	.	L	12	.	.	P	+	2	0	SLIT2	20209108	0.963000	0.33076	1.000000	0.80357	0.987000	0.75469	0.130000	0.15850	1.366000	0.46076	0.650000	0.86243	CCA		0.453	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			21	122	0	0	0	0.002299	0	21	122				
GBA3	57733	broad.mit.edu	37	4	22748973	22748974	+	RNA	DNP	CC	CC	AT			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:22748973_22748974CC>AT	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.P114H(2)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGGTTACTCCCATTGTGACCC	0.376																																							uc003gqp.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(340-342)CCC>CAT		cytosolic beta-glucosidase isoform a																																						57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22748973_22748974CC>AT	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448	Exception_encountered	4.37:g.22748973_22748974delinsAT						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.P115H	p.P114H	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	432_433	+			114					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	DNP	ENST00000503442.1	37	c.341_342CC>AT																																																																																					0.376	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			28	195	0	0	0	0.004672	0	28	195				
FAM114A1	92689	broad.mit.edu	37	4	38945163	38945163	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:38945163G>A	ENST00000358869.2	+	15	1853	c.1677G>A	c.(1675-1677)ttG>ttA	p.L559L	FAM114A1_ENST00000515037.1_Silent_p.L352L	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	559						cytoplasm (GO:0005737)		p.L559L(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCAGTTGTTTGAAAGCACAGC	0.522																																							uc003gtn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1675-1677)TTG>TTA		hypothetical protein LOC92689							108.0	87.0	94.0					4																	38945163		2203	4300	6503	SO:0001819	synonymous_variant	92689					cytoplasm		g.chr4:38945163G>A		CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.1677G>A	4.37:g.38945163G>A						FAM114A1_uc011byh.1_Silent_p.L352L|FAM114A1_uc010ifi.2_Silent_p.L217L	p.L559L	NM_138389	NP_612398	Q8IWE2	NXP20_HUMAN			15	1853	+			559					A8K9W6|Q6MZV4|Q9BVL6	Silent	SNP	ENST00000358869.2	37	c.1677G>A	CCDS3447.1																																																																																				0.522	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	NM_138389		12	69	0	0	0	0.000978	0	12	69				
RFC1	5981	broad.mit.edu	37	4	39291474	39291474	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:39291474C>G	ENST00000381897.1	-	24	3490	c.3357G>C	c.(3355-3357)atG>atC	p.M1119I	RFC1_ENST00000349703.2_Missense_Mutation_p.M1118I	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1119					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.M1119I(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTACCTTGATCATGGCATCAG	0.398																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	uc003gty.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(3355-3357)ATG>ATC		replication factor C large subunit							170.0	169.0	170.0					4																	39291474		2203	4300	6503	SO:0001583	missense	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39291474C>G	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.3357G>C	4.37:g.39291474C>G	ENSP00000371321:p.Met1119Ile					RFC1_uc003gtx.1_Missense_Mutation_p.M1118I	p.M1119I	NM_002913	NP_002904	P35251	RFC1_HUMAN			24	3491	-			1119					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	c.3357G>C	CCDS56329.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.665107|4.665107	0.88251|0.88251	.|.	.|.	ENSG00000035928|ENSG00000035928	ENST00000514572|ENST00000381897;ENST00000349703	.|T;T	.|0.12774	.|2.65;2.66	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.39937|0.39937	0.1097|0.1097	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|D;D	.|0.71674	.|0.997;0.998	.|D;D	.|0.79784	.|0.985;0.993	T|T	0.02417|0.02417	-1.1162|-1.1162	5|10	.|0.46703	.|T	.|0.11	-22.6717|-22.6717	20.1218|20.1218	0.97964|0.97964	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1119;1118	.|P35251;P35251-2	.|RFC1_HUMAN;.	H|I	96|1119;1118	.|ENSP00000371321:M1119I;ENSP00000261424:M1118I	.|ENSP00000261424:M1118I	D|M	-|-	1|3	0|0	RFC1|RFC1	38967869|38967869	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.671000|0.671000	0.39405|0.39405	7.453000|7.453000	0.80700|0.80700	2.763000|2.763000	0.94921|0.94921	0.561000|0.561000	0.74099|0.74099	GAT|ATG		0.398	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		19	134	0	0	0	0.008871	0	19	134				
LIMCH1	22998	broad.mit.edu	37	4	41687770	41687770	+	Silent	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:41687770A>T	ENST00000313860.7	+	23	2913	c.2859A>T	c.(2857-2859)tcA>tcT	p.S953S	LIMCH1_ENST00000511496.1_Silent_p.S793S|LIMCH1_ENST00000512820.1_Silent_p.S965S|LIMCH1_ENST00000503057.1_Silent_p.S1337S|LIMCH1_ENST00000509277.1_Silent_p.S786S|LIMCH1_ENST00000508501.1_Silent_p.S952S|LIMCH1_ENST00000381753.4_Silent_p.S786S|LIMCH1_ENST00000513024.1_Silent_p.S806S|LIMCH1_ENST00000512632.1_Silent_p.S876S|LIMCH1_ENST00000396595.3_Silent_p.S798S|LIMCH1_ENST00000512946.1_Silent_p.S953S|LIMCH1_ENST00000514096.1_Silent_p.S793S	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	953					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.S953S(1)|p.S1337S(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CGCACAGTTCAGAAGATGTGA	0.443																																							uc003gvu.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(2857-2859)TCA>TCT		LIM and calponin homology domains 1 isoform a							119.0	103.0	109.0					4																	41687770		2203	4300	6503	SO:0001819	synonymous_variant	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41687770A>T	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.2859A>T	4.37:g.41687770A>T						LIMCH1_uc003gvv.3_Silent_p.S953S|LIMCH1_uc003gvw.3_Silent_p.S952S|LIMCH1_uc003gvx.3_Silent_p.S965S|LIMCH1_uc003gwe.3_Silent_p.S876S|LIMCH1_uc003gvy.3_Silent_p.S781S|LIMCH1_uc003gwa.3_Silent_p.S793S|LIMCH1_uc003gvz.3_Silent_p.S1337S|LIMCH1_uc011byu.1_Silent_p.S786S|LIMCH1_uc003gwc.3_Silent_p.S798S|LIMCH1_uc003gwd.3_Silent_p.S786S|LIMCH1_uc011byv.1_Silent_p.S703S|LIMCH1_uc011byw.1_Silent_p.S252S	p.S953S	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN			23	2913	+			953					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Silent	SNP	ENST00000313860.7	37	c.2859A>T	CCDS33977.1	.	.	.	.	.	.	.	.	.	.	A	5.216	0.225313	0.09916	.	.	ENSG00000064042	ENST00000508466	.	.	.	5.51	-2.86	0.05717	.	.	.	.	.	T	0.35595	0.0937	.	.	.	0.33566	D	0.598033	.	.	.	.	.	.	T	0.45264	-0.9273	4	.	.	.	0.231	5.5502	0.17086	0.4187:0.0:0.4337:0.1476	.	.	.	.	L	787	.	.	Q	+	2	0	LIMCH1	41382527	0.428000	0.25522	0.013000	0.15412	0.002000	0.02628	0.532000	0.23067	-0.623000	0.05618	-0.441000	0.05720	CAG		0.443	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988		6	52	0	0	0	0.001984	0	6	52				
WDFY3	23001	broad.mit.edu	37	4	85738544	85738544	+	Splice_Site	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:85738544C>A	ENST00000295888.4	-	13	2295		c.e13+1		WDFY3_ENST00000322366.6_Splice_Site	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3						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)	p.?(1)		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)		ATCAAACTTACCCTTAAAATA	0.398																																							uc003hpd.2		NA																	1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.e13+1		WD repeat and FYVE domain containing 3 isoform							108.0	115.0	112.0					4																	85738544		2203	4300	6503	SO:0001630	splice_region_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85738544C>A	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.1887+1G>T	4.37:g.85738544C>A						WDFY3_uc003hpf.2_Splice_Site_p.R629_splice	p.R629_splice	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	13	2295	-		Hepatocellular(203;0.114)						Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Splice_Site	SNP	ENST00000295888.4	37	c.1887_splice	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624889	0.87560	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8108	0.96545	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDFY3	85957568	1.000000	0.71417	0.999000	0.59377	0.932000	0.56968	7.293000	0.78740	2.698000	0.92095	0.563000	0.77884	.		0.398	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	Intron	26	181	1	0	3.28513e-13	0.003954	4.56323e-13	26	181				
HERC3	8916	broad.mit.edu	37	4	89574133	89574133	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:89574133G>T	ENST00000402738.1	+	6	816	c.577G>T	c.(577-579)Gct>Tct	p.A193S	HERC3_ENST00000264345.3_Missense_Mutation_p.A193S|HERC3_ENST00000407637.1_Missense_Mutation_p.A193S	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	193					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A193S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GATCCCACTGGCTCAGGTGGC	0.617																																							uc003hrw.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|prostate(1)|skin(1)	4						c.(577-579)GCT>TCT		hect domain and RLD 3							55.0	63.0	60.0					4																	89574133		2203	4300	6503	SO:0001583	missense	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89574133G>T	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.577G>T	4.37:g.89574133G>T	ENSP00000385684:p.Ala193Ser					HERC3_uc003hrv.2_Missense_Mutation_p.A193S|HERC3_uc011cdn.1_Missense_Mutation_p.A75S	p.A193S	NM_014606	NP_055421	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	6	743	+			193			RCC1 4.		A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	c.577G>T	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	g	18.60	3.658461	0.67586	.	.	ENSG00000138641	ENST00000402738;ENST00000407637;ENST00000452979;ENST00000264345	D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84	5.09	5.09	0.68999	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.120317	0.56097	D	0.000032	T	0.80319	0.4601	N	0.11106	0.095	0.80722	D	1	B;P	0.49559	0.11;0.925	B;P	0.49922	0.217;0.626	T	0.81645	-0.0839	10	0.37606	T	0.19	.	18.677	0.91532	0.0:0.0:1.0:0.0	.	193;193	Q15034;Q8IXX3	HERC3_HUMAN;.	S	193	ENSP00000385684:A193S;ENSP00000384005:A193S;ENSP00000406210:A193S;ENSP00000264345:A193S	ENSP00000264345:A193S	A	+	1	0	HERC3	89793156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.366000	0.79548	2.639000	0.89480	0.586000	0.80456	GCT		0.617	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		16	77	1	0	2.32078e-09	0.003163	3.0477e-09	16	77				
MMRN1	22915	broad.mit.edu	37	4	90857868	90857868	+	Missense_Mutation	SNP	G	G	T	rs372333120		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:90857868G>T	ENST00000394980.1	+	7	3356	c.3037G>T	c.(3037-3039)Gca>Tca	p.A1013S	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.A1013S|MMRN1_ENST00000508372.1_Missense_Mutation_p.A755S			Q13201	MMRN1_HUMAN	multimerin 1	1013					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.A1013S(1)|p.A1013T(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GAAAATTAACGCACTTAAGAA	0.383																																							uc003hst.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(4)	4						c.(3037-3039)GCA>TCA		multimerin 1							59.0	64.0	63.0					4																	90857868		2184	4267	6451	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857868G>T	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3037G>T	4.37:g.90857868G>T	ENSP00000378431:p.Ala1013Ser					MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.A755S	p.A1013S	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	3108	+		Hepatocellular(203;0.114)	1013					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.3037G>T	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.230485	0.00280	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.65732	0.17;0.17;-0.17	4.96	1.02	0.19986	.	0.755923	0.12227	N	0.487838	T	0.25082	0.0609	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18461	-1.0336	10	0.09338	T	0.73	.	1.3357	0.02144	0.4593:0.1726:0.2438:0.1243	.	1013	Q13201	MMRN1_HUMAN	S	1013;1013;755	ENSP00000378431:A1013S;ENSP00000264790:A1013S;ENSP00000426461:A755S	ENSP00000264790:A1013S	A	+	1	0	MMRN1	91076891	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.632000	0.05489	0.089000	0.17243	-0.946000	0.02672	GCA		0.383	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		15	88	1	0	1.15088e-07	0.004007	1.45693e-07	15	88				
ADH4	127	broad.mit.edu	37	4	100062826	100062826	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:100062826G>T	ENST00000265512.7	-	3	202	c.128C>A	c.(127-129)gCt>gAt	p.A43D	ADH4_ENST00000508393.1_Missense_Mutation_p.A62D|ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000423445.1_Missense_Mutation_p.A62D|ADH4_ENST00000505590.1_Missense_Mutation_p.A62D|RP11-696N14.1_ENST00000500358.2_RNA	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	43					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)	p.A43D(1)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		CAGAGAGGTAGCAATGATCTA	0.398																																							uc003hun.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(127-129)GCT>GAT		class II alcohol dehydrogenase, pi subunit	NADH(DB00157)						119.0	102.0	108.0					4																	100062826		2203	4300	6503	SO:0001583	missense	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100062826G>T	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.128C>A	4.37:g.100062826G>T	ENSP00000265512:p.Ala43Asp					uc003hum.1_Intron|ADH4_uc011ced.1_Missense_Mutation_p.A62D	p.A43D	NM_000670	NP_000661	P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	3	204	-			43					A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	c.128C>A	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944563	0.73672	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590;ENST00000512499;ENST00000504125	T;T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28;3.28	4.01	4.01	0.46588	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.64402	D	0.000002	T	0.44582	0.1300	H	0.99487	4.59	0.80722	D	1	D;D	0.76494	0.961;0.999	P;D	0.76575	0.631;0.988	T	0.71090	-0.4693	10	0.54805	T	0.06	-0.2588	16.7128	0.85389	0.0:0.0:1.0:0.0	.	62;43	P08319-2;P08319	.;ADH4_HUMAN	D	62;43;62;62;62;43	ENSP00000424630:A62D;ENSP00000265512:A43D;ENSP00000397939:A62D;ENSP00000425416:A62D;ENSP00000423571:A62D;ENSP00000427525:A43D	ENSP00000265512:A43D	A	-	2	0	ADH4	100281849	1.000000	0.71417	0.057000	0.19452	0.003000	0.03518	7.697000	0.84279	2.228000	0.72767	0.563000	0.77884	GCT		0.398	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		7	29	1	0	0.00307968	0.00308	0.00330379	7	29				
DKK2	27123	broad.mit.edu	37	4	107846973	107846973	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:107846973C>A	ENST00000285311.3	-	2	1061	c.356G>T	c.(355-357)aGt>aTt	p.S119I	DKK2_ENST00000510463.1_Missense_Mutation_p.S73I|DKK2_ENST00000513208.1_Missense_Mutation_p.S19I	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	119	DKK-type Cys-1.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.S119I(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCAGCGGGTACTGGGGCAGCA	0.502																																							uc003hyi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(355-357)AGT>ATT		dickkopf homolog 2 precursor							163.0	155.0	158.0					4																	107846973		2203	4300	6503	SO:0001583	missense	27123				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		g.chr4:107846973C>A	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.356G>T	4.37:g.107846973C>A	ENSP00000285311:p.Ser119Ile					DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Missense_Mutation_p.S119I	p.S119I	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)	2	1061	-		Hepatocellular(203;0.217)	119			DKK-type Cys-1.		A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	c.356G>T	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842699	0.51057	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.44881	0.93;0.91;0.92	5.42	4.56	0.56223	Dickkopf, N-terminal cysteine-rich (1);	0.152723	0.64402	D	0.000018	T	0.29355	0.0731	N	0.08118	0	0.22354	N	0.999174	B;B	0.24576	0.106;0.008	B;B	0.30782	0.12;0.029	T	0.37865	-0.9687	10	0.87932	D	0	-5.1229	16.3423	0.83085	0.0:0.8677:0.1323:0.0	.	119;119	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	I	119;19;73	ENSP00000285311:S119I;ENSP00000421255:S19I;ENSP00000423797:S73I	ENSP00000285311:S119I	S	-	2	0	DKK2	108066422	0.993000	0.37304	0.382000	0.26119	0.684000	0.39900	5.678000	0.68153	1.375000	0.46248	0.467000	0.42956	AGT		0.502	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4			28	184	1	0	3.69857e-22	0.008361	5.56002e-22	28	184				
LRIT3	345193	broad.mit.edu	37	4	110790971	110790971	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:110790971G>C	ENST00000594814.1	+	4	1066	c.1066G>C	c.(1066-1068)Gac>Cac	p.D356H	LRIT3_ENST00000409621.2_Missense_Mutation_p.D173H|LRIT3_ENST00000379920.3_Missense_Mutation_p.D311H|LRIT3_ENST00000327908.3_Missense_Mutation_p.D173H	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	356					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.D311H(1)|p.D173H(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AATACCACCAGACACTTCTGA	0.478																																							uc003hzx.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(931-933)GAC>CAC		leucine-rich repeat, immunoglobulin-like and							197.0	187.0	191.0					4																	110790971		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110790971G>C	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1066G>C	4.37:g.110790971G>C	ENSP00000469759:p.Asp356His					LRIT3_uc003hzw.3_Missense_Mutation_p.D173H	p.D311H	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	3	1124	+			311					C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.931G>C	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	G	1.796	-0.478255	0.04414	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.59364	0.27;0.48;0.27	5.18	3.34	0.38264	.	0.979230	0.08422	N	0.948197	T	0.47377	0.1442	L	0.36672	1.1	0.09310	N	1	B;B	0.23854	0.007;0.092	B;B	0.17722	0.009;0.019	T	0.33752	-0.9856	10	0.35671	T	0.21	.	9.7654	0.40557	0.0927:0.2668:0.6404:0.0	.	311;173	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	H	173;311;173	ENSP00000328222:D173H;ENSP00000369252:D311H;ENSP00000386734:D173H	ENSP00000328222:D173H	D	+	1	0	LRIT3	111010420	0.969000	0.33509	0.086000	0.20670	0.004000	0.04260	3.384000	0.52478	1.178000	0.42870	-0.150000	0.13652	GAC		0.478	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		38	213	0	0	0	0.004878	0	38	213				
KIAA1109	84162	broad.mit.edu	37	4	123140583	123140583	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:123140583C>G	ENST00000264501.4	+	21	2709	c.2336C>G	c.(2335-2337)tCt>tGt	p.S779C	KIAA1109_ENST00000455637.1_Missense_Mutation_p.S779C|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S779C|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	779	Poly-Ser.				regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S779C(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCATCCAGCTCTGGGTGGACT	0.393																																							uc003ieh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(2335-2337)TCT>TGT		fragile site-associated protein							194.0	182.0	186.0					4																	123140583		1877	4123	6000	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123140583C>G	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2336C>G	4.37:g.123140583C>G	ENSP00000264501:p.Ser779Cys					KIAA1109_uc003iei.1_Missense_Mutation_p.S533C|KIAA1109_uc010ins.1_Missense_Mutation_p.S123C|KIAA1109_uc003iej.1_Missense_Mutation_p.S164C	p.S779C	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			19	2381	+			779			Poly-Ser.		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.2336C>G	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390101	0.42410	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.25912	2.38;2.38;1.77	5.74	5.74	0.90152	.	7739.210000	0.00166	N	0.000000	T	0.55513	0.1925	L	0.55990	1.75	0.40669	D	0.982194	D;D	0.76494	0.999;0.976	D;P	0.65443	0.935;0.628	T	0.31364	-0.9946	10	0.52906	T	0.07	.	19.9089	0.97019	0.0:1.0:0.0:0.0	.	779;779	Q2LD37-5;Q2LD37	.;K1109_HUMAN	C	779	ENSP00000264501:S779C;ENSP00000373390:S779C;ENSP00000389925:S779C	ENSP00000264501:S779C	S	+	2	0	KIAA1109	123360033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.878000	0.69682	2.709000	0.92574	0.591000	0.81541	TCT		0.393	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		26	118	0	0	0	0.004656	0	26	118				
CCRN4L	25819	broad.mit.edu	37	4	139966314	139966314	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:139966314G>C	ENST00000280614.2	+	3	1175	c.982G>C	c.(982-984)Gag>Cag	p.E328Q	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	328					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E328Q(1)		kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					CTTCAATGCAGAGCCAACAGA	0.522																																					Ovarian(144;566 1842 19130 21379 22209)	Ovarian(144;566 1842 19130 21379 22209)	uc003ihl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(982-984)GAG>CAG		CCR4 carbon catabolite repression 4-like							57.0	56.0	56.0					4																	139966314		2203	4300	6503	SO:0001583	missense	25819				rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:139966314G>C	AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"""CCR4-like (carbon catabolite repression 4, S.cerevisiae)"""			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.982G>C	4.37:g.139966314G>C	ENSP00000280614:p.Glu328Gln						p.E328Q	NM_012118	NP_036250	Q9UK39	NOCT_HUMAN			3	1175	+	all_hematologic(180;0.162)		328					D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Missense_Mutation	SNP	ENST00000280614.2	37	c.982G>C	CCDS3743.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413046	0.62511	.	.	ENSG00000151014	ENST00000280614	T	0.80566	-1.39	5.48	5.48	0.80851	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.78039	0.4221	L	0.28115	0.83	0.80722	D	1	P	0.50066	0.931	P	0.49252	0.604	T	0.76091	-0.3086	9	.	.	.	-22.8136	19.3328	0.94299	0.0:0.0:1.0:0.0	.	328	Q9UK39	NOCT_HUMAN	Q	328	ENSP00000280614:E328Q	.	E	+	1	0	CCRN4L	140185764	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	7.975000	0.88055	2.589000	0.87451	0.484000	0.47621	GAG		0.522	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257231.3	NM_012118		7	47	0	0	0	0.001984	0	7	47				
GALNTL6	442117	broad.mit.edu	37	4	173734719	173734719	+	Silent	SNP	C	C	A	rs377470374		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:173734719C>A	ENST00000506823.1	+	7	1425	c.768C>A	c.(766-768)atC>atA	p.I256I	GALNTL6_ENST00000508122.1_Silent_p.I239I	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	256					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)	p.I256I(1)		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						ACAAAACCATCGTGTGTCCCA	0.443																																							uc003isv.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(766-768)ATC>ATA		N-acetylgalactosaminyltransferase-like 6							110.0	93.0	99.0					4																	173734719		2203	4300	6503	SO:0001819	synonymous_variant	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173734719C>A		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.768C>A	4.37:g.173734719C>A							p.I256I	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			7	1504	+			256			Lumenal (Potential).		Q2L4S6	Silent	SNP	ENST00000506823.1	37	c.768C>A	CCDS34104.1																																																																																				0.443	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		10	69	1	0	3.07112e-06	0.000978	3.66449e-06	10	69				
ADAM29	11086	broad.mit.edu	37	4	175898086	175898086	+	Silent	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:175898086T>A	ENST00000359240.3	+	5	2080	c.1410T>A	c.(1408-1410)ggT>ggA	p.G470G	ADAM29_ENST00000445694.1_Silent_p.G470G|ADAM29_ENST00000404450.4_Silent_p.G470G|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Silent_p.G470G	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	470	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G470G(1)		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)		GGTGCAATGGTACTTCCCATA	0.458																																					Ovarian(140;1727 1835 21805 25838 41440)	Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(1408-1410)GGT>GGA		ADAM metallopeptidase domain 29 preproprotein							116.0	106.0	109.0					4																	175898086		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898086T>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.1410T>A	4.37:g.175898086T>A						ADAM29_uc003iud.2_Silent_p.G470G|ADAM29_uc010irr.2_Silent_p.G470G|ADAM29_uc011cki.1_Silent_p.G470G	p.G470G	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	2080	+		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)	470			Disintegrin.|Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.1410T>A	CCDS3823.1																																																																																				0.458	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				23	120	0	0	0	0.00278	0	23	120				
SNX25	83891	broad.mit.edu	37	4	186231881	186231881	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr4:186231881G>C	ENST00000504273.1	+	7	1057	c.763G>C	c.(763-765)Gag>Cag	p.E255Q	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.E255Q			Q9H3E2	SNX25_HUMAN	sorting nexin 25	255					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.E255Q(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		GAAGCAGTGTGAGAAGAGAAT	0.512																																							uc003ixh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(763-765)GAG>CAG		sorting nexin 25							64.0	64.0	64.0					4																	186231881		2203	4297	6500	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186231881G>C	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.763G>C	4.37:g.186231881G>C	ENSP00000426255:p.Glu255Gln					SNX25_uc010ish.2_Missense_Mutation_p.E26Q	p.E255Q	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	7	952	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	255					Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.763G>C	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950206	0.92660	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.16324	2.35;2.35	5.7	5.7	0.88788	.	0.115633	0.64402	D	0.000019	T	0.45776	0.1359	M	0.77313	2.365	0.48901	D	0.999728	D;D	0.76494	0.999;0.986	D;P	0.81914	0.995;0.638	T	0.20840	-1.0263	10	0.38643	T	0.18	-10.7014	19.843	0.96697	0.0:0.0:1.0:0.0	.	26;255	Q8N6K3;Q9H3E2	.;SNX25_HUMAN	Q	255	ENSP00000426255:E255Q;ENSP00000264694:E255Q	ENSP00000264694:E255Q	E	+	1	0	SNX25	186468875	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.679000	0.91253	0.655000	0.94253	GAG		0.512	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		9	51	0	0	0	0.004482	0	9	51				
SLC6A18	348932	broad.mit.edu	37	5	1225638	1225638	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:1225638G>T	ENST00000324642.3	+	1	169	c.46G>T	c.(46-48)Gat>Tat	p.D16Y	SLC6A18_ENST00000296821.4_Missense_Mutation_p.D16Y	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	16					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)	p.D16Y(1)		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)			CGACCTCGGGGATGAGAGGCC	0.642																																							uc003jby.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(46-48)GAT>TAT		solute carrier family 6, member 18							86.0	74.0	78.0					5																	1225638		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.chr5:1225638G>T	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.46G>T	5.37:g.1225638G>T	ENSP00000323549:p.Asp16Tyr						p.D16Y	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)		1	169	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		16			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000324642.3	37	c.46G>T	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070970	0.55646	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.75589	-0.95;-0.79	4.02	3.13	0.36017	.	0.562473	0.16611	N	0.206903	T	0.77678	0.4166	M	0.61703	1.905	0.21527	N	0.999654	P	0.52061	0.95	P	0.50617	0.646	T	0.69312	-0.5178	10	0.59425	D	0.04	.	13.0621	0.59012	0.0:0.0:0.8374:0.1626	.	16	Q96N87	S6A18_HUMAN	Y	16	ENSP00000323549:D16Y;ENSP00000296821:D16Y	ENSP00000296821:D16Y	D	+	1	0	SLC6A18	1278638	1.000000	0.71417	0.053000	0.19242	0.116000	0.19942	3.504000	0.53347	0.772000	0.33382	0.313000	0.20887	GAT		0.642	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		5	36	1	0	0.000157383	0.00308	0.000180261	5	36				
PAPD7	11044	broad.mit.edu	37	5	6743935	6743935	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:6743935G>A	ENST00000230859.6	+	6	606	c.477G>A	c.(475-477)atG>atA	p.M159I		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	389					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)	p.M159I(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TAATTTTAATGGCCATTAGCT	0.408																																					NSCLC(7;212 333 5667 23379 46547)	NSCLC(7;212 333 5667 23379 46547)	uc003jdx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(475-477)ATG>ATA		DNA polymerase sigma							155.0	160.0	158.0					5																	6743935		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6743935G>A	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.477G>A	5.37:g.6743935G>A	ENSP00000230859:p.Met159Ile					PAPD7_uc011cmn.1_Missense_Mutation_p.M150I|PAPD7_uc010itl.1_5'Flank	p.M159I	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN			6	606	+			159					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.477G>A	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177168	0.78564	.	.	ENSG00000112941	ENST00000230859	T	0.64260	-0.09	4.97	4.97	0.65823	.	0.039609	0.85682	D	0.000000	T	0.82190	0.4983	M	0.90595	3.13	0.80722	D	1	D;D	0.59357	0.985;0.985	P;P	0.62885	0.908;0.908	D	0.86128	0.1573	10	0.66056	D	0.02	-0.0621	18.6326	0.91366	0.0:0.0:1.0:0.0	.	159;159	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	I	159	ENSP00000230859:M159I	ENSP00000230859:M159I	M	+	3	0	PAPD7	6796935	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.208000	0.77907	2.461000	0.83175	0.655000	0.94253	ATG		0.408	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		31	104	0	0	0	0.003271	0	31	104				
CTNND2	1501	broad.mit.edu	37	5	11159692	11159692	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:11159692G>A	ENST00000304623.8	-	12	2344	c.2155C>T	c.(2155-2157)Cta>Tta	p.L719L	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.L628L|CTNND2_ENST00000503622.1_Silent_p.L382L|CTNND2_ENST00000359640.2_Silent_p.L719L|CTNND2_ENST00000458100.2_Silent_p.L286L	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	719					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L719L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACTGACCTTAGGCACCCGGTG	0.527																																							uc003jfa.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2155-2157)CTA>TTA		catenin (cadherin-associated protein), delta 2							151.0	132.0	139.0					5																	11159692		2203	4300	6503	SO:0001819	synonymous_variant	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11159692G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2155C>T	5.37:g.11159692G>A						CTNND2_uc010itt.2_Silent_p.L628L|CTNND2_uc011cmy.1_Silent_p.L382L|CTNND2_uc011cmz.1_Silent_p.L286L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.L286L	p.L719L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			12	2300	-			719			ARM 5.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Silent	SNP	ENST00000304623.8	37	c.2155C>T	CCDS3881.1																																																																																				0.527	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		22	89	0	0	0	0.002299	0	22	89				
CDH18	1016	broad.mit.edu	37	5	19473721	19473721	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:19473721C>A	ENST00000507958.1	-	15	2977	c.1987G>T	c.(1987-1989)Ggc>Tgc	p.G663C	CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000502796.1_3'UTR|CDH18_ENST00000274170.4_Missense_Mutation_p.G663C|CDH18_ENST00000382275.1_Missense_Mutation_p.G663C			Q13634	CAD18_HUMAN	cadherin 18, type 2	663					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G663C(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCCTCTCCGCCTCCTTCATCA	0.498																																							uc003jgc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1987-1989)GGC>TGC		cadherin 18, type 2 preproprotein							154.0	154.0	154.0					5																	19473721		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19473721C>A	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1987G>T	5.37:g.19473721C>A	ENSP00000425093:p.Gly663Cys					CDH18_uc003jgd.2_Missense_Mutation_p.G663C|CDH18_uc011cnm.1_3'UTR	p.G663C	NM_004934	NP_004925	Q13634	CAD18_HUMAN			12	2364	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		663			Cytoplasmic (Potential).		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1987G>T	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176639	0.57692	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	D;D;D	0.83075	-1.68;-1.68;-1.68	6.16	5.3	0.74995	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93572	0.7948	H	0.95224	3.64	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.95193	0.8310	9	.	.	.	.	14.2869	0.66251	0.0:0.9288:0.0:0.0712	.	663	Q13634	CAD18_HUMAN	C	663	ENSP00000371710:G663C;ENSP00000425093:G663C;ENSP00000274170:G663C	.	G	-	1	0	CDH18	19509478	1.000000	0.71417	0.480000	0.27341	0.238000	0.25445	7.813000	0.86123	1.628000	0.50416	0.650000	0.86243	GGC		0.498	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		86	221	1	0	3.77845e-26	0.00361	5.81397e-26	86	221				
CDH10	1008	broad.mit.edu	37	5	24491768	24491768	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:24491768C>A	ENST00000264463.4	-	11	2300	c.1793G>T	c.(1792-1794)tGc>tTc	p.C598F	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	598	Cadherin 5. {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)	p.C598F(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTCAGCACTGCAGGATTGCAT	0.522										HNSCC(23;0.051)																													uc003jgr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1792-1794)TGC>TTC		cadherin 10, type 2 preproprotein							145.0	127.0	133.0					5																	24491768		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24491768C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1793G>T	5.37:g.24491768C>A	ENSP00000264463:p.Cys598Phe	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.C598F	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	11	2125	-			598			Cadherin 5.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1793G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342748	0.82022	.	.	ENSG00000040731	ENST00000264463	T	0.60548	0.18	5.89	5.89	0.94794	Cadherin (1);	0.000000	0.85682	D	0.000000	D	0.83216	0.5206	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86755	0.1963	10	0.87932	D	0	.	19.2409	0.93883	0.0:1.0:0.0:0.0	.	598	Q9Y6N8	CAD10_HUMAN	F	598	ENSP00000264463:C598F	ENSP00000264463:C598F	C	-	2	0	CDH10	24527525	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	7.773000	0.85462	2.788000	0.95919	0.557000	0.71058	TGC		0.522	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		27	73	1	0	1.7367e-05	0.00632	2.04028e-05	27	73				
DROSHA	29102	broad.mit.edu	37	5	31410943	31410943	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:31410943C>A	ENST00000511367.2	-	30	3821	c.3577G>T	c.(3577-3579)Gag>Tag	p.E1193*	DROSHA_ENST00000513349.1_Nonsense_Mutation_p.E1156*|DROSHA_ENST00000344624.3_Nonsense_Mutation_p.E1193*|DROSHA_ENST00000442743.1_Nonsense_Mutation_p.E1156*	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1193	Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.E1193*(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ATGCCCAGCTCCTCCGCTACC	0.517																																							uc003jhg.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(3577-3579)GAG>TAG		ribonuclease III, nuclear isoform 1							138.0	144.0	142.0					5																	31410943		2036	4189	6225	SO:0001587	stop_gained	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31410943C>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3577G>T	5.37:g.31410943C>A	ENSP00000425979:p.Glu1193*					RNASEN_uc003jhh.2_Nonsense_Mutation_p.E1156*|RNASEN_uc003jhi.2_Nonsense_Mutation_p.E1156*	p.E1193*	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			30	3936	-			1193			Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Nonsense_Mutation	SNP	ENST00000511367.2	37	c.3577G>T	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	43	10.213635	0.99360	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-17.3019	19.075	0.93158	0.0:1.0:0.0:0.0	.	.	.	.	X	1193;1193;1156;1156;1118;1149	.	ENSP00000265075:E1118X	E	-	1	0	DROSHA	31446700	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.378000	0.79679	2.507000	0.84556	0.491000	0.48974	GAG		0.517	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		26	160	1	0	1.85244e-09	0.00333	2.43967e-09	26	160				
SPEF2	79925	broad.mit.edu	37	5	35670195	35670195	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:35670195G>A	ENST00000356031.3	+	10	1544	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	SPEF2_ENST00000440995.2_Missense_Mutation_p.E464K|SPEF2_ENST00000509059.1_Missense_Mutation_p.E464K|SPEF2_ENST00000282469.6_Missense_Mutation_p.E464K	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	464					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.E464K(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGATTGGAAGGAACTATTTTT	0.353																																							uc003jjo.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1390-1392)GAA>AAA		KPL2 protein isoform 1							134.0	140.0	138.0					5																	35670195		2203	4300	6503	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35670195G>A	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.1390G>A	5.37:g.35670195G>A	ENSP00000348314:p.Glu464Lys					SPEF2_uc003jjn.1_Missense_Mutation_p.E464K|SPEF2_uc003jjq.3_Missense_Mutation_p.E464K	p.E464K	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1501	+	all_lung(31;7.56e-05)		464					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.1390G>A	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	31	5.058409	0.93846	.	.	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000440995	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	M	0.78916	2.43	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.85130	0.985;0.994;0.997	T	0.44620	-0.9316	10	0.56958	D	0.05	.	18.8644	0.92285	0.0:0.0:1.0:0.0	.	464;464;464	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	K	464	ENSP00000282469:E464K;ENSP00000348314:E464K;ENSP00000421593:E464K;ENSP00000412125:E464K	ENSP00000282469:E464K	E	+	1	0	SPEF2	35705952	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.475000	0.73582	2.515000	0.84797	0.655000	0.94253	GAA		0.353	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		22	206	0	0	0	0.00333	0	22	206				
ITGA1	3672	broad.mit.edu	37	5	52183654	52183654	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:52183654G>T	ENST00000282588.6	+	8	1239	c.781G>T	c.(781-783)Gca>Tca	p.A261S		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	261	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				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)	p.A261S(1)		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)				TAGAAAGGAGGCATTCACGGA	0.398																																							uc003jou.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(781-783)GCA>TCA		integrin, alpha 1 precursor							86.0	86.0	86.0					5																	52183654		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52183654G>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.781G>T	5.37:g.52183654G>T	ENSP00000282588:p.Ala261Ser					ITGA1_uc003jov.2_RNA	p.A261S	NM_181501	NP_852478	P56199	ITA1_HUMAN			8	833	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	261			Extracellular (Potential).|VWFA.		B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.781G>T	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	G	34	5.386244	0.95967	.	.	ENSG00000213949	ENST00000282588	D	0.83419	-1.72	5.91	5.91	0.95273	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.87672	0.6236	L	0.33710	1.025	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86259	0.1654	10	0.41790	T	0.15	.	20.2963	0.98556	0.0:0.0:1.0:0.0	.	261	P56199	ITA1_HUMAN	S	261	ENSP00000282588:A261S	ENSP00000282588:A261S	A	+	1	0	ITGA1	52219411	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.517000	0.81783	2.813000	0.96785	0.655000	0.94253	GCA		0.398	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		11	26	1	0	3.07112e-06	0.000978	3.66449e-06	11	26				
ANKRD55	79722	broad.mit.edu	37	5	55396111	55396111	+	Missense_Mutation	SNP	G	G	A	rs143274111		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:55396111G>A	ENST00000341048.4	-	12	1895	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	ANKRD55_ENST00000504958.2_Missense_Mutation_p.R539W|ANKRD55_ENST00000434982.2_Missense_Mutation_p.R294W	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	582								p.R582W(1)		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)				CGGTTTGTCCGCAGAGGTTCT	0.448													G|||	1	0.000199681	0.0	0.0	5008	,	,		18376	0.001		0.0	False		,,,				2504	0.0						uc003jqu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1744-1746)CGG>TGG		ankyrin repeat domain 55 isoform 1							147.0	131.0	136.0					5																	55396111		2203	4300	6503	SO:0001583	missense	79722							g.chr5:55396111G>A	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.1744C>T	5.37:g.55396111G>A	ENSP00000342295:p.Arg582Trp					ANKRD55_uc003jqt.2_Missense_Mutation_p.R294W	p.R582W	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN			12	1896	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	581					B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.1744C>T	CCDS34161.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	17.64	3.439585	0.63067	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	T;T;T	0.51325	1.0;0.71;0.99	5.84	-6.6	0.01824	.	0.000000	0.56097	D	0.000021	T	0.26304	0.0642	L	0.29908	0.895	0.26220	N	0.979174	B;B	0.22604	0.033;0.072	B;B	0.18263	0.008;0.021	T	0.08827	-1.0703	10	0.87932	D	0	.	7.6001	0.28071	0.1963:0.0:0.2565:0.5472	.	582;581	B3KVT8;Q3KP44	.;ANR55_HUMAN	W	582;582;539;294	ENSP00000342295:R582W;ENSP00000424230:R539W;ENSP00000429421:R294W	ENSP00000342295:R582W	R	-	1	2	ANKRD55	55431868	0.013000	0.17824	0.010000	0.14722	0.985000	0.73830	-0.135000	0.10420	-0.962000	0.03604	-0.136000	0.14681	CGG		0.448	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		22	127	0	0	0	0.00333	0	22	127				
HTR1A	3350	broad.mit.edu	37	5	63256551	63256551	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:63256551C>G	ENST00000323865.3	-	1	1229	c.996G>C	c.(994-996)aaG>aaC	p.K332N	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	332					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.K332N(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCATCTTGCGCTTCGCCTCGG	0.607																																							uc011cqt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(994-996)AAG>AAC		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						89.0	92.0	91.0					5																	63256551		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256551C>G	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.996G>C	5.37:g.63256551C>G	ENSP00000316244:p.Lys332Asn						p.K332N	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	996	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	332			Cytoplasmic (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.996G>C	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	19.32	3.805296	0.70682	.	.	ENSG00000178394	ENST00000323865	T	0.37584	1.19	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.052939	0.64402	D	0.000001	T	0.59059	0.2166	M	0.75777	2.31	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.59994	-0.7349	10	0.54805	T	0.06	.	14.0662	0.64831	0.0:0.9259:0.0:0.0741	.	332	P08908	5HT1A_HUMAN	N	332	ENSP00000316244:K332N	ENSP00000316244:K332N	K	-	3	2	HTR1A	63292307	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.984000	0.63838	2.692000	0.91855	0.655000	0.94253	AAG		0.607	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		26	104	0	0	0	0.003954	0	26	104				
MAP1B	4131	broad.mit.edu	37	5	71493960	71493960	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:71493960C>T	ENST00000296755.7	+	5	5076	c.4778C>T	c.(4777-4779)tCt>tTt	p.S1593F		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1593					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.S1593F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTTTCAGTGTCTGTTGTGCAA	0.468																																					Melanoma(17;367 822 11631 31730 47712)	Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(4777-4779)TCT>TTT		microtubule-associated protein 1B							119.0	105.0	110.0					5																	71493960		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71493960C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.4778C>T	5.37:g.71493960C>T	ENSP00000296755:p.Ser1593Phe					MAP1B_uc010iyw.1_Missense_Mutation_p.S1610F|MAP1B_uc010iyx.1_Missense_Mutation_p.S1467F|MAP1B_uc010iyy.1_Missense_Mutation_p.S1467F	p.S1593F	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5019	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1593					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.4778C>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085468	0.55861	.	.	ENSG00000131711	ENST00000296755	T	0.08984	3.03	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000008	T	0.20740	0.0499	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.01604	-1.1314	10	0.87932	D	0	-14.3583	18.7095	0.91651	0.0:1.0:0.0:0.0	.	1467;1593	A2BDK6;P46821	.;MAP1B_HUMAN	F	1593	ENSP00000296755:S1593F	ENSP00000296755:S1593F	S	+	2	0	MAP1B	71529716	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.818000	0.86416	2.435000	0.82474	0.313000	0.20887	TCT		0.468	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		21	106	0	0	0	0.00278	0	21	106				
ACOT12	134526	broad.mit.edu	37	5	80631635	80631635	+	Missense_Mutation	SNP	C	C	T	rs576654714		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:80631635C>T	ENST00000307624.3	-	12	1242	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H	ACOT12_ENST00000508234.1_5'UTR	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	405	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.R405H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		AGACAAGAGACGATAAGCCAA	0.353													c|||	1	0.000199681	0.0	0.0014	5008	,	,		17790	0.0		0.0	False		,,,				2504	0.0						uc003khl.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(1213-1215)CGT>CAT		acyl-CoA thioesterase 12							86.0	95.0	92.0					5																	80631635		2203	4300	6503	SO:0001583	missense	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80631635C>T	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.1214G>A	5.37:g.80631635C>T	ENSP00000303246:p.Arg405His					RNU5E_uc011cto.1_Intron	p.R405H	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	12	1269	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	405			START.		B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.1214G>A	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	c	0.281	-0.986535	0.02180	.	.	ENSG00000172497	ENST00000307624	T	0.28895	1.59	5.24	-4.17	0.03857	Lipid-binding START (2);START-like domain (1);	0.954222	0.08779	N	0.894921	T	0.04907	0.0132	N	0.00197	-1.87	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.37220	-0.9715	10	0.12766	T	0.61	15.7676	2.4963	0.04622	0.1146:0.3023:0.1171:0.466	.	405	Q8WYK0	ACO12_HUMAN	H	405	ENSP00000303246:R405H	ENSP00000303246:R405H	R	-	2	0	ACOT12	80667391	0.002000	0.14202	0.223000	0.23860	0.024000	0.10985	-0.334000	0.07883	-0.410000	0.07542	-1.380000	0.01176	CGT		0.353	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767		12	88	0	0	0	0.001855	0	12	88				
SLCO6A1	133482	broad.mit.edu	37	5	101834533	101834533	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:101834533C>A	ENST00000506729.1	-	1	187	c.16G>T	c.(16-18)Gcc>Tcc	p.A6S	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.A6S|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.A6S|SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.A6S|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.A6S			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A6S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GAGTGCCGGGCGACGCCTACG	0.706																																							uc003knn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|central_nervous_system(1)	7						c.(16-18)GCC>TCC		solute carrier organic anion transporter family,							61.0	72.0	68.0					5																	101834533		2200	4290	6490	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834533C>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.16G>T	5.37:g.101834533C>A	ENSP00000421339:p.Ala6Ser					SLCO6A1_uc003kno.2_Missense_Mutation_p.A6S|SLCO6A1_uc003knp.2_Missense_Mutation_p.A6S|SLCO6A1_uc003knq.2_Missense_Mutation_p.A6S	p.A6S	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	188	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	6			Cytoplasmic (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.16G>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	7.967	0.748332	0.15710	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.51071	0.86;0.86;0.82;0.72;0.72	2.96	0.0475	0.14280	.	.	.	.	.	T	0.22820	0.0551	N	0.14661	0.345	0.09310	N	1	B;B;B	0.29253	0.183;0.239;0.115	B;B;B	0.18561	0.022;0.022;0.01	T	0.14392	-1.0474	9	0.22706	T	0.39	.	5.0632	0.14568	0.0:0.4514:0.4209:0.1277	.	6;6;6	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	S	6	ENSP00000421339:A6S;ENSP00000369135:A6S;ENSP00000373671:A6S;ENSP00000421990:A6S;ENSP00000369138:A6S	ENSP00000369135:A6S	A	-	1	0	SLCO6A1	101862432	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.090000	0.11163	-0.016000	0.14127	-1.342000	0.01247	GCC		0.706	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		29	117	1	0	8.16721e-17	0.002096	1.19246e-16	29	117				
PAM	5066	broad.mit.edu	37	5	102326009	102326009	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:102326009G>C	ENST00000438793.3	+	15	1987	c.1517G>C	c.(1516-1518)gGa>gCa	p.G506A	PAM_ENST00000304400.7_Missense_Mutation_p.G506A|PAM_ENST00000348126.2_Missense_Mutation_p.G399A|PAM_ENST00000346918.2_Missense_Mutation_p.G506A|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000455264.2_Missense_Mutation_p.G506A|PAM_ENST00000274392.9_Missense_Mutation_p.G409A	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	506	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)	p.G506A(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GATTGGCCTGGAGTATACTTG	0.438																																							uc003knw.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1516-1518)GGA>GCA		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						68.0	67.0	67.0					5																	102326009		2203	4300	6503	SO:0001583	missense	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102326009G>C	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.1517G>C	5.37:g.102326009G>C	ENSP00000396493:p.Gly506Ala					PAM_uc003kns.2_Missense_Mutation_p.G399A|PAM_uc003knt.2_Missense_Mutation_p.G506A|PAM_uc003knu.2_Missense_Mutation_p.G506A|PAM_uc003knv.2_Missense_Mutation_p.G506A|PAM_uc011cuz.1_Missense_Mutation_p.G409A|PAM_uc003knx.1_Missense_Mutation_p.G109A	p.G506A	NM_000919	NP_000910	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	15	1890	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	506			Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).|NHL 1.|Intragranular (Potential).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	c.1517G>C	CCDS54885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.47|15.47	2.842943|2.842943	0.51057|0.51057	.|.	.|.	ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000304400;ENST00000274392;ENST00000455264|ENST00000379799	T;T;T;T;T;T|.	0.59364|.	1.17;0.98;1.01;1.17;0.27;0.99|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.156761|.	0.56097|.	D|.	0.000026|.	T|T	0.65780|0.65780	0.2724|0.2724	L|L	0.39085|0.39085	1.19|1.19	0.80722|0.80722	D|D	1|1	D;P;D;D;P;D;D|.	0.63880|.	0.993;0.856;0.988;0.984;0.701;0.993;0.964|.	P;P;P;P;B;P;P|.	0.61397|.	0.888;0.553;0.775;0.851;0.162;0.888;0.789|.	T|T	0.61058|0.61058	-0.7139|-0.7139	10|5	0.30078|.	T|.	0.28|.	.|.	18.88|18.88	0.92352|0.92352	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	409;79;506;506;506;506;399|.	F8WE90;Q13749;P19021;P19021-4;P19021-3;P19021-5;P19021-2|.	.;.;AMD_HUMAN;.;.;.;.|.	A|C	506;506;399;506;409;506|278	ENSP00000396493:G506A;ENSP00000282992:G506A;ENSP00000314638:G399A;ENSP00000306100:G506A;ENSP00000274392:G409A;ENSP00000403461:G506A|.	ENSP00000274392:G409A|.	G|W	+|+	2|3	0|0	PAM|PAM	102353908|102353908	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.939000|0.939000	0.58152|0.58152	6.188000|6.188000	0.72045|0.72045	2.566000|2.566000	0.86566|0.86566	0.555000|0.555000	0.69702|0.69702	GGA|TGG		0.438	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		11	47	0	0	0	0.001855	0	11	47				
SEMA6A	57556	broad.mit.edu	37	5	115783224	115783224	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:115783224G>A	ENST00000343348.6	-	19	2965	c.2178C>T	c.(2176-2178)ctC>ctT	p.L726L	CTB-118N6.3_ENST00000508424.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000513137.1_Silent_p.L153L|SEMA6A_ENST00000282394.6_Silent_p.L203L|SEMA6A_ENST00000510263.1_Silent_p.L726L|SEMA6A_ENST00000257414.8_Silent_p.L743L|CTB-118N6.3_ENST00000510682.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000503865.1_Silent_p.L105L	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	726					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.L726L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CGTTGTGCATGAGTGGCGTGA	0.627																																							uc010jck.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2176-2178)CTC>CTT		sema domain, transmembrane domain (TM), and							170.0	180.0	177.0					5																	115783224		2194	4289	6483	SO:0001819	synonymous_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115783224G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2178C>T	5.37:g.115783224G>A						SEMA6A_uc003krx.3_Silent_p.L743L|SEMA6A_uc011cwe.1_Silent_p.L105L|SEMA6A_uc003krv.3_Silent_p.L153L|SEMA6A_uc003krw.3_Silent_p.L203L|SEMA6A_uc010jcj.2_Silent_p.L270L	p.L726L	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	2887	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	726			Cytoplasmic (Potential).		Q9P2H9	Silent	SNP	ENST00000343348.6	37	c.2178C>T	CCDS47256.1	.	.	.	.	.	.	.	.	.	.	G	4.937	0.174008	0.09391	.	.	ENSG00000092421	ENST00000515129	.	.	.	4.92	1.75	0.24633	.	.	.	.	.	T	0.69958	0.3169	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69734	-0.5065	4	.	.	.	.	16.2563	0.82519	0.0:0.5607:0.4393:0.0	.	.	.	.	L	241	.	.	S	-	2	0	SEMA6A	115811123	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.338000	0.43957	0.437000	0.26423	0.650000	0.86243	TCA		0.627	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		5	250	0	0	0	0.000602	0	5	250				
RAPGEF6	51735	broad.mit.edu	37	5	130815330	130815330	+	Missense_Mutation	SNP	C	C	G	rs532637654		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:130815330C>G	ENST00000509018.1	-	16	2162	c.1957G>C	c.(1957-1959)Gaa>Caa	p.E653Q	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E653Q|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E653Q|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E653Q|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E653Q|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E703Q|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E653Q|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E368Q	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	653					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.E653Q(3)|p.E703Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GATGTCTGTTCAATATCTCCT	0.358																																					Melanoma(168;435 1955 13113 13877 23213)	Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1957-1959)GAA>CAA		PDZ domain-containing guanine nucleotide							194.0	184.0	187.0					5																	130815330		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130815330C>G	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.1957G>C	5.37:g.130815330C>G	ENSP00000421684:p.Glu653Gln					RAPGEF6_uc003kvp.1_Missense_Mutation_p.E703Q|RAPGEF6_uc003kvo.1_Missense_Mutation_p.E653Q|RAPGEF6_uc010jdi.1_Missense_Mutation_p.E653Q|RAPGEF6_uc010jdj.1_Missense_Mutation_p.E653Q|RAPGEF6_uc003kvq.2_Missense_Mutation_p.E370Q|RAPGEF6_uc003kvr.2_Missense_Mutation_p.E653Q|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.E653Q	p.E653Q	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	16	2163	-			653					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.1957G>C	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784244	0.90282	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T;T	0.28069	1.79;1.73;1.71;1.79;1.64;1.63;2.18;1.89	5.79	5.79	0.91817	Ras guanine nucleotide exchange factor, domain (1);	0.057014	0.64402	D	0.000002	T	0.55752	0.1940	M	0.66939	2.045	0.80722	D	1	D;P;D;D;D;D;D	0.76494	0.996;0.609;0.984;0.987;0.996;0.999;0.992	P;B;D;P;D;D;P	0.69142	0.87;0.342;0.917;0.87;0.917;0.962;0.84	T	0.50849	-0.8779	10	0.46703	T	0.11	.	20.0474	0.97616	0.0:1.0:0.0:0.0	.	653;653;653;368;703;653;653	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	Q	653;653;653;653;653;368;653;653;703	ENSP00000421684:E653Q;ENSP00000309298:E653Q;ENSP00000426081:E653Q;ENSP00000296859:E653Q;ENSP00000426910:E368Q;ENSP00000311419:E653Q;ENSP00000425389:E653Q;ENSP00000426948:E703Q	ENSP00000426948:E703Q	E	-	1	0	RAPGEF6;FNIP1	130843229	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.291000	0.78721	2.722000	0.93159	0.655000	0.94253	GAA		0.358	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		27	115	0	0	0	0.007291	0	27	115				
RAPGEF6	51735	broad.mit.edu	37	5	130883763	130883763	+	Missense_Mutation	SNP	C	C	T	rs201854678	byFrequency	TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:130883763C>T	ENST00000509018.1	-	6	677	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.V158M|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.V158M|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.V158M|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.V158M|RAPGEF6_ENST00000503398.2_5'Flank|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.V208M|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.V158M	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	158					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.V158M(3)|p.V208M(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TTAACCTCCACATCATCAGTA	0.338													C|||	2	0.000399361	0.0	0.0	5008	,	,		17317	0.002		0.0	False		,,,				2504	0.0				Melanoma(168;435 1955 13113 13877 23213)	Melanoma(168;435 1955 13113 13877 23213)	uc003kvn.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(472-474)GTG>ATG		PDZ domain-containing guanine nucleotide							144.0	141.0	142.0					5																	130883763		2203	4300	6503	SO:0001583	missense	51735				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	g.chr5:130883763C>T	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.472G>A	5.37:g.130883763C>T	ENSP00000421684:p.Val158Met					RAPGEF6_uc003kvp.1_Missense_Mutation_p.V208M|RAPGEF6_uc003kvo.1_Missense_Mutation_p.V158M|RAPGEF6_uc010jdi.1_Missense_Mutation_p.V158M|RAPGEF6_uc010jdj.1_Missense_Mutation_p.V158M|RAPGEF6_uc003kvr.2_Missense_Mutation_p.V158M|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.V158M	p.V158M	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)	6	678	-			158					A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	c.472G>A	CCDS34225.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	28.5	4.927043	0.92389	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T	0.27720	1.84;1.75;1.75;1.84;1.65;2.19;1.93	5.95	5.95	0.96441	.	0.259036	0.32578	N	0.005908	T	0.52125	0.1715	M	0.63428	1.95	0.80722	D	1	D;D;D;D;D;D	0.61080	0.98;0.984;0.989;0.984;0.98;0.984	P;P;P;P;P;P	0.59643	0.73;0.73;0.861;0.73;0.861;0.73	T	0.41052	-0.9530	10	0.48119	T	0.1	.	20.3812	0.98933	0.0:1.0:0.0:0.0	.	158;158;158;208;158;158	A3KN82;B7ZML2;Q8TEU7-2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;RPGF6_HUMAN	M	158;158;158;158;158;158;158;208	ENSP00000421684:V158M;ENSP00000309298:V158M;ENSP00000426081:V158M;ENSP00000296859:V158M;ENSP00000311419:V158M;ENSP00000425389:V158M;ENSP00000426948:V208M	ENSP00000426948:V208M	V	-	1	0	RAPGEF6;FNIP1	130911662	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.773000	0.47686	2.821000	0.97095	0.650000	0.86243	GTG		0.338	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340		15	85	0	0	0	0.00499	0	15	85				
PCDHB7	56129	broad.mit.edu	37	5	140552718	140552718	+	Missense_Mutation	SNP	C	C	A	rs139238267	byFrequency	TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:140552718C>A	ENST00000231137.3	+	1	476	c.302C>A	c.(301-303)cCc>cAc	p.P101H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	101	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)	p.P101H(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGAGAGCCCTGTGTGCTG	0.443																																							uc003lit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(301-303)CCC>CAC		protocadherin beta 7 precursor							82.0	87.0	85.0					5																	140552718		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140552718C>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.302C>A	5.37:g.140552718C>A	ENSP00000231137:p.Pro101His						p.P101H	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	476	+			101			Extracellular (Potential).|Cadherin 1.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.302C>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.798988	0.50208	.	.	ENSG00000113212	ENST00000231137	T	0.30448	1.53	4.61	3.72	0.42706	Cadherin, N-terminal (1);	.	.	.	.	T	0.57548	0.2061	M	0.83118	2.625	0.30508	N	0.769695	D	0.69078	0.997	D	0.77004	0.989	T	0.60409	-0.7269	9	0.72032	D	0.01	.	13.2502	0.60048	0.0:0.9162:0.0:0.0838	.	101	Q9Y5E2	PCDB7_HUMAN	H	101	ENSP00000231137:P101H	ENSP00000231137:P101H	P	+	2	0	PCDHB7	140532902	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	0.521000	0.22893	2.248000	0.74166	0.655000	0.94253	CCC		0.443	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		28	105	1	0	3.1745e-13	0.008361	4.423e-13	28	105				
PCDHB7	56129	broad.mit.edu	37	5	140553224	140553224	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:140553224G>A	ENST00000231137.3	+	1	982	c.808G>A	c.(808-810)Gat>Aat	p.D270N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	270	Cadherin 3. {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)	p.D270N(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAGATTTAGATACCGGAAG	0.468																																							uc003lit.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(808-810)GAT>AAT		protocadherin beta 7 precursor							73.0	78.0	76.0					5																	140553224		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553224G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.808G>A	5.37:g.140553224G>A	ENSP00000231137:p.Asp270Asn						p.D270N	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	982	+			270			Extracellular (Potential).|Cadherin 3.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.808G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789749	0.90367	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.74002	-0.8	4.61	4.61	0.57282	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.90048	0.6892	H	0.94345	3.525	0.52501	D	0.999955	D	0.89917	1.0	D	0.97110	1.0	D	0.93163	0.6559	9	0.87932	D	0	.	17.4139	0.87494	0.0:0.0:1.0:0.0	.	270	Q9Y5E2	PCDB7_HUMAN	N	270;53	ENSP00000231137:D270N	ENSP00000231137:D270N	D	+	1	0	PCDHB7	140533408	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	9.809000	0.99208	2.248000	0.74166	0.655000	0.94253	GAT		0.468	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		20	65	0	0	0	0.010504	0	20	65				
PCDHGB3	56102	broad.mit.edu	37	5	140750984	140750984	+	Silent	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:140750984T>C	ENST00000576222.1	+	1	1154	c.1023T>C	c.(1021-1023)aaT>aaC	p.N341N	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	341	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATGAAAATGACAATGCCC	0.438																																							uc003ljw.1		NA																	0					0						c.(1021-1023)AAT>AAC		protocadherin gamma subfamily B, 3 isoform 1							61.0	61.0	61.0					5																	140750984		1920	4140	6060	SO:0001819	synonymous_variant	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140750984T>C	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1023T>C	5.37:g.140750984T>C						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Silent_p.N341N|PCDHGA6_uc011dau.1_5'Flank	p.N341N	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1023	+			341			Extracellular (Potential).|Cadherin 3.		A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1023T>C	CCDS58980.1																																																																																				0.438	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		14	60	0	0	0	0.001855	0	14	60				
TCOF1	6949	broad.mit.edu	37	5	149758590	149758590	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:149758590G>C	ENST00000504761.2	+	15	2463	c.2463G>C	c.(2461-2463)caG>caC	p.Q821H	TCOF1_ENST00000323668.7_Missense_Mutation_p.Q744H|TCOF1_ENST00000506063.1_3'UTR|TCOF1_ENST00000451292.1_Missense_Mutation_p.Q821H|TCOF1_ENST00000513346.1_Missense_Mutation_p.Q821H|TCOF1_ENST00000377797.3_Missense_Mutation_p.Q821H|TCOF1_ENST00000394269.3_Missense_Mutation_p.Q821H|TCOF1_ENST00000439160.2_Missense_Mutation_p.Q821H|TCOF1_ENST00000445265.2_Missense_Mutation_p.Q744H			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	821					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)	p.Q821H(1)|p.Q744H(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCCAAGCAGAGGTCTCCAT	0.597																																							uc003lry.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(2461-2463)CAG>CAC		Treacher Collins-Franceschetti syndrome 1							65.0	68.0	67.0					5																	149758590		2203	4300	6503	SO:0001583	missense	6949				skeletal system development	nucleolus	protein binding|transporter activity	g.chr5:149758590G>C		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2463G>C	5.37:g.149758590G>C	ENSP00000421655:p.Gln821His					TCOF1_uc003lrw.2_Missense_Mutation_p.Q821H|TCOF1_uc011dch.1_Missense_Mutation_p.Q821H|TCOF1_uc003lrz.2_Missense_Mutation_p.Q821H|TCOF1_uc003lrx.2_Missense_Mutation_p.Q744H|TCOF1_uc003lsa.2_Missense_Mutation_p.Q744H|TCOF1_uc011dci.1_Missense_Mutation_p.Q310H	p.Q821H	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		15	2571	+		all_hematologic(541;0.224)	821					A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	ENST00000504761.2	37	c.2463G>C	CCDS54936.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290967	0.23564	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2;-0.2	4.84	3.94	0.45596	Treacher Collins syndrome, treacle (1);	0.827549	0.10185	N	0.705343	T	0.73705	0.3621	L	0.59436	1.845	0.09310	N	1	D;D;D;D;D;D;D	0.61080	0.971;0.965;0.965;0.965;0.989;0.965;0.965	P;P;P;P;D;P;P	0.63597	0.819;0.723;0.723;0.723;0.916;0.723;0.723	T	0.60682	-0.7215	10	0.52906	T	0.07	-0.3141	11.5344	0.50628	0.0:0.1819:0.8181:0.0	.	330;821;744;821;821;744;821	B4DRA2;Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8;Q13428-5	.;.;.;.;TCOF_HUMAN;.;.	H	821;821;744;744;821;821;821;821;821	ENSP00000400939:Q821H;ENSP00000367028:Q821H;ENSP00000409944:Q744H;ENSP00000325223:Q744H;ENSP00000406888:Q821H;ENSP00000377811:Q821H;ENSP00000390717:Q821H;ENSP00000421655:Q821H;ENSP00000427484:Q821H	ENSP00000325223:Q744H	Q	+	3	2	TCOF1	149738783	0.039000	0.19947	0.273000	0.24645	0.039000	0.13416	1.609000	0.36858	1.311000	0.45024	0.561000	0.74099	CAG		0.597	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380552.1	NM_001008656		10	74	0	0	0	0.008291	0	10	74				
FAM71B	153745	broad.mit.edu	37	5	156590341	156590341	+	Missense_Mutation	SNP	G	G	C	rs200982218		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:156590341G>C	ENST00000302938.4	-	2	1030	c.935C>G	c.(934-936)gCg>gGg	p.A312G		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	312	Ala-rich.					nucleus (GO:0005634)		p.A312G(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCCGCCAGCGCTGTGGTCAC	0.517																																							uc003lwn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(934-936)GCG>GGG		family with sequence similarity 71, member B							114.0	111.0	112.0					5																	156590341		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156590341G>C		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.935C>G	5.37:g.156590341G>C	ENSP00000305596:p.Ala312Gly						p.A312G	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1035	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	312			Ala-rich.		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.935C>G	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596044	0.46318	.	.	ENSG00000170613	ENST00000302938	T	0.04809	3.55	3.85	2.96	0.34315	.	0.724337	0.11932	N	0.515623	T	0.09686	0.0238	L	0.46157	1.445	0.09310	N	1	D	0.63880	0.993	P	0.53450	0.726	T	0.27297	-1.0078	10	0.34782	T	0.22	-4.6405	9.7121	0.40251	0.0:0.2098:0.7902:0.0	.	312	Q8TC56	FA71B_HUMAN	G	312	ENSP00000305596:A312G	ENSP00000305596:A312G	A	-	2	0	FAM71B	156522919	0.020000	0.18652	0.002000	0.10522	0.003000	0.03518	2.432000	0.44784	1.154000	0.42482	0.655000	0.94253	GCG		0.517	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		29	132	0	0	0	0.008361	0	29	132				
FAM71B	153745	broad.mit.edu	37	5	156592974	156592974	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:156592974A>T	ENST00000302938.4	-	1	301	c.206T>A	c.(205-207)aTg>aAg	p.M69K		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	69						nucleus (GO:0005634)		p.M69K(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTGTCACCATTCGGACACG	0.468																																							uc003lwn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(205-207)ATG>AAG		family with sequence similarity 71, member B							142.0	132.0	135.0					5																	156592974		2203	4300	6503	SO:0001583	missense	153745					nucleus		g.chr5:156592974A>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.206T>A	5.37:g.156592974A>T	ENSP00000305596:p.Met69Lys						p.M69K	NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	306	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	69					Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	37	c.206T>A	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.686290	0.68157	.	.	ENSG00000170613	ENST00000302938	T	0.03951	3.75	4.67	4.67	0.58626	.	0.165787	0.41396	D	0.000891	T	0.15132	0.0365	M	0.64567	1.98	0.41397	D	0.987652	D	0.76494	0.999	D	0.64410	0.925	T	0.00587	-1.1657	10	0.45353	T	0.12	-34.9117	11.0786	0.48047	1.0:0.0:0.0:0.0	.	69	Q8TC56	FA71B_HUMAN	K	69	ENSP00000305596:M69K	ENSP00000305596:M69K	M	-	2	0	FAM71B	156525552	0.997000	0.39634	1.000000	0.80357	0.990000	0.78478	1.609000	0.36858	2.036000	0.60181	0.460000	0.39030	ATG		0.468	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		18	77	0	0	0	0.008871	0	18	77				
TENM2	57451	broad.mit.edu	37	5	167689648	167689648	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:167689648G>C	ENST00000518659.1	+	29	8197	c.8158G>C	c.(8158-8160)Gag>Cag	p.E2720Q	TENM2_ENST00000520394.1_Missense_Mutation_p.E2481Q|TENM2_ENST00000545108.1_Missense_Mutation_p.E2719Q|TENM2_ENST00000519204.1_Missense_Mutation_p.E2599Q|TENM2_ENST00000403607.2_Missense_Mutation_p.E2544Q	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2720					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.E2599Q(1)|p.E2553Q(1)|p.E2720Q(1)									GGACGGGAGAGAGGGGAGCCG	0.657																																							uc010jjd.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(6)|central_nervous_system(4)	10						c.(8131-8133)GAG>CAG		odz, odd Oz/ten-m homolog 2							14.0	16.0	15.0					5																	167689648		2008	4154	6162	SO:0001583	missense	57451							g.chr5:167689648G>C	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.8158G>C	5.37:g.167689648G>C	ENSP00000429430:p.Glu2720Gln					ODZ2_uc003lzr.3_Missense_Mutation_p.E2481Q|ODZ2_uc003lzt.3_Missense_Mutation_p.E2084Q|ODZ2_uc010jje.2_Missense_Mutation_p.E1975Q	p.E2711Q	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	29	8131	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.8131G>C		.	.	.	.	.	.	.	.	.	.	G	18.45	3.627602	0.66901	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89552	-2.06;-2.05;-2.16;-2.51;-2.53	5.25	5.25	0.73442	.	0.046101	0.85682	D	0.000000	D	0.91845	0.7419	L	0.52266	1.64	0.58432	D	0.999993	D;D;P	0.56287	0.975;0.957;0.886	P;P;P	0.60473	0.875;0.754;0.542	D	0.89701	0.3905	10	0.28530	T	0.3	.	19.199	0.93701	0.0:0.0:1.0:0.0	.	2719;2720;2481	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	Q	2720;2719;2599;2481;2544	ENSP00000429430:E2720Q;ENSP00000438635:E2719Q;ENSP00000428964:E2599Q;ENSP00000427874:E2481Q;ENSP00000384905:E2544Q	ENSP00000384905:E2544Q	E	+	1	0	ODZ2	167622226	1.000000	0.71417	0.988000	0.46212	0.987000	0.75469	9.813000	0.99286	2.620000	0.88729	0.561000	0.74099	GAG		0.657	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		5	12	0	0	0	0.000602	0	5	12				
HK3	3101	broad.mit.edu	37	5	176317681	176317681	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:176317681G>A	ENST00000292432.5	-	6	676	c.585C>T	c.(583-585)ggC>ggT	p.G195G		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	195	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)	p.G195G(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACATCCTGGCCTTCCACAC	0.612																																							uc003mfa.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(583-585)GGC>GGT		hexokinase 3							219.0	211.0	214.0					5																	176317681		2203	4300	6503	SO:0001819	synonymous_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176317681G>A		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.585C>T	5.37:g.176317681G>A						HK3_uc003mez.2_5'Flank	p.G195G	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	677	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	195			Regulatory.		Q8N1E7	Silent	SNP	ENST00000292432.5	37	c.585C>T	CCDS4407.1																																																																																				0.612	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			7	271	0	0	0	0.004482	0	7	271				
PROP1	5626	broad.mit.edu	37	5	177419796	177419797	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:177419796_177419797GC>TT	ENST00000308304.2	-	3	902_903	c.594_595GC>AA	c.(592-597)ttGCac>ttAAac	p.H199N		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	199					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.H199N(1)		endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	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)			GGGGCTGGGTGCAAGGTAGGGT	0.634																																							uc003mif.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(592-597)TTGCAC>TTAAAC		PROP paired-like homeobox 1																																				SO:0001583	missense	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177419796_177419797GC>TT	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.594_595delinsTT	5.37:g.177419796_177419797delinsTT	ENSP00000311290:p.His199Asn						p.H199N	NM_006261	NP_006252	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	903_904	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	199						Missense_Mutation	DNP	ENST00000308304.2	37	c.594_595GC>AA	CCDS4430.1																																																																																				0.634	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		5	25	0	0	0	0.004672	0	5	25				
BPHL	670	broad.mit.edu	37	6	3127546	3127546	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:3127546G>T	ENST00000380379.5	+	3	331	c.282G>T	c.(280-282)tgG>tgT	p.W94C	BPHL_ENST00000380375.3_Missense_Mutation_p.W77C|BPHL_ENST00000380368.2_Missense_Mutation_p.W77C|BPHL_ENST00000434640.1_Missense_Mutation_p.W77C	NM_004332.2	NP_004323.2	Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	94					cellular amino acid metabolic process (GO:0006520)|response to toxic substance (GO:0009636)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)	p.W77C(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TGGTCGCCTGGGATCCTCGAG	0.488																																							uc003mva.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(280-282)TGG>TGT		biphenyl hydrolase-like precursor							111.0	110.0	110.0					6																	3127546		2203	4300	6503	SO:0001583	missense	670				cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity	g.chr6:3127546G>T	X81372	CCDS4483.2	6p25	2008-08-29	2008-08-29		ENSG00000137274	ENSG00000137274			1094	protein-coding gene	gene with protein product	"""breast epithelial mucin-associated antigen"""	603156		MCNAA		7759552, 9721218, 15832508	Standard	NM_004332		Approved	Bph-rp	uc003mva.3	Q86WA6	OTTHUMG00000014140	ENST00000380379.5:c.282G>T	6.37:g.3127546G>T	ENSP00000369739:p.Trp94Cys					BPHL_uc003muz.2_RNA|BPHL_uc011dht.1_RNA|BPHL_uc003muy.2_Missense_Mutation_p.W77C	p.W94C	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN			3	331	+	Ovarian(93;0.0386)	all_hematologic(90;0.108)	94					Q00306|Q13855|Q3KP51	Missense_Mutation	SNP	ENST00000380379.5	37	c.282G>T	CCDS4483.2	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506432	0.64410	.	.	ENSG00000137274	ENST00000434640;ENST00000380375;ENST00000380368;ENST00000380379	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.43	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.72763	0.3501	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.977	T	0.73509	-0.3960	10	0.39692	T	0.17	-3.3077	12.8433	0.57815	0.0:0.1251:0.7445:0.1303	.	94;77	Q86WA6;Q86WA6-2	BPHL_HUMAN;.	C	77;77;77;94	ENSP00000390472:W77C;ENSP00000369734:W77C;ENSP00000369726:W77C;ENSP00000369739:W94C	ENSP00000369726:W77C	W	+	3	0	BPHL	3072545	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.897000	0.69831	0.748000	0.32831	0.655000	0.94253	TGG		0.488	BPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039670.5			17	96	1	0	1.15088e-07	0.004007	1.45693e-07	17	96				
RIOK1	83732	broad.mit.edu	37	6	7395331	7395331	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:7395331C>G	ENST00000379834.2	+	3	829	c.322C>G	c.(322-324)Cca>Gca	p.P108A		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	108							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P101A(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					AATGTCTACTCCAGCAGACAA	0.393																																							uc003mxn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|stomach(1)|skin(1)	4						c.(322-324)CCA>GCA		RIO kinase 1 isoform 1							55.0	51.0	52.0					6																	7395331		2203	4300	6503	SO:0001583	missense	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7395331C>G	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.322C>G	6.37:g.7395331C>G	ENSP00000369162:p.Pro108Ala					RIOK1_uc003mxm.1_Missense_Mutation_p.P4A	p.P108A	NM_031480	NP_113668	Q9BRS2	RIOK1_HUMAN			3	496	+	Ovarian(93;0.0418)		108					B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	ENST00000379834.2	37	c.322C>G	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412311	0.62511	.	.	ENSG00000124784	ENST00000379834	T	0.05996	3.36	5.55	5.55	0.83447	.	0.107475	0.64402	D	0.000004	T	0.07503	0.0189	M	0.85197	2.74	0.80722	D	1	B	0.34015	0.435	B	0.29942	0.109	T	0.01222	-1.1414	10	0.62326	D	0.03	-12.0683	16.6641	0.85248	0.0:1.0:0.0:0.0	.	108	Q9BRS2	RIOK1_HUMAN	A	108	ENSP00000369162:P108A	ENSP00000369162:P108A	P	+	1	0	RIOK1	7340330	1.000000	0.71417	1.000000	0.80357	0.618000	0.37518	5.085000	0.64468	2.616000	0.88540	0.591000	0.81541	CCA		0.393	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		5	22	0	0	0	0.000602	0	5	22				
ATXN1	6310	broad.mit.edu	37	6	16327410	16327410	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:16327410C>T	ENST00000244769.4	-	8	2068	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	ATXN1_ENST00000436367.1_Missense_Mutation_p.V378I	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	378					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.V378I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GAGGCCCGGACCCCCGAAGGA	0.642																																							uc003nbt.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|central_nervous_system(1)	4						c.(1132-1134)GTC>ATC		ataxin 1							113.0	127.0	122.0					6																	16327410		2203	4300	6503	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327410C>T	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.1132G>A	6.37:g.16327410C>T	ENSP00000244769:p.Val378Ile					ATXN1_uc010jpi.2_Missense_Mutation_p.V378I|ATXN1_uc010jpj.1_Intron	p.V378I	NM_000332	NP_000323	P54253	ATX1_HUMAN			8	2103	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	378					Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.1132G>A	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167207	0.38315	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.78126	-1.15;-1.15	4.76	4.76	0.60689	.	0.257134	0.39407	N	0.001368	T	0.57770	0.2076	L	0.32530	0.975	0.33847	D	0.632121	P	0.37955	0.612	B	0.34536	0.185	T	0.65944	-0.6045	10	0.46703	T	0.11	-25.6346	17.7777	0.88514	0.0:1.0:0.0:0.0	.	378	P54253	ATX1_HUMAN	I	378	ENSP00000244769:V378I;ENSP00000416360:V378I	ENSP00000244769:V378I	V	-	1	0	ATXN1	16435389	0.997000	0.39634	1.000000	0.80357	0.525000	0.34531	1.936000	0.40183	2.184000	0.69523	0.561000	0.74099	GTC		0.642	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		35	165	0	0	0	0.003271	0	35	165				
HIST1H2BB	3018	broad.mit.edu	37	6	26043664	26043664	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:26043664G>A	ENST00000357905.2	-	1	221	c.222C>T	c.(220-222)atC>atT	p.I74I	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	74					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I74I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						CCTCGCCCGCGATGCGCTCGA	0.592																																							uc003nfu.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(220-222)ATC>ATT		histone cluster 1, H2bb							129.0	125.0	126.0					6																	26043664		2203	4300	6503	SO:0001819	synonymous_variant	3018				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26043664G>A	AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"""Histones / Replication-dependent"""	4751	protein-coding gene	gene with protein product		602803	"""H2B histone family, member F"", ""histone 1, H2bb"""	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.222C>T	6.37:g.26043664G>A						HIST1H3C_uc003nfv.2_5'Flank	p.I74I	NM_021062	NP_066406	P33778	H2B1B_HUMAN			1	222	-			74					Q4KN36	Silent	SNP	ENST00000357905.2	37	c.222C>T	CCDS4575.1																																																																																				0.592	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040083.1	NM_021062		17	180	0	0	0	0.004007	0	17	180				
OR2B6	26212	broad.mit.edu	37	6	27925441	27925441	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:27925441C>A	ENST00000244623.1	+	1	423	c.423C>A	c.(421-423)tgC>tgA	p.C141*		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C141*(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AGAGACTCTGCCTCCAGTTGG	0.498																																							uc011dkx.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(421-423)TGC>TGA		olfactory receptor, family 2, subfamily B,							106.0	107.0	107.0					6																	27925441		2203	4300	6503	SO:0001587	stop_gained	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925441C>A	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.423C>A	6.37:g.27925441C>A	ENSP00000244623:p.Cys141*						p.C141*	NM_012367	NP_036499	P58173	OR2B6_HUMAN			1	423	+			141			Helical; Name=4; (Potential).		O43883|Q6IF89|Q9H5B0	Nonsense_Mutation	SNP	ENST00000244623.1	37	c.423C>A	CCDS4642.1	.	.	.	.	.	.	.	.	.	.	c	9.607	1.130285	0.21041	.	.	ENSG00000124657	ENST00000244623	.	.	.	3.68	2.79	0.32731	.	0.000000	0.37348	U	0.002136	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2526	0.37564	0.0:0.7918:0.0:0.2082	.	.	.	.	X	141	.	ENSP00000244623:C141X	C	+	3	2	OR2B6	28033420	0.005000	0.15991	0.946000	0.38457	0.194000	0.23727	-0.062000	0.11674	0.302000	0.22762	-1.119000	0.02030	TGC		0.498	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			30	171	1	0	7.26314e-15	0.007291	1.02446e-14	30	171				
C6orf48	50854	broad.mit.edu	37	6	31805197	31805197	+	Missense_Mutation	SNP	C	C	T	rs377171871		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:31805197C>T	ENST00000375640.3	+	3	819	c.92C>T	c.(91-93)tCt>tTt	p.S31F	C6orf48_ENST00000375641.2_Missense_Mutation_p.S31F|C6orf48_ENST00000375635.2_Missense_Mutation_p.S31F|C6orf48_ENST00000395789.1_Missense_Mutation_p.S31F|C6orf48_ENST00000375638.3_Missense_Mutation_p.S31F|C6orf48_ENST00000375642.2_Missense_Mutation_p.S31F|C6orf48_ENST00000375639.2_Missense_Mutation_p.S31F|SNORD52_ENST00000364884.1_RNA|C6orf48_ENST00000395788.3_Missense_Mutation_p.S31F|SNORD48_ENST00000364953.1_RNA|C6orf48_ENST00000375633.1_Missense_Mutation_p.S31F	NM_001040438.1	NP_001035528.1	Q9UBA6	G8_HUMAN	chromosome 6 open reading frame 48	31								p.S31F(1)		breast(1)|large_intestine(1)|lung(1)|skin(1)	4						CATGCCTGTTCTCCTTCCTTG	0.493																																							uc003rjx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(91-93)TCT>TTT		G8 protein							267.0	201.0	223.0					6																	31805197		2203	4300	6503	SO:0001583	missense	50854							g.chr6:31805197C>T	AJ249732	CCDS34416.1	6p21.33	2011-12-13			ENSG00000204387	ENSG00000204387			19078	protein-coding gene	gene with protein product		605447				8096093	Standard	NM_001287483		Approved	D6S57, G8	uc003rjy.2	Q9UBA6	OTTHUMG00000031175	ENST00000375640.3:c.92C>T	6.37:g.31805197C>T	ENSP00000364791:p.Ser31Phe					C6orf48_uc003rjy.1_Missense_Mutation_p.S31F|C6orf48_uc003rjz.1_RNA	p.S31F	NM_001040437	NP_001035527	Q9UBA6	G8_HUMAN			4	605	+			31					Q9BW21|Q9UBA7|Q9UBA8	Missense_Mutation	SNP	ENST00000375640.3	37	c.92C>T	CCDS34416.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260357	0.23051	.	.	ENSG00000204387	ENST00000375640;ENST00000375641;ENST00000375639;ENST00000375638;ENST00000375635;ENST00000375642;ENST00000395789;ENST00000375633;ENST00000395788	.	.	.	2.61	1.73	0.24493	.	.	.	.	.	T	0.11024	0.0269	.	.	.	0.09310	N	1	P	0.39157	0.662	B	0.35510	0.204	T	0.11324	-1.0592	7	0.87932	D	0	.	5.5399	0.17031	0.0:0.8423:0.0:0.1577	.	31	Q9UBA6	G8_HUMAN	F	31	.	ENSP00000364784:S31F	S	+	2	0	C6orf48	31913176	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-0.052000	0.11865	0.685000	0.31468	0.643000	0.83706	TCT		0.493	C6orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076332.2	NM_001040437		17	148	0	0	0	0.010504	0	17	148				
CFB	629	broad.mit.edu	37	6	31918140	31918140	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:31918140C>T	ENST00000425368.2	+	12	2097	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	CFB_ENST00000477310.1_Silent_p.F879F|CFB_ENST00000556679.1_Silent_p.F1030F|CFB_ENST00000456570.1_Silent_p.F1030F	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	528	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				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)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)	p.F528F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CACATTGTTTCACTGTGGATG	0.537																																							uc003nyj.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1582-1584)TTC>TTT		complement factor B preproprotein							164.0	107.0	128.0					6																	31918140		1511	2709	4220	SO:0001819	synonymous_variant	629				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity	g.chr6:31918140C>T	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1584C>T	6.37:g.31918140C>T						CFB_uc011dor.1_Silent_p.F1030F|CFB_uc003nyi.2_Silent_p.F528F	p.F528F	NM_001710	NP_001701	P00751	CFAB_HUMAN			12	1862	+			528			Peptidase S1.		B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Silent	SNP	ENST00000425368.2	37	c.1584C>T	CCDS4729.1																																																																																				0.537	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	NM_001710		4	110	0	0	0	0.009096	0	4	110				
ATF6B	1388	broad.mit.edu	37	6	32086644	32086644	+	Splice_Site	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:32086644C>T	ENST00000375203.3	-	11	1185		c.e11-1		ATF6B_ENST00000375201.4_Splice_Site	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta						response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						GCTCGCTGTTCTAAGGTACAA	0.493																																							uc003nzn.2		NA																	1	Unknown(1)		lung(1)		0						c.e11-1		activating transcription factor 6 beta isoform							77.0	74.0	75.0					6																	32086644		2203	4300	6503	SO:0001630	splice_region_variant	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32086644C>T		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.1153-1G>A	6.37:g.32086644C>T						TNXB_uc010jts.1_5'Flank|ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.2_Splice_Site_p.N382_splice|ATF6B_uc003nzp.1_Splice_Site_p.N74_splice	p.N385_splice	NM_004381	NP_004372	Q99941	ATF6B_HUMAN			11	1186	-								B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Splice_Site	SNP	ENST00000375203.3	37	c.1153_splice	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164965	0.78339	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2533	0.87048	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATF6B	32194622	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	3.460000	0.53028	2.755000	0.94549	0.655000	0.94253	.		0.493	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2		Intron	9	72	0	0	0	0.004482	0	9	72				
DAXX	1616	broad.mit.edu	37	6	33289672	33289672	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:33289672C>T	ENST00000374542.5	-	2	235	c.31G>A	c.(31-33)Gat>Aat	p.D11N	DAXX_ENST00000266000.6_Missense_Mutation_p.D11N|DAXX_ENST00000414083.2_Intron|DAXX_ENST00000477162.1_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	11	Necessary for interaction with USP7 and ATRX.|Poly-Asp.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.D11N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TCATCATCATCCAGCACGATG	0.612			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																		uc003oec.2		NA		Rec	yes		6	6p21.3	1616	Mis|F|N	death-domain associated protein			E			Pancreatic neuroendocrine tumors		1	Substitution - Missense(1)		lung(1)	pancreas(18)|ovary(2)|skin(2)|prostate(1)	23						c.(31-33)GAT>AAT		death-domain associated protein isoform a							57.0	58.0	58.0					6																	33289672		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33289672C>T	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.31G>A	6.37:g.33289672C>T	ENSP00000363668:p.Asp11Asn					DAXX_uc011drd.1_Intron|DAXX_uc011dre.1_Missense_Mutation_p.D23N|DAXX_uc003oed.2_Missense_Mutation_p.D11N|DAXX_uc010juw.2_5'UTR	p.D11N	NM_001350	NP_001341	Q9UER7	DAXX_HUMAN			2	235	-			11			Poly-Asp.|Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.31G>A	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624773	0.87560	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000446403;ENST00000453407;ENST00000446511	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.72550	0.3474	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75153	-0.3418	9	0.66056	D	0.02	-18.9936	13.6627	0.62376	0.0:1.0:0.0:0.0	.	23;11	B4E1C1;Q9UER7	.;DAXX_HUMAN	N	11	.	ENSP00000266000:D11N	D	-	1	0	DAXX	33397650	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.525000	0.67110	2.602000	0.87976	0.543000	0.68304	GAT		0.612	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			24	83	0	0	0	0.00333	0	24	83				
SPATS1	221409	broad.mit.edu	37	6	44336165	44336165	+	Silent	SNP	A	A	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:44336165A>G	ENST00000288390.2	+	5	971	c.624A>G	c.(622-624)ccA>ccG	p.P208P	RP11-444E17.6_ENST00000505802.1_3'UTR|SPATS1_ENST00000323108.8_Silent_p.P208P			Q496A3	SPAS1_HUMAN	spermatogenesis associated, serine-rich 1	208								p.P208P(2)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCGACAATCCATATATGTACC	0.393																																							uc003oxk.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(622-624)CCA>CCG		spermatogenesis associated, serine-rich 1							121.0	118.0	119.0					6																	44336165		2203	4300	6503	SO:0001819	synonymous_variant	221409							g.chr6:44336165A>G	AK058171	CCDS4911.1	6p21.1	2003-08-08			ENSG00000249481	ENSG00000249481			22957	protein-coding gene	gene with protein product							Standard	NM_145026		Approved	SPATA8, FLJ25442, SRSP1	uc021yzz.1	Q496A3	OTTHUMG00000014764	ENST00000288390.2:c.624A>G	6.37:g.44336165A>G						SPATS1_uc003oxg.2_RNA|SPATS1_uc010jzb.2_Silent_p.P93P	p.P208P	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	971	+	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		208					Q496A2|Q496A5|Q96LJ0	Silent	SNP	ENST00000288390.2	37	c.624A>G	CCDS4911.1																																																																																				0.393	SPATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040738.2	NM_145026		22	76	0	0	0	0.010504	0	22	76				
GPR115	221393	broad.mit.edu	37	6	47681809	47681809	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:47681809C>A	ENST00000283303.2	+	6	1086	c.828C>A	c.(826-828)ccC>ccA	p.P276P	GPR115_ENST00000371220.1_Silent_p.P333P|GPR115_ENST00000327753.3_Silent_p.P276P|RN7SKP116_ENST00000516902.1_RNA	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	276					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P276P(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TACAGATTCCCAGGCAAGAGC	0.453																																					GBM(22;431 510 9010 26644 32828)	GBM(22;431 510 9010 26644 32828)	uc003oza.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(826-828)CCC>CCA		G-protein coupled receptor 115 precursor							56.0	58.0	57.0					6																	47681809		2203	4300	6503	SO:0001819	synonymous_variant	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47681809C>A	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.828C>A	6.37:g.47681809C>A						GPR115_uc003oyz.1_Silent_p.P333P|GPR115_uc003ozb.1_Silent_p.P274P	p.P276P	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	1086	+			276			Extracellular (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Silent	SNP	ENST00000283303.2	37	c.828C>A	CCDS4922.2																																																																																				0.453	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		13	59	1	0	9.31168e-06	0.001855	1.0996e-05	13	59				
BEND6	221336	broad.mit.edu	37	6	56857323	56857323	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:56857323C>T	ENST00000370746.3	+	3	537	c.268C>T	c.(268-270)Cga>Tga	p.R90*	BEND6_ENST00000370750.2_Nonsense_Mutation_p.R90*|BEND6_ENST00000370748.3_Nonsense_Mutation_p.R90*|BEND6_ENST00000370745.1_Nonsense_Mutation_p.R90*	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	90					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)	p.R90*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AGAAAACAGCCGACTTCGACA	0.363																																							uc010kab.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(268-270)CGA>TGA		BEN domain containing 6							146.0	150.0	148.0					6																	56857323		1812	4076	5888	SO:0001587	stop_gained	221336							g.chr6:56857323C>T	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.268C>T	6.37:g.56857323C>T	ENSP00000359782:p.Arg90*					BEND6_uc003pdg.2_RNA	p.R90*	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN			3	854	+			90			Potential.		Q4G0W8|Q8N662|Q96NS6	Nonsense_Mutation	SNP	ENST00000370746.3	37	c.268C>T	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	C	36	5.619888	0.96660	.	.	ENSG00000151917	ENST00000322055;ENST00000370750;ENST00000370748;ENST00000370746;ENST00000370745	.	.	.	5.13	5.13	0.70059	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0553	16.1023	0.81184	0.0:1.0:0.0:0.0	.	.	.	.	X	90	.	ENSP00000322773:R90X	R	+	1	2	BEND6	56965282	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.421000	0.59848	2.559000	0.86315	0.561000	0.74099	CGA		0.363	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	NM_152731		33	210	0	0	0	0.003755	0	33	210				
MTO1	25821	broad.mit.edu	37	6	74175962	74175962	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:74175962G>T	ENST00000370300.4	+	2	338	c.248G>T	c.(247-249)gGc>gTc	p.G83V	MTO1_ENST00000518210.1_3'UTR|RNU6-975P_ENST00000384296.1_RNA|MTO1_ENST00000370305.1_Missense_Mutation_p.G9V|MTO1_ENST00000498286.1_Missense_Mutation_p.G83V|MTO1_ENST00000415954.2_Missense_Mutation_p.G83V	NM_012123.3|NM_133645.2	NP_036255.2|NP_598400.1	Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	83					mitochondrial tRNA wobble uridine modification (GO:0070899)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|poly(A) RNA binding (GO:0044822)	p.G83V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TCCTTTGGTGGCATCGGAAAG	0.388																																							uc003pgy.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(247-249)GGC>GTC		mitochondrial translation optimization 1 homolog							210.0	195.0	200.0					6																	74175962		2203	4300	6503	SO:0001583	missense	25821				tRNA processing	mitochondrion	flavin adenine dinucleotide binding	g.chr6:74175962G>T	AF132937	CCDS4979.1, CCDS34485.1, CCDS47452.1	6q14.1	2013-05-07	2013-05-07		ENSG00000135297	ENSG00000135297			19261	protein-coding gene	gene with protein product		614667	"""mitochondrial translation optimization 1 homolog (S. cerevisiae)"""			12011058, 22608499	Standard	NM_012123		Approved		uc003pgy.4	Q9Y2Z2	OTTHUMG00000015032	ENST00000370300.4:c.248G>T	6.37:g.74175962G>T	ENSP00000359323:p.Gly83Val					MTO1_uc010kav.2_Missense_Mutation_p.G83V|MTO1_uc003pgz.3_Missense_Mutation_p.G83V|MTO1_uc003pha.3_5'UTR|MTO1_uc003phb.3_Missense_Mutation_p.G9V|MTO1_uc003phc.1_Missense_Mutation_p.G9V	p.G83V	NM_133645	NP_598400	Q9Y2Z2	MTO1_HUMAN			2	372	+			83					B3KQB5|Q5SWL2|Q5SWL3|Q5SWL4|Q8NDN7|Q8WZ57|Q96FE6|Q9BS06	Missense_Mutation	SNP	ENST00000370300.4	37	c.248G>T	CCDS4979.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912218	0.92178	.	.	ENSG00000135297	ENST00000415954;ENST00000498286;ENST00000357845;ENST00000370305;ENST00000370300	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.93769	0.8008	H	0.95437	3.67	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	0.94720	0.7900	10	0.87932	D	0	-15.1162	18.638	0.91385	0.0:0.0:1.0:0.0	.	83;83;83	Q9Y2Z2-6;Q9Y2Z2-4;Q9Y2Z2	.;.;MTO1_HUMAN	V	83;83;83;9;83	ENSP00000402038:G83V;ENSP00000419561:G83V;ENSP00000359328:G9V;ENSP00000359323:G83V	ENSP00000350506:G83V	G	+	2	0	MTO1	74232683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.664000	0.91139	2.843000	0.97960	0.591000	0.81541	GGC		0.388	MTO1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041215.2	NM_012123		18	126	1	0	1.67942e-08	0.006122	2.18659e-08	18	126				
L3MBTL3	84456	broad.mit.edu	37	6	130378627	130378627	+	Silent	SNP	G	G	A	rs368885807		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:130378627G>A	ENST00000529410.1	+	11	1223	c.744G>A	c.(742-744)gcG>gcA	p.A248A	L3MBTL3_ENST00000361794.2_Silent_p.A248A|L3MBTL3_ENST00000368139.2_Silent_p.A223A|L3MBTL3_ENST00000368136.2_Silent_p.A248A|L3MBTL3_ENST00000526019.1_Silent_p.A223A|L3MBTL3_ENST00000533560.1_Silent_p.A223A			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	248					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A248A(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		CAGTGCCGGCGAAGCTGTTCA	0.527																																							uc003qbt.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(1)	6						c.(742-744)GCG>GCA		l(3)mbt-like 3 isoform a		G	,	1,4405	2.1+/-5.4	0,1,2202	60.0	55.0	57.0		669,744	-7.4	0.1	6		57	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	L3MBTL3	NM_001007102.2,NM_032438.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	223/756,248/781	130378627	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84456				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr6:130378627G>A	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.744G>A	6.37:g.130378627G>A						L3MBTL3_uc003qbu.2_Silent_p.A223A	p.A248A	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN		GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)	9	914	+			248			MBT 1.		Q4VXE1|Q5VUM9|Q6P9B5	Silent	SNP	ENST00000529410.1	37	c.744G>A	CCDS34537.1																																																																																				0.527	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074		8	19	0	0	0	0.00308	0	8	19				
BCLAF1	9774	broad.mit.edu	37	6	136599636	136599636	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:136599636C>T	ENST00000531224.1	-	4	635	c.383G>A	c.(382-384)aGa>aAa	p.R128K	BCLAF1_ENST00000527759.1_Missense_Mutation_p.R126K|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R128K|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R126K|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R126K|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R128K	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	128					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R128K(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCGGCGAGATCTGCTTCTGGA	0.463																																					Colon(142;1534 1789 5427 7063 28491)	Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(382-384)AGA>AAA		BCL2-associated transcription factor 1 isoform							189.0	201.0	197.0					6																	136599636		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599636C>T	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.383G>A	6.37:g.136599636C>T	ENSP00000435210:p.Arg128Lys					BCLAF1_uc003qgw.1_Missense_Mutation_p.R128K|BCLAF1_uc003qgy.1_Missense_Mutation_p.R126K|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R126K	p.R128K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	636	-	Colorectal(23;0.24)		128					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.383G>A	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.623262	0.46840	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45;2.45	5.64	4.78	0.61160	.	0.079225	0.53938	N	0.000049	T	0.17280	0.0415	L	0.40543	1.245	0.80722	D	1	P;P;P;P	0.47910	0.902;0.902;0.902;0.902	P;P;P;P	0.60173	0.87;0.87;0.87;0.87	T	0.02539	-1.1144	10	0.25106	T	0.35	-8.0338	14.6071	0.68486	0.0:0.9298:0.0:0.0702	.	126;126;128;128	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	K	128;126;128;128;126;126;128	ENSP00000435210:R128K;ENSP00000229446:R126K;ENSP00000435441:R128K;ENSP00000436501:R128K;ENSP00000434826:R126K;ENSP00000376159:R126K;ENSP00000431734:R128K	ENSP00000229446:R126K	R	-	2	0	BCLAF1	136641329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.059000	0.49947	1.394000	0.46624	0.557000	0.71058	AGA		0.463	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		34	367	0	0	0	0.003755	0	34	367				
GRM1	2911	broad.mit.edu	37	6	146480566	146480566	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:146480566C>A	ENST00000282753.1	+	2	1018	c.783C>A	c.(781-783)atC>atA	p.I261I	GRM1_ENST00000507907.1_Silent_p.I261I|GRM1_ENST00000392299.2_Silent_p.I261I|GRM1_ENST00000492807.2_Silent_p.I261I|GRM1_ENST00000355289.4_Silent_p.I261I|GRM1_ENST00000361719.2_Silent_p.I261I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	261					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.I261I(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CTGACAAAATCTACAGCAACG	0.532																																							uc010khw.1		NA																	2	Substitution - coding silent(2)		lung(2)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(781-783)ATC>ATA		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						103.0	94.0	97.0					6																	146480566		2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480566C>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.783C>A	6.37:g.146480566C>A						GRM1_uc010khu.1_Silent_p.I261I|GRM1_uc010khv.1_Silent_p.I261I|GRM1_uc003qll.2_Silent_p.I261I|GRM1_uc011edz.1_Silent_p.I261I|GRM1_uc011eea.1_Silent_p.I261I	p.I261I	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1253	+		Ovarian(120;0.0387)	261			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.783C>A	CCDS5209.1																																																																																				0.532	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		19	74	1	0	0.000958276	0.007413	0.00106037	19	74				
PDE10A	10846	broad.mit.edu	37	6	165827131	165827131	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:165827131C>G	ENST00000366882.1	-	14	1260	c.1106G>C	c.(1105-1107)tGc>tCc	p.C369S	PDE10A_ENST00000354448.4_Missense_Mutation_p.C369S|PDE10A_ENST00000539869.2_Missense_Mutation_p.C379S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	369	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.C369S(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GATGGGCATGCACAGGATGTT	0.458																																					Esophageal Squamous(22;308 615 5753 12038 40624)	Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1105-1107)TGC>TCC		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						94.0	77.0	83.0					6																	165827131		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165827131C>G	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1106G>C	6.37:g.165827131C>G	ENSP00000355847:p.Cys369Ser					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.C299S|PDE10A_uc003quo.2_Missense_Mutation_p.C379S	p.C369S	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	14	1347	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	369			GAF 2.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1106G>C		.	.	.	.	.	.	.	.	.	.	C	32	5.109764	0.94292	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.67523	-0.27;-0.27	5.63	5.63	0.86233	GAF (2);	0.000000	0.85682	D	0.000000	T	0.79919	0.4529	M	0.80028	2.48	0.80722	D	1	D;D	0.69078	0.997;0.977	D;D	0.80764	0.994;0.978	T	0.76691	-0.2866	10	0.33141	T	0.24	.	19.7096	0.96089	0.0:1.0:0.0:0.0	.	379;369	Q9ULW9;Q9Y233	.;PDE10_HUMAN	S	369;397;379;369;368	ENSP00000355847:C369S;ENSP00000346435:C369S	ENSP00000341187:C379S	C	-	2	0	PDE10A	165747121	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.329000	0.79170	2.652000	0.90054	0.655000	0.94253	TGC		0.458	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			7	33	0	0	0	0.001984	0	7	33				
THBS2	7058	broad.mit.edu	37	6	169648870	169648870	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:169648870A>C	ENST00000366787.3	-	4	500	c.251T>G	c.(250-252)tTc>tGc	p.F84C		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	84	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.F84C(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGTGAGGAAGAAGCCCTCCTT	0.622																																					Esophageal Squamous(91;219 1934 18562 44706)	Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(250-252)TTC>TGC		thrombospondin 2 precursor							137.0	116.0	123.0					6																	169648870		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648870A>C		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.251T>G	6.37:g.169648870A>C	ENSP00000355751:p.Phe84Cys						p.F84C	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	499	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	84			TSP N-terminal.|Heparin-binding (Potential).		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.251T>G	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	A	15.62	2.886439	0.51908	.	.	ENSG00000186340	ENST00000366787	T	0.03772	3.81	4.42	4.42	0.53409	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.42821	U	0.000647	T	0.14570	0.0352	M	0.81942	2.565	0.49483	D	0.999795	D	0.89917	1.0	D	0.87578	0.998	T	0.00891	-1.1525	10	0.87932	D	0	-37.6551	13.9786	0.64287	1.0:0.0:0.0:0.0	.	84	P35442	TSP2_HUMAN	C	84	ENSP00000355751:F84C	ENSP00000355751:F84C	F	-	2	0	THBS2	169390795	1.000000	0.71417	0.998000	0.56505	0.013000	0.08279	8.712000	0.91403	1.771000	0.52183	0.379000	0.24179	TTC		0.622	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		12	51	0	0	0	0.001368	0	12	51				
EIF3B	8662	broad.mit.edu	37	7	2409266	2409266	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:2409266G>A	ENST00000360876.4	+	10	1619	c.1563G>A	c.(1561-1563)aaG>aaA	p.K521K	EIF3B_ENST00000397011.2_Silent_p.K521K	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B									p.K521K(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		ATTGGCAGAAGAACGGAGACT	0.502																																							uc003slx.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1561-1563)AAG>AAA		eukaryotic translation initiation factor 3,							132.0	120.0	124.0					7																	2409266		2203	4300	6503	SO:0001819	synonymous_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2409266G>A	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.1563G>A	7.37:g.2409266G>A						EIF3B_uc003sly.2_Silent_p.K521K|EIF3B_uc003sma.2_Silent_p.K249K	p.K521K	NM_003751	NP_003742	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	10	1646	+		Ovarian(82;0.0253)	521						Silent	SNP	ENST00000360876.4	37	c.1563G>A	CCDS5332.1																																																																																				0.502	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			15	119	0	0	0	0.00499	0	15	119				
THSD7A	221981	broad.mit.edu	37	7	11630169	11630169	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:11630169C>A	ENST00000423059.4	-	4	1622	c.1371G>T	c.(1369-1371)ggG>ggT	p.G457G		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	457	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G457G(2)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTGGATGCCCCCTCCACAGA	0.552										HNSCC(18;0.044)																													uc003ssf.3		NA																	2	Substitution - coding silent(2)		upper_aerodigestive_tract(1)|lung(1)	ovary(3)	3						c.(1369-1371)GGG>GGT		thrombospondin, type I, domain containing 7A							60.0	66.0	64.0					7																	11630169		1963	4153	6116	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11630169C>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1371G>T	7.37:g.11630169C>A		HNSCC(18;0.044)					p.G457G	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	4	1623	-			457			Extracellular (Potential).|TSP type-1 4.			Silent	SNP	ENST00000423059.4	37	c.1371G>T	CCDS47543.1																																																																																				0.552	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		8	35	1	0	3.09899e-07	0.004482	3.85895e-07	8	35				
GHRHR	2692	broad.mit.edu	37	7	31008552	31008552	+	Splice_Site	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:31008552G>T	ENST00000326139.2	+	2	206		c.e2+1		GHRHR_ENST00000409316.1_5'Flank|GHRHR_ENST00000409904.3_5'Flank	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor						activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)	p.?(1)		biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	ACCACCCTGGGTATGGGGCCT	0.567																																							uc003tbx.2		NA																	1	Unknown(1)		lung(1)	ovary(2)|lung(1)|breast(1)|large_intestine(1)	5						c.e2+1		growth hormone releasing hormone receptor	Sermorelin(DB00010)						95.0	78.0	84.0					7																	31008552		2203	4300	6503	SO:0001630	splice_region_variant	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31008552G>T		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.160+1G>T	7.37:g.31008552G>T						GHRHR_uc003tbw.1_Splice_Site_p.G54_splice|GHRHR_uc003tby.2_5'Flank|GHRHR_uc003tbz.2_5'Flank	p.G54_splice	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			2	208	+								Q99863	Splice_Site	SNP	ENST00000326139.2	37	c.160_splice	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756238	0.31137	.	.	ENSG00000106128	ENST00000326139	.	.	.	4.41	3.5	0.40072	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5468	0.33426	0.1084:0.0:0.8916:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GHRHR	30975077	1.000000	0.71417	0.945000	0.38365	0.106000	0.19336	2.989000	0.49393	2.318000	0.78349	0.650000	0.86243	.		0.567	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2		Intron	8	35	1	0	1.06961e-07	0.00308	1.3654e-07	8	35				
TBX20	57057	broad.mit.edu	37	7	35293192	35293192	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:35293192G>A	ENST00000408931.3	-	1	566	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	14					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R14W(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GCGTTGGCCCGAGAGGAGAGT	0.642																																							uc011kas.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(40-42)CGG>TGG		T-box transcription factor TBX20							47.0	49.0	48.0					7																	35293192		2203	4300	6503	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35293192G>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.40C>T	7.37:g.35293192G>A	ENSP00000386170:p.Arg14Trp						p.R14W	NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN			1	51	-			14					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.40C>T	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024900	0.75390	.	.	ENSG00000164532	ENST00000408931	D	0.90261	-2.64	5.07	3.19	0.36642	.	0.000000	0.85682	D	0.000000	D	0.91209	0.7230	L	0.29908	0.895	0.58432	D	0.999997	D	0.89917	1.0	D	0.71414	0.973	D	0.90787	0.4683	10	0.87932	D	0	.	12.4863	0.55874	0.0:0.0:0.5318:0.4682	.	14	Q9UMR3	TBX20_HUMAN	W	14	ENSP00000386170:R14W	ENSP00000386170:R14W	R	-	1	2	TBX20	35259717	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.569000	0.45973	0.479000	0.27511	0.462000	0.41574	CGG		0.642	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		10	44	0	0	0	0.001368	0	10	44				
COBL	23242	broad.mit.edu	37	7	51096436	51096436	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:51096436C>A	ENST00000265136.7	-	10	2522	c.2357G>T	c.(2356-2358)aGc>aTc	p.S786I	COBL_ENST00000395542.2_Missense_Mutation_p.S868I	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	786					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)	p.S786I(1)		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)					CCTGGCAGAGCTCTCTGAGGG	0.587																																					NSCLC(189;2119 2138 12223 30818 34679)	NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2356-2358)AGC>ATC		cordon-bleu homolog							39.0	43.0	42.0					7																	51096436		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51096436C>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.2357G>T	7.37:g.51096436C>A	ENSP00000265136:p.Ser786Ile					COBL_uc003tps.2_Missense_Mutation_p.S843I|COBL_uc011kcl.1_Missense_Mutation_p.S786I|COBL_uc003tpp.3_Missense_Mutation_p.S572I|COBL_uc003tpq.3_Missense_Mutation_p.S727I|COBL_uc003tpo.3_Missense_Mutation_p.S328I	p.S786I	NM_015198	NP_056013	O75128	COBL_HUMAN			10	2542	-	Glioma(55;0.08)		786					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.2357G>T	CCDS34637.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.723|5.723	0.317856|0.317856	0.10845|0.10845	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000457306|ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	.|T;T;T;T	.|0.12147	.|2.72;2.72;2.71;2.71	4.77|4.77	-3.51|-3.51	0.04696|0.04696	.|.	.|1.901960	.|0.02612	.|N	.|0.102233	T|T	0.07369|0.07369	0.0186|0.0186	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B;B;B;B;P	.|0.37276	.|0.145;0.145;0.128;0.302;0.589	.|B;B;B;B;B	.|0.29353	.|0.099;0.099;0.029;0.099;0.101	T|T	0.26430|0.26430	-1.0103|-1.0103	6|10	0.87932|0.20046	D|T	0|0.44	.|.	6.5122|6.5122	0.22228|0.22228	0.0:0.2896:0.2241:0.4863|0.0:0.2896:0.2241:0.4863	.|.	.|786;843;786;868;328	.|O75128-3;O75128-7;O75128;O75128-2;O75128-6	.|.;.;COBL_HUMAN;.;.	S|I	232|786;678;671;868	.|ENSP00000265136:S786I;ENSP00000401204:S678I;ENSP00000413498:S671I;ENSP00000378912:S868I	ENSP00000397300:A232S|ENSP00000265136:S786I	A|S	-|-	1|2	0|0	COBL|COBL	51063930|51063930	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.074000|-0.074000	0.11450|0.11450	-0.639000|-0.639000	0.05502|0.05502	-1.583000|-1.583000	0.00853|0.00853	GCT|AGC		0.587	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		9	66	1	0	0.000442599	0.006214	0.000496973	9	66				
ASL	435	broad.mit.edu	37	7	65552720	65552720	+	Silent	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:65552720C>G	ENST00000304874.9	+	10	762	c.660C>G	c.(658-660)ctC>ctG	p.L220L	AC068533.7_ENST00000450043.1_5'Flank|ASL_ENST00000395332.3_Silent_p.L220L|ASL_ENST00000395331.3_Silent_p.L220L|ASL_ENST00000380839.4_Silent_p.L194L	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	220					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)	p.L220L(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CCCCAGAACTCAACTTTGGGG	0.627																																							uc003tuo.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(658-660)CTC>CTG		argininosuccinate lyase isoform 1	L-Arginine(DB00125)						79.0	68.0	72.0					7																	65552720		2203	4300	6503	SO:0001819	synonymous_variant	435				arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	g.chr7:65552720C>G		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.660C>G	7.37:g.65552720C>G						ASL_uc003tup.2_Silent_p.L220L|ASL_uc003tur.2_Silent_p.L194L|ASL_uc003tuq.2_Silent_p.L220L	p.L220L	NM_000048	NP_000039	P04424	ARLY_HUMAN			10	771	+			220					E7EMI0|E9PE48|Q6LDS5|Q96HS2	Silent	SNP	ENST00000304874.9	37	c.660C>G	CCDS5531.1																																																																																				0.627	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251695.2	NM_000048		3	30	0	0	0	0.004672	0	3	30				
WBSCR17	64409	broad.mit.edu	37	7	70880974	70880974	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:70880974G>T	ENST00000333538.5	+	4	1323	c.689G>T	c.(688-690)cGc>cTc	p.R230L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	230	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)	p.R230H(1)|p.R230L(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATCCGCGCTCGCATTGAGGGC	0.582																																							uc003tvy.2		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(688-690)CGC>CTC		UDP-GalNAc:polypeptide							88.0	75.0	79.0					7																	70880974		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70880974G>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.689G>T	7.37:g.70880974G>T	ENSP00000329654:p.Arg230Leu					WBSCR17_uc003tvz.2_5'UTR	p.R230L	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			4	689	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	230			Catalytic subdomain A.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.689G>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314130	0.95655	.	.	ENSG00000185274	ENST00000333538	T	0.60040	0.22	5.04	5.04	0.67666	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.80380	0.4612	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84738	0.0749	10	0.87932	D	0	.	17.3775	0.87396	0.0:0.0:1.0:0.0	.	230	Q6IS24	GLTL3_HUMAN	L	230	ENSP00000329654:R230L	ENSP00000329654:R230L	R	+	2	0	WBSCR17	70518910	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.378000	0.97191	2.351000	0.79841	0.462000	0.41574	CGC		0.582	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		6	47	1	0	0.00116845	0.001168	0.00128053	6	47				
GTF2IRD1	9569	broad.mit.edu	37	7	73935550	73935550	+	Missense_Mutation	SNP	C	C	G	rs587619221		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:73935550C>G	ENST00000265755.3	+	7	1322	c.929C>G	c.(928-930)aCt>aGt	p.T310S	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.T310S|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.T342S|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.T310S	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	310					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T310S(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAGAAGCCCACTGGGCCTGGT	0.607																																							uc003uaq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(928-930)ACT>AGT		GTF2I repeat domain containing 1 isoform 1							73.0	66.0	69.0					7																	73935550		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73935550C>G	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.929C>G	7.37:g.73935550C>G	ENSP00000265755:p.Thr310Ser					GTF2IRD1_uc010lbq.2_Missense_Mutation_p.T342S|GTF2IRD1_uc003uap.2_Missense_Mutation_p.T310S|GTF2IRD1_uc003uar.1_Missense_Mutation_p.T310S	p.T310S	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN			7	1322	+			310					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.929C>G	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	C	0.348	-0.946469	0.02304	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.29397	1.58;1.58;1.58;1.57	3.99	3.11	0.35812	.	1.040630	0.07518	N	0.910105	T	0.18425	0.0442	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.002;0.002	T	0.12630	-1.0540	10	0.08599	T	0.76	-0.002	11.707	0.51603	0.0:0.9115:0.0:0.0885	.	342;310;310;310	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	S	310;342;310;310	ENSP00000265755:T310S;ENSP00000397566:T342S;ENSP00000408477:T310S;ENSP00000418383:T310S	ENSP00000265755:T310S	T	+	2	0	GTF2IRD1	73573486	0.008000	0.16893	0.002000	0.10522	0.377000	0.30045	2.230000	0.42999	1.268000	0.44264	-0.258000	0.10820	ACT		0.607	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		11	56	0	0	0	0.008291	0	11	56				
NCF1	653361	broad.mit.edu	37	7	74193606	74193606	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:74193606C>A	ENST00000289473.4	+	4	303	c.233C>A	c.(232-234)cCc>cAc	p.P78H	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	78	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.P78H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	GTGCCAGCTCCCAAGTGGTTT	0.672																																							uc003ubb.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(232-234)CCC>CAC		neutrophil cytosolic factor 1							33.0	30.0	31.0					7																	74193606		2196	4266	6462	SO:0001583	missense	653361				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity	g.chr7:74193606C>A	M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"""NADPH oxidase organizer 2"", ""chronic granulomatous disease, autosomal 1"""	608512	"""neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"""				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.233C>A	7.37:g.74193606C>A	ENSP00000289473:p.Pro78His					NCF1_uc010lbs.1_Missense_Mutation_p.P78H|NCF1_uc011kfh.1_Intron	p.P78H	NM_000265	NP_000256	P14598	NCF1_HUMAN			4	303	+			78			PX.		A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Missense_Mutation	SNP	ENST00000289473.4	37	c.233C>A	CCDS34657.1	.	.	.	.	.	.	.	.	.	.	c	17.44	3.389525	0.61956	.	.	ENSG00000158517	ENST00000289473;ENST00000433458;ENST00000471594;ENST00000442021	T;T;T	0.39592	1.07;1.07;1.07	3.38	3.38	0.38709	Phox homologous domain (5);	0.110494	0.64402	D	0.000006	T	0.49745	0.1575	M	0.89478	3.035	0.80722	D	1	P;P	0.51933	0.919;0.949	B;B	0.41299	0.21;0.353	T	0.65162	-0.6235	10	0.49607	T	0.09	-24.7579	14.1418	0.65325	0.0:1.0:0.0:0.0	.	78;78	P14598-2;P14598	.;NCF1_HUMAN	H	78;78;52;85	ENSP00000289473:P78H;ENSP00000392870:P78H;ENSP00000401935:P85H	ENSP00000289473:P78H	P	+	2	0	NCF1	73831542	1.000000	0.71417	0.053000	0.19242	0.682000	0.39822	7.165000	0.77544	1.631000	0.50456	0.442000	0.29010	CCC		0.672	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265		12	70	1	0	6.31663e-08	0.003163	8.1087e-08	12	70				
MEPCE	56257	broad.mit.edu	37	7	100028300	100028300	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:100028300C>T	ENST00000310512.2	+	1	1047	c.659C>T	c.(658-660)cCg>cTg	p.P220L	ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	220					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.P220L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCCCCCTTCCGGCCAAAGGG	0.547																																							uc003uuw.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(658-660)CCG>CTG		bin3, bicoid-interacting 3							86.0	91.0	89.0					7																	100028300		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028300C>T	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.659C>T	7.37:g.100028300C>T	ENSP00000308546:p.Pro220Leu					ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR	p.P220L	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN			1	772	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		220					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.659C>T	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336049	0.81801	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.69405	0.3107	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.64506	0.926	T	0.70204	-0.4936	9	0.49607	T	0.09	-16.7143	15.3125	0.74045	0.0:1.0:0.0:0.0	.	220	Q7L2J0	MEPCE_HUMAN	L	220	.	ENSP00000308546:P220L	P	+	2	0	MEPCE	99866236	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.077000	0.64419	2.482000	0.83794	0.491000	0.48974	CCG		0.547	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			28	124	0	0	0	0.005443	0	28	124				
RELN	5649	broad.mit.edu	37	7	103202032	103202032	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:103202032C>A	ENST00000428762.1	-	36	5635	c.5476G>T	c.(5476-5478)Ggg>Tgg	p.G1826W	RELN_ENST00000424685.2_Missense_Mutation_p.G1826W|RELN_ENST00000343529.5_Missense_Mutation_p.G1826W	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1826					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.G1826W(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCAGATTCCCCCTCTCTGCA	0.408																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(5476-5478)GGG>TGG		reelin isoform a							121.0	122.0	122.0					7																	103202032		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103202032C>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.5476G>T	7.37:g.103202032C>A	ENSP00000392423:p.Gly1826Trp					RELN_uc010liz.2_Missense_Mutation_p.G1826W	p.G1826W	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	36	5636	-			1826					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5476G>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680194	0.88542	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.29397	1.57;1.57;1.57	5.86	5.86	0.93980	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.57755	0.2075	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.57365	-0.7824	10	0.87932	D	0	.	20.1911	0.98230	0.0:1.0:0.0:0.0	.	1826;1826	P78509-2;P78509	.;RELN_HUMAN	W	1826	ENSP00000392423:G1826W;ENSP00000345694:G1826W;ENSP00000388446:G1826W	ENSP00000345694:G1826W	G	-	1	0	RELN	102989268	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.294000	0.78760	2.779000	0.95612	0.563000	0.77884	GGG		0.408	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		13	92	1	0	0.000151284	0.001855	0.00017503	13	92				
DOCK4	9732	broad.mit.edu	37	7	111555894	111555894	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:111555894C>G	ENST00000437633.1	-	13	1388	c.1132G>C	c.(1132-1134)Gta>Cta	p.V378L	DOCK4_ENST00000428084.1_Missense_Mutation_p.V378L|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	378					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.V378L(1)|p.V366L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGAGAAAATACTGATGAATAT	0.383																																							uc003vfx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(1132-1134)GTA>CTA		dedicator of cytokinesis 4							61.0	55.0	57.0					7																	111555894		1817	4081	5898	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111555894C>G		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1132G>C	7.37:g.111555894C>G	ENSP00000404179:p.Val378Leu					DOCK4_uc003vfy.2_Missense_Mutation_p.V378L|DOCK4_uc003vga.1_5'UTR	p.V378L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			13	1401	-		Acute lymphoblastic leukemia(1;0.0441)	378					O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.1132G>C	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.770|4.770	0.143199|0.143199	0.09083|0.09083	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000445943|ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	.|T;T	.|0.01854	.|4.6;4.6	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	.|0.111229	.|0.64402	.|D	.|0.000008	T|T	0.00815|0.00815	0.0027|0.0027	N|N	0.00504|0.00504	-1.425|-1.425	0.80722|0.80722	D|D	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.50363|0.50363	-0.8837|-0.8837	5|10	.|0.02654	.|T	.|1	.|.	13.3051|13.3051	0.60347|0.60347	0.0:0.9246:0.0:0.0754|0.0:0.9246:0.0:0.0754	.|.	.|378;378	.|Q149N5;Q8N1I0	.|.;DOCK4_HUMAN	H|L	365|366;378;378;366;377	.|ENSP00000410746:V378L;ENSP00000404179:V378L	.|ENSP00000345432:V366L	Q|V	-|-	3|1	2|0	DOCK4|DOCK4	111343130|111343130	0.988000|0.988000	0.35896|0.35896	0.356000|0.356000	0.25785|0.25785	0.984000|0.984000	0.73092|0.73092	2.653000|2.653000	0.46691|0.46691	2.868000|2.868000	0.98415|0.98415	0.555000|0.555000	0.69702|0.69702	CAG|GTA		0.383	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		4	29	0	0	0	0.009096	0	4	29				
SND1	27044	broad.mit.edu	37	7	127729612	127729612	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:127729612G>T	ENST00000354725.3	+	22	2684	c.2490G>T	c.(2488-2490)gtG>gtT	p.V830V		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	830					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.V830V(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TGCTCAACGTGGAACACCTGA	0.607																																							uc003vmi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2488-2490)GTG>GTT		staphylococcal nuclease domain containing 1							146.0	129.0	135.0					7																	127729612		2203	4300	6503	SO:0001819	synonymous_variant	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127729612G>T		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2490G>T	7.37:g.127729612G>T						SND1_uc010lle.2_Silent_p.V483V	p.V830V	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN			22	2716	+			830					Q13122|Q96AG0	Silent	SNP	ENST00000354725.3	37	c.2490G>T	CCDS34747.1																																																																																				0.607	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		15	51	1	0	3.45872e-05	0.004007	4.04254e-05	15	51				
TMEM209	84928	broad.mit.edu	37	7	129825206	129825206	+	Splice_Site	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:129825206C>G	ENST00000397622.2	-	7	899	c.777G>C	c.(775-777)ggG>ggC	p.G259G	TMEM209_ENST00000336804.8_Splice_Site_p.G258G|TMEM209_ENST00000473456.1_Splice_Site_p.G259G|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000462753.1_Splice_Site_p.G258G	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	259						integral component of membrane (GO:0016021)		p.G258G(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					AATCTGGGCTCCCTACAATTG	0.398																																							uc003vpn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(775-777)GGG>GGC		transmembrane protein 209							125.0	122.0	123.0					7																	129825206		1877	4108	5985	SO:0001630	splice_region_variant	84928					integral to membrane		g.chr7:129825206C>G		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.776-1G>C	7.37:g.129825206C>G						TMEM209_uc010lmc.1_Silent_p.G259G	p.G259G	NM_032842	NP_116231	Q96SK2	TM209_HUMAN			7	900	-	Melanoma(18;0.0435)		259					A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Silent	SNP	ENST00000397622.2	37	c.777G>C	CCDS47712.1																																																																																				0.398	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842	Silent	30	118	0	0	0	0.002096	0	30	118				
OR2A14	135941	broad.mit.edu	37	7	143826661	143826661	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:143826661C>T	ENST00000408899.2	+	1	511	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F152F(2)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGTTCAGCTTCCTCCTGGCTC	0.532																																							uc011kua.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(454-456)TTC>TTT		olfactory receptor, family 2, subfamily A,							195.0	214.0	207.0					7																	143826661		2153	4261	6414	SO:0001819	synonymous_variant	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826661C>T		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.456C>T	7.37:g.143826661C>T							p.F152F	NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN			1	456	+	Melanoma(164;0.0783)		152			Helical; Name=4; (Potential).		Q6IF41|Q8NGT8	Silent	SNP	ENST00000408899.2	37	c.456C>T	CCDS43672.1																																																																																				0.532	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			39	309	0	0	0	0.00623	0	39	309				
CNTNAP2	26047	broad.mit.edu	37	7	146997306	146997306	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:146997306C>G	ENST00000361727.3	+	9	1938	c.1422C>G	c.(1420-1422)atC>atG	p.I474M		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	474	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.I474M(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTCTCACCATCGATGGAGATG	0.418										HNSCC(39;0.1)																													uc003weu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1420-1422)ATC>ATG		cell recognition molecule Caspr2 precursor							160.0	146.0	151.0					7																	146997306		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146997306C>G	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1422C>G	7.37:g.146997306C>G	ENSP00000354778:p.Ile474Met	HNSCC(39;0.1)					p.I474M	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		9	1938	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	474			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1422C>G	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701003	0.68501	.	.	ENSG00000174469	ENST00000361727	T	0.79141	-1.24	5.95	-4.43	0.03568	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.078533	0.47852	D	0.000212	D	0.83027	0.5165	M	0.78049	2.395	0.80722	D	1	D	0.60575	0.988	P	0.61003	0.882	T	0.83326	-0.0015	10	0.87932	D	0	.	13.3408	0.60542	0.0:0.5399:0.0:0.4601	.	474	Q9UHC6	CNTP2_HUMAN	M	474	ENSP00000354778:I474M	ENSP00000354778:I474M	I	+	3	3	CNTNAP2	146628239	0.776000	0.28616	0.864000	0.33941	0.979000	0.70002	-0.196000	0.09532	-1.030000	0.03312	-0.471000	0.05019	ATC		0.418	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			18	76	0	0	0	0.006122	0	18	76				
PDIA4	9601	broad.mit.edu	37	7	148702338	148702338	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:148702338C>A	ENST00000286091.4	-	9	1649	c.1417G>T	c.(1417-1419)Gat>Tat	p.D473Y		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	473					cell redox homeostasis (GO:0045454)|chaperone-mediated protein folding (GO:0061077)|protein folding (GO:0006457)|protein secretion (GO:0009306)|response to endoplasmic reticulum stress (GO:0034976)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)	p.D473Y(1)		large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			GCATTGACATCCTCCCCACTC	0.572											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003wff.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(1)	6						c.(1417-1419)GAT>TAT		protein disulfide isomerase A4 precursor							216.0	177.0	190.0					7																	148702338		2203	4300	6503	SO:0001583	missense	9601				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr7:148702338C>A	BC001928	CCDS5893.1	7q35	2009-11-20	2005-06-29		ENSG00000155660	ENSG00000155660	5.3.4.1	"""Protein disulfide isomerases"""	30167	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 4"""			2549034, 2002068	Standard	NM_004911		Approved	ERP70, ERP72	uc003wff.2	P13667	OTTHUMG00000150248	ENST00000286091.4:c.1417G>T	7.37:g.148702338C>A	ENSP00000286091:p.Asp473Tyr		OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1719		p.D473Y	NM_004911	NP_004902	P13667	PDIA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00385)		9	1699	-	Melanoma(164;0.15)		473					A8K4K6|Q549T6	Missense_Mutation	SNP	ENST00000286091.4	37	c.1417G>T	CCDS5893.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702489	0.88924	.	.	ENSG00000155660	ENST00000286091	T	0.13778	2.56	5.0	5.0	0.66597	Thioredoxin-like fold (1);	0.148213	0.64402	D	0.000010	T	0.26048	0.0635	M	0.62723	1.935	0.80722	D	1	D	0.54964	0.969	P	0.49502	0.613	T	0.02625	-1.1132	10	0.72032	D	0.01	.	18.331	0.90268	0.0:1.0:0.0:0.0	.	473	P13667	PDIA4_HUMAN	Y	473	ENSP00000286091:D473Y	ENSP00000286091:D473Y	D	-	1	0	PDIA4	148333271	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	7.542000	0.82095	2.328000	0.79073	0.655000	0.94253	GAT		0.572	PDIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317077.1	NM_004911		21	124	1	0	0.000586117	0.003954	0.000656508	21	124				
RP1L1	94137	broad.mit.edu	37	8	10468217	10468217	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:10468217C>T	ENST00000382483.3	-	4	3614	c.3391G>A	c.(3391-3393)Gac>Aac	p.D1131N		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1131					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.D1131N(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GACCCAAGGTCTTCCTCAAAT	0.592																																							uc003wtc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(3391-3393)GAC>AAC		retinitis pigmentosa 1-like 1							64.0	74.0	71.0					8																	10468217		1989	4163	6152	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10468217C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3391G>A	8.37:g.10468217C>T	ENSP00000371923:p.Asp1131Asn						p.D1131N	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3620	-			1131					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.3391G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876306	0.33162	.	.	ENSG00000183638	ENST00000382483	T	0.78364	-1.17	4.74	1.93	0.25924	.	0.686551	0.11973	N	0.511516	T	0.62732	0.2452	L	0.29908	0.895	0.09310	N	1	P	0.35272	0.493	B	0.26864	0.074	T	0.51244	-0.8730	10	0.66056	D	0.02	-5.1487	9.0421	0.36325	0.0:0.6422:0.2803:0.0774	.	1131	A6NKC6	.	N	1131	ENSP00000371923:D1131N	ENSP00000371923:D1131N	D	-	1	0	RP1L1	10505627	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.861000	0.27885	0.206000	0.20587	0.561000	0.74099	GAC		0.592	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			20	92	0	0	0	0.007413	0	20	92				
TUSC3	7991	broad.mit.edu	37	8	15398024	15398024	+	Missense_Mutation	SNP	C	C	T	rs545107135		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:15398024C>T	ENST00000503731.1	+	1	233	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F	TUSC3_ENST00000506802.1_Missense_Mutation_p.L29F|TUSC3_ENST00000509380.1_Missense_Mutation_p.L29F|TUSC3_ENST00000382020.4_Missense_Mutation_p.L29F|TUSC3_ENST00000503191.1_Intron	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	29					cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.L29F(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TCCCTTCCTTCTCCTGCTGCT	0.687																																							uc003wwt.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(85-87)CTC>TTC		tumor suppressor candidate 3 isoform a							30.0	31.0	31.0					8																	15398024		2201	4297	6498	SO:0001583	missense	7991				cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chr8:15398024C>T	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.85C>T	8.37:g.15398024C>T	ENSP00000424544:p.Leu29Phe					TUSC3_uc003wwr.2_Missense_Mutation_p.L29F|TUSC3_uc003wws.2_Missense_Mutation_p.L29F|TUSC3_uc003wwu.2_Missense_Mutation_p.L29F|TUSC3_uc003wwv.2_Missense_Mutation_p.L29F|TUSC3_uc003www.2_Missense_Mutation_p.L29F|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.L29F	p.L29F	NM_006765	NP_006756	Q13454	TUSC3_HUMAN		Colorectal(111;0.113)	1	295	+			29			Helical; (Potential).		A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	ENST00000503731.1	37	c.85C>T	CCDS5994.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702622	0.68501	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.50813	0.73;0.73;0.74;0.73	4.2	4.2	0.49525	.	0.354249	0.22550	N	0.058608	T	0.48589	0.1508	N	0.14661	0.345	0.35227	D	0.776564	D;D;D;D;D;D	0.65815	0.984;0.984;0.991;0.984;0.984;0.995	P;P;D;P;P;D	0.70487	0.86;0.86;0.934;0.86;0.86;0.969	T	0.56950	-0.7894	10	0.41790	T	0.15	-4.7725	12.3516	0.55151	0.0:1.0:0.0:0.0	.	29;29;29;29;29;29	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	F	29	ENSP00000371450:L29F;ENSP00000425777:L29F;ENSP00000423426:L29F;ENSP00000424544:L29F	ENSP00000221167:L29F	L	+	1	0	TUSC3	15442395	0.990000	0.36364	0.897000	0.35233	0.579000	0.36224	3.179000	0.50887	2.640000	0.89533	0.563000	0.77884	CTC		0.687	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365367.1	NM_006765		6	32	0	0	0	0.001168	0	6	32				
XPO7	23039	broad.mit.edu	37	8	21833878	21833878	+	Silent	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:21833878G>A	ENST00000252512.9	+	7	709	c.609G>A	c.(607-609)aaG>aaA	p.K203K	XPO7_ENST00000433566.4_Silent_p.K204K|XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000434536.1_Silent_p.K212K	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	203					mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)	p.K203K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CTTCAGGAAAGAATCTAAACT	0.433																																							uc003xaa.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5						c.(607-609)AAG>AAA		exportin 7 isoform b							201.0	198.0	199.0					8																	21833878		1916	4150	6066	SO:0001819	synonymous_variant	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21833878G>A	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.609G>A	8.37:g.21833878G>A						XPO7_uc010lti.2_Silent_p.K212K|XPO7_uc010ltj.1_RNA|XPO7_uc010ltk.2_Silent_p.K204K	p.K203K	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	7	711	+			203					O94846|Q6PJK9|Q8NEK7	Silent	SNP	ENST00000252512.9	37	c.609G>A	CCDS47818.1																																																																																				0.433	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024		42	238	0	0	0	0.00361	0	42	238				
ADAM32	203102	broad.mit.edu	37	8	39068732	39068732	+	Silent	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:39068732G>T	ENST00000379907.4	+	12	1249	c.1122G>T	c.(1120-1122)gtG>gtT	p.V374V	ADAM32_ENST00000519315.1_Intron|ADAM32_ENST00000437682.2_Intron	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	374	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.V373V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTTCAAATGTGGGTGTCAAAT	0.383																																							uc003xmt.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|kidney(1)	3						c.(1120-1122)GTG>GTT		a disintegrin and metalloprotease domain 32							103.0	100.0	101.0					8																	39068732		1816	4084	5900	SO:0001819	synonymous_variant	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39068732G>T	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1122G>T	8.37:g.39068732G>T						ADAM32_uc011lch.1_Intron|ADAM32_uc003xmu.3_Intron	p.V374V	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		12	1367	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	374			Peptidase M12B.|Extracellular (Potential).		Q8TC42	Silent	SNP	ENST00000379907.4	37	c.1122G>T	CCDS47846.1																																																																																				0.383	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		8	55	1	0	0.00307968	0.00308	0.00330379	8	55				
ZFHX4	79776	broad.mit.edu	37	8	77767112	77767112	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:77767112G>A	ENST00000521891.2	+	10	8403	c.7955G>A	c.(7954-7956)tGg>tAg	p.W2652*	ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.W2607*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.W2626*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.W2607*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2607					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.W2636*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTGCAAGTCTGGTTCCAGAAT	0.498										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(7819-7821)TGG>TAG		zinc finger homeodomain 4							51.0	53.0	52.0					8																	77767112		1884	4132	6016	SO:0001587	stop_gained	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767112G>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7955G>A	8.37:g.77767112G>A	ENSP00000430497:p.Trp2652*	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Nonsense_Mutation_p.W2652*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.W2607*	p.W2607*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8207	+			2607			Homeobox 3.		G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	c.7820G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	50	17.044528	0.99878	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	4.99	4.99	0.66335	.	0.000000	0.42053	U	0.000761	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4467	0.90686	0.0:0.0:1.0:0.0	.	.	.	.	X	2652;2636;2607;2607;2626	.	ENSP00000050961:W2607X	W	+	2	0	ZFHX4	77929667	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.657000	0.98554	2.591000	0.87537	0.455000	0.32223	TGG		0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		20	102	0	0	0	0.00278	0	20	102				
FBXO43	286151	broad.mit.edu	37	8	101154184	101154184	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:101154184C>G	ENST00000428847.2	-	2	614	c.298G>C	c.(298-300)Ggc>Cgc	p.G100R		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	100					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G66R(2)|p.G100R(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AATGTTGGGCCTTTTTCTTTC	0.348																																							uc003yjd.2		NA																	3	Substitution - Missense(3)		lung(3)	kidney(1)|skin(1)	2						c.(298-300)GGC>CGC		F-box protein 43 isoform b							77.0	71.0	73.0					8																	101154184		1812	4071	5883	SO:0001583	missense	286151				meiosis		zinc ion binding	g.chr8:101154184C>G	BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.298G>C	8.37:g.101154184C>G	ENSP00000403293:p.Gly100Arg					FBXO43_uc003yje.2_Missense_Mutation_p.G66R|FBXO43_uc010mbp.1_Missense_Mutation_p.G100R	p.G100R	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)		2	1011	-	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		100						Missense_Mutation	SNP	ENST00000428847.2	37	c.298G>C	CCDS47904.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740329	0.30865	.	.	ENSG00000156509	ENST00000428847	T	0.33216	1.42	5.12	3.32	0.38043	.	0.784192	0.12009	N	0.508117	T	0.34250	0.0891	L	0.50333	1.59	0.09310	N	1	P;P	0.48162	0.906;0.839	P;P	0.46758	0.526;0.448	T	0.10636	-1.0621	10	0.54805	T	0.06	0.0975	9.7732	0.40603	0.0:0.756:0.0:0.244	.	66;100	C9J908;Q4G163	.;FBX43_HUMAN	R	100	ENSP00000403293:G100R	ENSP00000403293:G100R	G	-	1	0	FBXO43	101223360	0.000000	0.05858	0.164000	0.22755	0.249000	0.25844	0.254000	0.18314	0.653000	0.30826	-0.251000	0.11542	GGC		0.348	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380380.1	XM_209918		14	79	0	0	0	0.00245	0	14	79				
CSMD3	114788	broad.mit.edu	37	8	113349928	113349928	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:113349928G>C	ENST00000297405.5	-	43	6929	c.6685C>G	c.(6685-6687)Ccg>Gcg	p.P2229A	CSMD3_ENST00000352409.3_Missense_Mutation_p.P2159A|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2125A|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2189A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2229	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2229A(1)|p.P2189A(1)|p.P2229T(1)		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						TTTCGAAACGGGCGTGGATCA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	3	Substitution - Missense(3)		lung(3)	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.(6685-6687)CCG>GCG		CUB and Sushi multiple domains 3 isoform 1							89.0	90.0	90.0					8																	113349928		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113349928G>C	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.6685C>G	8.37:g.113349928G>C	ENSP00000297405:p.Pro2229Ala	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P1431A|CSMD3_uc003ynt.2_Missense_Mutation_p.P2189A|CSMD3_uc011lhx.1_Missense_Mutation_p.P2125A|CSMD3_uc003ynw.1_5'UTR	p.P2229A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			43	6844	-			2229			Extracellular (Potential).|Sushi 12.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6685C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440432	0.83993	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.64	5.64	0.86602	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.72028	0.3410	L	0.33293	1	0.80722	D	1	D;D;P	0.89917	1.0;0.99;0.83	D;D;P	0.91635	0.999;0.983;0.55	T	0.68066	-0.5507	10	0.36615	T	0.2	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	2125;2229;2189	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	2189;2229;1499;2125;2159	ENSP00000345799:P2189A;ENSP00000297405:P2229A;ENSP00000341558:P1499A;ENSP00000412263:P2125A;ENSP00000343124:P2159A	ENSP00000297405:P2229A	P	-	1	0	CSMD3	113419104	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.657000	0.98554	2.937000	0.99478	0.650000	0.86243	CCG		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		16	93	0	0	0	0.006122	0	16	93				
CSMD3	114788	broad.mit.edu	37	8	113702264	113702264	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:113702264C>A	ENST00000297405.5	-	14	2232	c.1988G>T	c.(1987-1989)aGt>aTt	p.S663I	CSMD3_ENST00000352409.3_Missense_Mutation_p.S663I|CSMD3_ENST00000455883.2_Missense_Mutation_p.S559I|CSMD3_ENST00000343508.3_Missense_Mutation_p.S623I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	663	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S623I(1)|p.S663I(1)		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						ATCACCACAACTTTCTTTCTC	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	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.(1987-1989)AGT>ATT		CUB and Sushi multiple domains 3 isoform 1							122.0	129.0	127.0					8																	113702264		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113702264C>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1988G>T	8.37:g.113702264C>A	ENSP00000297405:p.Ser663Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.S623I|CSMD3_uc011lhx.1_Missense_Mutation_p.S559I	p.S663I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			14	2147	-			663			Extracellular (Potential).|Sushi 3.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1988G>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128130	0.77549	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.09	5.09	0.68999	Complement control module (1);CUB (1);Sushi/SCR/CCP (1);	0.000000	0.85682	D	0.000000	T	0.47040	0.1424	L	0.56340	1.77	0.46458	D	0.999058	P;P;D	0.53312	0.881;0.83;0.959	B;B;D	0.66847	0.381;0.362;0.947	T	0.25641	-1.0126	10	0.40728	T	0.16	.	18.8569	0.92255	0.0:1.0:0.0:0.0	.	559;663;623	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	623;663;3;559;663	ENSP00000345799:S623I;ENSP00000297405:S663I;ENSP00000341558:S3I;ENSP00000412263:S559I;ENSP00000343124:S663I	ENSP00000297405:S663I	S	-	2	0	CSMD3	113771440	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.525000	0.85131	0.585000	0.79938	AGT		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		40	200	1	0	9.85913e-13	0.009718	1.36122e-12	40	200				
CSMD3	114788	broad.mit.edu	37	8	113702266	113702266	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:113702266T>A	ENST00000297405.5	-	14	2230	c.1986A>T	c.(1984-1986)gaA>gaT	p.E662D	CSMD3_ENST00000352409.3_Missense_Mutation_p.E662D|CSMD3_ENST00000455883.2_Missense_Mutation_p.E558D|CSMD3_ENST00000343508.3_Missense_Mutation_p.E622D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	662	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E622D(1)|p.E662D(1)		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						CACCACAACTTTCTTTCTCAA	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	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.(1984-1986)GAA>GAT		CUB and Sushi multiple domains 3 isoform 1							117.0	125.0	123.0					8																	113702266		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113702266T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1986A>T	8.37:g.113702266T>A	ENSP00000297405:p.Glu662Asp	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.E622D|CSMD3_uc011lhx.1_Missense_Mutation_p.E558D	p.E662D	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			14	2145	-			662			Extracellular (Potential).|Sushi 3.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.1986A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.239826	0.58995	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.25250	2.11;2.11;2.16;1.81;2.12	5.09	3.92	0.45320	Complement control module (1);CUB (1);Sushi/SCR/CCP (1);	0.000000	0.64402	D	0.000001	T	0.17577	0.0422	N	0.12182	0.205	0.28806	N	0.898508	P;P;B	0.42203	0.68;0.773;0.296	P;B;B	0.47044	0.535;0.41;0.285	T	0.06320	-1.0833	10	0.12430	T	0.62	.	11.3809	0.49757	0.0:0.0752:0.0:0.9248	.	558;662;622	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	622;662;2;558;662	ENSP00000345799:E622D;ENSP00000297405:E662D;ENSP00000341558:E2D;ENSP00000412263:E558D;ENSP00000343124:E662D	ENSP00000297405:E662D	E	-	3	2	CSMD3	113771442	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.338000	0.52128	2.042000	0.60477	0.477000	0.44152	GAA		0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		38	195	0	0	0	0.00623	0	38	195				
FER1L6	654463	broad.mit.edu	37	8	125107185	125107185	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:125107185C>A	ENST00000522917.1	+	35	4807	c.4601C>A	c.(4600-4602)tCt>tAt	p.S1534Y	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.S1534Y	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1534						integral component of membrane (GO:0016021)		p.S1534Y(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTTTTACACTCTTGGGAGGAT	0.498																																							uc003yqw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(4600-4602)TCT>TAT		fer-1-like 6							94.0	87.0	89.0					8																	125107185		1903	4132	6035	SO:0001583	missense	654463					integral to membrane		g.chr8:125107185C>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4601C>A	8.37:g.125107185C>A	ENSP00000428280:p.Ser1534Tyr					uc003yqy.1_Intron	p.S1534Y	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		35	4807	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1534			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.4601C>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836859	0.32421	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.60920	0.15;0.15	5.52	5.52	0.82312	.	0.143817	0.46145	U	0.000315	T	0.74959	0.3785	M	0.69823	2.125	0.29056	N	0.884184	D	0.76494	0.999	D	0.67103	0.949	T	0.69243	-0.5196	10	0.36615	T	0.2	-19.2211	19.8	0.96502	0.0:1.0:0.0:0.0	.	1534	Q2WGJ9	FR1L6_HUMAN	Y	1534	ENSP00000428280:S1534Y;ENSP00000381982:S1534Y	ENSP00000381982:S1534Y	S	+	2	0	FER1L6	125176366	0.566000	0.26618	0.678000	0.29963	0.103000	0.19146	1.945000	0.40273	2.754000	0.94517	0.551000	0.68910	TCT		0.498	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		35	68	1	0	2.87052e-16	0.005524	4.15135e-16	35	68				
PARP10	84875	broad.mit.edu	37	8	145049532	145049532	+	IGR	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:145049532C>A	ENST00000313028.7	-	0	3497				PLEC_ENST00000356346.3_5'Flank|PLEC_ENST00000436759.2_Silent_p.S2S|PLEC_ENST00000527096.1_Silent_p.S2S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10						negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.S2S(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-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;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTCCTCACCCGACATGGCCT	0.607											OREG0019050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003zaj.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(4-6)TCG>TCT		plectin isoform 1c							35.0	43.0	40.0					8																	145049532		2163	4260	6423	SO:0001628	intergenic_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.chr8:145049532C>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7			8.37:g.145049532C>A			OREG0019050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1691	PLEC_uc003zah.2_5'Flank	p.S2S	NM_000445	NP_000436	Q15149	PLEC_HUMAN			2	55	-			Error:Variant_position_missing_in_Q15149_after_alignment					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Silent	SNP	ENST00000313028.7	37	c.6G>T	CCDS34960.1																																																																																				0.607	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		5	32	1	0	5.9392e-07	0.001168	7.29628e-07	5	32				
JAK2	3717	broad.mit.edu	37	9	5126726	5126726	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:5126726C>T	ENST00000381652.3	+	25	3828	c.3334C>T	c.(3334-3336)Caa>Taa	p.Q1112*	JAK2_ENST00000544510.1_Nonsense_Mutation_p.Q963*|JAK2_ENST00000487310.1_3'UTR|JAK2_ENST00000539801.1_Nonsense_Mutation_p.Q1112*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	1112	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.Q1112*(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TAATGTAAATCAACGCCCCTC	0.368		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																														uc010mhm.2		1		Dom	yes		9	9p24	3717	T|Mis|O	Janus kinase 2			L	ETV6|PCM1|BCR		ALL|AML|MPD| CML	PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	1	Substitution - Nonsense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641						c.(3334-3336)CAA>TAA		Janus kinase 2							94.0	87.0	89.0					9																	5126726		2203	4300	6503	SO:0001587	stop_gained	3717	Polycythemia_Vera_Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5126726C>T		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.3334C>T	9.37:g.5126726C>T	ENSP00000371067:p.Gln1112*					JAK2_uc003ziw.2_Nonsense_Mutation_p.Q1112*	p.Q1112*	NM_004972	NP_004963	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	24	3447	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	1112			Protein kinase 2.		O14636|O75297	Nonsense_Mutation	SNP	ENST00000381652.3	37	c.3334C>T	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	C	41	8.546737	0.98857	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	.	.	.	5.27	4.36	0.52297	.	0.298226	0.31612	N	0.007353	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-1.5022	14.7915	0.69846	0.0:0.9267:0.0:0.0733	.	.	.	.	X	1112;1112;963	.	ENSP00000371067:Q1112X	Q	+	1	0	JAK2	5116726	0.137000	0.22531	0.713000	0.30519	0.696000	0.40369	1.392000	0.34486	2.622000	0.88805	0.655000	0.94253	CAA		0.368	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			10	49	0	0	0	0.008291	0	10	49				
ERMP1	79956	broad.mit.edu	37	9	5805687	5805687	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:5805687C>T	ENST00000339450.5	-	9	1736	c.1647G>A	c.(1645-1647)tcG>tcA	p.S549S	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Silent_p.S127S|ERMP1_ENST00000381506.3_Silent_p.S325S	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	549						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.S549S(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		TAATAAACGCCGAGCAAAGTC	0.428																																							uc003zjm.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1645-1647)TCG>TCA		aminopeptidase Fxna							100.0	88.0	92.0					9																	5805687		2203	4300	6503	SO:0001819	synonymous_variant	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5805687C>T	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.1647G>A	9.37:g.5805687C>T						ERMP1_uc011lme.1_RNA|ERMP1_uc010mhs.1_Silent_p.S163S	p.S549S	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	9	1701	-		Acute lymphoblastic leukemia(23;0.158)	549			Helical; (Potential).		B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	c.1647G>A	CCDS34983.1																																																																																				0.428	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		5	44	0	0	0	0.000602	0	5	44				
DENND4C	55667	broad.mit.edu	37	9	19324446	19324446	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:19324446T>C	ENST00000380432.2	+	9	1219	c.1186T>C	c.(1186-1188)Tgc>Cgc	p.C396R	DENND4C_ENST00000434457.2_Missense_Mutation_p.C632R|DENND4C_ENST00000602925.1_Missense_Mutation_p.C632R			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	396	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.C396R(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CATTGAAGAATGCAGTTTTGT	0.294																																							uc003znq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1186-1188)TGC>CGC		DENN/MADD domain containing 4C							85.0	95.0	91.0					9																	19324446		2201	4292	6493	SO:0001583	missense	55667					integral to membrane		g.chr9:19324446T>C	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.1186T>C	9.37:g.19324446T>C	ENSP00000369797:p.Cys396Arg					DENND4C_uc011lnc.1_Intron	p.C396R	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			9	1219	+			396			dDENN.		A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Missense_Mutation	SNP	ENST00000380432.2	37	c.1186T>C		.	.	.	.	.	.	.	.	.	.	T	18.23	3.578933	0.65878	.	.	ENSG00000137145	ENST00000380437	.	.	.	4.66	4.66	0.58398	dDENN (3);	0.102199	0.64402	D	0.000001	T	0.34308	0.0893	N	0.02658	-0.545	0.80722	D	1	D	0.52996	0.957	P	0.59424	0.857	T	0.25398	-1.0133	9	0.05721	T	0.95	-12.0504	14.5343	0.67950	0.0:0.0:0.0:1.0	.	396	Q5VZ89	DEN4C_HUMAN	R	396	.	ENSP00000369802:C396R	C	+	1	0	DENND4C	19314446	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.825000	0.86693	2.082000	0.62665	0.482000	0.46254	TGC		0.294	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		5	166	0	0	0	0.000602	0	5	166				
IFNA21	3452	broad.mit.edu	37	9	21166475	21166475	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:21166475C>A	ENST00000380225.1	-	1	184	c.137G>T	c.(136-138)aGa>aTa	p.R46I		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	46					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.R46I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGAGAGATTCTTCCCATTTG	0.522																																							uc003zom.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(136-138)AGA>ATA		interferon, alpha 21 precursor							96.0	99.0	98.0					9																	21166475		2203	4298	6501	SO:0001583	missense	3452				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	g.chr9:21166475C>A		CCDS6497.1	9p22	2010-12-10			ENSG00000137080	ENSG00000137080		"""Interferons"""	5424	protein-coding gene	gene with protein product	"""leukocyte interferon protein"""	147584				1385305	Standard	NM_002175		Approved	IFN-alphaI	uc003zom.2	P01568	OTTHUMG00000019653	ENST00000380225.1:c.137G>T	9.37:g.21166475C>A	ENSP00000369574:p.Arg46Ile						p.R46I	NM_002175	NP_002166	P01568	IFN21_HUMAN		GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	185	-			46					Q14608|Q5VWD1|Q7M4Q4	Missense_Mutation	SNP	ENST00000380225.1	37	c.137G>T	CCDS6497.1	.	.	.	.	.	.	.	.	.	.	N	19.97	3.925836	0.73213	.	.	ENSG00000137080	ENST00000380225	T	0.06768	3.26	4.02	3.07	0.35406	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.380726	0.29551	N	0.011833	T	0.31702	0.0805	M	0.93978	3.48	0.27586	N	0.949435	D	0.56968	0.978	D	0.63597	0.916	T	0.14868	-1.0457	10	0.87932	D	0	.	8.7927	0.34861	0.0:0.7454:0.2546:0.0	.	46	P01568	IFN21_HUMAN	I	46	ENSP00000369574:R46I	ENSP00000369574:R46I	R	-	2	0	IFNA21	21156475	0.000000	0.05858	0.155000	0.22561	0.665000	0.39181	-0.184000	0.09698	2.080000	0.62538	0.644000	0.83932	AGA		0.522	IFNA21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051882.1	NM_002175		33	151	1	0	1.32136e-16	0.00874	1.92312e-16	33	151				
GCNT1	2650	broad.mit.edu	37	9	79117887	79117887	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:79117887T>C	ENST00000376730.4	+	4	1073	c.590T>C	c.(589-591)cTc>cCc	p.L197P	GCNT1_ENST00000536223.1_Missense_Mutation_p.L197P|GCNT1_ENST00000442371.1_Missense_Mutation_p.L197P|GCNT1_ENST00000444201.2_Missense_Mutation_p.L197P	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	197	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.L197P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						CAGGCTGACCTCAACTGCATG	0.453																																							uc010mpf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(589-591)CTC>CCC		beta-1,3-galactosyl-O-glycosyl-glycoprotein							80.0	79.0	79.0					9																	79117887		2203	4300	6503	SO:0001583	missense	2650				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	g.chr9:79117887T>C	L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.590T>C	9.37:g.79117887T>C	ENSP00000365920:p.Leu197Pro					GCNT1_uc010mpg.2_Missense_Mutation_p.L197P|GCNT1_uc010mph.2_Missense_Mutation_p.L197P|GCNT1_uc004akf.3_Missense_Mutation_p.L197P|GCNT1_uc010mpi.2_Missense_Mutation_p.L197P|GCNT1_uc004akh.3_Missense_Mutation_p.L197P	p.L197P	NM_001490	NP_001481	Q02742	GCNT1_HUMAN			3	931	+			197			Lumenal (Potential).|Catalytic (By similarity).		Q6DJZ4	Missense_Mutation	SNP	ENST00000376730.4	37	c.590T>C	CCDS6653.1	.	.	.	.	.	.	.	.	.	.	t	21.8	4.195457	0.78902	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	6.07	6.07	0.98685	.	0.192854	0.45361	D	0.000369	T	0.45836	0.1362	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51671	-0.8676	9	.	.	.	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	197	Q02742	GCNT1_HUMAN	P	197	ENSP00000440883:L197P;ENSP00000415454:L197P;ENSP00000390703:L197P;ENSP00000365920:L197P	.	L	+	2	0	GCNT1	78307707	0.996000	0.38824	1.000000	0.80357	0.990000	0.78478	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	CTC		0.453	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052725.1	NM_001097634		3	91	0	0	0	0.004672	0	3	91				
SYK	6850	broad.mit.edu	37	9	93629456	93629456	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:93629456C>G	ENST00000375754.4	+	7	1038	c.890C>G	c.(889-891)tCc>tGc	p.S297C	SYK_ENST00000375751.4_Intron|SYK_ENST00000375746.1_Missense_Mutation_p.S297C|SYK_ENST00000375747.1_Intron	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	297	Interdomain B.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)	p.S297C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AAATCATACTCCTTCCCAAAG	0.493			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																		uc004aqz.2		NA		Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	ETV6|ITK		MDS|peripheral T-cell lymphoma		1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(889-891)TCC>TGC		spleen tyrosine kinase isoform 1							164.0	154.0	157.0					9																	93629456		2203	4300	6503	SO:0001583	missense	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93629456C>G	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.890C>G	9.37:g.93629456C>G	ENSP00000364907:p.Ser297Cys					SYK_uc004aqy.2_Missense_Mutation_p.S297C|SYK_uc004ara.2_Intron|SYK_uc004arb.2_Intron|SYK_uc004arc.2_Missense_Mutation_p.S297C|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	p.S297C	NM_003177	NP_003168	P43405	KSYK_HUMAN			7	1095	+			297	S->A: Abolishes YWHAG/1433-gamma binding.		Linker.			Missense_Mutation	SNP	ENST00000375754.4	37	c.890C>G	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963549	0.53507	.	.	ENSG00000165025	ENST00000375754;ENST00000375746	T;T	0.73789	-0.78;-0.78	4.24	3.32	0.38043	.	0.972482	0.08439	N	0.945791	T	0.67951	0.2948	N	0.08118	0	0.44469	D	0.9974	P;D	0.59767	0.621;0.986	B;P	0.52856	0.299;0.711	T	0.64939	-0.6289	10	0.40728	T	0.16	.	14.3203	0.66482	0.1501:0.8499:0.0:0.0	.	297;297	P43405;C3W981	KSYK_HUMAN;.	C	297	ENSP00000364907:S297C;ENSP00000364898:S297C	ENSP00000364898:S297C	S	+	2	0	SYK	92669277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.802000	0.55553	1.354000	0.45846	0.591000	0.81541	TCC		0.493	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			18	114	0	0	0	0.007413	0	18	114				
PHF2	5253	broad.mit.edu	37	9	96427980	96427980	+	Silent	SNP	C	C	G			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:96427980C>G	ENST00000359246.4	+	15	2317	c.1950C>G	c.(1948-1950)ctC>ctG	p.L650L	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	650					liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.L650L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCAAGGCTCTCAGGCCCCCGA	0.637																																							uc004aub.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1948-1950)CTC>CTG		PHD finger protein 2							55.0	60.0	58.0					9																	96427980		2203	4300	6503	SO:0001819	synonymous_variant	5253				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:96427980C>G	AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.1950C>G	9.37:g.96427980C>G						PHF2_uc011lug.1_Silent_p.L533L|PHF2_uc004auc.2_Silent_p.L69L	p.L650L	NM_005392	NP_005383	O75151	PHF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)	15	2097	+		Myeloproliferative disorder(762;0.0255)	650					Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	c.1950C>G	CCDS35069.1																																																																																				0.637	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	NM_005392		10	53	0	0	0	0.008291	0	10	53				
TEX10	54881	broad.mit.edu	37	9	103109394	103109394	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:103109394C>A	ENST00000374902.4	-	3	651	c.475G>T	c.(475-477)Gac>Tac	p.D159Y	TEX10_ENST00000535814.1_Missense_Mutation_p.D162Y|TEX10_ENST00000537512.1_Missense_Mutation_p.D94Y	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	159						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)		p.D159Y(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTTAAAGAGTCCTCCTGAATT	0.408																																							uc004bas.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(475-477)GAC>TAC		testis expressed 10 isoform 1							87.0	93.0	91.0					9																	103109394		2203	4300	6503	SO:0001583	missense	54881					integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding	g.chr9:103109394C>A	AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.475G>T	9.37:g.103109394C>A	ENSP00000364037:p.Asp159Tyr					TEX10_uc011lvf.1_Intron|TEX10_uc011lvg.1_Missense_Mutation_p.D162Y|TEX10_uc011lvh.1_Missense_Mutation_p.D94Y|TEX10_uc004bat.2_Missense_Mutation_p.D159Y	p.D159Y	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.157)	3	690	-		Acute lymphoblastic leukemia(62;0.0527)	159					B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	ENST00000374902.4	37	c.475G>T	CCDS6748.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768049	0.69878	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000537512	T;T;T	0.64260	-0.09;-0.09;-0.09	5.32	5.32	0.75619	Armadillo-like helical (1);Armadillo-type fold (1);	0.044205	0.85682	D	0.000000	T	0.81692	0.4876	M	0.83483	2.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	D	0.84084	0.0386	10	0.66056	D	0.02	-7.5499	18.9915	0.92794	0.0:1.0:0.0:0.0	.	94;162;159	B7Z9D5;B4DYV2;Q9NXF1	.;.;TEX10_HUMAN	Y	162;159;94	ENSP00000444555:D162Y;ENSP00000364037:D159Y;ENSP00000438120:D94Y	ENSP00000364037:D159Y	D	-	1	0	TEX10	102149215	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.484000	0.83849	0.591000	0.81541	GAC		0.408	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746		16	91	1	0	1.3612e-06	0.003163	1.65005e-06	16	91				
IKBKAP	8518	broad.mit.edu	37	9	111670594	111670594	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:111670594T>A	ENST00000374647.5	-	13	1758	c.1451A>T	c.(1450-1452)aAg>aTg	p.K484M	IKBKAP_ENST00000537196.1_Missense_Mutation_p.K135M	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	484					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.K484M(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTTGTATCTCTTTTCCAAATG	0.433																																							uc004bdm.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						c.(1450-1452)AAG>ATG		inhibitor of kappa light polypeptide gene							70.0	67.0	68.0					9																	111670594		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111670594T>A	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.1451A>T	9.37:g.111670594T>A	ENSP00000363779:p.Lys484Met					IKBKAP_uc004bdl.2_Missense_Mutation_p.K135M|IKBKAP_uc011lwc.1_Missense_Mutation_p.K370M|IKBKAP_uc010mtq.2_Missense_Mutation_p.K135M	p.K484M	NM_003640	NP_003631	O95163	ELP1_HUMAN			13	1971	-			484					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.1451A>T	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.067599	0.76301	.	.	ENSG00000070061	ENST00000374647;ENST00000537196	T;T	0.27402	1.67;1.67	5.56	5.56	0.83823	.	0.212982	0.50627	D	0.000113	T	0.55369	0.1916	M	0.78637	2.42	0.41569	D	0.988675	D	0.89917	1.0	D	0.77004	0.989	T	0.57004	-0.7885	10	0.39692	T	0.17	-20.9446	13.6663	0.62398	0.0:0.0:0.0:1.0	.	484	O95163	ELP1_HUMAN	M	484;135	ENSP00000363779:K484M;ENSP00000439367:K135M	ENSP00000363779:K484M	K	-	2	0	IKBKAP	110710415	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.988000	0.56951	2.106000	0.64143	0.533000	0.62120	AAG		0.433	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			10	27	0	0	0	0.000978	0	10	27				
PTPN3	5774	broad.mit.edu	37	9	112168882	112168882	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:112168882G>C	ENST00000374541.2	-	18	1756	c.1652C>G	c.(1651-1653)cCt>cGt	p.P551R	PTPN3_ENST00000446349.1_Missense_Mutation_p.P375R|PTPN3_ENST00000394827.3_Missense_Mutation_p.P19R|PTPN3_ENST00000412145.1_Missense_Mutation_p.P420R|PTPN3_ENST00000262539.3_Missense_Mutation_p.P397R	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	551	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)	p.P551R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTTCAGCTTAGGAATGCAGGT	0.537																																							uc004bed.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1651-1653)CCT>CGT		protein tyrosine phosphatase, non-receptor type							174.0	156.0	162.0					9																	112168882		2203	4300	6503	SO:0001583	missense	5774				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr9:112168882G>C		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.1652C>G	9.37:g.112168882G>C	ENSP00000363667:p.Pro551Arg					PTPN3_uc004beb.2_Missense_Mutation_p.P420R|PTPN3_uc004bec.2_Missense_Mutation_p.P375R|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.P506R|PTPN3_uc011lwh.1_Missense_Mutation_p.P397R|PTPN3_uc011lwd.1_Missense_Mutation_p.P19R|PTPN3_uc011lwe.1_Missense_Mutation_p.P264R|PTPN3_uc011lwf.1_Missense_Mutation_p.P219R	p.P551R	NM_002829	NP_002820	P26045	PTN3_HUMAN			18	1764	-			551			PDZ.		A0AUW9|E7EN99|E9PGU7	Missense_Mutation	SNP	ENST00000374541.2	37	c.1652C>G	CCDS6776.1	.	.	.	.	.	.	.	.	.	.	G	33	5.276351	0.95459	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.74	5.74	0.90152	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.55433	0.1920	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.54268	-0.8319	10	0.72032	D	0.01	.	19.9077	0.97014	0.0:0.0:1.0:0.0	.	397;506;551	B7Z3H5;B7Z9V1;P26045	.;.;PTN3_HUMAN	R	551;420;375;551;19;397	ENSP00000416654:P420R;ENSP00000395384:P375R;ENSP00000363667:P551R;ENSP00000378304:P19R;ENSP00000262539:P397R	ENSP00000262539:P397R	P	-	2	0	PTPN3	111208703	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.712000	0.92718	0.561000	0.74099	CCT		0.537	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4			24	108	0	0	0	0.00333	0	24	108				
DFNB31	25861	broad.mit.edu	37	9	117241034	117241034	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:117241034C>T	ENST00000362057.3	-	2	804	c.636G>A	c.(634-636)aaG>aaA	p.K212K	DFNB31_ENST00000265134.6_5'UTR|DFNB31_ENST00000374057.3_Silent_p.K212K	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	212	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.K212K(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCACCAGCTTCTTGGAGCCCT	0.627																																							uc004biz.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(634-636)AAG>AAA		CASK-interacting protein CIP98 isoform 1							32.0	28.0	30.0					9																	117241034		2203	4300	6503	SO:0001819	synonymous_variant	25861				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium		g.chr9:117241034C>T	AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.636G>A	9.37:g.117241034C>T						DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Silent_p.K212K|DFNB31_uc004bjb.2_Silent_p.K212K	p.K212K	NM_015404	NP_056219	Q9P202	WHRN_HUMAN			2	1285	-			212			PDZ 1.		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	ENST00000362057.3	37	c.636G>A	CCDS6806.1																																																																																				0.627	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053776.2	NM_015404		10	16	0	0	0	0.000978	0	10	16				
BRINP1	1620	broad.mit.edu	37	9	122000939	122000939	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:122000939G>T	ENST00000265922.3	-	5	1140	c.679C>A	c.(679-681)Ctt>Att	p.L227I	BRINP1_ENST00000373964.2_Missense_Mutation_p.L227I	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	227	MACPF.				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)		p.L227I(1)									CTACCTTGAAGGTGCAGTTTG	0.537																																							uc004bkc.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(679-681)CTT>ATT		deleted in bladder cancer 1 precursor							104.0	70.0	81.0					9																	122000939		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122000939G>T	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.679C>A	9.37:g.122000939G>T	ENSP00000265922:p.Leu227Ile					DBC1_uc004bkd.2_Missense_Mutation_p.L227I	p.L227I	NM_014618	NP_055433	O60477	DBC1_HUMAN			5	1135	-			227			MACPF.		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.679C>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.503736	0.85176	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	T;T	0.60797	1.79;0.16	5.91	5.91	0.95273	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.67059	0.2853	L	0.41492	1.28	0.58432	D	0.999999	D;D	0.67145	0.996;0.993	D;D	0.72625	0.978;0.952	T	0.68458	-0.5403	10	0.87932	D	0	-12.2852	12.5712	0.56339	0.0752:0.0:0.9248:0.0	.	227;227	O60477-2;O60477	.;DBC1_HUMAN	I	227	ENSP00000265922:L227I;ENSP00000363075:L227I	ENSP00000265922:L227I	L	-	1	0	DBC1	121040760	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.591000	0.67536	2.794000	0.96219	0.655000	0.94253	CTT		0.537	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		4	29	1	0	0.00024832	0.009096	0.000281594	4	29				
ZNF79	7633	broad.mit.edu	37	9	130207042	130207042	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:130207042C>T	ENST00000342483.5	+	5	1469	c.1063C>T	c.(1063-1065)Cac>Tac	p.H355Y	ZNF79_ENST00000543471.1_Missense_Mutation_p.H331Y|RPL12_ENST00000497322.1_5'Flank	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H355Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCAGAGGATTCACACCGGGGA	0.572																																							uc004bqw.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1063-1065)CAC>TAC		zinc finger protein 79							85.0	84.0	85.0					9																	130207042		2203	4300	6503	SO:0001583	missense	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130207042C>T	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1063C>T	9.37:g.130207042C>T	ENSP00000362446:p.His355Tyr					ZNF79_uc011maf.1_Missense_Mutation_p.H331Y|ZNF79_uc011mag.1_Missense_Mutation_p.H331Y	p.H355Y	NM_007135	NP_009066	Q15937	ZNF79_HUMAN			5	1477	+			355			C2H2-type 6.		Q5VVW1|Q96NV1	Missense_Mutation	SNP	ENST00000342483.5	37	c.1063C>T	CCDS6871.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918633	0.73098	.	.	ENSG00000196152	ENST00000342483;ENST00000543471	T;T	0.67523	-0.27;-0.27	3.29	3.29	0.37713	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85177	0.5637	H	0.94698	3.57	0.49299	D	0.999775	D	0.76494	0.999	D	0.87578	0.998	D	0.88867	0.3330	9	0.87932	D	0	.	12.4393	0.55615	0.0:1.0:0.0:0.0	.	355	Q15937	ZNF79_HUMAN	Y	355;331	ENSP00000362446:H355Y;ENSP00000438418:H331Y	ENSP00000362446:H355Y	H	+	1	0	ZNF79	129246863	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	4.938000	0.63519	1.853000	0.53794	0.655000	0.94253	CAC		0.572	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		19	87	0	0	0	0.006122	0	19	87				
GPSM1	26086	broad.mit.edu	37	9	139228961	139228961	+	Silent	SNP	C	C	T	rs138071426		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:139228961C>T	ENST00000440944.1	+	2	346	c.126C>T	c.(124-126)ggC>ggT	p.G42G	GPSM1_ENST00000392945.3_Silent_p.G42G	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	42	Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)	p.G19G(1)		biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GCAAGGCGGGCGACTTCAAGA	0.632																																							uc004chd.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(124-126)GGC>GGT		G-protein signaling modulator 1 (AGS3-like, C.			,	2,4402	4.2+/-10.8	0,2,2200	62.0	58.0	59.0		126,126	-9.3	0.0	9	dbSNP_134	59	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	GPSM1	NM_001145638.1,NM_015597.4	,	0,2,6499	TT,TC,CC		0.0,0.0454,0.0154	,	42/676,42/458	139228961	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	26086				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity	g.chr9:139228961C>T	AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.126C>T	9.37:g.139228961C>T						GPSM1_uc004chc.2_Silent_p.G42G	p.G42G	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)	2	346	+		Myeloproliferative disorder(178;0.0821)	42			TPR 1.|Mediates association with membranes (By similarity).		A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Silent	SNP	ENST00000440944.1	37	c.126C>T	CCDS48055.1																																																																																				0.632	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015597		4	12	0	0	0	0.009096	0	4	12				
SLC34A3	142680	broad.mit.edu	37	9	140128971	140128971	+	Silent	SNP	C	C	T	rs201720181		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr9:140128971C>T	ENST00000538474.1	+	11	1421	c.1197C>T	c.(1195-1197)gtC>gtT	p.V399V	SLC34A3_ENST00000361134.2_Silent_p.V399V	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	399					cellular phosphate ion homeostasis (GO:0030643)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)	p.V399V(1)		kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGGCGGCCGTCGTGCCCCTCA	0.721													C|||	1	0.000199681	0.0	0.0	5008	,	,		12082	0.001		0.0	False		,,,				2504	0.0						uc004cmf.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1195-1197)GTC>GTT		solute carrier family 34 (sodium phosphate),							14.0	19.0	17.0					9																	140128971		2176	4273	6449	SO:0001819	synonymous_variant	142680				cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr9:140128971C>T	AB055000	CCDS7038.1	9q34.3	2013-07-17	2013-07-17		ENSG00000198569	ENSG00000198569		"""Solute carriers"""	20305	protein-coding gene	gene with protein product		609826	"""solute carrier family 34 (sodium phosphate), member 3"""			11880379, 16358215, 16358214	Standard	NM_080877		Approved	NPTIIc, FLJ38680	uc004cmf.1	Q8N130	OTTHUMG00000131780	ENST00000538474.1:c.1197C>T	9.37:g.140128971C>T						SLC34A3_uc011met.1_Silent_p.V399V	p.V399V	NM_080877	NP_543153	Q8N130	NPT2C_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	11	1383	+	all_cancers(76;0.0926)		399			Extracellular (Potential).		A2BFA1	Silent	SNP	ENST00000538474.1	37	c.1197C>T	CCDS7038.1																																																																																				0.721	SLC34A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254712.1	NM_080877		23	37	0	0	0	0.002299	0	23	37				
AKAP17A	8227	broad.mit.edu	37	X	1712956	1712956	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:1712956G>A	ENST00000313871.3	+	2	797	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	AKAP17A_ENST00000381261.3_Missense_Mutation_p.G201S	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	201	RRM.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)	p.G201S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GGAGATGACGGGCCGCAACTT	0.597																																							uc004cqa.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(601-603)GGC>AGC		DNA segment on chromosome X and Y (unique) 155							135.0	123.0	127.0					X																	1712956		2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1712956G>A	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.601G>A	X.37:g.1712956G>A	ENSP00000324827:p.Gly201Ser					SFRS17A_uc010ncx.1_Missense_Mutation_p.G201S|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	p.G201S	NM_005088	NP_005079	Q02040	AK17A_HUMAN			2	797	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	201			RRM.		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.601G>A	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	g	6.418	0.445238	0.12164	.	.	ENSG00000197976	ENST00000313871;ENST00000381261	T;T	0.48201	0.82;0.82	2.04	2.04	0.26737	Nucleotide-binding, alpha-beta plait (1);	0.072504	0.53938	U	0.000047	T	0.60945	0.2308	.	.	.	0.33526	D	0.592995	B;D	0.61080	0.22;0.989	B;D	0.64237	0.042;0.923	T	0.71286	-0.4638	9	0.42905	T	0.14	.	12.5281	0.56098	0.0:0.0:1.0:0.0	.	201;201	Q02040-3;Q02040	.;AK17A_HUMAN	S	201	ENSP00000324827:G201S;ENSP00000370660:G201S	ENSP00000324827:G201S	G	+	1	0	AKAP17A	1672956	1.000000	0.71417	0.005000	0.12908	0.334000	0.28698	7.035000	0.76517	0.822000	0.34565	0.100000	0.15512	GGC		0.597	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		24	153	0	0	0	0.005443	0	24	153				
FAM9A	171482	broad.mit.edu	37	X	8764317	8764317	+	Silent	SNP	T	T	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:8764317T>C	ENST00000543214.1	-	6	615	c.480A>G	c.(478-480)caA>caG	p.Q160Q	FAM9A_ENST00000381003.3_Silent_p.Q160Q	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	160						nucleus (GO:0005634)		p.Q160Q(1)		endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				ACCTTTTTAGTTGTTTTTTTT	0.289																																							uc004csg.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(478-480)CAA>CAG		family with sequence similarity 9, member A							125.0	98.0	107.0					X																	8764317		2201	4296	6497	SO:0001819	synonymous_variant	171482					nucleolus		g.chrX:8764317T>C		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.480A>G	X.37:g.8764317T>C							p.Q160Q	NM_174951	NP_777611	Q8IZU1	FAM9A_HUMAN			6	591	-		Hepatocellular(5;0.219)	160					B7ZLH5|Q2M2D1	Silent	SNP	ENST00000543214.1	37	c.480A>G	CCDS14131.1																																																																																				0.289	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951		4	27	0	0	0	0.009096	0	4	27				
SHROOM2	357	broad.mit.edu	37	X	9862757	9862757	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:9862757C>A	ENST00000380913.3	+	4	899	c.809C>A	c.(808-810)cCc>cAc	p.P270H		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	270					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.P270H(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGTTTCCCGCCCAGGGTCCCC	0.672																																							uc004csu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(808-810)CCC>CAC		apical protein of Xenopus-like							22.0	19.0	20.0					X																	9862757		2197	4296	6493	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9862757C>A	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.809C>A	X.37:g.9862757C>A	ENSP00000370299:p.Pro270His						p.P270H	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			4	899	+		Hepatocellular(5;0.000888)	270					B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.809C>A	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651841	0.47362	.	.	ENSG00000146950	ENST00000380913	T	0.21734	1.99	4.24	4.24	0.50183	.	0.719769	0.13612	N	0.375024	T	0.20333	0.0489	L	0.53249	1.67	0.51767	D	0.999937	P	0.40431	0.717	B	0.29524	0.103	T	0.14896	-1.0456	10	0.87932	D	0	-8.4442	14.9872	0.71356	0.0:1.0:0.0:0.0	.	270	Q13796	SHRM2_HUMAN	H	270	ENSP00000370299:P270H	ENSP00000370299:P270H	P	+	2	0	SHROOM2	9822757	0.021000	0.18746	0.003000	0.11579	0.017000	0.09413	1.991000	0.40727	1.709000	0.51313	0.600000	0.82982	CCC		0.672	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		6	30	1	0	0.00116845	0.001168	0.00128053	6	30				
TLR8	51311	broad.mit.edu	37	X	12940138	12940138	+	Silent	SNP	G	G	A	rs148097000		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:12940138G>A	ENST00000218032.6	+	2	3066	c.2979G>A	c.(2977-2979)cgG>cgA	p.R993R	TLR8_ENST00000311912.5_Silent_p.R1011R	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	993	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				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)	p.R1011R(1)		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)	TGAGGCTACGGCAGCGGATCT	0.463																																							uc004cve.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(2)|large_intestine(1)	7						c.(2977-2979)CGG>CGA		toll-like receptor 8 precursor							106.0	101.0	103.0					X																	12940138		2203	4300	6503	SO:0001819	synonymous_variant	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:12940138G>A	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.2979G>A	X.37:g.12940138G>A						TLR8_uc004cvd.2_Silent_p.R1011R	p.R993R	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	3047	+			993			Cytoplasmic (Potential).|TIR.		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	c.2979G>A	CCDS14152.1																																																																																				0.463	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		4	153	0	0	0	0.009096	0	4	153				
SYAP1	94056	broad.mit.edu	37	X	16778405	16778405	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:16778405G>T	ENST00000380155.3	+	9	1075	c.982G>T	c.(982-984)Gaa>Taa	p.E328*		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	328						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.E328*(1)		endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					TCAAGAATATGAAGTGGTGAC	0.348																																							uc004cxp.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(982-984)GAA>TAA		SYAP1 protein							94.0	93.0	93.0					X																	16778405		2203	4300	6503	SO:0001587	stop_gained	94056							g.chrX:16778405G>T	AF338728	CCDS14177.1	Xp22.31	2010-06-25	2010-06-25		ENSG00000169895	ENSG00000169895			16273	protein-coding gene	gene with protein product	"""SAP47 homolog (Drosophila)"""					11483580	Standard	NM_032796		Approved	FLJ14495, PRO3113	uc004cxp.3	Q96A49	OTTHUMG00000021192	ENST00000380155.3:c.982G>T	X.37:g.16778405G>T	ENSP00000369500:p.Glu328*					SYAP1_uc004cxo.2_Nonstop_Mutation_p.*327L|SYAP1_uc011miv.1_Nonsense_Mutation_p.E294*	p.E328*	NM_032796	NP_116185	Q96A49	SYAP1_HUMAN			9	1075	+	Hepatocellular(33;0.0997)		328					Q68CP1|Q96C60|Q96JQ6|Q96T20	Nonsense_Mutation	SNP	ENST00000380155.3	37	c.982G>T	CCDS14177.1	.	.	.	.	.	.	.	.	.	.	G	37	6.178343	0.97352	.	.	ENSG00000169895	ENST00000380155	.	.	.	5.69	3.89	0.44902	.	0.047210	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-27.8297	14.25	0.66013	0.0:0.2741:0.7258:0.0	.	.	.	.	X	328	.	ENSP00000369500:E328X	E	+	1	0	SYAP1	16688326	1.000000	0.71417	0.986000	0.45419	0.976000	0.68499	9.209000	0.95087	0.648000	0.30732	0.596000	0.82720	GAA		0.348	SYAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055904.1	NM_032796		31	190	1	0	8.58068e-18	0.007291	1.26089e-17	31	190				
CNKSR2	22866	broad.mit.edu	37	X	21609204	21609204	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:21609204G>T	ENST00000379510.3	+	15	1758	c.1722G>T	c.(1720-1722)gaG>gaT	p.E574D	CNKSR2_ENST00000279451.4_Missense_Mutation_p.E574D|CNKSR2_ENST00000425654.2_Missense_Mutation_p.E544D|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000543067.1_Missense_Mutation_p.E525D	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	574	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.E574D(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GTGACTGTGAGGGCTGGCTTT	0.393																																							uc004czx.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(1720-1722)GAG>GAT		connector enhancer of kinase suppressor of Ras							123.0	121.0	121.0					X																	21609204		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21609204G>T	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.1722G>T	X.37:g.21609204G>T	ENSP00000368824:p.Glu574Asp					CNKSR2_uc004czw.2_Missense_Mutation_p.E574D|CNKSR2_uc011mjn.1_Missense_Mutation_p.E525D|CNKSR2_uc011mjo.1_Missense_Mutation_p.E544D|CNKSR2_uc004czy.2_Missense_Mutation_p.E166D	p.E574D	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN			15	1758	+			574			PH.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.1722G>T	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	A	16.42	3.117363	0.56505	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	5.29	1.27	0.21489	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.046290	0.85682	D	0.000000	T	0.28400	0.0702	L	0.49699	1.58	0.43014	D	0.994553	B;D;D;P	0.76494	0.3;0.96;0.999;0.908	P;P;D;P	0.70487	0.548;0.814;0.969;0.842	T	0.02813	-1.1107	10	0.13853	T	0.58	-21.3885	11.6936	0.51529	0.4053:0.0:0.5947:0.0	.	544;525;166;574	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	D	544;525;574;574	ENSP00000397906:E544D;ENSP00000444633:E525D;ENSP00000279451:E574D;ENSP00000368824:E574D	ENSP00000279451:E574D	E	+	3	2	CNKSR2	21519125	0.993000	0.37304	0.997000	0.53966	0.959000	0.62525	0.239000	0.18023	-0.158000	0.11040	-1.308000	0.01314	GAG		0.393	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		42	183	1	0	1.47244e-24	0.00623	2.23557e-24	42	183				
FTHL17	53940	broad.mit.edu	37	X	31089831	31089831	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:31089831G>C	ENST00000359202.3	-	1	339	c.240C>G	c.(238-240)caC>caG	p.H80Q		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	80	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)	p.H80Q(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GAAGGCAGATGTGGCCACCGC	0.597																																							uc004dcl.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(238-240)CAC>CAG		ferritin, heavy polypeptide-like 17							62.0	55.0	57.0					X																	31089831		2202	4300	6502	SO:0001583	missense	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089831G>C	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.240C>G	X.37:g.31089831G>C	ENSP00000368207:p.His80Gln						p.H80Q	NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN			1	343	-			80			Ferritin-like diiron.		Q6NT24|Q6NTE2	Missense_Mutation	SNP	ENST00000359202.3	37	c.240C>G	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840225	0.32513	.	.	ENSG00000132446	ENST00000359202	T	0.61742	0.08	3.46	0.631	0.17699	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.408346	0.25786	N	0.028318	T	0.40372	0.1114	L	0.28608	0.87	0.09310	N	0.999999	B	0.19583	0.037	B	0.28465	0.09	T	0.32824	-0.9892	10	0.66056	D	0.02	.	3.8859	0.09097	0.2356:0.0:0.573:0.1914	.	80	Q9BXU8	FHL17_HUMAN	Q	80	ENSP00000368207:H80Q	ENSP00000368207:H80Q	H	-	3	2	FTHL17	30999752	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.063000	0.11655	0.008000	0.14787	0.544000	0.68410	CAC		0.597	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		16	81	0	0	0	0.004007	0	16	81				
CYBB	1536	broad.mit.edu	37	X	37639333	37639333	+	Start_Codon_SNP	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:37639333G>T	ENST00000378588.4	+	1	70	c.3G>T	c.(1-3)atG>atT	p.M1I	CYBB_ENST00000536160.1_5'UTR|CYBB_ENST00000545017.1_Start_Codon_SNP_p.M1I|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	1					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)	p.M1I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	CTGCCACCATGGGGAACTGGG	0.433																																							uc004ddr.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1-3)ATG>ATT		cytochrome b-245 beta polypeptide							121.0	101.0	108.0					X																	37639333		2202	4300	6502	SO:0001582	initiator_codon_variant	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37639333G>T	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.3G>T	X.37:g.37639333G>T	ENSP00000367851:p.Met1Ile					CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.M1I	p.M1I	NM_000397	NP_000388	P04839	CY24B_HUMAN			1	64	+			1					A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	c.3G>T	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243025	0.79912	.	.	ENSG00000165168	ENST00000378588;ENST00000545017	D;D	0.98120	-4.73;-3.62	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.98635	0.9543	.	.	.	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.79784	0.993;0.985	D	0.99541	1.0963	9	0.54805	T	0.06	.	17.0041	0.86388	0.0:0.0:1.0:0.0	.	1;1	F5GWD2;P04839	.;CY24B_HUMAN	I	1	ENSP00000367851:M1I;ENSP00000441896:M1I	ENSP00000367851:M1I	M	+	3	0	CYBB	37524277	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.450000	0.90340	2.278000	0.76064	0.422000	0.28245	ATG		0.433	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1		Missense_Mutation	6	41	1	0	0.00116845	0.001168	0.00128053	6	41				
SYTL5	94122	broad.mit.edu	37	X	37985950	37985950	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:37985950G>T	ENST00000357972.5	+	17	2706	c.2160G>T	c.(2158-2160)atG>atT	p.M720I	SYTL5_ENST00000456733.2_Missense_Mutation_p.M742I|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.M720I			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	720					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.M720I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GTGTACTCATGCTTCGTTCCA	0.512																																							uc004ddu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2158-2160)ATG>ATT		synaptotagmin-like 5 isoform 1							78.0	56.0	63.0					X																	37985950		2202	4300	6502	SO:0001583	missense	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37985950G>T		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.2160G>T	X.37:g.37985950G>T	ENSP00000350657:p.Met720Ile					SYTL5_uc004ddv.2_Missense_Mutation_p.M720I|SYTL5_uc004ddx.2_Missense_Mutation_p.M742I	p.M720I	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			18	2694	+			720					A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	c.2160G>T	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.400804	0.83120	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.62498	0.02;0.02;0.02	6.05	6.05	0.98169	C2 calcium/lipid-binding domain, CaLB (1);	0.076022	0.85682	D	0.000000	T	0.71592	0.3358	M	0.68317	2.08	0.51012	D	0.999901	D;B	0.58620	0.983;0.146	P;B	0.53102	0.718;0.053	T	0.66578	-0.5888	10	0.19590	T	0.45	-9.4541	19.4924	0.95056	0.0:0.0:1.0:0.0	.	742;720	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	I	720;720;742	ENSP00000297875:M720I;ENSP00000350657:M720I;ENSP00000395220:M742I	ENSP00000297875:M720I	M	+	3	0	SYTL5	37870894	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.860000	0.86993	2.558000	0.86282	0.594000	0.82650	ATG		0.512	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780		7	25	1	0	0.00198382	0.001984	0.00215858	7	25				
RP2	6102	broad.mit.edu	37	X	46719490	46719490	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:46719490G>C	ENST00000218340.3	+	3	997	c.836G>C	c.(835-837)aGg>aCg	p.R279T		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	279					cell morphogenesis (GO:0000902)|CTP biosynthetic process (GO:0006241)|cytoskeleton organization (GO:0007010)|GTP biosynthetic process (GO:0006183)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein transport (GO:0015031)|UTP biosynthetic process (GO:0006228)|visual perception (GO:0007601)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|periciliary membrane compartment (GO:1990075)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|nucleoside diphosphate kinase activity (GO:0004550)|unfolded protein binding (GO:0051082)	p.R279T(1)		NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						GATGCTCAAAGGGTTTTTCGG	0.368																																							uc004dgw.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(835-837)AGG>ACG		XRP2 protein							103.0	92.0	96.0					X																	46719490		2203	4300	6503	SO:0001583	missense	6102				cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding	g.chrX:46719490G>C	AJ007590	CCDS14270.1	Xp11.3	2013-01-08			ENSG00000102218	ENSG00000102218			10274	protein-coding gene	gene with protein product		300757				6325945, 9697692, 19852809	Standard	NM_006915		Approved	TBCCD2, NME10, NM23-H10	uc004dgw.4	O75695	OTTHUMG00000021430	ENST00000218340.3:c.836G>C	X.37:g.46719490G>C	ENSP00000218340:p.Arg279Thr						p.R279T	NM_006915	NP_008846	O75695	XRP2_HUMAN			3	1025	+			279					Q86XJ7|Q9NU67	Missense_Mutation	SNP	ENST00000218340.3	37	c.836G>C	CCDS14270.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343337	0.61073	.	.	ENSG00000102218	ENST00000218340	T	0.76578	-1.03	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.76926	0.4056	M	0.72894	2.215	0.80722	D	1	P	0.44521	0.837	B	0.36989	0.238	T	0.82012	-0.0668	10	0.72032	D	0.01	-16.4637	18.0674	0.89395	0.0:0.0:1.0:0.0	.	279	O75695	XRP2_HUMAN	T	279	ENSP00000218340:R279T	ENSP00000218340:R279T	R	+	2	0	RP2	46604434	1.000000	0.71417	0.990000	0.47175	0.921000	0.55340	8.717000	0.91425	2.288000	0.76882	0.600000	0.82982	AGG		0.368	RP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056375.1	NM_006915		4	71	0	0	0	0.001168	0	4	71				
PORCN	64840	broad.mit.edu	37	X	48372655	48372656	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:48372655_48372656CT>AA	ENST00000326194.6	+	8	790_791	c.747_748CT>AA	c.(745-750)gtCTcc>gtAAcc	p.S250T	PORCN_ENST00000367574.4_Missense_Mutation_p.S168T|PORCN_ENST00000359882.4_Missense_Mutation_p.S244T|PORCN_ENST00000355092.3_Missense_Mutation_p.S244T|PORCN_ENST00000355961.4_Missense_Mutation_p.S245T|PORCN_ENST00000537758.1_Missense_Mutation_p.S250T|PORCN_ENST00000361988.3_Missense_Mutation_p.S239T	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	250					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)	p.S250T(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGAGTGCTGTCTCCTTCCACTT	0.579																																							uc010nie.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(745-750)GTCTCC>GTAACC		porcupine isoform D																																				SO:0001583	missense	64840				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	g.chrX:48372655_48372656CT>AA	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	Exception_encountered	X.37:g.48372655_48372656delinsAA	ENSP00000322304:p.Ser250Thr					PORCN_uc004djr.1_Missense_Mutation_p.S245T|PORCN_uc004djs.1_Missense_Mutation_p.S239T|PORCN_uc004djt.1_Missense_Mutation_p.S168T|PORCN_uc011mlx.1_Missense_Mutation_p.S168T|PORCN_uc004dju.1_Missense_Mutation_p.S108T|PORCN_uc004djv.1_Missense_Mutation_p.S250T|PORCN_uc004djw.1_Missense_Mutation_p.S244T	p.S250T	NM_203475	NP_982301	Q9H237	PORCN_HUMAN			9	905_906	+			250			Extracellular (Potential).		B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	DNP	ENST00000326194.6	37	c.747_748CT>AA	CCDS14299.1																																																																																				0.579	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825		19	109	0	0	0	0.004672	0	19	109				
SUV39H1	6839	broad.mit.edu	37	X	48558965	48558965	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:48558965C>A	ENST00000376687.3	+	3	839	c.649C>A	c.(649-651)Ctg>Atg	p.L217M	AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000453214.2_Silent_p.G64G|SUV39H1_ENST00000337852.6_Missense_Mutation_p.L228M	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	217	Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.L217M(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TCGAGCCGGGCTGCCCATCTA	0.622																																							uc004dkn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(649-651)CTG>ATG		suppressor of variegation 3-9 homolog 1							52.0	46.0	48.0					X																	48558965		2203	4300	6503	SO:0001583	missense	6839				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding	g.chrX:48558965C>A	AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.649C>A	X.37:g.48558965C>A	ENSP00000365877:p.Leu217Met					SUV39H1_uc011mmf.1_Missense_Mutation_p.L228M|SUV39H1_uc011mmg.1_RNA	p.L217M	NM_003173	NP_003164	O43463	SUV91_HUMAN			3	694	+			217			Pre-SET.		B2R6E8|B4DST0|Q53G60|Q6FHK6	Missense_Mutation	SNP	ENST00000376687.3	37	c.649C>A	CCDS14304.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872148	0.51695	.	.	ENSG00000101945	ENST00000337852;ENST00000376687;ENST00000422496	T;T	0.76578	-1.03;-1.03	5.06	5.06	0.68205	Pre-SET zinc-binding sub-group (1);Pre-SET domain (2);	0.496855	0.19352	N	0.116362	T	0.63486	0.2515	N	0.20685	0.6	0.80722	D	1	B;B	0.16802	0.009;0.019	B;B	0.26614	0.071;0.045	T	0.58567	-0.7614	10	0.29301	T	0.29	.	8.653	0.34046	0.0:0.8935:0.0:0.1065	.	228;217	B4DST0;O43463	.;SUV91_HUMAN	M	228;217;75	ENSP00000337976:L228M;ENSP00000365877:L217M	ENSP00000337976:L228M	L	+	1	2	SUV39H1	48443909	0.002000	0.14202	1.000000	0.80357	0.993000	0.82548	0.058000	0.14301	2.082000	0.62665	0.591000	0.81541	CTG		0.622	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058909.1	NM_003173		8	45	1	0	3.09899e-07	0.004482	3.85895e-07	8	45				
TFE3	7030	broad.mit.edu	37	X	48896717	48896717	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:48896717G>A	ENST00000315869.7	-	3	708	c.449C>T	c.(448-450)cCt>cTt	p.P150L	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	150					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.P150L(2)	NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						AGAGATGGCAGGAGAGGCAGG	0.672			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																		uc004dmb.3		NA		Dom	yes		X	Xp11.22	7030	T	transcription factor binding to IGHM enhancer 3			E	SFPQ|ASPSCR1|PRCC|NONO|CLTC		papillary renal|alveolar soft part sarcoma|renal	ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2)	2	Substitution - Missense(2)		lung(2)	soft_tissue(120)|kidney(76)|central_nervous_system(1)	197						c.(448-450)CCT>CTT		transcription factor E3							28.0	29.0	29.0					X																	48896717		2202	4298	6500	SO:0001583	missense	7030				humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chrX:48896717G>A	X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.449C>T	X.37:g.48896717G>A	ENSP00000314129:p.Pro150Leu					TFE3_uc004dmc.3_Missense_Mutation_p.P45L|TFE3_uc004dme.1_RNA	p.P150L	NM_006521	NP_006512	P19532	TFE3_HUMAN			3	687	-			150					A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	ENST00000315869.7	37	c.449C>T	CCDS14315.3	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063589	0.76187	.	.	ENSG00000068323	ENST00000315869	T	0.18174	2.23	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.22044	0.0531	M	0.62723	1.935	0.80722	D	1	P	0.50066	0.931	B	0.42112	0.376	T	0.01998	-1.1232	10	0.45353	T	0.12	-11.8078	14.9231	0.70856	0.0:0.0:1.0:0.0	.	150	P19532	TFE3_HUMAN	L	150	ENSP00000314129:P150L	ENSP00000314129:P150L	P	-	2	0	TFE3	48783661	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.082000	0.94059	2.224000	0.72417	0.513000	0.50165	CCT		0.672	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058872.2	NM_006521		5	29	0	0	0	0.000602	0	5	29				
CACNA1F	778	broad.mit.edu	37	X	49079432	49079432	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:49079432T>A	ENST00000376265.2	-	15	2135	c.2074A>T	c.(2074-2076)Agc>Tgc	p.S692C	CACNA1F_ENST00000480889.1_5'UTR|CACNA1F_ENST00000323022.5_Missense_Mutation_p.S681C|CACNA1F_ENST00000376251.1_Missense_Mutation_p.S627C	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	692					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)	p.S692C(1)		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)	TCAAAGGTGCTTCGCTTGGTG	0.562																																							uc004dnb.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(2074-2076)AGC>TGC		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						96.0	72.0	80.0					X																	49079432		2202	4299	6501	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:49079432T>A	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.2074A>T	X.37:g.49079432T>A	ENSP00000365441:p.Ser692Cys					CACNA1F_uc010nip.2_Missense_Mutation_p.S681C	p.S692C	NM_005183	NP_005174	O60840	CAC1F_HUMAN			15	2136	-			692			Extracellular (Potential).|II.		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.2074A>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	.	19.07	3.754977	0.69648	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98717	-5.09;-5.09;-5.09	3.97	3.97	0.46021	Ion transport (1);	0.524458	0.21181	N	0.078808	D	0.98880	0.9621	M	0.89095	3.005	0.30377	N	0.78231	D;D	0.55172	0.963;0.97	P;P	0.58013	0.74;0.831	D	0.97277	0.9915	10	0.87932	D	0	.	11.2299	0.48905	0.0:0.0:0.0:1.0	.	681;692	F5CIQ9;O60840	.;CAC1F_HUMAN	C	627;681;692	ENSP00000365427:S627C;ENSP00000321618:S681C;ENSP00000365441:S692C	ENSP00000321618:S681C	S	-	1	0	CACNA1F	48966376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.014000	0.70784	1.483000	0.48342	0.336000	0.21669	AGC		0.562	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		4	11	0	0	0	0.009096	0	4	11				
PJA1	64219	broad.mit.edu	37	X	68382067	68382067	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:68382067G>A	ENST00000361478.1	-	2	1392	c.1015C>T	c.(1015-1017)Ccg>Tcg	p.P339S	PJA1_ENST00000477231.1_5'Flank|PJA1_ENST00000374583.1_Missense_Mutation_p.P339S|PJA1_ENST00000374584.3_Missense_Mutation_p.P151S|PJA1_ENST00000374571.4_Missense_Mutation_p.P284S	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	339					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P339S(1)|p.P151S(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CGTCGTCTCGGCACCTTTTCT	0.522																																							uc004dxh.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1015-1017)CCG>TCG		praja 1 isoform a							125.0	75.0	92.0					X																	68382067		2203	4300	6503	SO:0001583	missense	64219						zinc ion binding	g.chrX:68382067G>A	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.1015C>T	X.37:g.68382067G>A	ENSP00000355014:p.Pro339Ser					PJA1_uc011mpi.1_Missense_Mutation_p.P57S|PJA1_uc004dxg.2_Missense_Mutation_p.P151S|PJA1_uc004dxi.2_Missense_Mutation_p.P284S	p.P339S	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN			2	1301	-			339					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Missense_Mutation	SNP	ENST00000361478.1	37	c.1015C>T	CCDS14393.1	.	.	.	.	.	.	.	.	.	.	g	7.490	0.650462	0.14516	.	.	ENSG00000181191	ENST00000396010;ENST00000374584;ENST00000374583;ENST00000361478;ENST00000374571	T;T;T;T	0.04970	3.52;3.52;3.52;3.52	3.41	1.59	0.23543	.	0.272597	0.25497	U	0.030268	T	0.03827	0.0108	L	0.34521	1.04	0.09310	N	1	B;B	0.19331	0.02;0.035	B;B	0.17722	0.008;0.019	T	0.44651	-0.9314	10	0.12103	T	0.63	-1.5843	3.5427	0.07818	0.1391:0.0:0.6138:0.2471	.	339;151	Q8NG27;Q8NG27-2	PJA1_HUMAN;.	S	254;151;339;339;284	ENSP00000363712:P151S;ENSP00000363711:P339S;ENSP00000355014:P339S;ENSP00000363699:P284S	ENSP00000355014:P339S	P	-	1	0	PJA1	68298792	0.005000	0.15991	0.001000	0.08648	0.038000	0.13279	0.624000	0.24462	0.305000	0.22832	-0.358000	0.07595	CCG		0.522	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		5	43	0	0	0	0.000602	0	5	43				
KIF4A	24137	broad.mit.edu	37	X	69516870	69516870	+	Silent	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:69516870C>A	ENST00000374403.3	+	4	340	c.258C>A	c.(256-258)gcC>gcA	p.A86A	KIF4A_ENST00000374388.3_Silent_p.A86A|KIF4A_ENST00000485406.1_3'UTR	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	86	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.A86A(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CGGTCCTGGCCTATGGGCAGA	0.413																																							uc004dyg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(256-258)GCC>GCA		kinesin family member 4							86.0	81.0	83.0					X																	69516870		2203	4300	6503	SO:0001819	synonymous_variant	24137				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chrX:69516870C>A	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.258C>A	X.37:g.69516870C>A						KIF4A_uc010nkw.2_Silent_p.A86A|KIF4A_uc004dyf.1_Silent_p.A86A	p.A86A	NM_012310	NP_036442	O95239	KIF4A_HUMAN			4	385	+			86			Kinesin-motor.		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Silent	SNP	ENST00000374403.3	37	c.258C>A	CCDS14401.1																																																																																				0.413	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310		19	112	1	0	1.96292e-10	0.010504	2.61532e-10	19	112				
TEX11	56159	broad.mit.edu	37	X	69898725	69898725	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:69898725T>A	ENST00000395889.2	-	16	1371	c.1216A>T	c.(1216-1218)Aga>Tga	p.R406*	TEX11_ENST00000374320.2_Nonsense_Mutation_p.R81*|TEX11_ENST00000344304.3_Nonsense_Mutation_p.R406*|TEX11_ENST00000374333.2_Nonsense_Mutation_p.R391*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	406					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.R391*(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GTCAGTTGTCTTCCTGTTTGG	0.428																																							uc004dyl.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(1216-1218)AGA>TGA		testis expressed sequence 11 isoform 1							103.0	90.0	94.0					X																	69898725		2203	4300	6503	SO:0001587	stop_gained	56159						protein binding	g.chrX:69898725T>A	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1216A>T	X.37:g.69898725T>A	ENSP00000379226:p.Arg406*					TEX11_uc004dyk.2_Nonsense_Mutation_p.R81*|TEX11_uc004dym.2_Nonsense_Mutation_p.R391*	p.R406*	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN			16	1378	-	Renal(35;0.156)		406					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Nonsense_Mutation	SNP	ENST00000395889.2	37	c.1216A>T	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	T	37	6.567824	0.97671	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	.	.	.	4.57	3.39	0.38822	.	0.347909	0.29106	N	0.013122	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.5008	6.0346	0.19699	0.0:0.1183:0.0:0.8817	.	.	.	.	X	391;406;81;406	.	.	R	-	1	2	TEX11	69815450	1.000000	0.71417	0.034000	0.17996	0.410000	0.31052	2.923000	0.48868	0.606000	0.29965	0.412000	0.27726	AGA		0.428	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			4	33	0	0	0	0.000602	0	4	33				
TBX22	50945	broad.mit.edu	37	X	79286509	79286509	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:79286509G>T	ENST00000373294.5	+	8	1490	c.1462G>T	c.(1462-1464)Ggt>Tgt	p.G488C	TBX22_ENST00000373291.1_Missense_Mutation_p.G368C|TBX22_ENST00000442340.1_Missense_Mutation_p.G368C|TBX22_ENST00000373296.3_Missense_Mutation_p.G488C	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	488					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G488C(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACTGATAAGTGGTTCCAACCA	0.383																																							uc010nmg.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(1462-1464)GGT>TGT		T-box 22 isoform 1							81.0	72.0	75.0					X																	79286509		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286509G>T	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1462G>T	X.37:g.79286509G>T	ENSP00000362390:p.Gly488Cys					TBX22_uc004edi.1_Missense_Mutation_p.G368C|TBX22_uc004edj.1_Missense_Mutation_p.G488C	p.G488C	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			9	1596	+			488					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.1462G>T	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	G	2.677	-0.276263	0.05679	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.86562	-2.14;-1.85;-2.14;-1.85	3.96	2.13	0.27403	.	1.504630	0.04365	N	0.358109	T	0.75810	0.3900	N	0.08118	0	0.09310	N	1	P	0.35600	0.511	B	0.34824	0.19	T	0.67158	-0.5741	10	0.59425	D	0.04	.	6.5033	0.22182	0.1019:0.0:0.7191:0.179	.	488	Q9Y458	TBX22_HUMAN	C	488;368;488;368	ENSP00000362393:G488C;ENSP00000396394:G368C;ENSP00000362390:G488C;ENSP00000362388:G368C	ENSP00000362388:G368C	G	+	1	0	TBX22	79173165	0.145000	0.22656	0.061000	0.19648	0.016000	0.09150	0.470000	0.22084	0.190000	0.20209	-0.312000	0.09012	GGT		0.383	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		15	58	1	0	0.000308642	0.003163	0.00034827	15	58				
BRWD3	254065	broad.mit.edu	37	X	79937526	79937526	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:79937526C>A	ENST00000373275.4	-	39	4681	c.4465G>T	c.(4465-4467)Gcc>Tcc	p.A1489S	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1489					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.A1489S(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTAGTCCTGGCATGAGATACT	0.373																																							uc004edt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(4465-4467)GCC>TCC		bromodomain and WD repeat domain containing 3							212.0	178.0	189.0					X																	79937526		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79937526C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4465G>T	X.37:g.79937526C>A	ENSP00000362372:p.Ala1489Ser					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.A1085S|BRWD3_uc004edp.2_Missense_Mutation_p.A1318S|BRWD3_uc004edq.2_Missense_Mutation_p.A1085S|BRWD3_uc010nmj.1_Missense_Mutation_p.A1085S|BRWD3_uc004edr.2_Missense_Mutation_p.A1159S|BRWD3_uc004eds.2_Missense_Mutation_p.A1085S|BRWD3_uc004edu.2_Missense_Mutation_p.A1159S|BRWD3_uc004edv.2_Missense_Mutation_p.A1085S|BRWD3_uc004edw.2_Missense_Mutation_p.A1085S|BRWD3_uc004edx.2_Missense_Mutation_p.A1085S|BRWD3_uc004edy.2_Missense_Mutation_p.A1085S|BRWD3_uc004edz.2_Missense_Mutation_p.A1159S|BRWD3_uc004eea.2_Missense_Mutation_p.A1159S|BRWD3_uc004eeb.2_Missense_Mutation_p.A1085S	p.A1489S	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			39	4728	-			1489					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4465G>T	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.847073	0.32606	.	.	ENSG00000165288	ENST00000373275	T	0.51817	0.69	5.2	4.09	0.47781	.	0.335622	0.32563	N	0.005922	T	0.14700	0.0355	N	0.01576	-0.805	0.27407	N	0.954699	B	0.25667	0.131	B	0.17433	0.018	T	0.09662	-1.0664	9	.	.	.	-2.3657	2.5605	0.04771	0.0:0.4532:0.2993:0.2475	.	1489	Q6RI45	BRWD3_HUMAN	S	1489	ENSP00000362372:A1489S	.	A	-	1	0	BRWD3	79824182	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.248000	0.51430	2.293000	0.77203	0.415000	0.27848	GCC		0.373	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		21	91	1	0	2.39556e-15	0.00278	3.42117e-15	21	91				
PCDH11X	27328	broad.mit.edu	37	X	91131800	91131800	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:91131800C>T	ENST00000373094.1	+	2	1406	c.561C>T	c.(559-561)ctC>ctT	p.L187L	PCDH11X_ENST00000373097.1_Silent_p.L187L|PCDH11X_ENST00000361724.1_Silent_p.L187L|PCDH11X_ENST00000361655.2_Silent_p.L187L|PCDH11X_ENST00000298274.8_Silent_p.L187L|PCDH11X_ENST00000395337.2_Silent_p.L187L|PCDH11X_ENST00000406881.1_Silent_p.L187L|PCDH11X_ENST00000504220.2_Silent_p.L187L|PCDH11X_ENST00000373088.1_Silent_p.L187L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	187	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L187L(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTTTTGGCCTCGATGTCATTG	0.303																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	3	Substitution - coding silent(3)		lung(3)	large_intestine(2)	2						c.(559-561)CTC>CTT		protocadherin 11 X-linked isoform c							45.0	40.0	42.0					X																	91131800		2201	4277	6478	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91131800C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.561C>T	X.37:g.91131800C>T						PCDH11X_uc004efl.1_Silent_p.L187L|PCDH11X_uc004efo.1_Silent_p.L187L|PCDH11X_uc010nmv.1_Silent_p.L187L|PCDH11X_uc004efm.1_Silent_p.L187L|PCDH11X_uc004efn.1_Silent_p.L187L|PCDH11X_uc004efh.1_Silent_p.L187L|PCDH11X_uc004efj.1_Silent_p.L187L	p.L187L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	1406	+			187			Extracellular (Potential).|Cadherin 2.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.561C>T	CCDS14461.1																																																																																				0.303	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		10	63	0	0	0	0.001855	0	10	63				
RPA4	29935	broad.mit.edu	37	X	96139496	96139496	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:96139496G>A	ENST00000373040.3	+	1	590	c.187G>A	c.(187-189)Gtg>Atg	p.V63M	DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373049.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	63					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)	p.V63M(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GTTTGACCCTGTGTTCAAGGT	0.453								Other identified genes with known or suspected DNA repair function																															uc004efv.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(187-189)GTG>ATG	Other_identified_genes_with_known_or_suspected_DNA_repair_function	replication protein A4, 34kDa							143.0	123.0	129.0					X																	96139496		2203	4300	6503	SO:0001583	missense	29935				DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	g.chrX:96139496G>A	U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.187G>A	X.37:g.96139496G>A	ENSP00000362131:p.Val63Met					DIAPH2_uc004eft.3_Intron|DIAPH2_uc004efu.3_Intron|DIAPH2_uc004efs.2_Intron	p.V63M	NM_013347	NP_037479	Q13156	RFA4_HUMAN			1	485	+			63					Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	37	c.187G>A	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022691	0.35701	.	.	ENSG00000204086	ENST00000373040	T	0.47869	0.83	3.38	0.632	0.17705	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.29914	0.0748	L	0.31926	0.97	0.09310	N	1	B	0.32350	0.366	B	0.23419	0.046	T	0.12993	-1.0526	9	0.49607	T	0.09	-13.0666	5.3021	0.15783	0.4143:0.0:0.5857:0.0	.	63	Q13156	RFA4_HUMAN	M	63	ENSP00000362131:V63M	ENSP00000362131:V63M	V	+	1	0	RPA4	96026152	0.096000	0.21769	0.000000	0.03702	0.039000	0.13416	0.750000	0.26334	0.002000	0.14630	0.600000	0.82982	GTG		0.453	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347		15	74	0	0	0	0.004007	0	15	74				
SRPX2	27286	broad.mit.edu	37	X	99921880	99921880	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:99921880G>A	ENST00000373004.3	+	8	1339	c.911G>A	c.(910-912)cGg>cAg	p.R304Q		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	304	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.R304Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						ACACCCTCCCGGGTCTGTCAG	0.597													G|||	1	0.000264901	0.0008	0.0	3775	,	,		11289	0.0		0.0	False		,,,				2504	0.0						uc004egb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(910-912)CGG>CAG		sushi-repeat-containing protein, X-linked 2							35.0	30.0	31.0					X																	99921880		2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99921880G>A	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.911G>A	X.37:g.99921880G>A	ENSP00000362095:p.Arg304Gln						p.R304Q	NM_014467	NP_055282	O60687	SRPX2_HUMAN			8	1391	+			304			Sushi 3.		B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.911G>A	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	G	36	5.752949	0.96890	.	.	ENSG00000102359	ENST00000373004	T	0.65178	-0.14	5.26	5.26	0.73747	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.82852	0.5127	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85743	0.1338	9	.	.	.	-12.8337	18.28	0.90096	0.0:0.0:1.0:0.0	.	304	O60687	SRPX2_HUMAN	Q	304	ENSP00000362095:R304Q	.	R	+	2	0	SRPX2	99808536	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	9.154000	0.94694	2.343000	0.79666	0.529000	0.55759	CGG		0.597	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		11	39	0	0	0	0.008291	0	11	39				
NRK	203447	broad.mit.edu	37	X	105152952	105152952	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:105152952A>C	ENST00000243300.9	+	13	1622	c.1319A>C	c.(1318-1320)cAa>cCa	p.Q440P	NRK_ENST00000428173.2_Missense_Mutation_p.Q441P	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	440	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.Q440P(1)|p.Q441P(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAACGACTACAAGGGGCAGCT	0.562										HNSCC(51;0.14)																													uc004emd.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(1318-1320)CAA>CCA		Nik related kinase							37.0	39.0	38.0					X																	105152952		2051	4163	6214	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105152952A>C	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1319A>C	X.37:g.105152952A>C	ENSP00000434830:p.Gln440Pro	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.Q108P	p.Q440P	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			13	1622	+			440			Gln-rich.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.1319A>C		.	.	.	.	.	.	.	.	.	.	A	10.51	1.370804	0.24771	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.28069	1.63;1.63	4.49	1.9	0.25705	.	1.250950	0.05594	N	0.575155	T	0.30885	0.0779	L	0.59436	1.845	0.19945	N	0.999947	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.32798	-0.9893	10	0.66056	D	0.02	.	5.371	0.16140	0.7266:0.174:0.0994:0.0	.	108;440	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	P	440;441	ENSP00000434830:Q440P;ENSP00000438378:Q441P	ENSP00000434830:Q440P	Q	+	2	0	NRK	105039608	0.026000	0.19158	0.002000	0.10522	0.981000	0.71138	1.303000	0.33470	0.264000	0.21851	0.486000	0.48141	CAA		0.562	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		6	27	0	0	0	0.001168	0	6	27				
GPC4	2239	broad.mit.edu	37	X	132437228	132437228	+	Silent	SNP	T	T	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:132437228T>A	ENST00000370828.3	-	8	1958	c.1434A>T	c.(1432-1434)gcA>gcT	p.A478A	GPC4_ENST00000535467.1_Silent_p.A408A	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	478					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.A478A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TCCCATTGTATGCATTCTTCA	0.438																																							uc004exc.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1432-1434)GCA>GCT		glypican 4 precursor							262.0	206.0	225.0					X																	132437228		2203	4300	6503	SO:0001819	synonymous_variant	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132437228T>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.1434A>T	X.37:g.132437228T>A						GPC4_uc011mvg.1_Silent_p.A408A	p.A478A	NM_001448	NP_001439	O75487	GPC4_HUMAN			8	1646	-	Acute lymphoblastic leukemia(192;0.000127)		478					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Silent	SNP	ENST00000370828.3	37	c.1434A>T	CCDS14637.1																																																																																				0.438	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		26	106	0	0	0	0.00632	0	26	106				
MCF2	4168	broad.mit.edu	37	X	138728982	138728982	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:138728982C>A	ENST00000519895.1	-	3	271	c.106G>T	c.(106-108)Gca>Tca	p.A36S	MCF2_ENST00000414978.1_Missense_Mutation_p.A36S|MCF2_ENST00000520602.1_Missense_Mutation_p.A36S|MCF2_ENST00000370578.4_Missense_Mutation_p.A121S	NM_001171876.1	NP_001165347.1	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A36S(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AGTACTTTTGCTATTACTTCC	0.328																																							uc011mwn.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|pleura(1)	2						c.(361-363)GCA>TCA		SubName: Full=MCF.2 cell line derived transforming sequence;							57.0	51.0	53.0					X																	138728982		1854	4083	5937	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138728982C>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000519895.1:c.106G>T	X.37:g.138728982C>A	ENSP00000430276:p.Ala36Ser					MCF2_uc004faw.2_Missense_Mutation_p.A36S|MCF2_uc011mwo.1_Missense_Mutation_p.A36S	p.A121S			P10911	MCF2_HUMAN			3	367	-	Acute lymphoblastic leukemia(192;0.000127)		Error:Variant_position_missing_in_P10911_after_alignment					B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000519895.1	37	c.361G>T	CCDS55517.1	.	.	.	.	.	.	.	.	.	.	C	9.800	1.180223	0.21787	.	.	ENSG00000101977	ENST00000520602;ENST00000370578;ENST00000414978;ENST00000519895	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.7	1.42	0.22433	.	0.522366	0.20445	N	0.092208	T	0.28499	0.0705	N	0.03608	-0.345	0.09310	N	0.999997	B;B;B	0.21071	0.01;0.051;0.011	B;B;B	0.19946	0.014;0.027;0.021	T	0.19451	-1.0305	10	0.08599	T	0.76	.	4.1268	0.10131	0.0:0.3379:0.18:0.4821	.	36;121;121	E9PH77;B7Z3Z2;Q5JYJ7	.;.;.	S	36;121;36;36	ENSP00000427745:A36S;ENSP00000359610:A121S;ENSP00000397055:A36S;ENSP00000430276:A36S	ENSP00000359610:A121S	A	-	1	0	MCF2	138556648	0.001000	0.12720	0.713000	0.30519	0.995000	0.86356	-0.199000	0.09491	0.201000	0.20466	0.600000	0.82982	GCA		0.328	MCF2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377602.1	NM_005369		5	18	1	0	0.000602214	0.000602	0.000669616	5	18				
PASD1	139135	broad.mit.edu	37	X	150780226	150780226	+	Splice_Site	SNP	G	G	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:150780226G>T	ENST00000370357.4	+	4	452		c.e4+1			NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1							nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.?(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ACATTTACCAGTAAGTTCTTT	0.328																																							uc004fev.3		NA																	2	Unknown(2)		lung(2)	ovary(3)	3						c.e4+1		PAS domain containing 1							222.0	184.0	197.0					X																	150780226		2203	4300	6503	SO:0001630	splice_region_variant	139135					nucleus	signal transducer activity	g.chrX:150780226G>T	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.207+1G>T	X.37:g.150780226G>T							p.P69_splice	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			4	539	+	Acute lymphoblastic leukemia(192;6.56e-05)							Q3MNE0|Q69HD7|Q8N7X9	Splice_Site	SNP	ENST00000370357.4	37	c.207_splice	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.575638	0.28092	.	.	ENSG00000166049	ENST00000370357	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6939	0.62564	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PASD1	150530882	1.000000	0.71417	0.966000	0.40874	0.295000	0.27426	6.451000	0.73481	2.301000	0.77427	0.538000	0.68166	.		0.328	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493	Intron	16	80	1	0	3.52763e-06	0.00499	4.19825e-06	16	80				
MAGEA6	4105	broad.mit.edu	37	X	151870189	151870189	+	Silent	SNP	C	C	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:151870189C>T	ENST00000329342.5	+	3	1104	c.879C>T	c.(877-879)atC>atT	p.I293I		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	293	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.I293I(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTAAAGATCAGTGGAGGAC	0.557																																							uc004ffq.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(877-879)ATC>ATT		melanoma antigen family A, 6							150.0	143.0	146.0					X																	151870189		2202	4298	6500	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151870189C>T		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.879C>T	X.37:g.151870189C>T						MAGEA6_uc004ffr.1_Silent_p.I293I|MAGEA2_uc010nto.2_Intron	p.I293I	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	1073	+	Acute lymphoblastic leukemia(192;6.56e-05)		293			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.879C>T	CCDS14708.1																																																																																				0.557	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		57	200	0	0	0	0.00361	0	57	200				
ZNF275	10838	broad.mit.edu	37	X	152613093	152613093	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:152613093G>A	ENST00000421401.3	+	4	1127	c.950G>A	c.(949-951)gGc>gAc	p.G317D	ZNF275_ENST00000440091.1_Missense_Mutation_p.G347D|ZNF275_ENST00000370249.2_Missense_Mutation_p.G264D|ZNF275_ENST00000370251.3_Missense_Mutation_p.G317D			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	317					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G264D(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCCACACGGGCGAGAAGCCC	0.682																																							uc004fhg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(949-951)GGC>GAC		SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;							16.0	18.0	17.0					X																	152613093		2200	4293	6493	SO:0001583	missense	10838					intracellular	nucleic acid binding|zinc ion binding	g.chrX:152613093G>A	BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.950G>A	X.37:g.152613093G>A	ENSP00000398977:p.Gly317Asp					ZNF275_uc011mym.1_Missense_Mutation_p.G317D|ZNF275_uc011myn.1_Missense_Mutation_p.G254D	p.G317D			A6NFS0	A6NFS0_HUMAN			4	1127	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		317					A6NE92	Missense_Mutation	SNP	ENST00000421401.3	37	c.950G>A		.	.	.	.	.	.	.	.	.	.	G	15.22	2.767606	0.49574	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091;ENST00000370249	T;T;T;T	0.26660	4.48;1.72;1.72;1.72	4.35	4.35	0.52113	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41194	D	0.000934	T	0.42966	0.1226	L	0.46947	1.48	0.38470	D	0.947439	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.923	T	0.46275	-0.9203	10	0.72032	D	0.01	-26.8585	13.5464	0.61707	0.0:0.0:1.0:0.0	.	317;317	Q9NSD4;A6NFS0	ZN275_HUMAN;.	D	317;317;347;264	ENSP00000359271:G317D;ENSP00000398977:G317D;ENSP00000411097:G347D;ENSP00000359269:G264D	ENSP00000359269:G264D	G	+	2	0	ZNF275	152266287	1.000000	0.71417	0.492000	0.27490	0.359000	0.29487	4.682000	0.61671	2.153000	0.67306	0.436000	0.28706	GGC		0.682	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485		3	9	0	0	0	0.004672	0	3	9				
MPP1	4354	broad.mit.edu	37	X	154018236	154018236	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chrX:154018236G>A	ENST00000369534.3	-	5	620	c.473C>T	c.(472-474)gCa>gTa	p.A158V	MPP1_ENST00000462825.1_Intron|MPP1_ENST00000393531.1_Missense_Mutation_p.A158V|MPP1_ENST00000413259.3_Missense_Mutation_p.A128V	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	158	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.A158V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CACCTGTAGTGCAGGAAGACG	0.378																																							uc004fmp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(472-474)GCA>GTA		palmitoylated membrane protein 1							120.0	101.0	107.0					X																	154018236		2203	4300	6503	SO:0001583	missense	4354				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	g.chrX:154018236G>A		CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.473C>T	X.37:g.154018236G>A	ENSP00000358547:p.Ala158Val					MPP1_uc010nvg.1_Missense_Mutation_p.A158V|MPP1_uc011mzv.1_Missense_Mutation_p.A128V|MPP1_uc004fmq.1_Missense_Mutation_p.A112V|MPP1_uc011mzw.1_Missense_Mutation_p.A141V|MPP1_uc010nvh.1_Intron	p.A158V	NM_002436	NP_002427	Q00013	EM55_HUMAN			5	588	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		158			SH3.		B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	c.473C>T	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038892	0.55003	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531;ENST00000393529;ENST00000428488	T;T;D;T	0.82255	2.21;2.2;-1.59;1.46	5.73	3.03	0.35002	Src homology-3 domain (2);PDZ/DHR/GLGF (1);	0.278878	0.40064	N	0.001190	T	0.68403	0.2997	N	0.14661	0.345	0.39260	D	0.964197	B;B;B;B	0.22276	0.067;0.008;0.014;0.024	B;B;B;B	0.21151	0.007;0.015;0.033;0.015	T	0.61307	-0.7089	10	0.56958	D	0.05	.	9.4144	0.38512	0.2393:0.0:0.7607:0.0	.	141;128;158;158	B4E325;B4DZV5;G3XAI1;Q00013	.;.;.;EM55_HUMAN	V	158;128;158;112;55	ENSP00000358547:A158V;ENSP00000400155:A128V;ENSP00000377165:A158V;ENSP00000377163:A112V	ENSP00000358547:A158V	A	-	2	0	MPP1	153671430	1.000000	0.71417	0.845000	0.33349	0.964000	0.63967	4.101000	0.57769	0.212000	0.20703	0.513000	0.50165	GCA		0.378	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		8	30	0	0	0	0.004482	0	8	30				
F13B	2165	broad.mit.edu	37	1	197021794	197021794	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:197021794delC	ENST00000367412.1	-	9	1568	c.1525delG	c.(1525-1527)gaafs	p.E509fs	F13B_ENST00000490002.1_5'Flank	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	509	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TATTTCACTTCTCCTCTGTTG	0.328																																							uc001gtt.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1525-1527)GAAfs		coagulation factor XIII B subunit precursor							83.0	84.0	84.0					1																	197021794		2203	4294	6497	SO:0001589	frameshift_variant	2165				blood coagulation	extracellular region		g.chr1:197021794delC	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1525delG	1.37:g.197021794delC	ENSP00000356382:p.Glu509fs						p.E509fs	NM_001994	NP_001985	P05160	F13B_HUMAN			9	1569	-			509			Sushi 8.		A8K3E5|Q5VYL5	Frame_Shift_Del	DEL	ENST00000367412.1	37	c.1525delG	CCDS1388.1																																																																																				0.328	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		15	70	NA	NA	NA	NA	NA	15	70	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216496818	216496818	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr1:216496818delC	ENST00000307340.3	-	8	1934	c.1548delG	c.(1546-1548)gggfs	p.G516fs	USH2A_ENST00000366943.2_Frame_Shift_Del_p.G516fs|USH2A_ENST00000366942.3_Frame_Shift_Del_p.G516fs	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	516	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.		G -> V (in USH2A; unknown pathological significance).		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)		AATAATACCTCCCACTAATGG	0.368										HNSCC(13;0.011)																													uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(1546-1548)GGGfs		usherin isoform B							101.0	98.0	99.0					1																	216496818		2203	4300	6503	SO:0001589	frameshift_variant	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.chr1:216496818delC	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.1548delG	1.37:g.216496818delC	ENSP00000305941:p.Gly516fs	HNSCC(13;0.011)				USH2A_uc001hkv.2_Frame_Shift_Del_p.G516fs	p.G516fs	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	8	1935	-			516		G -> V (in USH2A; uncertain pathogenicity).	Laminin N-terminal.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Frame_Shift_Del	DEL	ENST00000307340.3	37	c.1548delG	CCDS31025.1																																																																																				0.368	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		11	85	NA	NA	NA	NA	NA	11	85	---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55761175	55761176	+	Frame_Shift_Ins	INS	-	-	A			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:55761175_55761176insA	ENST00000278409.1	-	1	925_926	c.926_927insT	c.(925-927)aggfs	p.R309fs		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	309					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)	p.R309M(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGGAAGAGGTCCTTTTCCTGCT	0.351																																							uc010riv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(925-927)AGGfs		olfactory receptor, family 5, subfamily F,																																				SO:0001589	frameshift_variant	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761175_55761176insA	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.926_927insT	11.37:g.55761175_55761176insA	ENSP00000278409:p.Arg309fs						p.R309fs	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	926_927	-	Esophageal squamous(21;0.00448)		309			Cytoplasmic (Potential).		Q495D1|Q6IFB9	Frame_Shift_Ins	INS	ENST00000278409.1	37	c.926_927insT	CCDS31515.1																																																																																				0.351	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		8	45	NA	NA	NA	NA	NA	8	45	---	---	---	---
OR5B17	219965	broad.mit.edu	37	11	58126125	58126126	+	Frame_Shift_Del	DEL	CA	CA	-	rs201522629		TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr11:58126125_58126126delCA	ENST00000357377.3	-	1	416_417	c.417_418delTG	c.(415-420)tgtgctfs	p.A140fs		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A140S(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCCAGACAAGCACACACACGTG	0.45																																							uc010rke.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(415-420)TGTGCTfs		olfactory receptor, family 5, subfamily B,																																				SO:0001589	frameshift_variant	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126125_58126126delCA	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.417_418delTG	11.37:g.58126131_58126132delCA	ENSP00000349945:p.Ala140fs						p.C139fs	NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN			1	417_418	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	139_140			Helical; Name=4; (Potential).		Q6IEX1	Frame_Shift_Del	DEL	ENST00000357377.3	37	c.417_418delTG	CCDS31548.1																																																																																				0.450	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		22	85	NA	NA	NA	NA	NA	22	85	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2815544	2815544	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr16:2815544delC	ENST00000301740.8	+	11	5564	c.5015delC	c.(5014-5016)tccfs	p.S1672fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1672	Arg-rich.|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						CGCAGAGGTTCCAGGTCATCA	0.567																																							uc002crk.2		NA																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(5014-5016)TCCfs		splicing coactivator subunit SRm300							96.0	79.0	85.0					16																	2815544		2198	4300	6498	SO:0001589	frameshift_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2815544delC	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.5015delC	16.37:g.2815544delC	ENSP00000301740:p.Ser1672fs					SRRM2_uc002crj.1_Frame_Shift_Del_p.S1576fs|SRRM2_uc002crl.1_Frame_Shift_Del_p.S1672fs|SRRM2_uc010bsu.1_Frame_Shift_Del_p.S1576fs	p.S1672fs	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	5564	+			1672			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Del	DEL	ENST00000301740.8	37	c.5015delC	CCDS32373.1																																																																																				0.567	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			15	45	NA	NA	NA	NA	NA	15	45	---	---	---	---
OR7C1	26664	broad.mit.edu	37	19	14910638	14910638	+	Frame_Shift_Del	DEL	A	A	-	rs534928853	byFrequency	TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr19:14910638delA	ENST00000248073.2	-	1	385	c.311delT	c.(310-312)ttcfs	p.F104fs	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	104					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAATGAAGTGAAAAAAAAAAT	0.443													|||unknown(HR)	63	0.0125799	0.0076	0.0043	5008	,	,		21296	0.0109		0.002	False		,,,				2504	0.0378						uc010xnz.1		NA																	0				ovary(2)	2						c.(310-312)TTCfs		olfactory receptor, family 7, subfamily C,				3,45,4216		0,0,3,0,45,2084	59.0	60.0	60.0			2.6	0.1	19		61	16,32,8204		0,0,16,2,28,4080	no	codingComplex	OR7C1	NM_198944.1		0,0,19,2,73,6164	A1A1,A1A2,A1R,A2A2,A2R,RR		0.5817,1.1257,0.767			14910638	19,77,12420	2203	4300	6503	SO:0001589	frameshift_variant	26664				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14910638delA	X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.311delT	19.37:g.14910638delA	ENSP00000248073:p.Phe104fs						p.F104fs	NM_198944	NP_945182	O76099	OR7C1_HUMAN			1	311	-			104			Helical; Name=3; (Potential).		Q15621|Q6IFP2|Q96R94	Frame_Shift_Del	DEL	ENST00000248073.2	37	c.311delT	CCDS12317.1																																																																																				0.443	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1			7	65	NA	NA	NA	NA	NA	7	65	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20920814	20920816	+	In_Frame_Del	DEL	CAG	CAG	-	rs67182670|rs535773989	byFrequency	TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	CAG	CAG	-	-	CAG	CAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr22:20920814_20920816delCAG	ENST00000263205.7	+	7	820_822	c.751_753delCAG	c.(751-753)cagdel	p.Q262del	MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034). {ECO:0000305}.	gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			acaacagcaacagcagcagcagc	0.591																																							uc002zsp.2		NA																	4	Insertion - In frame(4)		ovary(2)|large_intestine(2)	skin(1)	1						c.(751-753)CAGdel		mediator complex subunit 15 isoform a																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20920814_20920816delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.751_753delCAG	22.37:g.20920823_20920825delCAG	ENSP00000263205:p.Gln262del					MED15_uc002zso.2_In_Frame_Del_p.Q191del|MED15_uc002zsq.2_In_Frame_Del_p.Q262del|MED15_uc010gso.2_In_Frame_Del_p.Q262del|MED15_uc002zsr.2_In_Frame_Del_p.Q236del|MED15_uc011ahs.1_In_Frame_Del_p.Q236del|MED15_uc002zss.2_In_Frame_Del_p.Q181del|MED15_uc011ahu.1_5'UTR	p.Q262del	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		7	831_833	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	262	Missing (in Ref. 3; BAB85034).	Missing.	Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.751_753delCAG	CCDS33602.1																																																																																				0.591	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		7	36	NA	NA	NA	NA	NA	7	36	---	---	---	---
ULK4	54986	broad.mit.edu	37	3	41961235	41961235	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr3:41961235delC	ENST00000301831.4	-	6	1079	c.617delG	c.(616-618)ggcfs	p.G206fs	ULK4_ENST00000420927.1_Frame_Shift_Del_p.G206fs	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	206	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AAGCAGACAGCCCAAAGACCA	0.408																																							uc003ckv.3		NA																	0					0						c.(616-618)GGCfs		unc-51-like kinase 4							163.0	159.0	160.0					3																	41961235		1839	4104	5943	SO:0001589	frameshift_variant	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41961235delC	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.617delG	3.37:g.41961235delC	ENSP00000301831:p.Gly206fs					ULK4_uc003ckw.2_Frame_Shift_Del_p.G206fs|ULK4_uc003ckx.1_Frame_Shift_Del_p.G206fs	p.G206fs	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	6	818	-			206			Protein kinase.		A6NF15|Q8IW79|Q9NWV6|Q9UF96	Frame_Shift_Del	DEL	ENST00000301831.4	37	c.617delG	CCDS43071.1																																																																																				0.408	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		36	150	NA	NA	NA	NA	NA	36	150	---	---	---	---
RANBP3L	202151	broad.mit.edu	37	5	36257147	36257147	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr5:36257147delG	ENST00000296604.3	-	10	1284	c.799delC	c.(799-801)ctafs	p.L267fs	RANBP3L_ENST00000502994.1_Frame_Shift_Del_p.L292fs|RANBP3L_ENST00000515759.1_Frame_Shift_Del_p.L267fs	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	267					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			GATTCAATTAGGGAAGTATTT	0.373																																							uc003jkh.2		NA																	0				ovary(1)	1						c.(799-801)CTAfs		RAN binding protein 3-like isoform 2							80.0	76.0	77.0					5																	36257147		2203	4300	6503	SO:0001589	frameshift_variant	202151				intracellular transport			g.chr5:36257147delG	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.799delC	5.37:g.36257147delG	ENSP00000296604:p.Leu267fs					RANBP3L_uc011cow.1_Frame_Shift_Del_p.L292fs	p.L267fs	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		10	1292	-	all_lung(31;4.52e-05)		267					B7Z866|E9PGP9|Q96LK2	Frame_Shift_Del	DEL	ENST00000296604.3	37	c.799delC	CCDS3918.1																																																																																				0.373	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		37	69	NA	NA	NA	NA	NA	37	69	---	---	---	---
GFRAL	389400	broad.mit.edu	37	6	55196612	55196612	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr6:55196612delC	ENST00000340465.2	+	2	208	c.122delC	c.(121-123)gctfs	p.A41fs		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	41					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGTAAACATGCTTGGAGAGTA	0.338																																							uc003pcm.1		NA																	0				ovary(1)|breast(1)	2						c.(121-123)GCTfs		GDNF family receptor alpha like precursor							112.0	101.0	104.0					6																	55196612		2203	4300	6503	SO:0001589	frameshift_variant	389400					integral to membrane	receptor activity	g.chr6:55196612delC	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.122delC	6.37:g.55196612delC	ENSP00000343636:p.Ala41fs						p.A41fs	NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		2	208	+	Lung NSC(77;0.0875)|Renal(3;0.122)		41			Extracellular (Potential).		Q5VTF6	Frame_Shift_Del	DEL	ENST00000340465.2	37	c.122delC	CCDS4957.1																																																																																				0.338	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040995.2	NM_207410		8	37	NA	NA	NA	NA	NA	8	37	---	---	---	---
GNAI1	2770	broad.mit.edu	37	7	79846625	79846626	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:79846625_79846626delAC	ENST00000351004.3	+	8	1254_1255	c.881_882delAC	c.(880-882)aacfs	p.N294fs	GNAI1_ENST00000457358.2_Frame_Shift_Del_p.N242fs	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	294					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|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)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TCAGGATCAAACACATATGAAG	0.337																																							uc003uhb.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(880-882)AACfs		guanine nucleotide binding protein (G protein),																																				SO:0001589	frameshift_variant	2770				cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity	g.chr7:79846625_79846626delAC	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.881_882delAC	7.37:g.79846627_79846628delAC	ENSP00000343027:p.Asn294fs					GNAI1_uc011kgt.1_Frame_Shift_Del_p.N242fs	p.N294fs	NM_002069	NP_002060	P63096	GNAI1_HUMAN			8	1218_1219	+			294					A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Frame_Shift_Del	DEL	ENST00000351004.3	37	c.881_882delAC	CCDS5595.1																																																																																				0.337	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069		11	61	NA	NA	NA	NA	NA	11	61	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103207077	103207078	+	Frame_Shift_Ins	INS	-	-	T			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr7:103207077_103207078insT	ENST00000428762.1	-	32	4876_4877	c.4717_4718insA	c.(4717-4719)acgfs	p.T1573fs	RELN_ENST00000424685.2_Frame_Shift_Ins_p.T1573fs|RELN_ENST00000343529.5_Frame_Shift_Ins_p.T1573fs	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1573					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCGAAATGCCGTTGCAGGTGTC	0.495																																					NSCLC(146;835 1944 15585 22231 52158)	NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(4717-4719)ACGfs		reelin isoform a																																				SO:0001589	frameshift_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103207077_103207078insT		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.4718dupA	7.37:g.103207079_103207079dupT	ENSP00000392423:p.Thr1573fs					RELN_uc010liz.2_Frame_Shift_Ins_p.T1573fs	p.T1573fs	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	32	4877_4878	-			1573					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Frame_Shift_Ins	INS	ENST00000428762.1	37	c.4717_4718insA	CCDS47680.1																																																																																				0.495	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		30	121	NA	NA	NA	NA	NA	30	121	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767611	77767611	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4514-01A-21D-1855-08	TCGA-49-4514-11A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7751af67-1415-475e-8ec5-66d76f515014	54f43611-013c-4984-8038-337f6cf97f19	g.chr8:77767611delG	ENST00000521891.2	+	10	8902	c.8454delG	c.(8452-8454)gagfs	p.E2818fs	ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.E2773fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.E2792fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.E2773fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2773					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.E2802D(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCGGAGACGAGGGAAACACTG	0.483										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8317-8319)GAGfs		zinc finger homeodomain 4							54.0	54.0	54.0					8																	77767611		1956	4152	6108	SO:0001589	frameshift_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767611delG		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8454delG	8.37:g.77767611delG	ENSP00000430497:p.Glu2818fs	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Frame_Shift_Del_p.E2818fs|ZFHX4_uc003yaw.1_Frame_Shift_Del_p.E2773fs	p.E2773fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8706	+			2773					G3V138|Q18PS0|Q6ZN20	Frame_Shift_Del	DEL	ENST00000521891.2	37	c.8319delG	CCDS47878.2																																																																																				0.483	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		9	43	NA	NA	NA	NA	NA	9	43	---	---	---	---
