#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
TNFRSF4	7293	broad.mit.edu	37	1	1148426	1148426	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:1148426C>G	ENST00000379236.3	-	3	320	c.316G>C	c.(316-318)Gtc>Ctc	p.V106L	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	106					cellular defense response (GO:0006968)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of immunoglobulin secretion (GO:0051024)|regulation of apoptotic process (GO:0042981)|regulation of protein kinase activity (GO:0045859)|T cell proliferation (GO:0042098)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	tumor necrosis factor-activated receptor activity (GO:0005031)	p.V106L(1)		large_intestine(1)|lung(2)|urinary_tract(1)	4	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGCGGCAGACTGTGTCCTGT	0.701																																							uc001ade.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(316-318)GTC>CTC		tumor necrosis factor receptor superfamily,							17.0	19.0	18.0					1																	1148426		2191	4286	6477	SO:0001583	missense	7293				immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:1148426C>G	X75962	CCDS11.1	1p36	2008-02-05			ENSG00000186827	ENSG00000186827		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11918	protein-coding gene	gene with protein product		600315		TXGP1L		7510240, 2828930	Standard	NM_003327		Approved	ACT35, OX40, CD134	uc001ade.3	P43489	OTTHUMG00000001415	ENST00000379236.3:c.316G>C	1.37:g.1148426C>G	ENSP00000368538:p.Val106Leu					TNFRSF4_uc001adf.2_Missense_Mutation_p.V110L	p.V106L	NM_003327	NP_003318	P43489	TNR4_HUMAN		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	3	321	-	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	106			TNFR-Cys 2.|Extracellular (Potential).		Q13663|Q2M312|Q5T7M0	Missense_Mutation	SNP	ENST00000379236.3	37	c.316G>C	CCDS11.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	2.640|2.640	-0.284466|-0.284466	0.05605|0.05605	.|.	.|.	ENSG00000186827|ENSG00000186827	ENST00000453580|ENST00000379236	.|D	.|0.93426	.|-3.22	3.69|3.69	-0.513|-0.513	0.11962|0.11962	.|TNFR/CD27/30/40/95 cysteine-rich region (4);	.|0.889457	.|0.09364	.|N	.|0.812279	D|D	0.89455|0.89455	0.6720|0.6720	L|L	0.56396|0.56396	1.775|1.775	0.09310|0.09310	N|N	1|1	.|P;B	.|0.46142	.|0.873;0.002	.|B;B	.|0.40982	.|0.345;0.01	T|T	0.80402|0.80402	-0.1397|-0.1397	5|10	.|0.56958	.|D	.|0.05	-19.4471|-19.4471	4.0824|4.0824	0.09932|0.09932	0.0:0.4067:0.1754:0.4179|0.0:0.4067:0.1754:0.4179	.|.	.|51;106	.|B1AME4;P43489	.|.;TNR4_HUMAN	T|L	51|106	.|ENSP00000368538:V106L	.|ENSP00000368538:V106L	S|V	-|-	2|1	0|0	TNFRSF4|TNFRSF4	1138289|1138289	0.000000|0.000000	0.05858|0.05858	0.014000|0.014000	0.15608|0.15608	0.095000|0.095000	0.18619|0.18619	-0.806000|-0.806000	0.04525|0.04525	-0.194000|-0.194000	0.10399|0.10399	0.472000|0.472000	0.43445|0.43445	AGT|GTC		0.701	TNFRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004086.1			3	27	0	0	0	0.004672	0	3	27				
TAS1R1	80835	broad.mit.edu	37	1	6636489	6636489	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:6636489C>A	ENST00000333172.6	+	4	1468	c.1275C>A	c.(1273-1275)atC>atA	p.I425I	TAS1R1_ENST00000351136.3_Silent_p.I171I|TAS1R1_ENST00000328191.4_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	425					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.I425I(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGGAGCAGATCCACAAGGTGC	0.507																																							uc001ant.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1273-1275)ATC>ATA		sweet taste receptor T1r isoform b							175.0	160.0	165.0					1																	6636489		2203	4300	6503	SO:0001819	synonymous_variant	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6636489C>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1275C>A	1.37:g.6636489C>A						TAS1R1_uc001anu.2_Silent_p.I171I|TAS1R1_uc001anv.2_Silent_p.I171I|TAS1R1_uc001anw.2_Intron	p.I425I	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	4	1275	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	425			Extracellular (Potential).		B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	ENST00000333172.6	37	c.1275C>A	CCDS81.1	.	.	.	.	.	.	.	.	.	.	C	6.689	0.495695	0.12762	.	.	ENSG00000173662	ENST00000415267	.	.	.	5.15	2.14	0.27477	.	.	.	.	.	T	0.45816	0.1361	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.25222	-1.0138	4	.	.	.	.	3.1367	0.06441	0.1428:0.5616:0.1384:0.1572	.	.	.	.	Y	97	.	.	S	+	2	0	TAS1R1	6559076	0.003000	0.15002	0.869000	0.34112	0.836000	0.47400	-0.050000	0.11904	0.148000	0.19059	0.591000	0.81541	TCC		0.507	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			20	195	1	0	0.00121646	0.008871	0.00139378	20	195				
ERRFI1	54206	broad.mit.edu	37	1	8074129	8074129	+	Nonsense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:8074129G>C	ENST00000377482.5	-	4	753	c.530C>G	c.(529-531)tCa>tGa	p.S177*	ERRFI1_ENST00000469499.1_3'UTR|ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000467067.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	177					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)	p.S177*(1)		breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		GTCTGTATCTGAGCTAGTTAG	0.473																																							uc001aoz.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(529-531)TCA>TGA		mitogen-inducible gene 6 protein							73.0	76.0	75.0					1																	8074129		2203	4300	6503	SO:0001587	stop_gained	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8074129G>C	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.530C>G	1.37:g.8074129G>C	ENSP00000366702:p.Ser177*					ERRFI1_uc001apa.1_Nonsense_Mutation_p.S102*	p.S177*	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	779	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	177					B2RDX9|Q9NTG9|Q9UD05	Nonsense_Mutation	SNP	ENST00000377482.5	37	c.530C>G	CCDS94.1	.	.	.	.	.	.	.	.	.	.	G	35	5.597447	0.96602	.	.	ENSG00000116285	ENST00000377482	.	.	.	4.74	4.74	0.60224	.	0.417808	0.23844	N	0.044004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.8125	16.872	0.86042	0.0:0.0:1.0:0.0	.	.	.	.	X	177	.	ENSP00000366702:S177X	S	-	2	0	ERRFI1	7996716	1.000000	0.71417	0.925000	0.36789	0.996000	0.88848	5.669000	0.68081	2.437000	0.82529	0.561000	0.74099	TCA		0.473	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		11	62	0	0	0	0.000978	0	11	62				
SLC45A1	50651	broad.mit.edu	37	1	8390452	8390452	+	Missense_Mutation	SNP	G	G	T	rs368671084		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:8390452G>T	ENST00000471889.1	+	5	1284	c.899G>T	c.(898-900)cGg>cTg	p.R300L	SLC45A1_ENST00000289877.8_Missense_Mutation_p.R300L|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000377479.2_Missense_Mutation_p.R334L			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	300					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.R300L(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGAGAAGCGGGCAGCCATG	0.687																																							uc001apb.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|pancreas(1)|skin(1)	4						c.(898-900)CGG>CTG		DNB5							17.0	20.0	19.0					1																	8390452		2181	4263	6444	SO:0001583	missense	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8390452G>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.899G>T	1.37:g.8390452G>T	ENSP00000418096:p.Arg300Leu					SLC45A1_uc001apc.2_5'UTR	p.R300L	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	4	899	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	300					Q5VY46|Q5VY49	Missense_Mutation	SNP	ENST00000471889.1	37	c.899G>T	CCDS30577.1	.	.	.	.	.	.	.	.	.	.	G	4.205	0.036783	0.08148	.	.	ENSG00000162426	ENST00000471889;ENST00000377479;ENST00000289877	D;D;D	0.82255	-1.59;-1.59;-1.59	4.34	-1.36	0.09085	Major facilitator superfamily domain, general substrate transporter (1);	0.810229	0.11444	N	0.563401	T	0.61702	0.2368	N	0.03608	-0.345	0.23492	N	0.997561	B	0.29212	0.237	B	0.35607	0.206	T	0.54781	-0.8242	10	0.29301	T	0.29	-17.5386	5.4434	0.16521	0.6036:0.1577:0.2386:0.0	.	300	Q9Y2W3	S45A1_HUMAN	L	300;334;300	ENSP00000418096:R300L;ENSP00000366699:R334L;ENSP00000289877:R300L	ENSP00000289877:R300L	R	+	2	0	SLC45A1	8313039	1.000000	0.71417	0.235000	0.24058	0.032000	0.12392	2.425000	0.44723	-0.094000	0.12374	-0.258000	0.10820	CGG		0.687	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			3	16	1	0	0.004672	0.004672	0.00512029	3	16				
RERE	473	broad.mit.edu	37	1	8684419	8684419	+	Missense_Mutation	SNP	G	G	A	rs566026776		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:8684419G>A	ENST00000337907.3	-	4	980	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	RERE_ENST00000400907.2_Missense_Mutation_p.R116W|RERE_ENST00000400908.2_Missense_Mutation_p.R116W	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	116	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R116W(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTTGGCCTCCGACTCTCGATA	0.378													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15892	0.0		0.0	False		,,,				2504	0.0						uc001ape.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(346-348)CGG>TGG		atrophin-1 like protein isoform a							149.0	140.0	143.0					1																	8684419		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8684419G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.346C>T	1.37:g.8684419G>A	ENSP00000338629:p.Arg116Trp					RERE_uc001apf.2_Missense_Mutation_p.R116W|RERE_uc001aph.1_Missense_Mutation_p.R116W	p.R116W	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	4	1156	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	116			BAH.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.346C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877257	0.72294	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	D;D;D	0.85955	-2.05;-2.05;-2.05	5.66	4.75	0.60458	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	T	0.73931	0.3650	N	0.22421	0.69	0.52501	D	0.999959	B	0.29671	0.254	B	0.24006	0.05	T	0.73167	-0.4068	9	0.72032	D	0.01	-21.6055	8.7956	0.34876	0.0752:0.0:0.7754:0.1494	.	116	Q9P2R6	RERE_HUMAN	W	116	ENSP00000338629:R116W;ENSP00000383699:R116W;ENSP00000383700:R116W	ENSP00000338629:R116W	R	-	1	2	RERE	8607006	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.066000	0.76734	1.525000	0.49052	0.650000	0.86243	CGG		0.378	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			7	112	0	0	0	0.00308	0	7	112				
PTCHD2	57540	broad.mit.edu	37	1	11589657	11589657	+	Missense_Mutation	SNP	G	G	A	rs12096312	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:11589657G>A	ENST00000294484.6	+	14	2981	c.2843G>A	c.(2842-2844)cGc>cAc	p.R948H	PTCHD2_ENST00000389575.3_Missense_Mutation_p.R948H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	948			R -> H (in dbSNP:rs12096312).		cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.R1165H(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TTCCACGGGCGCGTATGCATG	0.627																																							uc001ash.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(2842-2844)CGC>CAC		patched domain containing 2							56.0	61.0	59.0					1																	11589657		1989	4148	6137	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11589657G>A	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.2843G>A	1.37:g.11589657G>A	ENSP00000294484:p.Arg948His						p.R948H	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	14	2981	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	948			Extracellular (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.2843G>A	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777072	0.70107	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.92495	-3.04;-3.05	4.82	4.82	0.62117	.	0.075967	0.49305	D	0.000147	D	0.91222	0.7234	L	0.27053	0.805	0.41360	D	0.987429	D	0.76494	0.999	P	0.60609	0.877	D	0.91777	0.5432	10	0.72032	D	0.01	-24.6905	10.5208	0.44918	0.0893:0.0:0.9107:0.0	rs12096312;rs12096312	948	Q9P2K9	PTHD2_HUMAN	H	948	ENSP00000294484:R948H;ENSP00000374226:R948H	ENSP00000294484:R948H	R	+	2	0	PTCHD2	11512244	1.000000	0.71417	0.983000	0.44433	0.415000	0.31203	7.128000	0.77217	2.198000	0.70561	0.561000	0.74099	CGC		0.627	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		7	46	0	0	0	0.001984	0	7	46				
PRAMEF1	65121	broad.mit.edu	37	1	12853572	12853572	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:12853572C>A	ENST00000332296.7	+	2	299	c.196C>A	c.(196-198)Ctg>Atg	p.L66M	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	66					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L66M(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCTCCCTCTGGGATCACT	0.542																																							uc001auj.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(196-198)CTG>ATG		PRAME family member 1							102.0	108.0	106.0					1																	12853572		2203	4297	6500	SO:0001583	missense	65121							g.chr1:12853572C>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.196C>A	1.37:g.12853572C>A	ENSP00000332134:p.Leu66Met						p.L66M	NM_023013	NP_075389	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	299	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	66					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.196C>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	11.50	1.658251	0.29425	.	.	ENSG00000116721	ENST00000332296	T	0.14893	2.47	1.61	1.61	0.23674	.	0.297921	0.28296	N	0.015863	T	0.39306	0.1073	M	0.85945	2.785	0.09310	N	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.04900	-1.0919	10	0.87932	D	0	.	6.7379	0.23419	0.0:1.0:0.0:0.0	.	66	O95521	PRAM1_HUMAN	M	66	ENSP00000332134:L66M	ENSP00000332134:L66M	L	+	1	2	PRAMEF1	12776159	0.002000	0.14202	0.005000	0.12908	0.015000	0.08874	0.124000	0.15728	1.215000	0.43411	0.537000	0.68136	CTG		0.542	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		23	91	1	0	7.07758e-08	0.004656	9.98786e-08	23	91				
TAS1R2	80834	broad.mit.edu	37	1	19167002	19167002	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:19167002G>T	ENST00000375371.3	-	6	1632	c.1611C>A	c.(1609-1611)gcC>gcA	p.A537A		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	537					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.A537A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	TATTCGGGCAGGCCTGGCATT	0.592																																							uc001bba.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1609-1611)GCC>GCA		taste receptor, type 1, member 2 precursor	Aspartame(DB00168)						47.0	50.0	49.0					1																	19167002		2203	4299	6502	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19167002G>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1611C>A	1.37:g.19167002G>T							p.A537A	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	1612	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	537			Extracellular (Potential).		Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.1611C>A	CCDS187.1																																																																																				0.592	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			4	34	1	0	0.00024832	0.009096	0.000299541	4	34				
UBR4	23352	broad.mit.edu	37	1	19478267	19478267	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:19478267T>C	ENST00000375254.3	-	48	7110	c.7083A>G	c.(7081-7083)atA>atG	p.I2361M	UBR4_ENST00000375217.2_Missense_Mutation_p.I2361M|UBR4_ENST00000375267.2_Missense_Mutation_p.I2361M|UBR4_ENST00000375226.2_Missense_Mutation_p.I2361M	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2361					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I2361M(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGGCCCGTTCTATTGCTTGAG	0.512																																							uc001bbi.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(7081-7083)ATA>ATG		retinoblastoma-associated factor 600							185.0	172.0	177.0					1																	19478267		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19478267T>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.7083A>G	1.37:g.19478267T>C	ENSP00000364403:p.Ile2361Met					UBR4_uc001bbk.1_Missense_Mutation_p.I15M|UBR4_uc001bbl.1_Missense_Mutation_p.I298M|UBR4_uc001bbm.1_Missense_Mutation_p.I1573M	p.I2361M	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	48	7087	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	2361					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.7083A>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336646	0.60963	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59	5.14	-4.63	0.03359	.	0.118422	0.56097	D	0.000036	T	0.10035	0.0246	L	0.39898	1.24	0.80722	D	1	P;B	0.48503	0.911;0.435	B;B	0.42386	0.386;0.221	T	0.04467	-1.0949	10	0.66056	D	0.02	.	9.9958	0.41898	0.2059:0.0:0.5778:0.2164	.	2362;2361	Q5T4S7-5;Q5T4S7	.;UBR4_HUMAN	M	2361;2361;2361;2361;1071;1578	ENSP00000364403:I2361M;ENSP00000364416:I2361M;ENSP00000364365:I2361M;ENSP00000364374:I2361M;ENSP00000404897:I1071M	ENSP00000364365:I2361M	I	-	3	3	UBR4	19350854	0.008000	0.16893	0.946000	0.38457	0.950000	0.60333	-0.956000	0.03865	-0.741000	0.04797	-0.527000	0.04329	ATA		0.512	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		12	50	0	0	0	0.000978	0	12	50				
UBXN10	127733	broad.mit.edu	37	1	20517691	20517691	+	Missense_Mutation	SNP	C	C	A	rs200479622	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:20517691C>A	ENST00000375099.3	+	2	721	c.637C>A	c.(637-639)Cgc>Agc	p.R213S		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	213	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.							p.R213S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						AAGGTTTGTACGCCATTTCCG	0.493																																							uc001bdb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(637-639)CGC>AGC		UBX domain protein 10							114.0	109.0	111.0					1																	20517691		2203	4300	6503	SO:0001583	missense	127733							g.chr1:20517691C>A	AK058158	CCDS205.1	1p36.13	2008-07-25	2008-07-25	2008-07-25	ENSG00000162543	ENSG00000162543		"""UBX domain containing"""	26354	protein-coding gene	gene with protein product			"""UBX domain containing 3"""	UBXD3		12477932	Standard	NM_152376		Approved	FLJ25429	uc001bdb.3	Q96LJ8	OTTHUMG00000002708	ENST00000375099.3:c.637C>A	1.37:g.20517691C>A	ENSP00000364240:p.Arg213Ser						p.R213S	NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN			2	721	+			213			UBX.		Q5R386	Missense_Mutation	SNP	ENST00000375099.3	37	c.637C>A	CCDS205.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109791	0.77096	.	.	ENSG00000162543	ENST00000375099	.	.	.	4.92	4.92	0.64577	UBX (3);	0.292616	0.27631	N	0.018501	T	0.63331	0.2502	M	0.70275	2.135	0.25917	N	0.983169	D	0.58268	0.982	P	0.56474	0.799	T	0.60581	-0.7235	9	0.72032	D	0.01	-7.1303	16.8349	0.85954	0.0:1.0:0.0:0.0	.	213	Q96LJ8	UBX10_HUMAN	S	213	.	ENSP00000364240:R213S	R	+	1	0	UBXN10	20390278	0.368000	0.25031	0.010000	0.14722	0.981000	0.71138	5.090000	0.64498	2.543000	0.85770	0.591000	0.81541	CGC		0.493	UBXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007693.1	NM_152376		7	56	1	0	0.00198382	0.001984	0.00223792	7	56				
SERINC2	347735	broad.mit.edu	37	1	31898241	31898241	+	Missense_Mutation	SNP	G	G	T	rs371327989		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:31898241G>T	ENST00000373709.3	+	4	607	c.457G>T	c.(457-459)Ggc>Tgc	p.G153C	SERINC2_ENST00000373710.1_Missense_Mutation_p.G162C|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Missense_Mutation_p.G157C|SERINC2_ENST00000536384.1_Missense_Mutation_p.G157C	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	153					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)	p.G153C(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CATTCCTGACGGCTCCTTCAC	0.592																																							uc010ogh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(469-471)GGC>TGC		tumor differentially expressed 2-like		G	CYS/GLY,CYS/GLY,CYS/GLY,CYS/GLY,CYS/GLY	1,4405	2.1+/-5.4	0,1,2202	125.0	106.0	112.0		469,484,292,469,457	4.1	1.0	1		112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	SERINC2	NM_001199037.1,NM_001199038.1,NM_001199039.1,NM_018565.3,NM_178865.4	159,159,159,159,159	0,2,6501	TT,TG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	157/460,162/465,98/401,157/460,153/456	31898241	2,13004	2203	4300	6503	SO:0001583	missense	347735					integral to membrane		g.chr1:31898241G>T	AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.457G>T	1.37:g.31898241G>T	ENSP00000362813:p.Gly153Cys					SERINC2_uc010ogg.1_Missense_Mutation_p.G154C|SERINC2_uc009vtw.1_Intron|SERINC2_uc001bst.2_Missense_Mutation_p.G153C|SERINC2_uc001bsu.2_Missense_Mutation_p.G98C|SERINC2_uc001bsv.2_Missense_Mutation_p.G98C	p.G157C	NM_178865	NP_849196	Q96SA4	SERC2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)	4	670	+		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)	153					A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	ENST00000373709.3	37	c.469G>T	CCDS30662.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.072626	0.55646	2.27E-4	1.16E-4	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	4.08	4.08	0.47627	.	0.000000	0.85682	D	0.000000	T	0.40815	0.1132	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.992	T	0.35599	-0.9782	10	0.87932	D	0	-42.1372	7.0898	0.25277	0.0936:0.0:0.7326:0.1738	.	157;162;153	B4DJK5;E7EUZ9;Q96SA4	.;.;SERC2_HUMAN	C	162;157;153;157	ENSP00000362814:G162C;ENSP00000444307:G157C;ENSP00000362813:G153C;ENSP00000439048:G157C	ENSP00000362813:G153C	G	+	1	0	SERINC2	31670828	1.000000	0.71417	0.984000	0.44739	0.668000	0.39293	7.161000	0.77505	2.287000	0.76781	0.491000	0.48974	GGC		0.592	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010680.1	NM_018565		10	37	1	0	2.32078e-09	0.003163	3.49073e-09	10	37				
RBBP4	5928	broad.mit.edu	37	1	33133872	33133872	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:33133872C>A	ENST00000373493.5	+	4	516	c.357C>A	c.(355-357)atC>atA	p.I119I	RBBP4_ENST00000544435.1_Intron|RBBP4_ENST00000373485.1_Silent_p.I119I|RBBP4_ENST00000458695.2_Silent_p.I84I|RBBP4_ENST00000414241.3_Silent_p.I118I|RBBP4_ENST00000524393.1_Intron	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	119					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)	p.I119I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AAATAGAAATCAAGATCAACC	0.378																																							uc001bvr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(355-357)ATC>ATA		retinoblastoma binding protein 4 isoform a							78.0	69.0	72.0					1																	33133872		2203	4297	6500	SO:0001819	synonymous_variant	5928				cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding	g.chr1:33133872C>A	BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.357C>A	1.37:g.33133872C>A						RBBP4_uc001bvs.2_Silent_p.I118I|RBBP4_uc010ohj.1_Intron|RBBP4_uc010ohk.1_Silent_p.I84I	p.I119I	NM_005610	NP_005601	Q09028	RBBP4_HUMAN			4	516	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	119					B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Silent	SNP	ENST00000373493.5	37	c.357C>A	CCDS366.1																																																																																				0.378	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021957.3	NM_005610		7	35	1	0	0.00198382	0.001984	0.00223792	7	35				
CSMD2	114784	broad.mit.edu	37	1	34174722	34174722	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:34174722C>A	ENST00000373380.1	-	1	382	c.162G>T	c.(160-162)agG>agT	p.R54S	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.R1181S			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1141	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1141S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTTCGAATGCCCTGGCTTTCA	0.438																																							uc001bxn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(3421-3423)AGG>AGT		CUB and Sushi multiple domains 2							131.0	124.0	127.0					1																	34174722		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34174722C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.162G>T	1.37:g.34174722C>A	ENSP00000362478:p.Arg54Ser					CSMD2_uc001bxm.1_Missense_Mutation_p.R1181S|CSMD2_uc001bxo.1_Missense_Mutation_p.R54S	p.R1141S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			22	3452	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1141			Extracellular (Potential).|CUB 7.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37	c.3423G>T		.	.	.	.	.	.	.	.	.	.	C	15.10	2.733626	0.48939	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.17213	2.29;2.29	5.49	4.58	0.56647	CUB (5);	0.258007	0.36815	N	0.002392	T	0.13670	0.0331	N	0.21282	0.65	0.80722	D	1	B;B;B	0.30211	0.079;0.273;0.028	B;B;B	0.36922	0.236;0.142;0.039	T	0.12477	-1.0546	10	0.37606	T	0.19	.	9.4869	0.38935	0.0:0.8412:0.0:0.1588	.	54;1141;1181	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	S	1181;54	ENSP00000362479:R1181S;ENSP00000362478:R54S	ENSP00000241312:R1141S	R	-	3	2	CSMD2	33947309	0.918000	0.31147	0.820000	0.32676	0.996000	0.88848	0.054000	0.14205	1.335000	0.45486	0.561000	0.74099	AGG		0.438	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896		12	81	1	0	5.50884e-06	0.001368	7.30846e-06	12	81				
THRAP3	9967	broad.mit.edu	37	1	36759490	36759490	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:36759490G>A	ENST00000354618.5	+	8	2293	c.2069G>A	c.(2068-2070)gGt>gAt	p.G690D	THRAP3_ENST00000466743.1_3'UTR|THRAP3_ENST00000469141.2_Missense_Mutation_p.G690D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	690	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.G690D(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGAAAACATGGTTTGGCTCAT	0.368			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	Pancreas(129;785 1795 20938 23278 32581)	uc001cae.3		NA		Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|breast(1)	9						c.(2068-2070)GGT>GAT		thyroid hormone receptor associated protein 3							131.0	125.0	127.0					1																	36759490		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36759490G>A	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2069G>A	1.37:g.36759490G>A	ENSP00000346634:p.Gly690Asp					THRAP3_uc001caf.3_Missense_Mutation_p.G690D	p.G690D	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN			8	2293	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	690					D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.2069G>A	CCDS405.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998935	0.74818	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.15017	2.46;2.46	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.39682	0.1087	L	0.57536	1.79	0.49915	D	0.999834	D	0.65815	0.995	D	0.68483	0.958	T	0.01298	-1.1392	10	0.44086	T	0.13	-11.8565	19.112	0.93319	0.0:0.0:1.0:0.0	.	690	Q9Y2W1	TR150_HUMAN	D	690	ENSP00000346634:G690D;ENSP00000433825:G690D	ENSP00000346634:G690D	G	+	2	0	THRAP3	36532077	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.936000	0.75892	2.823000	0.97156	0.591000	0.81541	GGT		0.368	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	NM_005119		5	180	0	0	0	0.001168	0	5	180				
NT5C1A	84618	broad.mit.edu	37	1	40131791	40131791	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:40131791C>A	ENST00000235628.1	-	2	252	c.253G>T	c.(253-255)Gaa>Taa	p.E85*		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	85					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.E85*(1)		breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCTCATGTTCCAGCTGGTAG	0.577																																							uc001cdq.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(253-255)GAA>TAA		5'-nucleotidase, cytosolic IA							132.0	97.0	109.0					1																	40131791		2203	4300	6503	SO:0001587	stop_gained	84618				purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr1:40131791C>A	AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.253G>T	1.37:g.40131791C>A	ENSP00000235628:p.Glu85*						p.E85*	NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		2	253	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	85					Q3SYB9|Q5TG98|Q9BWT8	Nonsense_Mutation	SNP	ENST00000235628.1	37	c.253G>T	CCDS440.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545754	0.86022	.	.	ENSG00000116981	ENST00000235628	.	.	.	4.56	0.267	0.15622	.	0.356015	0.31092	N	0.008278	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-7.7472	10.3554	0.43960	0.0:0.5472:0.3816:0.0712	.	.	.	.	X	85	.	ENSP00000235628:E85X	E	-	1	0	NT5C1A	39904378	1.000000	0.71417	0.974000	0.42286	0.992000	0.81027	3.361000	0.52306	-0.134000	0.11516	-0.182000	0.12963	GAA		0.577	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526		7	43	1	0	8.12818e-05	0.001984	0.000100707	7	43				
ZCCHC11	23318	broad.mit.edu	37	1	52901131	52901131	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:52901131T>A	ENST00000371544.3	-	27	4428	c.4166A>T	c.(4165-4167)cAg>cTg	p.Q1389L	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.Q1390L	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1389					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.Q1390L(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCGGACCAGCTGGGCTGCTAA	0.418																																							uc001ctx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(4165-4167)CAG>CTG		zinc finger, CCHC domain containing 11 isoform							81.0	71.0	74.0					1																	52901131		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52901131T>A	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4166A>T	1.37:g.52901131T>A	ENSP00000360599:p.Gln1389Leu					ZCCHC11_uc001cty.2_Missense_Mutation_p.Q1390L|ZCCHC11_uc001ctz.2_Missense_Mutation_p.Q1385L|ZCCHC11_uc001cua.1_Missense_Mutation_p.Q307L	p.Q1389L	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			27	4400	-			1389					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.4166A>T	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.884573	0.72410	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000531722	T;T	0.49139	0.79;0.79	5.1	3.94	0.45596	.	0.288191	0.32719	N	0.005730	T	0.49184	0.1542	L	0.27053	0.805	0.80722	D	1	D	0.65815	0.995	P	0.61328	0.887	T	0.41161	-0.9524	10	0.40728	T	0.16	.	10.4214	0.44352	0.0:0.0:0.164:0.836	.	1389	Q5TAX3	TUT4_HUMAN	L	1390;1389;227	ENSP00000257177:Q1390L;ENSP00000360599:Q1389L	ENSP00000257177:Q1390L	Q	-	2	0	ZCCHC11	52673719	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.168000	0.71908	0.760000	0.33108	0.383000	0.25322	CAG		0.418	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		9	36	0	0	0	0.006214	0	9	36				
LEPR	3953	broad.mit.edu	37	1	66075681	66075681	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:66075681G>T	ENST00000349533.6	+	13	1989	c.1804G>T	c.(1804-1806)Gac>Tac	p.D602Y	LEPR_ENST00000344610.8_Missense_Mutation_p.D602Y|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371060.3_Missense_Mutation_p.D602Y|LEPR_ENST00000371059.3_Missense_Mutation_p.D602Y|LEPR_ENST00000371058.1_Missense_Mutation_p.D602Y	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.D602Y(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		CCCAGTTCCAGACTTGTGTGC	0.408																																							uc001dci.2		NA																	3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(1804-1806)GAC>TAC		leptin receptor isoform 1							187.0	181.0	183.0					1																	66075681		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66075681G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1804G>T	1.37:g.66075681G>T	ENSP00000330393:p.Asp602Tyr					LEPR_uc001dcg.2_Missense_Mutation_p.D602Y|LEPR_uc001dch.2_Missense_Mutation_p.D602Y|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.D602Y|LEPR_uc001dck.2_Missense_Mutation_p.D602Y	p.D602Y	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	13	2006	+			602			Extracellular (Potential).|Fibronectin type-III 2.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.1804G>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771919	0.49680	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.49	5.49	0.81192	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.298946	0.39834	N	0.001245	T	0.67748	0.2926	M	0.70903	2.155	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.76575	0.94;0.973;0.988	T	0.70761	-0.4784	10	0.72032	D	0.01	-7.3092	18.1383	0.89630	0.0:0.0:1.0:0.0	.	602;602;602	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	Y	602	ENSP00000340884:D602Y;ENSP00000330393:D602Y;ENSP00000360099:D602Y;ENSP00000360098:D602Y;ENSP00000360097:D602Y	ENSP00000340884:D602Y	D	+	1	0	LEPR	65848269	0.997000	0.39634	1.000000	0.80357	0.028000	0.11728	2.593000	0.46180	2.564000	0.86499	0.650000	0.86243	GAC		0.408	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		53	148	1	0	6.3091e-27	0.00361	1.14725e-26	53	148				
GNG12	55970	broad.mit.edu	37	1	68173365	68173365	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:68173365G>A	ENST00000370982.3	-	3	204	c.5C>T	c.(4-6)tCc>tTc	p.S2F		NM_018841.5	NP_061329.3	Q9UBI6	GBG12_HUMAN	guanine nucleotide binding protein (G protein), gamma 12	2					cellular response to glucagon stimulus (GO:0071377)|cerebral cortex development (GO:0021987)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)	p.S2F(1)		lung(3)	3						TGTTTTGCTGGACATCTTCAA	0.348																																							uc001dea.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(4-6)TCC>TTC		G-protein gamma-12 subunit precursor							232.0	229.0	230.0					1																	68173365		2203	4300	6503	SO:0001583	missense	55970				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity	g.chr1:68173365G>A	AF119663	CCDS30749.1	1p31.2	2008-02-05			ENSG00000172380	ENSG00000172380			19663	protein-coding gene	gene with protein product		615405				10819326	Standard	NM_018841		Approved		uc001dea.2	Q9UBI6	OTTHUMG00000009545	ENST00000370982.3:c.5C>T	1.37:g.68173365G>A	ENSP00000360021:p.Ser2Phe						p.S2F	NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN			3	197	-			2					Q69YP5|Q9BRV5	Missense_Mutation	SNP	ENST00000370982.3	37	c.5C>T	CCDS30749.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.724905	0.68959	.	.	ENSG00000172380	ENST00000370982	T	0.52295	0.67	5.97	5.97	0.96955	G-protein gamma domain (1);	0.126812	0.53938	D	0.000044	T	0.31104	0.0786	.	.	.	0.80722	D	1	P	0.40476	0.718	B	0.34242	0.178	T	0.32375	-0.9909	9	0.72032	D	0.01	6.9116	17.3508	0.87323	0.0:0.0:1.0:0.0	.	2	Q9UBI6	GBG12_HUMAN	F	2	ENSP00000360021:S2F	ENSP00000360021:S2F	S	-	2	0	GNG12	67945953	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.771000	0.85420	2.838000	0.97847	0.561000	0.74099	TCC		0.348	GNG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026355.2			35	237	0	0	0	0.003755	0	35	237				
WLS	79971	broad.mit.edu	37	1	68659674	68659674	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:68659674G>T	ENST00000262348.4	-	2	596	c.343C>A	c.(343-345)Cag>Aag	p.Q115K	WLS_ENST00000354777.2_Missense_Mutation_p.Q113K|WLS_ENST00000540432.1_Missense_Mutation_p.Q115K|WLS_ENST00000370976.3_Intron|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000370971.1_Missense_Mutation_p.Q115K|GNG12-AS1_ENST00000413628.1_RNA	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	115	Interacts with Wnt proteins. {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.Q113K(1)|p.Q115K(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						ATGTCCAGCTGCAGGATAAAC	0.448																																							uc001def.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(343-345)CAG>AAG		G protein-coupled receptor 177 isoform 1							164.0	137.0	146.0					1																	68659674		2203	4300	6503	SO:0001583	missense	79971				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	g.chr1:68659674G>T	BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"""wntless homolog"""	611514	"""chromosome 1 open reading frame 139"", ""G protein-coupled receptor 177"", ""wntless homolog (Drosophila)"""	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.343C>A	1.37:g.68659674G>T	ENSP00000262348:p.Gln115Lys					uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Missense_Mutation_p.Q113K|WLS_uc001deg.1_Intron|WLS_uc001deh.1_Missense_Mutation_p.Q115K|WLS_uc009wbf.1_Missense_Mutation_p.Q70K	p.Q115K	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN			2	614	-			115			Lumenal (Potential).|Interacts with Wnt proteins (By similarity).		B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	ENST00000262348.4	37	c.343C>A	CCDS642.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576317	0.65878	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000530486;ENST00000471243;ENST00000370971	T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54	5.27	5.27	0.74061	.	0.106963	0.64402	D	0.000003	T	0.28400	0.0702	M	0.75777	2.31	0.80722	D	1	B;B;B;B	0.33883	0.174;0.43;0.049;0.174	B;B;B;B	0.33960	0.069;0.173;0.026;0.069	T	0.17806	-1.0357	10	0.56958	D	0.05	-13.3376	19.2333	0.93849	0.0:0.0:1.0:0.0	.	115;115;115;113	F5H4K0;Q7Z430;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	K	115;113;115;70;70;115	ENSP00000446112:Q115K;ENSP00000346829:Q113K;ENSP00000262348:Q115K;ENSP00000433111:Q70K;ENSP00000436196:Q70K;ENSP00000360010:Q115K	ENSP00000262348:Q115K	Q	-	1	0	WLS	68432262	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.818000	0.86416	2.615000	0.88500	0.655000	0.94253	CAG		0.448	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025368.1	NM_024911		8	68	1	0	2.17888e-05	0.006214	2.81406e-05	8	68				
PTGER3	5733	broad.mit.edu	37	1	71512593	71512593	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:71512593T>C	ENST00000306666.5	-	1	878	c.668A>G	c.(667-669)cAt>cGt	p.H223R	PTGER3_ENST00000370932.2_Missense_Mutation_p.H223R|PTGER3_ENST00000370931.3_Missense_Mutation_p.H223R|PTGER3_ENST00000351052.5_Missense_Mutation_p.H223R|PTGER3_ENST00000370924.4_Missense_Mutation_p.H223R|PTGER3_ENST00000356595.4_Missense_Mutation_p.H223R|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000414819.1_Missense_Mutation_p.H223R|PTGER3_ENST00000354608.5_Missense_Mutation_p.H223R|PTGER3_ENST00000460330.1_Missense_Mutation_p.H223R	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	223					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)	p.H223R(5)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GCCCCAGTTATGCGAAGAGCT	0.632																																							uc001dfg.1		NA																	5	Substitution - Missense(5)		lung(5)	pancreas(1)|lung(1)|skin(1)	3						c.(667-669)CAT>CGT		prostaglandin E receptor 3, subtype EP3 isoform	Bimatoprost(DB00905)						107.0	104.0	105.0					1																	71512593		2203	4300	6503	SO:0001583	missense	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71512593T>C	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.668A>G	1.37:g.71512593T>C	ENSP00000302313:p.His223Arg					PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.H223R|PTGER3_uc001dfl.1_Missense_Mutation_p.H223R|PTGER3_uc009wbm.1_Missense_Mutation_p.H223R|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.H223R|PTGER3_uc009wbn.1_Missense_Mutation_p.H223R|PTGER3_uc009wbo.2_Missense_Mutation_p.H223R|PTGER3_uc001dfo.2_Missense_Mutation_p.H223R|PTGER3_uc001dfp.1_Missense_Mutation_p.H223R|PTGER3_uc001dfq.2_Missense_Mutation_p.H223R|uc001dfr.2_RNA	p.H223R	NM_198714	NP_942007	P43115	PE2R3_HUMAN			1	899	-			223			Extracellular (Potential).		B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	c.668A>G	CCDS657.1	.	.	.	.	.	.	.	.	.	.	T	2.431	-0.330942	0.05314	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	4.77	1.08	0.20341	GPCR, rhodopsin-like superfamily (1);	0.781386	0.11259	N	0.582751	T	0.03095	0.0091	N	0.02247	-0.625	0.09310	N	1	B;B;B;B;B;B;B;B	0.09022	0.001;0.0;0.0;0.002;0.002;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.09377	0.003;0.0;0.002;0.004;0.004;0.0;0.0;0.0	T	0.45145	-0.9281	10	0.10377	T	0.69	-1.8384	3.9754	0.09472	0.0:0.2931:0.1825:0.5244	.	223;223;223;223;223;223;223;223	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	R	223	ENSP00000359969:H223R;ENSP00000359970:H223R;ENSP00000280208:H223R;ENSP00000418073:H223R;ENSP00000346624:H223R;ENSP00000349003:H223R;ENSP00000401423:H223R;ENSP00000302313:H223R;ENSP00000359962:H223R	ENSP00000302313:H223R	H	-	2	0	PTGER3	71285181	0.000000	0.05858	0.001000	0.08648	0.951000	0.60555	0.236000	0.17967	0.083000	0.17047	0.379000	0.24179	CAT		0.632	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		8	93	0	0	0	0.008291	0	8	93				
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74801830	74801830	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:74801830G>C	ENST00000370899.3	+	9	1019	c.982G>C	c.(982-984)Gat>Cat	p.D328H	FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.D341H|TNNI3K_ENST00000326637.3_Missense_Mutation_p.D227H|TNNI3K_ENST00000370891.2_Missense_Mutation_p.D328H|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.D328H	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.D227H(1)									CAGCAAAGCAGATGGTAAGAT	0.348																																							uc001dgf.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(679-681)GAT>CAT		TNNI3 interacting kinase isoform b							75.0	71.0	72.0					1																	74801830		2203	4300	6503	SO:0001583	missense	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74801830G>C			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.982G>C	1.37:g.74801830G>C	ENSP00000359936:p.Asp328His					TNNI3K_uc001dgc.1_Missense_Mutation_p.D328H|TNNI3K_uc001dgd.2_Missense_Mutation_p.D328H|TNNI3K_uc001dge.1_Missense_Mutation_p.D328H	p.D227H	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			7	730	+			227			ANK 5.			Missense_Mutation	SNP	ENST00000370899.3	37	c.679G>C		.	.	.	.	.	.	.	.	.	.	G	21.1	4.099342	0.76983	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.71579	-0.39;-0.39;-0.58;-0.58;-0.39	5.13	5.13	0.70059	Ankyrin repeat-containing domain (4);	0.113493	0.64402	D	0.000017	D	0.82495	0.5049	M	0.81942	2.565	0.54753	D	0.999986	D;D;D;D	0.69078	0.997;0.995;0.995;0.976	D;P;P;P	0.67231	0.95;0.8;0.8;0.664	D	0.84565	0.0652	10	0.87932	D	0	.	18.768	0.91880	0.0:0.0:1.0:0.0	.	227;328;328;328	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	H	328;328;328;328;227	ENSP00000359936:D328H;ENSP00000359932:D328H;ENSP00000450895:D328H;ENSP00000359928:D328H;ENSP00000322251:D227H	ENSP00000322251:D227H	D	+	1	0	RP11-653A5.2;AC093158.1	74574418	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.033000	0.76504	2.669000	0.90835	0.585000	0.79938	GAT		0.348	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			8	35	0	0	0	0.00308	0	8	35				
ERICH3	127254	broad.mit.edu	37	1	75037607	75037607	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:75037607C>T	ENST00000326665.5	-	14	4005	c.3787G>A	c.(3787-3789)Gga>Aga	p.G1263R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1263	Glu-rich.							p.G1263R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACATCCACTCCTCCTTGCCCT	0.592																																							uc001dgg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3787-3789)GGA>AGA		hypothetical protein LOC127254							140.0	122.0	128.0					1																	75037607		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75037607C>T																												ENST00000326665.5:c.3787G>A	1.37:g.75037607C>T	ENSP00000322609:p.Gly1263Arg						p.G1263R	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4006	-			1263			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3787G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024993	0.35701	.	.	ENSG00000178965	ENST00000326665	T	0.10382	2.88	4.65	0.39	0.16275	.	.	.	.	.	T	0.02156	0.0067	L	0.40543	1.245	0.09310	N	1	B	0.20550	0.046	B	0.17722	0.019	T	0.46748	-0.9169	9	0.31617	T	0.26	0.0108	2.4222	0.04451	0.1531:0.5217:0.1487:0.1765	.	1263	Q5RHP9	CA173_HUMAN	R	1263	ENSP00000322609:G1263R	ENSP00000322609:G1263R	G	-	1	0	C1orf173	74810195	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.246000	0.18160	-0.210000	0.10140	-0.258000	0.10820	GGA		0.592	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			13	122	0	0	0	0.001855	0	13	122				
ERICH3	127254	broad.mit.edu	37	1	75038256	75038256	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:75038256C>G	ENST00000326665.5	-	14	3356	c.3138G>C	c.(3136-3138)agG>agC	p.R1046S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1046	Glu-rich.							p.R1046S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAATTTCTTTCCTATCATCTT	0.453																																							uc001dgg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3136-3138)AGG>AGC		hypothetical protein LOC127254							158.0	165.0	163.0					1																	75038256		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038256C>G																												ENST00000326665.5:c.3138G>C	1.37:g.75038256C>G	ENSP00000322609:p.Arg1046Ser						p.R1046S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3357	-			1046			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3138G>C	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312955	0.23908	.	.	ENSG00000178965	ENST00000326665	T	0.12255	2.7	5.0	0.753	0.18404	.	.	.	.	.	T	0.01940	0.0061	N	0.22421	0.69	0.09310	N	1	B	0.26809	0.16	B	0.28232	0.087	T	0.47195	-0.9136	9	0.09084	T	0.74	-8.734	4.4871	0.11796	0.1271:0.5982:0.1237:0.151	.	1046	Q5RHP9	CA173_HUMAN	S	1046	ENSP00000322609:R1046S	ENSP00000322609:R1046S	R	-	3	2	C1orf173	74810844	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.766000	0.04725	0.523000	0.28482	-0.225000	0.12378	AGG		0.453	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			31	165	0	0	0	0.002096	0	31	165				
ERICH3	127254	broad.mit.edu	37	1	75039035	75039035	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:75039035C>T	ENST00000326665.5	-	14	2577	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		787	Glu-rich.							p.D787N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGTACTATGTCAGCATCTCTG	0.522																																							uc001dgg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(2359-2361)GAC>AAC		hypothetical protein LOC127254							106.0	106.0	106.0					1																	75039035		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75039035C>T																												ENST00000326665.5:c.2359G>A	1.37:g.75039035C>T	ENSP00000322609:p.Asp787Asn						p.D787N	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	2578	-			787			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2359G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664389	0.67700	.	.	ENSG00000178965	ENST00000326665	T	0.14640	2.49	5.54	4.62	0.57501	.	.	.	.	.	T	0.13500	0.0327	L	0.36672	1.1	0.80722	D	1	D	0.63880	0.993	P	0.59424	0.857	T	0.03493	-1.1031	9	0.28530	T	0.3	-7.8998	13.7793	0.63073	0.0:0.9231:0.0:0.0769	.	787	Q5RHP9	CA173_HUMAN	N	787	ENSP00000322609:D787N	ENSP00000322609:D787N	D	-	1	0	C1orf173	74811623	0.000000	0.05858	0.048000	0.18961	0.003000	0.03518	0.680000	0.25306	2.620000	0.88729	0.561000	0.74099	GAC		0.522	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			17	97	0	0	0	0.004007	0	17	97				
TYW3	127253	broad.mit.edu	37	1	75204454	75204454	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:75204454G>A	ENST00000370867.3	+	3	425	c.336G>A	c.(334-336)ttG>ttA	p.L112L	TYW3_ENST00000479111.1_5'UTR|TYW3_ENST00000457880.2_Intron|TYW3_ENST00000421739.2_Intron	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	112					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)	p.L112L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GTCGACAATTGCAGGATGCAC	0.328																																							uc001dgn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(334-336)TTG>TTA		tRNA-yW synthesizing protein 3 homolog isoform							112.0	109.0	110.0					1																	75204454		2203	4300	6503	SO:0001819	synonymous_variant	127253				tRNA processing		methyltransferase activity	g.chr1:75204454G>A	BX647591	CCDS666.1, CCDS53334.1	1p31.1	2008-02-05	2006-05-25	2006-05-25	ENSG00000162623	ENSG00000162623			24757	protein-coding gene	gene with protein product		611245	"""chromosome 1 open reading frame 171"""	C1orf171		17150819	Standard	NM_138467		Approved	FLJ40918	uc001dgn.3	Q6IPR3	OTTHUMG00000009641	ENST00000370867.3:c.336G>A	1.37:g.75204454G>A						TYW3_uc010oqw.1_Intron|TYW3_uc010oqx.1_Intron|TYW3_uc010oqy.1_RNA	p.L112L	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN			3	425	+			112					B4DSP9|E9PGR7|Q5HYJ0|Q8N7L1	Silent	SNP	ENST00000370867.3	37	c.336G>A	CCDS666.1																																																																																				0.328	TYW3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026573.1	NM_138467		5	42	0	0	0	0.000602	0	5	42				
LPHN2	23266	broad.mit.edu	37	1	82456781	82456781	+	Silent	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:82456781A>T	ENST00000370728.1	+	25	4977	c.4332A>T	c.(4330-4332)ccA>ccT	p.P1444P	LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000394879.1_Silent_p.P1446P|LPHN2_ENST00000370725.1_Silent_p.P1459P|LPHN2_ENST00000335786.5_Silent_p.P1401P|LPHN2_ENST00000370723.1_Silent_p.P1446P|LPHN2_ENST00000370727.1_Silent_p.P1416P|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000359929.3_Silent_p.P1388P|LPHN2_ENST00000319517.6_Silent_p.P1388P|LPHN2_ENST00000370721.1_Silent_p.P1369P|LPHN2_ENST00000370717.2_Silent_p.P1459P|LPHN2_ENST00000271029.4_Silent_p.P1416P|LPHN2_ENST00000370730.1_Silent_p.P1401P			O95490	LPHN2_HUMAN	latrophilin 2	1444					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.P1459P(1)|p.P1388P(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ggtgtattccagAAGGAGATG	0.413																																							uc001dit.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(4162-4164)CCA>CCT		latrophilin 2 precursor							32.0	34.0	33.0					1																	82456781		2199	4294	6493	SO:0001819	synonymous_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82456781A>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.4332A>T	1.37:g.82456781A>T						LPHN2_uc001dis.2_Silent_p.P368P|LPHN2_uc001diu.2_Silent_p.P1388P|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Silent_p.P1015P	p.P1388P	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	21	4345	+			1444			Cytoplasmic (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.4164A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.585|1.585	-0.530521|-0.530521	0.04112|0.04112	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000449420|ENST00000402328	.|.	.|.	.|.	5.67|5.67	-11.3|-11.3	0.00108|0.00108	.|.	.|.	.|.	.|.	.|.	T|.	0.14787|.	0.0357|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.44559|.	-0.9320|.	4|.	.|.	.|.	.|.	.|.	2.0105|2.0105	0.03486|0.03486	0.2791:0.2409:0.3204:0.1597|0.2791:0.2409:0.3204:0.1597	.|.	.|.	.|.	.|.	L|X	1336|456	.|.	.|.	Q|R	+|+	2|1	0|2	LPHN2|LPHN2	82229369|82229369	0.000000|0.000000	0.05858|0.05858	0.125000|0.125000	0.21846|0.21846	0.944000|0.944000	0.59088|0.59088	-5.100000|-5.100000	0.00151|0.00151	-3.046000|-3.046000	0.00261|0.00261	-0.379000|-0.379000	0.06801|0.06801	CAG|AGA		0.413	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		4	38	0	0	0	0.009096	0	4	38				
PRKACB	5567	broad.mit.edu	37	1	84650823	84650823	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:84650823G>T	ENST00000370689.2	+	5	641	c.377G>T	c.(376-378)gGg>gTg	p.G126V	PRKACB_ENST00000370685.3_Missense_Mutation_p.G173V|PRKACB_ENST00000394838.2_Missense_Mutation_p.G133V|PRKACB_ENST00000370680.1_Missense_Mutation_p.G132V|PRKACB_ENST00000370688.3_Missense_Mutation_p.G126V|PRKACB_ENST00000370682.3_Missense_Mutation_p.G130V|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000394839.2_Missense_Mutation_p.G96V	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	126	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)	p.G126V(2)|p.G133V(1)|p.G173V(1)		breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TATGTCCCTGGGGGTGAAATG	0.284																																							uc001djj.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(2)|ovary(1)	3						c.(376-378)GGG>GTG		cAMP-dependent protein kinase catalytic subunit							108.0	120.0	116.0					1																	84650823		2203	4297	6500	SO:0001583	missense	5567				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	g.chr1:84650823G>T	BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.377G>T	1.37:g.84650823G>T	ENSP00000359723:p.Gly126Val					PRKACB_uc001djl.2_Missense_Mutation_p.G173V|PRKACB_uc010ort.1_Missense_Mutation_p.G133V|PRKACB_uc001djn.2_Missense_Mutation_p.G130V|PRKACB_uc010oru.1_Missense_Mutation_p.G114V|PRKACB_uc001djp.2_Missense_Mutation_p.G132V|PRKACB_uc001djq.2_Missense_Mutation_p.G96V|PRKACB_uc010orv.1_Missense_Mutation_p.G113V|PRKACB_uc001dji.2_Missense_Mutation_p.G126V|PRKACB_uc001djk.2_Missense_Mutation_p.G173V|PRKACB_uc009wcf.1_Missense_Mutation_p.G132V	p.G126V	NM_002731	NP_002722	P22694	KAPCB_HUMAN		all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)	5	641	+			126			Protein kinase.		B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	c.377G>T	CCDS691.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735756	0.89482	.	.	ENSG00000142875	ENST00000370689;ENST00000370688;ENST00000370685;ENST00000446538;ENST00000370684;ENST00000436133;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000432111;ENST00000450730;ENST00000370680;ENST00000413538;ENST00000417530;ENST00000394839;ENST00000370681	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74	5.09	5.09	0.68999	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	0.43010	0.1228	M	0.93016	3.37	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.57740	-0.7759	10	0.87932	D	0	-10.1592	18.8596	0.92266	0.0:0.0:1.0:0.0	.	126;114;133;132;96;132;130;173;173;126;126	B2RB89;P22694-3;B4DKB0;B1APG3;B1APG4;P22694-6;P22694-7;P22694-2;B4E2L0;P22694;P22694-8	.;.;.;.;.;.;.;.;.;KAPCB_HUMAN;.	V	126;126;173;133;114;130;133;130;132;122;129;132;121;113;96;88	ENSP00000359723:G126V;ENSP00000359722:G126V;ENSP00000359719:G173V;ENSP00000401252:G133V;ENSP00000359718:G114V;ENSP00000390906:G130V;ENSP00000378314:G133V;ENSP00000359716:G130V;ENSP00000392275:G122V;ENSP00000393654:G129V;ENSP00000359714:G132V;ENSP00000397175:G121V;ENSP00000399326:G113V;ENSP00000378315:G96V	ENSP00000359713:G132V	G	+	2	0	PRKACB	84423411	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.680000	0.98651	2.540000	0.85666	0.557000	0.71058	GGG		0.284	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	NM_182948		43	124	1	0	3.19069e-20	0.00361	5.67492e-20	43	124				
GBP6	163351	broad.mit.edu	37	1	89849285	89849285	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:89849285C>A	ENST00000370456.4	+	9	1533	c.1440C>A	c.(1438-1440)gcC>gcA	p.A480A	GBP6_ENST00000535065.1_Silent_p.A350A	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	480					cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A480A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CAGATAAAGCCCTCACTGATA	0.473																																							uc001dnf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1438-1440)GCC>GCA		guanylate binding protein family, member 6							94.0	95.0	95.0					1																	89849285		2203	4300	6503	SO:0001819	synonymous_variant	163351						GTP binding|GTPase activity	g.chr1:89849285C>A	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1440C>A	1.37:g.89849285C>A						GBP6_uc010ost.1_Silent_p.A350A	p.A480A	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	9	1714	+		Lung NSC(277;0.0908)	480					A2RRM3|Q6ZN86|Q7Z3F0	Silent	SNP	ENST00000370456.4	37	c.1440C>A	CCDS723.1																																																																																				0.473	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460		18	50	1	0	1.96292e-10	0.010504	3.05948e-10	18	50				
DPYD	1806	broad.mit.edu	37	1	97981341	97981341	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:97981341G>A	ENST00000370192.3	-	13	1781	c.1681C>T	c.(1681-1683)Cga>Tga	p.R561*		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	561					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.R561*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	AAAGCTCTTCGAATCATTGAT	0.388																																							uc001drv.2		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	ovary(3)|skin(3)|breast(2)	8						c.(1681-1683)CGA>TGA		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						61.0	59.0	60.0					1																	97981341		2203	4300	6503	SO:0001587	stop_gained	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97981341G>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1681C>T	1.37:g.97981341G>A	ENSP00000359211:p.Arg561*						p.R561*	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	13	1818	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	561					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Nonsense_Mutation	SNP	ENST00000370192.3	37	c.1681C>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	40	7.944959	0.98574	.	.	ENSG00000188641	ENST00000370192	.	.	.	5.2	4.26	0.50523	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9946	15.1674	0.72840	0.0:0.0:0.8576:0.1424	.	.	.	.	X	561	.	ENSP00000359211:R561X	R	-	1	2	DPYD	97753929	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.794000	0.62482	1.286000	0.44565	0.585000	0.79938	CGA		0.388	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		6	53	0	0	0	0.001984	0	6	53				
COL11A1	1301	broad.mit.edu	37	1	103428212	103428212	+	Silent	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:103428212T>A	ENST00000370096.3	-	39	3333	c.3021A>T	c.(3019-3021)gcA>gcT	p.A1007A	COL11A1_ENST00000512756.1_Silent_p.A891A|COL11A1_ENST00000353414.4_Silent_p.A968A|COL11A1_ENST00000358392.2_Silent_p.A1019A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1007	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.A1007A(1)|p.A1019A(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTTGTACCTTTGCACCTTCTT	0.463																																							uc001dul.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3019-3021)GCA>GCT		alpha 1 type XI collagen isoform A							91.0	89.0	90.0					1																	103428212		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103428212T>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3021A>T	1.37:g.103428212T>A						COL11A1_uc001duk.2_Silent_p.A203A|COL11A1_uc001dum.2_Silent_p.A1019A|COL11A1_uc001dun.2_Silent_p.A968A|COL11A1_uc009weh.2_Silent_p.A891A	p.A1007A	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	39	3339	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1007			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.3021A>T	CCDS778.1																																																																																				0.463	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		23	50	0	0	0	0.002299	0	23	50				
KIAA1324	57535	broad.mit.edu	37	1	109743374	109743374	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:109743374C>T	ENST00000369939.3	+	21	3008	c.2825C>T	c.(2824-2826)tCc>tTc	p.S942F	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.S855F	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	942					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)	p.S942F(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TACAAGTACTCCAAGCTGGTG	0.483											OREG0013630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001dwq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5						c.(2824-2826)TCC>TTC		hypothetical protein LOC57535 precursor							97.0	89.0	92.0					1																	109743374		2203	4300	6503	SO:0001583	missense	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109743374C>T	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.2825C>T	1.37:g.109743374C>T	ENSP00000358955:p.Ser942Phe		OREG0013630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1422	KIAA1324_uc009wex.1_Missense_Mutation_p.S892F|KIAA1324_uc009wey.2_Missense_Mutation_p.S855F|KIAA1324_uc010ovg.1_Missense_Mutation_p.S840F|KIAA1324_uc001dwr.2_Missense_Mutation_p.S592F	p.S942F	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	22	2961	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	942			Cytoplasmic (Potential).		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	c.2825C>T	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002601	0.93227	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.15603	2.62;2.41;2.63	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.37320	0.0999	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.04693	-1.0933	10	0.52906	T	0.07	-26.9636	18.9226	0.92530	0.0:1.0:0.0:0.0	.	942;855;942;942	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	F	942;892;855	ENSP00000358955:S942F;ENSP00000393964:S892F;ENSP00000434595:S855F	ENSP00000358955:S942F	S	+	2	0	KIAA1324	109544897	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.713000	0.84693	2.778000	0.95560	0.655000	0.94253	TCC		0.483	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775		8	41	0	0	0	0.004482	0	8	41				
KCNA2	3737	broad.mit.edu	37	1	111146070	111146070	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:111146070C>G	ENST00000485317.1	-	3	2008	c.1335G>C	c.(1333-1335)aaG>aaC	p.K445N	KCNA2_ENST00000369770.3_Intron|KCNA2_ENST00000525120.1_5'Flank|KCNA2_ENST00000316361.4_Missense_Mutation_p.K445N|KCNA2_ENST00000440270.1_Missense_Mutation_p.K445N			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	445					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.K445N(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	TTCTACTTTTCTTTAGGTCAG	0.438																																					Pancreas(18;568 735 10587 23710 36357)	Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1333-1335)AAG>AAC		potassium voltage-gated channel, shaker-related							210.0	199.0	203.0					1																	111146070		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111146070C>G	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.1335G>C	1.37:g.111146070C>G	ENSP00000433109:p.Lys445Asn					KCNA2_uc009wfv.1_Intron|KCNA2_uc009wfw.2_Missense_Mutation_p.K445N	p.K445N	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	1831	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	445					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.1335G>C	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	9.273	1.046062	0.19748	.	.	ENSG00000177301	ENST00000485317;ENST00000440270;ENST00000316361	D;D;D	0.96619	-4.07;-4.07;-4.07	5.25	5.25	0.73442	.	0.319538	0.33712	N	0.004636	D	0.90445	0.7008	L	0.52573	1.65	0.58432	D	0.999995	B	0.23650	0.089	B	0.20955	0.032	D	0.87462	0.2408	10	0.22109	T	0.4	.	11.8865	0.52604	0.0:0.9188:0.0:0.0812	.	445	P16389	KCNA2_HUMAN	N	445	ENSP00000433109:K445N;ENSP00000415257:K445N;ENSP00000314520:K445N	ENSP00000314520:K445N	K	-	3	2	KCNA2	110947593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.235000	0.51328	2.443000	0.82685	0.655000	0.94253	AAG		0.438	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		20	134	0	0	0	0.002299	0	20	134				
KCNA2	3737	broad.mit.edu	37	1	111147160	111147160	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:111147160C>A	ENST00000485317.1	-	3	918	c.245G>T	c.(244-246)cGc>cTc	p.R82L	KCNA2_ENST00000369770.3_Missense_Mutation_p.R82L|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000316361.4_Missense_Mutation_p.R82L|KCNA2_ENST00000440270.1_Missense_Mutation_p.R82L			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	82					optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R82L(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	Dalfampridine(DB06637)	AAAGCTAGGGCGGTTCCGATC	0.478																																					Pancreas(18;568 735 10587 23710 36357)	Pancreas(18;568 735 10587 23710 36357)	uc001dzu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(244-246)CGC>CTC		potassium voltage-gated channel, shaker-related							56.0	62.0	60.0					1																	111147160		2203	4300	6503	SO:0001583	missense	3737					juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111147160C>A	L02752	CCDS827.1, CCDS55625.1	1p13	2012-07-05			ENSG00000177301	ENSG00000177301		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6220	protein-coding gene	gene with protein product		176262				16382104	Standard	NM_004974		Approved	Kv1.2, HK4	uc009wfw.3	P16389	OTTHUMG00000011567	ENST00000485317.1:c.245G>T	1.37:g.111147160C>A	ENSP00000433109:p.Arg82Leu					KCNA2_uc009wfv.1_Missense_Mutation_p.R82L|KCNA2_uc009wfw.2_Missense_Mutation_p.R82L	p.R82L	NM_004974	NP_004965	P16389	KCNA2_HUMAN		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)	2	741	-		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	82					Q86XG6	Missense_Mutation	SNP	ENST00000485317.1	37	c.245G>T	CCDS827.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209971	0.79240	.	.	ENSG00000177301	ENST00000369770;ENST00000485317;ENST00000440270;ENST00000316361	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.75	5.75	0.90469	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.91270	0.7248	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.92585	0.6078	10	0.66056	D	0.02	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	82;82	Q86XG6;P16389	.;KCNA2_HUMAN	L	82	ENSP00000358785:R82L;ENSP00000433109:R82L;ENSP00000415257:R82L;ENSP00000314520:R82L	ENSP00000314520:R82L	R	-	2	0	KCNA2	110948683	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.770000	0.85390	2.716000	0.92895	0.655000	0.94253	CGC		0.478	KCNA2-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128001.2	NM_004974		11	70	1	0	6.40141e-05	0.000978	8.01272e-05	11	70				
KCND3	3752	broad.mit.edu	37	1	112524479	112524479	+	Silent	SNP	C	C	A	rs200894990		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:112524479C>A	ENST00000315987.2	-	2	1349	c.870G>T	c.(868-870)cgG>cgT	p.R290R	KCND3_ENST00000302127.4_Silent_p.R290R|KCND3_ENST00000369697.1_Silent_p.R290R	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	290					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.R290R(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CGCGGAAGACCCGGAGCGTGA	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		15076	0.001		0.0	False		,,,				2504	0.0						uc001ebu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(868-870)CGG>CGT		potassium voltage-gated channel, Shal-related							80.0	82.0	81.0					1																	112524479		2203	4300	6503	SO:0001819	synonymous_variant	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524479C>A	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.870G>T	1.37:g.112524479C>A						KCND3_uc001ebv.1_Silent_p.R290R	p.R290R	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	2	1350	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	290			Helical; Voltage-sensor; Name=Segment S4; (Potential).		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Silent	SNP	ENST00000315987.2	37	c.870G>T	CCDS843.1																																																																																				0.597	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		5	54	1	0	0.000602214	0.000602	0.000706611	5	54				
HSD3B2	3284	broad.mit.edu	37	1	119962113	119962113	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:119962113G>T	ENST00000543831.1	+	3	464	c.215G>T	c.(214-216)tGc>tTc	p.C72F	HSD3B2_ENST00000471656.1_3'UTR|HSD3B2_ENST00000369416.3_Missense_Mutation_p.C72F	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	72					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)	p.C72F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	AAAAGAGCCTGCCAGGACGTC	0.488																																							uc001ehs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(214-216)TGC>TTC		3 beta-hydroxysteroid dehydrogenase 2	NADH(DB00157)|Trilostane(DB01108)						109.0	87.0	95.0					1																	119962113		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119962113G>T	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.215G>T	1.37:g.119962113G>T	ENSP00000445122:p.Cys72Phe					HSD3B2_uc001eht.2_Missense_Mutation_p.C72F|HSD3B2_uc001ehu.2_Missense_Mutation_p.C72F	p.C72F	NM_000198	NP_000189	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	2	988	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	72					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.215G>T	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	14.45	2.538244	0.45176	.	.	ENSG00000203859	ENST00000543831;ENST00000433745;ENST00000369416	D;D;D	0.86366	-2.11;-2.11;-2.11	3.93	3.93	0.45458	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89319	0.6681	L	0.58302	1.8	0.80722	D	1	D;P	0.89917	1.0;0.931	D;P	0.87578	0.998;0.798	D	0.88794	0.3280	9	.	.	.	-5.4127	13.5239	0.61584	0.0:0.0:1.0:0.0	.	72;72	P26439-2;P26439	.;3BHS2_HUMAN	F	72	ENSP00000445122:C72F;ENSP00000388292:C72F;ENSP00000358424:C72F	.	C	+	2	0	HSD3B2	119763636	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	5.741000	0.68638	1.943000	0.56356	0.298000	0.19748	TGC		0.488	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		15	43	1	0	2.61681e-11	0.00245	4.18576e-11	15	43				
FLG	2312	broad.mit.edu	37	1	152285620	152285620	+	Missense_Mutation	SNP	G	G	T	rs570371680		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:152285620G>T	ENST00000368799.1	-	3	1777	c.1742C>A	c.(1741-1743)aCc>aAc	p.T581N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	581	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.T581N(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)			TGAGTGCCTGGTGCCGTCTCC	0.562									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(1741-1743)ACC>AAC		filaggrin							392.0	367.0	376.0					1																	152285620		2203	4300	6503	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.chr1:152285620G>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.1742C>A	1.37:g.152285620G>T	ENSP00000357789:p.Thr581Asn					uc001ezv.2_5'Flank	p.T581N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1778	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		581			Filaggrin 3.|Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1742C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	3.516	-0.098766	0.07010	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.03607	3.87	2.15	1.19	0.21007	.	.	.	.	.	T	0.01523	0.0049	N	0.22421	0.69	0.09310	N	1	P	0.50272	0.933	P	0.53988	0.739	T	0.48175	-0.9058	9	0.18710	T	0.47	.	6.3611	0.21429	0.0:0.0:0.7144:0.2856	.	581	P20930	FILA_HUMAN	N	581;113	ENSP00000357789:T581N	ENSP00000357789:T581N	T	-	2	0	FLG	150552244	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.010000	0.12743	0.216000	0.20781	-0.236000	0.12185	ACC		0.562	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		83	328	1	0	1.72036e-36	0.00361	3.16772e-36	83	328				
FLG	2312	broad.mit.edu	37	1	152285768	152285768	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:152285768G>T	ENST00000368799.1	-	3	1629	c.1594C>A	c.(1594-1596)Cac>Aac	p.H532N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	532	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.H532N(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)			GATTGCTCGTGGTGGGATCCC	0.597									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(1594-1596)CAC>AAC		filaggrin							366.0	362.0	363.0					1																	152285768		2203	4300	6503	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.chr1:152285768G>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.1594C>A	1.37:g.152285768G>T	ENSP00000357789:p.His532Asn					uc001ezv.2_5'Flank	p.H532N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1630	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		532			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.1594C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	12.02	1.813588	0.32053	.	.	ENSG00000143631	ENST00000368799;ENST00000392689	T	0.01902	4.57	3.63	3.63	0.41609	.	.	.	.	.	T	0.03915	0.0110	M	0.76002	2.32	0.09310	N	1	D	0.62365	0.991	D	0.63283	0.913	T	0.43621	-0.9380	9	0.21540	T	0.41	.	11.0049	0.47629	0.0:0.0:1.0:0.0	.	532	P20930	FILA_HUMAN	N	532;64	ENSP00000357789:H532N	ENSP00000357789:H532N	H	-	1	0	FLG	150552392	0.107000	0.21998	0.007000	0.13788	0.003000	0.03518	3.343000	0.52167	2.055000	0.61198	0.603000	0.83216	CAC		0.597	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		56	513	1	0	1.93748e-29	0.00361	3.54962e-29	56	513				
FLG2	388698	broad.mit.edu	37	1	152329306	152329306	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:152329306G>T	ENST00000388718.5	-	3	1028	c.956C>A	c.(955-957)tCa>tAa	p.S319*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	319	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S319*(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTAATTCCTGACTGACAGCC	0.483																																							uc001ezw.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(955-957)TCA>TAA		filaggrin family member 2							169.0	160.0	163.0					1																	152329306		2203	4300	6503	SO:0001587	stop_gained	388698						calcium ion binding|structural molecule activity	g.chr1:152329306G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.956C>A	1.37:g.152329306G>T	ENSP00000373370:p.Ser319*					uc001ezv.2_Intron	p.S319*	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1029	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		319			Ser-rich.		Q9H4U1	Nonsense_Mutation	SNP	ENST00000388718.5	37	c.956C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	37	6.171389	0.97343	.	.	ENSG00000143520	ENST00000388718	.	.	.	5.64	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7264	12.7442	0.57270	0.0:0.1636:0.8364:0.0	.	.	.	.	X	319	.	ENSP00000373370:S319X	S	-	2	0	FLG2	150595930	0.685000	0.27652	0.997000	0.53966	0.960000	0.62799	2.615000	0.46368	2.657000	0.90304	0.650000	0.86243	TCA		0.483	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		32	252	1	0	2.81731e-10	0.002096	4.38182e-10	32	252				
KPRP	448834	broad.mit.edu	37	1	152733428	152733428	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:152733428G>A	ENST00000606109.1	+	1	1392	c.1364G>A	c.(1363-1365)tGt>tAt	p.C455Y	KPRP_ENST00000368773.1_Missense_Mutation_p.C455Y			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	455	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.C455Y(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGGGCAGTGTGAGATTCCA	0.612																																							uc001fal.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(1363-1365)TGT>TAT		keratinocyte proline-rich protein							143.0	142.0	142.0					1																	152733428		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152733428G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1364G>A	1.37:g.152733428G>A	ENSP00000475216:p.Cys455Tyr						p.C455Y	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1422	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		455			Pro-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.1364G>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801049	0.50315	.	.	ENSG00000203786	ENST00000368773	T	0.21932	1.98	4.61	3.67	0.42095	.	0.136972	0.34507	N	0.003907	T	0.09379	0.0231	L	0.48642	1.525	0.09310	N	1	P	0.39782	0.688	B	0.43701	0.428	T	0.10268	-1.0637	10	0.45353	T	0.12	-4.8279	5.7337	0.18055	0.0982:0.0:0.7064:0.1955	.	455	Q5T749	KPRP_HUMAN	Y	455	ENSP00000357762:C455Y	ENSP00000357762:C455Y	C	+	2	0	KPRP	151000052	0.030000	0.19436	0.028000	0.17463	0.302000	0.27658	1.995000	0.40767	1.254000	0.44035	0.462000	0.41574	TGT		0.612	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		31	96	0	0	0	0.002096	0	31	96				
SPRR2B	6701	broad.mit.edu	37	1	153043164	153043164	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:153043164T>A	ENST00000368755.2	-	1	152	c.152A>T	c.(151-153)cAg>cTg	p.Q51L	SPRR2B_ENST00000341611.2_Missense_Mutation_p.Q51L|SPRR2B_ENST00000368752.4_Missense_Mutation_p.Q51L			P35325	SPR2B_HUMAN	small proline-rich protein 2B	51					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)		p.Q51L(1)		endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATATTTCTGCTGGCACTGCTG	0.587																																							uc001fbg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(151-153)CAG>CTG		small proline-rich protein 2B							142.0	130.0	134.0					1																	153043164		2203	4298	6501	SO:0001583	missense	6701				keratinization	cornified envelope|cytoplasm		g.chr1:153043164T>A	AF333952	CCDS30865.1	1q21-q22	2008-02-05			ENSG00000196805	ENSG00000196805			11262	protein-coding gene	gene with protein product		182268				8325635	Standard	NM_001017418		Approved		uc001fbg.3	P35325	OTTHUMG00000013863	ENST00000368755.2:c.152A>T	1.37:g.153043164T>A	ENSP00000357744:p.Gln51Leu					SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	p.Q51L	NM_001017418	NP_001017418	P35325	SPR2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	215	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		51					Q5T528	Missense_Mutation	SNP	ENST00000368755.2	37	c.152A>T	CCDS30865.1	.	.	.	.	.	.	.	.	.	.	T	5.576	0.291036	0.10567	.	.	ENSG00000196805	ENST00000368755;ENST00000341611;ENST00000368752	T;T;T	0.34859	1.34;1.34;1.34	2.5	1.27	0.21489	.	2.011540	0.03133	N	0.165489	T	0.10380	0.0254	.	.	.	0.09310	N	1	B	0.30889	0.299	B	0.21360	0.034	T	0.23547	-1.0185	9	0.87932	D	0	.	5.7336	0.18053	0.0:0.0:0.2787:0.7213	.	51	P35325	SPR2B_HUMAN	L	51	ENSP00000357744:Q51L;ENSP00000340703:Q51L;ENSP00000357741:Q51L	ENSP00000340703:Q51L	Q	-	2	0	SPRR2B	151309788	0.002000	0.14202	0.010000	0.14722	0.015000	0.08874	-0.233000	0.09041	0.142000	0.18901	-0.666000	0.03841	CAG		0.587	SPRR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038905.2			40	116	0	0	0	0.00361	0	40	116				
SLC27A3	11000	broad.mit.edu	37	1	153747848	153747848	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:153747848C>A	ENST00000368661.3	+	1	81	c.16C>A	c.(16-18)Cgc>Agc	p.R6S	SLC27A3_ENST00000271857.2_Missense_Mutation_p.R87S|SLC27A3_ENST00000484014.1_3'UTR	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	6					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)	p.R6S(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGTGTGCCAGCGCACGCGCGC	0.672																																							uc001fcz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(16-18)CGC>AGC		solute carrier family 27 member 3							47.0	53.0	51.0					1																	153747848		2203	4300	6503	SO:0001583	missense	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153747848C>A	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.16C>A	1.37:g.153747848C>A	ENSP00000357650:p.Arg6Ser					SLC27A3_uc009won.2_RNA	p.R6S	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		1	81	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		6					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Missense_Mutation	SNP	ENST00000368661.3	37	c.16C>A	CCDS1053.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216263	0.58452	.	.	ENSG00000143554	ENST00000271857;ENST00000368661	T;T	0.61510	0.1;0.25	3.83	2.81	0.32909	.	.	.	.	.	T	0.13798	0.0334	N	0.08118	0	0.22918	N	0.998567	B	0.28055	0.199	B	0.26310	0.068	T	0.11108	-1.0601	9	0.19147	T	0.46	-12.2976	5.5474	0.17071	0.0:0.8428:0.0:0.1572	.	6	Q5K4L6	S27A3_HUMAN	S	87;6	ENSP00000271857:R87S;ENSP00000357650:R6S	ENSP00000271857:R87S	R	+	1	0	SLC27A3	152014472	0.535000	0.26370	0.980000	0.43619	0.883000	0.51084	0.090000	0.15025	1.985000	0.57927	0.462000	0.41574	CGC		0.672	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		6	58	1	0	0.00116845	0.001168	0.00134087	6	58				
TTC24	164118	broad.mit.edu	37	1	156554984	156554984	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:156554984G>C	ENST00000368237.3	+	7	1417	c.1417G>C	c.(1417-1419)Gca>Cca	p.A473P	TTC24_ENST00000478081.1_3'UTR|AL365181.1_ENST00000581084.1_RNA|TTC24_ENST00000368236.3_Missense_Mutation_p.A473P			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	473								p.A473P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAGAGGTCGGCAAACGTTCC	0.562																																							uc009wsc.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(577-579)GCA>CCA		tetratricopeptide repeat domain 24							63.0	77.0	73.0					1																	156554984		1973	4145	6118	SO:0001583	missense	164118						binding	g.chr1:156554984G>C		CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"""Tetratricopeptide (TTC) repeat domain containing"""	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.1417G>C	1.37:g.156554984G>C	ENSP00000357220:p.Ala473Pro						p.A193P	NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN			6	717	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		473					Q5T3H7	Missense_Mutation	SNP	ENST00000368237.3	37	c.577G>C	CCDS53379.1	.	.	.	.	.	.	.	.	.	.	G	9.665	1.145290	0.21288	.	.	ENSG00000187862	ENST00000368236;ENST00000368237	T;T	0.25414	1.8;1.8	4.05	-1.54	0.08584	.	2.189130	0.02550	N	0.095615	T	0.05410	0.0143	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.27640	-1.0068	10	0.33940	T	0.23	-0.4943	4.411	0.11432	0.3949:0.1624:0.4426:0.0	.	473	A2A3L6	TTC24_HUMAN	P	473	ENSP00000357219:A473P;ENSP00000357220:A473P	ENSP00000357219:A473P	A	+	1	0	TTC24	154821608	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.708000	0.05035	-0.414000	0.07495	-0.379000	0.06801	GCA		0.562	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		3	43	0	0	0	0.009096	0	3	43				
NES	10763	broad.mit.edu	37	1	156642540	156642540	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:156642540C>T	ENST00000368223.3	-	4	1572	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	480	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.K480K(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATTCTCCATCCTTAGCCTCTA	0.587																																							uc001fpq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)	6						c.(1438-1440)AAG>AAA		nestin							97.0	101.0	99.0					1																	156642540		2203	4300	6503	SO:0001819	synonymous_variant	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642540C>T	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1440G>A	1.37:g.156642540C>T							p.K480K	NM_006617	NP_006608	P48681	NEST_HUMAN			4	1573	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		480			Tail.		O00552|Q3LIF5|Q5SYZ6	Silent	SNP	ENST00000368223.3	37	c.1440G>A	CCDS1151.1																																																																																				0.587	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		28	175	0	0	0	0.009535	0	28	175				
CD5L	922	broad.mit.edu	37	1	157803102	157803102	+	Missense_Mutation	SNP	G	G	T	rs74121552		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:157803102G>T	ENST00000368174.4	-	5	1015	c.919C>A	c.(919-921)Cgc>Agc	p.R307S	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	307	SRCR 3. {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.R307S(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)			AGCCAGATGCGGCCAACCCCA	0.582																																							uc001frk.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(919-921)CGC>AGC		CD5 molecule-like precursor							101.0	102.0	102.0					1																	157803102		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157803102G>T	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.919C>A	1.37:g.157803102G>T	ENSP00000357156:p.Arg307Ser						p.R307S	NM_005894	NP_005885	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	1062	-	all_hematologic(112;0.0378)		307			SRCR 3.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.919C>A	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	4.013	-0.000186	0.07819	.	.	ENSG00000073754	ENST00000368174	T	0.35236	1.32	5.06	3.18	0.36537	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.920990	0.09263	N	0.826255	T	0.12178	0.0296	L	0.45228	1.405	0.09310	N	1	P	0.40602	0.723	B	0.38712	0.28	T	0.17623	-1.0363	10	0.23302	T	0.38	.	6.1183	0.20139	0.0869:0.0:0.5835:0.3296	.	307	O43866	CD5L_HUMAN	S	307	ENSP00000357156:R307S	ENSP00000357156:R307S	R	-	1	0	CD5L	156069726	0.000000	0.05858	0.011000	0.14972	0.995000	0.86356	0.824000	0.27379	0.701000	0.31803	0.655000	0.94253	CGC		0.582	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		47	47	1	0	2.54085e-39	0.00361	4.70218e-39	47	47				
KIRREL	55243	broad.mit.edu	37	1	158064446	158064446	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:158064446G>T	ENST00000359209.6	+	15	1877	c.1810G>T	c.(1810-1812)Ggc>Tgc	p.G604C	KIRREL_ENST00000368173.3_Missense_Mutation_p.G620C|KIRREL_ENST00000360089.4_Missense_Mutation_p.G440C|KIRREL_ENST00000368172.1_Missense_Mutation_p.G418C|KIRREL_ENST00000392272.2_Missense_Mutation_p.G501C|KIRREL_ENST00000416935.2_Missense_Mutation_p.G504C			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	604				DTREEYEMKDPTNGY -> ERPRIRGRLNTSYSD (in Ref. 1). {ECO:0000305}.	excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)	p.G440C(1)|p.G604C(1)|p.G620C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCCCACCAATGGCTACTACAA	0.627																																							uc001frn.3		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(1810-1812)GGC>TGC		kin of IRRE like precursor							58.0	62.0	61.0					1																	158064446		2201	4299	6500	SO:0001583	missense	55243					integral to membrane		g.chr1:158064446G>T	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1810G>T	1.37:g.158064446G>T	ENSP00000352138:p.Gly604Cys					KIRREL_uc010pib.1_Missense_Mutation_p.G504C|KIRREL_uc009wsq.2_Missense_Mutation_p.G440C|KIRREL_uc001fro.3_Missense_Mutation_p.G418C|uc001frp.2_5'Flank	p.G604C	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			15	2214	+	all_hematologic(112;0.0378)		604	DTREEYEMKDPTNGY -> ERPRIRGRLNTSYSD (in Ref. 1).		Cytoplasmic (Potential).		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Missense_Mutation	SNP	ENST00000359209.6	37	c.1810G>T	CCDS1172.2	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333872	0.81801	.	.	ENSG00000183853	ENST00000360089;ENST00000368173;ENST00000392272;ENST00000359209;ENST00000416935;ENST00000368172	T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.91	4.91	0.64330	.	0.000000	0.44097	D	0.000485	T	0.70876	0.3274	L	0.57536	1.79	0.80722	D	1	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	0.75096	-0.3438	10	0.87932	D	0	-27.6402	15.5912	0.76530	0.0:0.0:1.0:0.0	.	504;440;418;604	B4DN67;Q5W0F9;Q5W0G0;Q96J84	.;.;.;KIRR1_HUMAN	C	440;620;501;604;504;418	ENSP00000353202:G440C;ENSP00000357155:G620C;ENSP00000376098:G501C;ENSP00000352138:G604C;ENSP00000389674:G504C;ENSP00000357154:G418C	ENSP00000352138:G604C	G	+	1	0	KIRREL	156331070	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	9.412000	0.97347	2.255000	0.74692	0.462000	0.41574	GGC		0.627	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		4	52	1	0	0.00024832	0.009096	0.000299541	4	52				
CD1E	913	broad.mit.edu	37	1	158325207	158325207	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:158325207C>A	ENST00000368167.3	+	3	712	c.473C>A	c.(472-474)tCt>tAt	p.S158Y	CD1E_ENST00000444681.2_Missense_Mutation_p.S59Y|CD1E_ENST00000368161.3_Missense_Mutation_p.S158Y|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.S158Y|CD1E_ENST00000434258.1_Missense_Mutation_p.S156Y|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.S158Y|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368165.3_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	158					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.S158Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGGGAGCCATCTCCAGGAGCA	0.458																																							uc001fse.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(472-474)TCT>TAT		CD1E antigen isoform a precursor							89.0	87.0	88.0					1																	158325207		1832	4102	5934	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325207C>A	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.473C>A	1.37:g.158325207C>A	ENSP00000357149:p.Ser158Tyr					CD1E_uc010pid.1_Missense_Mutation_p.S156Y|CD1E_uc010pie.1_Missense_Mutation_p.S59Y|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.S158Y|CD1E_uc001fsk.2_Intron|CD1E_uc001fsj.2_Intron|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.S158Y|CD1E_uc001fry.2_Missense_Mutation_p.S158Y|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.S158Y|CD1E_uc009wsv.2_Missense_Mutation_p.S59Y|CD1E_uc001frz.2_Intron|CD1E_uc009wsw.2_5'Flank	p.S158Y	NM_030893	NP_112155	P15812	CD1E_HUMAN			3	712	+	all_hematologic(112;0.0378)		158					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.473C>A	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	C	9.955	1.221160	0.22457	.	.	ENSG00000158488	ENST00000434258;ENST00000444681;ENST00000368167;ENST00000368163;ENST00000368160;ENST00000368161	T;T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23;3.23	4.53	3.61	0.41365	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.162749	0.29616	N	0.011651	T	0.11452	0.0279	M	0.79258	2.445	0.20764	N	0.999856	P;P;P;P;P;P;P	0.52842	0.923;0.832;0.502;0.956;0.832;0.897;0.701	B;B;B;P;B;B;B	0.57009	0.278;0.202;0.415;0.811;0.318;0.367;0.302	T	0.02282	-1.1183	10	0.56958	D	0.05	-11.7959	7.7904	0.29116	0.0:0.8886:0.0:0.1114	.	59;156;59;158;158;158;158	B4E042;E7ET31;E7EP01;P15812-2;P15812;P15812-3;P15812-4	.;.;.;.;CD1E_HUMAN;.;.	Y	156;59;158;158;158;158	ENSP00000401957:S156Y;ENSP00000402906:S59Y;ENSP00000357149:S158Y;ENSP00000357145:S158Y;ENSP00000357142:S158Y;ENSP00000357143:S158Y	ENSP00000357142:S158Y	S	+	2	0	CD1E	156591831	0.034000	0.19679	0.616000	0.29078	0.360000	0.29518	0.447000	0.21710	2.518000	0.84900	0.563000	0.77884	TCT		0.458	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		37	120	1	0	1.66425e-11	0.004878	2.69152e-11	37	120				
SPTA1	6708	broad.mit.edu	37	1	158592861	158592861	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:158592861G>A	ENST00000368147.4	-	43	6212	c.6032C>T	c.(6031-6033)gCc>gTc	p.A2011V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2011					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.A2011V(6)		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)					CAGCAGAGCGGCATAACGCTC	0.483																																							uc001fst.1		NA																	6	Substitution - Missense(6)		lung(4)|urinary_tract(1)|prostate(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(6031-6033)GCC>GTC		spectrin, alpha, erythrocytic 1							267.0	267.0	267.0					1																	158592861		1943	4143	6086	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.chr1:158592861G>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.6032C>T	1.37:g.158592861G>A	ENSP00000357129:p.Ala2011Val						p.A2011V	NM_003126	NP_003117	P02549	SPTA1_HUMAN			43	6231	-	all_hematologic(112;0.0378)		2011			Spectrin 19.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6032C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	9.476	1.096957	0.20552	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	4.78	0.669	0.17918	.	.	.	.	.	T	0.22859	0.0552	M	0.68952	2.095	0.30521	N	0.768424	B	0.23990	0.095	B	0.29267	0.1	T	0.14531	-1.0469	9	0.33940	T	0.23	.	5.4632	0.16627	0.1562:0.0:0.5633:0.2805	.	2011	P02549	SPTA1_HUMAN	V	2011;2008	ENSP00000357130:A2011V;ENSP00000357129:A2008V	ENSP00000357129:A2008V	A	-	2	0	SPTA1	156859485	1.000000	0.71417	0.002000	0.10522	0.000000	0.00434	4.149000	0.58091	-0.029000	0.13827	-0.140000	0.14226	GCC		0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	468	0	0	0	0.001168	0	6	468				
OR6N1	128372	broad.mit.edu	37	1	158736362	158736362	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:158736362C>A	ENST00000335094.2	-	1	130	c.111G>T	c.(109-111)atG>atT	p.M37I		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M37I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CCAACACAGTCATGAGGTAAA	0.507																																							uc010piq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(109-111)ATG>ATT		olfactory receptor, family 6, subfamily N,							95.0	94.0	94.0					1																	158736362		2203	4300	6503	SO:0001583	missense	128372				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158736362C>A	BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.111G>T	1.37:g.158736362C>A	ENSP00000335535:p.Met37Ile						p.M37I	NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN			1	111	-	all_hematologic(112;0.0378)		37			Helical; Name=1; (Potential).		Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	c.111G>T	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	C	2.240	-0.374056	0.05034	.	.	ENSG00000197403	ENST00000335094	T	0.01787	4.64	5.1	-7.68	0.01268	.	0.457654	0.18605	N	0.136334	T	0.00178	0.0005	N	0.03016	-0.435	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35798	-0.9774	10	0.08381	T	0.77	-12.0724	2.6599	0.05024	0.1161:0.2611:0.4502:0.1726	.	37	Q8NGY5	OR6N1_HUMAN	I	37	ENSP00000335535:M37I	ENSP00000335535:M37I	M	-	3	0	OR6N1	157002986	0.000000	0.05858	0.056000	0.19401	0.001000	0.01503	-3.076000	0.00616	-1.995000	0.00971	-2.269000	0.00276	ATG		0.507	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185		5	42	1	0	3.59834e-05	0.001168	4.59055e-05	5	42				
CD48	962	broad.mit.edu	37	1	160654959	160654959	+	Missense_Mutation	SNP	C	C	T	rs372863860		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:160654959C>T	ENST00000368046.3	-	2	190	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	RP11-404F10.2_ENST00000588034.1_RNA|RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000598917.2_RNA|CD48_ENST00000368045.3_Missense_Mutation_p.V35M	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	35	Ig-like C2-type 1.				blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.V35M(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCGGAGACCACGGTCATATGT	0.512																																							uc001fwn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(103-105)GTG>ATG		CD48 molecule precursor		C	MET/VAL	0,4406		0,0,2203	55.0	54.0	54.0		103	0.6	0.0	1		54	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD48	NM_001778.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	35/244	160654959	1,13005	2203	4300	6503	SO:0001583	missense	962				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	g.chr1:160654959C>T	BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.103G>A	1.37:g.160654959C>T	ENSP00000357025:p.Val35Met					CD48_uc001fwo.1_Missense_Mutation_p.V35M|CD48_uc001fwp.2_Missense_Mutation_p.V35M	p.V35M	NM_001778	NP_001769	P09326	CD48_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	135	-	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		35			Ig-like C2-type 1.		Q5U055|Q8MGR0	Missense_Mutation	SNP	ENST00000368046.3	37	c.103G>A	CCDS1208.1	.	.	.	.	.	.	.	.	.	.	C	8.700	0.909581	0.17833	0.0	1.16E-4	ENSG00000117091	ENST00000368046;ENST00000368045	T;T	0.71698	-0.59;-0.59	3.6	0.619	0.17630	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	1.107680	0.07079	N	0.836797	T	0.46946	0.1419	L	0.42245	1.32	0.09310	N	1	D;B;B	0.52996	0.957;0.0;0.0	P;B;B	0.47673	0.554;0.001;0.001	T	0.39121	-0.9629	10	0.59425	D	0.04	-3.1859	2.7904	0.05386	0.224:0.5327:0.0:0.2433	.	35;35;35	Q8MGR0;Q6IAZ2;P09326	.;.;CD48_HUMAN	M	35	ENSP00000357025:V35M;ENSP00000357024:V35M	ENSP00000357024:V35M	V	-	1	0	CD48	158921583	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.041000	0.12084	0.136000	0.18733	0.462000	0.41574	GTG		0.512	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		6	42	0	0	0	0.00308	0	6	42				
FCGR3A	2214	broad.mit.edu	37	1	161576686	161576686	+	Intron	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:161576686G>T	ENST00000540048.1	-	2	94				FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|RP11-25K21.6_ENST00000537821.2_RNA|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000428605.2_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTTTTGACCTGGGTGGGGGCA	0.607																																							uc010pkp.1		NA																	0					0						c.(604-606)CTG>CTT		RecName: Full=Putative heat shock 70 kDa protein 7; AltName: Full=Heat shock 70 kDa protein B;																																				SO:0001627	intron_variant	3311							g.chr1:161576686G>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+23471C>A	1.37:g.161576686G>T							p.L202L	NR_024151						1	838	+								A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Silent	SNP	ENST00000540048.1	37	c.606G>T																																																																																					0.607	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		11	72	1	0	1.49906e-05	0.00245	1.95681e-05	11	72				
FCRLA	84824	broad.mit.edu	37	1	161681852	161681852	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:161681852T>A	ENST00000236938.6	+	4	921	c.679T>A	c.(679-681)Tac>Aac	p.Y227N	FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.Y216N|FCRLA_ENST00000367957.2_Missense_Mutation_p.Y87N|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000294796.4_Missense_Mutation_p.Y76N|FCRLA_ENST00000309691.6_Missense_Mutation_p.Y121N|FCRLA_ENST00000546024.1_Missense_Mutation_p.Y138N|FCRLA_ENST00000367953.3_Missense_Mutation_p.Y216N|FCRLA_ENST00000540521.1_Missense_Mutation_p.Y93N|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.Y233N	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	210	Ig-like C2-type 2.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.Y210N(1)|p.Y233N(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTTCTCCTTCTACAAGGATGG	0.562																																							uc001gbe.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(697-699)TAC>AAC		Fc receptor-like and mucin-like 1							63.0	76.0	72.0					1																	161681852		2203	4300	6503	SO:0001583	missense	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161681852T>A	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.679T>A	1.37:g.161681852T>A	ENSP00000236938:p.Tyr227Asn					FCRLA_uc001gbd.2_Missense_Mutation_p.Y227N|FCRLA_uc001gbf.2_Missense_Mutation_p.Y138N|FCRLA_uc001gbg.2_Missense_Mutation_p.Y87N|FCRLA_uc009wuo.2_Missense_Mutation_p.Y93N|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	p.Y233N	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		5	939	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		210			Ig-like C2-type 2.		A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	c.697T>A	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.269283	0.59540	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000540521;ENST00000540926;ENST00000367957;ENST00000309691;ENST00000294796;ENST00000367953	T;T;T;T;T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51;2.51	5.81	4.7	0.59300	.	0.000000	0.47093	D	0.000250	T	0.28234	0.0697	M	0.87180	2.865	0.40914	D	0.984256	D;P;D;D;D	0.89917	0.999;0.948;1.0;0.997;0.968	D;P;D;D;P	0.87578	0.982;0.884;0.998;0.954;0.853	T	0.16424	-1.0403	10	0.87932	D	0	.	8.3383	0.32228	0.0:0.0878:0.0:0.9122	.	93;87;138;233;227	F5H720;Q5VXB1;G3V1J2;A6NC03;Q7L513-9	.;.;.;.;.	N	227;233;138;93;216;87;121;76;216	ENSP00000236938:Y227N;ENSP00000356936:Y233N;ENSP00000439838:Y138N;ENSP00000442870:Y93N;ENSP00000446380:Y216N;ENSP00000356934:Y87N;ENSP00000309596:Y121N;ENSP00000294796:Y76N;ENSP00000356930:Y216N	ENSP00000236938:Y227N	Y	+	1	0	FCRLA	159948476	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	1.595000	0.36708	1.043000	0.40175	0.482000	0.46254	TAC		0.562	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		16	112	0	0	0	0.006122	0	16	112				
DDR2	4921	broad.mit.edu	37	1	162724645	162724645	+	Splice_Site	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:162724645G>T	ENST00000367922.3	+	6	855	c.417G>T	c.(415-417)caG>caT	p.Q139H	DDR2_ENST00000367921.3_Splice_Site_p.Q139H	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	139	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Q139H(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	ATGGGAAACAGGTAGGAAGAA	0.493																																					NSCLC(161;314 2006 8283 19651 23192)	NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(415-417)CAG>CAT		discoidin domain receptor family, member 2							75.0	61.0	66.0					1																	162724645		2203	4300	6503	SO:0001630	splice_region_variant	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162724645G>T	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.417+1G>T	1.37:g.162724645G>T						DDR2_uc001gcg.2_Missense_Mutation_p.Q139H	p.Q139H	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		6	882	+	all_hematologic(112;0.115)		139			Extracellular (Potential).|F5/8 type C.		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.417G>T	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846373	0.91277	.	.	ENSG00000162733	ENST00000415555;ENST00000542391;ENST00000367922;ENST00000367921	D;T;T	0.98958	-5.27;1.95;1.95	5.68	5.68	0.88126	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.054894	0.85682	D	0.000000	D	0.98495	0.9498	M	0.62154	1.92	.	.	.	D	0.57899	0.981	P	0.58660	0.843	D	0.98374	1.0555	8	.	.	.	.	18.3487	0.90330	0.0:0.0:1.0:0.0	.	139	Q16832	DDR2_HUMAN	H	139	ENSP00000391310:Q139H;ENSP00000356899:Q139H;ENSP00000356898:Q139H	.	Q	+	3	2	DDR2	160991269	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.540000	0.73861	2.671000	0.90904	0.650000	0.86243	CAG		0.493	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182	Missense_Mutation	10	35	1	0	4.68919e-08	0.008291	6.66887e-08	10	35				
DDR2	4921	broad.mit.edu	37	1	162724952	162724952	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:162724952G>A	ENST00000367922.3	+	7	862	c.424G>A	c.(424-426)Gat>Aat	p.D142N	DDR2_ENST00000367921.3_Missense_Mutation_p.D142N	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	142	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D142N(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TCAGGTGCTGGATGGAAATAG	0.458																																					NSCLC(161;314 2006 8283 19651 23192)	NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(424-426)GAT>AAT		discoidin domain receptor family, member 2							100.0	97.0	98.0					1																	162724952		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162724952G>A	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.424G>A	1.37:g.162724952G>A	ENSP00000356899:p.Asp142Asn					DDR2_uc001gcg.2_Missense_Mutation_p.D142N	p.D142N	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		7	889	+	all_hematologic(112;0.115)		142			Extracellular (Potential).|F5/8 type C.		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.424G>A	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507004	0.64410	.	.	ENSG00000162733	ENST00000415555;ENST00000542391;ENST00000367922;ENST00000367921	D;T;T	0.98221	-4.8;2.01;2.01	5.94	5.94	0.96194	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.094349	0.64402	D	0.000001	D	0.94771	0.8312	L	0.31207	0.915	0.39282	D	0.964588	B	0.28439	0.212	B	0.34385	0.181	D	0.92846	0.6293	9	0.21540	T	0.41	.	18.9296	0.92560	0.0:0.0:1.0:0.0	.	142	Q16832	DDR2_HUMAN	N	142	ENSP00000391310:D142N;ENSP00000356899:D142N;ENSP00000356898:D142N	ENSP00000356898:D142N	D	+	1	0	DDR2	160991576	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.148000	0.64857	2.820000	0.97059	0.650000	0.86243	GAT		0.458	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		13	121	0	0	0	0.00245	0	13	121				
LMX1A	4009	broad.mit.edu	37	1	165182967	165182967	+	Missense_Mutation	SNP	G	G	T	rs149908681		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:165182967G>T	ENST00000342310.3	-	5	962	c.580C>A	c.(580-582)Cgc>Agc	p.R194S	LMX1A_ENST00000367893.4_Missense_Mutation_p.R194S|RP11-38C18.3_ENST00000441773.1_RNA|LMX1A_ENST00000294816.2_Missense_Mutation_p.R194S|LMX1A_ENST00000489443.2_5'Flank|RP11-38C18.2_ENST00000457106.1_RNA	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	194					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|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.R194S(1)|p.R194C(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CGTTTGGGGCGCTTATGGTCC	0.502																																							uc001gcy.1		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(580-582)CGC>AGC		LIM homeobox transcription factor 1, alpha							241.0	218.0	226.0					1																	165182967		2203	4300	6503	SO:0001583	missense	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165182967G>T	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.580C>A	1.37:g.165182967G>T	ENSP00000340226:p.Arg194Ser					LMX1A_uc001gcz.1_Missense_Mutation_p.R194S|LMX1A_uc001gcw.1_5'Flank|LMX1A_uc001gcx.1_5'Flank	p.R194S	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN			4	801	-	all_hematologic(923;0.248)		194					B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	c.580C>A	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402809	0.83230	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.95690	-3.78;-3.78;-3.78	5.64	5.64	0.86602	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.96614	0.8895	L	0.52011	1.625	0.51482	D	0.999924	D	0.89917	1.0	D	0.87578	0.998	D	0.96136	0.9096	9	0.48119	T	0.1	.	19.3003	0.94141	0.0:0.0:1.0:0.0	.	194	Q8TE12	LMX1A_HUMAN	S	194	ENSP00000340226:R194S;ENSP00000294816:R194S;ENSP00000356868:R194S	ENSP00000294816:R194S	R	-	1	0	LMX1A	163449591	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.781000	0.55394	2.637000	0.89404	0.650000	0.86243	CGC		0.502	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		28	262	1	0	1.08312e-15	0.009535	1.86736e-15	28	262				
ALDH9A1	223	broad.mit.edu	37	1	165638193	165638193	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:165638193C>T	ENST00000354775.4	-	8	1481	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N	ALDH9A1_ENST00000538148.1_Missense_Mutation_p.D299N	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	369					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)	p.D369N(1)|p.D393N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TAATATCCATCCTTTAATTTG	0.299																																					Ovarian(179;1583 2014 18106 33801 42447)	Ovarian(179;1583 2014 18106 33801 42447)	uc001gdh.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1177-1179)GAT>AAT		aldehyde dehydrogenase 9A1	NADH(DB00157)						110.0	117.0	115.0					1																	165638193		2203	4300	6503	SO:0001583	missense	223				carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity	g.chr1:165638193C>T	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.1177G>A	1.37:g.165638193C>T	ENSP00000346827:p.Asp393Asn					ALDH9A1_uc010pky.1_Missense_Mutation_p.D299N|ALDH9A1_uc010pkz.1_Missense_Mutation_p.D383N|ALDH9A1_uc010pla.1_Missense_Mutation_p.D299N	p.D393N	NM_000696	NP_000687	P49189	AL9A1_HUMAN			8	1282	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)		369					B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Missense_Mutation	SNP	ENST00000354775.4	37	c.1177G>A	CCDS1250.2	.	.	.	.	.	.	.	.	.	.	C	4.839	0.156007	0.09236	.	.	ENSG00000143149	ENST00000354775;ENST00000538148	D;D	0.90676	-2.71;-2.71	4.78	1.74	0.24563	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.429713	0.26788	N	0.022485	T	0.52725	0.1752	N	0.05534	-0.03	0.22693	N	0.998849	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.002;0.002;0.002	T	0.36890	-0.9729	9	0.02654	T	1	.	5.1098	0.14804	0.0:0.6215:0.1779:0.2006	.	299;383;369;393	B4DYY1;B4DX14;P49189;B9EKV4	.;.;AL9A1_HUMAN;.	N	393;299	ENSP00000346827:D393N;ENSP00000440026:D299N	ENSP00000346827:D393N	D	-	1	0	ALDH9A1	163904817	1.000000	0.71417	0.979000	0.43373	0.917000	0.54804	2.260000	0.43267	0.416000	0.25844	-0.244000	0.11960	GAT		0.299	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083899.1			9	88	0	0	0	0.008291	0	9	88				
GPR161	23432	broad.mit.edu	37	1	168065747	168065747	+	Splice_Site	SNP	T	T	A	rs28679686		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:168065747T>A	ENST00000367838.1	-	5	1411	c.1098A>T	c.(1096-1098)acA>acT	p.T366T	GPR161_ENST00000271357.5_Splice_Site_p.T366T|GPR161_ENST00000367836.1_Splice_Site_p.T234T|GPR161_ENST00000361697.2_Splice_Site_p.T366T|GPR161_ENST00000537209.1_Splice_Site_p.T386T|GPR161_ENST00000546300.1_Splice_Site_p.T252T|GPR161_ENST00000367835.1_Splice_Site_p.T366T|GPR161_ENST00000539777.1_Splice_Site_p.T288T	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	366					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)	p.T366T(1)		breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCAAGTTACCTGTGATCCTGT	0.517																																							uc001gfc.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1096-1098)ACA>ACT		G protein-coupled receptor 161 isoform 2							71.0	70.0	70.0					1																	168065747		2203	4300	6503	SO:0001630	splice_region_variant	23432				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:168065747T>A	AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.1099+1A>T	1.37:g.168065747T>A						GPR161_uc001gfb.2_Silent_p.T234T|GPR161_uc010pll.1_Silent_p.T276T|GPR161_uc010plm.1_Silent_p.T252T|GPR161_uc009wvo.2_Silent_p.T383T|GPR161_uc001gfd.2_Silent_p.T366T|GPR161_uc010pln.1_Silent_p.T386T|GPR161_uc001gfe.1_Silent_p.T366T	p.T366T	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN			5	1412	-	all_hematologic(923;0.215)		366			Cytoplasmic (Potential).		B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Silent	SNP	ENST00000367838.1	37	c.1098A>T	CCDS1268.1																																																																																				0.517	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083829.1	NM_007369	Silent	5	52	0	0	0	0.001168	0	5	52				
PAPPA2	60676	broad.mit.edu	37	1	176668531	176668531	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:176668531T>G	ENST00000367662.3	+	8	4206	c.3042T>G	c.(3040-3042)gaT>gaG	p.D1014E		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1014					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D1014E(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGCACGTGGATGGGAAGGTGT	0.517																																							uc001gkz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(3040-3042)GAT>GAG		pappalysin 2 isoform 1							156.0	160.0	159.0					1																	176668531		2120	4241	6361	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176668531T>G	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.3042T>G	1.37:g.176668531T>G	ENSP00000356634:p.Asp1014Glu					PAPPA2_uc009www.2_RNA	p.D1014E	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			8	4206	+			1014					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.3042T>G	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	6.464	0.453774	0.12283	.	.	ENSG00000116183	ENST00000367662	T	0.41065	1.01	5.38	-5.59	0.02505	Fibronectin, type III (2);	0.780519	0.12914	N	0.428729	T	0.16342	0.0393	N	0.16903	0.455	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.13308	-1.0514	10	0.29301	T	0.29	-4.8845	0.1698	0.00112	0.2806:0.1872:0.1765:0.3557	.	1014	Q9BXP8	PAPP2_HUMAN	E	1014	ENSP00000356634:D1014E	ENSP00000356634:D1014E	D	+	3	2	PAPPA2	174935154	0.000000	0.05858	0.215000	0.23724	0.928000	0.56348	-1.221000	0.02968	-0.741000	0.04797	-0.274000	0.10170	GAT		0.517	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			27	152	0	0	0	0.004656	0	27	152				
RGS8	85397	broad.mit.edu	37	1	182635138	182635138	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:182635138C>A	ENST00000483095.2	-	5	416	c.159G>T	c.(157-159)tgG>tgT	p.W53C	RGS8_ENST00000367556.1_Missense_Mutation_p.W53C|RGS8_ENST00000258302.4_Missense_Mutation_p.W71C|RGS8_ENST00000491420.2_5'UTR|RGS8_ENST00000367557.4_Missense_Mutation_p.W53C			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	53					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.W53C(1)|p.W71C(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						AGGAATCTGCCCACCTCGTAG	0.398																																					Ovarian(189;1262 3804 41973)	Ovarian(189;1262 3804 41973)	uc010pnw.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(157-159)TGG>TGT		regulator of G-protein signalling 8 isoform 2							169.0	169.0	169.0					1																	182635138		2203	4300	6503	SO:0001583	missense	85397				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:182635138C>A	AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"""Regulators of G-protein signaling"""	16810	protein-coding gene	gene with protein product		607189	"""regulator of G-protein signalling 8"""			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.159G>T	1.37:g.182635138C>A	ENSP00000426289:p.Trp53Cys					RGS8_uc001gpn.1_Missense_Mutation_p.W53C|RGS8_uc001gpm.1_Missense_Mutation_p.W71C	p.W53C	NM_001102450	NP_001095920	P57771	RGS8_HUMAN			5	417	-			53					B4DGL9|Q3SYD2	Missense_Mutation	SNP	ENST00000483095.2	37	c.159G>T	CCDS41443.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881638	0.72294	.	.	ENSG00000135824	ENST00000483095;ENST00000258302;ENST00000367557;ENST00000367556;ENST00000508450	T;T;T;T	0.35605	1.3;1.3;1.3;1.3	5.47	5.47	0.80525	Regulator of G protein signalling (1);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.62417	0.2426	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66316	-0.5954	10	0.87932	D	0	.	16.2314	0.82344	0.0:1.0:0.0:0.0	.	53;71	P57771;P57771-2	RGS8_HUMAN;.	C	53;71;53;53;53	ENSP00000426289:W53C;ENSP00000258302:W71C;ENSP00000356528:W53C;ENSP00000356527:W53C	ENSP00000258302:W71C	W	-	3	0	RGS8	180901761	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.720000	0.61944	2.561000	0.86390	0.655000	0.94253	TGG		0.398	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358979.1	NM_033345		36	101	1	0	5.8336e-16	0.003271	1.01051e-15	36	101				
HMCN1	83872	broad.mit.edu	37	1	186077635	186077635	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:186077635C>T	ENST00000271588.4	+	71	11124	c.10895C>T	c.(10894-10896)aCt>aTt	p.T3632I	HMCN1_ENST00000367492.2_Missense_Mutation_p.T3632I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3632	Ig-like C2-type 35.				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.T3632I(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						CGGGATATCACTGTGTTACGG	0.423																																							uc001grq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(10894-10896)ACT>ATT		hemicentin 1 precursor							122.0	109.0	114.0					1																	186077635		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186077635C>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.10895C>T	1.37:g.186077635C>T	ENSP00000271588:p.Thr3632Ile						p.T3632I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			71	11124	+			3632			Ig-like C2-type 35.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.10895C>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.498131	0.64186	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68331	-0.32;-0.32	5.87	3.97	0.46021	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.140613	0.64402	D	0.000003	T	0.73289	0.3568	L	0.42581	1.335	0.40263	D	0.978208	D	0.89917	1.0	D	0.87578	0.998	T	0.71984	-0.4427	10	0.40728	T	0.16	.	10.9822	0.47501	0.0:0.6908:0.2435:0.0657	.	3632	Q96RW7	HMCN1_HUMAN	I	3632	ENSP00000271588:T3632I;ENSP00000356462:T3632I	ENSP00000271588:T3632I	T	+	2	0	HMCN1	184344258	0.992000	0.36948	0.809000	0.32408	0.757000	0.42996	2.946000	0.49050	0.910000	0.36722	0.655000	0.94253	ACT		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		32	79	0	0	0	0.002836	0	32	79				
TPR	7175	broad.mit.edu	37	1	186322924	186322925	+	Missense_Mutation	DNP	CA	CA	TT			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:186322924_186322925CA>TT	ENST00000367478.4	-	18	2525_2526	c.2229_2230TG>AA	c.(2227-2232)caTGag>caAAag	p.743_744HE>QK	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	743					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.H744_E745>QK(1)|p.H743_E744>QK(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGATTTCTCTCATGAAGTGATG	0.361			T	NTRK1	papillary thyroid																																		uc001grv.2		NA		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Complex - compound substitution(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(2227-2232)CATGAG>CAAAAG		nuclear pore complex-associated protein TPR																																				SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186322924_186322925CA>TT	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.2229_2230delinsTT	1.37:g.186322924_186322925delinsTT	ENSP00000356448:p.H743_E744delinsQK						p.743_744HE>QK	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	18	2526_2527	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	743_744			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	DNP	ENST00000367478.4	37	c.2229_2230TG>AA	CCDS41446.1																																																																																				0.361	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		4	121	0	0	0	0.004672	0	4	121				
CHIT1	1118	broad.mit.edu	37	1	203186156	203186156	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:203186156T>A	ENST00000367229.1	-	11	1296	c.1262A>T	c.(1261-1263)cAg>cTg	p.Q421L	CHIT1_ENST00000535569.1_Missense_Mutation_p.Q412L|CHIT1_ENST00000255427.3_Missense_Mutation_p.Q402L|CHIT1_ENST00000484834.1_Intron	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	421	Chitin-binding type-2. {ECO:0000255|PROSITE-ProRule:PRU00144}.				chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.Q421L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						AGCTTTGCCCTGGCAGAACGT	0.602											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001gzn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1261-1263)CAG>CTG		chitotriosidase precursor							91.0	93.0	92.0					1																	203186156		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203186156T>A	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1262A>T	1.37:g.203186156T>A	ENSP00000356198:p.Gln421Leu		OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2135	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Missense_Mutation_p.Q183L|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.Q412L	p.Q421L	NM_003465	NP_003456	Q13231	CHIT1_HUMAN			11	1358	-			421			Chitin-binding type-2.		B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.1262A>T	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.314508	0.23908	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.30714	1.52;1.52;1.52	4.95	1.11	0.20524	Chitin binding domain (5);	1.262240	0.05748	N	0.602631	T	0.19644	0.0472	N	0.14661	0.345	0.24118	N	0.995814	B;B;P	0.35226	0.435;0.01;0.491	B;B;B	0.37780	0.117;0.01;0.258	T	0.27400	-1.0075	10	0.46703	T	0.11	-7.2182	4.3338	0.11076	0.0:0.1879:0.2954:0.5167	.	392;412;421	Q13231-3;G5EA51;Q13231	.;.;CHIT1_HUMAN	L	421;402;412	ENSP00000356198:Q421L;ENSP00000255427:Q402L;ENSP00000438078:Q412L	ENSP00000255427:Q402L	Q	-	2	0	CHIT1	201452779	0.000000	0.05858	0.990000	0.47175	0.369000	0.29798	-0.454000	0.06770	0.255000	0.21593	0.528000	0.53228	CAG		0.602	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		17	81	0	0	0	0.006122	0	17	81				
NEK2	4751	broad.mit.edu	37	1	211848791	211848791	+	Silent	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:211848791A>G	ENST00000366999.4	-	1	169	c.31T>C	c.(31-33)Ttg>Ctg	p.L11L	NEK2_ENST00000366998.3_Silent_p.L11L|RP11-122M14.1_ENST00000415202.1_RNA|NEK2_ENST00000540251.1_Intron	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	11	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.L11L(1)		breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		ATGGTGTACAACACTTCATAG	0.652																																							uc001hir.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)|stomach(1)	3						c.(31-33)TTG>CTG		NIMA-related kinase 2							72.0	72.0	72.0					1																	211848791		2203	4300	6503	SO:0001819	synonymous_variant	4751				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity	g.chr1:211848791A>G	U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"""HsPK 21"", ""protein phosphatase 1, regulatory subunit 111"""	604043	"""NIMA (never in mitosis gene a)-related kinase 2"""			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.31T>C	1.37:g.211848791A>G						NEK2_uc001hiq.1_Silent_p.L11L|NEK2_uc001his.3_Silent_p.L11L|NEK2_uc001hit.1_RNA	p.L11L	NM_002497	NP_002488	P51955	NEK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)	1	177	-			11			Protein kinase.		Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Silent	SNP	ENST00000366999.4	37	c.31T>C	CCDS1500.1																																																																																				0.652	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090154.1	NM_002497		21	72	0	0	0	0.001882	0	21	72				
USH2A	7399	broad.mit.edu	37	1	215802171	215802171	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:215802171G>T	ENST00000307340.3	-	71	15890	c.15504C>A	c.(15502-15504)ggC>ggA	p.G5168G	SNORD116_ENST00000365628.1_RNA|USH2A_ENST00000366943.2_Silent_p.G5192G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5168					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.G5168G(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)		CACTGTTGTGGCCCATGATGG	0.493										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(15502-15504)GGC>GGA		usherin isoform B							95.0	98.0	97.0					1																	215802171		2203	4300	6503	SO:0001819	synonymous_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.chr1:215802171G>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.15504C>A	1.37:g.215802171G>T		HNSCC(13;0.011)					p.G5168G	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	71	15891	-			5168			Cytoplasmic (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.15504C>A	CCDS31025.1																																																																																				0.493	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		36	71	1	0	6.70999e-13	0.004289	1.10722e-12	36	71				
USH2A	7399	broad.mit.edu	37	1	216173810	216173810	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:216173810C>A	ENST00000307340.3	-	33	6806	c.6420G>T	c.(6418-6420)caG>caT	p.Q2140H	USH2A_ENST00000366943.2_Missense_Mutation_p.Q2140H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2140	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.Q2140H(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)		CTGGTGGCAGCTGTGCTGTGT	0.463										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.(6418-6420)CAG>CAT		usherin isoform B							123.0	108.0	113.0					1																	216173810		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.chr1:216173810C>A	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.6420G>T	1.37:g.216173810C>A	ENSP00000305941:p.Gln2140His	HNSCC(13;0.011)					p.Q2140H	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	33	6807	-			2140			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6420G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648944	0.67358	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55052	0.54;0.54	5.9	4.04	0.47022	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.42821	D	0.000649	T	0.69708	0.3141	M	0.75447	2.3	0.43942	D	0.996605	D	0.89917	1.0	D	0.83275	0.996	T	0.71384	-0.4609	10	0.72032	D	0.01	.	10.7568	0.46241	0.0:0.7967:0.0:0.2033	.	2140	O75445	USH2A_HUMAN	H	2140	ENSP00000305941:Q2140H;ENSP00000355910:Q2140H	ENSP00000305941:Q2140H	Q	-	3	2	USH2A	214240433	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.650000	0.54424	0.850000	0.35239	-0.157000	0.13467	CAG		0.463	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		11	59	1	0	0.000673444	0.008291	0.000783897	11	59				
USH2A	7399	broad.mit.edu	37	1	216405371	216405371	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:216405371G>C	ENST00000307340.3	-	14	3303	c.2917C>G	c.(2917-2919)Caa>Gaa	p.Q973E	USH2A_ENST00000366942.3_Missense_Mutation_p.Q973E|USH2A_ENST00000366943.2_Missense_Mutation_p.Q973E	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	973	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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.Q973E(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)		GAAGCATCTTGGCAAACACAC	0.443										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.(2917-2919)CAA>GAA		usherin isoform B							147.0	133.0	138.0					1																	216405371		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.chr1:216405371G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2917C>G	1.37:g.216405371G>C	ENSP00000305941:p.Gln973Glu	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.Q973E	p.Q973E	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	14	3304	-			973			Extracellular (Potential).|Laminin EGF-like 9.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.2917C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041844	0.35989	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.61392	0.11;0.11;0.11	5.7	3.7	0.42460	EGF-like, laminin (3);	0.330328	0.21680	N	0.070723	T	0.63546	0.2520	M	0.87038	2.855	0.26100	N	0.980837	B;B	0.14012	0.001;0.009	B;B	0.16289	0.005;0.015	T	0.61926	-0.6962	10	0.59425	D	0.04	.	14.4532	0.67399	0.0:0.0:0.7317:0.2683	.	973;973	O75445-2;O75445	.;USH2A_HUMAN	E	973	ENSP00000305941:Q973E;ENSP00000355910:Q973E;ENSP00000355909:Q973E	ENSP00000305941:Q973E	Q	-	1	0	USH2A	214471994	1.000000	0.71417	0.924000	0.36721	0.733000	0.41908	3.928000	0.56506	1.377000	0.46286	0.650000	0.86243	CAA		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		12	122	0	0	0	0.001855	0	12	122				
USH2A	7399	broad.mit.edu	37	1	216420237	216420237	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:216420237G>T	ENST00000307340.3	-	13	2885	c.2499C>A	c.(2497-2499)aaC>aaA	p.N833K	USH2A_ENST00000366942.3_Missense_Mutation_p.N833K|USH2A_ENST00000366943.2_Missense_Mutation_p.N833K	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	833	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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.N833K(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)		GTAGGTAGAAGTTTCCCTCCA	0.463										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.(2497-2499)AAC>AAA		usherin isoform B							157.0	151.0	153.0					1																	216420237		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.chr1:216420237G>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.2499C>A	1.37:g.216420237G>T	ENSP00000305941:p.Asn833Lys	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.N833K	p.N833K	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	13	2886	-			833			Extracellular (Potential).|Laminin EGF-like 6.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.2499C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	5.964	0.361811	0.11296	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.60920	0.15;0.15;0.15	5.91	2.97	0.34412	EGF-like, laminin (3);	0.183751	0.26224	N	0.025612	T	0.36552	0.0971	N	0.10972	0.075	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.31641	-0.9936	10	0.72032	D	0.01	.	10.1727	0.42920	0.2154:0.0:0.7846:0.0	.	833;833	O75445-2;O75445	.;USH2A_HUMAN	K	833	ENSP00000305941:N833K;ENSP00000355910:N833K;ENSP00000355909:N833K	ENSP00000305941:N833K	N	-	3	2	USH2A	214486860	0.999000	0.42202	0.002000	0.10522	0.006000	0.05464	1.595000	0.36708	0.357000	0.24183	0.655000	0.94253	AAC		0.463	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		16	116	1	0	4.7546e-09	0.004007	7.04993e-09	16	116				
EXOC8	149371	broad.mit.edu	37	1	231472329	231472329	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:231472329C>T	ENST00000360394.2	-	1	1249	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000295050.7_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.R384Q	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	388					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R388Q(1)		cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AGTGAGCTGTCGAACTCGCTC	0.532																																							uc001huq.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1162-1164)CGA>CAA		exocyst complex 84-kDa subunit							62.0	62.0	62.0					1																	231472329		2203	4300	6503	SO:0001583	missense	149371				exocytosis|protein transport	growth cone|nucleus	protein binding	g.chr1:231472329C>T	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1163G>A	1.37:g.231472329C>T	ENSP00000353564:p.Arg388Gln						p.R388Q	NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN			1	1250	-	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	388					B3KU33|Q5TE82	Missense_Mutation	SNP	ENST00000360394.2	37	c.1163G>A	CCDS1593.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685362	0.47991	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.75367	-0.93;-0.93	5.66	5.66	0.87406	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75354	0.3838	M	0.64997	1.995	0.58432	D	0.999999	D	0.57899	0.981	P	0.47603	0.551	T	0.71803	-0.4482	10	0.07813	T	0.8	-12.4317	19.7362	0.96205	0.0:1.0:0.0:0.0	.	388	Q8IYI6	EXOC8_HUMAN	Q	388;384	ENSP00000353564:R388Q;ENSP00000355605:R384Q	ENSP00000353564:R388Q	R	-	2	0	EXOC8	229538952	0.999000	0.42202	0.112000	0.21494	0.659000	0.38960	6.086000	0.71352	2.661000	0.90470	0.655000	0.94253	CGA		0.532	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		6	54	0	0	0	0.001168	0	6	54				
ACTN2	88	broad.mit.edu	37	1	236881160	236881160	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:236881160C>A	ENST00000366578.4	+	2	295	c.129C>A	c.(127-129)acC>acA	p.T43T	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Silent_p.T43T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	43	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.T43T(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CTTTGCAGACCTTCACTGCCT	0.493																																							uc001hyf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(127-129)ACC>ACA		actinin, alpha 2							132.0	112.0	119.0					1																	236881160		2203	4300	6503	SO:0001819	synonymous_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236881160C>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.129C>A	1.37:g.236881160C>A						ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Silent_p.T43T	p.T43T	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		2	333	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	43			CH 1.|Actin-binding.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	c.129C>A	CCDS1613.1																																																																																				0.493	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		6	16	1	0	0.00198382	0.001984	0.00223792	6	16				
RYR2	6262	broad.mit.edu	37	1	237620007	237620007	+	Silent	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:237620007C>G	ENST00000366574.2	+	16	1901	c.1584C>G	c.(1582-1584)tcC>tcG	p.S528S	RYR2_ENST00000542537.1_Silent_p.S512S|RYR2_ENST00000360064.6_Silent_p.S526S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	528					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.S526S(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)			CTTGGAAATCCATTCTGAATT	0.443																																							uc001hyl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1582-1584)TCC>TCG		cardiac muscle ryanodine receptor							165.0	164.0	164.0					1																	237620007		1924	4137	6061	SO:0001819	synonymous_variant	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.chr1:237620007C>G	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.1584C>G	1.37:g.237620007C>G							p.S528S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		16	1704	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	528			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.1584C>G	CCDS55691.1																																																																																				0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		15	87	0	0	0	0.00245	0	15	87				
RYR2	6262	broad.mit.edu	37	1	237664013	237664013	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:237664013T>A	ENST00000366574.2	+	21	2523	c.2206T>A	c.(2206-2208)Tgt>Agt	p.C736S	RYR2_ENST00000542537.1_Missense_Mutation_p.C720S|RYR2_ENST00000360064.6_Missense_Mutation_p.C734S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	736	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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.C734S(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)			CCCAATAGGTTGTATTGCTCG	0.398																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(2206-2208)TGT>AGT		cardiac muscle ryanodine receptor							268.0	253.0	257.0					1																	237664013		1886	4119	6005	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.chr1:237664013T>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.2206T>A	1.37:g.237664013T>A	ENSP00000355533:p.Cys736Ser						p.C736S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		21	2326	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	736			Cytoplasmic (By similarity).|B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2206T>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	10.30	1.312958	0.23908	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.67345	-0.26;-0.26;-0.26	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000002	T	0.38931	0.1059	N	0.04297	-0.235	0.80722	D	1	P	0.35807	0.522	B	0.33392	0.163	T	0.44862	-0.9300	10	0.08599	T	0.76	.	11.0952	0.48141	0.138:0.0:0.0:0.862	.	736	Q92736	RYR2_HUMAN	S	736;734;720	ENSP00000355533:C736S;ENSP00000353174:C734S;ENSP00000443798:C720S	ENSP00000353174:C734S	C	+	1	0	RYR2	235730636	0.999000	0.42202	1.000000	0.80357	0.933000	0.57130	2.677000	0.46892	2.165000	0.68154	0.528000	0.53228	TGT		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		69	274	0	0	0	0.00361	0	69	274				
RYR2	6262	broad.mit.edu	37	1	237806676	237806676	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:237806676G>C	ENST00000366574.2	+	48	7588	c.7271G>C	c.(7270-7272)aGa>aCa	p.R2424T	RYR2_ENST00000542537.1_Missense_Mutation_p.R2408T|RYR2_ENST00000360064.6_Missense_Mutation_p.R2422T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2424	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R2422T(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)			TCCATTTTGAGATCCCTCATT	0.423																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7270-7272)AGA>ACA		cardiac muscle ryanodine receptor							205.0	194.0	197.0					1																	237806676		1884	4105	5989	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.chr1:237806676G>C	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.7271G>C	1.37:g.237806676G>C	ENSP00000355533:p.Arg2424Thr						p.R2424T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		48	7391	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2424			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7271G>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970795	0.92919	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97888	-4.59;-4.59;-4.59	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000002	D	0.98801	0.9596	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99771	1.1024	10	0.87932	D	0	.	19.5422	0.95278	0.0:0.0:1.0:0.0	.	2424	Q92736	RYR2_HUMAN	T	2424;2422;2408	ENSP00000355533:R2424T;ENSP00000353174:R2422T;ENSP00000443798:R2408T	ENSP00000353174:R2422T	R	+	2	0	RYR2	235873299	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.813000	0.99286	2.703000	0.92315	0.655000	0.94253	AGA		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		18	141	0	0	0	0.001882	0	18	141				
RYR2	6262	broad.mit.edu	37	1	237817625	237817625	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:237817625G>T	ENST00000366574.2	+	52	8193	c.7876G>T	c.(7876-7878)Ggg>Tgg	p.G2626W	RYR2_ENST00000542537.1_Missense_Mutation_p.G2610W|RYR2_ENST00000360064.6_Missense_Mutation_p.G2624W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2626	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G2624W(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)			CCTGCCTGGAGGGTGGGGAAA	0.383																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(7876-7878)GGG>TGG		cardiac muscle ryanodine receptor							92.0	92.0	92.0					1																	237817625		1845	4093	5938	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.chr1:237817625G>T	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.7876G>T	1.37:g.237817625G>T	ENSP00000355533:p.Gly2626Trp						p.G2626W	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		52	7996	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2626			Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.7876G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361892	0.82353	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.93189	-3.18;-3.18;-3.18	5.77	4.86	0.63082	.	0.000000	0.64402	D	0.000004	D	0.96546	0.8873	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97130	0.9817	10	0.87932	D	0	-14.4797	14.8881	0.70584	0.0686:0.0:0.9314:0.0	.	2626	Q92736	RYR2_HUMAN	W	2626;2624;2610	ENSP00000355533:G2626W;ENSP00000353174:G2624W;ENSP00000443798:G2610W	ENSP00000353174:G2624W	G	+	1	0	RYR2	235884248	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	9.695000	0.98691	1.586000	0.49944	0.585000	0.79938	GGG		0.383	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		12	66	1	0	4.36969e-10	0.001855	6.7106e-10	12	66				
CHRM3	1131	broad.mit.edu	37	1	240072465	240072465	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:240072465C>A	ENST00000255380.4	+	5	2493	c.1714C>A	c.(1714-1716)Cag>Aag	p.Q572K		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	572					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.Q572K(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCGCAAGCAGCAGTACCAGCA	0.493																																							uc001hyp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1714-1716)CAG>AAG		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						49.0	49.0	49.0					1																	240072465		2203	4300	6503	SO:0001583	missense	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072465C>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1714C>A	1.37:g.240072465C>A	ENSP00000255380:p.Gln572Lys						p.Q572K	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2493	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	572			Cytoplasmic (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	37	c.1714C>A	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	9.295	1.051657	0.19827	.	.	ENSG00000133019	ENST00000255380	T	0.36878	1.23	5.58	5.58	0.84498	.	0.151447	0.49305	D	0.000152	T	0.27419	0.0673	L	0.40543	1.245	0.53005	D	0.999967	P	0.39480	0.675	B	0.33960	0.173	T	0.13335	-1.0513	10	0.02654	T	1	-14.5673	19.5758	0.95444	0.0:1.0:0.0:0.0	.	572	P20309	ACM3_HUMAN	K	572	ENSP00000255380:Q572K	ENSP00000255380:Q572K	Q	+	1	0	CHRM3	238139088	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.950000	0.70265	2.632000	0.89209	0.655000	0.94253	CAG		0.493	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		8	50	1	0	2.17888e-05	0.006214	2.81406e-05	8	50				
AKT3	10000	broad.mit.edu	37	1	243736348	243736348	+	Silent	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:243736348C>G	ENST00000366539.1	-	9	899	c.699G>C	c.(697-699)ctG>ctC	p.L233L	AKT3_ENST00000366540.1_Silent_p.L233L|AKT3_ENST00000263826.5_Silent_p.L233L|AKT3_ENST00000336199.5_Silent_p.L233L			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L233L(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			AATGGAAAAACAGCTGCAGGG	0.433																																							uc001iab.1		NA																	3	Substitution - coding silent(3)		lung(3)	stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(697-699)CTG>CTC		AKT3 kinase isoform 1							59.0	60.0	60.0					1																	243736348		2203	4300	6503	SO:0001819	synonymous_variant	10000				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:243736348C>G	AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.699G>C	1.37:g.243736348C>G						AKT3_uc001hzz.1_Silent_p.L233L	p.L233L	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)		8	780	-	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	233			Protein kinase.		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Silent	SNP	ENST00000366539.1	37	c.699G>C	CCDS31077.1																																																																																				0.433	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096479.1	NM_181690		3	51	0	0	0	0.004672	0	3	51				
OR2L2	26246	broad.mit.edu	37	1	248202135	248202135	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:248202135C>A	ENST00000366479.2	+	1	662	c.566C>A	c.(565-567)aCa>aAa	p.T189K	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T189K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CTAGCCTGCACAGACACTTGG	0.458																																							uc001idw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(565-567)ACA>AAA		olfactory receptor, family 2, subfamily L,							281.0	245.0	257.0					1																	248202135		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202135C>A	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.566C>A	1.37:g.248202135C>A	ENSP00000355435:p.Thr189Lys					OR2L13_uc001ids.2_Intron	p.T189K	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	662	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		189			Extracellular (Potential).		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.566C>A	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	1.879	-0.458323	0.04508	.	.	ENSG00000203663	ENST00000366479	T	0.00158	8.65	1.9	-0.847	0.10730	GPCR, rhodopsin-like superfamily (1);	0.693744	0.11773	U	0.530965	T	0.00144	0.0004	L	0.42632	1.34	0.09310	N	1	B	0.23990	0.095	B	0.29440	0.102	T	0.08743	-1.0707	10	0.49607	T	0.09	.	7.5786	0.27950	0.0:0.6813:0.0:0.3187	.	189	Q8NH16	OR2L2_HUMAN	K	189	ENSP00000355435:T189K	ENSP00000355435:T189K	T	+	2	0	OR2L2	246268758	0.000000	0.05858	0.042000	0.18584	0.055000	0.15305	-0.272000	0.08560	-0.050000	0.13356	0.194000	0.17425	ACA		0.458	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		34	216	1	0	3.62531e-18	0.004289	6.37043e-18	34	216				
OR2L13	284521	broad.mit.edu	37	1	248263100	248263100	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:248263100G>T	ENST00000358120.2	+	2	568	c.423G>T	c.(421-423)gtG>gtT	p.V141V	OR2L13_ENST00000366478.2_Silent_p.V141V			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V141V(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGATGTGTGTGAAGATGATTG	0.493																																							uc001ids.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(421-423)GTG>GTT		olfactory receptor, family 2, subfamily L,							248.0	222.0	231.0					1																	248263100		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263100G>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.423G>T	1.37:g.248263100G>T							p.V141V	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	760	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		141			Helical; Name=4; (Potential).		Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.423G>T	CCDS1637.1																																																																																				0.493	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		45	185	1	0	7.88023e-25	0.00361	1.42585e-24	45	185				
OR2M1P	388762	broad.mit.edu	37	1	248285550	248285550	+	IGR	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:248285550C>T								OR2L13 (21326 upstream) : OR2M5 (22899 downstream)																							TTCTGTGTATCACTGCTTGGC	0.463																																							uc001idy.1		NA																	0					0						c.(112-114)TCA>TTA		RecName: Full=Olfactory receptor 2M5;																																				SO:0001628	intergenic_variant	388762							g.chr1:248285550C>T																													1.37:g.248285550C>T							p.S38L	NR_002141						1	113	+									Missense_Mutation	SNP		37	c.113C>T																																																																																				0	0.463									23	216	0	0	0	0.00333	0	23	216				
OR2M3	127062	broad.mit.edu	37	1	248367167	248367167	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:248367167C>A	ENST00000456743.1	+	1	836	c.798C>A	c.(796-798)cgC>cgA	p.R266R		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R266R(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATCTGATCGCTCCCCAACAC	0.502																																							uc010pzg.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(796-798)CGC>CGA		olfactory receptor, family 2, subfamily M,							183.0	167.0	172.0					1																	248367167		2203	4300	6503	SO:0001819	synonymous_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248367167C>A		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.798C>A	1.37:g.248367167C>A							p.R266R	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	798	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		266			Extracellular (Potential).		B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	37	c.798C>A	CCDS31107.1																																																																																				0.502	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		17	154	1	0	5.35267e-07	0.007413	7.3966e-07	17	154				
DIP2C	22982	broad.mit.edu	37	10	465069	465069	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:465069C>G	ENST00000280886.6	-	6	762	c.675G>C	c.(673-675)caG>caC	p.Q225H	DIP2C_ENST00000381496.3_Missense_Mutation_p.Q118H	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	225						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.Q225H(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCGTGGAACCCTGCGGTCTCT	0.532																																							uc001ifp.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(2)|large_intestine(1)	7						c.(673-675)CAG>CAC		DIP2 disco-interacting protein 2 homolog C							135.0	125.0	128.0					10																	465069		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:465069C>G	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.675G>C	10.37:g.465069C>G	ENSP00000280886:p.Gln225His						p.Q225H	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	6	765	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	225					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.675G>C	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	10.86	1.470160	0.26423	.	.	ENSG00000151240	ENST00000280886;ENST00000381496	T;T	0.32515	1.87;1.45	6.08	0.843	0.18935	.	0.188184	0.47093	D	0.000242	T	0.23289	0.0563	L	0.54323	1.7	0.39667	D	0.970702	B	0.06786	0.001	B	0.04013	0.001	T	0.15723	-1.0427	10	0.11794	T	0.64	-23.6242	9.4973	0.38995	0.0:0.4868:0.0:0.5132	.	225	Q9Y2E4	DIP2C_HUMAN	H	225;118	ENSP00000280886:Q225H;ENSP00000370907:Q118H	ENSP00000280886:Q225H	Q	-	3	2	DIP2C	455069	0.817000	0.29147	0.982000	0.44146	0.071000	0.16799	0.110000	0.15437	-0.066000	0.12998	0.591000	0.81541	CAG		0.532	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		10	77	0	0	0	0.001368	0	10	77				
CAMK1D	57118	broad.mit.edu	37	10	12870807	12870807	+	Missense_Mutation	SNP	C	C	T	rs148446769		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:12870807C>T	ENST00000378847.3	+	11	1416	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L		NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	360	Ser-rich.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.S360L(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		ATTTCTTCTTCGTCGGGGGTC	0.592																																							uc001ilo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|stomach(1)	2						c.(1078-1080)TCG>TTG		calcium/calmodulin-dependent protein kinase ID		C	LEU/SER	1,4405	2.1+/-5.4	0,1,2202	73.0	71.0	72.0		1079	5.7	0.6	10	dbSNP_134	72	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CAMK1D	NM_153498.2	145	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	360/386	12870807	3,13003	2203	4300	6503	SO:0001583	missense	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12870807C>T	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.1079C>T	10.37:g.12870807C>T	ENSP00000368124:p.Ser360Leu						p.S360L	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	11	1314	+			360			Ser-rich.		B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.1079C>T	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562005	0.65538	2.27E-4	2.33E-4	ENSG00000183049	ENST00000378847	T	0.68903	-0.36	5.66	5.66	0.87406	.	0.217739	0.40469	N	0.001098	T	0.53948	0.1828	N	0.22421	0.69	0.80722	D	1	B	0.20261	0.043	B	0.12837	0.008	T	0.47156	-0.9139	10	0.27785	T	0.31	-2.1132	16.8885	0.86081	0.0:1.0:0.0:0.0	.	360	Q8IU85	KCC1D_HUMAN	L	360	ENSP00000368124:S360L	ENSP00000368124:S360L	S	+	2	0	CAMK1D	12910813	1.000000	0.71417	0.639000	0.29394	0.965000	0.64279	5.673000	0.68109	2.652000	0.90054	0.655000	0.94253	TCG		0.592	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		6	53	0	0	0	0.004482	0	6	53				
ARMC4	55130	broad.mit.edu	37	10	28228927	28228927	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:28228927G>A	ENST00000305242.5	-	14	2088	c.1996C>T	c.(1996-1998)Cgg>Tgg	p.R666W	ARMC4_ENST00000537576.1_Missense_Mutation_p.R358W|ARMC4_ENST00000545014.1_Missense_Mutation_p.R191W	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	666					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R666W(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATTGCAGCCCGGTAGTTTTCC	0.373																																							uc009xky.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1996-1998)CGG>TGG		armadillo repeat containing 4							89.0	85.0	87.0					10																	28228927		2203	4300	6503	SO:0001583	missense	55130						binding	g.chr10:28228927G>A	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1996C>T	10.37:g.28228927G>A	ENSP00000306410:p.Arg666Trp					ARMC4_uc010qds.1_Missense_Mutation_p.R191W|ARMC4_uc010qdt.1_Missense_Mutation_p.R358W|ARMC4_uc001itz.2_Missense_Mutation_p.R666W	p.R666W	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			14	2094	-			666			ARM 4.		A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.1996C>T	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825194	0.71143	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000545014	D;D;D	0.94576	-3.46;-3.46;-3.46	5.62	3.65	0.41850	Armadillo-like helical (1);Armadillo-type fold (2);	0.090702	0.85682	D	0.000000	D	0.97005	0.9022	M	0.90252	3.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96563	0.9417	10	0.87932	D	0	-14.9937	7.1853	0.25797	0.084:0.0:0.6396:0.2764	.	191;666	B7Z7I1;Q5T2S8	.;ARMC4_HUMAN	W	358;666;191	ENSP00000443208:R358W;ENSP00000306410:R666W;ENSP00000441076:R191W	ENSP00000306410:R666W	R	-	1	2	ARMC4	28268933	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	5.339000	0.65953	1.513000	0.48852	0.655000	0.94253	CGG		0.373	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076		5	38	0	0	0	0.000602	0	5	38				
BAMBI	25805	broad.mit.edu	37	10	28970327	28970327	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:28970327C>T	ENST00000375533.3	+	2	773	c.217C>T	c.(217-219)Ctt>Ttt	p.L73F		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	73					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)	p.L73F(1)		central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						CCTGGACTCTCTTGCAAGCAC	0.498																																							uc001iuj.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)	4						c.(217-219)CTT>TTT		BMP and activin membrane-bound inhibitor							118.0	112.0	114.0					10																	28970327		2203	4300	6503	SO:0001583	missense	25805				cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	g.chr10:28970327C>T	U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"""BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"""			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.217C>T	10.37:g.28970327C>T	ENSP00000364683:p.Leu73Phe					BAMBI_uc001iui.2_Missense_Mutation_p.L73F	p.L73F	NM_012342	NP_036474	Q13145	BAMBI_HUMAN			2	620	+			73			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000375533.3	37	c.217C>T	CCDS7162.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592451	0.28357	.	.	ENSG00000095739	ENST00000375533	D	0.90444	-2.67	5.65	2.48	0.30137	.	0.414862	0.26753	N	0.022665	D	0.83317	0.5228	L	0.43152	1.355	0.39282	D	0.964573	B;B	0.14012	0.0;0.009	B;B	0.14578	0.004;0.011	T	0.75637	-0.3249	10	0.21540	T	0.41	-7.6899	6.6958	0.23197	0.1609:0.6481:0.1117:0.0793	.	73;73	Q13145;Q53G66	BAMBI_HUMAN;.	F	73	ENSP00000364683:L73F	ENSP00000364683:L73F	L	+	1	0	BAMBI	29010333	0.761000	0.28439	0.881000	0.34555	0.993000	0.82548	0.146000	0.16180	1.360000	0.45960	0.655000	0.94253	CTT		0.498	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342		14	55	0	0	0	0.004007	0	14	55				
BMS1	9790	broad.mit.edu	37	10	43318582	43318582	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:43318582C>T	ENST00000374518.5	+	20	3212	c.3149C>T	c.(3148-3150)gCc>gTc	p.A1050V		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1050					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.A1050V(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						TTTAATTCTGCCTTGGAAGTG	0.413																																							uc001jaj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(3148-3150)GCC>GTC		BMS1-like, ribosome assembly protein							76.0	83.0	81.0					10																	43318582		2203	4299	6502	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43318582C>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.3149C>T	10.37:g.43318582C>T	ENSP00000363642:p.Ala1050Val						p.A1050V	NM_014753	NP_055568	Q14692	BMS1_HUMAN			20	3507	+			1050					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.3149C>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466447	0.63625	.	.	ENSG00000165733	ENST00000374518	T	0.18016	2.24	4.54	4.54	0.55810	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.227935	0.36893	N	0.002352	T	0.16938	0.0407	L	0.35723	1.085	0.31492	N	0.665919	P	0.51537	0.946	P	0.48952	0.596	T	0.04467	-1.0949	10	0.29301	T	0.29	.	7.9973	0.30275	0.1715:0.7419:0.0:0.0866	.	1050	Q14692	BMS1_HUMAN	V	1050	ENSP00000363642:A1050V	ENSP00000363642:A1050V	A	+	2	0	BMS1	42638588	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.855000	0.48333	2.250000	0.74265	0.454000	0.30748	GCC		0.413	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		17	119	0	0	0	0.006122	0	17	119				
ZNF22	7570	broad.mit.edu	37	10	45498928	45498928	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:45498928C>T	ENST00000298299.3	+	2	705	c.112C>T	c.(112-114)Cga>Tga	p.R38*	CEP164P1_ENST00000456938.2_RNA|C10orf25_ENST00000298298.1_5'Flank	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	38					odontogenesis (GO:0042476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R38*(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				CATGACTATTCGATTTGACTC	0.453																																							uc001jbw.2		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(1)|kidney(1)	2						c.(112-114)CGA>TGA		zinc finger protein 22 (KOX 15)							67.0	68.0	68.0					10																	45498928		2203	4300	6503	SO:0001587	stop_gained	7570				odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding	g.chr10:45498928C>T	BC041139	CCDS7211.1	10q11	2013-01-08	2012-07-12		ENSG00000165512	ENSG00000165512		"""Zinc fingers, C2H2-type"""	13012	protein-coding gene	gene with protein product		194529					Standard	NM_006963		Approved	KOX15, HKR-T1, ZNF422, Zfp422	uc001jbw.3	P17026	OTTHUMG00000018064	ENST00000298299.3:c.112C>T	10.37:g.45498928C>T	ENSP00000298299:p.Arg38*					C10orf25_uc010qff.1_5'Flank|C10orf25_uc001jbv.1_5'Flank|uc001jbx.1_RNA	p.R38*	NM_006963	NP_008894	P17026	ZNF22_HUMAN			2	355	+		Prostate(175;0.0352)|all_neural(218;0.202)	38					Q5T741|Q96FM4	Nonsense_Mutation	SNP	ENST00000298299.3	37	c.112C>T	CCDS7211.1	.	.	.	.	.	.	.	.	.	.	C	37	6.189860	0.97362	.	.	ENSG00000165512	ENST00000298299	.	.	.	4.94	4.0	0.46444	.	0.377392	0.19327	N	0.116986	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-6.1428	12.4084	0.55453	0.1694:0.8306:0.0:0.0	.	.	.	.	X	38	.	ENSP00000298299:R38X	R	+	1	2	ZNF22	44818934	0.975000	0.34042	0.286000	0.24833	0.158000	0.22134	2.203000	0.42752	1.369000	0.46134	0.655000	0.94253	CGA		0.453	ZNF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047761.1	NM_006963		8	61	0	0	0	0.00308	0	8	61				
OGDHL	55753	broad.mit.edu	37	10	50944420	50944420	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:50944420T>C	ENST00000374103.4	-	21	2822	c.2737A>G	c.(2737-2739)Atc>Gtc	p.I913V	OGDHL_ENST00000419399.1_Missense_Mutation_p.I856V|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.I704V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	913					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.I913V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGGCGCGTGATGGCCACTTTC	0.632																																							uc001jie.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2737-2739)ATC>GTC		oxoglutarate dehydrogenase-like isoform a							120.0	109.0	113.0					10																	50944420		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50944420T>C	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2737A>G	10.37:g.50944420T>C	ENSP00000363216:p.Ile913Val					OGDHL_uc009xog.2_Missense_Mutation_p.I940V|OGDHL_uc010qgt.1_Missense_Mutation_p.I856V|OGDHL_uc010qgu.1_Missense_Mutation_p.I704V	p.I913V	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			21	2879	-			913					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.2737A>G	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.532745	0.45073	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.12569	2.67;2.67;2.67	5.19	2.71	0.32032	.	0.053902	0.64402	D	0.000001	T	0.19366	0.0465	M	0.69823	2.125	0.58432	D	0.999992	B;B;B	0.15473	0.006;0.006;0.013	B;B;B	0.28465	0.09;0.044;0.046	T	0.03619	-1.1019	10	0.66056	D	0.02	.	11.792	0.52075	0.0:0.0:0.2786:0.7214	.	856;704;913	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	V	913;856;704	ENSP00000363216:I913V;ENSP00000401356:I856V;ENSP00000390240:I704V	ENSP00000363216:I913V	I	-	1	0	OGDHL	50614426	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.837000	0.48191	0.255000	0.21593	0.397000	0.26171	ATC		0.632	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		14	74	0	0	0	0.003163	0	14	74				
PCDH15	65217	broad.mit.edu	37	10	55569195	55569195	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:55569195T>A	ENST00000395445.1	-	36	5009	c.4615A>T	c.(4615-4617)Aca>Tca	p.T1539S	PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.T473S|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395442.1_Missense_Mutation_p.T404S|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.T735S	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTCTTCCATGTTGTGTATGTA	0.403										HNSCC(58;0.16)																													uc010qhs.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4630-4632)ACA>TCA		protocadherin 15 isoform CD2-1 precursor							183.0	172.0	175.0					10																	55569195		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55569195T>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4615A>T	10.37:g.55569195T>A	ENSP00000378832:p.Thr1539Ser	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.T1537S|PCDH15_uc010qhu.1_3'UTR	p.T1544S	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN			37	5025	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395445.1	37	c.4630A>T		.	.	.	.	.	.	.	.	.	.	T	12.66	2.005021	0.35415	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.60040	0.22;0.37;0.58;0.47	5.88	3.55	0.40652	.	.	.	.	.	T	0.32041	0.0816	N	0.08118	0	0.35444	D	0.795165	B;B	0.15141	0.012;0.012	B;B	0.15870	0.014;0.014	T	0.23547	-1.0185	9	0.28530	T	0.3	.	5.4572	0.16598	0.0:0.1538:0.2418:0.6044	.	1537;1539	C6ZEF5;A2A3E2	.;.	S	1539;735;404;473	ENSP00000378832:T1539S;ENSP00000378833:T735S;ENSP00000378829:T404S;ENSP00000378827:T473S	ENSP00000378827:T473S	T	-	1	0	PCDH15	55239201	0.002000	0.14202	0.056000	0.19401	0.933000	0.57130	0.029000	0.13666	1.060000	0.40578	0.533000	0.62120	ACA		0.403	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		20	146	0	0	0	0.008871	0	20	146				
PCDH15	65217	broad.mit.edu	37	10	55600099	55600099	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:55600099C>T	ENST00000320301.6	-	29	4358	c.3964G>A	c.(3964-3966)Gat>Aat	p.D1322N	PCDH15_ENST00000395430.1_Missense_Mutation_p.D1322N|PCDH15_ENST00000373965.2_Missense_Mutation_p.D1329N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.D933N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1322N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1300N|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1327N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1322N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1285N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1329N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1251N	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1322					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.D1322N(2)|p.D1327N(2)|p.D1327Y(1)|p.D1322Y(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCATTTCTATCGATGGCTCTG	0.413										HNSCC(58;0.16)																													uc001jju.1		NA																	6	Substitution - Missense(6)		lung(4)|large_intestine(2)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(3964-3966)GAT>AAT		protocadherin 15 isoform CD1-4 precursor							145.0	139.0	141.0					10																	55600099		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55600099C>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3964G>A	10.37:g.55600099C>T	ENSP00000322604:p.Asp1322Asn	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.D1327N|PCDH15_uc010qhr.1_Missense_Mutation_p.D1322N|PCDH15_uc010qhs.1_Missense_Mutation_p.D1334N|PCDH15_uc010qht.1_Missense_Mutation_p.D1329N|PCDH15_uc010qhu.1_Missense_Mutation_p.D1322N|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.D1322N|PCDH15_uc010qhw.1_Missense_Mutation_p.D1285N|PCDH15_uc010qhx.1_Missense_Mutation_p.D1251N|PCDH15_uc010qhy.1_Missense_Mutation_p.D1327N|PCDH15_uc010qhz.1_Missense_Mutation_p.D1322N|PCDH15_uc010qia.1_Missense_Mutation_p.D1300N|PCDH15_uc010qib.1_Missense_Mutation_p.D1300N	p.D1322N	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			29	4359	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1322			Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.3964G>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480946	0.63849	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.58940	0.38;0.42;0.34;0.35;0.33;0.32;0.3;0.34;0.31;0.3;0.32	5.43	4.3	0.51218	.	.	.	.	.	T	0.37404	0.1002	N	0.08118	0	0.09310	N	0.999994	P;P;P;P;D;P;P;B;P;P;P;P;P	0.61697	0.9;0.755;0.755;0.755;0.99;0.755;0.9;0.2;0.622;0.622;0.622;0.755;0.755	B;B;B;B;P;B;B;B;B;B;B;B;B	0.47015	0.281;0.205;0.205;0.145;0.534;0.205;0.281;0.075;0.107;0.069;0.107;0.154;0.205	T	0.19321	-1.0309	9	0.59425	D	0.04	.	2.972	0.05926	0.2703:0.5523:0.0:0.1774	.	1300;1322;1322;1327;1251;1285;1322;1322;1329;1329;1322;1327;1322	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	N	1329;1327;1322;1322;933;1329;1285;1322;1300;1322;1322;1327;1251	ENSP00000363076:D1329N;ENSP00000410304:D1327N;ENSP00000378826:D1322N;ENSP00000386693:D933N;ENSP00000378832:D1329N;ENSP00000378820:D1285N;ENSP00000354950:D1322N;ENSP00000378821:D1300N;ENSP00000322604:D1322N;ENSP00000378818:D1322N;ENSP00000412628:D1251N	ENSP00000322604:D1322N	D	-	1	0	PCDH15	55270105	0.998000	0.40836	0.920000	0.36463	0.937000	0.57800	3.464000	0.53057	2.703000	0.92315	0.579000	0.79373	GAT		0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		40	116	0	0	0	0.00874	0	40	116				
PCDH15	65217	broad.mit.edu	37	10	55782676	55782676	+	Silent	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:55782676A>T	ENST00000320301.6	-	19	2896	c.2502T>A	c.(2500-2502)gcT>gcA	p.A834A	PCDH15_ENST00000395430.1_Silent_p.A834A|PCDH15_ENST00000373965.2_Silent_p.A841A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Silent_p.A445A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Silent_p.A834A|PCDH15_ENST00000395433.1_Silent_p.A812A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Silent_p.A839A|PCDH15_ENST00000361849.3_Silent_p.A834A|PCDH15_ENST00000373955.1_Silent_p.A834A|PCDH15_ENST00000395432.2_Silent_p.A797A|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Silent_p.A841A|PCDH15_ENST00000437009.1_Silent_p.A763A	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	834	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.A834A(2)|p.A839A(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGTAGTCCCAGCTGGCAAAT	0.398										HNSCC(58;0.16)																													uc001jju.1		NA																	4	Substitution - coding silent(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2500-2502)GCT>GCA		protocadherin 15 isoform CD1-4 precursor							151.0	137.0	142.0					10																	55782676		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55782676A>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2502T>A	10.37:g.55782676A>T		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.A839A|PCDH15_uc010qhr.1_Silent_p.A834A|PCDH15_uc010qhs.1_Silent_p.A846A|PCDH15_uc010qht.1_Silent_p.A841A|PCDH15_uc010qhu.1_Silent_p.A834A|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.A834A|PCDH15_uc010qhw.1_Silent_p.A797A|PCDH15_uc010qhx.1_Silent_p.A763A|PCDH15_uc010qhy.1_Silent_p.A839A|PCDH15_uc010qhz.1_Silent_p.A834A|PCDH15_uc010qia.1_Silent_p.A812A|PCDH15_uc010qib.1_Silent_p.A812A|PCDH15_uc001jjw.2_Silent_p.A834A	p.A834A	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			19	2897	-		Melanoma(3;0.117)|Lung SC(717;0.238)	834			Extracellular (Potential).|Cadherin 8.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.2502T>A	CCDS7248.1																																																																																				0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		37	95	0	0	0	0.003214	0	37	95				
IPMK	253430	broad.mit.edu	37	10	59956367	59956367	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:59956367C>G	ENST00000373935.3	-	6	1043	c.721G>C	c.(721-723)Gaa>Caa	p.E241Q		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	241					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)	p.E241Q(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TTCTGGTTTTCAAACCACTGC	0.363																																							uc001jkb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(721-723)GAA>CAA		inositol polyphosphate multikinase							33.0	35.0	34.0					10																	59956367		2201	4294	6495	SO:0001583	missense	253430					nucleus	ATP binding|inositol trisphosphate 6-kinase activity	g.chr10:59956367C>G	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.721G>C	10.37:g.59956367C>G	ENSP00000363046:p.Glu241Gln						p.E241Q	NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN			6	1044	-			241						Missense_Mutation	SNP	ENST00000373935.3	37	c.721G>C	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667425	0.67814	.	.	ENSG00000151151	ENST00000373935	T	0.21191	2.02	5.97	4.14	0.48551	.	0.042975	0.85682	D	0.000000	T	0.42585	0.1209	M	0.75264	2.295	0.45452	D	0.998429	D	0.63880	0.993	D	0.67231	0.95	T	0.24799	-1.0150	9	.	.	.	-8.1443	10.9485	0.47315	0.0:0.8481:0.0:0.1519	.	241	Q8NFU5	IPMK_HUMAN	Q	241	ENSP00000363046:E241Q	.	E	-	1	0	IPMK	59626373	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.943000	0.63554	0.874000	0.35823	0.585000	0.79938	GAA		0.363	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048142.1	NM_152230		15	42	0	0	0	0.00245	0	15	42				
PBLD	64081	broad.mit.edu	37	10	70048269	70048269	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:70048269C>A	ENST00000358769.2	-	8	864	c.662G>T	c.(661-663)tGg>tTg	p.W221L	PBLD_ENST00000495025.2_Missense_Mutation_p.W221L|PBLD_ENST00000432941.1_Missense_Mutation_p.W221L|PBLD_ENST00000336578.1_Missense_Mutation_p.W188L|PBLD_ENST00000309049.4_Missense_Mutation_p.W221L	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	221					biosynthetic process (GO:0009058)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein import into nucleus (GO:0060392)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	isomerase activity (GO:0016853)	p.W221L(2)		endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						CACACCAACCCACGGTGCAAA	0.458																																							uc001jns.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(661-663)TGG>TTG		MAWD binding protein isoform a							78.0	80.0	79.0					10																	70048269		2203	4300	6503	SO:0001583	missense	64081				biosynthetic process		isomerase activity	g.chr10:70048269C>A	AK027673	CCDS7277.2, CCDS44413.1	10q21.3	2006-11-27			ENSG00000108187	ENSG00000108187			23301	protein-coding gene	gene with protein product	MAWD binding protein	612189				11355021	Standard	XM_005270028		Approved	MAWBP, MAWDBP, FLJ14767	uc001jns.1	P30039	OTTHUMG00000073949	ENST00000358769.2:c.662G>T	10.37:g.70048269C>A	ENSP00000351619:p.Trp221Leu					PBLD_uc001jnr.1_Missense_Mutation_p.W188L|PBLD_uc001jnt.1_Missense_Mutation_p.W221L|PBLD_uc001jnu.1_Missense_Mutation_p.W221L|PBLD_uc001jnv.1_3'UTR	p.W221L	NM_022129	NP_071412	P30039	PBLD_HUMAN			8	865	-			221					A8MZJ3|C9JIM0|Q9HCC2	Missense_Mutation	SNP	ENST00000358769.2	37	c.662G>T	CCDS7277.2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370643	0.82573	.	.	ENSG00000108187	ENST00000336578;ENST00000358769;ENST00000309049;ENST00000432941	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.58032	0.2094	M	0.83312	2.635	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.57100	-0.7869	10	0.27785	T	0.31	-8.0933	16.488	0.84190	0.0:1.0:0.0:0.0	.	221;221	C9JIM0;P30039	.;PBLD_HUMAN	L	188;221;221;221	ENSP00000338041:W188L;ENSP00000351619:W221L;ENSP00000308466:W221L;ENSP00000395534:W221L	ENSP00000308466:W221L	W	-	2	0	PBLD	69718275	1.000000	0.71417	0.532000	0.27989	0.985000	0.73830	5.638000	0.67861	2.502000	0.84385	0.563000	0.77884	TGG		0.458	PBLD-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048314.1	NM_022129		7	47	1	0	0.00198382	0.001984	0.00223792	7	47				
C10orf105	414152	broad.mit.edu	37	10	73498295	73498295	+	5'Flank	SNP	G	G	A	rs369353175		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:73498295G>A	ENST00000398786.2	-	0	0				CDH23_ENST00000224721.6_Missense_Mutation_p.R1422Q	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)		p.R1422Q(1)									AACAGCCCCCGGTTTGACTTC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		20913	0.0		0.001	False		,,,				2504	0.0						uc001jrx.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(4249-4251)CGG>CAG		cadherin-like 23 isoform 1 precursor		G	GLN/ARG	0,4250		0,0,2125	108.0	122.0	117.0		4250	1.9	1.0	10		117	1,8537		0,1,4268	no	missense	CDH23	NM_022124.5	43	0,1,6393	AA,AG,GG		0.0117,0.0,0.0078	benign	1417/3355	73498295	1,12787	2125	4269	6394	SO:0001631	upstream_gene_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73498295G>A	AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427		10.37:g.73498295G>A	Exception_encountered					C10orf105_uc001jsb.1_5'Flank|CDH23_uc001jsc.1_Missense_Mutation_p.R224Q	p.R1417Q	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			33	4627	+			1417		R -> W.	Cadherin 13.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000398786.2	37	c.4250G>A	CCDS44430.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901896	0.33535	0.0	1.17E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	5.29	1.91	0.25777	Cadherin (2);Cadherin-like (1);	0.211961	0.39687	N	0.001291	T	0.24624	0.0597	N	0.05441	-0.05	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.03555	-1.1025	9	0.15499	T	0.54	.	5.5066	0.16858	0.5393:0.0:0.4607:0.0	.	237;1417	E7ERT0;Q9H251	.;CAD23_HUMAN	Q	1422;1417;1420;237	.	ENSP00000224721:R1422Q	R	+	2	0	CDH23	73168301	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	2.613000	0.46351	0.728000	0.32382	0.491000	0.48974	CGG		0.612	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375		7	33	0	0	0	0.004482	0	7	33				
DLG5	9231	broad.mit.edu	37	10	79601669	79601669	+	Silent	SNP	C	C	A	rs138228867		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:79601669C>A	ENST00000372391.2	-	7	1412	c.1407G>T	c.(1405-1407)gcG>gcT	p.A469A	DLG5_ENST00000372388.2_Silent_p.A469A	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	469					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)	p.A469A(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCTCATTGGCCGCCTTCTTCT	0.617																																							uc001jzk.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(3)	8						c.(1405-1407)GCG>GCT		discs large homolog 5							91.0	76.0	81.0					10																	79601669		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79601669C>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1407G>T	10.37:g.79601669C>A						DLG5_uc001jzj.2_Silent_p.A224A|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Silent_p.A73A	p.A469A	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		7	1477	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		469					A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.1407G>T	CCDS7353.2																																																																																				0.617	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			6	46	1	0	0.00307968	0.00308	0.00345283	6	46				
PLCE1	51196	broad.mit.edu	37	10	95993841	95993841	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:95993841C>A	ENST00000371380.3	+	5	2221	c.1986C>A	c.(1984-1986)ttC>ttA	p.F662L	PLCE1_ENST00000371385.3_Missense_Mutation_p.F354L|PLCE1_ENST00000260766.3_Missense_Mutation_p.F662L|PLCE1_ENST00000371375.1_Missense_Mutation_p.F354L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	662	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.F662L(1)|p.F354L(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTGGCAGTTCATGGACCAGT	0.423																																							uc001kjk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1984-1986)TTC>TTA		phospholipase C, epsilon 1 isoform 1							89.0	86.0	87.0					10																	95993841		1936	4135	6071	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95993841C>A		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1986C>A	10.37:g.95993841C>A	ENSP00000360431:p.Phe662Leu					PLCE1_uc010qnx.1_Missense_Mutation_p.F662L|PLCE1_uc001kjm.2_Missense_Mutation_p.F354L	p.F662L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			6	2620	+		Colorectal(252;0.0458)	662			Ras-GEF.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.1986C>A	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985458	0.74589	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.77	-1.75	0.08031	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.39809	0.1092	L	0.51422	1.61	0.33381	D	0.574901	D;D;D	0.76494	0.999;0.999;0.994	D;D;D	0.81914	0.995;0.99;0.968	T	0.50693	-0.8798	10	0.49607	T	0.09	.	13.8993	0.63792	0.0:0.5841:0.0:0.4159	.	662;354;662	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	L	662;662;354;354	ENSP00000260766:F662L;ENSP00000360431:F662L;ENSP00000360438:F354L;ENSP00000360426:F354L	ENSP00000260766:F662L	F	+	3	2	PLCE1	95983831	0.977000	0.34250	0.994000	0.49952	0.995000	0.86356	0.095000	0.15127	-0.197000	0.10350	-0.247000	0.11927	TTC		0.423	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		9	43	1	0	7.48243e-07	0.006214	1.02813e-06	9	43				
SORBS1	10580	broad.mit.edu	37	10	97144023	97144023	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:97144023G>A	ENST00000361941.3	-	14	1406	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y	SORBS1_ENST00000371246.2_Silent_p.Y482Y|SORBS1_ENST00000607232.1_Silent_p.Y249Y|SORBS1_ENST00000371241.1_Silent_p.Y250Y|SORBS1_ENST00000306402.6_Silent_p.Y291Y|SORBS1_ENST00000353505.5_Silent_p.Y345Y|SORBS1_ENST00000354106.3_Silent_p.Y430Y|SORBS1_ENST00000371247.2_Silent_p.Y460Y|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000347291.4_Silent_p.Y328Y|SORBS1_ENST00000371249.2_Silent_p.Y382Y|SORBS1_ENST00000371245.3_Silent_p.Y345Y|SORBS1_ENST00000277982.5_Silent_p.Y482Y|SORBS1_ENST00000371239.1_Silent_p.Y259Y|SORBS1_ENST00000393949.1_Silent_p.Y430Y|SORBS1_ENST00000371227.4_Silent_p.Y414Y	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1									p.Y460Y(1)|p.Y345Y(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATCTGGGAGAGTACAGATCTG	0.428																																							uc001kkp.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(1378-1380)TAC>TAT		sorbin and SH3 domain containing 1 isoform 3							106.0	98.0	100.0					10																	97144023		2203	4300	6503	SO:0001819	synonymous_variant	10580				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr10:97144023G>A	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1380C>T	10.37:g.97144023G>A						SORBS1_uc001kkk.2_Silent_p.Y38Y|SORBS1_uc001kkl.2_Silent_p.Y62Y|SORBS1_uc001kkn.2_Silent_p.Y247Y|SORBS1_uc001kkm.2_Silent_p.Y316Y|SORBS1_uc001kko.2_Silent_p.Y482Y|SORBS1_uc001kkq.2_Silent_p.Y345Y|SORBS1_uc001kkr.2_Silent_p.Y250Y|SORBS1_uc001kks.2_Silent_p.Y250Y|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Silent_p.Y291Y|SORBS1_uc001kkv.2_Silent_p.Y382Y|SORBS1_uc001kkw.2_Silent_p.Y414Y|SORBS1_uc010qoe.1_Silent_p.Y259Y|SORBS1_uc010qof.1_Silent_p.Y612Y	p.Y460Y	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)	14	1425	-		Colorectal(252;0.0429)	460			SoHo.			Silent	SNP	ENST00000361941.3	37	c.1380C>T	CCDS31255.1																																																																																				0.428	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049517.1			23	90	0	0	0	0.004656	0	23	90				
HPSE2	60495	broad.mit.edu	37	10	100995424	100995424	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:100995424G>C	ENST00000370552.3	-	1	195	c.136C>G	c.(136-138)Ccc>Gcc	p.P46A	HPSE2_ENST00000370549.1_Missense_Mutation_p.P46A|HPSE2_ENST00000404542.1_Missense_Mutation_p.P46A|HPSE2_ENST00000370546.1_Missense_Mutation_p.P46A	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	46					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.P46A(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ACAGGCAAGGGTCTCCTGTCT	0.572																																							uc001kpn.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(136-138)CCC>GCC		heparanase 2							128.0	129.0	129.0					10																	100995424		2203	4300	6503	SO:0001583	missense	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100995424G>C	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.136C>G	10.37:g.100995424G>C	ENSP00000359583:p.Pro46Ala					HPSE2_uc009xwc.1_Missense_Mutation_p.P36A|HPSE2_uc001kpo.1_Missense_Mutation_p.P36A|HPSE2_uc009xwd.1_Missense_Mutation_p.P36A	p.P46A	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	1	196	-			46					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	c.136C>G	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457032	0.26161	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546;ENST00000404542	T;T;T;T	0.00456	7.3;7.3;7.3;7.3	5.8	3.8	0.43715	.	0.660669	0.15549	N	0.256533	T	0.00210	0.0006	N	0.16478	0.41	0.24468	N	0.994405	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.31308	-0.9948	10	0.20519	T	0.43	-0.5956	5.1972	0.15245	0.08:0.1125:0.5912:0.2163	.	46;46;46;46	Q8WWQ2-4;Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;.;HPSE2_HUMAN	A	46	ENSP00000359583:P46A;ENSP00000359580:P46A;ENSP00000359577:P46A;ENSP00000384384:P46A	ENSP00000359577:P46A	P	-	1	0	HPSE2	100985414	0.991000	0.36638	1.000000	0.80357	0.922000	0.55478	0.554000	0.23407	1.475000	0.48197	-0.258000	0.10820	CCC		0.572	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828		21	161	0	0	0	0.001882	0	21	161				
SEC31B	25956	broad.mit.edu	37	10	102249088	102249088	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:102249088T>A	ENST00000370345.3	-	23	3189	c.3092A>T	c.(3091-3093)cAa>cTa	p.Q1031L		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1031	Pro-rich.				protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)		p.Q1031L(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AAGAATCCCTTGTAGCTCAGG	0.522																																							uc001krc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3091-3093)CAA>CTA		SEC31 homolog B							82.0	87.0	85.0					10																	102249088		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102249088T>A	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.3092A>T	10.37:g.102249088T>A	ENSP00000359370:p.Gln1031Leu					SEC31B_uc010qpo.1_Missense_Mutation_p.Q1030L|SEC31B_uc001krd.1_Missense_Mutation_p.Q568L|SEC31B_uc001krf.1_Missense_Mutation_p.Q463L|SEC31B_uc001kre.1_Missense_Mutation_p.Q463L	p.Q1031L	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	23	3194	-		Colorectal(252;0.117)	1031			Pro-rich.		B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.3092A>T	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	C	6.365	0.435506	0.12045	.	.	ENSG00000075826	ENST00000370345	T	0.55234	0.53	4.68	-5.62	0.02481	.	1.140720	0.06617	N	0.756645	T	0.47116	0.1428	L	0.61218	1.895	0.22185	N	0.999302	B;B	0.22346	0.068;0.041	B;B	0.29267	0.1;0.021	T	0.43228	-0.9404	10	0.38643	T	0.18	2.8378	8.0442	0.30540	0.0:0.281:0.1817:0.5374	.	1030;1031	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	L	1031	ENSP00000359370:Q1031L	ENSP00000359370:Q1031L	Q	-	2	0	SEC31B	102239078	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.412000	0.02476	-1.949000	0.01031	-2.351000	0.00242	CAA		0.522	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		5	28	0	0	0	0.000602	0	5	28				
SORCS1	114815	broad.mit.edu	37	10	108489838	108489838	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:108489838C>A	ENST00000263054.6	-	6	1001	c.994G>T	c.(994-996)Gtg>Ttg	p.V332L	SORCS1_ENST00000344440.6_Missense_Mutation_p.V332L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	332					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.V332L(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCAAGATGCACAAGGTCTGGT	0.388																																							uc001kym.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(994-996)GTG>TTG		SORCS receptor 1 isoform a							141.0	118.0	126.0					10																	108489838		2203	4300	6503	SO:0001583	missense	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108489838C>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.994G>T	10.37:g.108489838C>A	ENSP00000263054:p.Val332Leu					SORCS1_uc001kyl.2_Missense_Mutation_p.V332L|SORCS1_uc009xxs.2_Missense_Mutation_p.V332L|SORCS1_uc001kyn.1_Missense_Mutation_p.V332L|SORCS1_uc001kyo.2_Missense_Mutation_p.V332L	p.V332L	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	6	1002	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	332			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	ENST00000263054.6	37	c.994G>T	CCDS7559.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.025858	0.54683	.	.	ENSG00000108018	ENST00000263054;ENST00000344440	T;T	0.40756	1.02;1.02	5.8	3.96	0.45880	VPS10 (1);	0.155465	0.44902	D	0.000411	T	0.52419	0.1733	M	0.75777	2.31	0.36072	D	0.84216	P;P;P;P;P	0.51449	0.908;0.945;0.945;0.908;0.945	P;P;P;P;P	0.53224	0.53;0.721;0.721;0.53;0.721	T	0.61955	-0.6956	9	.	.	.	-12.126	8.8255	0.35052	0.0:0.8279:0.0:0.1721	.	332;332;332;332;332	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	L	332	ENSP00000263054:V332L;ENSP00000345964:V332L	.	V	-	1	0	SORCS1	108479828	1.000000	0.71417	0.757000	0.31301	0.994000	0.84299	2.756000	0.47549	0.804000	0.34136	0.591000	0.81541	GTG		0.388	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		4	52	1	0	4.096e-09	0.001168	6.09812e-09	4	52				
NRAP	4892	broad.mit.edu	37	10	115374006	115374006	+	Missense_Mutation	SNP	G	G	T	rs190161041	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:115374006G>T	ENST00000359988.3	-	29	3480	c.3236C>A	c.(3235-3237)tCc>tAc	p.S1079Y	NRAP_ENST00000369358.4_Missense_Mutation_p.S1087Y|NRAP_ENST00000369360.3_Missense_Mutation_p.S1052Y|NRAP_ENST00000360478.3_Missense_Mutation_p.S1044Y	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.S1079Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAAGCTCCGGGAACCAAGCAT	0.507																																							uc001laj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(3235-3237)TCC>TAC		nebulin-related anchoring protein isoform S							246.0	211.0	223.0					10																	115374006		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115374006G>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.3236C>A	10.37:g.115374006G>T	ENSP00000353078:p.Ser1079Tyr					NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.S1044Y|NRAP_uc001lal.3_Missense_Mutation_p.S1079Y	p.S1079Y	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	29	3400	-		Colorectal(252;0.0233)|Breast(234;0.188)	1079			Nebulin 28.			Missense_Mutation	SNP	ENST00000359988.3	37	c.3236C>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262993	0.39995	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478	T;T;T;T	0.17054	2.48;2.52;2.39;2.3	5.65	5.65	0.86999	.	0.063757	0.64402	D	0.000002	T	0.27349	0.0671	L	0.27053	0.805	0.36140	D	0.846736	D;D;P	0.69078	0.995;0.997;0.945	P;D;P	0.68192	0.905;0.956;0.63	T	0.12192	-1.0557	10	0.52906	T	0.07	.	12.9878	0.58602	0.0736:0.0:0.9264:0.0	.	1079;1044;1079	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	Y	1087;1052;1079;1044	ENSP00000358365:S1087Y;ENSP00000358367:S1052Y;ENSP00000353078:S1079Y;ENSP00000353666:S1044Y	ENSP00000353078:S1079Y	S	-	2	0	NRAP	115363996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.241000	0.72369	2.665000	0.90641	0.650000	0.86243	TCC		0.507	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		18	187	1	0	1.00905e-13	0.008871	1.70744e-13	18	187				
PLEKHS1	79949	broad.mit.edu	37	10	115531801	115531801	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:115531801G>A	ENST00000369310.3	+	7	1169	c.607G>A	c.(607-609)Gtg>Atg	p.V203M	PLEKHS1_ENST00000354462.3_5'UTR|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.V121M|PLEKHS1_ENST00000369309.1_Missense_Mutation_p.V23M|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.V209M	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	203								p.V121M(1)|p.V209M(1)									CACTCAAGATGTGAAGGAAGA	0.348																																							uc001lat.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(607-609)GTG>ATG		hypothetical protein LOC79949							154.0	142.0	146.0					10																	115531801		2203	4300	6503	SO:0001583	missense	79949							g.chr10:115531801G>A	AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.607G>A	10.37:g.115531801G>A	ENSP00000358316:p.Val203Met					C10orf81_uc001lar.1_Missense_Mutation_p.V209M|C10orf81_uc009xyc.1_Missense_Mutation_p.V121M|C10orf81_uc001las.1_Missense_Mutation_p.V121M|C10orf81_uc001lau.1_Missense_Mutation_p.V23M	p.V203M	NM_024889	NP_079165	Q5SXH7	CJ081_HUMAN		Epithelial(162;0.0181)|all cancers(201;0.0204)	7	1169	+		Colorectal(252;0.175)	203					A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	ENST00000369310.3	37	c.607G>A	CCDS53580.1	.	.	.	.	.	.	.	.	.	.	G	8.970	0.972730	0.18736	.	.	ENSG00000148735	ENST00000361048;ENST00000369312;ENST00000369310;ENST00000369309	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.11	-2.17	0.07059	.	1.202810	0.05787	N	0.609743	T	0.11239	0.0274	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.18968	0.019;0.003;0.032;0.006	B;B;B;B	0.15052	0.012;0.003;0.008;0.005	T	0.22765	-1.0207	10	0.46703	T	0.11	-39.0183	4.4916	0.11817	0.5184:0.0:0.3372:0.1444	.	203;203;203;209	Q5SXH7;Q5SXH7-5;Q5SXH7-2;Q5SXH7-4	CJ081_HUMAN;.;.;.	M	209;121;203;23	ENSP00000354332:V209M;ENSP00000358318:V121M;ENSP00000358316:V203M;ENSP00000358315:V23M	ENSP00000354332:V209M	V	+	1	0	C10orf81	115521791	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.098000	0.15189	-0.483000	0.06772	-0.300000	0.09419	GTG		0.348	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050432.1	NM_024889		40	101	0	0	0	0.00874	0	40	101				
CCDC186	55088	broad.mit.edu	37	10	115922587	115922587	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:115922587C>A	ENST00000369287.3	-	2	707	c.441G>T	c.(439-441)aaG>aaT	p.K147N	C10orf118_ENST00000369286.1_Missense_Mutation_p.K147N|C10orf118_ENST00000369285.3_Missense_Mutation_p.K147N	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		147								p.K147N(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AAATAAATTTCTTGGTGCAGT	0.358																																							uc001lbb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(439-441)AAG>AAT		CTCL tumor antigen L14-2							93.0	99.0	97.0					10																	115922587		2202	4299	6501	SO:0001583	missense	55088							g.chr10:115922587C>A																												ENST00000369287.3:c.441G>T	10.37:g.115922587C>A	ENSP00000358293:p.Lys147Asn					C10orf118_uc001lbc.1_Missense_Mutation_p.K147N|C10orf118_uc009xye.1_RNA|C10orf118_uc001lbd.2_Missense_Mutation_p.K147N|C10orf118_uc001lbe.2_Missense_Mutation_p.K147N	p.K147N	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	2	1093	-		Colorectal(252;0.172)|Breast(234;0.188)	147					Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.441G>T	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452998	0.63290	.	.	ENSG00000165813	ENST00000369287;ENST00000430353;ENST00000369286;ENST00000369285	T;T;T	0.33216	1.42;1.42;1.42	5.48	4.57	0.56435	.	0.101586	0.64402	D	0.000003	T	0.25754	0.0627	L	0.39898	1.24	0.80722	D	1	P	0.41188	0.741	B	0.36989	0.238	T	0.05550	-1.0878	10	0.72032	D	0.01	.	12.471	0.55787	0.0:0.9223:0.0:0.0777	.	147	Q7Z3E2	CJ118_HUMAN	N	147;253;147;147	ENSP00000358293:K147N;ENSP00000358292:K147N;ENSP00000358291:K147N	ENSP00000358291:K147N	K	-	3	2	C10orf118	115912577	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.978000	0.40598	1.317000	0.45149	0.650000	0.86243	AAG		0.358	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			18	134	1	0	8.28177e-16	0.007413	1.4312e-15	18	134				
PNLIPRP3	119548	broad.mit.edu	37	10	118196236	118196236	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:118196236C>T	ENST00000369230.3	+	2	209	c.63C>T	c.(61-63)tgC>tgT	p.C21C		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	21					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.C21C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AAGAAGTTTGCTATGAAAGGT	0.423																																							uc001lcl.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(61-63)TGC>TGT		pancreatic lipase-related protein 3 precursor							131.0	126.0	128.0					10																	118196236		2203	4300	6503	SO:0001819	synonymous_variant	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118196236C>T	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.63C>T	10.37:g.118196236C>T							p.C21C	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	2	164	+			21						Silent	SNP	ENST00000369230.3	37	c.63C>T	CCDS31292.1																																																																																				0.423	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		13	104	0	0	0	0.00245	0	13	104				
TACC2	10579	broad.mit.edu	37	10	123844295	123844295	+	Silent	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:123844295T>C	ENST00000369005.1	+	4	2620	c.2280T>C	c.(2278-2280)gaT>gaC	p.D760D	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.D760D|TACC2_ENST00000515603.1_Silent_p.D760D|TACC2_ENST00000334433.3_Silent_p.D760D|TACC2_ENST00000453444.2_Silent_p.D760D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	760					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.D760D(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGTCCCCAGATCAACCCCGCG	0.607																																							uc001lfv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(2278-2280)GAT>GAC		transforming, acidic coiled-coil containing							62.0	73.0	69.0					10																	123844295		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844295T>C	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2280T>C	10.37:g.123844295T>C						TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.D760D|TACC2_uc010qtv.1_Silent_p.D760D	p.D760D	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	2640	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	760					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.2280T>C	CCDS7626.1																																																																																				0.607	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			12	82	0	0	0	0.001855	0	12	82				
CUZD1	50624	broad.mit.edu	37	10	124598650	124598650	+	Missense_Mutation	SNP	C	C	T	rs143659470		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:124598650C>T	ENST00000368904.1	-	5	1280	c.331G>A	c.(331-333)Gac>Aac	p.D111N	CUZD1_ENST00000392790.1_Missense_Mutation_p.D111N|CUZD1_ENST00000545804.1_Missense_Mutation_p.D111N					CUB and zona pellucida-like domains 1									p.D111N(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		GGAACATAGTCGTTTTTACTG	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		22232	0.0		0.0	False		,,,				2504	0.001						uc001lgq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(331-333)GAC>AAC		CUB and zona pellucida-like domains 1 precursor		C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	238.0	227.0	231.0		331	1.2	0.0	10	dbSNP_134	231	1,8599	1.2+/-3.3	0,1,4299	no	missense	CUZD1	NM_022034.5	23	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	111/608	124598650	2,13004	2203	4300	6503	SO:0001583	missense	50624				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		g.chr10:124598650C>T	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.331G>A	10.37:g.124598650C>T	ENSP00000357900:p.Asp111Asn					CUZD1_uc001lgp.2_5'Flank|CUZD1_uc009yad.2_5'Flank|CUZD1_uc009yaf.2_Intron|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_5'UTR|CUZD1_uc009yae.2_5'UTR|CUZD1_uc001lgs.2_Missense_Mutation_p.D111N|CUZD1_uc010qtz.1_Missense_Mutation_p.D111N	p.D111N	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)	3	663	-		all_neural(114;0.169)|Glioma(114;0.222)	111			CUB 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000368904.1	37	c.331G>A	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	C	8.589	0.884045	0.17467	2.27E-4	1.16E-4	ENSG00000138161	ENST00000368904;ENST00000545804;ENST00000392790	T;T;T	0.17370	2.28;2.28;2.28	5.26	1.24	0.21308	CUB (5);	0.259495	0.31797	N	0.007049	T	0.11707	0.0285	L	0.43923	1.385	0.20403	N	0.999907	B	0.23185	0.081	B	0.20577	0.03	T	0.28776	-1.0033	10	0.21540	T	0.41	-15.4242	6.4397	0.21843	0.0:0.6506:0.1281:0.2213	.	111	Q86UP6	CUZD1_HUMAN	N	111	ENSP00000357900:D111N;ENSP00000441590:D111N;ENSP00000376540:D111N	ENSP00000357900:D111N	D	-	1	0	CUZD1	124588640	0.524000	0.26282	0.008000	0.14137	0.162000	0.22319	0.860000	0.27871	0.208000	0.20626	-0.880000	0.02959	GAC		0.408	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		70	190	0	0	0	0.00361	0	70	190				
FAM196A	642938	broad.mit.edu	37	10	128974033	128974033	+	Silent	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:128974033G>C	ENST00000522781.1	-	4	1182	c.627C>G	c.(625-627)ctC>ctG	p.L209L	FAM196A_ENST00000424811.2_Silent_p.L209L|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	209								p.L209L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGGAGTTTTGGAGCGCAGCTT	0.612																																							uc001lju.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(625-627)CTC>CTG		hypothetical protein LOC642938							38.0	41.0	40.0					10																	128974033		2203	4300	6503	SO:0001819	synonymous_variant	642938							g.chr10:128974033G>C		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.627C>G	10.37:g.128974033G>C						DOCK1_uc001ljt.2_Intron|DOCK1_uc010qun.1_Intron|FAM196A_uc010quo.1_Silent_p.L209L|FAM196A_uc001ljv.1_Silent_p.L209L|FAM196A_uc009yap.1_Silent_p.L209L	p.L209L	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN			1	668	-			209					B2RNT4|B7ZME7	Silent	SNP	ENST00000522781.1	37	c.627C>G	CCDS31312.1																																																																																				0.612	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		11	22	0	0	0	0.00245	0	11	22				
DPYSL4	10570	broad.mit.edu	37	10	134013942	134013942	+	Silent	SNP	C	C	A	rs371212445		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr10:134013942C>A	ENST00000338492.4	+	9	1058	c.894C>A	c.(892-894)gcC>gcA	p.A298A	DPYSL4_ENST00000368627.1_Silent_p.A198A|DPYSL4_ENST00000368629.1_Silent_p.A198A	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	298					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.A298A(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGGCCAAGGCCGCAGCCTTCG	0.652																																							uc009ybb.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(892-894)GCC>GCA		dihydropyrimidinase-like 4							136.0	120.0	125.0					10																	134013942		2202	4300	6502	SO:0001819	synonymous_variant	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134013942C>A	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.894C>A	10.37:g.134013942C>A							p.A298A	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	9	1048	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	298					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	37	c.894C>A	CCDS7665.1																																																																																				0.652	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			18	28	1	0	5.03518e-11	0.007413	8.019e-11	18	28				
MUC5B	727897	broad.mit.edu	37	11	1271325	1271325	+	Silent	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:1271325T>A	ENST00000529681.1	+	31	13273	c.13215T>A	c.(13213-13215)acT>acA	p.T4405T	MUC5B_ENST00000447027.1_Silent_p.T4408T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4405	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T4360T(1)|p.T4405T(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)		CTGCAGCCACTGGCCCCACGG	0.652																																							uc009ycr.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(14632-14634)ACT>ACA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							54.0	68.0	63.0					11																	1271325		1926	4120	6046	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271325T>A	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.13215T>A	11.37:g.1271325T>A						MUC5B_uc001ltb.2_Silent_p.T4408T	p.T4878T	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)	51	14760	+		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)	4405			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.14634T>A	CCDS44515.2																																																																																				0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		19	71	0	0	0	0.002299	0	19	71				
OR52K2	119774	broad.mit.edu	37	11	4470602	4470602	+	Silent	SNP	A	A	T	rs375847826		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:4470602A>T	ENST00000325719.4	+	1	78	c.33A>T	c.(31-33)ccA>ccT	p.P11P	AC010930.1_ENST00000408103.1_RNA	NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P11P(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TAACACATCCAACTGCCTTCT	0.493																																							uc001lyz.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(31-33)CCA>CCT		olfactory receptor, family 52, subfamily K,							134.0	115.0	122.0					11																	4470602		2201	4298	6499	SO:0001819	synonymous_variant	119774				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4470602A>T	AB065791	CCDS31351.1	11p15.4	2012-08-09			ENSG00000181963	ENSG00000181963		"""GPCR / Class A : Olfactory receptors"""	15223	protein-coding gene	gene with protein product							Standard	NM_001005172		Approved		uc001lyz.2	Q8NGK3	OTTHUMG00000165703	ENST00000325719.4:c.33A>T	11.37:g.4470602A>T							p.P11P	NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	33	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	11			Extracellular (Potential).		A8MUY8|B2RP35|Q6IFK4	Silent	SNP	ENST00000325719.4	37	c.33A>T	CCDS31351.1																																																																																				0.493	OR52K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385844.1	NM_001005172		7	44	0	0	0	0.00308	0	7	44				
OR51A7	119687	broad.mit.edu	37	11	4929527	4929527	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:4929527T>A	ENST00000359350.4	+	1	928	c.928T>A	c.(928-930)Tgt>Agt	p.C310S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C310S(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTAATGTATGTGGGAGATA	0.388																																							uc010qyq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(928-930)TGT>AGT		olfactory receptor, family 51, subfamily A,							77.0	72.0	74.0					11																	4929527		2201	4298	6499	SO:0001583	missense	119687				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4929527T>A	AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"""GPCR / Class A : Olfactory receptors"""	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.928T>A	11.37:g.4929527T>A	ENSP00000352305:p.Cys310Ser						p.C310S	NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	928	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	310			Cytoplasmic (Potential).		Q6IFH8	Missense_Mutation	SNP	ENST00000359350.4	37	c.928T>A	CCDS31364.1	.	.	.	.	.	.	.	.	.	.	T	4.614	0.114178	0.08831	.	.	ENSG00000176895	ENST00000359350	T	0.37411	1.2	4.72	3.52	0.40303	.	.	.	.	.	T	0.19087	0.0458	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.09885	-1.0654	9	0.33940	T	0.23	.	9.0235	0.36215	0.1642:0.0:0.0:0.8358	.	310	Q8NH64	O51A7_HUMAN	S	310	ENSP00000352305:C310S	ENSP00000352305:C310S	C	+	1	0	OR51A7	4886103	0.300000	0.24435	0.022000	0.16811	0.127000	0.20565	0.493000	0.22451	1.974000	0.57490	0.533000	0.62120	TGT		0.388	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142175.1	NM_001004749		7	50	0	0	0	0.00308	0	7	50				
OR51L1	119682	broad.mit.edu	37	11	5021145	5021145	+	Silent	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:5021145A>G	ENST00000321543.1	+	1	933	c.933A>G	c.(931-933)ctA>ctG	p.L311L		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L311L(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)		AGTTTGTCCTAAGGAGGAGGT	0.408																																							uc010qyu.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(931-933)CTA>CTG		olfactory receptor, family 51, subfamily L,							56.0	55.0	56.0					11																	5021145		2201	4298	6499	SO:0001819	synonymous_variant	119682				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5021145A>G	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.933A>G	11.37:g.5021145A>G							p.L311L	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	933	+		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)	311			Cytoplasmic (Potential).		Q6IFE5	Silent	SNP	ENST00000321543.1	37	c.933A>G	CCDS31369.1																																																																																				0.408	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142812.1	NM_001004755		12	52	0	0	0	0.000978	0	12	52				
OR52A5	390054	broad.mit.edu	37	11	5152927	5152927	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:5152927T>A	ENST00000307388.1	-	1	945	c.946A>T	c.(946-948)Act>Tct	p.T316S		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	316					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.T316S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACGATCAAGTTACTTTTTTG	0.348																																							uc010qyx.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(946-948)ACT>TCT		olfactory receptor, family 52, subfamily A,							64.0	63.0	63.0					11																	5152927		2201	4298	6499	SO:0001583	missense	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5152927T>A	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.946A>T	11.37:g.5152927T>A	ENSP00000303469:p.Thr316Ser						p.T316S	NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	946	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	316			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000307388.1	37	c.946A>T	CCDS31373.1	.	.	.	.	.	.	.	.	.	.	T	9.612	1.131633	0.21041	.	.	ENSG00000171944	ENST00000307388	T	0.00411	7.53	4.85	-6.21	0.02065	.	2.552370	0.01848	N	0.035730	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43909	-0.9362	10	0.02654	T	1	.	2.7884	0.05380	0.3873:0.1106:0.372:0.13	.	316	Q9H2C5	O52A5_HUMAN	S	316	ENSP00000303469:T316S	ENSP00000303469:T316S	T	-	1	0	OR52A5	5109503	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.146000	0.16180	-0.942000	0.03695	-0.438000	0.05819	ACT		0.348	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		6	49	0	0	0	0.001168	0	6	49				
OR51I1	390063	broad.mit.edu	37	11	5462206	5462206	+	Missense_Mutation	SNP	T	T	A	rs199981071		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:5462206T>A	ENST00000380211.1	-	1	538	c.539A>T	c.(538-540)tAc>tTc	p.Y180F	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	180					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.Y180F(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)		ATGGAGACAGTAGGAGTGATG	0.448																																							uc010qze.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(538-540)TAC>TTC		olfactory receptor, family 51, subfamily I,							92.0	85.0	87.0					11																	5462206		2201	4297	6498	SO:0001583	missense	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462206T>A	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.539A>T	11.37:g.5462206T>A	ENSP00000369559:p.Tyr180Phe					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.Y180F	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	539	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	180			Extracellular (Potential).		B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	c.539A>T	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	T	16.37	3.105391	0.56291	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.00011	9.38	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000110	T	0.00271	0.0008	M	0.64676	1.99	0.27827	N	0.941601	D	0.76494	0.999	D	0.79108	0.992	T	0.66352	-0.5945	10	0.28530	T	0.3	.	14.5278	0.67900	0.0:0.0:0.0:1.0	.	180	Q9H343	O51I1_HUMAN	F	165;177;180	ENSP00000369559:Y180F	ENSP00000348350:Y165F	Y	-	2	0	OR51I1	5418782	0.329000	0.24696	1.000000	0.80357	0.995000	0.86356	-0.178000	0.09782	2.096000	0.63516	0.450000	0.29827	TAC		0.448	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		6	34	0	0	0	0.00308	0	6	34				
OR56A3	390083	broad.mit.edu	37	11	5969356	5969356	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:5969356G>A	ENST00000329564.6	+	1	787	c.780G>A	c.(778-780)ctG>ctA	p.L260L		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L260L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATCCTTCTGGTTTTTGTCC	0.527																																							uc010qzt.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(778-780)CTG>CTA		olfactory receptor, family 56, subfamily A,							225.0	217.0	220.0					11																	5969356		2191	4294	6485	SO:0001819	synonymous_variant	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969356G>A		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.780G>A	11.37:g.5969356G>A							p.L260L	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	780	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	260			Helical; Name=6; (Potential).		A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	c.780G>A	CCDS41614.1																																																																																				0.527	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		25	124	0	0	0	0.004656	0	25	124				
ZNF214	7761	broad.mit.edu	37	11	7021692	7021692	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:7021692G>A	ENST00000278314.4	-	3	1537	c.1222C>T	c.(1222-1224)Cac>Tac	p.H408Y	ZNF214_ENST00000536068.1_Missense_Mutation_p.H408Y|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H408Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCTCCTGTGTGTACTAACTGA	0.418																																					Ovarian(22;251 657 736 21522 46864)	Ovarian(22;251 657 736 21522 46864)	uc001mfa.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1222-1224)CAC>TAC		zinc finger protein 214							83.0	89.0	87.0					11																	7021692		2201	4296	6497	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7021692G>A	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1222C>T	11.37:g.7021692G>A	ENSP00000278314:p.His408Tyr					ZNF214_uc010ray.1_Missense_Mutation_p.H408Y|ZNF214_uc009yfh.1_Missense_Mutation_p.H408Y	p.H408Y	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	1525	-			408			C2H2-type 5.		B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.1222C>T	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.914856	0.72983	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.67523	-0.27;-0.27	3.44	3.44	0.39384	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.170903	0.28203	N	0.016202	D	0.85093	0.5618	H	0.94847	3.59	0.36928	D	0.891731	D	0.76494	0.999	D	0.72338	0.977	D	0.90828	0.4714	10	0.87932	D	0	.	13.182	0.59660	0.0:0.0:1.0:0.0	.	408	Q9UL59	ZN214_HUMAN	Y	408	ENSP00000278314:H408Y;ENSP00000445373:H408Y	ENSP00000278314:H408Y	H	-	1	0	ZNF214	6978268	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.123000	0.94387	2.225000	0.72522	0.655000	0.94253	CAC		0.418	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			20	83	0	0	0	0.008871	0	20	83				
IGSF22	283284	broad.mit.edu	37	11	18738526	18738526	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:18738526C>T	ENST00000513874.1	-	10	1134	c.995G>A	c.(994-996)gGa>gAa	p.G332E	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	332								p.G332E(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTTCATCTCTCCCAGGAACTT	0.537																																							uc009yht.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|kidney(1)	7						c.(994-996)GGA>GAA		immunoglobulin superfamily, member 22							114.0	116.0	116.0					11																	18738526		2076	4207	6283	SO:0001583	missense	283284							g.chr11:18738526C>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.995G>A	11.37:g.18738526C>T	ENSP00000421191:p.Gly332Glu					IGSF22_uc001mpa.2_RNA	p.G332E	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			10	1185	-			332					A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.995G>A	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123001	0.37436	.	.	ENSG00000179057	ENST00000513874	T	0.65916	-0.18	5.03	1.75	0.24633	.	0.000000	0.35407	U	0.003229	T	0.44222	0.1283	N	0.05199	-0.095	0.24214	N	0.995468	D	0.63880	0.993	D	0.63113	0.911	T	0.45963	-0.9225	10	0.07813	T	0.8	.	1.4771	0.02429	0.1399:0.3416:0.3072:0.2112	.	332	D6RGV7	.	E	332	ENSP00000421191:G332E	ENSP00000322422:G332E	G	-	2	0	IGSF22	18695102	0.026000	0.19158	0.118000	0.21660	0.940000	0.58332	0.291000	0.18994	0.433000	0.26313	0.655000	0.94253	GGA		0.537	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		4	49	0	0	0	0.009096	0	4	49				
F2	2147	broad.mit.edu	37	11	46740807	46740807	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:46740807C>A	ENST00000311907.5	+	1	78	c.22C>A	c.(22-24)Cag>Aag	p.Q8K	F2_ENST00000530231.1_Missense_Mutation_p.Q8K	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	8					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)	p.Q8K(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	CCGAGGCTTGCAGCTGCCTGG	0.582																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	Esophageal Squamous(147;1147 1808 2148 38609 51144)	uc001ndf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(22-24)CAG>AAG		coagulation factor II preproprotein	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						45.0	38.0	40.0					11																	46740807		2200	4299	6499	SO:0001583	missense	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46740807C>A	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.22C>A	11.37:g.46740807C>A	ENSP00000308541:p.Gln8Lys					F2_uc001ndg.3_RNA	p.Q8K	NM_000506	NP_000497	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	1	65	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	8					B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	c.22C>A	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	C	2.780	-0.253609	0.05829	.	.	ENSG00000180210	ENST00000311907;ENST00000530231	D;D	0.90732	-2.52;-2.72	5.76	-10.3	0.00346	.	1.728070	0.02502	N	0.090546	T	0.79021	0.4376	N	0.22421	0.69	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.64141	-0.6477	10	0.87932	D	0	.	1.9965	0.03458	0.1176:0.2358:0.3168:0.3298	.	8	P00734	THRB_HUMAN	K	8	ENSP00000308541:Q8K;ENSP00000433907:Q8K	ENSP00000308541:Q8K	Q	+	1	0	F2	46697383	0.000000	0.05858	0.074000	0.20217	0.683000	0.39861	-1.076000	0.03420	-1.393000	0.02079	-0.136000	0.14681	CAG		0.582	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			3	22	1	0	1.024e-07	0.000602	1.44228e-07	3	22				
OR4C6	219432	broad.mit.edu	37	11	55433224	55433224	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:55433224C>A	ENST00000314259.3	+	1	611	c.582C>A	c.(580-582)ggC>ggA	p.G194G		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G194G(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						ACATCCTGGGCCTCTTAGTTA	0.443																																							uc001nht.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(580-582)GGC>GGA		olfactory receptor, family 4, subfamily C,							136.0	121.0	126.0					11																	55433224		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433224C>A	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.582C>A	11.37:g.55433224C>A						OR4C6_uc010rik.1_Silent_p.G194G	p.G194G	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	847	+			194			Helical; Name=5; (Potential).		B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.582C>A	CCDS31506.1																																																																																				0.443	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		31	84	1	0	1.06801e-11	0.009535	1.73493e-11	31	84				
OR5D13	390142	broad.mit.edu	37	11	55541472	55541472	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:55541472G>T	ENST00000361760.1	+	1	559	c.559G>T	c.(559-561)Gtt>Ttt	p.V187F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	187						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V187F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTCTGTAATTGTTTCTGCCTC	0.383																																							uc010ril.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(559-561)GTT>TTT		olfactory receptor, family 5, subfamily D,							119.0	116.0	117.0					11																	55541472		2200	4296	6496	SO:0001583	missense	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541472G>T	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.559G>T	11.37:g.55541472G>T	ENSP00000354800:p.Val187Phe						p.V187F	NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN			1	559	+		all_epithelial(135;0.196)	187			Extracellular (Potential).		Q6IF68|Q6IFC9	Missense_Mutation	SNP	ENST00000361760.1	37	c.559G>T	CCDS31507.1	.	.	.	.	.	.	.	.	.	.	G	8.428	0.847888	0.17034	.	.	ENSG00000198877	ENST00000361760	T	0.00152	8.66	3.3	-3.03	0.05429	GPCR, rhodopsin-like superfamily (1);	0.665869	0.11474	U	0.560445	T	0.00109	0.0003	N	0.25426	0.745	0.09310	N	1	B	0.17465	0.022	B	0.23852	0.049	T	0.10847	-1.0612	10	0.54805	T	0.06	-1.5413	5.5028	0.16838	0.509:0.3054:0.1856:0.0	.	187	Q8NGL4	OR5DD_HUMAN	F	187	ENSP00000354800:V187F	ENSP00000354800:V187F	V	+	1	0	OR5D13	55298048	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.082000	0.03400	-0.345000	0.08325	-0.400000	0.06385	GTT		0.383	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	NM_001001967		34	101	1	0	2.42023e-17	0.003271	4.20235e-17	34	101				
OR5I1	10798	broad.mit.edu	37	11	55703126	55703126	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:55703126T>A	ENST00000301532.3	-	1	750	c.751A>T	c.(751-753)Acg>Tcg	p.T251S		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	251					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T251S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGGTAGATCGTCACTGAAGTC	0.428																																							uc010ris.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(751-753)ACG>TCG		olfactory receptor, family 5, subfamily I,							77.0	75.0	76.0					11																	55703126		2201	4296	6497	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703126T>A	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.751A>T	11.37:g.55703126T>A	ENSP00000301532:p.Thr251Ser						p.T251S	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	751	-			251			Helical; Name=6; (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.751A>T	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	T	2.973	-0.212081	0.06140	.	.	ENSG00000167825	ENST00000301532	T	0.38240	1.15	5.16	1.94	0.25998	GPCR, rhodopsin-like superfamily (1);	0.814615	0.10591	N	0.656715	T	0.12561	0.0305	N	0.02266	-0.62	0.09310	N	1	B	0.16802	0.019	B	0.18871	0.023	T	0.32348	-0.9910	10	0.16420	T	0.52	.	3.4292	0.07422	0.1754:0.4998:0.0:0.3248	.	251	Q13606	OR5I1_HUMAN	S	251	ENSP00000301532:T251S	ENSP00000301532:T251S	T	-	1	0	OR5I1	55459702	0.000000	0.05858	0.342000	0.25602	0.172000	0.22775	-2.149000	0.01291	0.523000	0.28482	-0.427000	0.05922	ACG		0.428	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		3	30	0	0	0	0.009096	0	3	30				
OR8H3	390152	broad.mit.edu	37	11	55890084	55890084	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:55890084C>G	ENST00000313472.3	+	1	236	c.236C>G	c.(235-237)aCa>aGa	p.T79R		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	79						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T79R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ACTGTCGTCACACCTAAAACC	0.433																																							uc001nii.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(235-237)ACA>AGA		olfactory receptor, family 8, subfamily H,							288.0	284.0	285.0					11																	55890084		2201	4294	6495	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890084C>G	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.236C>G	11.37:g.55890084C>G	ENSP00000323928:p.Thr79Arg						p.T79R	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	236	+	Esophageal squamous(21;0.00693)		79			Extracellular (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.236C>G	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567623	0.28003	.	.	ENSG00000181761	ENST00000313472	T	0.02579	4.24	3.44	3.44	0.39384	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000041	T	0.18882	0.0453	H	0.94658	3.565	0.09310	N	1	D	0.67145	0.996	D	0.69824	0.966	T	0.07083	-1.0791	10	0.87932	D	0	.	9.8262	0.40914	0.0:0.8824:0.0:0.1176	.	79	Q8N146	OR8H3_HUMAN	R	79	ENSP00000323928:T79R	ENSP00000323928:T79R	T	+	2	0	OR8H3	55646660	0.000000	0.05858	0.937000	0.37676	0.247000	0.25773	0.742000	0.26216	1.621000	0.50320	0.173000	0.16961	ACA		0.433	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		47	413	0	0	0	0.00361	0	47	413				
OR5J2	282775	broad.mit.edu	37	11	55944722	55944722	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:55944722C>G	ENST00000312298.1	+	1	629	c.629C>G	c.(628-630)aCc>aGc	p.T210S		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T210S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCCATGGCCACCTTCTTGACT	0.473																																							uc010rjb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(628-630)ACC>AGC		olfactory receptor, family 5, subfamily J,							169.0	128.0	142.0					11																	55944722		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944722C>G	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.629C>G	11.37:g.55944722C>G	ENSP00000310788:p.Thr210Ser						p.T210S	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	629	+	Esophageal squamous(21;0.00693)		210			Helical; Name=5; (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.629C>G	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	C	3.692	-0.063328	0.07273	.	.	ENSG00000174957	ENST00000312298	T	0.36878	1.23	4.55	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000022	T	0.31009	0.0783	N	0.11106	0.095	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.28332	-1.0047	10	0.02654	T	1	.	8.575	0.33592	0.0:0.7557:0.1565:0.0877	.	210	Q8NH18	OR5J2_HUMAN	S	210	ENSP00000310788:T210S	ENSP00000310788:T210S	T	+	2	0	OR5J2	55701298	0.000000	0.05858	0.004000	0.12327	0.003000	0.03518	1.080000	0.30779	2.263000	0.75096	0.591000	0.81541	ACC		0.473	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		11	68	0	0	0	0.000978	0	11	68				
OR5T1	390155	broad.mit.edu	37	11	56043396	56043397	+	Missense_Mutation	DNP	GG	GG	TT	rs113612396		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:56043396_56043397GG>TT	ENST00000313033.2	+	1	368_369	c.282_283GG>TT	c.(280-285)ttGGtc>ttTTtc	p.94_95LV>FF		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L94_V95>FF(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CAAAAATGTTGGTCAATTTCCT	0.376																																							uc001nio.1		NA																	1	Complex - compound substitution(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(280-285)TTGGTC>TTTTTC		olfactory receptor, family 5, subfamily T,																																				SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043396_56043397GG>TT	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	Exception_encountered	11.37:g.56043396_56043397delinsTT	ENSP00000323612:p.L94_V95delinsFF						p.94_95LV>FF	NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN			1	282_283	+	Esophageal squamous(21;0.00448)		94_95			Extracellular (Potential).		B2RNM9	Missense_Mutation	DNP	ENST00000313033.2	37	c.282_283GG>TT	CCDS31525.1																																																																																				0.376	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		32	101	0	0	0	0.004672	0	32	101				
OR1S2	219958	broad.mit.edu	37	11	57970951	57970951	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:57970951T>C	ENST00000302592.6	-	1	702	c.703A>G	c.(703-705)Atc>Gtc	p.I235V		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I235V(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				ACAGCTCTGATGATGCAGACA	0.438																																							uc010rkb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(703-705)ATC>GTC		olfactory receptor, family 1, subfamily S,							147.0	123.0	131.0					11																	57970951		2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57970951T>C	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.703A>G	11.37:g.57970951T>C	ENSP00000305469:p.Ile235Val						p.I235V	NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN			1	703	-		Breast(21;0.0589)	235			Cytoplasmic (Potential).		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.703A>G	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	T	0.063	-1.220192	0.01542	.	.	ENSG00000197887	ENST00000302592	T	0.00145	8.67	4.75	-1.29	0.09288	GPCR, rhodopsin-like superfamily (1);	0.426694	0.19591	N	0.110608	T	0.00039	0.0001	N	0.04018	-0.295	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.34875	-0.9811	10	0.02654	T	1	.	5.978	0.19391	0.125:0.3803:0.0:0.4947	.	235	Q8NGQ3	OR1S2_HUMAN	V	235	ENSP00000305469:I235V	ENSP00000305469:I235V	I	-	1	0	OR1S2	57727527	0.000000	0.05858	0.127000	0.21898	0.979000	0.70002	-0.217000	0.09253	-0.302000	0.08869	0.533000	0.62120	ATC		0.438	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		13	39	0	0	0	0.001368	0	13	39				
OR10V1	390201	broad.mit.edu	37	11	59481191	59481191	+	Missense_Mutation	SNP	G	G	T	rs542352134		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:59481191G>T	ENST00000307552.2	-	1	146	c.128C>A	c.(127-129)gCt>gAt	p.A43D	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A43D(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TGCAATTGTAGCATTTCCACC	0.443																																							uc001nof.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(127-129)GCT>GAT		olfactory receptor, family 10, subfamily V,							75.0	72.0	73.0					11																	59481191		2201	4295	6496	SO:0001583	missense	390201				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59481191G>T	AB065807	CCDS31565.1	11q12.1	2012-08-09			ENSG00000172289	ENSG00000172289		"""GPCR / Class A : Olfactory receptors"""	15136	protein-coding gene	gene with protein product							Standard	NM_001005324		Approved		uc001nof.1	Q8NGI7	OTTHUMG00000167406	ENST00000307552.2:c.128C>A	11.37:g.59481191G>T	ENSP00000302199:p.Ala43Asp						p.A43D	NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN			1	128	-			43			Helical; Name=1; (Potential).		Q6IFD9|Q96R50	Missense_Mutation	SNP	ENST00000307552.2	37	c.128C>A	CCDS31565.1	.	.	.	.	.	.	.	.	.	.	G	9.733	1.162823	0.21538	.	.	ENSG00000172289	ENST00000307552	T	0.00958	5.5	4.57	2.68	0.31781	GPCR, rhodopsin-like superfamily (1);	0.549831	0.16381	N	0.216919	T	0.01387	0.0045	M	0.70842	2.15	0.09310	N	1	P	0.40266	0.71	B	0.35727	0.209	T	0.46289	-0.9202	10	0.49607	T	0.09	.	6.7673	0.23575	0.2887:0.0:0.7113:0.0	.	43	Q8NGI7	O10V1_HUMAN	D	43	ENSP00000302199:A43D	ENSP00000302199:A43D	A	-	2	0	OR10V1	59237767	0.000000	0.05858	0.002000	0.10522	0.726000	0.41606	0.781000	0.26774	0.685000	0.31468	0.543000	0.68304	GCT		0.443	OR10V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394517.1	NM_001005324		11	31	1	0	6.40141e-05	0.000978	8.01272e-05	11	31				
TUT1	64852	broad.mit.edu	37	11	62358944	62358944	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:62358944T>C	ENST00000476907.1	-	1	705	c.14A>G	c.(13-15)gAt>gGt	p.D5G	MIR3654_ENST00000496634.2_Missense_Mutation_p.D5G|TUT1_ENST00000308436.7_Missense_Mutation_p.D43G			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	5					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)	p.D43G(1)|p.D5G(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GACATCCGAATCCACCGCCGC	0.622																																							uc001nto.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(127-129)GAT>GGT		terminal uridylyl transferase 1, U6							42.0	46.0	45.0					11																	62358944		2201	4299	6500	SO:0001583	missense	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62358944T>C	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.14A>G	11.37:g.62358944T>C	ENSP00000419607:p.Asp5Gly						p.D43G	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN			1	166	-			5					A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Missense_Mutation	SNP	ENST00000476907.1	37	c.128A>G		.	.	.	.	.	.	.	.	.	.	T	16.08	3.020984	0.54576	.	.	ENSG00000149016	ENST00000308436;ENST00000476907;ENST00000278279	T;T	0.42900	0.96;0.98	5.74	2.16	0.27623	.	0.542979	0.19387	N	0.115511	T	0.25344	0.0616	N	0.24115	0.695	0.23016	N	0.998422	B	0.12013	0.005	B	0.11329	0.006	T	0.19582	-1.0301	10	0.72032	D	0.01	-4.1903	4.7889	0.13239	0.0:0.2395:0.1501:0.6104	.	43	F5H0R1	.	G	43;5;5	ENSP00000308000:D43G;ENSP00000419607:D5G	ENSP00000441670:D5G	D	-	2	0	TUT1	62115520	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	0.930000	0.28858	0.115000	0.18071	0.533000	0.62120	GAT		0.622	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		7	34	0	0	0	0.00308	0	7	34				
CHRM1	1128	broad.mit.edu	37	11	62677634	62677634	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:62677634G>A	ENST00000306960.3	-	2	1480	c.939C>T	c.(937-939)gcC>gcT	p.A313A	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	313					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.A313A(1)		large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	GCTTGGTGGGGGCCTGTGCCT	0.617																																							uc001nwi.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(937-939)GCC>GCT		cholinergic receptor, muscarinic 1	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)						58.0	65.0	62.0					11																	62677634		2201	4298	6499	SO:0001819	synonymous_variant	1128				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding	g.chr11:62677634G>A	Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1950	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 1"""	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.939C>T	11.37:g.62677634G>A							p.A313A	NM_000738	NP_000729	P11229	ACM1_HUMAN			2	1340	-			313			Cytoplasmic (Potential).		Q96RH1	Silent	SNP	ENST00000306960.3	37	c.939C>T	CCDS8040.1																																																																																				0.617	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1	NM_000738		6	76	0	0	0	0.001168	0	6	76				
SPDYC	387778	broad.mit.edu	37	11	64940419	64940419	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:64940419G>A	ENST00000377185.2	+	6	863	c.781G>A	c.(781-783)Ggt>Agt	p.G261S	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C									p.G261S(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						AAACGCCTGGGGTGGGGACTT	0.567																																							uc010rnz.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(781-783)GGT>AGT		speedy C							65.0	72.0	69.0					11																	64940419		2200	4296	6496	SO:0001583	missense	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64940419G>A	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.781G>A	11.37:g.64940419G>A	ENSP00000366390:p.Gly261Ser						p.G261S	NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN			6	781	+			261						Missense_Mutation	SNP	ENST00000377185.2	37	c.781G>A	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	G	8.426	0.847451	0.17034	.	.	ENSG00000204710	ENST00000377185	.	.	.	4.02	-3.19	0.05171	.	1.916530	0.03158	U	0.168927	T	0.16557	0.0398	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.09422	-1.0675	9	0.09590	T	0.72	.	1.7925	0.03054	0.3562:0.13:0.382:0.1319	.	261	Q5MJ68	SPDYC_HUMAN	S	261	.	ENSP00000366390:G261S	G	+	1	0	SPDYC	64696995	0.001000	0.12720	0.000000	0.03702	0.121000	0.20230	-0.451000	0.06795	-0.394000	0.07727	0.655000	0.94253	GGT		0.567	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		11	75	0	0	0	0.000978	0	11	75				
LRP5	4041	broad.mit.edu	37	11	68183797	68183797	+	Splice_Site	SNP	G	G	A	rs201018263		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:68183797G>A	ENST00000294304.7	+	13	2935	c.2829G>A	c.(2827-2829)ccG>ccA	p.P943P		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	943					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.P943P(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCCTCTAGCGCCCACCACCT	0.602																																							uc001ont.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(2827-2829)CCG>CCA		low density lipoprotein receptor-related protein		G		0,4400		0,0,2200	85.0	78.0	80.0		2829	-9.0	0.1	11		80	5,8583	4.3+/-15.6	0,5,4289	yes	coding-synonymous-near-splice	LRP5	NM_002335.2		0,5,6489	AA,AG,GG		0.0582,0.0,0.0385		943/1616	68183797	5,12983	2200	4294	6494	SO:0001630	splice_region_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68183797G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.2828-1G>A	11.37:g.68183797G>A						LRP5_uc009ysg.2_Silent_p.P353P	p.P943P	NM_002335	NP_002326	O75197	LRP5_HUMAN			13	2904	+			943			Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.2829G>A	CCDS8181.1																																																																																				0.602	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335	Silent	32	27	0	0	0	0.005524	0	32	27				
PCF11	51585	broad.mit.edu	37	11	82893518	82893518	+	Silent	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:82893518T>C	ENST00000298281.4	+	14	4853	c.4401T>C	c.(4399-4401)atT>atC	p.I1467I	RP11-727A23.4_ENST00000528133.1_RNA	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1467					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.I1467I(1)|p.I1566I(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAAATGCTATTAGAGTAGATG	0.313																																							uc001ozx.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(4399-4401)ATT>ATC		pre-mRNA cleavage complex II protein Pcf11							70.0	69.0	69.0					11																	82893518		1810	4072	5882	SO:0001819	synonymous_variant	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82893518T>C	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.4401T>C	11.37:g.82893518T>C							p.I1467I	NM_015885	NP_056969	O94913	PCF11_HUMAN			14	4746	+			1467					A6H8W7|O43671|Q6P0X8	Silent	SNP	ENST00000298281.4	37	c.4401T>C	CCDS44689.1																																																																																				0.313	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		11	30	0	0	0	0.008291	0	11	30				
FAT3	120114	broad.mit.edu	37	11	92532295	92532295	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:92532295G>A	ENST00000298047.6	+	9	6133	c.6116G>A	c.(6115-6117)gGa>gAa	p.G2039E	FAT3_ENST00000409404.2_Missense_Mutation_p.G2039E|FAT3_ENST00000525166.1_Missense_Mutation_p.G1889E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2039	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G2039E(2)		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)				CAGACGACTGGAGTCCCCTTT	0.483										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(6115-6117)GGA>GAA		FAT tumor suppressor homolog 3							55.0	56.0	56.0					11																	92532295		1886	4121	6007	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532295G>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.6116G>A	11.37:g.92532295G>A	ENSP00000298047:p.Gly2039Glu	TCGA Ovarian(4;0.039)					p.G2039E	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	6133	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2039			Extracellular (Potential).|Cadherin 18.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6116G>A		.	.	.	.	.	.	.	.	.	.	G	19.74	3.883677	0.72410	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.49139	0.79;0.79;0.79	5.71	5.71	0.89125	.	.	.	.	.	T	0.74253	0.3692	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77640	-0.2512	9	0.87932	D	0	.	19.8415	0.96690	0.0:0.0:1.0:0.0	.	2039	Q8TDW7-3	.	E	2039;2039;1889	ENSP00000298047:G2039E;ENSP00000387040:G2039E;ENSP00000432586:G1889E	ENSP00000298047:G2039E	G	+	2	0	FAT3	92171943	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.787000	0.99055	2.700000	0.92200	0.655000	0.94253	GGA		0.483	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		9	40	0	0	0	0.004482	0	9	40				
TMPRSS13	84000	broad.mit.edu	37	11	117787940	117787940	+	Silent	SNP	C	C	A	rs566188858	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:117787940C>A	ENST00000430170.2	-	3	588	c.501G>T	c.(499-501)ccG>ccT	p.P167P	TMPRSS13_ENST00000524993.1_Silent_p.P167P|TMPRSS13_ENST00000528626.1_Intron|TMPRSS13_ENST00000526090.1_Silent_p.P167P|TMPRSS13_ENST00000445164.2_Silent_p.P167P	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	167						blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.P167P(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		ACCCGATGAGCGGTAGCTGCT	0.627																																							uc001prs.1		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(499-501)CCG>CCT		transmembrane protease, serine 13							42.0	52.0	49.0					11																	117787940		2057	4193	6250	SO:0001819	synonymous_variant	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117787940C>A	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.501G>T	11.37:g.117787940C>A						TMPRSS13_uc009yzr.1_Intron|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Silent_p.P167P	p.P167P	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	3	594	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	162			Helical; Signal-anchor for type II membrane protein; (Potential).		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000430170.2	37	c.501G>T	CCDS58185.1																																																																																				0.627	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		12	16	1	0	0.00185496	0.001855	0.00211871	12	16				
HMBS	3145	broad.mit.edu	37	11	118960402	118960402	+	Silent	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:118960402G>C	ENST00000278715.3	+	6	427	c.276G>C	c.(274-276)ctG>ctC	p.L92L	HMBS_ENST00000392841.1_Silent_p.L75L|HMBS_ENST00000442944.2_Silent_p.L75L|HMBS_ENST00000543090.1_Silent_p.L74L|HMBS_ENST00000544387.1_Silent_p.L92L|HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000537841.1_Silent_p.L75L|HMBS_ENST00000542729.1_Silent_p.L75L	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	92			L -> P (in AIP). {ECO:0000269|PubMed:12372055}.		heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)	p.L92L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GAGTGGACCTGGTTGTTCACT	0.562																																							uc001puz.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(274-276)CTG>CTC		hydroxymethylbilane synthase isoform 1							86.0	79.0	81.0					11																	118960402		2200	4295	6495	SO:0001819	synonymous_variant	3145	Porphyria_Acute_Intermittent			peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity	g.chr11:118960402G>C	X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"""uroporphyrinogen I synthase"", ""porphobilinogen deaminase"", ""porphyria, acute; Chester type"""	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.276G>C	11.37:g.118960402G>C						HMBS_uc009zao.1_Silent_p.L37L|HMBS_uc001pvc.1_Silent_p.L37L|HMBS_uc009zap.1_Silent_p.L75L|HMBS_uc001pva.1_Silent_p.L92L|HMBS_uc001pvb.1_Silent_p.L74L|HMBS_uc001pvd.1_Silent_p.L75L|HMBS_uc001pve.1_Silent_p.L75L|HMBS_uc001pvf.1_Silent_p.L75L	p.L92L	NM_000190	NP_000181	P08397	HEM3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	6	433	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	92		L -> P (in AIP).			A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Silent	SNP	ENST00000278715.3	37	c.276G>C	CCDS8409.1																																																																																				0.562	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	NM_000190		15	15	0	0	0	0.004007	0	15	15				
GRIK4	2900	broad.mit.edu	37	11	120776196	120776196	+	Silent	SNP	C	C	T	rs375591719		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:120776196C>T	ENST00000527524.2	+	13	1757	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	GRIK4_ENST00000438375.2_Silent_p.I490I	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	490					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.I490I(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GGGAGCTGATCGCTAGGGTAA	0.592																																							uc001pxn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1468-1470)ATC>ATT		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)						77.0	76.0	77.0					11																	120776196		2203	4299	6502	SO:0001819	synonymous_variant	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120776196C>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1470C>T	11.37:g.120776196C>T						GRIK4_uc009zav.1_Silent_p.I490I|GRIK4_uc009zaw.1_Silent_p.I490I|GRIK4_uc009zax.1_Silent_p.I490I	p.I490I	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	13	1757	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	490			Extracellular (Potential).		A8K9L1	Silent	SNP	ENST00000527524.2	37	c.1470C>T	CCDS8433.1																																																																																				0.592	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		27	83	0	0	0	0.004656	0	27	83				
GRAMD1B	57476	broad.mit.edu	37	11	123471196	123471196	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:123471196G>T	ENST00000529750.1	+	7	888	c.561G>T	c.(559-561)ggG>ggT	p.G187G	GRAMD1B_ENST00000322282.7_Silent_p.G187G|GRAMD1B_ENST00000456860.2_Silent_p.G194G	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	187						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.G187G(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CTTCGTTTGGGGCCCGGGATA	0.418																																							uc001pyx.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(559-561)GGG>GGT		GRAM domain containing 1B							93.0	86.0	88.0					11																	123471196		1838	4088	5926	SO:0001819	synonymous_variant	57476					integral to membrane		g.chr11:123471196G>T	AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.561G>T	11.37:g.123471196G>T						GRAMD1B_uc001pyw.2_Silent_p.G194G|GRAMD1B_uc010rzw.1_Silent_p.G147G|GRAMD1B_uc010rzx.1_Silent_p.G147G|GRAMD1B_uc009zbe.1_Silent_p.G183G	p.G187G	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)	7	890	+		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	187					Q6UW85|Q9ULL9	Silent	SNP	ENST00000529750.1	37	c.561G>T	CCDS53720.1																																																																																				0.418	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387404.2	XM_370660		14	24	1	0	0.00074312	0.006122	0.000863626	14	24				
Unknown	0	broad.mit.edu	37	11	124095992	124095992	+	IGR	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:124095992G>T								OR10D3 (39040 upstream) : OR8G1 (24430 downstream)																							CCCTCTCTTGGGGCTCTCCTG	0.428																																							uc010saf.1		NA																	0					0						c.(595-597)GGG>TGG		olfactory receptor, family 8, subfamily G,							159.0	164.0	163.0					11																	124095992		1957	4176	6133	SO:0001628	intergenic_variant	26492					integral to membrane	olfactory receptor activity	g.chr11:124095992G>T																													11.37:g.124095992G>T							p.G199W	NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	595	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	199						Missense_Mutation	SNP		37	c.595G>T																																																																																				0	0.428									5	249	1	0	0.000602214	0.000602	0.000706611	5	249				
PTPN6	5777	broad.mit.edu	37	12	7064898	7064898	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:7064898C>T	ENST00000318974.9	+	7	1067	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	PTPN6_ENST00000447931.2_Missense_Mutation_p.R236C|PTPN6_ENST00000456013.1_Missense_Mutation_p.R275C|PTPN6_ENST00000399448.1_Missense_Mutation_p.R277C	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	275	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R275C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GGGCAAGAACCGCTACAAGAA	0.597																																							uc001qsb.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(823-825)CGC>TGC		protein tyrosine phosphatase, non-receptor type							90.0	107.0	101.0					12																	7064898		2105	4225	6330	SO:0001583	missense	5777				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	g.chr12:7064898C>T		CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.823C>T	12.37:g.7064898C>T	ENSP00000326010:p.Arg275Cys					PTPN6_uc001qsa.1_Missense_Mutation_p.R277C|PTPN6_uc010sfr.1_Missense_Mutation_p.R236C|PTPN6_uc009zfl.1_Missense_Mutation_p.R275C|PTPN6_uc010sfs.1_Missense_Mutation_p.R263C	p.R275C	NM_002831	NP_002822	P29350	PTN6_HUMAN			7	1065	+			275			Tyrosine-protein phosphatase.		A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	c.823C>T	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489405	0.84962	.	.	ENSG00000111679	ENST00000399448;ENST00000447931;ENST00000318974;ENST00000456013	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	5.4	5.4	0.78164	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.97816	0.9283	H	0.99600	4.65	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;1.0	D	0.99636	1.0987	10	0.87932	D	0	.	19.1798	0.93619	0.0:1.0:0.0:0.0	.	263;236;275;275;277	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	C	277;236;275;275	ENSP00000382376:R277C;ENSP00000415979:R236C;ENSP00000326010:R275C;ENSP00000391592:R275C	ENSP00000326010:R275C	R	+	1	0	PTPN6	6935159	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	3.788000	0.55446	2.537000	0.85549	0.561000	0.74099	CGC		0.597	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1	NM_002831		7	20	0	0	0	0.001984	0	7	20				
ATF7IP	55729	broad.mit.edu	37	12	14577856	14577856	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:14577856A>T	ENST00000540793.1	+	1	1162	c.1007A>T	c.(1006-1008)gAt>gTt	p.D336V	ATF7IP_ENST00000261168.4_Missense_Mutation_p.D336V|ATF7IP_ENST00000544627.1_Missense_Mutation_p.D344V|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.D336V|ATF7IP_ENST00000536444.1_Missense_Mutation_p.D336V			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	336					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.D336V(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GACTCATTGGATGAGAAAAAT	0.299																																							uc001rbw.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|skin(1)	5						c.(1006-1008)GAT>GTT		activating transcription factor 7 interacting							49.0	55.0	53.0					12																	14577856		2200	4299	6499	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14577856A>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1007A>T	12.37:g.14577856A>T	ENSP00000444589:p.Asp336Val					ATF7IP_uc010shs.1_Missense_Mutation_p.D336V|ATF7IP_uc001rbu.2_Missense_Mutation_p.D336V|ATF7IP_uc001rbv.1_Missense_Mutation_p.D336V|ATF7IP_uc001rbx.2_Missense_Mutation_p.D336V|ATF7IP_uc010sht.1_Missense_Mutation_p.D336V|ATF7IP_uc001rby.3_Missense_Mutation_p.D336V|ATF7IP_uc001rbz.1_Missense_Mutation_p.D336V|ATF7IP_uc001rca.2_Missense_Mutation_p.D336V|ATF7IP_uc001rcb.2_5'Flank	p.D336V	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			2	1165	+			336					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.1007A>T	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	A	13.77	2.336660	0.41398	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.32988	1.84;1.83;1.84;1.84;1.43;1.84	5.73	4.52	0.55395	.	0.287492	0.29995	N	0.010667	T	0.41719	0.1171	L	0.51422	1.61	0.54753	D	0.999986	D;D;P;P;P	0.56746	0.977;0.977;0.879;0.879;0.928	P;P;P;P;P	0.55923	0.787;0.787;0.494;0.494;0.55	T	0.33343	-0.9872	10	0.87932	D	0	-9.2898	11.8316	0.52299	0.8539:0.1461:0.0:0.0	.	344;336;336;336;336	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2	.;.;.;MCAF1_HUMAN;.	V	336;336;336;344;336;336	ENSP00000261168:D336V;ENSP00000443179:D336V;ENSP00000445955:D336V;ENSP00000440440:D344V;ENSP00000379575:D336V;ENSP00000444589:D336V	ENSP00000261168:D336V	D	+	2	0	ATF7IP	14469123	0.999000	0.42202	0.855000	0.33649	0.705000	0.40729	3.745000	0.55119	2.302000	0.77476	0.533000	0.62120	GAT		0.299	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		26	42	0	0	0	0.003954	0	26	42				
OVCH1	341350	broad.mit.edu	37	12	29648274	29648274	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:29648274C>A	ENST00000318184.5	-	4	397	c.398G>T	c.(397-399)cGt>cTt	p.R133L		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	133	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> C (in dbSNP:rs10843438).			extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.R133L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CATATATTCACGGCTGTTGTA	0.373																																							uc001rix.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(397-399)CGT>CTT		ovochymase 1 precursor							189.0	177.0	180.0					12																	29648274		1835	4085	5920	SO:0001583	missense	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29648274C>A	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.398G>T	12.37:g.29648274C>A	ENSP00000326708:p.Arg133Leu						p.R133L	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			4	398	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		133			Peptidase S1 1.			Missense_Mutation	SNP	ENST00000318184.5	37	c.398G>T		.	.	.	.	.	.	.	.	.	.	C	0.006	-2.078497	0.00375	.	.	ENSG00000187950	ENST00000318184	D	0.88896	-2.44	2.68	-1.56	0.08532	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.72179	0.3428	N	0.16066	0.365	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57124	-0.7865	9	0.08599	T	0.76	.	3.905	0.09178	0.4397:0.1856:0.0:0.3746	.	133	Q7RTY7	OVCH1_HUMAN	L	133	ENSP00000326708:R133L	ENSP00000326708:R133L	R	-	2	0	OVCH1	29539541	0.000000	0.05858	0.002000	0.10522	0.158000	0.22134	-0.496000	0.06436	-0.287000	0.09064	-1.259000	0.01468	CGT		0.373	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		10	165	1	0	3.07112e-06	0.000978	4.13441e-06	10	165				
AMN1	196394	broad.mit.edu	37	12	31862270	31862270	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:31862270A>C	ENST00000281471.6	-	2	293	c.128T>G	c.(127-129)aTa>aGa	p.I43R	AMN1_ENST00000541541.1_5'UTR|AMN1_ENST00000537562.1_Missense_Mutation_p.I25R|AMN1_ENST00000541931.1_Intron|AMN1_ENST00000542781.1_Intron|AMN1_ENST00000536761.1_Missense_Mutation_p.I25R	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)	43								p.I43R(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			CATACTCATTATTTTAATCAG	0.328																																							uc001rkq.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(127-129)ATA>AGA		antagonist of mitotic exit network 1 homolog							193.0	177.0	182.0					12																	31862270		1836	4083	5919	SO:0001583	missense	196394							g.chr12:31862270A>C		CCDS44858.1, CCDS61089.1	12p11.21	2010-07-19			ENSG00000151743	ENSG00000151743			27281	protein-coding gene	gene with protein product							Standard	NM_001113402		Approved		uc001rkq.4	Q8IY45	OTTHUMG00000169192	ENST00000281471.6:c.128T>G	12.37:g.31862270A>C	ENSP00000281471:p.Ile43Arg					AMN1_uc001rko.3_Missense_Mutation_p.I25R|AMN1_uc010skc.1_Missense_Mutation_p.I25R|AMN1_uc001rkp.3_Missense_Mutation_p.I25R|AMN1_uc009zjs.2_Intron|AMN1_uc009zjt.1_Intron	p.I43R	NM_001113402	NP_001106873	Q8IY45	AMN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0014)		2	294	-	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		43					B7Z7J3|Q6NVU4|Q86X98	Missense_Mutation	SNP	ENST00000281471.6	37	c.128T>G	CCDS44858.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.463918	0.63513	.	.	ENSG00000151743	ENST00000281471;ENST00000537562;ENST00000536761;ENST00000535408;ENST00000537960;ENST00000506446;ENST00000457428	T;T;T;T	0.13307	2.6;2.61;2.61;2.67	5.62	5.62	0.85841	.	.	.	.	.	T	0.11707	0.0285	L	0.32530	0.975	0.80722	D	1	P	0.39216	0.664	B	0.42462	0.388	T	0.17289	-1.0374	9	0.11182	T	0.66	.	9.6452	0.39863	0.9218:0.0:0.0782:0.0	.	43	Q8IY45	AMN1_HUMAN	R	43;25;25;25;25;25;25	ENSP00000281471:I43R;ENSP00000441419:I25R;ENSP00000440967:I25R;ENSP00000438990:I25R	ENSP00000281471:I43R	I	-	2	0	AMN1	31753537	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.818000	0.48041	2.130000	0.65690	0.383000	0.25322	ATA		0.328	AMN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402807.2	NR_004854		6	56	0	0	0	0.001984	0	6	56				
KIAA1551	55196	broad.mit.edu	37	12	32135455	32135455	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:32135455G>A	ENST00000312561.4	+	4	1980	c.1566G>A	c.(1564-1566)gtG>gtA	p.V522V	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	522								p.V522V(1)									CTCATGATGTGAAAGTTCTCA	0.393																																							uc001rks.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1564-1566)GTG>GTA		hypothetical protein LOC55196							53.0	51.0	52.0					12																	32135455		2203	4300	6503	SO:0001819	synonymous_variant	55196							g.chr12:32135455G>A	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1566G>A	12.37:g.32135455G>A							p.V522V	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	1980	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		522					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Silent	SNP	ENST00000312561.4	37	c.1566G>A	CCDS8725.2																																																																																				0.393	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2	NM_018169		3	54	0	0	0	0.004672	0	3	54				
ADCY6	112	broad.mit.edu	37	12	49172026	49172026	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:49172026C>A	ENST00000307885.4	-	2	1573	c.879G>T	c.(877-879)gtG>gtT	p.V293V	ADCY6_ENST00000552090.1_5'Flank|ADCY6_ENST00000550422.1_Silent_p.V293V|ADCY6_ENST00000357869.3_Silent_p.V293V	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	293					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.V293V(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGAACAGCAGCACATTGGCAC	0.572																																							uc001rsh.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(877-879)GTG>GTT		adenylate cyclase 6 isoform a							119.0	88.0	99.0					12																	49172026		2203	4300	6503	SO:0001819	synonymous_variant	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49172026C>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.879G>T	12.37:g.49172026C>A						ADCY6_uc001rsj.3_Silent_p.V293V|ADCY6_uc001rsi.3_Silent_p.V293V	p.V293V	NM_015270	NP_056085	O43306	ADCY6_HUMAN			2	1539	-			293			Helical; (Potential).		Q9NR75|Q9UDB0	Silent	SNP	ENST00000307885.4	37	c.879G>T	CCDS8767.1																																																																																				0.572	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	NM_020983		6	42	1	0	0.00198382	0.001984	0.00223792	6	42				
LARP4	113251	broad.mit.edu	37	12	50829370	50829370	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:50829370G>T	ENST00000398473.2	+	5	610	c.498G>T	c.(496-498)ttG>ttT	p.L166F	LARP4_ENST00000522085.1_Missense_Mutation_p.L166F|LARP4_ENST00000347328.5_Missense_Mutation_p.L166F|LARP4_ENST00000293618.8_Missense_Mutation_p.L166F|LARP4_ENST00000518561.1_Missense_Mutation_p.L96F|LARP4_ENST00000429001.3_Missense_Mutation_p.L172F|LARP4_ENST00000518444.1_Missense_Mutation_p.L165F	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	166	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.L166F(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TAAAAAAGTTGACTACAGACC	0.299																																							uc001rwp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(496-498)TTG>TTT		c-Mpl binding protein isoform a							96.0	93.0	94.0					12																	50829370		1816	4071	5887	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50829370G>T	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.498G>T	12.37:g.50829370G>T	ENSP00000381490:p.Leu166Phe					LARP4_uc001rwo.1_Missense_Mutation_p.L172F|LARP4_uc001rwq.1_Missense_Mutation_p.L166F|LARP4_uc001rwr.1_Missense_Mutation_p.L166F|LARP4_uc001rws.1_Missense_Mutation_p.L165F|LARP4_uc009zlr.1_5'Flank|LARP4_uc001rwm.2_Missense_Mutation_p.L166F|LARP4_uc001rwn.2_Missense_Mutation_p.L96F	p.L166F	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN			5	642	+			166			HTH La-type RNA-binding.		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.498G>T	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672394	0.67928	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000548993;ENST00000398473;ENST00000441650;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000551886;ENST00000518561;ENST00000347328;ENST00000550260	T;T;T;T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15	5.49	4.54	0.55810	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (3);	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	M	0.81614	2.55	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.979;0.999;1.0	D;D;D;D;D	0.91635	0.997;0.999;0.936;0.992;0.994	T	0.79607	-0.1733	10	0.87932	D	0	.	13.077	0.59093	0.0853:0.0:0.9147:0.0	.	165;166;166;166;172	Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	F	166;172;96;166;96;166;166;165;165;96;166;164	ENSP00000293618:L166F;ENSP00000415464:L172F;ENSP00000446966:L96F;ENSP00000381490:L166F;ENSP00000429781:L166F;ENSP00000429077:L165F;ENSP00000447408:L165F;ENSP00000430851:L96F;ENSP00000340901:L166F;ENSP00000448756:L164F	ENSP00000293618:L166F	L	+	3	2	LARP4	49115637	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.123000	0.50453	1.324000	0.45282	0.561000	0.74099	TTG		0.299	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		13	64	1	0	6.81908e-15	0.00245	1.16739e-14	13	64				
KRT82	3888	broad.mit.edu	37	12	52799698	52799698	+	Nonsense_Mutation	SNP	C	C	A	rs145722634		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:52799698C>A	ENST00000257974.2	-	1	441	c.364G>T	c.(364-366)Gag>Tag	p.E122*	RP11-1020M18.10_ENST00000548135.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	122	Coil 1A.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.E122*(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		TTGATCTGCTCCTTCTCATCC	0.567																																							uc001sai.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(364-366)GAG>TAG		keratin 82							275.0	245.0	255.0					12																	52799698		2203	4300	6503	SO:0001587	stop_gained	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52799698C>A	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.364G>T	12.37:g.52799698C>A	ENSP00000257974:p.Glu122*						p.E122*	NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	1	479	-			122			Coil 1A.|Rod.			Nonsense_Mutation	SNP	ENST00000257974.2	37	c.364G>T	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	C	38	6.861092	0.97893	.	.	ENSG00000161850	ENST00000257974	.	.	.	5.17	5.17	0.71159	.	0.125329	0.35466	N	0.003189	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0562	0.93066	0.0:1.0:0.0:0.0	.	.	.	.	X	122	.	ENSP00000257974:E122X	E	-	1	0	KRT82	51085965	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.590000	0.82653	2.584000	0.87258	0.655000	0.94253	GAG		0.567	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	NM_033033		18	208	1	0	3.41278e-10	0.00499	5.2743e-10	18	208				
KRT6A	3853	broad.mit.edu	37	12	52883764	52883764	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:52883764T>C	ENST00000330722.6	-	6	1234	c.1166A>G	c.(1165-1167)cAg>cGg	p.Q389R		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	389	Coil 2.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.Q389R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTCAGCCTCTGGATCATGCG	0.557																																							uc001sam.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1165-1167)CAG>CGG		keratin 6A							130.0	103.0	112.0					12																	52883764		2203	4297	6500	SO:0001583	missense	3853				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52883764T>C	BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.1166A>G	12.37:g.52883764T>C	ENSP00000369317:p.Gln389Arg						p.Q389R	NM_005554	NP_005545	P02538	K2C6A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	6	1375	-			389			Rod.|Coil 2.		A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	ENST00000330722.6	37	c.1166A>G	CCDS41786.1	.	.	.	.	.	.	.	.	.	.	t	22.4	4.290302	0.80914	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.91124	-2.79	5.3	5.3	0.74995	Filament (1);	0.000000	0.56097	D	0.000026	D	0.95959	0.8684	M	0.93808	3.46	0.41386	D	0.987583	P	0.48294	0.908	P	0.58391	0.838	D	0.97204	0.9866	10	0.87932	D	0	.	15.5563	0.76196	0.0:0.0:0.0:1.0	.	389	P02538	K2C6A_HUMAN	R	389;345	ENSP00000369317:Q389R	ENSP00000369317:Q389R	Q	-	2	0	KRT6A	51170031	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.655000	0.46707	2.148000	0.66965	0.459000	0.35465	CAG		0.557	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554		10	27	0	0	0	0.004007	0	10	27				
KRT73	319101	broad.mit.edu	37	12	53002076	53002077	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:53002076_53002077CC>AA	ENST00000305748.3	-	9	1560_1561	c.1526_1527GG>TT	c.(1525-1527)gGG>gTT	p.G509V	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	509	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.G509V(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCTGGCTTCCCCACGGGGGCT	0.579																																							uc001sas.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)	6						c.(1525-1527)GGG>GTT		keratin 73																																				SO:0001583	missense	319101					keratin filament	structural molecule activity	g.chr12:53002076_53002077CC>AA	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1526_1527delinsAA	12.37:g.53002076_53002077delinsAA	ENSP00000307014:p.Gly509Val						p.G509V	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	9	1561_1562	-			509			Tail.		Q32MB2	Missense_Mutation	DNP	ENST00000305748.3	37	c.1526_1527GG>TT	CCDS8834.1																																																																																				0.579	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		7	73	0	0	0	0.004672	0	7	73				
ZBTB39	9880	broad.mit.edu	37	12	57398575	57398575	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:57398575C>T	ENST00000300101.2	-	2	212	c.127G>A	c.(127-129)Gcc>Acc	p.A43T		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	43	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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.A43T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GCCTTGTGGGCCGGGAAGGAG	0.582																																							uc001sml.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(127-129)GCC>ACC		zinc finger and BTB domain containing 39							97.0	103.0	101.0					12																	57398575		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57398575C>T	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.127G>A	12.37:g.57398575C>T	ENSP00000300101:p.Ala43Thr					RDH16_uc010sqx.1_5'Flank	p.A43T	NM_014830	NP_055645	O15060	ZBT39_HUMAN			2	213	-			43			BTB.		A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.127G>A	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555682	0.86231	.	.	ENSG00000166860	ENST00000300101	T	0.77098	-1.07	5.93	5.93	0.95920	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89904	0.6850	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90873	0.4747	10	0.87932	D	0	-23.847	17.8376	0.88704	0.0:1.0:0.0:0.0	.	43	O15060	ZBT39_HUMAN	T	43	ENSP00000300101:A43T	ENSP00000300101:A43T	A	-	1	0	ZBTB39	55684842	1.000000	0.71417	0.972000	0.41901	0.984000	0.73092	5.975000	0.70475	2.815000	0.96918	0.561000	0.74099	GCC		0.582	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		36	94	0	0	0	0.005524	0	36	94				
LRIG3	121227	broad.mit.edu	37	12	59274658	59274658	+	Silent	SNP	C	C	T	rs368520634		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:59274658C>T	ENST00000320743.3	-	13	1792	c.1506G>A	c.(1504-1506)acG>acA	p.T502T	LRIG3_ENST00000379141.4_Silent_p.T442T	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	502	Ig-like C2-type 1.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T502T(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTGGCTGAACCGTGATCTGGG	0.423			T	ROS1	NSCLC																																		uc001sqr.2		NA		Dom	yes		12	12q14.1	121227		leucine-rich repeats and immunoglobulin-like domains 3			E					1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)	4						c.(1504-1506)ACG>ACA		leucine-rich repeats and immunoglobulin-like		C	,	1,4405	2.1+/-5.4	0,1,2202	154.0	162.0	160.0		1326,1506	-1.1	1.0	12		160	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LRIG3	NM_001136051.1,NM_153377.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	442/1060,502/1120	59274658	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59274658C>T	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1506G>A	12.37:g.59274658C>T						LRIG3_uc009zqh.2_Silent_p.T442T|LRIG3_uc010ssh.1_RNA	p.T502T	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		13	1752	-			502			Ig-like C2-type 1.		Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.1506G>A	CCDS8960.1																																																																																				0.423	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		17	142	0	0	0	0.008871	0	17	142				
SRGAP1	57522	broad.mit.edu	37	12	64502733	64502733	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:64502733G>A	ENST00000355086.3	+	16	2359	c.1835G>A	c.(1834-1836)aGg>aAg	p.R612K	SRGAP1_ENST00000357825.3_Missense_Mutation_p.R589K|SRGAP1_ENST00000543397.1_Missense_Mutation_p.R549K|RP11-196H14.4_ENST00000535806.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	612	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.R612K(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTCTATGAGAGGGCGCTTCAC	0.453																																							uc010ssp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1834-1836)AGG>AAG		SLIT-ROBO Rho GTPase activating protein 1							138.0	120.0	126.0					12																	64502733		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64502733G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1835G>A	12.37:g.64502733G>A	ENSP00000347198:p.Arg612Lys					SRGAP1_uc001srv.2_Missense_Mutation_p.R549K	p.R612K	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	16	1891	+			612			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1835G>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	35	5.582588	0.96578	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.20200	2.09;2.09;2.09	5.2	5.2	0.72013	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.38959	U	0.001502	T	0.41558	0.1164	L	0.52364	1.645	0.80722	D	1	D;D	0.64830	0.994;0.963	D;P	0.68039	0.955;0.83	T	0.02691	-1.1123	9	.	.	.	.	19.6294	0.95694	0.0:0.0:1.0:0.0	.	612;549	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	K	612;589;549	ENSP00000347198:R612K;ENSP00000350480:R589K;ENSP00000437948:R549K	.	R	+	2	0	SRGAP1	62789000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.697000	0.98697	2.822000	0.97130	0.650000	0.86243	AGG		0.453	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			4	87	0	0	0	0.009096	0	4	87				
RAB3IP	117177	broad.mit.edu	37	12	70209151	70209151	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:70209151G>T	ENST00000247833.7	+	11	1684	c.1308G>T	c.(1306-1308)caG>caT	p.Q436H	RAB3IP_ENST00000550536.1_Missense_Mutation_p.Q452H|RAB3IP_ENST00000325555.9_Missense_Mutation_p.Q230H|RAB3IP_ENST00000550847.1_Missense_Mutation_p.Q143H|AC025263.3_ENST00000550437.1_Intron|RAB3IP_ENST00000553099.1_Missense_Mutation_p.Q230H|RAB3IP_ENST00000483530.2_3'UTR|RAB3IP_ENST00000362025.5_3'UTR|RAB3IP_ENST00000551641.1_Missense_Mutation_p.Q230H					RAB3A interacting protein									p.Q452H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			TAGTTGATCAGATGTTTTGGG	0.358																																							uc001svp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1354-1356)CAG>CAT		RAB3A interacting protein isoform alpha 2							172.0	162.0	166.0					12																	70209151		2203	4300	6503	SO:0001583	missense	117177				cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	g.chr12:70209151G>T		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.1308G>T	12.37:g.70209151G>T	ENSP00000247833:p.Gln436His					RAB3IP_uc001svm.2_Missense_Mutation_p.Q436H|RAB3IP_uc001svn.2_3'UTR|RAB3IP_uc001svo.2_RNA|RAB3IP_uc001svq.2_3'UTR|RAB3IP_uc001svr.2_RNA|RAB3IP_uc001svs.2_RNA|RAB3IP_uc001svt.2_Missense_Mutation_p.Q230H	p.Q452H	NM_175623	NP_783322	Q96QF0	RAB3I_HUMAN	Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)		11	1803	+	Esophageal squamous(21;0.187)		452						Missense_Mutation	SNP	ENST00000247833.7	37	c.1356G>T	CCDS8995.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955169	0.34471	.	.	ENSG00000127328	ENST00000247833;ENST00000325555;ENST00000550536;ENST00000551641;ENST00000553099;ENST00000550847	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.65	3.82	0.43975	.	0.053064	0.85682	N	0.000000	T	0.43055	0.1230	M	0.62723	1.935	0.58432	D	0.999994	B	0.06786	0.001	B	0.06405	0.002	T	0.34054	-0.9844	10	0.54805	T	0.06	.	8.5596	0.33503	0.138:0.1275:0.7345:0.0	.	452	Q96QF0	RAB3I_HUMAN	H	436;230;452;230;230;143	ENSP00000247833:Q436H;ENSP00000323349:Q230H;ENSP00000447300:Q452H;ENSP00000448773:Q230H;ENSP00000448027:Q230H;ENSP00000448102:Q143H	ENSP00000247833:Q436H	Q	+	3	2	RAB3IP	68495418	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.692000	0.47018	0.732000	0.32470	0.591000	0.81541	CAG		0.358	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456		25	68	1	0	2.44723e-14	0.004656	4.15064e-14	25	68				
PTPRB	5787	broad.mit.edu	37	12	70954551	70954551	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:70954551C>A	ENST00000261266.5	-	15	3707	c.3678G>T	c.(3676-3678)gaG>gaT	p.E1226D	PTPRB_ENST00000550857.1_Missense_Mutation_p.E1136D|PTPRB_ENST00000451516.2_Missense_Mutation_p.E1136D|PTPRB_ENST00000538708.1_Missense_Mutation_p.E1136D|PTPRB_ENST00000550358.1_Missense_Mutation_p.E1356D|PTPRB_ENST00000551525.1_Missense_Mutation_p.E1443D|PTPRB_ENST00000334414.6_Missense_Mutation_p.E1444D	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1226	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E1226D(2)|p.E1444D(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAAACCGCCACTCCGTCAGGT	0.493																																							uc001swb.3		NA																	3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(3676-3678)GAG>GAT		protein tyrosine phosphatase, receptor type, B							66.0	71.0	70.0					12																	70954551		1983	4167	6150	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70954551C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3678G>T	12.37:g.70954551C>A	ENSP00000261266:p.Glu1226Asp					PTPRB_uc010sto.1_Missense_Mutation_p.E1136D|PTPRB_uc010stp.1_Missense_Mutation_p.E1136D|PTPRB_uc001swc.3_Missense_Mutation_p.E1444D|PTPRB_uc001swa.3_Missense_Mutation_p.E1356D|PTPRB_uc001swd.3_Missense_Mutation_p.E1443D|PTPRB_uc009zrr.1_Missense_Mutation_p.E1323D	p.E1226D	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		15	3708	-	Renal(347;0.236)		1226			Fibronectin type-III 14.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.3678G>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526849	0.27299	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23;0.23;0.23	5.44	2.63	0.31362	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.268439	0.38663	N	0.001603	T	0.59169	0.2174	M	0.80982	2.52	0.35981	D	0.836011	P;P;P;B;P;P;P	0.45634	0.735;0.57;0.863;0.207;0.768;0.661;0.712	B;B;B;B;B;B;P	0.44673	0.287;0.287;0.41;0.041;0.341;0.297;0.457	T	0.65994	-0.6033	10	0.45353	T	0.12	.	7.7759	0.29037	0.0:0.6158:0.0:0.3842	.	1136;1136;1323;1443;1444;1226;1356	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	D	1444;1136;1356;1136;1136;1226;1443;1323	ENSP00000334928:E1444D;ENSP00000393028:E1136D;ENSP00000448058:E1356D;ENSP00000438927:E1136D;ENSP00000447302:E1136D;ENSP00000261266:E1226D;ENSP00000448349:E1443D;ENSP00000446982:E1323D	ENSP00000261266:E1226D	E	-	3	2	PTPRB	69240818	0.806000	0.28996	1.000000	0.80357	0.316000	0.28119	-0.008000	0.12788	0.663000	0.31027	0.563000	0.77884	GAG		0.493	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			17	34	1	0	1.02788e-11	0.00499	1.67346e-11	17	34				
PTPRB	5787	broad.mit.edu	37	12	70960398	70960398	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:70960398C>A	ENST00000261266.5	-	13	3096	c.3067G>T	c.(3067-3069)Gca>Tca	p.A1023S	PTPRB_ENST00000550857.1_Missense_Mutation_p.A933S|PTPRB_ENST00000451516.2_Missense_Mutation_p.A933S|PTPRB_ENST00000538708.1_Intron|PTPRB_ENST00000550358.1_Missense_Mutation_p.A1153S|PTPRB_ENST00000551525.1_Missense_Mutation_p.A1240S|PTPRB_ENST00000334414.6_Missense_Mutation_p.A1241S	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1023	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.A1023S(2)|p.A1241S(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TATCTTTCTGCCACACCAGCA	0.423																																							uc001swb.3		NA																	3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(3067-3069)GCA>TCA		protein tyrosine phosphatase, receptor type, B							151.0	140.0	144.0					12																	70960398		1987	4191	6178	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70960398C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3067G>T	12.37:g.70960398C>A	ENSP00000261266:p.Ala1023Ser					PTPRB_uc010sto.1_Intron|PTPRB_uc010stp.1_Missense_Mutation_p.A933S|PTPRB_uc001swc.3_Missense_Mutation_p.A1241S|PTPRB_uc001swa.3_Missense_Mutation_p.A1153S|PTPRB_uc001swd.3_Missense_Mutation_p.A1240S|PTPRB_uc009zrr.1_Missense_Mutation_p.A1120S	p.A1023S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		13	3097	-	Renal(347;0.236)		1023			Fibronectin type-III 12.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.3067G>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516274	0.27123	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.47	5.47	0.80525	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.314743	0.34906	N	0.003590	T	0.47619	0.1455	M	0.62723	1.935	0.32547	N	0.53286	B;B;B;B;B;B	0.24186	0.011;0.099;0.049;0.097;0.029;0.088	B;B;B;B;B;B	0.29267	0.023;0.1;0.037;0.037;0.038;0.053	T	0.50972	-0.8764	10	0.06891	T	0.86	.	12.639	0.56698	0.0:0.9248:0.0:0.0752	.	933;1120;1240;1241;1023;1153	P23467-2;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;PTPRB_HUMAN;.	S	1241;933;1153;933;1023;1240;1120	ENSP00000334928:A1241S;ENSP00000393028:A933S;ENSP00000448058:A1153S;ENSP00000447302:A933S;ENSP00000261266:A1023S;ENSP00000448349:A1240S;ENSP00000446982:A1120S	ENSP00000261266:A1023S	A	-	1	0	PTPRB	69246665	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.569000	0.36428	2.571000	0.86741	0.655000	0.94253	GCA		0.423	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			22	66	1	0	5.35356e-11	0.00278	8.47067e-11	22	66				
PTPRR	5801	broad.mit.edu	37	12	71029809	71029809	+	IGR	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:71029809A>G	ENST00000283228.2	-	0	3529				PTPRR_ENST00000537619.2_5'Flank|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Silent_p.C31C|PTPRB_ENST00000551525.1_Silent_p.C30C|PTPRB_ENST00000334414.6_Silent_p.C31C	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R						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.C31C(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)		TTTTGAAAAGACACTGTTGTT	0.423																																							uc001swc.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(1)	3						c.(91-93)TGT>TGC		protein tyrosine phosphatase, receptor type, B							90.0	81.0	84.0					12																	71029809		1918	4128	6046	SO:0001628	intergenic_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71029809A>G	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		12.37:g.71029809A>G						PTPRB_uc001swa.3_Silent_p.C31C|PTPRB_uc001swd.3_Silent_p.C30C|PTPRB_uc009zrr.1_Silent_p.C31C|PTPRB_uc001swe.2_Silent_p.C31C	p.C31C	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		2	137	-	Renal(347;0.236)		Error:Variant_position_missing_in_P23467_after_alignment					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Silent	SNP	ENST00000283228.2	37	c.93T>C	CCDS8998.1																																																																																				0.423	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		4	20	0	0	0	0.009096	0	4	20				
SLC6A15	55117	broad.mit.edu	37	12	85285811	85285811	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:85285811G>T	ENST00000266682.5	-	2	630	c.89C>A	c.(88-90)gCt>gAt	p.A30D	SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Intron|SLC6A15_ENST00000450363.3_Missense_Mutation_p.A30D	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	30					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)	p.A30D(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AGCATCATCAGCTGCGTCTTC	0.398																																							uc001szv.2		NA																	2	Substitution - Missense(2)	p.A30T(1)	lung(2)	pancreas(2)|ovary(1)	3						c.(88-90)GCT>GAT		solute carrier family 6, member 15 isoform 1							235.0	216.0	222.0					12																	85285811		2203	4300	6503	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85285811G>T	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.89C>A	12.37:g.85285811G>T	ENSP00000266682:p.Ala30Asp					SLC6A15_uc010sul.1_Intron|SLC6A15_uc001szy.2_Missense_Mutation_p.A30D	p.A30D	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			2	582	-			30			Cytoplasmic (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.89C>A	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.587974	0.28268	.	.	ENSG00000072041	ENST00000266682;ENST00000450363;ENST00000549540	T;T;T	0.73469	-0.75;-0.43;0.89	5.44	3.6	0.41247	.	0.242929	0.42964	D	0.000637	T	0.61009	0.2313	L	0.44542	1.39	0.23089	N	0.99831	B;B	0.17667	0.001;0.023	B;B	0.24848	0.004;0.056	T	0.42832	-0.9428	10	0.12430	T	0.62	.	5.9164	0.19057	0.2212:0.1379:0.6408:0.0	.	30;30	Q9H9F5;Q9H2J7	.;S6A15_HUMAN	D	30	ENSP00000266682:A30D;ENSP00000390706:A30D;ENSP00000448308:A30D	ENSP00000266682:A30D	A	-	2	0	SLC6A15	83809942	0.460000	0.25776	0.998000	0.56505	0.951000	0.60555	0.672000	0.25187	0.751000	0.32900	0.591000	0.81541	GCT		0.398	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		22	190	1	0	5.26018e-13	0.001882	8.69953e-13	22	190				
LUM	4060	broad.mit.edu	37	12	91497992	91497992	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:91497992G>T	ENST00000266718.4	-	3	1421	c.967C>A	c.(967-969)Ccg>Acg	p.P323T	LUM_ENST00000548071.1_5'UTR	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	323					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)	p.P323T(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TACATATCCGGTGGAAGACTG	0.403																																							uc001tbm.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(967-969)CCG>ACG		lumican precursor							119.0	113.0	115.0					12																	91497992		2203	4300	6503	SO:0001583	missense	4060				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	g.chr12:91497992G>T	BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.967C>A	12.37:g.91497992G>T	ENSP00000266718:p.Pro323Thr					LUM_uc001tbn.2_RNA	p.P323T	NM_002345	NP_002336	P51884	LUM_HUMAN			3	1356	-			323			LRR 11.		B2R6R5|Q96QM7	Missense_Mutation	SNP	ENST00000266718.4	37	c.967C>A	CCDS9038.1	.	.	.	.	.	.	.	.	.	.	G	0.046	-1.267596	0.01433	.	.	ENSG00000139329	ENST00000266718	T	0.36699	1.24	5.19	2.92	0.33932	.	0.487710	0.22763	N	0.055931	T	0.29620	0.0739	L	0.46157	1.445	0.09310	N	1	B	0.16802	0.019	B	0.22601	0.04	T	0.18053	-1.0349	10	0.20046	T	0.44	-8.0803	11.0464	0.47861	0.0832:0.1333:0.7835:0.0	.	323	P51884	LUM_HUMAN	T	323	ENSP00000266718:P323T	ENSP00000266718:P323T	P	-	1	0	LUM	90022123	0.005000	0.15991	0.091000	0.20842	0.119000	0.20118	0.872000	0.28037	1.115000	0.41800	0.591000	0.81541	CCG		0.403	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407150.2	NM_002345		15	53	1	0	0.00400662	0.004007	0.00447152	15	53				
SCYL2	55681	broad.mit.edu	37	12	100732925	100732925	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:100732925A>T	ENST00000360820.2	+	18	3202	c.2765A>T	c.(2764-2766)aAt>aTt	p.N922I		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	922	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)	p.N926I(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCAGCTAGCAATGATTTAAAA	0.368																																							uc001thn.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(2764-2766)AAT>ATT		SCY1-like 2 protein							83.0	81.0	82.0					12																	100732925		2203	4300	6503	SO:0001583	missense	55681				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	g.chr12:100732925A>T	AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.2765A>T	12.37:g.100732925A>T	ENSP00000354061:p.Asn922Ile						p.N922I	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN			18	2815	+			922			Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.		A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	c.2765A>T	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.323881	0.41096	.	.	ENSG00000136021	ENST00000360820	T	0.38077	1.16	5.86	4.72	0.59763	.	0.080390	0.85682	D	0.000000	T	0.43144	0.1234	L	0.34521	1.04	0.52099	D	0.99994	D	0.64830	0.994	P	0.58077	0.832	T	0.38908	-0.9639	10	0.87932	D	0	-20.4702	12.3308	0.55039	0.9339:0.0:0.0661:0.0	.	922	Q6P3W7	SCYL2_HUMAN	I	922	ENSP00000354061:N922I	ENSP00000354061:N922I	N	+	2	0	SCYL2	99257056	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	6.019000	0.70818	1.143000	0.42306	0.528000	0.53228	AAT		0.368	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988		15	100	0	0	0	0.003163	0	15	100				
TXNRD1	7296	broad.mit.edu	37	12	104705135	104705135	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:104705135A>G	ENST00000525566.1	+	5	506	c.482A>G	c.(481-483)tAt>tGt	p.Y161C	TXNRD1_ENST00000503506.2_Missense_Mutation_p.Y11C|TXNRD1_ENST00000429002.2_Missense_Mutation_p.Y161C|TXNRD1_ENST00000526691.1_Missense_Mutation_p.Y63C|TXNRD1_ENST00000526390.1_Missense_Mutation_p.Y55C|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000354940.6_Missense_Mutation_p.Y11C|TXNRD1_ENST00000397736.2_Missense_Mutation_p.Y55C|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000526950.1_Missense_Mutation_p.Y80C|TXNRD1_ENST00000427956.1_Missense_Mutation_p.Y126C|TXNRD1_ENST00000524698.1_Missense_Mutation_p.Y11C|TXNRD1_ENST00000378070.4_Missense_Mutation_p.Y110C|TXNRD1_ENST00000388854.3_Missense_Mutation_p.Y63C|TXNRD1_ENST00000542918.1_Missense_Mutation_p.Y61C	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	161					cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.Y161C(1)|p.Y11C(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	CCCAAGTCCTATGACTATGAC	0.438																																					Ovarian(139;555 1836 9186 9946 10884)	Ovarian(139;555 1836 9186 9946 10884)	uc010swk.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(481-483)TAT>TGT		thioredoxin reductase 1 isoform 3							101.0	91.0	94.0					12																	104705135		1925	4130	6055	SO:0001583	missense	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104705135A>G		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000525566.1:c.482A>G	12.37:g.104705135A>G	ENSP00000434516:p.Tyr161Cys					TXNRD1_uc010swl.1_Missense_Mutation_p.Y11C|TXNRD1_uc010swm.1_Missense_Mutation_p.Y63C|TXNRD1_uc010swn.1_Missense_Mutation_p.Y11C|TXNRD1_uc010swo.1_Missense_Mutation_p.Y11C|TXNRD1_uc010swp.1_Intron|TXNRD1_uc010swq.1_Missense_Mutation_p.Y61C|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.Y77C|TXNRD1_uc001tko.1_RNA|TXNRD1_uc001tkp.1_RNA|TXNRD1_uc001tkv.1_RNA	p.Y161C	NM_001093771	NP_001087240	Q16881	TRXR1_HUMAN			5	504	+			161					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	ENST00000525566.1	37	c.482A>G	CCDS53820.1	.	.	.	.	.	.	.	.	.	.	A	19.64	3.865429	0.71949	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000526266;ENST00000503506;ENST00000526691;ENST00000531691;ENST00000388854;ENST00000354940;ENST00000526390;ENST00000531689;ENST00000528079;ENST00000526580;ENST00000529784;ENST00000524698;ENST00000542918;ENST00000378070;ENST00000527335;ENST00000397736;ENST00000427956;ENST00000526950	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78595	-0.24;-0.24;-1.18;-0.24;-0.24;-1.19;-0.24;-0.24;-0.24;-1.17;-1.15;-0.04;-0.24;-0.24;-0.24;-0.12;-0.24;-0.24;-0.24	5.75	4.54	0.55810	.	0.053252	0.85682	D	0.000000	T	0.81044	0.4741	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.992;1.0;0.998;0.997;0.997;0.996	D;P;D;D;D;D;P	0.75484	0.922;0.797;0.946;0.986;0.949;0.916;0.853	T	0.82778	-0.0289	10	0.87932	D	0	-17.9463	11.8279	0.52278	0.8688:0.0:0.0:0.1311	.	61;55;161;63;11;161;126	B7Z2S5;E2QRB9;B7Z904;Q16881-4;B2R5P6;Q16881;E7EW10	.;.;.;.;.;TRXR1_HUMAN;.	C	161;161;11;11;63;55;63;11;55;11;80;11;11;11;61;110;11;55;126;80	ENSP00000434516:Y161C;ENSP00000412045:Y161C;ENSP00000431294:Y11C;ENSP00000421934:Y11C;ENSP00000435929:Y63C;ENSP00000431925:Y55C;ENSP00000373506:Y63C;ENSP00000347020:Y11C;ENSP00000435123:Y55C;ENSP00000433507:Y11C;ENSP00000433887:Y11C;ENSP00000436229:Y11C;ENSP00000433425:Y11C;ENSP00000440978:Y61C;ENSP00000367310:Y110C;ENSP00000433599:Y11C;ENSP00000380844:Y55C;ENSP00000393328:Y126C;ENSP00000432812:Y80C	ENSP00000347020:Y11C	Y	+	2	0	TXNRD1	103229265	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	6.641000	0.74324	2.201000	0.70794	0.529000	0.55759	TAT		0.438	TXNRD1-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389960.1	NM_003330		5	11	0	0	0	0.000602	0	5	11				
ALDH1L2	160428	broad.mit.edu	37	12	105428127	105428127	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:105428127C>G	ENST00000258494.9	-	19	2335	c.2195G>C	c.(2194-2196)gGg>gCg	p.G732A	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	732	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.G732A(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GAACAACCGCCCAGCAGCAAT	0.418																																							uc001tlc.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2194-2196)GGG>GCG		aldehyde dehydrogenase 1 family, member L2							108.0	90.0	96.0					12																	105428127		2203	4300	6503	SO:0001583	missense	160428				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	g.chr12:105428127C>G	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2195G>C	12.37:g.105428127C>G	ENSP00000258494:p.Gly732Ala					ALDH1L2_uc009zuo.2_Missense_Mutation_p.G187A|ALDH1L2_uc009zup.2_RNA	p.G732A	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN			19	2322	-			732			Aldehyde dehydrogenase.		Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	37	c.2195G>C	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195533	0.94960	.	.	ENSG00000136010	ENST00000258494	T	0.16324	2.35	5.46	5.46	0.80206	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.25754	0.0627	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.36212	-0.9757	10	0.72032	D	0.01	.	19.6821	0.95969	0.0:1.0:0.0:0.0	.	732	Q3SY69	AL1L2_HUMAN	A	732	ENSP00000258494:G732A	ENSP00000258494:G732A	G	-	2	0	ALDH1L2	103952257	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.598000	0.82745	2.719000	0.93026	0.555000	0.69702	GGG		0.418	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294		5	20	0	0	0	0.001984	0	5	20				
CCDC63	160762	broad.mit.edu	37	12	111318979	111318979	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:111318979G>A	ENST00000308208.5	+	7	974	c.732G>A	c.(730-732)caG>caA	p.Q244Q	CCDC63_ENST00000545036.1_Silent_p.Q204Q|CCDC63_ENST00000552694.1_Silent_p.Q165Q|CCDC63_ENST00000550317.1_3'UTR	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	244								p.Q244Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						ACACCTCTCAGTACAACCTGG	0.557																																							uc001trv.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(6)|ovary(1)|pancreas(1)	8						c.(730-732)CAG>CAA		coiled-coil domain containing 63							86.0	72.0	77.0					12																	111318979		2203	4300	6503	SO:0001819	synonymous_variant	160762							g.chr12:111318979G>A	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.732G>A	12.37:g.111318979G>A						CCDC63_uc009zvt.1_Missense_Mutation_p.V99I|CCDC63_uc010sye.1_Silent_p.Q204Q|CCDC63_uc001trw.1_Silent_p.Q159Q	p.Q244Q	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN			7	927	+			244			Potential.		B4DY03|Q0P603|Q6P2E1	Silent	SNP	ENST00000308208.5	37	c.732G>A	CCDS9151.1																																																																																				0.557	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591		10	25	0	0	0	0.006214	0	10	25				
TBX5	6910	broad.mit.edu	37	12	114803991	114803991	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:114803991A>C	ENST00000310346.4	-	8	1627	c.961T>G	c.(961-963)Tac>Gac	p.Y321D	TBX5_ENST00000526441.1_Missense_Mutation_p.Y321D|TBX5_ENST00000349716.5_Missense_Mutation_p.Y271D|TBX5_ENST00000405440.2_Missense_Mutation_p.Y321D	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	321					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Y321D(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTACAATGGTAAATTTGGCTA	0.542																																					NSCLC(152;1358 1980 4050 23898 40356)	NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)|pancreas(1)|skin(1)	8						c.(961-963)TAC>GAC		T-box 5 isoform 1							110.0	104.0	106.0					12																	114803991		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114803991A>C	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.961T>G	12.37:g.114803991A>C	ENSP00000309913:p.Tyr321Asp					TBX5_uc001tvp.2_Missense_Mutation_p.Y321D|TBX5_uc001tvq.2_Missense_Mutation_p.Y271D|TBX5_uc010syv.1_Missense_Mutation_p.Y321D	p.Y321D	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	8	1456	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		321					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.961T>G	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.387689	0.82902	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.91577	-2.39;-2.44;-2.44;-2.87	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.95079	0.8406	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.942	D	0.95003	0.8145	10	0.49607	T	0.09	.	15.8173	0.78612	1.0:0.0:0.0:0.0	.	321;321	Q99593-2;Q99593	.;TBX5_HUMAN	D	271;321;218;321;321	ENSP00000337723:Y271D;ENSP00000309913:Y321D;ENSP00000384152:Y321D;ENSP00000433292:Y321D	ENSP00000309913:Y321D	Y	-	1	0	TBX5	113288374	1.000000	0.71417	0.971000	0.41717	0.982000	0.71751	8.962000	0.93254	2.151000	0.67156	0.533000	0.62120	TAC		0.542	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		13	34	0	0	0	0.00245	0	13	34				
TAOK3	51347	broad.mit.edu	37	12	118671547	118671547	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:118671547G>C	ENST00000392533.3	-	9	1065	c.575C>G	c.(574-576)gCt>gGt	p.A192G	TAOK3_ENST00000419821.2_Missense_Mutation_p.A192G	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	192	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.A192G(1)		central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCATCCATAGCTAAGATCAC	0.353																																							uc001twx.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|central_nervous_system(1)	6						c.(574-576)GCT>GGT		TAO kinase 3							136.0	119.0	125.0					12																	118671547		2203	4299	6502	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118671547G>C	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.575C>G	12.37:g.118671547G>C	ENSP00000376317:p.Ala192Gly					TAOK3_uc001tww.2_Missense_Mutation_p.A22G|TAOK3_uc001twy.3_Missense_Mutation_p.A192G	p.A192G	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN			9	870	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		192			Protein kinase.		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.575C>G	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103024	0.94245	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000538601	T;T;T	0.73575	-0.33;-0.33;-0.76	5.14	5.14	0.70334	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.119123	0.56097	D	0.000027	T	0.76335	0.3973	N	0.11927	0.2	0.80722	D	1	D	0.63046	0.992	D	0.71184	0.972	T	0.81033	-0.1116	10	0.87932	D	0	.	18.749	0.91806	0.0:0.0:1.0:0.0	.	192	Q9H2K8	TAOK3_HUMAN	G	192;192;90	ENSP00000416374:A192G;ENSP00000376317:A192G;ENSP00000437389:A90G	ENSP00000376317:A192G	A	-	2	0	TAOK3	117155930	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.460000	0.97641	2.832000	0.97577	0.655000	0.94253	GCT		0.353	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		12	109	0	0	0	0.001855	0	12	109				
NCOR2	9612	broad.mit.edu	37	12	124817745	124817745	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:124817745G>A	ENST00000405201.1	-	42	6686	c.6686C>T	c.(6685-6687)aCg>aTg	p.T2229M	NCOR2_ENST00000404121.2_Missense_Mutation_p.T1790M|NCOR2_ENST00000429285.2_Missense_Mutation_p.T2219M|NCOR2_ENST00000404621.1_Missense_Mutation_p.T2219M|NCOR2_ENST00000397355.1_Missense_Mutation_p.T2220M|NCOR2_ENST00000356219.3_Missense_Mutation_p.T2236M			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2240					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.T2229M(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCCTGGCTCCGTCATGCCCTC	0.642																																							uc010tay.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(6715-6717)ACG>ATG		nuclear receptor co-repressor 2 isoform 1							53.0	61.0	58.0					12																	124817745		2085	4204	6289	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124817745G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.6686C>T	12.37:g.124817745G>A	ENSP00000384018:p.Thr2229Met					NCOR2_uc010taz.1_Missense_Mutation_p.T2223M|NCOR2_uc010tax.1_Missense_Mutation_p.T350M	p.T2239M	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	44	6872	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2240					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.6716C>T	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.849|8.849	0.944230|0.944230	0.18356|0.18356	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000443451;ENST00000440337|ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285	.|T;T;T;T;T;T	.|0.18016	.|2.24;2.51;2.24;2.51;2.24;2.51	4.8|4.8	1.85|1.85	0.25348|0.25348	.|.	.|0.455034	.|0.23706	.|N	.|0.045362	T|T	0.20740|0.20740	0.0499|0.0499	L|L	0.36672|0.36672	1.1|1.1	0.09310|0.09310	N|N	1|1	.|D;D;P	.|0.71674	.|0.997;0.998;0.857	.|P;P;B	.|0.56865	.|0.497;0.808;0.125	T|T	0.03922|0.03922	-1.0992|-1.0992	5|10	.|0.62326	.|D	.|0.03	-0.0391|-0.0391	6.3011|6.3011	0.21113|0.21113	0.2122:0.387:0.4008:0.0|0.2122:0.387:0.4008:0.0	.|.	.|2220;2229;2240	.|C9J239;C9JFD3;Q9Y618	.|.;.;NCOR2_HUMAN	W|M	102;20|2229;2219;2236;2220;2228;1790;321;2219	.|ENSP00000384018:T2229M;ENSP00000384202:T2219M;ENSP00000348551:T2236M;ENSP00000380513:T2220M;ENSP00000385618:T1790M;ENSP00000400281:T2219M	.|ENSP00000348551:T2236M	R|T	-|-	1|2	2|0	NCOR2|NCOR2	123383698|123383698	0.989000|0.989000	0.36119|0.36119	0.002000|0.002000	0.10522|0.10522	0.045000|0.045000	0.14185|0.14185	2.412000|2.412000	0.44609|0.44609	0.446000|0.446000	0.26666|0.26666	0.650000|0.650000	0.86243|0.86243	CGG|ACG		0.642	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		8	24	0	0	0	0.00308	0	8	24				
RIMBP2	23504	broad.mit.edu	37	12	130963548	130963548	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:130963548G>T	ENST00000261655.4	-	3	174	c.11C>A	c.(10-12)gCg>gAg	p.A4E	RIMBP2_ENST00000535703.1_5'UTR|RIMBP2_ENST00000536002.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	4					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.A4E(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCGTTCAGCCGCCTCTCGCAT	0.617																																							uc001uil.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(10-12)GCG>GAG		RIM-binding protein 2							35.0	36.0	35.0					12																	130963548		2201	4299	6500	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130963548G>T	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.11C>A	12.37:g.130963548G>T	ENSP00000261655:p.Ala4Glu					RIMBP2_uc001uim.2_5'UTR	p.A4E	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	3	175	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	4					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.11C>A	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516615	0.85495	.	.	ENSG00000060709	ENST00000261655	T	0.24723	1.84	4.25	4.25	0.50352	.	0.000000	0.64402	D	0.000001	T	0.52208	0.1720	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.59484	-0.7446	10	0.66056	D	0.02	-17.5375	15.3895	0.74731	0.0:0.0:1.0:0.0	.	4	O15034	RIMB2_HUMAN	E	4	ENSP00000261655:A4E	ENSP00000261655:A4E	A	-	2	0	RIMBP2	129529501	1.000000	0.71417	0.975000	0.42487	0.964000	0.63967	8.441000	0.90313	1.909000	0.55274	0.491000	0.48974	GCG		0.617	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		9	25	1	0	3.86212e-05	0.008291	4.90993e-05	9	25				
RNF17	56163	broad.mit.edu	37	13	25341431	25341431	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:25341431G>A	ENST00000255324.5	+	2	204	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000381921.1_Missense_Mutation_p.C51Y|RNF17_ENST00000255325.6_Missense_Mutation_p.C51Y	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	51					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.C51Y(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAACTTCAATGTGGACATGCT	0.348																																							uc001upr.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(151-153)TGT>TAT		ring finger protein 17							203.0	178.0	187.0					13																	25341431		2203	4300	6503	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25341431G>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.152G>A	13.37:g.25341431G>A	ENSP00000255324:p.Cys51Tyr					RNF17_uc010tdd.1_Translation_Start_Site|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.C51Y|RNF17_uc001ups.2_Translation_Start_Site|RNF17_uc001upq.1_Missense_Mutation_p.C51Y	p.C51Y	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	2	193	+		Lung SC(185;0.0225)|Breast(139;0.077)	51			RING-type.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.152G>A	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620047	0.46736	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000255325;ENST00000255326	D;D;D	0.99680	-6.38;-6.38;-6.38	4.78	4.78	0.61160	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);	0.000000	0.53938	D	0.000047	D	0.99312	0.9759	L	0.32530	0.975	0.37145	D	0.901889	D;D;D	0.89917	0.998;0.998;1.0	D;D;D	0.91635	0.991;0.991;0.999	D	0.98903	1.0777	10	0.56958	D	0.05	.	13.1746	0.59619	0.0:0.0:1.0:0.0	.	51;51;51	B7Z7S1;Q9BXT8;Q9BXT8-2	.;RNF17_HUMAN;.	Y	51	ENSP00000255324:C51Y;ENSP00000371346:C51Y;ENSP00000255325:C51Y	ENSP00000255324:C51Y	C	+	2	0	RNF17	24239431	1.000000	0.71417	0.998000	0.56505	0.554000	0.35429	3.083000	0.50136	2.446000	0.82766	0.585000	0.79938	TGT		0.348	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		8	91	0	0	0	0.00308	0	8	91				
FLT3	2322	broad.mit.edu	37	13	28626770	28626770	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:28626770T>C	ENST00000241453.7	-	5	607	c.526A>G	c.(526-528)Atg>Gtg	p.M176V	FLT3_ENST00000537084.1_Missense_Mutation_p.M176V|FLT3_ENST00000380982.4_Missense_Mutation_p.M176V	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	176					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.M176V(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGTTTTCCATTTTTCTAAAG	0.408			"""Mis, O"""		"""AML, ALL"""																																		uc001urw.2		NA		Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(526-528)ATG>GTG		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						109.0	107.0	108.0					13																	28626770		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28626770T>C	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.526A>G	13.37:g.28626770T>C	ENSP00000241453:p.Met176Val					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.M176V	p.M176V	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	5	608	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	176			Extracellular (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.526A>G	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	T	7.171	0.587607	0.13812	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.76578	-0.97;-1.03;-0.76	5.73	-11.5	0.00074	.	0.552281	0.20060	N	0.100115	T	0.50990	0.1648	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.49093	-0.8975	10	0.09084	T	0.74	.	11.1778	0.48610	0.3341:0.0:0.5089:0.157	.	176;176	P36888-2;P36888	.;FLT3_HUMAN	V	176	ENSP00000241453:M176V;ENSP00000370369:M176V;ENSP00000438139:M176V	ENSP00000241453:M176V	M	-	1	0	FLT3	27524770	0.049000	0.20398	0.023000	0.16930	0.579000	0.36224	-0.243000	0.08915	-1.524000	0.01764	-0.341000	0.08007	ATG		0.408	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			12	58	0	0	0	0.00245	0	12	58				
MTUS2	23281	broad.mit.edu	37	13	29599371	29599371	+	Missense_Mutation	SNP	G	G	A	rs533342793		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:29599371G>A	ENST00000431530.3	+	1	624	c.566G>A	c.(565-567)aGa>aAa	p.R189K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	179						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.R189K(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCTTTGGAAAGAGCAAGCAGC	0.547																																							uc001usl.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(565-567)AGA>AAA		hypothetical protein LOC23281 isoform a							60.0	65.0	63.0					13																	29599371		2068	4207	6275	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599371G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.566G>A	13.37:g.29599371G>A	ENSP00000392057:p.Arg189Lys						p.R189K	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			1	624	+			179					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.566G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	13.15	2.150240	0.37923	.	.	ENSG00000132938	ENST00000431530	T	0.19806	2.12	4.63	3.78	0.43462	.	0.414143	0.20179	N	0.097574	T	0.19046	0.0457	M	0.62723	1.935	0.20489	N	0.999899	P	0.36199	0.543	B	0.31245	0.126	T	0.12344	-1.0551	9	.	.	.	.	8.1274	0.31008	0.1839:0.0:0.8161:0.0	.	179	Q5JR59	MTUS2_HUMAN	K	189	ENSP00000392057:R189K	.	R	+	2	0	MTUS2	28497371	0.224000	0.23674	0.001000	0.08648	0.020000	0.10135	2.237000	0.43061	0.936000	0.37367	0.561000	0.74099	AGA		0.547	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		6	55	0	0	0	0.001168	0	6	55				
STARD13	90627	broad.mit.edu	37	13	33739517	33739517	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:33739517C>T	ENST00000336934.5	-	3	396	c.280G>A	c.(280-282)Gat>Aat	p.D94N	STARD13_ENST00000399365.3_5'UTR|STARD13_ENST00000255486.4_Missense_Mutation_p.D86N|STARD13-IT1_ENST00000456087.1_RNA|STARD13_ENST00000487412.1_5'UTR	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	94	SAM.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.D94N(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		AAATCATGATCATTCTTGACA	0.368																																							uc001uuw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(280-282)GAT>AAT		StAR-related lipid transfer (START) domain							111.0	107.0	109.0					13																	33739517		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33739517C>T	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.280G>A	13.37:g.33739517C>T	ENSP00000338785:p.Asp94Asn					STARD13_uc001uuu.2_Missense_Mutation_p.D86N|STARD13_uc001uuv.2_5'UTR|STARD13_uc001uux.2_Missense_Mutation_p.D59N|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.D79N	p.D94N	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	3	406	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	94			SAM.		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.280G>A	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228992	0.95173	.	.	ENSG00000133121	ENST00000255486;ENST00000336934;ENST00000399364	D;D	0.84660	-1.88;-1.88	5.37	5.37	0.77165	Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.92870	0.7732	M	0.82923	2.615	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.87578	0.983;0.994;0.998;0.987	D	0.93050	0.6465	10	0.52906	T	0.07	.	17.8773	0.88829	0.0:1.0:0.0:0.0	.	86;59;94;86	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	N	86;94;86	ENSP00000255486:D86N;ENSP00000338785:D94N	ENSP00000255486:D86N	D	-	1	0	STARD13	32637517	1.000000	0.71417	0.979000	0.43373	0.984000	0.73092	6.771000	0.74996	2.539000	0.85634	0.655000	0.94253	GAT		0.368	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		8	56	0	0	0	0.004482	0	8	56				
SUPT20H	55578	broad.mit.edu	37	13	37593535	37593535	+	Splice_Site	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:37593535C>A	ENST00000350612.6	-	22	2037		c.e22-1		SUPT20H_ENST00000475892.1_Splice_Site|SUPT20H_ENST00000356185.3_Splice_Site|SUPT20H_ENST00000464744.1_Splice_Site|SUPT20H_ENST00000360252.4_Splice_Site	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)						autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)	p.?(1)									AATGGAACACCTGTTAAATAA	0.254																																							uc001uwg.2		NA																	1	Unknown(1)		lung(1)		0						c.e22-1		family with sequence similarity 48, member A							72.0	82.0	79.0					13																	37593535		2200	4293	6493	SO:0001630	splice_region_variant	55578				autophagy|gastrulation	SAGA-type complex	protein binding	g.chr13:37593535C>A	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1817-1G>T	13.37:g.37593535C>A						FAM48A_uc010abt.2_Splice_Site_p.G607_splice|FAM48A_uc001uwh.2_Splice_Site_p.G607_splice|FAM48A_uc001uwi.2_Splice_Site_p.G606_splice|FAM48A_uc001uwj.2_Splice_Site_p.G607_splice|FAM48A_uc001uwk.2_Splice_Site_p.G685_splice|FAM48A_uc001uwd.2_Splice_Site_p.G93_splice|FAM48A_uc001uwe.2_Splice_Site_p.G90_splice|FAM48A_uc001uwf.2_Splice_Site_p.G184_splice	p.G606_splice	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	22	2065	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)						E7ER46|Q71RF3|Q9Y6A6	Splice_Site	SNP	ENST00000350612.6	37	c.1817_splice	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432529	0.62844	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000469488;ENST00000536874;ENST00000464744	.	.	.	5.34	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8989	0.52671	0.1374:0.7304:0.1322:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM48A	36491535	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.552000	0.60747	1.272000	0.44329	0.585000	0.79938	.		0.254	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569	Intron	15	89	1	0	0.00400662	0.004007	0.00447152	15	89				
NHLRC3	387921	broad.mit.edu	37	13	39616394	39616394	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:39616394G>A	ENST00000379600.3	+	4	860	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	NHLRC3_ENST00000470258.1_5'UTR|NHLRC3_ENST00000379599.2_Intron	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	180						extracellular vesicular exosome (GO:0070062)		p.V180M(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		TATTTACATTGTGGATGGAGA	0.333																																							uc001uxc.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(538-540)GTG>ATG		NHL repeat containing 3 isoform a							122.0	120.0	120.0					13																	39616394		2203	4300	6503	SO:0001583	missense	387921					extracellular region		g.chr13:39616394G>A		CCDS31961.1, CCDS31962.1	13q13.3	2007-12-18			ENSG00000188811	ENSG00000188811			33751	protein-coding gene	gene with protein product							Standard	NM_001017370		Approved		uc001uxc.4	Q5JS37	OTTHUMG00000016765	ENST00000379600.3:c.538G>A	13.37:g.39616394G>A	ENSP00000368920:p.Val180Met					NHLRC3_uc001uxb.1_Missense_Mutation_p.V180M|NHLRC3_uc001uxd.2_Intron|NHLRC3_uc001uxe.2_Translation_Start_Site	p.V180M	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)	4	860	+		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	180			NHL 2.		B2RTZ2|B4DTL0|Q69YI9	Missense_Mutation	SNP	ENST00000379600.3	37	c.538G>A	CCDS31961.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742647	0.89573	.	.	ENSG00000188811	ENST00000379600	D	0.90732	-2.72	5.42	5.42	0.78866	Six-bladed beta-propeller, TolB-like (1);	0.061392	0.64402	D	0.000005	D	0.95306	0.8477	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.71184	0.972;0.879	D	0.95038	0.8175	9	.	.	.	-7.5106	18.2078	0.89860	0.0:0.0:1.0:0.0	.	180;180	Q5JS37;B4DRC8	NHLC3_HUMAN;.	M	180	ENSP00000368920:V180M	.	V	+	1	0	NHLRC3	38514394	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.829000	0.99411	2.521000	0.84997	0.563000	0.77884	GTG		0.333	NHLRC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044616.2	NM_001012754		14	83	0	0	0	0.004007	0	14	83				
FNDC3A	22862	broad.mit.edu	37	13	49771970	49771970	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:49771970A>T	ENST00000492622.2	+	21	2755	c.2450A>T	c.(2449-2451)aAa>aTa	p.K817I	FNDC3A_ENST00000398316.3_Missense_Mutation_p.K761I|FNDC3A_ENST00000541916.1_Missense_Mutation_p.K817I	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	817	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)	p.K817I(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TATGAAATAAAAGGACTTTCA	0.408																																							uc001vcm.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(2449-2451)AAA>ATA		fibronectin type III domain containing 3A							130.0	127.0	128.0					13																	49771970		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49771970A>T	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2450A>T	13.37:g.49771970A>T	ENSP00000417257:p.Lys817Ile					FNDC3A_uc001vcn.2_Missense_Mutation_p.K817I|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Missense_Mutation_p.K761I	p.K817I	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	21	2755	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	817			Fibronectin type-III 6.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.2450A>T	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	A	18.37	3.608339	0.66558	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.58652	0.32;0.32;0.32	5.76	5.76	0.90799	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.070930	0.56097	D	0.000022	T	0.80639	0.4661	M	0.92459	3.31	0.58432	D	0.999998	D;D	0.62365	0.991;0.989	D;P	0.66847	0.947;0.828	D	0.84592	0.0667	10	0.52906	T	0.07	-24.835	15.2534	0.73564	1.0:0.0:0.0:0.0	.	761;817	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	I	817;753;817;761	ENSP00000417257:K817I;ENSP00000441831:K817I;ENSP00000381362:K761I	ENSP00000338579:K753I	K	+	2	0	FNDC3A	48669971	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.750000	0.68712	2.199000	0.70637	0.528000	0.53228	AAA		0.408	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		17	47	0	0	0	0.00499	0	17	47				
TDRD3	81550	broad.mit.edu	37	13	61059946	61059946	+	Missense_Mutation	SNP	A	A	G	rs17855091		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:61059946A>G	ENST00000196169.3	+	7	1090	c.302A>G	c.(301-303)cAt>cGt	p.H101R	TDRD3_ENST00000377894.2_Missense_Mutation_p.H101R|TDRD3_ENST00000377881.2_Missense_Mutation_p.H101R|TDRD3_ENST00000535286.1_Missense_Mutation_p.H194R	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	101				H -> R (in Ref. 6; AAH60876). {ECO:0000305}.	chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.H101R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TGTGTATCTCATGTCCAAGTG	0.323																																					Colon(36;164 906 35820 50723)	Colon(36;164 906 35820 50723)	uc001via.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(301-303)CAT>CGT		tudor domain containing 3 isoform 2							87.0	79.0	82.0					13																	61059946		2201	4300	6501	SO:0001583	missense	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61059946A>G	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.302A>G	13.37:g.61059946A>G	ENSP00000196169:p.His101Arg					TDRD3_uc010aef.2_5'UTR|TDRD3_uc001vhz.3_Missense_Mutation_p.H101R|TDRD3_uc010aeg.2_Missense_Mutation_p.H194R|TDRD3_uc001vib.3_Missense_Mutation_p.H100R	p.H101R	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	7	1090	+		Prostate(109;0.173)|Breast(118;0.174)	101	H -> R (in Ref. 6; AAH60876).				B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	c.302A>G	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	A	6.199	0.404924	0.11754	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286;ENST00000377882	D;D;D;D	0.93307	-3.19;-3.19;-3.19;-3.2	5.33	4.13	0.48395	.	0.533273	0.22036	N	0.065533	D	0.86372	0.5917	L	0.29908	0.895	0.21897	N	0.999489	B;B;B	0.27416	0.127;0.178;0.078	B;B;B	0.27076	0.076;0.034;0.021	T	0.72124	-0.4385	10	0.15952	T	0.53	-1.1446	7.8495	0.29446	0.7201:0.1431:0.0:0.1368	rs17855091	194;100;101	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	R	101;101;101;194;101	ENSP00000196169:H101R;ENSP00000367113:H101R;ENSP00000367126:H101R;ENSP00000440190:H194R	ENSP00000196169:H101R	H	+	2	0	TDRD3	59957947	0.998000	0.40836	0.997000	0.53966	0.997000	0.91878	3.899000	0.56288	0.829000	0.34733	0.533000	0.62120	CAT		0.323	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		8	23	0	0	0	0.006214	0	8	23				
KLHL1	57626	broad.mit.edu	37	13	70370930	70370930	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:70370930T>A	ENST00000377844.4	-	7	2338	c.1579A>T	c.(1579-1581)Aat>Tat	p.N527Y	KLHL1_ENST00000545028.1_Missense_Mutation_p.N334Y	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	527					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)	p.N527Y(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTTTTGGGATTGTAACATTCA	0.388																																							uc001vip.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1579-1581)AAT>TAT		kelch-like 1 protein							188.0	162.0	171.0					13																	70370930		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70370930T>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1579A>T	13.37:g.70370930T>A	ENSP00000367075:p.Asn527Tyr					KLHL1_uc010thm.1_Missense_Mutation_p.N466Y	p.N527Y	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	7	2373	-		Breast(118;0.000162)	527			Kelch 2.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1579A>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388077	0.82902	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.80123	-1.34;-1.34	5.45	5.45	0.79879	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000005	D	0.89188	0.6644	M	0.74467	2.265	0.51482	D	0.999924	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.99	D	0.90501	0.4474	10	0.87932	D	0	.	15.8164	0.78604	0.0:0.0:0.0:1.0	.	527;527	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	Y	527;334	ENSP00000367075:N527Y;ENSP00000439602:N334Y	ENSP00000367075:N527Y	N	-	1	0	KLHL1	69268931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.202000	0.72131	2.195000	0.70347	0.533000	0.62120	AAT		0.388	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		10	66	0	0	0	0.006214	0	10	66				
SLITRK5	26050	broad.mit.edu	37	13	88327942	88327943	+	Missense_Mutation	DNP	AG	AG	TA			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:88327942_88327943AG>TA	ENST00000325089.6	+	2	518_519	c.299_300AG>TA	c.(298-300)gAG>gTA	p.E100V	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	100					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.E100V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TATCCCAATGAGTTTGTCAATT	0.485																																							uc001vln.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(298-300)GAG>GTA		SLIT and NTRK-like family, member 5 precursor																																				SO:0001583	missense	26050					integral to membrane		g.chr13:88327942_88327943AG>TA	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	Exception_encountered	13.37:g.88327942_88327943delinsTA	ENSP00000366283:p.Glu100Val					SLITRK5_uc010tic.1_Intron	p.E100V	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	518_519	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		100			LRR 1.|Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	DNP	ENST00000325089.6	37	c.299_300AG>TA	CCDS9465.1																																																																																				0.485	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			29	159	0	0	0	0.004672	0	29	159				
MCF2L	23263	broad.mit.edu	37	13	113718714	113718714	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr13:113718714C>T	ENST00000375608.3	+	7	734	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	MCF2L_ENST00000434480.2_Missense_Mutation_p.R202W|MCF2L_ENST00000375601.3_Missense_Mutation_p.R200W|MCF2L_ENST00000421756.1_Missense_Mutation_p.R200W|MCF2L_ENST00000375597.4_Missense_Mutation_p.R194W|MCF2L_ENST00000442652.2_Missense_Mutation_p.R226W|MCF2L_ENST00000423482.2_Missense_Mutation_p.R194W|MCF2L_ENST00000375604.2_Missense_Mutation_p.R253W|MCF2L_ENST00000397030.1_Missense_Mutation_p.R229W|MCF2L_ENST00000535094.2_Missense_Mutation_p.R196W			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	226					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R253W(1)|p.R200W(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CTGCCACTCCCGGTGGCTGTG	0.607																																							uc001vsu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)	2						c.(757-759)CGG>TGG		MCF.2 cell line derived transforming							62.0	53.0	56.0					13																	113718714		2202	4300	6502	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113718714C>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.676C>T	13.37:g.113718714C>T	ENSP00000364758:p.Arg226Trp					MCF2L_uc001vsq.2_Missense_Mutation_p.R253W|MCF2L_uc010tjr.1_Missense_Mutation_p.R196W|MCF2L_uc001vsr.2_Missense_Mutation_p.R200W|MCF2L_uc001vss.3_Missense_Mutation_p.R194W|MCF2L_uc010tjs.1_Missense_Mutation_p.R194W|MCF2L_uc001vst.1_Missense_Mutation_p.R158W	p.R253W	NM_001112732	NP_001106203	O15068	MCF2L_HUMAN			6	779	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	226					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.757C>T		.	.	.	.	.	.	.	.	.	.	C	22.0	4.228726	0.79576	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000430480;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000423251;ENST00000440749	T;T;T;T;T;T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57;2.57	5.02	1.21	0.21127	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.229473	0.46758	D	0.000278	T	0.28797	0.0714	L	0.60455	1.87	0.32127	N	0.587269	D;D;D;D;D;D	0.71674	0.997;0.997;0.998;0.998;0.994;0.997	D;D;D;P;P;P	0.63957	0.92;0.92;0.92;0.757;0.875;0.834	T	0.35101	-0.9802	10	0.87932	D	0	.	13.4205	0.60994	0.7955:0.2045:0.0:0.0	.	194;196;253;158;194;226	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	W	226;226;253;229;196;196;200;200;202;194;194;116;37	ENSP00000364758:R226W;ENSP00000401422:R226W;ENSP00000364754:R253W;ENSP00000380225:R229W;ENSP00000440374:R196W;ENSP00000397285:R200W;ENSP00000364751:R200W;ENSP00000407722:R202W;ENSP00000405639:R194W;ENSP00000364747:R194W;ENSP00000405996:R116W	ENSP00000364747:R194W	R	+	1	2	MCF2L	112766715	1.000000	0.71417	0.990000	0.47175	0.799000	0.45148	2.301000	0.43628	-0.025000	0.13918	0.555000	0.69702	CGG		0.607	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4			4	32	0	0	0	0.009096	0	4	32				
POTEG	404785	broad.mit.edu	37	14	19553587	19553587	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:19553587C>A	ENST00000409832.3	+	1	223	c.171C>A	c.(169-171)ctC>ctA	p.L57L		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	57								p.L57L(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGAAGACACTCAGGAGCAAGA	0.617																																							uc001vuz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(169-171)CTC>CTA		POTE ankyrin domain family, member G							113.0	157.0	142.0					14																	19553587		2198	4286	6484	SO:0001819	synonymous_variant	404785							g.chr14:19553587C>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.171C>A	14.37:g.19553587C>A						POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.L57L	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	223	+			57					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Silent	SNP	ENST00000409832.3	37	c.171C>A	CCDS32018.1																																																																																				0.617	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		16	343	1	0	3.01185e-09	0.003954	4.49319e-09	16	343				
POTEM	641455	broad.mit.edu	37	14	20020050	20020050	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:20020050G>T	ENST00000551509.1	-	1	222	c.171C>A	c.(169-171)ctC>ctA	p.L57L		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	57								p.L57L(2)		endometrium(4)|kidney(1)|lung(4)	9						TCTTGCTCCTGAGTGTCTTCA	0.617																																							uc001vwc.3		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(169-171)CTC>CTA		prostate-specific P704P							10.0	15.0	14.0					14																	20020050		300	1017	1317	SO:0001819	synonymous_variant	641455							g.chr14:20020050G>T		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.171C>A	14.37:g.20020050G>T						P704P_uc001vwb.3_RNA	p.L57L	NM_001145442	NP_001138914	A6NI47	POTEM_HUMAN			1	223	-			57						Silent	SNP	ENST00000551509.1	37	c.171C>A	CCDS45076.1																																																																																				0.617	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		14	178	1	0	0.000308642	0.003163	0.000369864	14	178				
OR4N2	390429	broad.mit.edu	37	14	20295661	20295661	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:20295661C>A	ENST00000315947.1	+	1	54	c.54C>A	c.(52-54)acC>acA	p.T18T	OR4N2_ENST00000568211.1_Silent_p.T18T	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T18T(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGTCTGACCCAGTCTCAAG	0.383																																							uc010tkv.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(52-54)ACC>ACA		olfactory receptor, family 4, subfamily N,							153.0	169.0	163.0					14																	20295661		2203	4300	6503	SO:0001819	synonymous_variant	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20295661C>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.54C>A	14.37:g.20295661C>A							p.T18T	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	54	+	all_cancers(95;0.00108)		18			Extracellular (Potential).		Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	37	c.54C>A	CCDS32022.1																																																																																				0.383	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2			16	178	1	0	2.48551e-13	0.00499	4.16721e-13	16	178				
OR4K14	122740	broad.mit.edu	37	14	20482705	20482705	+	Silent	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:20482705C>G	ENST00000305045.2	-	1	647	c.648G>C	c.(646-648)ctG>ctC	p.L216L		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L216L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGTAGGAGATCAGGAGGAGCA	0.502																																							uc010tky.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(646-648)CTG>CTC		olfactory receptor, family 4, subfamily K,							93.0	80.0	84.0					14																	20482705		2203	4300	6503	SO:0001819	synonymous_variant	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20482705C>G		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.648G>C	14.37:g.20482705C>G							p.L216L	NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	648	-	all_cancers(95;0.00108)		216			Helical; Name=5; (Potential).		Q6IEU1|Q96R71	Silent	SNP	ENST00000305045.2	37	c.648G>C	CCDS32027.1																																																																																				0.502	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			3	11	0	0	0	0.004672	0	3	11				
OR4K17	390436	broad.mit.edu	37	14	20586056	20586056	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:20586056T>A	ENST00000315543.4	+	1	491	c.491T>A	c.(490-492)aTg>aAg	p.M164K		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M164K(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTACACTACATGACCATCATG	0.448																																							uc001vwo.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(490-492)ATG>AAG		olfactory receptor, family 4, subfamily K,							205.0	172.0	183.0					14																	20586056		2203	4300	6503	SO:0001583	missense	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586056T>A		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.491T>A	14.37:g.20586056T>A	ENSP00000319197:p.Met164Lys						p.M164K	NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	491	+	all_cancers(95;0.00108)		136			Cytoplasmic (Potential).		Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	c.491T>A	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	7.743	0.701656	0.15172	.	.	ENSG00000176230	ENST00000315543	T	0.18174	2.23	2.86	-0.956	0.10353	GPCR, rhodopsin-like superfamily (1);	0.561138	0.13408	U	0.390079	T	0.11707	0.0285	L	0.36672	1.1	0.09310	N	1	B	0.14438	0.01	B	0.20184	0.028	T	0.27331	-1.0077	10	0.66056	D	0.02	.	4.6499	0.12589	0.0:0.3956:0.1764:0.428	.	136	Q8NGC6	OR4KH_HUMAN	K	164	ENSP00000319197:M164K	ENSP00000319197:M164K	M	+	2	0	OR4K17	19655896	0.000000	0.05858	0.758000	0.31321	0.840000	0.47671	-7.157000	0.00043	-0.060000	0.13132	0.332000	0.21555	ATG		0.448	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1			19	81	0	0	0	0.007413	0	19	81				
OR4N5	390437	broad.mit.edu	37	14	20612048	20612048	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:20612048G>T	ENST00000333629.1	+	1	154	c.154G>T	c.(154-156)Gac>Tac	p.D52Y	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D52Y(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CATAAAGTCAGACCCTGGGCT	0.463																																							uc010tla.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(154-156)GAC>TAC		olfactory receptor, family 4, subfamily N,							208.0	211.0	210.0					14																	20612048		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612048G>T		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.154G>T	14.37:g.20612048G>T	ENSP00000332110:p.Asp52Tyr						p.D52Y	NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	154	+	all_cancers(95;0.00108)		52			Cytoplasmic (Potential).		Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.154G>T	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	G	8.610	0.888874	0.17540	.	.	ENSG00000184394	ENST00000333629	T	0.02974	4.09	3.99	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000463	T	0.22589	0.0545	H	0.95679	3.705	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.18335	-1.0340	10	0.72032	D	0.01	.	13.9655	0.64207	0.0:0.0:1.0:0.0	.	52	Q8IXE1	OR4N5_HUMAN	Y	52	ENSP00000332110:D52Y	ENSP00000332110:D52Y	D	+	1	0	OR4N5	19681888	0.000000	0.05858	0.681000	0.30009	0.014000	0.08584	0.008000	0.13197	2.214000	0.71695	0.650000	0.86243	GAC		0.463	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			44	256	1	0	2.64894e-19	0.00361	4.67724e-19	44	256				
OR11H4	390442	broad.mit.edu	37	14	20711524	20711524	+	Missense_Mutation	SNP	G	G	T	rs142588807	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:20711524G>T	ENST00000315409.2	+	1	627	c.574G>T	c.(574-576)Gac>Tac	p.D192Y		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D192Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		GTGTGACATGGACCCATTGAT	0.433																																							uc010tld.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(574-576)GAC>TAC		olfactory receptor, family 11, subfamily H,							180.0	166.0	171.0					14																	20711524		2203	4300	6503	SO:0001583	missense	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711524G>T		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.574G>T	14.37:g.20711524G>T	ENSP00000318997:p.Asp192Tyr						p.D192Y	NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	574	+	all_cancers(95;0.000888)		192			Extracellular (Potential).		B2RNQ4|Q6IF07	Missense_Mutation	SNP	ENST00000315409.2	37	c.574G>T	CCDS32034.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251714	0.39797	.	.	ENSG00000176198	ENST00000315409	T	0.00123	8.7	4.88	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.122334	0.37437	N	0.002095	T	0.00109	0.0003	N	0.16790	0.44	0.09310	N	1	P	0.35139	0.486	B	0.37267	0.245	T	0.52616	-0.8552	10	0.56958	D	0.05	-11.3068	10.5807	0.45255	0.0:0.0:0.8077:0.1923	.	192	Q8NGC9	O11H4_HUMAN	Y	192	ENSP00000318997:D192Y	ENSP00000318997:D192Y	D	+	1	0	OR11H4	19781364	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	0.406000	0.21032	2.529000	0.85273	0.655000	0.94253	GAC		0.433	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			23	132	1	0	2.32416e-17	0.002299	4.0548e-17	23	132				
PARP2	10038	broad.mit.edu	37	14	20820432	20820432	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:20820432G>A	ENST00000250416.5	+	7	592	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	PARP2_ENST00000429687.3_Missense_Mutation_p.E176K|PARP2_ENST00000527915.1_Missense_Mutation_p.E189K	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	189					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.E189K(1)|p.E140K(1)		central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		AAACAATTGGGAAGATCGAGA	0.368								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																															uc001vxc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(565-567)GAA>AAA	Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA	poly (ADP-ribose) polymerase family, member 2							110.0	99.0	103.0					14																	20820432		1834	4091	5925	SO:0001583	missense	10038				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	g.chr14:20820432G>A	AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.565G>A	14.37:g.20820432G>A	ENSP00000250416:p.Glu189Lys					PARP2_uc001vxd.2_Missense_Mutation_p.E176K|PARP2_uc001vxb.1_Missense_Mutation_p.E189K|PARP2_uc010tle.1_5'Flank	p.E189K	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)	7	593	+	all_cancers(95;0.00092)	all_lung(585;0.235)	189					Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	ENST00000250416.5	37	c.565G>A	CCDS41910.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104483	0.56291	.	.	ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915	T;T;T	0.18502	2.21;2.21;2.21	5.53	5.53	0.82687	WGR domain (4);	0.131051	0.51477	D	0.000082	T	0.23611	0.0571	L	0.54323	1.7	0.52501	D	0.999957	P;D	0.55172	0.514;0.97	B;P	0.53401	0.082;0.725	T	0.01753	-1.1281	10	0.19147	T	0.46	-25.3795	8.574	0.33587	0.1645:0.0:0.8355:0.0	.	176;189	Q9UGN5-2;Q9UGN5	.;PARP2_HUMAN	K	176;189;189	ENSP00000392972:E176K;ENSP00000250416:E189K;ENSP00000432283:E189K	ENSP00000250416:E189K	E	+	1	0	PARP2	19890272	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.216000	0.58540	2.606000	0.88127	0.563000	0.77884	GAA		0.368	PARP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000387847.2			9	58	0	0	0	0.004482	0	9	58				
CBLN3	643866	broad.mit.edu	37	14	24897532	24897532	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:24897532C>T	ENST00000267406.6	-	2	850	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	KHNYN_ENST00000251343.5_5'Flank|KHNYN_ENST00000556842.1_5'Flank|KHNYN_ENST00000553935.1_5'Flank|CBLN3_ENST00000555436.1_Missense_Mutation_p.R76Q	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	127	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.					cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)		p.R127Q(1)		central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		CACATGGAACCGGAAGCTGTA	0.647																																							uc001wpg.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(379-381)CGG>CAG		cerebellin 3 precursor							88.0	97.0	94.0					14																	24897532		2203	4300	6503	SO:0001583	missense	643866					cell junction|extracellular region|synapse		g.chr14:24897532C>T	AY359070	CCDS32057.1	14q12	2006-12-13				ENSG00000139899			20146	protein-coding gene	gene with protein product		612978				12975309	Standard	NM_001039771		Approved		uc001wpg.4	Q6UW01		ENST00000267406.6:c.380G>A	14.37:g.24897532C>T	ENSP00000267406:p.Arg127Gln					KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank	p.R127Q	NM_001039771	NP_001034860	Q6UW01	CBLN3_HUMAN		GBM - Glioblastoma multiforme(265;0.00159)	2	851	-			127			Necessary for interaction with CBLN3, and homotrimerization (By similarity).|C1q.			Missense_Mutation	SNP	ENST00000267406.6	37	c.380G>A	CCDS32057.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645496	0.67358	.	.	ENSG00000139899	ENST00000267406;ENST00000555436	T;T	0.74842	-0.88;-0.88	5.45	4.54	0.55810	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.138983	0.33401	N	0.004956	T	0.47229	0.1434	N	0.03948	-0.315	0.33630	D	0.605879	P	0.38395	0.629	B	0.23018	0.043	T	0.64466	-0.6401	10	0.72032	D	0.01	-16.9282	13.0985	0.59206	0.1618:0.8382:0.0:0.0	.	127	Q6UW01	CBLN3_HUMAN	Q	127;76	ENSP00000267406:R127Q;ENSP00000450935:R76Q	ENSP00000267406:R127Q	R	-	2	0	CBLN3	23967372	0.652000	0.27349	0.994000	0.49952	0.985000	0.73830	0.765000	0.26546	1.242000	0.43836	0.561000	0.74099	CGG		0.647	CBLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412943.1	XM_115232		31	108	0	0	0	0.008361	0	31	108				
NOVA1	4857	broad.mit.edu	37	14	26917372	26917372	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:26917372T>A	ENST00000539517.2	-	5	1634	c.1317A>T	c.(1315-1317)aaA>aaT	p.K439N	NOVA1_ENST00000267422.7_Missense_Mutation_p.K317N|NOVA1_ENST00000465357.2_Missense_Mutation_p.K415N	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	442	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K439N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TTTTCCCTCCTTTGCCAAGTA	0.443																																							uc001wpy.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(1315-1317)AAA>AAT		neuro-oncological ventral antigen 1 isoform 1							147.0	120.0	129.0					14																	26917372		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917372T>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.1317A>T	14.37:g.26917372T>A	ENSP00000438875:p.Lys439Asn					NOVA1_uc001wpz.2_Missense_Mutation_p.K415N|NOVA1_uc001wqa.2_Missense_Mutation_p.K317N	p.K439N	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1635	-			442			KH 3.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.1317A>T	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	T	13.20	2.166275	0.38217	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	T;T;T	0.44881	0.91;0.91;0.91	5.92	5.92	0.95590	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	M	0.87456	2.885	0.54753	D	0.999984	D;D;D	0.69078	0.975;0.991;0.997	D;D;D	0.79108	0.987;0.992;0.991	T	0.75838	-0.3176	10	0.87932	D	0	-21.1147	16.3593	0.83251	0.0:0.0:0.0:1.0	.	442;415;439	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	N	415;439;317	ENSP00000447391:K415N;ENSP00000438875:K439N;ENSP00000267422:K317N	ENSP00000267422:K317N	K	-	3	2	NOVA1	25987212	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.281000	0.72632	2.267000	0.75376	0.383000	0.25322	AAA		0.443	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		3	38	0	0	0	0.009096	0	3	38				
FOXG1	2290	broad.mit.edu	37	14	29237307	29237307	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:29237307G>T	ENST00000313071.4	+	1	1021	c.822G>T	c.(820-822)cgG>cgT	p.R274R	RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|FOXG1_ENST00000382535.3_Silent_p.R274R	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	274				Missing (in Ref. 1; CAA52240 and 2; CAA55038). {ECO:0000305}.	aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R274R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GCAAGCTGCGGCGCCGCTCCA	0.701																																							uc001wqe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)	4						c.(820-822)CGG>CGT		forkhead box G1							28.0	32.0	31.0					14																	29237307		2203	4298	6501	SO:0001819	synonymous_variant	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237307G>T		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.822G>T	14.37:g.29237307G>T							p.R274R	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1021	+			274	Missing (in Ref. 1; CAA52240 and 2; CAA55038).		Fork-head.		A6NFY2|P55315|Q14488|Q86XT7	Silent	SNP	ENST00000313071.4	37	c.822G>T	CCDS9636.1																																																																																				0.701	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			4	19	1	0	3.59834e-05	0.001168	4.59055e-05	4	19				
FOXG1	2290	broad.mit.edu	37	14	29237327	29237327	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:29237327G>C	ENST00000313071.4	+	1	1041	c.842G>C	c.(841-843)cGg>cCg	p.R281P	RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.R281P	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	281				R -> P (in Ref. 1; CAA52239/CAA52240 and 2; CAA55038). {ECO:0000305}.	aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R281P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ACCACCTCGCGGGCCAAGCTG	0.701																																							uc001wqe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(841-843)CGG>CCG		forkhead box G1							29.0	35.0	33.0					14																	29237327		2201	4298	6499	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237327G>C		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.842G>C	14.37:g.29237327G>C	ENSP00000339004:p.Arg281Pro						p.R281P	NM_005249	NP_005240	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	1	1041	+			281	R -> P (in Ref. 1; CAA52239/CAA52240 and 2; CAA55038).				A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.842G>C	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968876	0.92855	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.95342	-3.68;-3.68	4.05	4.05	0.47172	.	0.000000	0.64402	U	0.000001	D	0.96993	0.9018	M	0.81179	2.53	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.97383	0.9984	10	0.54805	T	0.06	.	15.7834	0.78281	0.0:0.0:1.0:0.0	.	281	P55316	FOXG1_HUMAN	P	281	ENSP00000371975:R281P;ENSP00000339004:R281P	ENSP00000339004:R281P	R	+	2	0	FOXG1	28307078	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.606000	0.82863	1.777000	0.52277	0.313000	0.20887	CGG		0.701	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			5	22	0	0	0	0.000602	0	5	22				
FRMD6	122786	broad.mit.edu	37	14	52188791	52188791	+	Silent	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:52188791A>T	ENST00000344768.5	+	12	1681	c.1485A>T	c.(1483-1485)ggA>ggT	p.G495G	FRMD6_ENST00000553556.1_Silent_p.G137G|FRMD6_ENST00000395718.2_Silent_p.G487G|RNU6-301P_ENST00000384277.1_RNA|FRMD6_ENST00000554167.1_Silent_p.G418G|FRMD6_ENST00000356218.4_Silent_p.G487G			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	495					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.G487G(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AGCTGAATGGACACTCTGGTG	0.507																																							uc001wzd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1483-1485)GGA>GGT		FERM domain containing 6							94.0	90.0	92.0					14																	52188791		2203	4300	6503	SO:0001819	synonymous_variant	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52188791A>T	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1485A>T	14.37:g.52188791A>T						FRMD6_uc001wzb.2_Silent_p.G487G|FRMD6_uc001wzc.2_Silent_p.G487G|FRMD6_uc001wze.2_Silent_p.G418G|FRMD6_uc001wzf.2_Silent_p.G188G|FRMD6_uc001wzg.2_Silent_p.G137G	p.G495G	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN			12	1770	+	all_epithelial(31;0.0163)|Breast(41;0.089)		495					D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Silent	SNP	ENST00000344768.5	37	c.1485A>T	CCDS58318.1																																																																																				0.507	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		10	35	0	0	0	0.000978	0	10	35				
NID2	22795	broad.mit.edu	37	14	52505683	52505683	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:52505683G>C	ENST00000216286.5	-	9	2038	c.2039C>G	c.(2038-2040)aCa>aGa	p.T680R	NID2_ENST00000541773.1_Missense_Mutation_p.T627R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	680	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.T680R(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCTGGAACTTGTAGAGGTCAC	0.418																																							uc001wzo.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(2038-2040)ACA>AGA		nidogen 2 precursor							91.0	85.0	87.0					14																	52505683		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52505683G>C	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2039C>G	14.37:g.52505683G>C	ENSP00000216286:p.Thr680Arg					NID2_uc010tqs.1_Missense_Mutation_p.T680R|NID2_uc010tqt.1_Missense_Mutation_p.T680R|NID2_uc001wzp.2_Missense_Mutation_p.T680R	p.T680R	NM_007361	NP_031387	Q14112	NID2_HUMAN			9	2273	-	Breast(41;0.0639)|all_epithelial(31;0.123)		680			Nidogen G2 beta-barrel.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.2039C>G	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821352	0.71028	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.28895	1.59;1.59	6.17	6.17	0.99709	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.362123	0.33005	N	0.005394	T	0.56731	0.2005	M	0.69823	2.125	0.39764	D	0.972077	P;P;D;P	0.63880	0.91;0.883;0.993;0.924	P;B;D;P	0.67900	0.821;0.397;0.954;0.877	T	0.49634	-0.8919	10	0.40728	T	0.16	.	20.4745	0.99168	0.0:0.0:1.0:0.0	.	274;627;682;680	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	R	680;274;627;682	ENSP00000216286:T680R;ENSP00000443730:T627R	ENSP00000216286:T680R	T	-	2	0	NID2	51575433	0.994000	0.37717	0.996000	0.52242	0.940000	0.58332	3.992000	0.56980	2.941000	0.99782	0.655000	0.94253	ACA		0.418	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			7	38	0	0	0	0.001984	0	7	38				
HIF1A	3091	broad.mit.edu	37	14	62199167	62199167	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:62199167G>T	ENST00000337138.4	+	7	1070	c.805G>T	c.(805-807)Gaa>Taa	p.E269*	HIF1A_ENST00000539097.1_Nonsense_Mutation_p.E293*|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000323441.6_Nonsense_Mutation_p.E269*|HIF1A_ENST00000394997.1_Nonsense_Mutation_p.E270*|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_Nonsense_Mutation_p.E210*	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	269	Interaction with TSGA10. {ECO:0000250}.|PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.E269*(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TGAGCCAGAAGAACTTTTAGG	0.338																																							uc001xfq.2		NA																	1	Substitution - Nonsense(1)		lung(1)	kidney(3)|lung(1)	4						c.(805-807)GAA>TAA		hypoxia-inducible factor 1, alpha subunit							131.0	135.0	134.0					14																	62199167		2203	4300	6503	SO:0001587	stop_gained	3091				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:62199167G>T	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.805G>T	14.37:g.62199167G>T	ENSP00000338018:p.Glu269*					HIF1A_uc001xfr.2_Nonsense_Mutation_p.E269*|HIF1A_uc001xfs.2_Nonsense_Mutation_p.E270*	p.E269*	NM_001530	NP_001521	Q16665	HIF1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	7	1209	+			269			PAS 2.|Interaction with TSGA10 (By similarity).		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Nonsense_Mutation	SNP	ENST00000337138.4	37	c.805G>T	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	G	40	8.017481	0.98613	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	.	.	.	5.68	4.78	0.61160	.	0.044884	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9697	0.80004	0.0:0.0:0.8641:0.1359	.	.	.	.	X	20;210;269;270;269;210;293	.	ENSP00000323326:E269X	E	+	1	0	HIF1A	61268920	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.804000	0.85993	1.379000	0.46325	0.650000	0.86243	GAA		0.338	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530		16	135	1	0	1.33834e-09	0.007413	2.02552e-09	16	135				
TDP1	55775	broad.mit.edu	37	14	90429941	90429942	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:90429941_90429942GA>TT	ENST00000335725.4	+	3	733_734	c.483_484GA>TT	c.(481-486)ggGAac>ggTTac	p.N162Y	TDP1_ENST00000555565.1_Intron|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000393452.3_Missense_Mutation_p.N162Y|TDP1_ENST00000393454.2_Missense_Mutation_p.N162Y|TDP1_ENST00000555880.1_Missense_Mutation_p.N162Y	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	162					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)	p.N162Y(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TGGATAAAGGGAACCCCTTCCA	0.52								Repair of DNA-protein crosslinks																															uc001xxy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(481-486)GGGAAC>GGTTAC	Repair_of_DNA-protein_crosslinks	tyrosyl-DNA phosphodiesterase 1																																				SO:0001583	missense	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90429941_90429942GA>TT	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		Exception_encountered	14.37:g.90429941_90429942delinsTT	ENSP00000337353:p.Asn162Tyr					TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.N162Y|TDP1_uc010atn.2_Missense_Mutation_p.N162Y|TDP1_uc001xya.2_5'UTR|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.N162Y|TDP1_uc001xyc.1_Missense_Mutation_p.N162Y	p.N162Y	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	3	782_783	+		all_cancers(154;0.185)	162					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	DNP	ENST00000335725.4	37	c.483_484GA>TT	CCDS9888.1																																																																																				0.520	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		9	43	0	0	0	0.004672	0	9	43				
TRIP11	9321	broad.mit.edu	37	14	92491728	92491728	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:92491728C>T	ENST00000267622.4	-	3	611	c.238G>A	c.(238-240)Gag>Aag	p.E80K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	80					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.E80K(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCATGTTTCTCTTCTAGATCA	0.303			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	Ovarian(84;609 1888 9852 42686)	uc001xzy.2		NA		Dom	yes		14	14q31-q32	9321	T	thyroid hormone receptor interactor 11			L	PDGFRB		AML		1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1)	13						c.(238-240)GAG>AAG		thyroid hormone receptor interactor 11							177.0	155.0	163.0					14																	92491728		2203	4299	6502	SO:0001583	missense	9321				transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	g.chr14:92491728C>T	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.238G>A	14.37:g.92491728C>T	ENSP00000267622:p.Glu80Lys						p.E80K	NM_004239	NP_004230	Q15643	TRIPB_HUMAN		COAD - Colon adenocarcinoma(157;0.223)	3	1026	-			80			Potential.		B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	c.238G>A	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	c	34	5.344778	0.95807	.	.	ENSG00000100815	ENST00000267622	T	0.66460	-0.21	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.81432	0.4821	M	0.68593	2.085	0.49389	D	0.999789	D	0.89917	1.0	D	0.91635	0.999	T	0.82532	-0.0410	10	0.62326	D	0.03	.	19.0868	0.93206	0.0:1.0:0.0:0.0	.	80	Q15643	TRIPB_HUMAN	K	80	ENSP00000267622:E80K	ENSP00000267622:E80K	E	-	1	0	TRIP11	91561481	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.617000	0.74210	2.506000	0.84524	0.563000	0.77884	GAG		0.303	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1			5	41	0	0	0	0.000602	0	5	41				
UNC79	57578	broad.mit.edu	37	14	94088672	94088672	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:94088672C>A	ENST00000393151.2	+	30	5093	c.5093C>A	c.(5092-5094)tCt>tAt	p.S1698Y	UNC79_ENST00000553484.1_Missense_Mutation_p.S1720Y|UNC79_ENST00000555664.1_Missense_Mutation_p.S1698Y|UNC79_ENST00000256339.4_Missense_Mutation_p.S1521Y			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1698					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1720Y(1)|p.S1521Y(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GACTTTTCTTCTAAGGACTCA	0.537																																							uc001ybv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(4)|large_intestine(3)	17						c.(4627-4629)TCT>TAT		hypothetical protein LOC57578							64.0	68.0	66.0					14																	94088672		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088672C>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5093C>A	14.37:g.94088672C>A	ENSP00000376858:p.Ser1698Tyr					KIAA1409_uc001ybs.1_Missense_Mutation_p.S1521Y	p.S1543Y	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	28	4711	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1698					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.4628C>A		.	.	.	.	.	.	.	.	.	.	C	11.81	1.750161	0.30955	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.20598	2.08;2.06;2.09;2.08	4.97	4.08	0.47627	.	0.186962	0.46145	D	0.000304	T	0.18130	0.0435	N	0.24115	0.695	0.25628	N	0.986335	P	0.46220	0.874	B	0.44224	0.444	T	0.04708	-1.0932	10	0.72032	D	0.01	-4.665	13.3706	0.60711	0.0:0.923:0.0:0.077	.	1720	C9JQL1	.	Y	1521;1698;1720;1698;1720	ENSP00000256339:S1521Y;ENSP00000450868:S1698Y;ENSP00000451360:S1720Y;ENSP00000376858:S1698Y	ENSP00000256339:S1521Y	S	+	2	0	KIAA1409	93158425	0.969000	0.33509	0.912000	0.35992	0.663000	0.39108	2.479000	0.45197	1.099000	0.41499	0.313000	0.20887	TCT		0.537	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		15	63	1	0	7.93312e-07	0.00245	1.08598e-06	15	63				
DICER1	23405	broad.mit.edu	37	14	95562968	95562968	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:95562968C>A	ENST00000526495.1	-	25	4580	c.4289G>T	c.(4288-4290)aGg>aTg	p.R1430M	DICER1_ENST00000541352.1_Missense_Mutation_p.R1430M|DICER1_ENST00000527414.1_Missense_Mutation_p.R1430M|DICER1_ENST00000556045.1_Missense_Mutation_p.R328M|DICER1_ENST00000343455.3_Missense_Mutation_p.R1430M|DICER1_ENST00000393063.1_Missense_Mutation_p.R1430M			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1430					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.R1430M(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTTCGGAGCCCTCCACATCAG	0.468			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														uc001ydw.2		NA	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(4288-4290)AGG>ATG		dicer1							62.0	58.0	60.0					14																	95562968		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95562968C>A	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.4289G>T	14.37:g.95562968C>A	ENSP00000437256:p.Arg1430Met					DICER1_uc010avh.1_Missense_Mutation_p.R328M|DICER1_uc001ydv.2_Missense_Mutation_p.R1420M|DICER1_uc001ydx.2_Missense_Mutation_p.R1430M|DICER1_uc001ydy.1_Missense_Mutation_p.R282M	p.R1430M	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	24	4471	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1430					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.4289G>T	CCDS9931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.84|16.84	3.234486|3.234486	0.58886|0.58886	.|.	.|.	ENSG00000100697|ENSG00000100697	ENST00000532939|ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352	.|T;T;T;T;D;T	.|0.87029	.|0.35;0.35;0.35;0.35;-2.2;0.65	5.89|5.89	4.04|4.04	0.47022|0.47022	.|Ribonuclease III (3);	.|0.330908	.|0.37955	.|N	.|0.001880	D|D	0.83963|0.83963	0.5368|0.5368	N|N	0.08118|0.08118	0|0	0.41089|0.41089	D|D	0.985583|0.985583	.|D;B;B	.|0.69078	.|0.997;0.042;0.019	.|D;B;B	.|0.63113	.|0.911;0.056;0.015	D|D	0.84569|0.84569	0.0654|0.0654	5|10	.|0.46703	.|T	.|0.11	-6.1849|-6.1849	11.8748|11.8748	0.52541|0.52541	0.0:0.8111:0.1228:0.0661|0.0:0.8111:0.1228:0.0661	.|.	.|328;1430;1430	.|B3KRG4;E0AD28;Q9UPY3	.|.;.;DICER_HUMAN	D|M	108|1430;1430;1430;1430;328;1430	.|ENSP00000343745:R1430M;ENSP00000437256:R1430M;ENSP00000376783:R1430M;ENSP00000435681:R1430M;ENSP00000451041:R328M;ENSP00000444719:R1430M	.|ENSP00000343745:R1430M	E|R	-|-	3|2	2|0	DICER1|DICER1	94632721|94632721	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	2.751000|2.751000	0.47508|0.47508	0.797000|0.797000	0.33971|0.33971	0.561000|0.561000	0.74099|0.74099	GAG|AGG		0.468	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			4	28	1	0	0.00909568	0.009096	0.00987956	4	28				
TDRD9	122402	broad.mit.edu	37	14	104508469	104508469	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:104508469C>A	ENST00000409874.4	+	34	3967	c.3919C>A	c.(3919-3921)Ctt>Att	p.L1307I	TDRD9_ENST00000339063.5_Missense_Mutation_p.L1116I	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	1307					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|piP-body (GO:0071547)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.L831I(1)|p.L1307I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATGCAAGTGTCTTGGGCCAGA	0.458																																							uc001yom.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(3919-3921)CTT>ATT		tudor domain containing 9							142.0	131.0	134.0					14																	104508469		2203	4300	6503	SO:0001583	missense	122402				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr14:104508469C>A	AK093483	CCDS9987.2	14q32.33	2013-01-23	2004-04-01	2004-04-02	ENSG00000156414	ENSG00000156414		"""Tudor domain containing"""	20122	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 75"""	C14orf75			Standard	NM_153046		Approved	DKFZp434N0820, FLJ36164, NET54	uc001yom.4	Q8NDG6	OTTHUMG00000152876	ENST00000409874.4:c.3919C>A	14.37:g.104508469C>A	ENSP00000387303:p.Leu1307Ile					TDRD9_uc001yon.3_Missense_Mutation_p.L854I	p.L1307I	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN			34	3949	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)	1307					A1A4S7|Q6ZU54|Q8N7T3|Q8N827|Q8N9V5|Q96AS9	Missense_Mutation	SNP	ENST00000409874.4	37	c.3919C>A	CCDS9987.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.329|8.329	0.826077|0.826077	0.16749|0.16749	.|.	.|.	ENSG00000156414|ENSG00000156414	ENST00000409874;ENST00000339063|ENST00000557332	T;T|.	0.03860|.	3.91;3.78|.	4.5|4.5	4.5|4.5	0.54988|0.54988	.|.	0.360330|.	0.19801|.	U|.	0.105751|.	T|T	0.37571|0.37571	0.1008|0.1008	L|L	0.41710|0.41710	1.295|1.295	0.09310|0.09310	N|N	1|1	P;P|.	0.49090|.	0.728;0.919|.	B;B|.	0.41946|.	0.165;0.371|.	T|T	0.21314|0.21314	-1.0249|-1.0249	10|5	0.22109|.	T|.	0.4|.	.|.	7.3123|7.3123	0.26481|0.26481	0.0:0.8077:0.0:0.1923|0.0:0.8077:0.0:0.1923	.|.	1116;1307|.	Q8NDG6-2;Q8NDG6|.	.;TDRD9_HUMAN|.	I|Y	1307;1116|842	ENSP00000387303:L1307I;ENSP00000343545:L1116I|.	ENSP00000343545:L1116I|.	L|S	+|+	1|2	0|0	TDRD9|TDRD9	103578222|103578222	0.210000|0.210000	0.23517|0.23517	0.275000|0.275000	0.24674|0.24674	0.011000|0.011000	0.07611|0.07611	1.885000|1.885000	0.39678|0.39678	2.194000|2.194000	0.70268|0.70268	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.458	TDRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328325.3	NM_153046		13	42	1	0	0.00185496	0.001855	0.00211871	13	42				
AHNAK2	113146	broad.mit.edu	37	14	105411259	105411259	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:105411259G>T	ENST00000333244.5	-	7	10648	c.10529C>A	c.(10528-10530)tCc>tAc	p.S3510Y	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3510						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.S3510Y(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGCATGGAGGAGAGGCTCAC	0.637																																							uc010axc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(10528-10530)TCC>TAC		AHNAK nucleoprotein 2							123.0	134.0	131.0					14																	105411259		1938	4117	6055	SO:0001583	missense	113146					nucleus		g.chr14:105411259G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10529C>A	14.37:g.105411259G>T	ENSP00000353114:p.Ser3510Tyr					AHNAK2_uc001ypx.2_Missense_Mutation_p.S3410Y	p.S3510Y	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10649	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3510					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10529C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	11.88	1.770258	0.31320	.	.	ENSG00000185567	ENST00000333244	T	0.01092	5.35	4.08	2.19	0.27852	.	.	.	.	.	T	0.01061	0.0035	N	0.19112	0.55	0.09310	N	1	B	0.32653	0.379	B	0.34242	0.178	T	0.50980	-0.8763	9	0.62326	D	0.03	.	6.4647	0.21975	0.1042:0.2048:0.691:0.0	.	3510	Q8IVF2	AHNK2_HUMAN	Y	3510	ENSP00000353114:S3510Y	ENSP00000353114:S3510Y	S	-	2	0	AHNAK2	104482304	0.201000	0.23410	0.000000	0.03702	0.003000	0.03518	0.643000	0.24750	0.190000	0.20209	0.205000	0.17691	TCC		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		12	116	1	0	3.27435e-08	0.00245	4.68405e-08	12	116				
NPAP1	23742	broad.mit.edu	37	15	24922632	24922632	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:24922632A>C	ENST00000329468.2	+	1	2092	c.1618A>C	c.(1618-1620)Acc>Ccc	p.T540P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	540					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											TTCCACCGGGACCTCAGTTAT	0.527																																							uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(1618-1620)ACC>CCC		hypothetical protein LOC23742							175.0	172.0	173.0					15																	24922632		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24922632A>C	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1618A>C	15.37:g.24922632A>C	ENSP00000333735:p.Thr540Pro						p.T540P	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	2092	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	540						Missense_Mutation	SNP	ENST00000329468.2	37	c.1618A>C	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	6.744	0.506073	0.12883	.	.	ENSG00000185823	ENST00000329468	T	0.06933	3.24	1.82	-1.06	0.10002	.	1.887610	0.03308	N	0.190158	T	0.07098	0.0180	L	0.34521	1.04	0.09310	N	1	B	0.18968	0.032	B	0.08055	0.003	T	0.37934	-0.9684	10	0.27082	T	0.32	.	5.9559	0.19273	0.4359:0.5641:0.0:0.0	.	540	Q9NZP6	CO002_HUMAN	P	540	ENSP00000333735:T540P	ENSP00000333735:T540P	T	+	1	0	C15orf2	22473725	0.001000	0.12720	0.000000	0.03702	0.341000	0.28922	0.459000	0.21908	-0.264000	0.09365	0.172000	0.16884	ACC		0.527	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		28	140	0	0	0	0.002096	0	28	140				
CHRNA7	1139	broad.mit.edu	37	15	32393544	32393544	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:32393544G>T	ENST00000306901.3	+	3	331	c.234G>T	c.(232-234)ctG>ctT	p.L78L	CHRNA7_ENST00000454250.3_Silent_p.L107L|CHRNA7_ENST00000455693.2_5'UTR	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	78					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)	p.L78L(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	ACATTTGGCTGCAAATGGTAA	0.378																																					Esophageal Squamous(193;529 2900 40232 43193)	Esophageal Squamous(193;529 2900 40232 43193)	uc001zft.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(232-234)CTG>CTT		cholinergic receptor, nicotinic, alpha 7	Nicotine(DB00184)|Varenicline(DB01273)						143.0	138.0	139.0					15																	32393544		2201	4300	6501	SO:0001819	synonymous_variant	1139				activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding	g.chr15:32393544G>T	Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.234G>T	15.37:g.32393544G>T						CHRNA7_uc010bab.1_Silent_p.L78L|CHRNA7_uc010bac.1_Silent_p.L78L|CHRNA7_uc010bad.1_RNA|CHRNA7_uc010bae.1_RNA|CHRNA7_uc010baf.2_5'UTR|CHRNA7_uc010bag.1_RNA|CHRNA7_uc010bah.1_RNA	p.L78L	NM_000746	NP_000737	P36544	ACHA7_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	3	306	+		all_lung(180;6.35e-11)	78			Extracellular (Potential).		A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Silent	SNP	ENST00000306901.3	37	c.234G>T	CCDS10027.1																																																																																				0.378	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2			20	105	1	0	1.2644e-06	0.010504	1.7244e-06	20	105				
ZNF770	54989	broad.mit.edu	37	15	35275448	35275448	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:35275448G>A	ENST00000356321.4	-	3	532	c.188C>T	c.(187-189)aCc>aTc	p.T63I		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	63					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.T63I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTGTCTAAAGGTTTTATGACA	0.338																																							uc001ziw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(187-189)ACC>ATC		zinc finger protein 770							78.0	76.0	76.0					15																	35275448		2201	4298	6499	SO:0001583	missense	54989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:35275448G>A	BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.188C>T	15.37:g.35275448G>A	ENSP00000348673:p.Thr63Ile						p.T63I	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)	3	499	-		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)	63			C2H2-type 2.		Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	ENST00000356321.4	37	c.188C>T	CCDS10042.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.079591	0.36662	.	.	ENSG00000198146	ENST00000356321	T	0.20881	2.04	5.0	4.06	0.47325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.268640	0.28442	N	0.015329	T	0.34571	0.0902	L	0.46947	1.48	0.22112	N	0.999354	D	0.63880	0.993	D	0.67725	0.953	T	0.05716	-1.0868	10	0.62326	D	0.03	-1.2573	9.4194	0.38541	0.0:0.1512:0.6809:0.1679	.	63	Q6IQ21	ZN770_HUMAN	I	63	ENSP00000348673:T63I	ENSP00000348673:T63I	T	-	2	0	ZNF770	33062740	0.781000	0.28676	1.000000	0.80357	0.998000	0.95712	1.064000	0.30579	1.271000	0.44313	0.655000	0.94253	ACC		0.338	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251896.2	NM_014106		8	74	0	0	0	0.006214	0	8	74				
TYRO3	7301	broad.mit.edu	37	15	41865602	41865602	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:41865602G>T	ENST00000263798.3	+	17	2306	c.2082G>T	c.(2080-2082)ctG>ctT	p.L694L	TYRO3_ENST00000559066.1_Silent_p.L649L	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	694	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L694L(1)|p.L686L(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCTCCAAACTGCCTGTCAAGT	0.592																																							uc001zof.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|central_nervous_system(1)	6						c.(2080-2082)CTG>CTT		TYRO3 protein tyrosine kinase precursor							136.0	142.0	140.0					15																	41865602		2203	4300	6503	SO:0001819	synonymous_variant	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41865602G>T	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.2082G>T	15.37:g.41865602G>T							p.L694L	NM_006293	NP_006284	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	17	2306	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	694			Protein kinase.|Cytoplasmic (Potential).		O14953|Q86VR3	Silent	SNP	ENST00000263798.3	37	c.2082G>T	CCDS10080.1																																																																																				0.592	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			27	168	1	0	2.27525e-19	0.003954	4.03692e-19	27	168				
STRC	161497	broad.mit.edu	37	15	43901484	43901484	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:43901484T>A	ENST00000450892.2	-	16	3624	c.3547A>T	c.(3547-3549)Agg>Tgg	p.R1183W	STRC_ENST00000541030.1_Missense_Mutation_p.R410W	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1183					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)		p.R1183W(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGCAGATTCCTGAGGGTAAGG	0.473																																							uc001zsf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3547-3549)AGG>TGG		stereocilin precursor							165.0	174.0	171.0					15																	43901484		2168	4297	6465	SO:0001583	missense	161497				sensory perception of sound	cell surface		g.chr15:43901484T>A	BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.3547A>T	15.37:g.43901484T>A	ENSP00000401513:p.Arg1183Trp					STRC_uc010bdl.2_Missense_Mutation_p.R410W|STRC_uc001zse.2_5'UTR	p.R1183W	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	16	3625	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	1183						Missense_Mutation	SNP	ENST00000450892.2	37	c.3547A>T	CCDS10098.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.462716	0.63513	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.79141	-1.24;-1.22	4.73	4.73	0.59995	.	0.000000	0.64402	D	0.000002	T	0.79028	0.4377	N	0.24115	0.695	0.40253	D	0.97809	D;D	0.76494	0.999;0.999	D;D	0.81914	0.965;0.995	T	0.81571	-0.0872	10	0.72032	D	0.01	-11.5882	10.6416	0.45596	0.0:0.0:0.0:1.0	.	410;1183	F5GXA4;Q7RTU9	.;STRC_HUMAN	W	1183;1183;410	ENSP00000401513:R1183W;ENSP00000440413:R410W	ENSP00000299992:R1183W	R	-	1	2	STRC	41688776	0.996000	0.38824	0.996000	0.52242	0.726000	0.41606	2.346000	0.44027	1.769000	0.52152	0.454000	0.30748	AGG		0.473	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133140.1	NM_153700		14	80	0	0	0	0.003163	0	14	80				
MFAP1	4236	broad.mit.edu	37	15	44097385	44097385	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:44097385C>T	ENST00000267812.3	-	9	1459	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	409					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)	p.E409E(1)		breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TCTGGGCACTCTCTTGGCCCC	0.507																																							uc001zth.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1225-1227)GAG>GAA		microfibrillar-associated protein 1							114.0	105.0	108.0					15																	44097385		2198	4298	6496	SO:0001819	synonymous_variant	4236					microfibril		g.chr15:44097385C>T		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.1227G>A	15.37:g.44097385C>T							p.E409E	NM_005926	NP_005917	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	9	1411	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	409					Q86TG6	Silent	SNP	ENST00000267812.3	37	c.1227G>A	CCDS10105.1																																																																																				0.507	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		8	71	0	0	0	0.00308	0	8	71				
NOX5	79400	broad.mit.edu	37	15	69328113	69328113	+	Missense_Mutation	SNP	C	C	G	rs375359043		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:69328113C>G	ENST00000388866.3	+	7	1066	c.1025C>G	c.(1024-1026)gCg>gGg	p.A342G	NOX5_ENST00000530406.2_Missense_Mutation_p.A314G|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000448182.3_Missense_Mutation_p.A296G|NOX5_ENST00000260364.5_Missense_Mutation_p.A324G|NOX5_ENST00000455873.3_Missense_Mutation_p.A307G	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	342	Ferric oxidoreductase.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.A324G(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAGGCTCAGGCGGAGGCCAGC	0.612																																							uc002ars.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|pancreas(1)	2						c.(1024-1026)GCG>GGG		NADPH oxidase, EF-hand calcium binding domain 5							77.0	69.0	72.0					15																	69328113		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69328113C>G	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1025C>G	15.37:g.69328113C>G	ENSP00000373518:p.Ala342Gly					NOX5_uc002arp.1_Missense_Mutation_p.A324G|NOX5_uc002arq.1_Missense_Mutation_p.A296G|NOX5_uc010bid.1_Missense_Mutation_p.A307G|NOX5_uc002arr.1_Missense_Mutation_p.A314G|NOX5_uc010bie.1_Missense_Mutation_p.A142G|NOX5_uc010bif.1_RNA	p.A342G	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			7	1045	+			342			Extracellular (Potential).|Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.1025C>G	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	C	7.377	0.627957	0.14257	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.91011	-2.77;-2.77;-2.77	3.44	1.2	0.21068	Flavoprotein transmembrane component (1);	1.225170	0.05649	N	0.584870	D	0.84234	0.5427	L	0.38175	1.15	0.09310	N	1	B;B;B	0.27316	0.145;0.175;0.145	B;B;B	0.32393	0.056;0.145;0.056	T	0.71663	-0.4525	10	0.27785	T	0.31	-4.9358	1.7247	0.02919	0.3063:0.4104:0.164:0.1193	.	307;342;314	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	G	307;324;342;314	ENSP00000416828:A307G;ENSP00000373518:A342G;ENSP00000432440:A314G	ENSP00000373518:A342G	A	+	2	0	NOX5	67115167	0.001000	0.12720	0.098000	0.21074	0.214000	0.24535	-0.052000	0.11865	1.463000	0.47967	0.462000	0.41574	GCG		0.612	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		4	50	0	0	0	0.00308	0	4	50				
NEO1	4756	broad.mit.edu	37	15	73552647	73552647	+	Missense_Mutation	SNP	G	G	T	rs552246012		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:73552647G>T	ENST00000339362.5	+	16	2686	c.2239G>T	c.(2239-2241)Gta>Tta	p.V747L	NEO1_ENST00000261908.6_Missense_Mutation_p.V747L|NEO1_ENST00000558964.1_Missense_Mutation_p.V747L|NEO1_ENST00000560262.1_Missense_Mutation_p.V747L			Q92859	NEO1_HUMAN	neogenin 1	747	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.V747L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTCTCTTCACGTACGCCCGCT	0.478																																							uc002avm.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2239-2241)GTA>TTA		neogenin homolog 1 precursor							122.0	103.0	109.0					15																	73552647		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73552647G>T	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.2239G>T	15.37:g.73552647G>T	ENSP00000341198:p.Val747Leu					NEO1_uc010ukx.1_Missense_Mutation_p.V747L|NEO1_uc010uky.1_Missense_Mutation_p.V747L|NEO1_uc010ukz.1_Missense_Mutation_p.V171L|NEO1_uc002avn.3_Missense_Mutation_p.V412L	p.V747L	NM_002499	NP_002490	Q92859	NEO1_HUMAN			15	2381	+			747			Extracellular (Potential).|Fibronectin type-III 4.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.2239G>T	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408189	0.96051	.	.	ENSG00000067141	ENST00000339362;ENST00000379842;ENST00000261908	T;T	0.59638	0.25;0.25	5.39	5.39	0.77823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71409	0.3336	L	0.45051	1.395	0.80722	D	1	D;P;P;D	0.76494	0.999;0.774;0.893;0.999	D;P;D;D	0.91635	0.999;0.907;0.962;0.999	T	0.72308	-0.4332	10	0.62326	D	0.03	-17.5081	19.5134	0.95153	0.0:0.0:1.0:0.0	.	747;747;485;747	B7ZKM9;B7ZKN0;E7EUX3;Q92859	.;.;.;NEO1_HUMAN	L	747;485;747	ENSP00000341198:V747L;ENSP00000261908:V747L	ENSP00000261908:V747L	V	+	1	0	NEO1	71339700	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.813000	0.99286	2.696000	0.92011	0.655000	0.94253	GTA		0.478	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		10	50	1	0	2.80697e-09	0.000978	4.19611e-09	10	50				
HCN4	10021	broad.mit.edu	37	15	73617434	73617434	+	Missense_Mutation	SNP	C	C	G	rs201319883		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:73617434C>G	ENST00000261917.3	-	6	2833	c.1840G>C	c.(1840-1842)Gag>Cag	p.E614Q		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	614					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.E614Q(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGAAGACCTCGAAACGCAGC	0.552																																							uc002avp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|liver(1)	6						c.(1840-1842)GAG>CAG		hyperpolarization activated cyclic							146.0	120.0	129.0					15																	73617434		2198	4297	6495	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73617434C>G	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1840G>C	15.37:g.73617434C>G	ENSP00000261917:p.Glu614Gln						p.E614Q	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	6	2834	-			614			Cytoplasmic (Potential).|cAMP.		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.1840G>C	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.718735	0.68844	.	.	ENSG00000138622	ENST00000261917	D	0.92647	-3.08	3.65	3.65	0.41850	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	.	.	.	.	D	0.94742	0.8303	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93932	0.7215	9	0.35671	T	0.21	.	15.5397	0.76031	0.0:1.0:0.0:0.0	.	614	Q9Y3Q4	HCN4_HUMAN	Q	614	ENSP00000261917:E614Q	ENSP00000261917:E614Q	E	-	1	0	HCN4	71404487	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.526000	0.81920	1.877000	0.54381	0.561000	0.74099	GAG		0.552	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		7	68	0	0	0	0.00308	0	7	68				
GOLGA6A	342096	broad.mit.edu	37	15	74373006	74373006	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:74373006T>G	ENST00000290438.3	-	2	195	c.155A>C	c.(154-156)gAc>gCc	p.D52A		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	52						Golgi apparatus (GO:0005794)		p.D52A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						AGGGCTACTGTCAGTTTTTTT	0.517																																							uc002axa.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(154-156)GAC>GCC		golgi autoantigen, golgin subfamily a, 6							23.0	23.0	23.0					15																	74373006		2194	4273	6467	SO:0001583	missense	342096							g.chr15:74373006T>G	AF263742	CCDS32290.1	15q24.1	2013-05-10	2010-02-12	2009-09-28	ENSG00000159289	ENSG00000159289			13567	protein-coding gene	gene with protein product		610288	"""golgi autoantigen, golgin subfamily a, member 6"", ""golgi autoantigen, golgin subfamily a, 6"", ""golgi autoantigen, golgin subfamily a, 6A"""	GOLGA6		11161787	Standard	NM_001038640		Approved	GLP	uc002axa.1	Q9NYA3	OTTHUMG00000173035	ENST00000290438.3:c.155A>C	15.37:g.74373006T>G	ENSP00000290438:p.Asp52Ala						p.D52A	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN			2	196	-			52			Potential.		A8K959|Q9NYA7	Missense_Mutation	SNP	ENST00000290438.3	37	c.155A>C	CCDS32290.1	.	.	.	.	.	.	.	.	.	.	t	2.994	-0.207462	0.06180	.	.	ENSG00000159289	ENST00000290438	T	0.16597	2.33	1.57	-1.83	0.07833	.	.	.	.	.	T	0.04452	0.0122	N	0.00729	-1.24	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36553	-0.9743	9	0.87932	D	0	.	5.1892	0.15201	0.0:0.4311:0.0:0.5689	.	52	Q9NYA3	GOG6A_HUMAN	A	52	ENSP00000290438:D52A	ENSP00000290438:D52A	D	-	2	0	GOLGA6A	72160059	0.019000	0.18553	0.002000	0.10522	0.003000	0.03518	0.029000	0.13666	-0.574000	0.05990	-1.372000	0.01188	GAC		0.517	GOLGA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421835.1	XM_292357		4	63	0	0	0	0.001984	0	4	63				
SEMA7A	8482	broad.mit.edu	37	15	74709697	74709697	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:74709697T>G	ENST00000261918.4	-	6	1188	c.640A>C	c.(640-642)Acc>Ccc	p.T214P	SEMA7A_ENST00000542748.1_Missense_Mutation_p.T49P|SEMA7A_ENST00000543145.2_Missense_Mutation_p.T200P	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	214	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.T214P(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GTATCACTGGTGTACAGCTCA	0.587																																							uc002axv.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(640-642)ACC>CCC		semaphorin 7A isoform 1 preproprotein							112.0	107.0	109.0					15																	74709697		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74709697T>G	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.640A>C	15.37:g.74709697T>G	ENSP00000261918:p.Thr214Pro					SEMA7A_uc010ulk.1_Missense_Mutation_p.T49P|SEMA7A_uc010ull.1_Missense_Mutation_p.T200P	p.T214P	NM_003612	NP_003603	O75326	SEM7A_HUMAN			6	680	-			214			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.640A>C	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.236105	0.79800	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.29655	1.56;1.56;1.56	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.054449	0.64402	D	0.000001	T	0.62588	0.2440	M	0.92367	3.3	0.44908	D	0.99792	D;D	0.71674	0.998;0.998	D;D	0.67231	0.917;0.95	T	0.72814	-0.4179	10	0.87932	D	0	-33.2763	13.2685	0.60148	0.0:0.0:0.0:1.0	.	200;214	F5H1S0;O75326	.;SEM7A_HUMAN	P	214;200;49	ENSP00000261918:T214P;ENSP00000438966:T200P;ENSP00000441493:T49P	ENSP00000261918:T214P	T	-	1	0	SEMA7A	72496750	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.951000	0.49089	1.962000	0.57031	0.459000	0.35465	ACC		0.587	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		17	77	0	0	0	0.007413	0	17	77				
SEMA7A	8482	broad.mit.edu	37	15	74709982	74709982	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:74709982C>A	ENST00000261918.4	-	5	1048	c.500G>T	c.(499-501)aGa>aTa	p.R167I	SEMA7A_ENST00000542748.1_Missense_Mutation_p.R2I|SEMA7A_ENST00000543145.2_Missense_Mutation_p.R153I	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	167	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R167I(1)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GGCGTAGCCTCTCATCTCGCC	0.617																																							uc002axv.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(499-501)AGA>ATA		semaphorin 7A isoform 1 preproprotein							47.0	45.0	46.0					15																	74709982		2197	4296	6493	SO:0001583	missense	8482				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity	g.chr15:74709982C>A	AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"""Semaphorins"", ""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10741	protein-coding gene	gene with protein product	"""John Milton Hagen blood group"", ""H-Sema K1"""	607961	"""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A"", ""sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"""	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.500G>T	15.37:g.74709982C>A	ENSP00000261918:p.Arg167Ile					SEMA7A_uc010ulk.1_Missense_Mutation_p.R2I|SEMA7A_uc010ull.1_Missense_Mutation_p.R153I	p.R167I	NM_003612	NP_003603	O75326	SEM7A_HUMAN			5	540	-			167			Sema.		B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Missense_Mutation	SNP	ENST00000261918.4	37	c.500G>T	CCDS10262.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619270	0.46736	.	.	ENSG00000138623	ENST00000261918;ENST00000543145;ENST00000542748	T;T;T	0.22539	2.86;2.86;1.95	4.6	1.63	0.23807	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.345645	0.27773	N	0.017915	T	0.17746	0.0426	L	0.52759	1.655	0.36386	D	0.862224	B;B	0.19817	0.039;0.023	B;B	0.20577	0.03;0.017	T	0.07947	-1.0746	10	0.87932	D	0	-1.1902	6.4958	0.22142	0.0:0.58:0.0:0.42	.	153;167	F5H1S0;O75326	.;SEM7A_HUMAN	I	167;153;2	ENSP00000261918:R167I;ENSP00000438966:R153I;ENSP00000441493:R2I	ENSP00000261918:R167I	R	-	2	0	SEMA7A	72497035	0.033000	0.19621	0.986000	0.45419	0.953000	0.61014	0.638000	0.24674	0.171000	0.19730	0.491000	0.48974	AGA		0.617	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272904.3	NM_003612		7	26	1	0	1.12685e-05	0.004482	1.47621e-05	7	26				
GOLGA6D	653643	broad.mit.edu	37	15	75586718	75586718	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:75586718G>A	ENST00000434739.3	+	18	2025	c.1984G>A	c.(1984-1986)Gtg>Atg	p.V662M	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	662						Golgi apparatus (GO:0005794)		p.V662M(1)		kidney(1)|lung(1)	2						GGACAACAACGTGGAGCCTGC	0.612																																							uc010uma.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1984-1986)GTG>ATG		golgi autoantigen, golgin subfamily a, 6D							28.0	36.0	34.0					15																	75586718		644	1582	2226	SO:0001583	missense	653643							g.chr15:75586718G>A		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6D"""				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.1984G>A	15.37:g.75586718G>A	ENSP00000391085:p.Val662Met					uc010umd.1_5'Flank	p.V662M	NM_001145224	NP_001138696	P0CG33	GOG6D_HUMAN			18	2019	+			662						Missense_Mutation	SNP	ENST00000434739.3	37	c.1984G>A	CCDS45308.1	.	.	.	.	.	.	.	.	.	.	G	3.567	-0.088397	0.07097	.	.	ENSG00000140478	ENST00000434739	T	0.27557	1.66	1.63	-0.548	0.11833	.	.	.	.	.	T	0.20007	0.0481	L	0.46670	1.46	0.09310	N	1	P	0.47191	0.891	B	0.38378	0.272	T	0.13926	-1.0491	9	0.48119	T	0.1	.	2.6412	0.04971	0.2266:0.312:0.4615:0.0	.	662	P0CG33	GOG6D_HUMAN	M	662	ENSP00000391085:V662M	ENSP00000391085:V662M	V	+	1	0	GOLGA6D	73373771	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.115000	0.15540	-0.146000	0.11274	-0.923000	0.02734	GTG		0.612	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419798.1	NM_001145224		4	39	0	0	0	0.009096	0	4	39				
UBE2Q2	92912	broad.mit.edu	37	15	76168549	76168549	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:76168549C>T	ENST00000267938.4	+	6	992	c.610C>T	c.(610-612)Caa>Taa	p.Q204*	UBE2Q2_ENST00000338677.4_Nonsense_Mutation_p.Q204*|UBE2Q2_ENST00000561851.1_Nonsense_Mutation_p.Q188*|UBE2Q2_ENST00000569423.1_Nonsense_Mutation_p.Q169*	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	204					protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.Q204*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						TGGGTCAGTGCAAGCTTCAGA	0.408																																							uc002bbg.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(610-612)CAA>TAA		ubiquitin-conjugating enzyme E2Q 2 isoform 1							180.0	189.0	186.0					15																	76168549		2197	4294	6491	SO:0001587	stop_gained	92912				protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity	g.chr15:76168549C>T	BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"""Ubiquitin-conjugating enzymes E2"""	19248	protein-coding gene	gene with protein product		612501	"""ubiquitin-conjugating enzyme E2Q (putative) 2"""			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.610C>T	15.37:g.76168549C>T	ENSP00000267938:p.Gln204*					UBE2Q2_uc002bbh.2_Nonsense_Mutation_p.Q169*|UBE2Q2_uc010umn.1_Nonsense_Mutation_p.Q188*|UBE2Q2_uc002bbi.2_Nonsense_Mutation_p.Q85*	p.Q204*	NM_173469	NP_775740	Q8WVN8	UB2Q2_HUMAN			6	996	+			204					B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Nonsense_Mutation	SNP	ENST00000267938.4	37	c.610C>T	CCDS10286.1	.	.	.	.	.	.	.	.	.	.	C	39	7.881328	0.98539	.	.	ENSG00000140367	ENST00000338677;ENST00000267938;ENST00000426727	.	.	.	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	17.6423	0.88140	0.0:1.0:0.0:0.0	.	.	.	.	X	204;204;188	.	ENSP00000267938:Q204X	Q	+	1	0	UBE2Q2	73955604	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.543000	0.82106	2.470000	0.83445	0.637000	0.83480	CAA		0.408	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286475.1	NM_173469		55	230	0	0	0	0.00361	0	55	230				
SV2B	9899	broad.mit.edu	37	15	91835638	91835638	+	Silent	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr15:91835638T>C	ENST00000394232.1	+	13	2378	c.1908T>C	c.(1906-1908)ttT>ttC	p.F636F	SV2B_ENST00000330276.4_Silent_p.F636F|SV2B_ENST00000545111.2_Silent_p.F485F	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	636					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.F636F(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TATGCAAATTTGGCGCCATCC	0.468																																							uc002bqv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1906-1908)TTT>TTC		synaptic vesicle protein 2B homolog							141.0	131.0	134.0					15																	91835638		2198	4298	6496	SO:0001819	synonymous_variant	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91835638T>C	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1908T>C	15.37:g.91835638T>C						SV2B_uc010uqv.1_Silent_p.F485F|SV2B_uc002bqu.3_RNA	p.F636F	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		12	2299	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		636			Helical; (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	c.1908T>C	CCDS10370.1																																																																																				0.468	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3	NM_014848		13	94	0	0	0	0.001855	0	13	94				
WDR24	84219	broad.mit.edu	37	16	739444	739444	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:739444C>T	ENST00000248142.6	-	3	382	c.383G>A	c.(382-384)cGt>cAt	p.R128H	WDR24_ENST00000293883.4_Missense_Mutation_p.R66H|LA16c-313D11.12_ENST00000566927.1_RNA			Q96S15	WDR24_HUMAN	WD repeat domain 24	128								p.R66H(1)|p.R128H(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GCGCCCCACACGCAGGTTCAG	0.597																																							uc002ciz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(196-198)CGT>CAT		WD repeat domain 24							84.0	77.0	79.0					16																	739444		2199	4300	6499	SO:0001583	missense	84219							g.chr16:739444C>T	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.383G>A	16.37:g.739444C>T	ENSP00000248142:p.Arg128His						p.R66H	NM_032259	NP_115635	Q96S15	WDR24_HUMAN			1	957	-		Hepatocellular(780;0.0218)	128					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.197G>A		.	.	.	.	.	.	.	.	.	.	c	32	5.124952	0.94429	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.24151	1.87;1.87	4.09	4.09	0.47781	.	0.062144	0.64402	N	0.000003	T	0.48995	0.1531	M	0.71581	2.175	0.49299	D	0.999771	D	0.89917	1.0	D	0.79108	0.992	T	0.49000	-0.8984	10	0.40728	T	0.16	-15.2788	15.4586	0.75336	0.0:1.0:0.0:0.0	.	66	Q96S15-2	.	H	128;66	ENSP00000248142:R128H;ENSP00000293883:R66H	ENSP00000248142:R128H	R	-	2	0	WDR24	679445	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.029000	0.76477	2.112000	0.64535	0.561000	0.74099	CGT		0.597	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		5	19	0	0	0	0.000602	0	5	19				
TMC5	79838	broad.mit.edu	37	16	19475097	19475097	+	Splice_Site	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:19475097G>T	ENST00000396229.2	+	8	1985		c.e8-1		TMC5_ENST00000381414.4_Splice_Site|TMC5_ENST00000541464.1_Splice_Site|TMC5_ENST00000561503.1_Splice_Site|TMC5_ENST00000219821.5_Splice_Site|TMC5_ENST00000542583.2_Splice_Site|TMC5_ENST00000564959.1_Splice_Site	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5						ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCTGATTCCAGGCTTATCGGA	0.478																																							uc002dgc.3		NA																	2	Unknown(2)		lung(2)	skin(1)	1						c.e8-1		transmembrane channel-like 5 isoform a							104.0	91.0	96.0					16																	19475097		2197	4300	6497	SO:0001630	splice_region_variant	79838					integral to membrane		g.chr16:19475097G>T	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1237-1G>T	16.37:g.19475097G>T						TMC5_uc010vaq.1_Splice_Site_p.A413_splice|TMC5_uc002dgb.3_Splice_Site_p.A413_splice|TMC5_uc010var.1_Splice_Site_p.A413_splice|TMC5_uc002dgd.1_Splice_Site_p.A167_splice|TMC5_uc002dge.3_Splice_Site_p.A167_splice|TMC5_uc002dgf.3_Splice_Site_p.A96_splice|TMC5_uc002dgg.3_Splice_Site_p.A54_splice	p.A413_splice	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN			8	1986	+								Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Splice_Site	SNP	ENST00000396229.2	37	c.1237_splice	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	14.45	2.538968	0.45176	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7994	0.96500	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMC5	19382598	1.000000	0.71417	0.657000	0.29651	0.244000	0.25665	8.087000	0.89521	2.686000	0.91538	0.650000	0.86243	.		0.478	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780	Intron	10	95	1	0	3.07112e-06	0.000978	4.13441e-06	10	95				
PDILT	204474	broad.mit.edu	37	16	20380924	20380924	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:20380924C>A	ENST00000302451.4	-	8	1254	c.1006G>T	c.(1006-1008)Gtc>Ttc	p.V336F		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	336					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.V336F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGGATTTGGACGGATGGGATA	0.468																																							uc002dhc.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1006-1008)GTC>TTC		protein disulfide isomerase-like, testis							193.0	187.0	189.0					16																	20380924		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20380924C>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1006G>T	16.37:g.20380924C>A	ENSP00000305465:p.Val336Phe						p.V336F	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			8	1229	-			336					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.1006G>T	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904164	0.33628	.	.	ENSG00000169340	ENST00000302451	T	0.34667	1.35	4.9	2.91	0.33838	Thioredoxin-like fold (1);	0.185673	0.47852	N	0.000210	T	0.51126	0.1656	M	0.74258	2.255	0.41728	D	0.989544	D	0.64830	0.994	D	0.64410	0.925	T	0.46442	-0.9191	10	0.29301	T	0.29	.	7.6119	0.28135	0.1637:0.7484:0.0:0.0879	.	336	Q8N807	PDILT_HUMAN	F	336	ENSP00000305465:V336F	ENSP00000305465:V336F	V	-	1	0	PDILT	20288425	0.990000	0.36364	0.320000	0.25306	0.027000	0.11550	2.973000	0.49264	0.630000	0.30394	0.563000	0.77884	GTC		0.468	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		19	140	1	0	2.4624e-09	0.008871	3.69612e-09	19	140				
ACSM2B	348158	broad.mit.edu	37	16	20554527	20554527	+	Missense_Mutation	SNP	G	G	A	rs373308064		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:20554527G>A	ENST00000329697.6	-	11	1507	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W	ACSM2B_ENST00000565232.1_Missense_Mutation_p.R447W|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R447W|ACSM2B_ENST00000565322.1_Missense_Mutation_p.R368W|ACSM2B_ENST00000567288.1_5'Flank	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	447					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.R447W(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTGATTCCCCGGTCTCCAAGG	0.498													g|||	1	0.000199681	0.0008	0.0	5008	,	,		24627	0.0		0.0	False		,,,				2504	0.0						uc002dhj.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1339-1341)CGG>TGG		acyl-CoA synthetase medium-chain family member		G	TRP/ARG,TRP/ARG	2,4398	4.2+/-10.8	0,2,2198	169.0	195.0	186.0		1339,1339	3.1	1.0	16		186	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	ACSM2B	NM_001105069.1,NM_182617.3	101,101	0,3,6493	AA,AG,GG		0.0116,0.0455,0.0231	probably-damaging,probably-damaging	447/578,447/578	20554527	3,12989	2200	4296	6496	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20554527G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1339C>T	16.37:g.20554527G>A	ENSP00000327453:p.Arg447Trp					ACSM2B_uc002dhk.3_Missense_Mutation_p.R447W|ACSM2B_uc010bwf.1_Missense_Mutation_p.R447W	p.R447W	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			12	1549	-			447					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1339C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.922026	0.33908	4.55E-4	1.16E-4	ENSG00000066813	ENST00000329697	T	0.41758	0.99	3.13	3.13	0.36017	AMP-dependent synthetase/ligase (1);	0.765819	0.10625	N	0.652879	T	0.63034	0.2477	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.62501	-0.6841	10	0.72032	D	0.01	-4.7587	8.5246	0.33298	0.0:0.0:0.587:0.4129	.	447;447	A8K051;Q68CK6	.;ACS2B_HUMAN	W	447	ENSP00000327453:R447W	ENSP00000327453:R447W	R	-	1	2	ACSM2B	20462028	0.053000	0.20554	0.995000	0.50966	0.092000	0.18411	-0.035000	0.12205	1.748000	0.51833	0.514000	0.50259	CGG		0.498	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		27	169	0	0	0	0.005443	0	27	169				
ACSM2B	348158	broad.mit.edu	37	16	20566759	20566759	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:20566759G>T	ENST00000329697.6	-	4	596	c.428C>A	c.(427-429)aCt>aAt	p.T143N	ACSM2B_ENST00000565232.1_Missense_Mutation_p.T143N|ACSM2B_ENST00000567001.1_Missense_Mutation_p.T143N|ACSM2B_ENST00000565322.1_Missense_Mutation_p.T64N|ACSM2B_ENST00000414188.2_Missense_Mutation_p.T143N|ACSM2B_ENST00000567288.1_5'Flank	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	143				T -> A (in Ref. 1; AAO17576). {ECO:0000305}.	fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.T143N(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CAGTATGTCAGTGGATTTCAT	0.438																																							uc002dhj.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(427-429)ACT>AAT		acyl-CoA synthetase medium-chain family member							61.0	58.0	59.0					16																	20566759		2199	4280	6479	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20566759G>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.428C>A	16.37:g.20566759G>T	ENSP00000327453:p.Thr143Asn					ACSM2B_uc002dhk.3_Missense_Mutation_p.T143N|ACSM2B_uc010bwf.1_Missense_Mutation_p.T143N	p.T143N	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			5	638	-			143	T -> A (in Ref. 1; AAO17576).				Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.428C>A	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	0.626	-0.819084	0.02776	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.40756	1.02;1.02	2.92	-5.83	0.02325	AMP-dependent synthetase/ligase (1);	1.869910	0.03717	N	0.251205	T	0.28928	0.0718	N	0.25485	0.75	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.23419	0.046;0.046	T	0.32241	-0.9914	10	0.72032	D	0.01	-0.0145	6.0154	0.19601	0.0:0.2701:0.3863:0.3436	.	143;143	A8K051;Q68CK6	.;ACS2B_HUMAN	N	143	ENSP00000327453:T143N;ENSP00000390378:T143N	ENSP00000327453:T143N	T	-	2	0	ACSM2B	20474260	0.117000	0.22190	0.000000	0.03702	0.000000	0.00434	0.596000	0.24044	-2.313000	0.00648	-2.459000	0.00205	ACT		0.438	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		7	79	1	0	6.40141e-05	0.000978	8.01272e-05	7	79				
ERN2	10595	broad.mit.edu	37	16	23718184	23718184	+	Splice_Site	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:23718184T>A	ENST00000457008.2	-	6	418		c.e6-2		ERN2_ENST00000256797.4_Splice_Site					endoplasmic reticulum to nucleus signaling 2									p.?(1)		large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GCTTCCGGCCTGTGGAGGTGG	0.587																																							uc002dma.3		NA																	1	Unknown(1)		lung(1)	large_intestine(2)|lung(2)|ovary(2)	6						c.e6-1		endoplasmic reticulum to nucleus signalling 2																																				SO:0001630	splice_region_variant	10595				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity	g.chr16:23718184T>A	AA527544	CCDS32407.1	16p12.2	2008-02-05	2007-08-14			ENSG00000134398			16942	protein-coding gene	gene with protein product		604034	"""ER to nucleus signalling 2"""			9755171, 11175748	Standard	NM_033266		Approved	IRE1b	uc002dma.4	Q76MJ5		ENST00000457008.2:c.380-2A>T	16.37:g.23718184T>A						ERN2_uc010bxp.2_Splice_Site_p.G175_splice|ERN2_uc010bxq.1_Splice_Site	p.G175_splice	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	6	693	-									Splice_Site	SNP	ENST00000457008.2	37	c.524_splice		.	.	.	.	.	.	.	.	.	.	T	18.01	3.527371	0.64860	.	.	ENSG00000134398	ENST00000256797;ENST00000457008	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9722	0.64247	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ERN2	23625685	1.000000	0.71417	0.978000	0.43139	0.881000	0.50899	7.093000	0.76937	2.190000	0.69967	0.455000	0.32223	.		0.587	ERN2-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000434886.1		Intron	6	23	0	0	0	0.001168	0	6	23				
SEZ6L2	26470	broad.mit.edu	37	16	29907150	29907150	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:29907150T>A	ENST00000308713.5	-	4	1070	c.543A>T	c.(541-543)gaA>gaT	p.E181D	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.E137D|SEZ6L2_ENST00000562159.1_Intron|SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E111D	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	181	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.E111D(1)|p.E181D(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCACATACCCTTCGCCCTCGG	0.562																																							uc002duq.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(541-543)GAA>GAT		seizure related 6 homolog (mouse)-like 2 isoform							79.0	79.0	79.0					16																	29907150		2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29907150T>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.543A>T	16.37:g.29907150T>A	ENSP00000312550:p.Glu181Asp					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.E111D|SEZ6L2_uc002dur.3_Missense_Mutation_p.E111D|SEZ6L2_uc002dus.3_Intron|SEZ6L2_uc010vec.1_Missense_Mutation_p.E181D|SEZ6L2_uc010ved.1_Missense_Mutation_p.E137D	p.E181D	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			4	783	-			181			CUB 1.|Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.543A>T	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	T	17.75	3.465859	0.63513	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000537485	T;T;T	0.18016	2.24;2.24;2.24	5.69	2.29	0.28610	CUB (5);	0.225948	0.30800	N	0.008855	T	0.25158	0.0611	M	0.66297	2.02	0.34957	D	0.751779	P;B;B;B;B	0.36330	0.548;0.316;0.193;0.316;0.193	P;B;B;B;B	0.45946	0.498;0.139;0.131;0.139;0.08	T	0.28138	-1.0053	10	0.72032	D	0.01	.	7.8286	0.29330	0.0:0.3147:0.0:0.6853	.	137;181;111;181;111	F5H293;B7Z5L4;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;SE6L2_HUMAN;.	D	111;181;137	ENSP00000310206:E111D;ENSP00000312550:E181D;ENSP00000439412:E137D	ENSP00000312550:E181D	E	-	3	2	SEZ6L2	29814651	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.573000	0.36472	0.452000	0.26830	0.459000	0.35465	GAA		0.562	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410		11	68	0	0	0	0.001368	0	11	68				
TRIM72	493829	broad.mit.edu	37	16	31234185	31234185	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:31234185C>A	ENST00000322122.3	+	6	1062	c.778C>A	c.(778-780)Cgt>Agt	p.R260S		NM_001008274.3	NP_001008275.2			tripartite motif containing 72, E3 ubiquitin protein ligase									p.R260C(2)|p.R260S(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						CCCACCCGCCCGTCTGGACAT	0.617																																							uc002ebn.1		NA																	4	Substitution - Missense(4)		lung(2)|endometrium(2)		0						c.(778-780)CGT>AGT		tripartite motif-containing 72							57.0	58.0	58.0					16																	31234185		2197	4300	6497	SO:0001583	missense	493829				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding	g.chr16:31234185C>A	AK090695	CCDS32437.1	16p11.2	2014-02-10	2014-02-10					"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32671	protein-coding gene	gene with protein product	"""mitsugumin 53"""	613288	"""tripartite motif-containing 72"", ""tripartite motif containing 72"""			20399744, 23354051	Standard	NM_001008274		Approved	MG53	uc002ebn.2	Q6ZMU5		ENST00000322122.3:c.778C>A	16.37:g.31234185C>A	ENSP00000312675:p.Arg260Ser						p.R260S	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN			6	1007	+			260						Missense_Mutation	SNP	ENST00000322122.3	37	c.778C>A	CCDS32437.1	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505880	0.26949	.	.	ENSG00000177238	ENST00000322122	T	0.61980	0.06	5.25	3.01	0.34805	.	0.081603	0.46758	D	0.000269	T	0.50086	0.1595	L	0.59436	1.845	0.40062	D	0.9759	P	0.40909	0.732	B	0.35073	0.195	T	0.56195	-0.8019	10	0.02654	T	1	.	14.2927	0.66289	0.288:0.712:0.0:0.0	.	260	Q6ZMU5	TRI72_HUMAN	S	260	ENSP00000312675:R260S	ENSP00000312675:R260S	R	+	1	0	TRIM72	31141686	1.000000	0.71417	0.953000	0.39169	0.615000	0.37417	1.870000	0.39529	1.142000	0.42291	0.561000	0.74099	CGT		0.617	TRIM72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433567.1	NM_001008274		8	92	1	0	4.36969e-10	0.001855	6.7106e-10	8	92				
ZNF267	10308	broad.mit.edu	37	16	31927756	31927756	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:31927756C>T	ENST00000300870.10	+	4	2395	c.2186C>T	c.(2185-2187)tCa>tTa	p.S729L		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	729					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S729L(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AACTCTAGGTCATACCTCATT	0.388																																							uc002ecs.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(2185-2187)TCA>TTA		zinc finger protein 267							68.0	70.0	70.0					16																	31927756		2197	4300	6497	SO:0001583	missense	10308				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:31927756C>T	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.2186C>T	16.37:g.31927756C>T	ENSP00000300870:p.Ser729Leu						p.S729L	NM_003414	NP_003405	Q14586	ZN267_HUMAN			4	2395	+			729			C2H2-type 15.		A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	ENST00000300870.10	37	c.2186C>T	CCDS32440.1	.	.	.	.	.	.	.	.	.	.	.	11.79	1.742601	0.30865	.	.	ENSG00000185947	ENST00000300870	T	0.31769	1.48	0.468	0.468	0.16732	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31167	0.0788	M	0.86740	2.835	0.09310	N	1	P	0.47604	0.898	B	0.34385	0.181	T	0.34354	-0.9832	9	0.66056	D	0.02	.	6.7127	0.23286	0.0:0.9999:0.0:1.0E-4	.	729	Q14586	ZN267_HUMAN	L	729	ENSP00000300870:S729L	ENSP00000300870:S729L	S	+	2	0	ZNF267	31835257	0.000000	0.05858	0.183000	0.23137	0.170000	0.22686	-0.185000	0.09684	0.488000	0.27723	0.491000	0.48974	TCA		0.388	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414		13	89	0	0	0	0.003163	0	13	89				
C16orf78	123970	broad.mit.edu	37	16	49433159	49433159	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:49433159G>T	ENST00000299191.3	+	5	885	c.768G>T	c.(766-768)gtG>gtT	p.V256V		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	256						nucleus (GO:0005634)		p.V256V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						CTAAAAAGGTGTTCACCGGAA	0.517																																							uc002efr.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(766-768)GTG>GTT		hypothetical protein LOC123970							144.0	119.0	127.0					16																	49433159		2199	4300	6499	SO:0001819	synonymous_variant	123970							g.chr16:49433159G>T	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.768G>T	16.37:g.49433159G>T							p.V256V	NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN			5	811	+			256						Silent	SNP	ENST00000299191.3	37	c.768G>T	CCDS10738.1																																																																																				0.517	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		8	37	1	0	5.18039e-06	0.00308	6.91034e-06	8	37				
SLC6A2	6530	broad.mit.edu	37	16	55730144	55730144	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:55730144C>A	ENST00000379906.2	+	8	1410	c.1155C>A	c.(1153-1155)ggC>ggA	p.G385G	SLC6A2_ENST00000566163.1_Silent_p.G340G|SLC6A2_ENST00000567238.1_Silent_p.G280G|SLC6A2_ENST00000568943.1_Silent_p.G385G|SLC6A2_ENST00000414754.3_Silent_p.G385G|SLC6A2_ENST00000561820.1_Silent_p.G385G|SLC6A2_ENST00000219833.8_Silent_p.G385G	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	385					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)	p.G385G(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CAGGAGCTGGCCTAGTGTTCA	0.512																																							uc002eif.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(4)|ovary(2)|pancreas(2)	8						c.(1153-1155)GGC>GGA		solute carrier family 6 member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						218.0	184.0	195.0					16																	55730144		2198	4300	6498	SO:0001819	synonymous_variant	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55730144C>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1155C>A	16.37:g.55730144C>A						SLC6A2_uc010ccd.2_Silent_p.G385G|SLC6A2_uc002eig.2_Silent_p.G385G|SLC6A2_uc002eih.2_Silent_p.G385G|SLC6A2_uc002eii.2_Silent_p.G280G|SLC6A2_uc002eij.2_Silent_p.G99G	p.G385G	NM_001043	NP_001034	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	9	1266	+			385					B2R707|B4DX48|Q96KH8	Silent	SNP	ENST00000379906.2	37	c.1155C>A	CCDS10754.1																																																																																				0.512	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			13	89	1	0	7.03913e-09	0.001368	1.03118e-08	13	89				
CES1	1066	broad.mit.edu	37	16	55844547	55844547	+	Silent	SNP	G	G	T	rs145477234		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:55844547G>T	ENST00000361503.4	-	11	1327	c.1197C>A	c.(1195-1197)gcC>gcA	p.A399A	CES1_ENST00000360526.3_Silent_p.A400A|CES1_ENST00000422046.2_Silent_p.A398A			P23141	EST1_HUMAN	carboxylesterase 1	399					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)	p.A400A(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	ATTTCTCAGTGGCTTCTGGAA	0.478																																					NSCLC(162;1801 2756 42904 52896)	NSCLC(162;1801 2756 42904 52896)	uc002eim.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1195-1197)GCC>GCA		carboxylesterase 1 isoform b precursor	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						158.0	168.0	165.0					16																	55844547		2198	4300	6498	SO:0001819	synonymous_variant	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55844547G>T	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.1197C>A	16.37:g.55844547G>T						CES1_uc010ccf.2_Silent_p.A74A|CES1_uc002eil.2_Silent_p.A400A|CES1_uc002ein.2_Silent_p.A398A	p.A399A	NM_001025194	NP_001020365	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	11	1305	-			399					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Silent	SNP	ENST00000361503.4	37	c.1197C>A	CCDS45488.1																																																																																				0.478	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		18	158	1	0	2.94398e-08	0.007413	4.21971e-08	18	158				
CPNE2	221184	broad.mit.edu	37	16	57144694	57144694	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:57144694G>T	ENST00000535318.2	+	3	401	c.40G>T	c.(40-42)Gca>Tca	p.A14S	CPNE2_ENST00000537605.1_5'UTR|CPNE2_ENST00000565874.1_Missense_Mutation_p.A14S|CPNE2_ENST00000290776.8_Missense_Mutation_p.A14S			Q96FN4	CPNE2_HUMAN	copine II	14	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)		p.A14S(1)		central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				AGCAGCGGGGGCAGCCCCCAT	0.642																																							uc002eks.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(40-42)GCA>TCA		copine II							35.0	32.0	33.0					16																	57144694		2198	4299	6497	SO:0001583	missense	221184							g.chr16:57144694G>T		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.40G>T	16.37:g.57144694G>T	ENSP00000439018:p.Ala14Ser					CPNE2_uc010cct.1_Missense_Mutation_p.A40S|CPNE2_uc010ccu.1_Missense_Mutation_p.A14S	p.A14S	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN			2	269	+		all_neural(199;0.224)	14			C2 1.		Q68D19|Q719H8|Q86XP9	Missense_Mutation	SNP	ENST00000535318.2	37	c.40G>T	CCDS10774.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060463	0.55432	.	.	ENSG00000140848	ENST00000290776;ENST00000535318	T;T	0.05025	3.51;3.51	4.22	4.22	0.49857	C2 calcium/lipid-binding domain, CaLB (1);	0.211548	0.39615	N	0.001319	T	0.04724	0.0128	N	0.22421	0.69	0.80722	D	1	B;B	0.24258	0.1;0.041	B;B	0.24541	0.054;0.037	T	0.45556	-0.9253	10	0.15499	T	0.54	-13.6712	11.8282	0.52280	0.0:0.324:0.676:0.0	.	14;14	A8K8A4;Q96FN4	.;CPNE2_HUMAN	S	14	ENSP00000290776:A14S;ENSP00000439018:A14S	ENSP00000290776:A14S	A	+	1	0	CPNE2	55702195	0.979000	0.34478	0.868000	0.34077	0.297000	0.27493	2.142000	0.42177	2.655000	0.90218	0.650000	0.86243	GCA		0.642	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		8	64	1	0	5.18039e-06	0.00308	6.91034e-06	8	64				
CDH11	1009	broad.mit.edu	37	16	65016031	65016031	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:65016031T>A	ENST00000268603.4	-	8	1788	c.1173A>T	c.(1171-1173)gaA>gaT	p.E391D	CDH11_ENST00000566827.1_Missense_Mutation_p.E265D|CDH11_ENST00000394156.3_Missense_Mutation_p.E391D	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	391	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)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E391D(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTTCTTGGACTTCGTGGATGT	0.498			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																													uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	lung(10)|ovary(3)|skin(1)	14						c.(1171-1173)GAA>GAT		cadherin 11, type 2 preproprotein							146.0	127.0	133.0					16																	65016031		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65016031T>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1173A>T	16.37:g.65016031T>A	ENSP00000268603:p.Glu391Asp	TSP Lung(24;0.17)				CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.E391D|CDH11_uc010vin.1_Missense_Mutation_p.E265D|CDH11_uc002eok.1_RNA	p.E391D	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	8	1607	-		Ovarian(137;0.0973)	391			Cadherin 4.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1173A>T	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.392875	0.83011	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.01745	4.66;4.66	5.76	5.76	0.90799	Cadherin (3);Cadherin-like (1);	0.044361	0.85682	D	0.000000	T	0.04092	0.0114	L	0.55481	1.735	0.53688	D	0.999975	D;B	0.53619	0.961;0.011	P;B	0.46339	0.513;0.023	T	0.46289	-0.9202	10	0.56958	D	0.05	.	15.544	0.76081	0.0:0.0:0.0:1.0	.	391;391	P55287-2;P55287	.;CAD11_HUMAN	D	391;391;374	ENSP00000268603:E391D;ENSP00000377711:E391D	ENSP00000268603:E391D	E	-	3	2	CDH11	63573532	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	3.253000	0.51469	2.324000	0.78689	0.533000	0.62120	GAA		0.498	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		23	86	0	0	0	0.00333	0	23	86				
CDH5	1003	broad.mit.edu	37	16	66429973	66429973	+	Missense_Mutation	SNP	G	G	A	rs139755397	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:66429973G>A	ENST00000341529.3	+	8	1377	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	410	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)	p.R410H(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	TACTCCATCCGCAGGACCAGT	0.498													G|||	4	0.000798722	0.0	0.0	5008	,	,		20463	0.004		0.0	False		,,,				2504	0.0						uc002eom.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1228-1230)CGC>CAC		cadherin 5, type 2 preproprotein		G	HIS/ARG	0,4402		0,0,2201	83.0	77.0	79.0		1229	5.0	1.0	16	dbSNP_134	79	7,8593	5.7+/-21.5	0,7,4293	yes	missense	CDH5	NM_001795.3	29	0,7,6494	AA,AG,GG		0.0814,0.0,0.0538	probably-damaging	410/785	66429973	7,12995	2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66429973G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1229G>A	16.37:g.66429973G>A	ENSP00000344115:p.Arg410His						p.R410H	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	8	1385	+		Ovarian(137;0.0955)	410			Cadherin 4.|Extracellular (Potential).		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1229G>A	CCDS10804.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	17.78	3.472751	0.63737	0.0	8.14E-4	ENSG00000179776	ENST00000341529;ENST00000539262	T	0.51817	0.69	4.96	4.96	0.65561	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.54549	0.1865	L	0.55834	1.745	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	T	0.62220	-0.6900	9	0.72032	D	0.01	.	15.0665	0.71999	0.0:0.0:1.0:0.0	.	410	P33151	CADH5_HUMAN	H	410;151	ENSP00000344115:R410H	ENSP00000344115:R410H	R	+	2	0	CDH5	64987474	0.980000	0.34600	1.000000	0.80357	0.977000	0.68977	2.087000	0.41653	2.590000	0.87494	0.561000	0.74099	CGC		0.498	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		6	46	0	0	0	0.00308	0	6	46				
TMED6	146456	broad.mit.edu	37	16	69377433	69377433	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:69377433G>A	ENST00000288025.3	-	4	655	c.600C>T	c.(598-600)taC>taT	p.Y200Y	RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	200					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.Y200Y(1)		breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						ACCAGTTCACGTAGTTATAGT	0.418																																							uc002exc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(598-600)TAC>TAT		transmembrane emp24 protein transport domain							139.0	136.0	137.0					16																	69377433		2198	4300	6498	SO:0001819	synonymous_variant	146456				transport	endoplasmic reticulum membrane|integral to membrane		g.chr16:69377433G>A	BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.600C>T	16.37:g.69377433G>A							p.Y200Y	NM_144676	NP_653277	Q8WW62	TMED6_HUMAN			4	633	-			200			Lumenal (Potential).		Q6UXN5	Silent	SNP	ENST00000288025.3	37	c.600C>T	CCDS10878.1																																																																																				0.418	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268951.1	NM_144676		22	98	0	0	0	0.00333	0	22	98				
CDH13	1012	broad.mit.edu	37	16	83711897	83711897	+	Missense_Mutation	SNP	G	G	T	rs372445890		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr16:83711897G>T	ENST00000566620.1	+	10	1659	c.1369G>T	c.(1369-1371)Ggc>Tgc	p.G457C	CDH13_ENST00000268613.10_Missense_Mutation_p.G504C|CDH13_ENST00000428848.3_Missense_Mutation_p.G418C	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	457	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)	p.G457C(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CGTCTCCTACGGCCCCAGCTC	0.557																																							uc002fgx.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1369-1371)GGC>TGC		cadherin 13 preproprotein							82.0	89.0	87.0					16																	83711897		2085	4208	6293	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83711897G>T	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1369G>T	16.37:g.83711897G>T	ENSP00000454435:p.Gly457Cys					CDH13_uc010vns.1_Missense_Mutation_p.G504C|CDH13_uc010vnt.1_Missense_Mutation_p.G203C|CDH13_uc010vnu.1_Missense_Mutation_p.G418C	p.G457C	NM_001257	NP_001248	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	10	1489	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	457			Cadherin 3.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.1369G>T	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137259	0.77775	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000540531	T	0.54866	0.55	4.81	4.81	0.61882	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73442	0.3587	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.979;0.979;1.0	T	0.77413	-0.2597	9	0.62326	D	0.03	.	16.88	0.86060	0.0:0.0:1.0:0.0	.	418;504;457	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	C	504;457;418;159;147	ENSP00000268613:G504C	ENSP00000268613:G504C	G	+	1	0	CDH13	82269398	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	9.076000	0.94009	2.229000	0.72834	0.591000	0.81541	GGC		0.557	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		8	32	1	0	1.06961e-07	0.00308	1.49787e-07	8	32				
SPNS3	201305	broad.mit.edu	37	17	4349456	4349456	+	Silent	SNP	C	C	T	rs146044768		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:4349456C>T	ENST00000355530.2	+	4	796	c.516C>T	c.(514-516)cgC>cgT	p.R172R	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Silent_p.R45R	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	172					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.R172R(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						AGCGCACCCGCGTGCTGGCTG	0.617																																							uc002fxt.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(514-516)CGC>CGT		spinster homolog 3		C		1,4405	2.1+/-5.4	0,1,2202	89.0	78.0	82.0		516	-9.4	0.0	17	dbSNP_134	82	0,8600		0,0,4300	no	coding-synonymous	SPNS3	NM_182538.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		172/513	4349456	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	201305				lipid transport|transmembrane transport	integral to membrane		g.chr17:4349456C>T		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.516C>T	17.37:g.4349456C>T						SPNS3_uc002fxu.2_Silent_p.R45R	p.R172R	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN			4	560	+			172					Q8IZ31	Silent	SNP	ENST00000355530.2	37	c.516C>T	CCDS11045.1																																																																																				0.617	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		8	51	0	0	0	0.008291	0	8	51				
CLDN7	1366	broad.mit.edu	37	17	7164150	7164150	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:7164150G>A	ENST00000360325.7	-	2	812	c.378C>T	c.(376-378)ttC>ttT	p.F126F	CLDN7_ENST00000397317.4_Silent_p.F126F|RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000573745.1_5'Flank|CLDN7_ENST00000538261.3_Silent_p.F126F|CLDN7_ENST00000571881.2_Missense_Mutation_p.H118Y	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	126					calcium-independent cell-cell adhesion (GO:0016338)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.F126F(1)		kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						CTGCCACGATGAAAATTATGC	0.577																																							uc002gfm.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(376-378)TTC>TTT		claudin 7							126.0	111.0	116.0					17																	7164150		2203	4300	6503	SO:0001819	synonymous_variant	1366				calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity	g.chr17:7164150G>A	AJ011497	CCDS11096.1, CCDS54081.1	17p13.1	2013-09-20			ENSG00000181885	ENSG00000181885		"""Claudins"""	2049	protein-coding gene	gene with protein product		609131		CEPTRL2, CPETRL2		9892664	Standard	NM_001307		Approved	Hs.84359	uc002gfm.4	O95471	OTTHUMG00000178005	ENST00000360325.7:c.378C>T	17.37:g.7164150G>A						CLDN7_uc010cmc.2_Silent_p.F126F|CLDN7_uc002gfn.3_Silent_p.F126F	p.F126F	NM_001307	NP_001298	O95471	CLD7_HUMAN			2	811	-			126			Helical; (Potential).		B2R9X7|D3DTP0|Q6IPN3|Q7Z4Y7|Q9BVN0	Silent	SNP	ENST00000360325.7	37	c.378C>T	CCDS11096.1																																																																																				0.577	CLDN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440204.2	NM_001307		11	60	0	0	0	0.00245	0	11	60				
SPEM1	374768	broad.mit.edu	37	17	7324723	7324723	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:7324723G>T	ENST00000323675.3	+	3	754	c.729G>T	c.(727-729)ctG>ctT	p.L243L	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	243					sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.L243L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CTCCCACCCTGGGCCCAGCAG	0.662																																							uc002ggv.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(727-729)CTG>CTT		spermatid maturation 1							26.0	29.0	28.0					17																	7324723		1989	4131	6120	SO:0001819	synonymous_variant	374768				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane		g.chr17:7324723G>T	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"""chromosome 17 open reading frame 83"""	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.729G>T	17.37:g.7324723G>T						FGF11_uc010vtw.1_Intron	p.L243L	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN			3	754	+		Prostate(122;0.173)	243						Silent	SNP	ENST00000323675.3	37	c.729G>T	CCDS42254.1																																																																																				0.662	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440932.1	NM_199339		11	27	1	0	6.40141e-05	0.000978	8.01272e-05	11	27				
TP53	7157	broad.mit.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:7578290C>A	ENST00000269305.4	-	6	749		c.e6-1		TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	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						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.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	GGGGCCAGACCTAAGAGCAAT	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		54	Unknown(40)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	p.?(24)|p.0?(7)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(1)	upper_aerodigestive_tract(11)|lung(9)|large_intestine(6)|central_nervous_system(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|oesophagus(2)|breast(2)|stomach(1)|genital_tract(1)|eye(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	CD043957|CS011574|CS083991	TP53	D|S		c.e6-1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							82.0	74.0	76.0					17																	7578290		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7578290C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.560-1G>T	17.37:g.7578290C>A		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_Splice_Site_p.G187_splice|TP53_uc002gih.2_Splice_Site_p.G187_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.G55_splice|TP53_uc010cng.1_Splice_Site_p.G55_splice|TP53_uc002gii.1_Splice_Site_p.G55_splice|TP53_uc010cnh.1_Splice_Site_p.G187_splice|TP53_uc010cni.1_Splice_Site_p.G187_splice|TP53_uc002gij.2_Splice_Site_p.G187_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.G94_splice|TP53_uc002gio.2_Splice_Site_p.G55_splice|TP53_uc010vug.1_Intron	p.G187_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	754	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37	c.560_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	8.861	0.946887	0.18356	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.89	0.79291	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519015	1.000000	0.71417	0.995000	0.50966	0.031000	0.12232	3.449000	0.52950	2.539000	0.85634	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	8	23	1	0	1.12685e-05	0.004482	1.47621e-05	8	23				
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	A	rs587782144		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:7578457C>A	ENST00000269305.4	-	5	662	c.473G>T	c.(472-474)cGc>cTc	p.R158L	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R158L|TP53_ENST00000359597.4_Missense_Mutation_p.R158L|TP53_ENST00000413465.2_Missense_Mutation_p.R158L|TP53_ENST00000455263.2_Missense_Mutation_p.R158L|TP53_ENST00000420246.2_Missense_Mutation_p.R158L	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	158	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 -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (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).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)	GGCCATGGCGCGGACGCGGGT	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM994513	TP53	M		c.(472-474)CGC>CTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	51.0	50.0					17																	7578457		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.chr17:7578457C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.473G>T	17.37:g.7578457C>A	ENSP00000269305:p.Arg158Leu	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.R158L|TP53_uc002gih.2_Missense_Mutation_p.R158L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26L|TP53_uc010cng.1_Missense_Mutation_p.R26L|TP53_uc002gii.1_Missense_Mutation_p.R26L|TP53_uc010cnh.1_Missense_Mutation_p.R158L|TP53_uc010cni.1_Missense_Mutation_p.R158L|TP53_uc002gij.2_Missense_Mutation_p.R158L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65L|TP53_uc002gio.2_Missense_Mutation_p.R26L|TP53_uc010vug.1_Missense_Mutation_p.R119L	p.R158L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	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.473G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538284	0.65085	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99869	0.9938	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.988;0.981;0.996;0.99;0.986;1.0	D	0.96498	0.9369	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158L;ENSP00000352610:R158L;ENSP00000269305:R158L;ENSP00000398846:R158L;ENSP00000391127:R158L;ENSP00000391478:R158L;ENSP00000425104:R26L;ENSP00000423862:R65L;ENSP00000424104:R158L	ENSP00000269305:R158L	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	48	1	0	0.00909568	0.009096	0.00987956	4	48				
DNAH2	146754	broad.mit.edu	37	17	7673701	7673701	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:7673701C>T	ENST00000572933.1	+	25	5533	c.4073C>T	c.(4072-4074)gCa>gTa	p.A1358V	DNAH2_ENST00000389173.2_Missense_Mutation_p.A1358V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1358	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.A1358V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCTGCTTCAGCAACTAAAGAG	0.527																																							uc002giu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(4072-4074)GCA>GTA		dynein heavy chain domain 3							92.0	88.0	90.0					17																	7673701		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7673701C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4073C>T	17.37:g.7673701C>T	ENSP00000458355:p.Ala1358Val						p.A1358V	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			24	4087	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1358			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.4073C>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636872	0.87760	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.78364	-1.17	5.44	5.44	0.79542	Dynein heavy chain, domain-2 (1);	0.060885	0.64402	D	0.000005	D	0.92714	0.7684	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94909	0.8063	10	0.87932	D	0	.	18.3961	0.90499	0.0:1.0:0.0:0.0	.	1358	Q9P225	DYH2_HUMAN	V	1358	ENSP00000373825:A1358V	ENSP00000353818:A1358V	A	+	2	0	DNAH2	7614426	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	4.778000	0.62368	2.696000	0.92011	0.557000	0.71058	GCA		0.527	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		7	45	0	0	0	0.001984	0	7	45				
PER1	5187	broad.mit.edu	37	17	8047130	8047130	+	Silent	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:8047130T>G	ENST00000317276.4	-	19	2763	c.2526A>C	c.(2524-2526)tcA>tcC	p.S842S	PER1_ENST00000581082.1_Silent_p.S819S|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	842					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.S842S(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGTGGTGGCGTGAGCGCTTGG	0.677			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																															uc002gkd.2		NA		Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		1	Substitution - coding silent(1)		lung(1)	lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(2524-2526)TCA>TCC	Other_conserved_DNA_damage_response_genes	period 1							43.0	52.0	49.0					17																	8047130		2203	4300	6503	SO:0001819	synonymous_variant	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8047130T>G	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2526A>C	17.37:g.8047130T>G						PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_Intron	p.S842S	NM_002616	NP_002607	O15534	PER1_HUMAN			19	2764	-			842			Nuclear localization signal (By similarity).		B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	c.2526A>C	CCDS11131.1																																																																																				0.677	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			4	56	0	0	0	0.001168	0	4	56				
MYH8	4626	broad.mit.edu	37	17	10303865	10303865	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:10303865C>A	ENST00000403437.2	-	27	3671	c.3577G>T	c.(3577-3579)Gct>Tct	p.A1193S	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1193					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.A1193S(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						CGAAGAGCAGCCACCATAGCT	0.542									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.(3577-3579)GCT>TCT		myosin, heavy chain 8, skeletal muscle,							79.0	77.0	77.0					17																	10303865		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.chr17:10303865C>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.3577G>T	17.37:g.10303865C>A	ENSP00000384330:p.Ala1193Ser					uc002gml.1_Intron	p.A1193S	NM_002472	NP_002463	P13535	MYH8_HUMAN			27	3672	-			1193			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3577G>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	7.521	0.656723	0.14580	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.78924	-1.22	5.35	5.35	0.76521	Myosin tail (1);	0.000000	0.41396	U	0.000883	T	0.66963	0.2843	L	0.28054	0.825	0.47994	D	0.999564	B	0.06786	0.001	B	0.20955	0.032	T	0.60556	-0.7240	10	0.30078	T	0.28	.	14.131	0.65253	0.1499:0.8501:0.0:0.0	.	1193	P13535	MYH8_HUMAN	S	1193	ENSP00000384330:A1193S	ENSP00000252173:A1193S	A	-	1	0	MYH8	10244590	0.997000	0.39634	0.176000	0.23000	0.005000	0.04900	3.534000	0.53568	2.785000	0.95823	0.655000	0.94253	GCT		0.542	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		14	77	1	0	1.05317e-09	0.00245	1.60056e-09	14	77				
MEIS3P1	4213	broad.mit.edu	37	17	15690727	15690727	+	lincRNA	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:15690727C>A	ENST00000582780.1	-	0	694																											CCTGGTTGTTCCAGCACCTCT	0.567																																							uc002gpc.2		NA																	0					0						c.(541-543)TTC>TTA		RecName: Full=Homeobox protein Meis3; AltName: Full=Meis1-related protein 2;																																						4213							g.chr17:15690727C>A																													17.37:g.15690727C>A							p.F181L	NR_002211						1	564	+									Missense_Mutation	SNP	ENST00000582780.1	37	c.543C>A																																																																																					0.567	CTD-3157E16.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000444653.1			12	47	1	0	7.03913e-09	0.001368	1.03118e-08	12	47				
UBBP4	23666	broad.mit.edu	37	17	21731274	21731274	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:21731274C>A	ENST00000584755.1	+	2	973	c.576C>A	c.(574-576)agC>agA	p.S192R	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.S192R(1)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CCCCGATCAGCAGAGGCTCAT	0.552																																							uc002gyy.3		NA																	1	Substitution - Missense(1)		lung(1)		NA						c.(574-576)AGC>AGA		SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA;																																				SO:0001583	missense	0							g.chr17:21731274C>A	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.576C>A	17.37:g.21731274C>A	ENSP00000463647:p.Ser192Arg						p.S192R							2	701	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.576C>A																																																																																					0.552	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			6	37	1	0	8.12818e-05	0.001984	0.000100707	6	37				
UBBP4	23666	broad.mit.edu	37	17	21731278	21731278	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:21731278G>A	ENST00000584755.1	+	2	977	c.580G>A	c.(580-582)Ggc>Agc	p.G194S	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.G194S(1)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GATCAGCAGAGGCTCATCTTT	0.547																																							uc002gyy.3		NA																	1	Substitution - Missense(1)		lung(1)		NA						c.(580-582)GGC>AGC		SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA;																																				SO:0001583	missense	0							g.chr17:21731278G>A	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.580G>A	17.37:g.21731278G>A	ENSP00000463647:p.Gly194Ser						p.G194S							2	705	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.580G>A																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			4	42	0	0	0	0.009096	0	4	42				
SUPT6H	6830	broad.mit.edu	37	17	27000440	27000440	+	Silent	SNP	C	C	T	rs375207346		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:27000440C>T	ENST00000314616.6	+	2	304	c.21C>T	c.(19-21)agC>agT	p.S7S	AC010761.13_ENST00000578819.1_RNA|SUPT6H_ENST00000347486.4_Silent_p.S7S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	7	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S7S(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TTGTGGAAAGCGAGGCTGAGG	0.468																																							uc002hby.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(19-21)AGC>AGT		suppressor of Ty 6 homolog		C		1,4405	2.1+/-5.4	0,1,2202	77.0	72.0	74.0		21	-3.0	1.0	17		74	0,8600		0,0,4300	no	coding-synonymous	SUPT6H	NM_003170.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		7/1727	27000440	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27000440C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.21C>T	17.37:g.27000440C>T						SUPT6H_uc010crt.2_Silent_p.S7S	p.S7S	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			2	111	+	Lung NSC(42;0.00431)		7			Asp/Glu-rich.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.21C>T	CCDS32596.1																																																																																				0.468	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		5	26	0	0	0	0.000602	0	5	26				
EVI2B	2124	broad.mit.edu	37	17	29631504	29631504	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:29631504G>T	ENST00000330927.4	-	2	1278	c.1124C>A	c.(1123-1125)cCa>cAa	p.P375Q	EVI2B_ENST00000544462.1_Missense_Mutation_p.P390Q|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.P375Q	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	375						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)|p.P375Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GTCCAGAGATGGAGGGAGACT	0.438																																							uc002hgk.2		NA																	12	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(1)		soft_tissue(7)|lung(2)|autonomic_ganglia(2)|central_nervous_system(1)	ovary(2)	2						c.(1123-1125)CCA>CAA		ecotropic viral integration site 2B precursor							129.0	116.0	120.0					17																	29631504		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29631504G>T		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.1124C>A	17.37:g.29631504G>T	ENSP00000333779:p.Pro375Gln					NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.P390Q	p.P375Q	NM_006495	NP_006486	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	1279	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	375			Cytoplasmic (Potential).		B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.1124C>A	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407699	0.42715	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.50277	0.75;0.75	5.64	4.67	0.58626	.	0.468717	0.18054	N	0.153190	T	0.53642	0.1809	L	0.29908	0.895	0.44539	D	0.997498	D;D	0.67145	0.996;0.996	D;D	0.66351	0.943;0.943	T	0.54636	-0.8264	10	0.87932	D	0	-3.3841	11.5855	0.50916	0.0855:0.0:0.9145:0.0	.	390;375	B7Z4A7;P34910	.;EVI2B_HUMAN	Q	375;390	ENSP00000333779:P375Q;ENSP00000439738:P390Q	ENSP00000333779:P375Q	P	-	2	0	EVI2B	26655630	0.028000	0.19301	0.300000	0.25030	0.904000	0.53231	1.719000	0.38011	2.660000	0.90430	0.655000	0.94253	CCA		0.438	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		13	127	1	0	9.05144e-12	0.001855	1.47692e-11	13	127				
C17orf102	400591	broad.mit.edu	37	17	32905960	32905960	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:32905960C>G	ENST00000357754.1	-	1	428	c.340G>C	c.(340-342)Gtg>Ctg	p.V114L	TMEM132E_ENST00000321639.5_5'Flank	NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	114								p.V114L(1)		central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						AGGTTTCCCACAGCTGCGCCC	0.602																																							uc002hie.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(340-342)GTG>CTG		hypothetical protein LOC400591							102.0	111.0	108.0					17																	32905960		1904	4107	6011	SO:0001583	missense	400591							g.chr17:32905960C>G		CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.340G>C	17.37:g.32905960C>G	ENSP00000350392:p.Val114Leu					TMEM132E_uc002hif.2_5'Flank	p.V114L	NM_207454	NP_997337	A2RUQ5	CQ102_HUMAN			1	429	-			114					A5PKX0|Q6ZTB3	Missense_Mutation	SNP	ENST00000357754.1	37	c.340G>C	CCDS42297.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.316998	0.40996	.	.	ENSG00000197322	ENST00000357754	T	0.37411	1.2	4.0	-8.0	0.01126	.	1.007010	0.08005	N	0.989436	T	0.15998	0.0385	N	0.19112	0.55	0.09310	N	1	B	0.22983	0.078	B	0.22386	0.039	T	0.30822	-0.9965	10	0.87932	D	0	.	0.6685	0.00854	0.3497:0.1566:0.2888:0.205	.	114	A2RUQ5	CQ102_HUMAN	L	114	ENSP00000350392:V114L	ENSP00000350392:V114L	V	-	1	0	C17orf102	29930073	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-0.754000	0.04787	-1.219000	0.02597	0.655000	0.94253	GTG		0.602	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346435.1	NM_207454		23	148	0	0	0	0.001882	0	23	148				
ACACA	31	broad.mit.edu	37	17	35486404	35486404	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:35486404T>A	ENST00000394406.2	-	47	5910	c.5720A>T	c.(5719-5721)cAc>cTc	p.H1907L	ACACA_ENST00000335166.5_Missense_Mutation_p.H1829L|ACACA_ENST00000360679.3_Missense_Mutation_p.H1849L|ACACA_ENST00000361253.5_Missense_Mutation_p.H33L|ACACA_ENST00000353139.5_Missense_Mutation_p.H1944L	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1907	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.H1944L(1)|p.H1849L(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AACTGAACTGTGCACGCTCTA	0.478																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(5719-5721)CAC>CTC		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						105.0	95.0	98.0					17																	35486404		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35486404T>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.5720A>T	17.37:g.35486404T>A	ENSP00000377928:p.His1907Leu					ACACA_uc002hnk.2_Missense_Mutation_p.H1829L|ACACA_uc002hnl.2_Missense_Mutation_p.H1849L|ACACA_uc002hnn.2_Missense_Mutation_p.H1907L|ACACA_uc002hno.2_Missense_Mutation_p.H1944L|ACACA_uc010cuy.2_Missense_Mutation_p.H552L|ACACA_uc010wdc.1_Missense_Mutation_p.H33L	p.H1907L	NM_198836	NP_942133	Q13085	ACACA_HUMAN			47	5911	-		Breast(25;0.00157)|Ovarian(249;0.15)	1907			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.5720A>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.767130	0.31320	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000427330;ENST00000361253	D;D;D;D;D	0.97430	-4.38;-4.38;-4.38;-4.38;-4.38	5.24	3.02	0.34903	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.757705	0.13474	N	0.385185	D	0.89230	0.6656	N	0.02802	-0.49	0.31361	N	0.681413	B;B;B;B	0.18863	0.007;0.031;0.0;0.0	B;B;B;B	0.18871	0.023;0.012;0.0;0.0	D	0.84412	0.0566	10	0.52906	T	0.07	1.3312	5.259	0.15563	0.1314:0.1495:0.0:0.7191	.	606;1944;1907;1849	F8W6G0;Q13085-4;Q13085;Q13085-2	.;.;ACACA_HUMAN;.	L	1944;1849;1907;1931;1829;606;33	ENSP00000344789:H1944L;ENSP00000353898:H1849L;ENSP00000377928:H1907L;ENSP00000335323:H1829L;ENSP00000354565:H33L	ENSP00000335323:H1829L	H	-	2	0	ACACA	32560517	0.832000	0.29368	0.340000	0.25575	0.981000	0.71138	1.042000	0.30303	0.317000	0.23160	0.482000	0.46254	CAC		0.478	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		6	32	0	0	0	0.001984	0	6	32				
KRTAP4-4	84616	broad.mit.edu	37	17	39316534	39316534	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:39316534T>G	ENST00000390661.3	-	1	449	c.410A>C	c.(409-411)cAg>cCg	p.Q137P		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	137	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAGGTGGTCTGGCAGCACTG	0.647																																							uc002hwc.2		NA																	0					0						c.(409-411)CAG>CCG		keratin associated protein 4.4							42.0	49.0	47.0					17																	39316534		2193	4296	6489	SO:0001583	missense	84616					keratin filament		g.chr17:39316534T>G	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	16928	protein-coding gene	gene with protein product			"""keratin associated protein 4-13"""	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.410A>C	17.37:g.39316534T>G	ENSP00000375076:p.Gln137Pro						p.Q137P	NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	450	-		Breast(137;0.000496)	137			23.|26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Q9BYU7	Missense_Mutation	SNP	ENST00000390661.3	37	c.410A>C	CCDS11383.1	.	.	.	.	.	.	.	.	.	.	.	8.029	0.761252	0.15914	.	.	ENSG00000171396	ENST00000390661	T	0.00609	6.24	3.47	-2.86	0.05717	.	.	.	.	.	T	0.00754	0.0025	M	0.85462	2.755	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.47275	-0.9130	9	0.21540	T	0.41	.	0.6555	0.00834	0.313:0.3175:0.1588:0.2106	.	137	Q9BYR3	KRA44_HUMAN	P	137	ENSP00000375076:Q137P	ENSP00000375076:Q137P	Q	-	2	0	KRTAP4-4	36570060	0.029000	0.19370	0.003000	0.11579	0.342000	0.28953	-1.573000	0.02134	-0.504000	0.06577	0.454000	0.30748	CAG		0.647	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			5	42	0	0	0	0.00308	0	5	42				
KRTAP4-3	85290	broad.mit.edu	37	17	39324300	39324300	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:39324300G>T	ENST00000391356.2	-	1	124	c.125C>A	c.(124-126)cCc>cAc	p.P42H		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	42	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.P42H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			gcagcagctggggcggcagca	0.657																																							uc010cxl.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(124-126)CCC>CAC		keratin associated protein 4-3							18.0	20.0	19.0					17																	39324300		2160	4262	6422	SO:0001583	missense	85290					keratin filament		g.chr17:39324300G>T	AJ406935	CCDS42331.1	17q21.2	2013-06-25			ENSG00000196156	ENSG00000196156		"""Keratin associated proteins"""	18908	protein-coding gene	gene with protein product							Standard	NM_033187		Approved	KAP4.3	uc010cxl.3	Q9BYR4	OTTHUMG00000133639	ENST00000391356.2:c.125C>A	17.37:g.39324300G>T	ENSP00000375151:p.Pro42His						p.P42H	NM_033187	NP_149443	Q9BYR4	KRA43_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	125	-		Breast(137;0.000496)	42			29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].|2.			Missense_Mutation	SNP	ENST00000391356.2	37	c.125C>A	CCDS42331.1	.	.	.	.	.	.	.	.	.	.	.	11.81	1.750251	0.30955	.	.	ENSG00000196156	ENST00000391356	T	0.01804	4.63	4.73	3.76	0.43208	.	3.117880	0.02665	U	0.107909	T	0.13329	0.0323	M	0.90542	3.125	0.09310	N	1	D	0.69078	0.997	D	0.63113	0.911	T	0.06197	-1.0840	10	0.87932	D	0	.	7.6028	0.28085	0.1971:0.0:0.8029:0.0	.	42	Q9BYR4	KRA43_HUMAN	H	42	ENSP00000375151:P42H	ENSP00000375151:P42H	P	-	2	0	KRTAP4-3	36577826	0.302000	0.24454	0.005000	0.12908	0.003000	0.03518	2.634000	0.46528	1.087000	0.41251	0.655000	0.94253	CCC		0.657	KRTAP4-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257784.1			4	23	1	0	0.00024832	0.009096	0.000299541	4	23				
KRT38	8687	broad.mit.edu	37	17	39594374	39594374	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:39594374G>T	ENST00000246646.3	-	6	1211	c.1212C>A	c.(1210-1212)taC>taA	p.Y404*		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	404	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.Y404*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GAAGGTTCCGGTACGTGGCAA	0.547																																							uc002hwq.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(2)	2						c.(1210-1212)TAC>TAA		keratin 38							100.0	92.0	95.0					17																	39594374		2203	4300	6503	SO:0001587	stop_gained	8687					intermediate filament	structural molecule activity	g.chr17:39594374G>T	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.1212C>A	17.37:g.39594374G>T	ENSP00000246646:p.Tyr404*						p.Y404*	NM_006771	NP_006762	O76015	KRT38_HUMAN			6	1635	-		Breast(137;0.000496)	404			Coil 2.|Rod.		A2RRM5|Q6A164	Nonsense_Mutation	SNP	ENST00000246646.3	37	c.1212C>A	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	.	22.4	4.280985	0.80692	.	.	ENSG00000171360	ENST00000246646	.	.	.	4.63	2.59	0.31030	.	0.000000	0.44483	D	0.000444	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1008	0.48172	0.075:0.0:0.7959:0.1292	.	.	.	.	X	404	.	ENSP00000246646:Y404X	Y	-	3	2	KRT38	36847900	1.000000	0.71417	0.110000	0.21437	0.835000	0.47333	3.857000	0.55972	0.198000	0.20407	-0.797000	0.03246	TAC		0.547	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		9	39	1	0	4.68919e-08	0.008291	6.66887e-08	9	39				
STAT5B	6777	broad.mit.edu	37	17	40359680	40359680	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:40359680T>C	ENST00000293328.3	-	16	2141	c.1973A>G	c.(1972-1974)gAc>gGc	p.D658G		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	658	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.D658G(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TCCCAAGCGGTCGGCTAGGGA	0.433																																							uc002hzh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|skin(1)	6						c.(1972-1974)GAC>GGC		signal transducer and activator of transcription	Dasatinib(DB01254)						126.0	124.0	124.0					17																	40359680		2203	4300	6503	SO:0001583	missense	6777				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	g.chr17:40359680T>C	BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1973A>G	17.37:g.40359680T>C	ENSP00000293328:p.Asp658Gly						p.D658G	NM_012448	NP_036580	P51692	STA5B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.135)	16	2142	-		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)	658			SH2.		Q8WWS8	Missense_Mutation	SNP	ENST00000293328.3	37	c.1973A>G	CCDS11423.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.045829	0.93685	.	.	ENSG00000173757	ENST00000293328	D	0.97161	-4.27	5.33	5.33	0.75918	SH2 motif (4);	0.088243	0.85682	D	0.000000	D	0.98359	0.9455	M	0.82923	2.615	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.99509	1.0955	10	0.87932	D	0	-6.5409	15.4598	0.75346	0.0:0.0:0.0:1.0	.	658	P51692	STA5B_HUMAN	G	658	ENSP00000293328:D658G	ENSP00000293328:D658G	D	-	2	0	STAT5B	37613206	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.868000	0.87116	2.234000	0.73211	0.533000	0.62120	GAC		0.433	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1	NM_012448		9	77	0	0	0	0.004482	0	9	77				
COASY	80347	broad.mit.edu	37	17	40716788	40716788	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:40716788G>A	ENST00000393818.2	+	4	1565	c.1109G>A	c.(1108-1110)gGg>gAg	p.G370E	COASY_ENST00000590958.1_Missense_Mutation_p.G399E|COASY_ENST00000449624.1_Missense_Mutation_p.G75E|MLX_ENST00000346833.4_5'Flank|RP11-400F19.8_ENST00000585572.1_RNA|MLX_ENST00000435881.2_5'Flank|COASY_ENST00000421097.2_Missense_Mutation_p.G370E|MLX_ENST00000246912.4_5'Flank|COASY_ENST00000420359.1_Missense_Mutation_p.G370E	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	370	DPCK.				cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)	p.G370E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AGTGGCTCTGGGAAGAGCTCA	0.587																																							uc002hzz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1108-1110)GGG>GAG		coenzyme A synthase isoform a							86.0	91.0	90.0					17																	40716788		2203	4300	6503	SO:0001583	missense	80347				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	g.chr17:40716788G>A	AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.1109G>A	17.37:g.40716788G>A	ENSP00000377406:p.Gly370Glu					COASY_uc010cyj.2_Missense_Mutation_p.G399E|COASY_uc002iab.2_Missense_Mutation_p.G75E|COASY_uc002iad.2_Missense_Mutation_p.G370E|COASY_uc002iac.2_Missense_Mutation_p.G370E|COASY_uc002iae.2_Missense_Mutation_p.G165E|MLX_uc002iaf.2_5'Flank|MLX_uc002iag.2_5'Flank|MLX_uc002iah.2_5'Flank	p.G370E	NM_001042529	NP_001035994	Q13057	COASY_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.13)	5	1266	+		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)	370			DPCK.|ATP (Potential).		B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	ENST00000393818.2	37	c.1109G>A	CCDS11429.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870166	0.91587	.	.	ENSG00000068120	ENST00000421097;ENST00000449624;ENST00000420359;ENST00000393818	T;T;T;T	0.76186	0.7;-1.0;-1.0;-1.0	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.92156	0.7513	H	0.98738	4.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95012	0.8152	10	0.87932	D	0	-23.306	17.4925	0.87708	0.0:0.0:1.0:0.0	.	399;370	Q13057-2;Q13057	.;COASY_HUMAN	E	399;75;370;370	ENSP00000393564:G399E;ENSP00000407740:G75E;ENSP00000413338:G370E;ENSP00000377406:G370E	ENSP00000377406:G370E	G	+	2	0	COASY	37970314	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.370000	0.79589	2.722000	0.93159	0.655000	0.94253	GGG		0.587	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450409.1	NM_025233		22	116	0	0	0	0.001882	0	22	116				
CNTNAP1	8506	broad.mit.edu	37	17	40835871	40835871	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:40835871T>C	ENST00000264638.4	+	2	317	c.100T>C	c.(100-102)Tat>Cat	p.Y34H	CCR10_ENST00000332438.4_5'Flank|CCR10_ENST00000591765.1_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	34	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.Y34H(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGGTCCCCTGTATGCACGCTC	0.642																																							uc002iay.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8						c.(100-102)TAT>CAT		contactin associated protein 1 precursor							42.0	39.0	40.0					17																	40835871		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40835871T>C	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.100T>C	17.37:g.40835871T>C	ENSP00000264638:p.Tyr34His					CCR10_uc002iax.3_5'Flank|CNTNAP1_uc010wgs.1_RNA	p.Y34H	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	2	316	+		Breast(137;0.000143)	34			Extracellular (Potential).|F5/8 type C.			Missense_Mutation	SNP	ENST00000264638.4	37	c.100T>C	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.213338	0.79352	.	.	ENSG00000108797	ENST00000264638	D	0.97256	-4.31	4.8	4.8	0.61643	Coagulation factor 5/8 C-terminal type domain (2);Galactose-binding domain-like (1);	0.000000	0.47455	D	0.000233	D	0.95319	0.8481	N	0.20530	0.585	0.39319	D	0.965215	D	0.67145	0.996	P	0.59546	0.859	D	0.93612	0.6940	10	0.20046	T	0.44	.	11.8261	0.52267	0.0:0.0:0.0:1.0	.	34	P78357	CNTP1_HUMAN	H	34	ENSP00000264638:Y34H	ENSP00000264638:Y34H	Y	+	1	0	CNTNAP1	38089397	1.000000	0.71417	0.569000	0.28460	0.915000	0.54546	4.113000	0.57851	2.021000	0.59480	0.379000	0.24179	TAT		0.642	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		8	31	0	0	0	0.006214	0	8	31				
DHX8	1659	broad.mit.edu	37	17	41561531	41561531	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:41561531G>T	ENST00000262415.3	+	1	198	c.126G>T	c.(124-126)ttG>ttT	p.L42F	DHX8_ENST00000540306.1_Missense_Mutation_p.L42F	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	42					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.L42F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACAATCACTTGGGGATCAACG	0.567											OREG0024434	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(56;1548 1661 49258 49987)	NSCLC(56;1548 1661 49258 49987)	uc002idu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|pancreas(1)	4						c.(124-126)TTG>TTT		DEAH (Asp-Glu-Ala-His) box polypeptide 8							112.0	105.0	108.0					17																	41561531		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41561531G>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.126G>T	17.37:g.41561531G>T	ENSP00000262415:p.Leu42Phe		OREG0024434	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	902	DHX8_uc010wif.1_5'UTR|DHX8_uc010wig.1_Missense_Mutation_p.L42F	p.L42F	NM_004941	NP_004932	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	1	199	+		Breast(137;0.00908)	42						Missense_Mutation	SNP	ENST00000262415.3	37	c.126G>T	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604707	0.66445	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.04234	3.67;3.67	5.87	1.67	0.24075	.	0.000000	0.64402	D	0.000001	T	0.15955	0.0384	M	0.67625	2.065	0.58432	D	0.999995	D;D	0.76494	0.999;0.995	D;D	0.83275	0.996;0.979	T	0.00108	-1.2050	10	0.52906	T	0.07	.	10.1069	0.42539	0.272:0.0:0.728:0.0	.	42;42	F5H658;Q14562	.;DHX8_HUMAN	F	42	ENSP00000437886:L42F;ENSP00000262415:L42F	ENSP00000262415:L42F	L	+	3	2	DHX8	38917057	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	1.895000	0.39778	0.111000	0.17947	0.655000	0.94253	TTG		0.567	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			30	79	1	0	9.8876e-21	0.004878	1.76289e-20	30	79				
HOXB3	3213	broad.mit.edu	37	17	46628225	46628225	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:46628225G>T	ENST00000470495.1	-	2	2214	c.767C>A	c.(766-768)tCg>tAg	p.S256*	HOXB3_ENST00000490677.1_Nonsense_Mutation_p.S122*|HOXB3_ENST00000485909.2_Nonsense_Mutation_p.S124*|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000489475.1_Nonsense_Mutation_p.S183*|HOXB3_ENST00000472863.1_Nonsense_Mutation_p.S183*|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000476342.1_Nonsense_Mutation_p.S256*|HOXB3_ENST00000311626.4_Nonsense_Mutation_p.S256*|HOXB3_ENST00000498678.1_Nonsense_Mutation_p.S256*|HOXB3_ENST00000460160.1_Nonsense_Mutation_p.S124*|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000508688.1_RNA			P14651	HXB3_HUMAN	homeobox B3	256					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S256*(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TGGGCCCCCCGACGACGAGGC	0.632											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002inn.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(766-768)TCG>TAG		homeobox B3							69.0	79.0	76.0					17																	46628225		2203	4300	6503	SO:0001587	stop_gained	3213				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46628225G>T		CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.767C>A	17.37:g.46628225G>T	ENSP00000417207:p.Ser256*		OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	940	HOXB3_uc010wlm.1_Nonsense_Mutation_p.S183*|HOXB3_uc010dbf.2_Nonsense_Mutation_p.S256*|HOXB3_uc010dbg.2_Nonsense_Mutation_p.S256*|HOXB3_uc002ino.2_Nonsense_Mutation_p.S256*|HOXB3_uc010wlk.1_Nonsense_Mutation_p.S124*|HOXB3_uc010wll.1_Nonsense_Mutation_p.S183*	p.S256*	NM_002146	NP_002137	P14651	HXB3_HUMAN			2	1167	-			256					A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Nonsense_Mutation	SNP	ENST00000470495.1	37	c.767C>A	CCDS11528.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636178	0.67130	.	.	ENSG00000120093	ENST00000470495;ENST00000472863;ENST00000311626;ENST00000498678;ENST00000490677;ENST00000460160;ENST00000485909;ENST00000489475;ENST00000476342	.	.	.	3.66	3.66	0.41972	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9323	0.79672	0.0:0.0:1.0:0.0	.	.	.	.	X	256;183;256;256;122;124;124;183;256	.	ENSP00000308252:S256X	S	-	2	0	HOXB3	43983224	1.000000	0.71417	0.878000	0.34440	0.534000	0.34807	8.361000	0.90098	2.067000	0.61834	0.650000	0.86243	TCG		0.632	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358261.1			38	88	1	0	3.93418e-24	0.004289	7.10095e-24	38	88				
CLTC	1213	broad.mit.edu	37	17	57762458	57762458	+	Silent	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:57762458T>C	ENST00000269122.3	+	29	4750	c.4476T>C	c.(4474-4476)aaT>aaC	p.N1492N	CLTC_ENST00000393043.1_Silent_p.N1492N|CLTC_ENST00000579456.1_Silent_p.N429N	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1492	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.N1492N(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ACTTTGACAATATCTCGCTTG	0.378			T	"""ALK, TFE3"""	"""ALCL, renal """																																		uc002ixq.1		NA		Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	1	Substitution - coding silent(1)		lung(1)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(4474-4476)AAT>AAC		clathrin heavy chain 1							121.0	124.0	123.0					17																	57762458		2203	4300	6503	SO:0001819	synonymous_variant	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57762458T>C	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.4476T>C	17.37:g.57762458T>C						CLTC_uc002ixp.2_Silent_p.N1492N|CLTC_uc002ixr.1_Silent_p.N1496N	p.N1492N	NM_004859	NP_004850	Q00610	CLH1_HUMAN			29	4919	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1492			Heavy chain arm.|Proximal segment.|Involved in binding clathrin light chain (By similarity).		D3DU00|Q6N0A0|Q86TF2	Silent	SNP	ENST00000269122.3	37	c.4476T>C	CCDS32696.1																																																																																				0.378	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		4	170	0	0	0	0.009096	0	4	170				
VMP1	81671	broad.mit.edu	37	17	57917156	57917156	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:57917156G>C	ENST00000262291.4	+	12	1415	c.1105G>C	c.(1105-1107)Gaa>Caa	p.E369Q	MIR21_ENST00000362134.1_RNA|VMP1_ENST00000536180.1_Missense_Mutation_p.E272Q|VMP1_ENST00000537567.1_Missense_Mutation_p.E235Q|VMP1_ENST00000539763.1_Missense_Mutation_p.E177Q|VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000545362.1_Missense_Mutation_p.E313Q	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	369					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)		p.E369Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						CTGGATGTTTGAAAAGTTGGT	0.388																																							uc002ixu.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1105-1107)GAA>CAA		transmembrane protein 49							311.0	296.0	301.0					17																	57917156		2203	4300	6503	SO:0001583	missense	81671				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57917156G>C		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.1105G>C	17.37:g.57917156G>C	ENSP00000262291:p.Glu369Gln					TMEM49_uc010wog.1_Missense_Mutation_p.E177Q|TMEM49_uc010woh.1_Missense_Mutation_p.E313Q|TMEM49_uc010woi.1_Missense_Mutation_p.E272Q|TMEM49_uc010woj.1_Missense_Mutation_p.E235Q|TMEM49_uc002ixv.2_RNA|MIR21_hsa-mir-21|MI0000077_5'Flank	p.E369Q	NM_030938	NP_112200	Q96GC9	VMP1_HUMAN	Epithelial(12;1.15e-09)|all cancers(12;1.15e-08)		12	1378	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		369			Helical; (Potential).		B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	ENST00000262291.4	37	c.1105G>C	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852067	0.71719	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000539763;ENST00000536180;ENST00000545362	.	.	.	5.28	5.28	0.74379	.	0.050900	0.85682	D	0.000000	T	0.74891	0.3776	L	0.52905	1.665	0.80722	D	1	P;D;D;P	0.76494	0.57;0.996;0.999;0.767	B;P;D;P	0.73708	0.274;0.9;0.981;0.465	T	0.70256	-0.4922	9	0.25106	T	0.35	-8.107	18.8903	0.92397	0.0:0.0:1.0:0.0	.	235;272;313;369	B4DED7;B4DGZ7;F5H2J3;Q96GC9	.;.;.;VMP1_HUMAN	Q	369;235;177;272;313	.	ENSP00000262291:E369Q	E	+	1	0	VMP1	55271938	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.624000	0.98398	2.474000	0.83562	0.555000	0.69702	GAA		0.388	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		39	382	0	0	0	0.00874	0	39	382				
BCAS3	54828	broad.mit.edu	37	17	58786659	58786659	+	Silent	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:58786659T>C	ENST00000390652.5	+	5	325	c.294T>C	c.(292-294)agT>agC	p.S98S	BCAS3_ENST00000588462.1_Silent_p.S98S|BCAS3_ENST00000408905.3_Silent_p.S98S|BCAS3_ENST00000407086.3_Silent_p.S98S|BCAS3_ENST00000589222.1_Silent_p.S98S	NM_001099432.1	NP_001092902.1			breast carcinoma amplified sequence 3									p.S98S(1)		NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTGGCTACAGTGATGGAATGC	0.373																																							uc002iyv.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(292-294)AGT>AGC		breast carcinoma amplified sequence 3 isoform 1							123.0	105.0	111.0					17																	58786659		1909	4130	6039	SO:0001819	synonymous_variant	54828					nucleus		g.chr17:58786659T>C	AF361219	CCDS11626.1, CCDS45749.1	17q23.2	2013-06-25			ENSG00000141376	ENSG00000141376		"""WD repeat domain containing"""	14347	protein-coding gene	gene with protein product		607470				12378525	Standard	NM_017679		Approved	FLJ20128	uc002iyv.4	Q9H6U6	OTTHUMG00000180064	ENST00000390652.5:c.294T>C	17.37:g.58786659T>C						BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Silent_p.S98S|BCAS3_uc002iyw.3_Silent_p.S94S	p.S98S	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)		5	403	+			98			WD 1.			Silent	SNP	ENST00000390652.5	37	c.294T>C	CCDS45749.1																																																																																				0.373	BCAS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449578.1	NM_017679		30	57	0	0	0	0.008361	0	30	57				
PLEKHM1P	440456	broad.mit.edu	37	17	62796792	62796792	+	RNA	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:62796792G>A	ENST00000582986.1	-	0	1128					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.S83F(1)									GTCCTGGGAGGAGGCGCGCAG	0.642																																							uc002jew.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(247-249)TCC>TTC		RecName: Full=Putative pleckstrin homology domain-containing family M member 1P;																																						440456							g.chr17:62796792G>A			17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62796792G>A						PLEKHM1P_uc002jev.3_RNA|PLEKHM1P_uc010wqe.1_Missense_Mutation_p.S83F	p.S83F	NR_024386						6	1159	-									Missense_Mutation	SNP	ENST00000582986.1	37	c.248C>T																																																																																					0.642	PLEKHM1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445598.1	NR_024386		6	26	0	0	0	0.001168	0	6	26				
WIPI1	55062	broad.mit.edu	37	17	66440705	66440705	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:66440705G>A	ENST00000262139.5	-	4	358	c.359C>T	c.(358-360)tCc>tTc	p.S120F	WIPI1_ENST00000546360.1_Missense_Mutation_p.S38F|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	120					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|autophagy (GO:0006914)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|vesicle targeting, trans-Golgi to endosome (GO:0048203)	autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|trans-Golgi network (GO:0005802)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|receptor binding (GO:0005102)	p.S120F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						AATATAAATGGACTCTTCTAG	0.428																																							uc010dey.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(358-360)TCC>TTC		WD repeat domain, phosphoinositide interacting							111.0	103.0	106.0					17																	66440705		2203	4300	6503	SO:0001583	missense	55062				macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	g.chr17:66440705G>A		CCDS11677.1	17q24.2	2014-02-12				ENSG00000070540		"""WD repeat domain containing"""	25471	protein-coding gene	gene with protein product		609224				15020712, 15602573	Standard	NM_017983		Approved	FLJ10055, WIPI49, Atg18, ATG18A	uc010dey.3	Q5MNZ9		ENST00000262139.5:c.359C>T	17.37:g.66440705G>A	ENSP00000262139:p.Ser120Phe					WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Missense_Mutation_p.S38F|WIPI1_uc002jhe.3_RNA	p.S120F	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN			4	450	-			120					Q8IXM5|Q9NWF8	Missense_Mutation	SNP	ENST00000262139.5	37	c.359C>T	CCDS11677.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985149	0.93044	.	.	ENSG00000070540	ENST00000262139;ENST00000546360	T;T	0.70164	0.63;-0.46	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.105412	0.64402	D	0.000002	T	0.82190	0.4983	M	0.87547	2.89	0.80722	D	1	P	0.44139	0.827	P	0.54706	0.759	D	0.85046	0.0926	10	0.66056	D	0.02	-12.7341	18.8342	0.92155	0.0:0.0:1.0:0.0	.	120	Q5MNZ9	WIPI1_HUMAN	F	120;38	ENSP00000262139:S120F;ENSP00000437345:S38F	ENSP00000262139:S120F	S	-	2	0	WIPI1	63952300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.959000	0.93110	2.428000	0.82296	0.561000	0.74099	TCC		0.428	WIPI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448739.1	NM_017983		7	68	0	0	0	0.00308	0	7	68				
HID1	283987	broad.mit.edu	37	17	72954520	72954520	+	Missense_Mutation	SNP	C	C	T	rs533370610		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:72954520C>T	ENST00000425042.2	-	11	1371	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	432					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)		p.E432K(1)									AAGTTCCGCTCCCCGCTCAGA	0.632											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002jmj.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1294-1296)GAG>AAG		hypothetical protein LOC283987							45.0	33.0	37.0					17																	72954520		2202	4299	6501	SO:0001583	missense	283987					integral to membrane|plasma membrane	protein binding	g.chr17:72954520C>T		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1294G>A	17.37:g.72954520C>T	ENSP00000413520:p.Glu432Lys		OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1141	C17orf28_uc010wrs.1_Missense_Mutation_p.E231K	p.E432K	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN			11	1443	-	all_lung(278;0.151)|Lung NSC(278;0.185)		432			Helical; (Potential).		Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	c.1294G>A	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	C	36	5.849292	0.97023	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.86180	0.5871	M	0.93016	3.37	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.90003	0.4116	9	0.87932	D	0	-26.1468	18.1326	0.89606	0.0:1.0:0.0:0.0	.	432	Q8IV36	CQ028_HUMAN	K	204;432;204	.	ENSP00000317795:E204K	E	-	1	0	C17orf28	70466115	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.550000	0.82173	2.284000	0.76573	0.561000	0.74099	GAG		0.632	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		4	12	0	0	0	0.009096	0	4	12				
NUP85	79902	broad.mit.edu	37	17	73229160	73229160	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:73229160A>G	ENST00000245544.4	+	16	1593	c.1522A>G	c.(1522-1524)Agg>Ggg	p.R508G	NUP85_ENST00000540768.1_Missense_Mutation_p.R111G|NUP85_ENST00000579324.1_Missense_Mutation_p.R396G|NUP85_ENST00000579298.1_Missense_Mutation_p.R463G|NUP85_ENST00000541827.1_Missense_Mutation_p.R462G|NUP85_ENST00000447371.2_Missense_Mutation_p.R340G	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	508					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.R508G(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CAGGTTCCTCAGGGATTACTG	0.587																																							uc002jng.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1522-1524)AGG>GGG		nucleoporin 85							97.0	86.0	90.0					17																	73229160		2203	4300	6503	SO:0001583	missense	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73229160A>G	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1522A>G	17.37:g.73229160A>G	ENSP00000245544:p.Arg508Gly					NUP85_uc010dgd.1_Missense_Mutation_p.R463G|NUP85_uc010wrv.1_Missense_Mutation_p.R462G|NUP85_uc002jnh.1_Missense_Mutation_p.R111G	p.R508G	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		16	1782	+	all_lung(278;0.14)|Lung NSC(278;0.168)		508					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Missense_Mutation	SNP	ENST00000245544.4	37	c.1522A>G	CCDS32730.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.816268	0.50527	.	.	ENSG00000125450	ENST00000245544;ENST00000541827;ENST00000447371;ENST00000540768	.	.	.	5.46	3.06	0.35304	.	0.241888	0.48767	D	0.000163	T	0.37785	0.1016	L	0.29908	0.895	0.35225	D	0.77636	B;B	0.27971	0.196;0.125	B;B	0.23852	0.049;0.049	T	0.44574	-0.9319	9	0.32370	T	0.25	-12.5165	11.8196	0.52230	0.712:0.288:0.0:0.0	.	462;508	B4DMQ3;Q9BW27	.;NUP85_HUMAN	G	508;462;340;111	.	ENSP00000245544:R508G	R	+	1	2	NUP85	70740755	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.846000	0.48262	0.891000	0.36235	0.459000	0.35465	AGG		0.587	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	NM_024844		3	114	0	0	0	0.004672	0	3	114				
RHBDF2	79651	broad.mit.edu	37	17	74473863	74473863	+	Missense_Mutation	SNP	C	C	T	rs531140190		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:74473863C>T	ENST00000313080.4	-	7	1037	c.764G>A	c.(763-765)cGc>cAc	p.R255H	RHBDF2_ENST00000591885.1_Missense_Mutation_p.R226H|RHBDF2_ENST00000389760.4_Missense_Mutation_p.R226H|RHBDF2_ENST00000592378.1_5'Flank	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	255					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.R255H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CAGCACCGAGCGCCCCTGTGC	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16978	0.0		0.0	False		,,,				2504	0.0						uc002jrq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(763-765)CGC>CAC		rhomboid, veinlet-like 6 isoform 1							54.0	46.0	49.0					17																	74473863		2203	4300	6503	SO:0001583	missense	79651				negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	g.chr17:74473863C>T	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.764G>A	17.37:g.74473863C>T	ENSP00000322775:p.Arg255His					RHBDF2_uc002jrp.1_Missense_Mutation_p.R226H|RHBDF2_uc002jrr.1_Missense_Mutation_p.R107H|RHBDF2_uc010wtf.1_Missense_Mutation_p.R226H|RHBDF2_uc002jrs.1_Missense_Mutation_p.R250H	p.R255H	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN			7	1057	-			255			Cytoplasmic (Potential).		A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	ENST00000313080.4	37	c.764G>A	CCDS32743.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236602	0.79800	.	.	ENSG00000129667	ENST00000313080;ENST00000389760;ENST00000389762	T;T	0.71222	-0.55;-0.55	5.43	5.43	0.79202	.	0.059465	0.64402	D	0.000002	T	0.72260	0.3438	M	0.66939	2.045	0.58432	D	0.999996	P;P;P;P	0.48911	0.917;0.632;0.786;0.746	B;B;B;B	0.42245	0.322;0.262;0.381;0.221	T	0.75816	-0.3184	10	0.49607	T	0.09	-43.4206	19.233	0.93847	0.0:1.0:0.0:0.0	.	226;201;255;226	B7Z8H4;Q6ZWP8;Q6PJF5;Q6PJF5-2	.;.;RHDF2_HUMAN;.	H	255;226;201	ENSP00000322775:R255H;ENSP00000374410:R226H	ENSP00000322775:R255H	R	-	2	0	RHBDF2	71985458	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	4.186000	0.58337	2.538000	0.85594	0.491000	0.48974	CGC		0.667	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450134.1	NM_024599		11	63	0	0	0	0.008291	0	11	63				
NARF	26502	broad.mit.edu	37	17	80436675	80436675	+	Splice_Site	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:80436675G>T	ENST00000309794.11	+	6	718		c.e6-1		NARF_ENST00000390006.4_Splice_Site|NARF_ENST00000412079.2_Splice_Site|NARF_ENST00000345415.7_Splice_Site|NARF_ENST00000581743.1_Splice_Site|RP13-991F5.2_ENST00000582249.1_RNA|NARF_ENST00000457415.3_Splice_Site	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor							lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)	p.?(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCTCTCCCCAGGCTGGGTCCG	0.642																																							uc002kfg.3		NA																	1	Unknown(1)		lung(1)	skin(1)	1						c.e6-1		nuclear prelamin A recognition factor isoform a							42.0	38.0	39.0					17																	80436675		2203	4300	6503	SO:0001630	splice_region_variant	26502					lamin filament	lamin binding	g.chr17:80436675G>T	BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.521-1G>T	17.37:g.80436675G>T						NARF_uc002kff.3_Splice_Site_p.G115_splice|NARF_uc010wvo.1_Splice_Site_p.G129_splice|NARF_uc010wvp.1_Splice_Site_p.G46_splice|NARF_uc010dit.2_Splice_Site_p.G174_splice|NARF_uc002kfj.3_Splice_Site_p.G126_splice|NARF_uc002kfi.3_Splice_Site|NARF_uc002kfh.3_Splice_Site_p.G174_splice|NARF_uc002kfk.2_Splice_Site	p.G174_splice	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		6	661	+	Breast(20;0.00106)|all_neural(118;0.0804)							A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Splice_Site	SNP	ENST00000309794.11	37	c.521_splice	CCDS32777.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.259666	0.80246	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415;ENST00000412079;ENST00000457415	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7103	0.91653	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NARF	78029964	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	9.242000	0.95408	2.679000	0.91253	0.655000	0.94253	.		0.642	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968	Intron	7	32	1	0	0.00448238	0.004482	0.00496458	7	32				
USP14	9097	broad.mit.edu	37	18	196747	196747	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:196747C>A	ENST00000261601.7	+	7	665	c.574C>A	c.(574-576)Caa>Aaa	p.Q192K	USP14_ENST00000400266.3_Missense_Mutation_p.Q181K|USP14_ENST00000582707.1_Missense_Mutation_p.Q157K|USP14_ENST00000383589.2_Missense_Mutation_p.Q146K	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	192	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q192K(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				GAAAGGTGAACAAGGACAGTA	0.368																																							uc002kkf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(574-576)CAA>AAA		ubiquitin specific protease 14 isoform a							180.0	163.0	169.0					18																	196747		2203	4300	6503	SO:0001583	missense	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:196747C>A	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.574C>A	18.37:g.196747C>A	ENSP00000261601:p.Gln192Lys					USP14_uc002kkg.1_Missense_Mutation_p.Q157K|USP14_uc010wyr.1_Missense_Mutation_p.Q181K	p.Q192K	NM_005151	NP_005142	P54578	UBP14_HUMAN			7	790	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	192					J3QRZ5|Q53XY5	Missense_Mutation	SNP	ENST00000261601.7	37	c.574C>A	CCDS32780.1	.	.	.	.	.	.	.	.	.	.	C	32	5.136930	0.94517	.	.	ENSG00000101557	ENST00000261601;ENST00000383589;ENST00000400266	T;T	0.31510	1.49;1.5	6.16	6.16	0.99307	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.40595	0.1123	L	0.48362	1.52	0.80722	D	1	P;P;P	0.44281	0.687;0.831;0.687	P;P;P	0.47251	0.542;0.472;0.542	T	0.01945	-1.1242	10	0.42905	T	0.14	-20.5293	20.8598	0.99761	0.0:1.0:0.0:0.0	.	181;157;192	B7Z4N8;A6NJA2;P54578	.;.;UBP14_HUMAN	K	192;157;181	ENSP00000261601:Q192K;ENSP00000383125:Q181K	ENSP00000261601:Q192K	Q	+	1	0	USP14	186747	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.743000	0.85020	2.937000	0.99478	0.650000	0.86243	CAA		0.368	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		20	126	1	0	2.27731e-05	0.001882	2.936e-05	20	126				
EMILIN2	84034	broad.mit.edu	37	18	2913094	2913094	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:2913094T>A	ENST00000254528.3	+	8	3013	c.2854T>A	c.(2854-2856)Tac>Aac	p.Y952N	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	952	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.Y952N(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TGATGGGCGCTACCTGATCAC	0.627																																							uc002kln.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2854-2856)TAC>AAC		elastin microfibril interfacer 2 precursor							52.0	55.0	54.0					18																	2913094		2203	4300	6503	SO:0001583	missense	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2913094T>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2854T>A	18.37:g.2913094T>A	ENSP00000254528:p.Tyr952Asn						p.Y952N	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	8	3013	+			952			C1q.		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	ENST00000254528.3	37	c.2854T>A	CCDS11828.1	.	.	.	.	.	.	.	.	.	.	T	17.55	3.417675	0.62622	.	.	ENSG00000132205	ENST00000254528;ENST00000308080	D	0.90676	-2.71	5.38	5.38	0.77491	Tumour necrosis factor-like (2);Complement C1q protein (2);	0.180158	0.39146	N	0.001457	D	0.96769	0.8945	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97990	1.0354	10	0.87932	D	0	-14.3401	15.6694	0.77262	0.0:0.0:0.0:1.0	.	952	Q9BXX0	EMIL2_HUMAN	N	952;229	ENSP00000254528:Y952N	ENSP00000254528:Y952N	Y	+	1	0	EMILIN2	2903094	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	7.606000	0.82863	2.155000	0.67459	0.533000	0.62120	TAC		0.627	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		5	47	0	0	0	0.001168	0	5	47				
DLGAP1	9229	broad.mit.edu	37	18	3534268	3534268	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:3534268C>T	ENST00000315677.3	-	10	2998	c.2403G>A	c.(2401-2403)caG>caA	p.Q801Q	DLGAP1_ENST00000400155.1_Silent_p.Q507Q|DLGAP1_ENST00000515196.2_Silent_p.Q801Q|DLGAP1_ENST00000584874.1_Silent_p.Q801Q|DLGAP1_ENST00000534970.1_Silent_p.Q485Q|DLGAP1_ENST00000539435.1_Silent_p.Q509Q|DLGAP1_ENST00000400150.3_Silent_p.Q517Q|DLGAP1_ENST00000400147.2_Silent_p.Q499Q|DLGAP1_ENST00000400149.3_Silent_p.Q491Q|DLGAP1_ENST00000581699.1_Silent_p.Q507Q|DLGAP1_ENST00000581527.1_Silent_p.Q801Q|DLGAP1_ENST00000400145.2_Silent_p.Q499Q	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	801					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.Q509Q(1)|p.Q801Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CTCGCTCTGCCTGGAGAAGCT	0.587																																							uc002kmf.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(2401-2403)CAG>CAA		discs large homolog-associated protein 1 isoform							92.0	84.0	87.0					18																	3534268		2203	4300	6503	SO:0001819	synonymous_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3534268C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2403G>A	18.37:g.3534268C>T						DLGAP1_uc010wyz.1_Silent_p.Q801Q|DLGAP1_uc002kme.1_Silent_p.Q499Q|DLGAP1_uc010dkn.2_Silent_p.Q509Q|DLGAP1_uc010wyw.1_Silent_p.Q507Q|DLGAP1_uc010wyx.1_Silent_p.Q523Q|DLGAP1_uc010wyy.1_Silent_p.Q485Q|DLGAP1_uc002kmg.2_Silent_p.Q499Q	p.Q801Q	NM_004746	NP_004737	O14490	DLGP1_HUMAN			7	2470	-		Colorectal(8;0.0257)	801					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	c.2403G>A	CCDS11836.1																																																																																				0.587	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			10	26	0	0	0	0.000978	0	10	26				
EPB41L3	23136	broad.mit.edu	37	18	5434024	5434024	+	Silent	SNP	C	C	T	rs201054385		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:5434024C>T	ENST00000341928.2	-	7	1042	c.702G>A	c.(700-702)caG>caA	p.Q234Q	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Silent_p.Q234Q|EPB41L3_ENST00000342933.3_Silent_p.Q234Q|EPB41L3_ENST00000540638.2_Silent_p.Q234Q|EPB41L3_ENST00000544123.1_Silent_p.Q234Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	234	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.Q234Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CGAGCTCTGACTGGACAGTGT	0.517																																							uc002kmt.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(700-702)CAG>CAA		erythrocyte membrane protein band 4.1-like 3							153.0	137.0	142.0					18																	5434024		2203	4300	6503	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5434024C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.702G>A	18.37:g.5434024C>T						EPB41L3_uc010wzh.1_Silent_p.Q234Q|EPB41L3_uc002kmu.1_Silent_p.Q234Q|EPB41L3_uc010dkq.1_Silent_p.Q125Q|EPB41L3_uc010dks.1_Silent_p.Q256Q|EPB41L3_uc002kmv.1_Silent_p.Q125Q	p.Q234Q	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			7	788	-			234			FERM.		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.702G>A	CCDS11838.1																																																																																				0.517	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		7	70	0	0	0	0.001984	0	7	70				
CIDEA	1149	broad.mit.edu	37	18	12262964	12262964	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:12262964G>T	ENST00000320477.9	+	2	244	c.179G>T	c.(178-180)aGc>aTc	p.S60I	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	60	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|cell death (GO:0008219)|lipid metabolic process (GO:0006629)|lipid storage (GO:0019915)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|response to stilbenoid (GO:0035634)|temperature homeostasis (GO:0001659)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|mitochondrial envelope (GO:0005740)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.S94I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GAGCTCATCAGCAAGGTGCCC	0.642																																							uc002kqt.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(178-180)AGC>ATC		cell death-inducing DFFA-like effector a isoform							36.0	36.0	36.0					18																	12262964		2203	4300	6503	SO:0001583	missense	1149				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity	g.chr18:12262964G>T	AF041378	CCDS11856.1	18p11.21	2008-08-01			ENSG00000176194	ENSG00000176194			1976	protein-coding gene	gene with protein product		604440				9564035, 18509062	Standard	NM_001279		Approved	CIDE-A	uc002kqt.4	O60543	OTTHUMG00000131691	ENST00000320477.9:c.179G>T	18.37:g.12262964G>T	ENSP00000320209:p.Ser60Ile					CIDEA_uc002kqu.3_Missense_Mutation_p.S94I|CIDEA_uc010dlc.2_RNA	p.S60I	NM_001279	NP_001270	O60543	CIDEA_HUMAN			2	244	+			60			CIDE-N.		B0YIY7|Q6UPR7	Missense_Mutation	SNP	ENST00000320477.9	37	c.179G>T	CCDS11856.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607985	0.46527	.	.	ENSG00000176194	ENST00000320477	T	0.42513	0.97	5.31	-0.515	0.11954	Caspase-activated nuclease CIDE-N (3);	0.378999	0.30235	N	0.010096	T	0.35098	0.0920	L	0.47190	1.495	0.36437	D	0.865268	B;P	0.51653	0.336;0.947	B;P	0.47075	0.227;0.536	T	0.33163	-0.9879	10	0.42905	T	0.14	-16.8136	6.6523	0.22969	0.2822:0.2242:0.4935:0.0	.	94;60	Q8N5P9;O60543	.;CIDEA_HUMAN	I	60	ENSP00000320209:S60I	ENSP00000320209:S60I	S	+	2	0	CIDEA	12252964	1.000000	0.71417	0.945000	0.38365	0.562000	0.35680	0.702000	0.25631	-0.036000	0.13669	0.655000	0.94253	AGC		0.642	CIDEA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254599.2	NM_001279		3	14	1	0	0.004672	0.004672	0.00512029	3	14				
RNMT	8731	broad.mit.edu	37	18	13731883	13731883	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:13731883A>T	ENST00000383314.2	+	3	607	c.367A>T	c.(367-369)Act>Tct	p.T123S	RNMT_ENST00000589866.1_Missense_Mutation_p.T123S|RNMT_ENST00000592764.1_Missense_Mutation_p.T123S|RNMT_ENST00000535051.1_Intron|RNMT_ENST00000543302.2_Missense_Mutation_p.T123S|RNMT_ENST00000262173.3_Missense_Mutation_p.T123S			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	123					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)	p.T123S(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						TGGAGATGGCACTCAAAATAA	0.333																																					GBM(29;474 594 19092 36647 41529)	GBM(29;474 594 19092 36647 41529)	uc002ksk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(367-369)ACT>TCT		RNA (guanine-7-) methyltransferase							55.0	65.0	62.0					18																	13731883		2203	4297	6500	SO:0001583	missense	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13731883A>T	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.367A>T	18.37:g.13731883A>T	ENSP00000372804:p.Thr123Ser					RNMT_uc002ksl.1_Missense_Mutation_p.T123S|RNMT_uc002ksm.1_Missense_Mutation_p.T123S|RNMT_uc010dlk.2_Missense_Mutation_p.T123S|RNMT_uc010xae.1_Intron	p.T123S	NM_003799	NP_003790	O43148	MCES_HUMAN			2	434	+			123					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Missense_Mutation	SNP	ENST00000383314.2	37	c.367A>T	CCDS11867.1	.	.	.	.	.	.	.	.	.	.	A	5.020	0.189414	0.09547	.	.	ENSG00000101654	ENST00000383314;ENST00000543302;ENST00000262173	.	.	.	5.43	-1.71	0.08133	.	0.698271	0.13457	N	0.386463	T	0.15003	0.0362	N	0.24115	0.695	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.0	T	0.26503	-1.0101	9	0.08381	T	0.77	-11.0395	1.1522	0.01788	0.4885:0.1346:0.2325:0.1445	.	123;123	O43148-2;O43148	.;MCES_HUMAN	S	123	.	ENSP00000262173:T123S	T	+	1	0	RNMT	13721883	0.005000	0.15991	0.001000	0.08648	0.561000	0.35649	0.555000	0.23422	-0.432000	0.07297	-0.263000	0.10527	ACT		0.333	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		12	73	0	0	0	0.001855	0	12	73				
ZNF396	252884	broad.mit.edu	37	18	32954025	32954025	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:32954025G>A	ENST00000589332.1	-	2	363	c.232C>T	c.(232-234)Cat>Tat	p.H78Y	ZNF396_ENST00000586687.1_Missense_Mutation_p.H78Y|ZNF396_ENST00000306346.1_Missense_Mutation_p.H78Y			Q96N95	ZN396_HUMAN	zinc finger protein 396	78	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H78Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						AGCCAGAGATGACAAAGTTCC	0.597																																							uc010xcf.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(232-234)CAT>TAT		zinc finger protein 396							66.0	67.0	66.0					18																	32954025		2203	4300	6503	SO:0001583	missense	252884				viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32954025G>A	AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"""-"", ""Zinc fingers, C2H2-type"""	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.232C>T	18.37:g.32954025G>A	ENSP00000466500:p.His78Tyr						p.H78Y	NM_145756	NP_665699	Q96N95	ZN396_HUMAN			2	364	-			78			SCAN box.		A1L3V0|Q8NF98|Q8TD80	Missense_Mutation	SNP	ENST00000589332.1	37	c.232C>T		.	.	.	.	.	.	.	.	.	.	G	4.365	0.067264	0.08388	.	.	ENSG00000186496	ENST00000306346;ENST00000399057	T	0.05786	3.39	3.99	-1.88	0.07713	.	0.408758	0.17714	U	0.164470	T	0.03827	0.0108	L	0.46157	1.445	0.09310	N	1	B	0.32160	0.358	B	0.30572	0.117	T	0.44019	-0.9355	10	0.02654	T	1	.	4.7867	0.13229	0.5371:0.0:0.3073:0.1556	.	78	Q96N95-3	.	Y	78	ENSP00000302310:H78Y	ENSP00000302310:H78Y	H	-	1	0	ZNF396	31208023	0.000000	0.05858	0.000000	0.03702	0.878000	0.50629	-0.001000	0.12947	-0.381000	0.07882	0.555000	0.69702	CAT		0.597	ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756		6	38	0	0	0	0.001984	0	6	38				
ELP2	55250	broad.mit.edu	37	18	33751061	33751061	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:33751061G>C	ENST00000358232.6	+	21	2325	c.2262G>C	c.(2260-2262)tgG>tgC	p.W754C	ELP2_ENST00000423854.2_Missense_Mutation_p.W684C|ELP2_ENST00000351393.6_Missense_Mutation_p.W728C|ELP2_ENST00000542824.1_Missense_Mutation_p.W684C|ELP2_ENST00000442325.2_Missense_Mutation_p.W819C|ELP2_ENST00000350494.6_Missense_Mutation_p.W749C	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	754					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|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)		p.W754C(1)		NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TATATACCTGGAAAAAGACTG	0.368																																							uc002kzk.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(2260-2262)TGG>TGC		elongator protein 2							108.0	98.0	101.0					18																	33751061		2203	4300	6503	SO:0001583	missense	55250				regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex		g.chr18:33751061G>C	AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.2262G>C	18.37:g.33751061G>C	ENSP00000350967:p.Trp754Cys					ELP2_uc010xcg.1_Missense_Mutation_p.W819C|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.W728C|ELP2_uc010xch.1_Missense_Mutation_p.W749C|ELP2_uc002kzn.1_Missense_Mutation_p.W684C|ELP2_uc002kzo.1_Missense_Mutation_p.W684C	p.W754C	NM_018255	NP_060725	Q6IA86	ELP2_HUMAN			21	2272	+			754					A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	ENST00000358232.6	37	c.2262G>C	CCDS11918.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775235	0.70107	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	5.17	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54598	0.1868	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.996;0.996;0.999;0.999;0.991;0.99	T	0.51926	-0.8643	10	0.36615	T	0.2	-5.8026	16.1611	0.81712	0.0:0.0:1.0:0.0	.	749;819;684;684;728;754	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	C	754;728;819;684;749;684	ENSP00000350967:W754C;ENSP00000257191:W728C;ENSP00000414851:W819C;ENSP00000391202:W684C;ENSP00000316051:W749C;ENSP00000443800:W684C	ENSP00000316051:W749C	W	+	3	0	ELP2	32005059	1.000000	0.71417	0.994000	0.49952	0.955000	0.61496	8.621000	0.90949	2.387000	0.81309	0.555000	0.69702	TGG		0.368	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255800.2	NM_018255		4	39	0	0	0	0.009096	0	4	39				
PIK3C3	5289	broad.mit.edu	37	18	39570474	39570474	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:39570474G>T	ENST00000262039.4	+	6	756	c.670G>T	c.(670-672)Gtc>Ttc	p.V224F	PIK3C3_ENST00000398870.3_Missense_Mutation_p.V161F	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	224					autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.V224F(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						ATTTCGATGTGTCAAGTGTGA	0.308										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	NSCLC(37;552 1060 2683 16430 37914)	uc002lap.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(1)|breast(1)	10						c.(670-672)GTC>TTC		catalytic phosphatidylinositol 3-kinase 3							175.0	170.0	172.0					18																	39570474		2202	4300	6502	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39570474G>T	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.670G>T	18.37:g.39570474G>T	ENSP00000262039:p.Val224Phe	TSP Lung(28;0.18)				PIK3C3_uc010xcl.1_Missense_Mutation_p.V161F	p.V224F	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN			6	728	+			224					Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.670G>T	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.489406	0.64074	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.66460	-0.21;0.17	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.67183	0.2866	M	0.66506	2.035	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.18871	0.023;0.004	T	0.62163	-0.6912	9	.	.	.	.	19.4019	0.94634	0.0:0.0:1.0:0.0	.	161;224	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	F	224;161	ENSP00000262039:V224F;ENSP00000381845:V161F	.	V	+	1	0	PIK3C3	37824472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.512000	0.98008	2.645000	0.89757	0.591000	0.81541	GTC		0.308	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647		6	43	1	0	1.76689e-08	0.006214	2.55257e-08	6	43				
SLC14A1	6563	broad.mit.edu	37	18	43310394	43310395	+	Missense_Mutation	DNP	TA	TA	CT			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	TA	TA	-	-	TA	TA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:43310394_43310395TA>CT	ENST00000321925.4	+	3	341_342	c.109_110TA>CT	c.(109-111)TAt>CTt	p.Y37L	SLC14A1_ENST00000586142.1_Missense_Mutation_p.Y37L|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000436407.3_Missense_Mutation_p.Y93L|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000415427.3_Missense_Mutation_p.Y93L|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000589700.1_Missense_Mutation_p.Y37L	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	37					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)	p.Y37L(1)|p.Y93L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						AGCTCTTGGCTATGTCACCGGT	0.485																																							uc010xcn.1		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(109-111)TAT>CTT		solute carrier family 14 (urea transporter),																																				SO:0001583	missense	6563					integral to plasma membrane	urea transmembrane transporter activity	g.chr18:43310394_43310395TA>CT	BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	Exception_encountered	18.37:g.43310394_43310395delinsCT	ENSP00000318546:p.Tyr37Leu					SLC14A1_uc010dnk.2_Missense_Mutation_p.Y93L|SLC14A1_uc002lbf.3_Missense_Mutation_p.Y37L|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Intron|SLC14A1_uc002lbh.3_Intron|SLC14A1_uc002lbi.3_Intron|SLC14A1_uc002lbj.3_Missense_Mutation_p.Y93L|SLC14A1_uc002lbk.3_Missense_Mutation_p.Y37L	p.Y37L	NM_001146036	NP_001139508	Q13336	UT1_HUMAN			4	428_429	+			37					A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	DNP	ENST00000321925.4	37	c.109_110TA>CT	CCDS11925.1																																																																																				0.485	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255860.2	NM_015865		11	62	0	0	0	0.004672	0	11	62				
TCEB3B	51224	broad.mit.edu	37	18	44561625	44561625	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:44561625C>T	ENST00000332567.4	-	1	363	c.11G>A	c.(10-12)gGg>gAg	p.G4E	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	4					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G4E(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGTAGTGGACCCTGCCGCCAT	0.617																																							uc002lcr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(10-12)GGG>GAG		elongin A2							50.0	48.0	48.0					18																	44561625		2202	4298	6500	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44561625C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.11G>A	18.37:g.44561625C>T	ENSP00000331302:p.Gly4Glu					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.G4E	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	364	-			4					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.11G>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127143	0.37533	.	.	ENSG00000206181	ENST00000332567	T	0.06687	3.27	2.35	-1.98	0.07480	Transcription factor IIS, N-terminal (1);	0.425788	0.16385	N	0.216717	T	0.09862	0.0242	L	0.36672	1.1	0.09310	N	1	D	0.58268	0.982	P	0.55545	0.778	T	0.15263	-1.0443	10	0.72032	D	0.01	-2.5489	3.3027	0.06989	0.0:0.2593:0.2418:0.4989	.	4	Q8IYF1	ELOA2_HUMAN	E	4	ENSP00000331302:G4E	ENSP00000331302:G4E	G	-	2	0	TCEB3B	42815623	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.284000	0.02793	-0.460000	0.07003	-0.259000	0.10710	GGG		0.617	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		4	29	0	0	0	0.009096	0	4	29				
NEDD4L	23327	broad.mit.edu	37	18	56033381	56033381	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:56033381G>T	ENST00000400345.3	+	21	2267	c.1984G>T	c.(1984-1986)Ggt>Tgt	p.G662C	NEDD4L_ENST00000356462.6_Missense_Mutation_p.G598C|NEDD4L_ENST00000256830.9_Missense_Mutation_p.G558C|NEDD4L_ENST00000382850.4_Missense_Mutation_p.G642C|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000431212.2_Missense_Mutation_p.G541C|NEDD4L_ENST00000357895.5_Missense_Mutation_p.G654C|NEDD4L_ENST00000256832.7_Missense_Mutation_p.G522C|NEDD4L_ENST00000456173.2_Missense_Mutation_p.G521C|NEDD4L_ENST00000456986.1_Missense_Mutation_p.G541C|NEDD4L_ENST00000435432.2_Missense_Mutation_p.G521C|NEDD4L_ENST00000586263.1_Missense_Mutation_p.G634C	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	662	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)	p.G642C(1)|p.G662C(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TGACTATGGGGGTGTGGCCAG	0.458																																							uc002lgy.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)	4						c.(1984-1986)GGT>TGT		neural precursor cell expressed, developmentally							102.0	98.0	100.0					18																	56033381		1878	4117	5995	SO:0001583	missense	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:56033381G>T	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1984G>T	18.37:g.56033381G>T	ENSP00000383199:p.Gly662Cys					NEDD4L_uc002lgz.2_Missense_Mutation_p.G598C|NEDD4L_uc002lgx.2_Missense_Mutation_p.G642C|NEDD4L_uc010xee.1_Missense_Mutation_p.G541C|NEDD4L_uc002lhc.2_Missense_Mutation_p.G654C|NEDD4L_uc002lhd.2_Missense_Mutation_p.G541C|NEDD4L_uc002lhb.2_Missense_Mutation_p.G521C|NEDD4L_uc002lhe.2_Missense_Mutation_p.G634C|NEDD4L_uc002lhf.2_Missense_Mutation_p.G521C|NEDD4L_uc002lhg.2_Missense_Mutation_p.G541C|NEDD4L_uc002lhh.2_Missense_Mutation_p.G437C|NEDD4L_uc010dpn.2_5'UTR	p.G662C	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN			21	2258	+			662			HECT.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	c.1984G>T	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009361	0.93346	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	D;D;D;D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.54	5.54	0.83059	HECT (3);	0.000000	0.85682	D	0.000000	D	0.97539	0.9194	H	0.99732	4.735	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.998;1.0;1.0	D	0.98965	1.0799	10	0.87932	D	0	.	19.8487	0.96730	0.0:0.0:1.0:0.0	.	634;654;521;598;662;642	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	C	662;642;598;558;522;541;654;521;521;541	ENSP00000383199:G662C;ENSP00000372301:G642C;ENSP00000348847:G598C;ENSP00000256830:G558C;ENSP00000256832:G522C;ENSP00000411947:G541C;ENSP00000350569:G654C;ENSP00000393395:G521C;ENSP00000405440:G521C;ENSP00000389406:G541C	ENSP00000256830:G558C	G	+	1	0	NEDD4L	54184361	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	9.813000	0.99286	2.748000	0.94277	0.650000	0.86243	GGT		0.458	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			4	29	1	0	0.00909568	0.009096	0.00987956	4	29				
KIAA1468	57614	broad.mit.edu	37	18	59855222	59855222	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:59855222G>T	ENST00000398130.2	+	1	716	c.484G>T	c.(484-486)Gga>Tga	p.G162*	KIAA1468_ENST00000256858.6_Nonsense_Mutation_p.G162*|PIGN_ENST00000400334.3_5'Flank|PIGN_ENST00000357637.5_5'Flank|PIGN_ENST00000593225.1_5'Flank	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	162								p.G162*(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TGGGGGCGCTGGAGGTCGGGA	0.642											OREG0025032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002lil.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(484-486)GGA>TGA		hypothetical protein LOC57614							6.0	8.0	7.0					18																	59855222		1801	3779	5580	SO:0001587	stop_gained	57614						binding	g.chr18:59855222G>T	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.484G>T	18.37:g.59855222G>T	ENSP00000381198:p.Gly162*		OREG0025032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1041	PIGN_uc002lii.3_5'Flank|PIGN_uc002lij.3_5'Flank|KIAA1468_uc002lik.1_Nonsense_Mutation_p.G162*|KIAA1468_uc010xel.1_Nonsense_Mutation_p.G162*	p.G162*	NM_020854	NP_065905	Q9P260	K1468_HUMAN			1	699	+		Colorectal(73;0.186)	162						Nonsense_Mutation	SNP	ENST00000398130.2	37	c.484G>T	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	G	39	7.551061	0.98352	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	4.22	4.22	0.49857	.	0.215303	0.31177	N	0.008117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.6499	11.641	0.51233	0.0:0.0:0.8225:0.1775	.	.	.	.	X	162	.	.	G	+	1	0	KIAA1468	58006202	0.994000	0.37717	1.000000	0.80357	0.864000	0.49448	1.854000	0.39368	2.196000	0.70406	0.561000	0.74099	GGA		0.642	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		5	8	1	0	5.9392e-07	0.001168	8.17619e-07	5	8				
KIAA1468	57614	broad.mit.edu	37	18	59888679	59888679	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:59888679G>T	ENST00000398130.2	+	5	1039	c.807G>T	c.(805-807)aaG>aaT	p.K269N	KIAA1468_ENST00000256858.6_Missense_Mutation_p.K269N	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	269	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.							p.K269N(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TTTTATTGAAGAATAACTATA	0.299																																							uc002lil.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(805-807)AAG>AAT		hypothetical protein LOC57614							54.0	51.0	52.0					18																	59888679		1801	4059	5860	SO:0001583	missense	57614						binding	g.chr18:59888679G>T	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.807G>T	18.37:g.59888679G>T	ENSP00000381198:p.Lys269Asn					KIAA1468_uc002lik.1_Missense_Mutation_p.K269N|KIAA1468_uc010xel.1_Missense_Mutation_p.K269N|KIAA1468_uc002lim.2_5'UTR	p.K269N	NM_020854	NP_065905	Q9P260	K1468_HUMAN			5	1022	+		Colorectal(73;0.186)	269			LisH.			Missense_Mutation	SNP	ENST00000398130.2	37	c.807G>T	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798050	0.31777	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.47177	0.85;0.85	5.75	5.75	0.90469	LisH dimerisation motif (2);	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	L	0.41236	1.265	0.58432	D	0.999999	P;P	0.45044	0.849;0.824	P;B	0.45428	0.48;0.263	T	0.22138	-1.0225	9	.	.	.	-13.4447	13.191	0.59711	0.0727:0.0:0.9273:0.0	.	269;269	Q9P260-2;Q9P260	.;K1468_HUMAN	N	269	ENSP00000381198:K269N;ENSP00000256858:K269N	.	K	+	3	2	KIAA1468	58039659	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.778000	0.47726	2.728000	0.93425	0.650000	0.86243	AAG		0.299	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		8	61	1	0	0.000157383	0.00308	0.000192065	8	61				
SERPINB8	5271	broad.mit.edu	37	18	61645624	61645624	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:61645624G>A	ENST00000397985.2	+	2	338	c.82G>A	c.(82-84)Gta>Ata	p.V28I	SERPINB8_ENST00000397988.3_Missense_Mutation_p.V28I|HMSD_ENST00000481726.1_3'UTR|SERPINB8_ENST00000542677.1_Intron|SERPINB8_ENST00000353706.2_Missense_Mutation_p.V28I	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	28					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V28I(1)		breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CTCAAGAAACGTATTCTTCTC	0.488																																							uc002ljv.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(82-84)GTA>ATA		serine (or cysteine) proteinase inhibitor, clade							99.0	87.0	91.0					18																	61645624		2203	4300	6503	SO:0001583	missense	5271				regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61645624G>A	L40377	CCDS11991.1, CCDS42442.1, CCDS62460.1	18q22.1	2014-02-18	2005-08-18		ENSG00000166401	ENSG00000166401		"""Serine (or cysteine) peptidase inhibitors"""	8952	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase 2"""	601697	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 8"""	PI8		8530382, 9268635, 24172014	Standard	NM_198833		Approved	CAP2	uc002lju.3	P50452	OTTHUMG00000060596	ENST00000397985.2:c.82G>A	18.37:g.61645624G>A	ENSP00000381072:p.Val28Ile					SERPINB8_uc002ljs.1_Missense_Mutation_p.V28I|SERPINB8_uc002ljt.2_Missense_Mutation_p.V28I|SERPINB8_uc002lju.2_Missense_Mutation_p.V28I|SERPINB8_uc010xex.1_Intron	p.V28I	NM_198833	NP_942130	P50452	SPB8_HUMAN			2	251	+		Esophageal squamous(42;0.129)	28					B4DTW2|Q7Z2V6|Q8N178	Missense_Mutation	SNP	ENST00000397985.2	37	c.82G>A	CCDS11991.1	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.311704	0.01342	.	.	ENSG00000166401	ENST00000397985;ENST00000353706;ENST00000397988;ENST00000448851;ENST00000441827	D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78	5.03	-0.945	0.10388	Serpin domain (3);	0.300125	0.37012	N	0.002292	T	0.63450	0.2512	N	0.21324	0.655	0.21579	N	0.999636	B;B	0.29531	0.083;0.247	B;B	0.29598	0.104;0.104	T	0.53272	-0.8462	10	0.09084	T	0.74	.	6.5779	0.22577	0.5031:0.2467:0.2502:0.0	.	28;28	P50452;Q8N178	SPB8_HUMAN;.	I	28	ENSP00000381072:V28I;ENSP00000331368:V28I;ENSP00000381075:V28I;ENSP00000414580:V28I;ENSP00000393456:V28I	ENSP00000331368:V28I	V	+	1	0	SERPINB8	59796604	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.047000	0.11963	-0.421000	0.07416	-1.619000	0.00793	GTA		0.488	SERPINB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134014.1	NM_001031848		18	55	0	0	0	0.00499	0	18	55				
CTDP1	9150	broad.mit.edu	37	18	77464788	77464788	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr18:77464788G>T	ENST00000299543.7	+	5	790	c.643G>T	c.(643-645)Ggc>Tgc	p.G215C	CTDP1_ENST00000075430.7_Missense_Mutation_p.G215C|RP11-567M16.5_ENST00000587315.1_RNA	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	215	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				exit from mitosis (GO:0010458)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein dephosphorylation (GO:0006470)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	CTD phosphatase activity (GO:0008420)|DNA-directed RNA polymerase activity (GO:0003899)	p.G215C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CTTCCAGCTGGGCCGGGGTGA	0.607																																							uc002lnh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(643-645)GGC>TGC		CTD (carboxy-terminal domain, RNA polymerase II,							67.0	66.0	67.0					18																	77464788		2203	4300	6503	SO:0001583	missense	9150				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	g.chr18:77464788G>T	AF081287	CCDS12017.1, CCDS12018.1, CCDS74239.1	18q23	2014-09-17			ENSG00000060069	ENSG00000060069		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	2498	protein-coding gene	gene with protein product		604927				9405607, 9765293	Standard	NM_004715		Approved	FCP1	uc002lnh.2	Q9Y5B0	OTTHUMG00000132920	ENST00000299543.7:c.643G>T	18.37:g.77464788G>T	ENSP00000299543:p.Gly215Cys					CTDP1_uc002lni.1_Missense_Mutation_p.G215C|CTDP1_uc010drd.1_Missense_Mutation_p.G215C	p.G215C	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)	5	790	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	215			FCP1 homology.		A8MY97|Q7Z644|Q96BZ1|Q9Y6F5	Missense_Mutation	SNP	ENST00000299543.7	37	c.643G>T	CCDS12017.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882003	0.91740	.	.	ENSG00000060069	ENST00000299543;ENST00000075430	T;T	0.17370	2.28;2.28	4.96	4.96	0.65561	NLI interacting factor (3);FCP1-like phosphatase, phosphatase domain (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.42268	0.1195	M	0.68952	2.095	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	0.21827	-1.0234	10	0.48119	T	0.1	-41.1828	18.5597	0.91096	0.0:0.0:1.0:0.0	.	96;215;215	Q9Y5B0-3;Q9Y5B0-4;Q9Y5B0	.;.;CTDP1_HUMAN	C	215	ENSP00000299543:G215C;ENSP00000075430:G215C	ENSP00000075430:G215C	G	+	1	0	CTDP1	75565776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.070000	0.76763	2.440000	0.82611	0.655000	0.94253	GGC		0.607	CTDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256432.1	NM_004715		5	55	1	0	2.7689e-08	0.001984	3.97655e-08	5	55				
ABCA7	10347	broad.mit.edu	37	19	1055931	1055931	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:1055931G>A	ENST00000263094.6	+	31	4462	c.4231G>A	c.(4231-4233)Gag>Aag	p.E1411K	ABCA7_ENST00000433129.1_Missense_Mutation_p.E1411K|ABCA7_ENST00000435683.2_Missense_Mutation_p.E1273K	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1411					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)	p.E1411K(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGGTGAATGAGGTCAGGTG	0.632																																							uc002lqw.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(7)|ovary(1)|central_nervous_system(1)	9						c.(4231-4233)GAG>AAG		ATP-binding cassette, sub-family A, member 7							147.0	121.0	130.0					19																	1055931		2202	4300	6502	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1055931G>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4231G>A	19.37:g.1055931G>A	ENSP00000263094:p.Glu1411Lys					ABCA7_uc010dsb.1_Missense_Mutation_p.E1273K|ABCA7_uc002lqy.2_5'Flank|ABCA7_uc010dsc.2_5'Flank	p.E1411K	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	31	4462	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	1411			Extracellular (By similarity).		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.4231G>A	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.658384	0.88154	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.95137	-3.62;-3.62	3.29	3.29	0.37713	.	.	.	.	.	D	0.95743	0.8615	M	0.70595	2.14	0.37088	D	0.899308	D;D	0.67145	0.97;0.996	P;D	0.62955	0.878;0.909	D	0.95552	0.8621	9	0.36615	T	0.2	.	11.3996	0.49862	0.0:0.0:1.0:0.0	.	1273;1411	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	K	1411	ENSP00000263094:E1411K;ENSP00000414062:E1411K	ENSP00000263094:E1411K	E	+	1	0	ABCA7	1006931	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.991000	0.93514	1.679000	0.50963	0.561000	0.74099	GAG		0.632	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		9	30	0	0	0	0.008291	0	9	30				
TMPRSS9	360200	broad.mit.edu	37	19	2410317	2410317	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:2410317C>T	ENST00000332578.3	+	8	1077	c.1077C>T	c.(1075-1077)gcC>gcT	p.A359A		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	359	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.A359A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTGTGTGCCAGCTTGTACG	0.627																																							uc010xgx.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1075-1077)GCC>GCT		transmembrane protease, serine 9							99.0	86.0	90.0					19																	2410317		2203	4300	6503	SO:0001819	synonymous_variant	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2410317C>T	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1077C>T	19.37:g.2410317C>T						TMPRSS9_uc002lvv.1_Silent_p.A393A	p.A359A	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1077	+			359			Extracellular (Potential).|Peptidase S1 1.		Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	c.1077C>T	CCDS12088.1																																																																																				0.627	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		8	44	0	0	0	0.00308	0	8	44				
NFIC	4782	broad.mit.edu	37	19	3433537	3433537	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:3433537G>C	ENST00000443272.2	+	4	707	c.656G>C	c.(655-657)aGc>aCc	p.S219T	NFIC_ENST00000346156.5_Missense_Mutation_p.S186T|NFIC_ENST00000589123.1_Missense_Mutation_p.S210T|NFIC_ENST00000395111.3_Missense_Mutation_p.S210T|NFIC_ENST00000590282.1_Missense_Mutation_p.S219T|NFIC_ENST00000586919.1_Missense_Mutation_p.S186T|NFIC_ENST00000341919.3_Missense_Mutation_p.S219T	NM_001245002.1	NP_001231931.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	219					DNA replication (GO:0006260)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleus (GO:0005634)	core promoter proximal region DNA binding (GO:0001159)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S210T(1)|p.S210I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		TTCCAGGAGAGCTTTGTCACC	0.622																																							uc010xhi.1		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(655-657)AGC>ACC		nuclear factor I/C isoform 2							119.0	88.0	99.0					19																	3433537		2203	4300	6503	SO:0001583	missense	4782				DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3433537G>C	X12492	CCDS12107.1, CCDS45914.1, CCDS58640.1, CCDS59330.1, CCDS59331.1	19p13.3	2008-02-05				ENSG00000141905			7786	protein-coding gene	gene with protein product		600729		NFI		3398920, 7590749	Standard	NM_205843		Approved	CTF, NF-I, CTF5	uc010xhi.2	P08651		ENST00000443272.2:c.656G>C	19.37:g.3433537G>C	ENSP00000396843:p.Ser219Thr					NFIC_uc002lxo.2_Missense_Mutation_p.S210T|NFIC_uc010xhh.1_Missense_Mutation_p.S210T|NFIC_uc002lxp.2_Missense_Mutation_p.S219T|NFIC_uc010xhj.1_Missense_Mutation_p.S219T|NFIC_uc002lxq.1_Missense_Mutation_p.S171T	p.S219T	NM_205843	NP_995315	P08651	NFIC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)	4	718	+		Hepatocellular(1079;0.137)	219					A8K1H0|B7Z4U5|B7Z9C3|K7EMU1|P08652|Q14932|Q9UPJ3|Q9UPJ9|Q9UPK0|Q9UPK1	Missense_Mutation	SNP	ENST00000443272.2	37	c.656G>C	CCDS59330.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920066	0.52653	.	.	ENSG00000141905	ENST00000443272;ENST00000395111;ENST00000346156;ENST00000341919;ENST00000343825;ENST00000269778	T;T;T	0.58060	0.36;0.36;0.36	3.95	3.95	0.45737	.	0.108090	0.64402	D	0.000011	T	0.47340	0.1440	L	0.61218	1.895	0.46416	D	0.999033	P;B;P;B;B	0.39717	0.684;0.334;0.493;0.152;0.277	B;B;B;B;B	0.40199	0.322;0.159;0.215;0.153;0.143	T	0.50550	-0.8815	10	0.02654	T	1	.	14.9573	0.71127	0.0:0.0:1.0:0.0	.	219;219;210;219;210	B7Z4U5;P08651;P08651-3;P08651-5;P08651-2	.;NFIC_HUMAN;.;.;.	T	210;210;186;219;219;219	ENSP00000378543:S210T;ENSP00000301935:S186T;ENSP00000342194:S219T	ENSP00000269778:S219T	S	+	2	0	NFIC	3384537	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.409000	0.73289	1.932000	0.55993	0.561000	0.74099	AGC		0.622	NFIC-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452834.1	NM_005597		4	34	0	0	0	0.000602	0	4	34				
EBI3	10148	broad.mit.edu	37	19	4231316	4231316	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:4231316T>A	ENST00000221847.5	+	2	249	c.196T>A	c.(196-198)Tac>Aac	p.Y66N		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	66	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|humoral immune response (GO:0006959)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|T-helper 1 type immune response (GO:0042088)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)	p.Y66N(1)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTGCCACGTACAGGTCGGA	0.637																																							uc002lzu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(196-198)TAC>AAC		Epstein-Barr virus induced 3 precursor							25.0	24.0	25.0					19																	4231316		2203	4300	6503	SO:0001583	missense	10148				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity	g.chr19:4231316T>A	L08187	CCDS12123.1	19p13	2013-02-11	2008-09-12		ENSG00000105246	ENSG00000105246		"""Fibronectin type III domain containing"""	3129	protein-coding gene	gene with protein product	"""IL27 subunit"", ""IL35 subunit"""	605816				8551575	Standard	NM_005755		Approved		uc002lzu.3	Q14213		ENST00000221847.5:c.196T>A	19.37:g.4231316T>A	ENSP00000221847:p.Tyr66Asn						p.Y66N	NM_005755	NP_005746	Q14213	IL27B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)	2	204	+		Hepatocellular(1079;0.137)	66			Fibronectin type-III 1.		A0N0N2|O75269	Missense_Mutation	SNP	ENST00000221847.5	37	c.196T>A	CCDS12123.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.888032	0.52014	.	.	ENSG00000105246	ENST00000221847	T	0.58652	0.32	5.53	5.53	0.82687	Fibronectin, type III (3);Immunoglobulin-like fold (1);	321.931000	0.00166	N	0.000000	T	0.80144	0.4569	M	0.79475	2.455	0.53688	D	0.999975	D	0.89917	1.0	D	0.79108	0.992	T	0.59789	-0.7388	10	0.87932	D	0	-35.1375	12.0428	0.53462	0.0:0.0:0.0:1.0	.	66	Q14213	IL27B_HUMAN	N	66	ENSP00000221847:Y66N	ENSP00000221847:Y66N	Y	+	1	0	EBI3	4182316	0.996000	0.38824	0.916000	0.36221	0.058000	0.15608	3.892000	0.56235	2.103000	0.63969	0.533000	0.62120	TAC		0.637	EBI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458005.1			3	15	0	0	0	0.009096	0	3	15				
FBN3	84467	broad.mit.edu	37	19	8160275	8160275	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:8160275A>T	ENST00000600128.1	-	46	6183	c.5769T>A	c.(5767-5769)gaT>gaA	p.D1923E	FBN3_ENST00000601739.1_Missense_Mutation_p.D1923E|FBN3_ENST00000270509.2_Missense_Mutation_p.D1923E			Q75N90	FBN3_HUMAN	fibrillin 3	1923	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.D1923E(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGTTCTTCCCATCAGCTGTGA	0.567																																							uc002mjf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(5767-5769)GAT>GAA		fibrillin 3 precursor							97.0	70.0	79.0					19																	8160275		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8160275A>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5769T>A	19.37:g.8160275A>T	ENSP00000470498:p.Asp1923Glu						p.D1923E	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			45	5790	-			1923			EGF-like 30; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.5769T>A	CCDS12196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.99|13.99	2.401909|2.401909	0.42613|0.42613	.|.	.|.	ENSG00000142449|ENSG00000142449	ENST00000270509|ENST00000341066	D|.	0.88124|.	-2.34|.	4.91|4.91	1.61|1.61	0.23674|0.23674	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.68412|0.68412	0.2998|0.2998	M|M	0.77103|0.77103	2.36|2.36	0.45946|0.45946	D|D	0.998779|0.998779	D|.	0.64830|.	0.994|.	P|.	0.61592|.	0.891|.	T|T	0.61724|0.61724	-0.7004|-0.7004	10|6	0.62326|0.27082	D|T	0.03|0.32	.|.	9.9943|9.9943	0.41889|0.41889	0.6807:0.0:0.3193:0.0|0.6807:0.0:0.3193:0.0	.|.	1923|.	Q75N90|.	FBN3_HUMAN|.	E|K	1923|43	ENSP00000270509:D1923E|.	ENSP00000270509:D1923E|ENSP00000341317:M43K	D|M	-|-	3|2	2|0	FBN3|FBN3	8066275|8066275	0.125000|0.125000	0.22332|0.22332	0.640000|0.640000	0.29408|0.29408	0.043000|0.043000	0.13939|0.13939	0.101000|0.101000	0.15251|0.15251	-0.038000|-0.038000	0.13624|0.13624	0.528000|0.528000	0.53228|0.53228	GAT|ATG		0.567	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		4	33	0	0	0	0.000602	0	4	33				
MUC16	94025	broad.mit.edu	37	19	9064859	9064859	+	Silent	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:9064859A>T	ENST00000397910.4	-	3	22790	c.22587T>A	c.(22585-22587)acT>acA	p.T7529T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7531	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.T7529T(2)|p.T3162T(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						GAATTTTCCTAGTGTTAGATA	0.478																																							uc002mkp.2		NA																	3	Substitution - coding silent(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(22585-22587)ACT>ACA		mucin 16							114.0	110.0	111.0					19																	9064859		1994	4171	6165	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064859A>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.22587T>A	19.37:g.9064859A>T							p.T7529T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	22791	-			7531			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.22587T>A	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	55	0	0	0	0.001368	0	12	55				
MUC16	94025	broad.mit.edu	37	19	9065531	9065531	+	Silent	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:9065531G>C	ENST00000397910.4	-	3	22118	c.21915C>G	c.(21913-21915)acC>acG	p.T7305T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7307	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.T7305T(2)|p.T2938T(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						TTTTTCTTGTGGTGGATATTT	0.463																																							uc002mkp.2		NA																	3	Substitution - coding silent(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(21913-21915)ACC>ACG		mucin 16							146.0	139.0	141.0					19																	9065531		1925	4118	6043	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065531G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21915C>G	19.37:g.9065531G>C							p.T7305T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	22119	-			7307			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.21915C>G	CCDS54212.1																																																																																				0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	38	0	0	0	0.00308	0	8	38				
MUC16	94025	broad.mit.edu	37	19	9088103	9088103	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:9088103T>C	ENST00000397910.4	-	1	3915	c.3712A>G	c.(3712-3714)Acc>Gcc	p.T1238A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1238	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCTGAGGGTTGGAAGTCCC	0.507																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(3712-3714)ACC>GCC		mucin 16							342.0	336.0	338.0					19																	9088103		2110	4241	6351	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088103T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3712A>G	19.37:g.9088103T>C	ENSP00000381008:p.Thr1238Ala						p.T1238A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	3916	-			1238			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3712A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	2.928	-0.221619	0.06061	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	1.38	0.306	0.15806	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	.	.	.	B	0.27166	0.17	B	0.15052	0.012	T	0.44892	-0.9298	8	0.87932	D	0	.	3.1954	0.06631	0.0:0.2605:0.0:0.7395	.	1238	B5ME49	.	A	1238	ENSP00000381008:T1238A	ENSP00000381008:T1238A	T	-	1	0	MUC16	8949103	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.802000	0.04545	0.026000	0.15269	0.254000	0.18369	ACC		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		60	293	0	0	0	0.00361	0	60	293				
CYP4F22	126410	broad.mit.edu	37	19	15648395	15648395	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:15648395C>A	ENST00000269703.3	+	6	670	c.471C>A	c.(469-471)cgC>cgA	p.R157R	CYP4F22_ENST00000601005.2_Silent_p.R157R	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	157						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)	p.R157R(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GGCACCGTCGCCTGCTGACAC	0.547																																							uc002nbh.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(469-471)CGC>CGA		cytochrome P450, family 4, subfamily F,							71.0	71.0	71.0					19																	15648395		2203	4300	6503	SO:0001819	synonymous_variant	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15648395C>A		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.471C>A	19.37:g.15648395C>A							p.R157R	NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN			6	638	+			157					Q8N8H4	Silent	SNP	ENST00000269703.3	37	c.471C>A	CCDS12331.1																																																																																				0.547	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		12	55	1	0	6.40141e-05	0.000978	8.01272e-05	12	55				
MYO9B	4650	broad.mit.edu	37	19	17212808	17212808	+	Missense_Mutation	SNP	G	G	T	rs575789959	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:17212808G>T	ENST00000594824.1	+	2	428	c.281G>T	c.(280-282)cGg>cTg	p.R94L	CTD-2528A14.5_ENST00000597045.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.R94L|MYO9B_ENST00000595618.1_Missense_Mutation_p.R94L			Q13459	MYO9B_HUMAN	myosin IXB	94	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.R94L(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGGCCCCGGCGGGCACAGGAC	0.607																																							uc010eak.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(280-282)CGG>CTG		myosin IXB isoform 1							33.0	38.0	37.0					19																	17212808		2028	4178	6206	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17212808G>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.281G>T	19.37:g.17212808G>T	ENSP00000471367:p.Arg94Leu					MYO9B_uc002nfi.2_Missense_Mutation_p.R94L|MYO9B_uc002nfj.1_Missense_Mutation_p.R94L	p.R94L	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			2	433	+			94			Ras-associating.|Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.281G>T		.	.	.	.	.	.	.	.	.	.	G	18.61	3.662163	0.67700	.	.	ENSG00000099331	ENST00000397274	T	0.30182	1.54	5.39	5.39	0.77823	Ras-association (3);	0.000000	0.45361	D	0.000367	T	0.29817	0.0745	L	0.35414	1.06	0.40876	D	0.983957	B;B;P	0.42827	0.288;0.288;0.791	B;B;P	0.46208	0.195;0.195;0.507	T	0.03287	-1.1052	10	0.41790	T	0.15	.	11.5984	0.50988	0.0815:0.0:0.9185:0.0	.	94;94;100	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	L	94	ENSP00000380444:R94L	ENSP00000380444:R94L	R	+	2	0	MYO9B	17073808	0.999000	0.42202	0.998000	0.56505	0.996000	0.88848	2.722000	0.47269	2.526000	0.85167	0.655000	0.94253	CGG		0.607	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			3	20	1	0	0.004672	0.004672	0.00512029	3	20				
UNC13A	23025	broad.mit.edu	37	19	17756920	17756920	+	Splice_Site	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:17756920A>T	ENST00000519716.2	-	18	2044	c.2045T>A	c.(2044-2046)gTg>gAg	p.V682E	UNC13A_ENST00000550896.1_Splice_Site_p.V680E|UNC13A_ENST00000551649.1_Splice_Site_p.V682E|UNC13A_ENST00000252773.7_Splice_Site_p.V682E|UNC13A_ENST00000552293.1_Splice_Site_p.V682E|UNC13A_ENST00000428389.2_Splice_Site_p.V770E	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	682	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.V682E(1)|p.V770E(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGCGCAGACCACTGGAAGACA	0.567																																							uc002nhd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2308-2310)GTG>GAG		unc-13 homolog A							63.0	62.0	62.0					19																	17756920		2090	4251	6341	SO:0001630	splice_region_variant	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17756920A>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2045-1T>A	19.37:g.17756920A>T							p.V770E	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			18	2309	-			682			C2 2.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2309T>A	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	A	18.84	3.708836	0.68615	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;-1.32;-1.32	3.47	3.47	0.39725	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000003	D	0.91226	0.7235	H	0.95004	3.61	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.92165	0.5739	10	0.87932	D	0	.	10.2361	0.43284	1.0:0.0:0.0:0.0	.	682	Q9UPW8	UN13A_HUMAN	E	682;770;682;682;682;680	ENSP00000429562:V682E;ENSP00000400409:V770E;ENSP00000252773:V682E;ENSP00000447236:V682E;ENSP00000447572:V682E;ENSP00000446831:V680E	ENSP00000252773:V682E	V	-	2	0	UNC13A	17617920	1.000000	0.71417	1.000000	0.80357	0.734000	0.41952	9.064000	0.93933	1.379000	0.46325	0.254000	0.18369	GTG		0.567	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	Missense_Mutation	3	18	0	0	0	0.009096	0	3	18				
GDF15	9518	broad.mit.edu	37	19	18499157	18499157	+	Silent	SNP	G	G	C	rs376223063		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:18499157G>C	ENST00000252809.3	+	2	371	c.339G>C	c.(337-339)ggG>ggC	p.G113G	MIR3189_ENST00000578735.1_RNA	NM_004864.2	NP_004855.2	Q99988	GDF15_HUMAN	growth differentiation factor 15	113					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)	p.G113G(1)		kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						TTCCCGAGGGGCTCCCCGAGG	0.701											OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002niv.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(337-339)GGG>GGC		growth differentiation factor 15							16.0	20.0	19.0					19																	18499157		2178	4280	6458	SO:0001819	synonymous_variant	9518				cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr19:18499157G>C	BC008962	CCDS12376.1	19p13.11	2008-05-14				ENSG00000130513			30142	protein-coding gene	gene with protein product	"""prostate differentiation factor"""	605312				11895857, 9593718	Standard	NM_004864		Approved	PLAB, MIC-1, PDF, MIC1, NAG-1, PTGFB	uc002niv.2	Q99988		ENST00000252809.3:c.339G>C	19.37:g.18499157G>C			OREG0025363	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	726		p.G113G	NM_004864	NP_004855	Q99988	GDF15_HUMAN			2	371	+			113					O14629|P78360|Q9BWA0|Q9NRT0	Silent	SNP	ENST00000252809.3	37	c.339G>C	CCDS12376.1																																																																																				0.701	GDF15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466340.2	NM_004864		3	21	0	0	0	0.004672	0	3	21				
TMEM59L	25789	broad.mit.edu	37	19	18729267	18729267	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:18729267C>T	ENST00000600490.1	+	8	1050	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L	TMEM59L_ENST00000262817.3_Silent_p.L289L			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	289						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L289L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CTGCTCCACCCTGGTGACCGC	0.677																																							uc002njy.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(865-867)CTG>TTG		brain-specific membrane-anchored protein							25.0	22.0	23.0					19																	18729267		2201	4300	6501	SO:0001819	synonymous_variant	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18729267C>T	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.865C>T	19.37:g.18729267C>T							p.L289L	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN			7	952	+			289			Helical; (Potential).			Silent	SNP	ENST00000600490.1	37	c.865C>T	CCDS12383.1																																																																																				0.677	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			3	12	0	0	0	0.004672	0	3	12				
ZNF90	7643	broad.mit.edu	37	19	20215049	20215049	+	Splice_Site	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:20215049G>C	ENST00000418063.2	+	2	117	c.5G>C	c.(4-6)gGa>gCa	p.G2A	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	2					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G2A(2)		breast(1)|lung(2)|ovary(1)|skin(1)	5						GTTTTTCAGGGACCATTGGAA	0.403																																							uc002nor.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(4-6)GGA>GCA		zinc finger protein 90																																				SO:0001630	splice_region_variant	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20215049G>C	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.4-1G>C	19.37:g.20215049G>C						ZNF90_uc002nos.1_RNA|ZNF90_uc002not.1_Intron	p.G2A	NM_007138	NP_009069	Q03938	ZNF90_HUMAN			2	144	+			2					B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	c.5G>C	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476025	0.26511	.	.	ENSG00000213988	ENST00000418063	T	0.00873	5.59	1.11	-1.21	0.09524	Krueppel-associated box (1);	.	.	.	.	T	0.02193	0.0068	M	0.77313	2.365	0.20307	N	0.999914	D	0.67145	0.996	P	0.51101	0.659	T	0.37056	-0.9722	9	0.59425	D	0.04	.	4.6624	0.12648	0.4683:0.0:0.5317:0.0	.	2	Q03938	ZNF90_HUMAN	A	2	ENSP00000410466:G2A	ENSP00000410466:G2A	G	+	2	0	ZNF90	20076049	0.024000	0.19004	0.031000	0.17742	0.062000	0.15995	-1.829000	0.01701	-0.320000	0.08640	0.184000	0.17185	GGA		0.403	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138	Missense_Mutation	7	72	0	0	0	0.001984	0	7	72				
ZNF676	163223	broad.mit.edu	37	19	22363427	22363427	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:22363427G>T	ENST00000397121.2	-	3	1409	c.1092C>A	c.(1090-1092)ccC>ccA	p.P364P		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	364					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.P364P(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CACATTTGTAGGGTTTCTCTC	0.388																																							uc002nqs.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1090-1092)CCC>CCA		zinc finger protein 676							71.0	77.0	75.0					19																	22363427		2164	4267	6431	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363427G>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1092C>A	19.37:g.22363427G>T							p.P364P	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1410	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	364					A8MVX5	Silent	SNP	ENST00000397121.2	37	c.1092C>A	CCDS42539.1																																																																																				0.388	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		9	53	1	0	3.09899e-07	0.004482	4.29859e-07	9	53				
ZNF99	7652	broad.mit.edu	37	19	22940689	22940689	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:22940689C>G	ENST00000596209.1	-	4	2112	c.2022G>C	c.(2020-2022)gaG>gaC	p.E674D	ZNF99_ENST00000397104.3_Missense_Mutation_p.E583D	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	674					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.E583D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTAGGGTTTCTCTTCAGTAT	0.363																																							uc010xrh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1747-1749)GAG>GAC		zinc finger protein 99							48.0	51.0	50.0					19																	22940689		2133	4256	6389	SO:0001583	missense	7652							g.chr19:22940689C>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2022G>C	19.37:g.22940689C>G	ENSP00000472969:p.Glu674Asp						p.E583D	NM_001080409	NP_001073878					5	1749	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1749G>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	6.812	0.518829	0.13005	.	.	ENSG00000213973	ENST00000397104	T	0.26810	1.71	1.29	1.29	0.21616	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15696	0.0378	N	0.25332	0.735	0.28363	N	0.920387	B	0.13594	0.008	B	0.21546	0.035	T	0.23797	-1.0178	9	0.56958	D	0.05	.	2.7993	0.05410	0.0:0.4839:0.3069:0.2092	.	583	A8MXY4	ZNF99_HUMAN	D	583	ENSP00000380293:E583D	ENSP00000380293:E583D	E	-	3	2	ZNF99	22732529	0.006000	0.16342	0.096000	0.21009	0.036000	0.12997	-0.270000	0.08584	0.680000	0.31366	0.400000	0.26472	GAG		0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		6	24	0	0	0	0.001168	0	6	24				
ZNF536	9745	broad.mit.edu	37	19	30935819	30935819	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:30935819C>A	ENST00000355537.3	+	2	1497	c.1350C>A	c.(1348-1350)agC>agA	p.S450R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	450					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.S450R(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGAGCCCAGCCAGCTCTATG	0.657																																							uc002nsu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1348-1350)AGC>AGA		zinc finger protein 536							25.0	28.0	27.0					19																	30935819		2199	4294	6493	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935819C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1350C>A	19.37:g.30935819C>A	ENSP00000347730:p.Ser450Arg					ZNF536_uc010edd.1_Missense_Mutation_p.S450R	p.S450R	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1488	+	Esophageal squamous(110;0.0834)		450					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1350C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.734488	0.00681	.	.	ENSG00000198597	ENST00000355537	T	0.08546	3.08	5.44	1.5	0.22942	.	0.703897	0.15877	N	0.240257	T	0.04679	0.0127	N	0.24115	0.695	0.26307	N	0.977884	B;B	0.23735	0.09;0.09	B;B	0.19148	0.024;0.024	T	0.43523	-0.9386	10	0.15499	T	0.54	-3.6024	6.5316	0.22330	0.0:0.5817:0.1454:0.2729	.	450;450	A7E228;O15090	.;ZN536_HUMAN	R	450	ENSP00000347730:S450R	ENSP00000347730:S450R	S	+	3	2	ZNF536	35627659	0.995000	0.38212	0.942000	0.38095	0.008000	0.06430	0.695000	0.25527	0.613000	0.30089	-0.282000	0.10007	AGC		0.657	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		7	19	1	0	0.000157383	0.00308	0.000192065	7	19				
ZNF536	9745	broad.mit.edu	37	19	30936301	30936301	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:30936301G>T	ENST00000355537.3	+	2	1979	c.1832G>T	c.(1831-1833)gGg>gTg	p.G611V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	611					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.G611V(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTGTCACACGGGCTGAACCAG	0.557																																							uc002nsu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1831-1833)GGG>GTG		zinc finger protein 536							95.0	104.0	101.0					19																	30936301		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936301G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1832G>T	19.37:g.30936301G>T	ENSP00000347730:p.Gly611Val					ZNF536_uc010edd.1_Missense_Mutation_p.G611V	p.G611V	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1970	+	Esophageal squamous(110;0.0834)		611					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1832G>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	7.854	0.724692	0.15439	.	.	ENSG00000198597	ENST00000355537	T	0.42131	0.98	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.40322	0.1112	L	0.36672	1.1	0.80722	D	1	P;D	0.54397	0.875;0.966	B;P	0.47299	0.307;0.543	T	0.25293	-1.0136	10	0.56958	D	0.05	-34.4253	13.0562	0.58982	0.0735:0.0:0.9265:0.0	.	611;611	A7E228;O15090	.;ZN536_HUMAN	V	611	ENSP00000347730:G611V	ENSP00000347730:G611V	G	+	2	0	ZNF536	35628141	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	6.234000	0.72326	2.659000	0.90383	0.655000	0.94253	GGG		0.557	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		12	94	1	0	1.61879e-10	0.001368	2.53391e-10	12	94				
TSHZ3	57616	broad.mit.edu	37	19	31767930	31767930	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:31767930G>T	ENST00000240587.4	-	2	3096	c.2769C>A	c.(2767-2769)atC>atA	p.I923I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	923					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I740I(1)|p.I923I(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGTCTGACATGATGTACTTCC	0.607																																							uc002nsy.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(2767-2769)ATC>ATA		zinc finger protein 537							48.0	47.0	47.0					19																	31767930		2203	4300	6503	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31767930G>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2769C>A	19.37:g.31767930G>T							p.I923I	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	2834	-	Esophageal squamous(110;0.226)		923			Homeobox; atypical.		Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.2769C>A	CCDS12421.2																																																																																				0.607	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		3	27	1	0	0.00909568	0.009096	0.00987956	3	27				
TSHZ3	57616	broad.mit.edu	37	19	31768285	31768285	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:31768285G>T	ENST00000240587.4	-	2	2741	c.2414C>A	c.(2413-2415)tCa>tAa	p.S805*		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	805					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S622*(1)|p.S805*(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CAGAAGCACTGAACCCAAGGA	0.542																																							uc002nsy.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(2413-2415)TCA>TAA		zinc finger protein 537							107.0	89.0	95.0					19																	31768285		2203	4300	6503	SO:0001587	stop_gained	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31768285G>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.2414C>A	19.37:g.31768285G>T	ENSP00000240587:p.Ser805*						p.S805*	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	2479	-	Esophageal squamous(110;0.226)		805					Q9H0G6|Q9P254	Nonsense_Mutation	SNP	ENST00000240587.4	37	c.2414C>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	41	8.850941	0.98978	.	.	ENSG00000121297	ENST00000240587	.	.	.	5.52	5.52	0.82312	.	0.067258	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.1006	19.4311	0.94768	0.0:0.0:1.0:0.0	.	.	.	.	X	805	.	ENSP00000240587:S805X	S	-	2	0	TSHZ3	36460125	1.000000	0.71417	0.995000	0.50966	0.761000	0.43186	9.441000	0.97557	2.582000	0.87167	0.655000	0.94253	TCA		0.542	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		9	34	1	0	1.12685e-05	0.004482	1.47621e-05	9	34				
USF2	7392	broad.mit.edu	37	19	35769860	35769860	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:35769860G>T	ENST00000222305.3	+	9	871	c.834G>T	c.(832-834)ggG>ggT	p.G278G	HAMP_ENST00000598398.1_5'Flank|USF2_ENST00000600341.1_3'UTR|USF2_ENST00000595068.1_Intron|USF2_ENST00000343550.5_Silent_p.G211G|USF2_ENST00000379134.3_Silent_p.G147G|USF2_ENST00000594064.1_Silent_p.G276G	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	278	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				lactation (GO:0007595)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G278G(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTAAAGGAGGGATCCTGTCCA	0.652																																					NSCLC(103;173 2832 8890)	NSCLC(103;173 2832 8890)	uc002nyq.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(832-834)GGG>GGT		upstream stimulatory factor 2 isoform 1							56.0	55.0	56.0					19																	35769860		2202	4300	6502	SO:0001819	synonymous_variant	7392				lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:35769860G>T	AY007087	CCDS12452.1, CCDS12453.1	19q13	2013-05-21				ENSG00000105698		"""Basic helix-loop-helix proteins"""	12594	protein-coding gene	gene with protein product		600390				8954795	Standard	NM_003367		Approved	FIP, bHLHb12	uc002nyq.1	Q15853		ENST00000222305.3:c.834G>T	19.37:g.35769860G>T						USF2_uc010xss.1_Silent_p.G278G|USF2_uc002nyr.1_Silent_p.G211G|USF2_uc002nys.1_Silent_p.G80G|USF2_uc002nyt.1_Silent_p.G147G|USF2_uc002nyu.1_Silent_p.G80G|USF2_uc002nyv.1_Intron	p.G278G	NM_003367	NP_003358	Q15853	USF2_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		9	943	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		278			Helix-loop-helix motif.		O00671|O00709|Q05750|Q07952|Q15851|Q15852|Q6FI33|Q6YI47	Silent	SNP	ENST00000222305.3	37	c.834G>T	CCDS12452.1																																																																																				0.652	USF2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466056.1	NM_003367		12	36	1	0	2.80697e-09	0.000978	4.19611e-09	12	36				
FFAR3	2865	broad.mit.edu	37	19	35850521	35850521	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:35850521G>T	ENST00000327809.4	+	2	930	c.729G>T	c.(727-729)gtG>gtT	p.V243V	FFAR3_ENST00000594310.1_Silent_p.V243V	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	243					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.V243V(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCTACAACGTGTCCCATGTCG	0.627																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	Esophageal Squamous(185;1742 2042 21963 24215 27871)	uc002nzd.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(727-729)GTG>GTT		free fatty acid receptor 3							186.0	139.0	155.0					19																	35850521		2201	4298	6499	SO:0001819	synonymous_variant	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850521G>T	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.729G>T	19.37:g.35850521G>T						FFAR3_uc010xsu.1_Intron	p.V243V	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	804	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		243			Helical; Name=6; (Potential).		B2RWM8|Q14CM7	Silent	SNP	ENST00000327809.4	37	c.729G>T	CCDS12459.1																																																																																				0.627	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	NM_005304		13	178	1	0	9.05144e-12	0.001855	1.47692e-11	13	178				
IGFLR1	79713	broad.mit.edu	37	19	36230816	36230816	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:36230816G>A	ENST00000592537.1	-	4	616	c.516C>T	c.(514-516)acC>acT	p.T172T	IGFLR1_ENST00000587101.1_5'UTR|IGFLR1_ENST00000588992.1_Intron|IGFLR1_ENST00000592889.1_Intron|IGFLR1_ENST00000344990.3_Intron|AD000671.6_ENST00000589807.1_3'UTR|KMT2B_ENST00000607650.1_RNA|IGFLR1_ENST00000246532.1_Silent_p.T172T			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T172T(1)		endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						TCACCGCCAAGGTCAGGAGCA	0.602																																							uc002obc.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(514-516)ACC>ACT		transmembrane protein 149 precursor							84.0	80.0	81.0					19																	36230816		2203	4300	6503	SO:0001819	synonymous_variant	79713					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:36230816G>A	AK026226	CCDS12472.1	19q13.12	2012-10-02	2011-04-04	2011-04-04	ENSG00000126246	ENSG00000126246			23620	protein-coding gene	gene with protein product		614143	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 4"", ""transmembrane protein 149"""	U2AF1L4, TMEM149		21454693	Standard	NM_024660		Approved	FLJ22573	uc002obd.4	Q9H665		ENST00000592537.1:c.516C>T	19.37:g.36230816G>A						TMEM149_uc002obb.2_Intron|TMEM149_uc002obd.3_Silent_p.T172T|TMEM149_uc010xsy.1_RNA|TMEM149_uc010eej.2_Silent_p.T252T	p.T172T	NM_024660	NP_078936	Q9H665	IGFR1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	617	-	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		172			Helical; (Potential).		Q8N5X0	Silent	SNP	ENST00000592537.1	37	c.516C>T	CCDS12472.1																																																																																				0.602	IGFLR1-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459077.1	NM_024660		16	59	0	0	0	0.003163	0	16	59				
ZNF585B	92285	broad.mit.edu	37	19	37676140	37676140	+	Missense_Mutation	SNP	T	T	A	rs149106602		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:37676140T>A	ENST00000532828.2	-	5	2550	c.2299A>T	c.(2299-2301)Agc>Tgc	p.S767C	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.S355C|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S712C|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	767					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S767C(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAAGCGTGGCTGCTCTGATGA	0.448																																					Melanoma(93;882 1454 18863 28917 48427)	Melanoma(93;882 1454 18863 28917 48427)	uc002ofq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2299-2301)AGC>TGC		zinc finger protein 585B							135.0	120.0	125.0					19																	37676140		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37676140T>A	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.2299A>T	19.37:g.37676140T>A	ENSP00000433773:p.Ser767Cys					uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.S581C	p.S767C	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2553	-			767			C2H2-type 21.		Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.2299A>T	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	T	9.894	1.205122	0.22205	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.08984	3.03;3.12;3.06	2.72	0.372	0.16173	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.946361	0.08630	N	0.917168	T	0.07007	0.0178	L	0.38733	1.17	0.18873	N	0.999983	B;B	0.28713	0.22;0.118	B;B	0.25987	0.053;0.065	T	0.39333	-0.9619	10	0.87932	D	0	.	4.628	0.12488	0.0:0.1205:0.3737:0.5058	.	712;767	E9PQH3;Q52M93	.;Z585B_HUMAN	C	712;767;355	ENSP00000436774:S712C;ENSP00000433773:S767C;ENSP00000442139:S355C	ENSP00000442139:S355C	S	-	1	0	ZNF585B	42367980	0.000000	0.05858	0.002000	0.10522	0.038000	0.13279	0.038000	0.13862	-0.117000	0.11872	0.254000	0.18369	AGC		0.448	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		17	80	0	0	0	0.006122	0	17	80				
CYP2B7P	1556	broad.mit.edu	37	19	41447305	41447306	+	RNA	DNP	GA	GA	TG			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	GA	GA	-	-	GA	GA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:41447305_41447306GA>TG	ENST00000599198.1	+	0	804_805					NR_001278.1													p.E250_K251>DE(1)		NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						ACAGTGTGGAGAAGCACCGTGA	0.52																																							uc010ehh.1		NA																	1	Complex - compound substitution(1)		lung(1)	ovary(1)|skin(1)	2						c.(748-753)GAGAAG>GATGAG		SubName: Full=Cytochrome P450, family 2, subfamily B, polypeptide 6;																																						1556							g.chr19:41447305_41447306GA>TG																												Exception_encountered	19.37:g.41447305_41447306delinsTG						CYP2A7_uc002opo.2_Intron|CYP2B7P1_uc002opq.2_RNA	p.250_251EK>DE							5	758_759	+									Missense_Mutation	DNP	ENST00000599198.1	37	c.750_751GA>TG																																																																																					0.520	CYP2B7P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000465180.1			10	88	0	0	0	0.004672	0	10	88				
CYP2F1	1572	broad.mit.edu	37	19	41622111	41622111	+	Silent	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:41622111A>T	ENST00000331105.2	+	2	90	c.18A>T	c.(16-18)acA>acT	p.T6T		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	6					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.T6T(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GCATAAGCACAGCCATCTTAC	0.577																																							uc002opu.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(16-18)ACA>ACT		cytochrome P450, family 2, subfamily F,							130.0	107.0	115.0					19																	41622111		2203	4300	6503	SO:0001819	synonymous_variant	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41622111A>T	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.18A>T	19.37:g.41622111A>T						CYP2F1_uc010xvw.1_Intron|CYP2F1_uc010xvv.1_Silent_p.T6T|CYP2F1_uc002opv.1_RNA	p.T6T	NM_000774	NP_000765	P24903	CP2F1_HUMAN			2	74	+			6					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	c.18A>T	CCDS12572.1																																																																																				0.577	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			18	85	0	0	0	0.006122	0	18	85				
PSG5	5673	broad.mit.edu	37	19	43679578	43679578	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:43679578G>A	ENST00000366175.3	-	4	883	c.753C>T	c.(751-753)taC>taT	p.Y251Y	PSG5_ENST00000407356.1_Silent_p.Y251Y|PSG5_ENST00000342951.6_Silent_p.Y251Y|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000599812.1_Silent_p.Y344Y|PSG5_ENST00000404580.1_Silent_p.Y251Y			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	251	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.Y251Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CTCCTGAACGGTAATAGGTGA	0.478																																							uc002ovu.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(751-753)TAC>TAT		pregnancy specific beta-1-glycoprotein 5							146.0	160.0	155.0					19																	43679578		2202	4295	6497	SO:0001819	synonymous_variant	5673				female pregnancy	extracellular region		g.chr19:43679578G>A		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.753C>T	19.37:g.43679578G>A						PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Silent_p.Y126Y|PSG5_uc002ovx.2_Silent_p.Y251Y|PSG5_uc002ovv.2_Silent_p.Y344Y|PSG5_uc002ovw.2_Intron	p.Y251Y	NM_002781	NP_002772	Q15238	PSG5_HUMAN			4	884	-		Prostate(69;0.00899)	251			Ig-like C2-type 2.		Q15239|Q96QJ1|Q9UQ75	Silent	SNP	ENST00000366175.3	37	c.753C>T	CCDS12617.1																																																																																				0.478	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		22	170	0	0	0	0.010504	0	22	170				
SIX5	147912	broad.mit.edu	37	19	46270388	46270388	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:46270388C>G	ENST00000317578.6	-	2	1210	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA|SIX5_ENST00000560168.1_3'UTR	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	277					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.E277Q(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GACTCGTCCTCAGTCGTGGGA	0.677																																							uc002pdb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(829-831)GAG>CAG		SIX homeobox 5							17.0	19.0	18.0					19																	46270388		2189	4264	6453	SO:0001583	missense	147912					cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:46270388C>G	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.829G>C	19.37:g.46270388C>G	ENSP00000316842:p.Glu277Gln					SIX5_uc002pdc.2_Intron	p.E277Q	NM_175875	NP_787071	Q8N196	SIX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)	2	1224	-		Ovarian(192;0.0308)|all_neural(266;0.112)	277						Missense_Mutation	SNP	ENST00000317578.6	37	c.829G>C	CCDS12673.1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.823253	0.90873	.	.	ENSG00000177045	ENST00000317578	D	0.91124	-2.79	4.83	4.83	0.62350	.	0.797746	0.11174	N	0.591627	D	0.92795	0.7709	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91123	0.4931	10	0.56958	D	0.05	-16.4711	15.3923	0.74755	0.0:1.0:0.0:0.0	.	277	Q8N196	SIX5_HUMAN	Q	277	ENSP00000316842:E277Q	ENSP00000316842:E277Q	E	-	1	0	SIX5	50962228	1.000000	0.71417	0.764000	0.31436	0.897000	0.52465	7.286000	0.78671	2.211000	0.71520	0.561000	0.74099	GAG		0.677	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875		3	19	0	0	0	0.004672	0	3	19				
TPRX1	284355	broad.mit.edu	37	19	48305217	48305217	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:48305217G>A	ENST00000322175.3	-	2	1206	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S	TPRX1_ENST00000535759.1_Missense_Mutation_p.P448S|TPRX1_ENST00000543508.1_Missense_Mutation_p.P341S	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	351						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P351S(1)|p.P351T(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GTGAAGTGAGGGAATAACTGG	0.592																																					Esophageal Squamous(123;175 2281 3051 32395)	Esophageal Squamous(123;175 2281 3051 32395)	uc002php.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1051-1053)CCT>TCT		tetra-peptide repeat homeobox							95.0	97.0	96.0					19																	48305217		2203	4300	6503	SO:0001583	missense	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48305217G>A		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.1051C>T	19.37:g.48305217G>A	ENSP00000323455:p.Pro351Ser						p.P351S	NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	2	1122	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	351					A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	c.1051C>T	CCDS33066.1	.	.	.	.	.	.	.	.	.	.	g	11.14	1.550349	0.27739	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D	0.94184	-2.22;-3.37	1.11	1.11	0.20524	.	.	.	.	.	D	0.89248	0.6661	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	P	0.59889	0.865	T	0.80266	-0.1454	9	0.87932	D	0	.	5.5783	0.17235	0.0:0.0:1.0:0.0	.	351	Q8N7U7	TPRX1_HUMAN	S	351;448;341	ENSP00000323455:P351S;ENSP00000438832:P448S	ENSP00000323455:P351S	P	-	1	0	TPRX1	52997029	0.006000	0.16342	0.002000	0.10522	0.007000	0.05969	1.375000	0.34295	0.923000	0.37045	0.313000	0.20887	CCT		0.592	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		15	52	0	0	0	0.003163	0	15	52				
NUP62	23636	broad.mit.edu	37	19	50411625	50411625	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:50411625C>A	ENST00000596217.1	-	2	3327	c.1440G>T	c.(1438-1440)gcG>gcT	p.A480A	NUP62_ENST00000422090.2_Silent_p.A480A|IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000600583.1_5'Flank|NUP62_ENST00000597029.1_Silent_p.A480A|NUP62_ENST00000413454.1_Silent_p.A480A|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000352066.3_Silent_p.A480A|NUP62_ENST00000597723.1_Silent_p.A404A			P37198	NUP62_HUMAN	nucleoporin 62kDa	480					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|hormone-mediated signaling pathway (GO:0009755)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of programmed cell death (GO:0043069)|negative regulation of Ras protein signal transduction (GO:0046580)|nucleocytoplasmic transport (GO:0006913)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of Ras protein signal transduction (GO:0046578)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleocytoplasmic shuttling complex (GO:0031074)|pore complex (GO:0046930)|ribonucleoprotein complex (GO:0030529)	chromatin binding (GO:0003682)|receptor signaling complex scaffold activity (GO:0030159)|SH2 domain binding (GO:0042169)|structural constituent of nuclear pore (GO:0017056)|thyroid hormone receptor binding (GO:0046966)|ubiquitin binding (GO:0043130)	p.A480A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGTCCATGTGCGCATTGAGGA	0.627																																							uc002pqx.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1438-1440)GCG>GCT		nucleoporin 62kDa							142.0	131.0	134.0					19																	50411625		2203	4300	6503	SO:0001819	synonymous_variant	23636				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	g.chr19:50411625C>A	X58521	CCDS12788.1	19q13.33	2013-09-20	2002-08-29		ENSG00000213024	ENSG00000213024			8066	protein-coding gene	gene with protein product	"""nuclear pore glycoprotein p62"""	605815	"""nucleoporin 62kD"""			1915414	Standard	NM_016553		Approved	p62, DKFZp547L134, IBSN, SNDI, MGC841, FLJ20822, FLJ43869	uc002pqx.3	P37198	OTTHUMG00000183077	ENST00000596217.1:c.1440G>T	19.37:g.50411625C>A						IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron|NUP62_uc002pqy.2_Silent_p.A480A|NUP62_uc002pqz.2_Silent_p.A480A|NUP62_uc002pra.2_Silent_p.A480A|NUP62_uc002prb.2_Silent_p.A480A|NUP62_uc002prc.2_Silent_p.A404A	p.A480A	NM_153719	NP_714941	P37198	NUP62_HUMAN		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	1544	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	480					B3KWU5|Q503A4|Q6GTM2|Q96C43|Q9NSL1	Silent	SNP	ENST00000596217.1	37	c.1440G>T	CCDS12788.1																																																																																				0.627	NUP62-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464991.1	NM_153719		15	110	1	0	3.41278e-10	0.00499	5.2743e-10	15	110				
KLK13	26085	broad.mit.edu	37	19	51560016	51560016	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:51560016G>A	ENST00000595793.1	-	5	704	c.662C>T	c.(661-663)cCc>cTc	p.P221L	KLK13_ENST00000595547.1_Missense_Mutation_p.P148L|KLK13_ENST00000335422.3_Missense_Mutation_p.P69L	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	221	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)	p.P221L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		ACAGACCAGGGGGCCCCCAGA	0.582																																							uc002pvn.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(661-663)CCC>CTC		kallikrein 13 precursor							53.0	57.0	56.0					19																	51560016		2203	4300	6503	SO:0001583	missense	26085				proteolysis		protein binding|serine-type endopeptidase activity	g.chr19:51560016G>A		CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.662C>T	19.37:g.51560016G>A	ENSP00000470555:p.Pro221Leu					KLK13_uc002pvl.2_RNA|KLK13_uc002pvm.2_RNA|KLK13_uc002pvo.2_RNA|KLK13_uc002pvp.2_RNA|KLK13_uc010eon.2_Missense_Mutation_p.P148L|KLK13_uc002pvq.2_RNA|KLK13_uc010eoo.2_Missense_Mutation_p.P69L	p.P221L	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)	5	705	-		all_neural(266;0.026)	221			Peptidase S1.		A7UNK6|Q86VI8|Q9Y433	Missense_Mutation	SNP	ENST00000595793.1	37	c.662C>T	CCDS12822.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.588040	0.66105	.	.	ENSG00000167759	ENST00000156476;ENST00000335422	D	0.98684	-5.07	4.41	4.41	0.53225	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.48767	D	0.000172	D	0.99414	0.9793	H	0.96805	3.885	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;0.996;1.0	D	0.98204	1.0469	10	0.87932	D	0	.	14.9237	0.70859	0.0:0.0:1.0:0.0	.	69;148;221	Q86VI8;Q86VI7;Q9UKR3	.;.;KLK13_HUMAN	L	221;69	ENSP00000334079:P69L	ENSP00000156476:P221L	P	-	2	0	KLK13	56251828	1.000000	0.71417	0.999000	0.59377	0.520000	0.34377	8.315000	0.89983	2.467000	0.83353	0.597000	0.82753	CCC		0.582	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464298.2	NM_015596		8	42	0	0	0	0.00308	0	8	42				
SIGLEC5	8778	broad.mit.edu	37	19	52132731	52132731	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:52132731G>T	ENST00000534261.2	-	4	979	c.580C>A	c.(580-582)Cgc>Agc	p.R194S	SIGLEC5_ENST00000599649.1_Missense_Mutation_p.R194S|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.R194S|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.R194S|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.R194S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	194	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R194S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCCGAGGAGCGGGTGGTCTCG	0.637																																							uc002pxe.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)|central_nervous_system(1)	4						c.(580-582)CGC>AGC		sialic acid binding Ig-like lectin 5 precursor							24.0	24.0	24.0					19																	52132731		2202	4295	6497	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52132731G>T	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.580C>A	19.37:g.52132731G>T	ENSP00000473238:p.Arg194Ser						p.R194S	NM_003830	NP_003821	O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	3	719	-		all_neural(266;0.0726)	194			Extracellular (Potential).|Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000534261.2	37	c.580C>A	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	G	5.342	0.248340	0.10130	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.21932	1.98;1.98	3.69	-1.78	0.07957	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	3.437520	0.00792	N	0.001356	T	0.12135	0.0295	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.12811	-1.0533	10	0.22706	T	0.39	.	0.5753	0.00702	0.2247:0.1671:0.3655:0.2427	.	194	O15389	SIGL5_HUMAN	S	194	ENSP00000222107:R194S;ENSP00000415200:R194S	ENSP00000222107:R194S	R	-	1	0	SIGLEC5	56824543	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.279000	0.00261	-0.343000	0.08351	-0.325000	0.08501	CGC		0.637	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		5	25	1	0	0.000602214	0.000602	0.000706611	5	25				
ZNF432	9668	broad.mit.edu	37	19	52538203	52538203	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:52538203G>T	ENST00000594154.1	-	5	941	c.729C>A	c.(727-729)tcC>tcA	p.S243S	ZNF432_ENST00000221315.5_Silent_p.S243S			O94892	ZN432_HUMAN	zinc finger protein 432	243					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.S243S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGGACTTTCTGGAGAACACTT	0.388																																							uc002pyk.2		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)|pancreas(1)	3						c.(727-729)TCC>TCA		zinc finger protein 432							108.0	113.0	111.0					19																	52538203		2203	4300	6503	SO:0001819	synonymous_variant	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52538203G>T	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.729C>A	19.37:g.52538203G>T							p.S243S	NM_014650	NP_055465	O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	1047	-		all_neural(266;0.117)	243			C2H2-type 2.			Silent	SNP	ENST00000594154.1	37	c.729C>A	CCDS12848.1																																																																																				0.388	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		24	135	1	0	4.59853e-10	0.005443	7.03248e-10	24	135				
ZNF841	284371	broad.mit.edu	37	19	52569171	52569171	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:52569171C>G	ENST00000426391.2	-	5	2167	c.1616G>C	c.(1615-1617)tGt>tCt	p.C539S	ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000389534.4_Missense_Mutation_p.C655S|ZNF841_ENST00000594295.1_Missense_Mutation_p.C655S|ZNF432_ENST00000598446.1_Intron|CTC-471J1.2_ENST00000569091.1_RNA			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	539					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.C655S(2)|p.C96S(1)		breast(1)|endometrium(4)|kidney(3)|lung(3)	11						ACAATCATTACATTTATAAGG	0.423																																							uc002pyl.1		NA																	3	Substitution - Missense(3)		lung(3)		0						c.(1615-1617)TGT>TCT		zinc finger protein 841							103.0	97.0	99.0					19																	52569171		692	1591	2283	SO:0001583	missense	284371				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52569171C>G	AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1616G>C	19.37:g.52569171C>G	ENSP00000415453:p.Cys539Ser					ZNF841_uc010ydh.1_Missense_Mutation_p.C655S|ZNF841_uc010epk.1_Intron	p.C539S	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN			5	2168	-			539			C2H2-type 15.		B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	ENST00000426391.2	37	c.1616G>C		.	.	.	.	.	.	.	.	.	.	C	23.6	4.430007	0.83776	.	.	ENSG00000197608	ENST00000389534;ENST00000426391	D;D	0.85171	-1.95;-1.95	1.87	1.87	0.25490	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92665	0.7669	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.999;1.0	D	0.92839	0.6287	9	0.87932	D	0	.	10.7294	0.46087	0.0:1.0:0.0:0.0	.	655;539	Q6ZN19-3;Q6ZN19	.;ZN841_HUMAN	S	655;539	ENSP00000374185:C655S;ENSP00000415453:C539S	ENSP00000374185:C655S	C	-	2	0	ZNF841	57260983	0.814000	0.29104	0.005000	0.12908	0.928000	0.56348	1.732000	0.38146	1.019000	0.39547	0.313000	0.20887	TGT		0.423	ZNF841-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000462435.1	XM_209155		14	87	0	0	0	0.001855	0	14	87				
ZNF836	162962	broad.mit.edu	37	19	52663757	52663757	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:52663757C>T	ENST00000322146.8	-	4	624	c.103G>A	c.(103-105)Gat>Aat	p.D35N	ZNF836_ENST00000597252.1_Missense_Mutation_p.D35N|ZNF836_ENST00000597065.1_Missense_Mutation_p.D35N|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D35N(2)		endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AACATCACATCCCAGTACAAA	0.433																																							uc010ydi.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(103-105)GAT>AAT		zinc finger protein 836							115.0	122.0	120.0					19																	52663757		2203	4300	6503	SO:0001583	missense	162962				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52663757C>T	BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.103G>A	19.37:g.52663757C>T	ENSP00000325038:p.Asp35Asn					ZNF836_uc010ydj.1_Missense_Mutation_p.D35N	p.D35N	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN			4	477	-			35			KRAB.			Missense_Mutation	SNP	ENST00000322146.8	37	c.103G>A	CCDS46162.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.054843	0.55325	.	.	ENSG00000196267	ENST00000322146	T	0.02498	4.27	2.06	2.06	0.26882	Krueppel-associated box (4);	.	.	.	.	T	0.12475	0.0303	M	0.78637	2.42	0.21499	N	0.999663	D	0.69078	0.997	D	0.77004	0.989	T	0.06075	-1.0847	9	0.38643	T	0.18	.	9.7047	0.40209	0.0:1.0:0.0:0.0	.	35	Q6ZNA1	ZN836_HUMAN	N	35	ENSP00000325038:D35N	ENSP00000325038:D35N	D	-	1	0	ZNF836	57355569	0.000000	0.05858	0.893000	0.35052	0.938000	0.57974	0.171000	0.16685	1.125000	0.41998	0.491000	0.48974	GAT		0.433	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462456.1	NM_001102657		16	84	0	0	0	0.004007	0	16	84				
ZNF534	147658	broad.mit.edu	37	19	52941164	52941164	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:52941164A>C	ENST00000332323.6	+	4	551	c.490A>C	c.(490-492)Agt>Cgt	p.S164R	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.S151R	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	164					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.S164R(1)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						AGTTCAAATAAGTTTTTTCAG	0.323																																							uc002pzk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(490-492)AGT>CGT		zinc finger protein 534 isoform 2							82.0	75.0	77.0					19																	52941164		1568	3582	5150	SO:0001583	missense	147658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52941164A>C	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.490A>C	19.37:g.52941164A>C	ENSP00000327538:p.Ser164Arg					ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.S151R	p.S164R	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN			4	551	+			164					Q76KX9	Missense_Mutation	SNP	ENST00000332323.6	37	c.490A>C	CCDS46165.1	.	.	.	.	.	.	.	.	.	.	A	10.49	1.364031	0.24684	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.07114	3.22;3.27	1.61	1.61	0.23674	.	.	.	.	.	T	0.05410	0.0143	L	0.38692	1.165	0.09310	N	1	B;P	0.41102	0.002;0.738	B;B	0.32624	0.001;0.149	T	0.35525	-0.9785	9	0.56958	D	0.05	.	3.7291	0.08485	0.6629:0.0:0.0:0.337	.	151;164	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	R	164;151;163	ENSP00000327538:S164R;ENSP00000391358:S151R	ENSP00000327538:S164R	S	+	1	0	ZNF534	57632976	0.001000	0.12720	0.003000	0.11579	0.164000	0.22412	0.753000	0.26376	0.712000	0.32039	0.164000	0.16699	AGT		0.323	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460877.1	NM_182512		9	42	0	0	0	0.004482	0	9	42				
ZNF813	126017	broad.mit.edu	37	19	53995126	53995126	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:53995126G>C	ENST00000396403.4	+	4	1768	c.1640G>C	c.(1639-1641)gGa>gCa	p.G547A	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	547					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.G547A(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CTTCATACTGGAGATAAACCT	0.378																																							uc002qbu.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1639-1641)GGA>GCA		zinc finger protein 813							48.0	51.0	50.0					19																	53995126		2198	4297	6495	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53995126G>C	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1640G>C	19.37:g.53995126G>C	ENSP00000379684:p.Gly547Ala					ZNF813_uc010eqq.1_Intron	p.G547A	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	1768	+			547						Missense_Mutation	SNP	ENST00000396403.4	37	c.1640G>C	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	g	10.33	1.320254	0.23994	.	.	ENSG00000198346	ENST00000396403	T	0.26373	1.74	1.32	1.32	0.21799	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28200	0.0696	L	0.56199	1.76	0.80722	D	1	B	0.31859	0.343	B	0.39738	0.308	T	0.13202	-1.0518	9	0.66056	D	0.02	.	9.1468	0.36937	0.0:0.0:1.0:0.0	.	547	Q6ZN06	ZN813_HUMAN	A	547	ENSP00000379684:G547A	ENSP00000379684:G547A	G	+	2	0	ZNF813	58686938	0.994000	0.37717	0.115000	0.21578	0.057000	0.15508	2.184000	0.42575	0.461000	0.27071	0.197000	0.17608	GGA		0.378	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		9	20	0	0	0	0.004482	0	9	20				
U2AF2	11338	broad.mit.edu	37	19	56173908	56173908	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:56173908G>T	ENST00000308924.4	+	6	567	c.527G>T	c.(526-528)gGg>gTg	p.G176V	CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000450554.2_Missense_Mutation_p.G176V|U2AF2_ENST00000590551.1_Missense_Mutation_p.G12V|CTD-2537I9.12_ENST00000589456.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	176	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G176E(1)|p.G176V(1)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		ATGCGCCTGGGGGGGCTGACC	0.607																																							uc002qlu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(526-528)GGG>GTG		U2 (RNU2) small nuclear RNA auxiliary factor 2							40.0	48.0	45.0					19																	56173908		2203	4300	6503	SO:0001583	missense	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56173908G>T	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.527G>T	19.37:g.56173908G>T	ENSP00000307863:p.Gly176Val					U2AF2_uc002qlt.2_Missense_Mutation_p.G176V	p.G176V	NM_007279	NP_009210	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	6	1582	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	176			RRM 1.		Q96HC5	Missense_Mutation	SNP	ENST00000308924.4	37	c.527G>T	CCDS12933.1	.	.	.	.	.	.	.	.	.	.	G	8.764	0.924203	0.18056	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.11604	2.76;2.76	4.13	3.06	0.35304	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.04998	0.0134	N	0.05441	-0.05	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.34477	-0.9827	10	0.11182	T	0.66	-22.3889	11.8012	0.52128	0.0965:0.0:0.9035:0.0	.	176;176	P26368;P26368-2	U2AF2_HUMAN;.	V	176	ENSP00000307863:G176V;ENSP00000388475:G176V	ENSP00000307863:G176V	G	+	2	0	U2AF2	60865720	1.000000	0.71417	0.984000	0.44739	0.967000	0.64934	7.171000	0.77595	2.023000	0.59567	0.585000	0.79938	GGG		0.607	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		5	53	1	0	0.00116845	0.001168	0.00134087	5	53				
NLRP13	126204	broad.mit.edu	37	19	56424218	56424218	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:56424218C>G	ENST00000342929.3	-	5	964	c.965G>C	c.(964-966)cGc>cCc	p.R322P	NLRP13_ENST00000588751.1_Missense_Mutation_p.R322P	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	322	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.R322P(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCTCTCAGAGCGTGACTCAGA	0.463																																							uc010ygg.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(964-966)CGC>CCC		NACHT, leucine rich repeat and PYD containing							83.0	82.0	82.0					19																	56424218		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56424218C>G	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.965G>C	19.37:g.56424218C>G	ENSP00000343891:p.Arg322Pro						p.R322P	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	5	990	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	322			NACHT.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.965G>C	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	3.889	-0.024397	0.07634	.	.	ENSG00000173572	ENST00000342929	T	0.77750	-1.12	1.33	1.33	0.21861	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.59088	0.2168	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.49916	-0.8888	9	0.46703	T	0.11	.	6.4121	0.21696	0.0:1.0:0.0:0.0	.	322	Q86W25	NAL13_HUMAN	P	322	ENSP00000343891:R322P	ENSP00000343891:R322P	R	-	2	0	NLRP13	61116030	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.811000	0.01728	0.585000	0.29608	0.591000	0.81541	CGC		0.463	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		13	53	0	0	0	0.001368	0	13	53				
ZNF470	388566	broad.mit.edu	37	19	57089368	57089368	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr19:57089368T>A	ENST00000330619.8	+	6	2257	c.1571T>A	c.(1570-1572)cTc>cAc	p.L524H	ZNF470_ENST00000391709.3_Missense_Mutation_p.L524H|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	524					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.L524H(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AATGCACACCTCGCGCAACAT	0.463																																							uc002qnl.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1570-1572)CTC>CAC		zinc finger protein 470							68.0	68.0	68.0					19																	57089368		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089368T>A	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1571T>A	19.37:g.57089368T>A	ENSP00000333223:p.Leu524His					ZNF470_uc010etn.2_Intron	p.L524H	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2247	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	524			C2H2-type 11.		A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1571T>A	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.498790	0.44455	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.54071	0.59;0.59	4.37	4.37	0.52481	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.78483	0.4290	M	0.93978	3.48	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	T	0.71464	-0.4585	9	0.87932	D	0	.	12.6887	0.56962	0.0:0.0:0.0:1.0	.	524	Q6ECI4	ZN470_HUMAN	H	524	ENSP00000375590:L524H;ENSP00000333223:L524H	ENSP00000333223:L524H	L	+	2	0	ZNF470	61781180	0.325000	0.24660	0.916000	0.36221	0.902000	0.53008	1.913000	0.39956	1.843000	0.53566	0.528000	0.53228	CTC		0.463	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		11	40	0	0	0	0.008291	0	11	40				
TMEM18	129787	broad.mit.edu	37	2	675509	675509	+	Splice_Site	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:675509C>A	ENST00000281017.3	-	2	272		c.e2+1		TMEM18_ENST00000355654.2_Splice_Site|AC092159.2_ENST00000445418.1_RNA|TMEM18_ENST00000405941.3_Splice_Site	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18						cell migration (GO:0016477)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)	p.?(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		GTTTTACTCACCTAGACACAG	0.468																																							uc002qwl.2		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e2+1		transmembrane protein 18							140.0	126.0	131.0					2																	675509		2203	4300	6503	SO:0001630	splice_region_variant	129787				cell migration	integral to membrane|nuclear membrane		g.chr2:675509C>A	AL137269	CCDS33141.1	2p25.3	2008-02-05			ENSG00000151353	ENSG00000151353			25257	protein-coding gene	gene with protein product		613220				12477932	Standard	NM_152834		Approved	DKFZp434C1714	uc002qwl.3	Q96B42	OTTHUMG00000151381	ENST00000281017.3:c.178+1G>T	2.37:g.675509C>A						TMEM18_uc002qwk.2_Splice_Site|uc002qwm.1_5'Flank	p.V60_splice	NM_152834	NP_690047	Q96B42	TMM18_HUMAN		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)	2	272	-	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)						D6W4X9|Q8N5H2|Q9NTH3	Splice_Site	SNP	ENST00000281017.3	37	c.178_splice	CCDS33141.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840666	0.32513	.	.	ENSG00000151353	ENST00000281017;ENST00000355654;ENST00000405941	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.772	0.63032	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM18	665509	1.000000	0.71417	0.988000	0.46212	0.146000	0.21551	5.863000	0.69568	2.602000	0.87976	0.591000	0.81541	.		0.468	TMEM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322427.1	NM_152834	Intron	12	59	1	0	2.61681e-11	0.00245	4.18576e-11	12	59				
PXDN	7837	broad.mit.edu	37	2	1653320	1653320	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:1653320G>T	ENST00000252804.4	-	17	2282	c.2232C>A	c.(2230-2232)caC>caA	p.H744Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	744					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.H744Q(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGGTGCCGTCGTGCGTCCGGT	0.612																																							uc002qxa.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(2230-2232)CAC>CAA		peroxidasin precursor							108.0	118.0	115.0					2																	1653320		2077	4204	6281	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1653320G>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2232C>A	2.37:g.1653320G>T	ENSP00000252804:p.His744Gln						p.H744Q	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2296	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	744					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2232C>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	7.510	0.654470	0.14580	.	.	ENSG00000130508	ENST00000252804	T	0.68479	-0.33	5.63	-1.14	0.09741	.	0.107324	0.64402	N	0.000006	T	0.52075	0.1712	L	0.47716	1.5	0.47214	D	0.999359	B	0.16166	0.016	B	0.22386	0.039	T	0.25779	-1.0122	10	0.28530	T	0.3	-52.5907	7.426	0.27098	0.4403:0.1149:0.4448:0.0	.	744	Q92626	PXDN_HUMAN	Q	744	ENSP00000252804:H744Q	ENSP00000252804:H744Q	H	-	3	2	PXDN	1632327	0.093000	0.21703	0.856000	0.33681	0.520000	0.34377	-0.532000	0.06164	-0.128000	0.11641	-1.041000	0.02371	CAC		0.612	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		14	93	1	0	1.5739e-10	0.004007	2.46892e-10	14	93				
GRHL1	29841	broad.mit.edu	37	2	10136041	10136041	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:10136041G>T	ENST00000324907.9	+	13	1670	c.1534G>T	c.(1534-1536)Gat>Tat	p.D512Y	GRHL1_ENST00000480736.1_5'UTR|GRHL1_ENST00000324883.5_Missense_Mutation_p.D323Y|GRHL1_ENST00000405379.2_Missense_Mutation_p.D512Y	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	512					cellular lipid metabolic process (GO:0044255)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D512Y(1)|p.D323Y(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CGGCACAGAAGATGACTTTGC	0.453																																							uc002raa.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(1534-1536)GAT>TAT		grainyhead-like 1							182.0	186.0	185.0					2																	10136041		2203	4300	6503	SO:0001583	missense	29841				cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding	g.chr2:10136041G>T	AF198489	CCDS33144.1, CCDS33144.2	2p25.2	2008-02-05	2005-07-11	2005-07-11	ENSG00000134317	ENSG00000134317			17923	protein-coding gene	gene with protein product		609786	"""transcription factor CP2-like 2"""	TFCP2L2		10644752, 12393799	Standard	NM_198182		Approved	LBP-32, MGR	uc002raa.3	Q9NZI5	OTTHUMG00000151704	ENST00000324907.9:c.1534G>T	2.37:g.10136041G>T	ENSP00000324693:p.Asp512Tyr					GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Missense_Mutation_p.D323Y|GRHL1_uc010yjb.1_Missense_Mutation_p.D361Y	p.D512Y	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN		Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)	13	1705	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		512					A6NLA4|B2R7E4|B5MEC2|Q53T93|Q6NWN7|Q6NWN8|Q6NWN9|Q8NI33	Missense_Mutation	SNP	ENST00000324907.9	37	c.1534G>T	CCDS33144.2	.	.	.	.	.	.	.	.	.	.	G	32	5.123286	0.94429	.	.	ENSG00000134317	ENST00000405379;ENST00000324883;ENST00000324907	T;T;T	0.19105	2.63;2.17;2.63	6.03	6.03	0.97812	.	0.139089	0.64402	D	0.000005	T	0.32734	0.0839	N	0.20986	0.625	0.80722	D	1	D;P	0.58970	0.984;0.885	P;P	0.58873	0.847;0.594	T	0.03166	-1.1065	10	0.87932	D	0	-3.7861	20.5568	0.99304	0.0:0.0:1.0:0.0	.	323;512	Q9NZI5-2;Q9NZI5	.;GRHL1_HUMAN	Y	512;323;512	ENSP00000384209:D512Y;ENSP00000324494:D323Y;ENSP00000324693:D512Y	ENSP00000324494:D323Y	D	+	1	0	GRHL1	10053492	1.000000	0.71417	0.980000	0.43619	0.956000	0.61745	6.183000	0.72002	2.861000	0.98227	0.655000	0.94253	GAT		0.453	GRHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323543.2	NM_014552		25	185	1	0	1.1804e-14	0.003954	2.01135e-14	25	185				
NCOA1	8648	broad.mit.edu	37	2	24929509	24929509	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:24929509C>T	ENST00000406961.1	+	13	1822	c.1170C>T	c.(1168-1170)gtC>gtT	p.V390V	NCOA1_ENST00000407230.1_Silent_p.V239V|NCOA1_ENST00000395856.3_Silent_p.V390V|NCOA1_ENST00000405141.1_Silent_p.V390V|NCOA1_ENST00000288599.5_Silent_p.V390V|NCOA1_ENST00000348332.3_Silent_p.V390V|NCOA1_ENST00000538539.1_Silent_p.V390V			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	390	Interaction with STAT3.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.V390V(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCCTCGGTCAATCCTAGTA	0.473			T	PAX3	alveolar rhadomyosarcoma																																		uc002rfk.2		NA		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	2	Substitution - coding silent(2)		lung(2)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(1168-1170)GTC>GTT		nuclear receptor coactivator 1 isoform 1							78.0	80.0	80.0					2																	24929509		2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24929509C>T	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1170C>T	2.37:g.24929509C>T						NCOA1_uc010eye.2_Silent_p.V390V|NCOA1_uc002rfi.2_Silent_p.V239V|NCOA1_uc002rfj.2_Silent_p.V390V|NCOA1_uc002rfl.2_Silent_p.V390V	p.V390V	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			11	1428	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		390			Interaction with STAT3.|Ser-rich.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.1170C>T	CCDS1712.1																																																																																				0.473	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		4	38	0	0	0	0.001168	0	4	38				
PRR30	339779	broad.mit.edu	37	2	27360020	27360020	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:27360020G>T	ENST00000335524.3	-	3	1703	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H	PREB_ENST00000260643.2_5'Flank|PREB_ENST00000416802.1_5'Flank|PREB_ENST00000406567.3_5'Flank	NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		393								p.P393H(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCAGGGCAAGGCCTGGGCTT	0.582																																							uc002rjb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1177-1179)CCT>CAT		hypothetical protein LOC339779							74.0	82.0	79.0					2																	27360020		2203	4300	6503	SO:0001583	missense	339779							g.chr2:27360020G>T																												ENST00000335524.3:c.1178C>A	2.37:g.27360020G>T	ENSP00000335017:p.Pro393His					PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|PREB_uc002riz.1_5'Flank|PREB_uc002rja.1_5'Flank	p.P393H	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN			3	1758	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		393					Q86UE2	Missense_Mutation	SNP	ENST00000335524.3	37	c.1178C>A	CCDS1739.1	.	.	.	.	.	.	.	.	.	.	G	9.226	1.034493	0.19590	.	.	ENSG00000186143	ENST00000335524	T	0.37235	1.21	4.31	-0.734	0.11140	.	0.737085	0.11138	N	0.595633	T	0.22244	0.0536	L	0.32530	0.975	0.09310	N	1	B	0.20261	0.043	B	0.21546	0.035	T	0.32052	-0.9921	10	0.87932	D	0	0.0215	0.7865	0.01049	0.191:0.1553:0.3355:0.3183	.	393	Q53SZ7	CB053_HUMAN	H	393	ENSP00000335017:P393H	ENSP00000335017:P393H	P	-	2	0	C2orf53	27213524	0.000000	0.05858	0.000000	0.03702	0.061000	0.15899	-0.188000	0.09642	-0.396000	0.07703	0.561000	0.74099	CCT		0.582	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			12	66	1	0	4.3838e-07	0.001855	6.06924e-07	12	66				
DNAJC5G	285126	broad.mit.edu	37	2	27501140	27501140	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:27501140C>T	ENST00000296097.3	+	5	878	c.460C>T	c.(460-462)Cct>Tct	p.P154S	DNAJC5G_ENST00000406962.1_Silent_p.H66H|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.P154S|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.P138S|SLC30A3_ENST00000447008.2_5'Flank	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	154						membrane (GO:0016020)		p.P154S(1)		cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAACCACCACCTGAGCAGGA	0.478																																							uc002rjl.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(460-462)CCT>TCT		DnaJ (Hsp40) homolog, subfamily C, member 5							180.0	137.0	152.0					2																	27501140		2203	4300	6503	SO:0001583	missense	285126				protein folding	membrane	heat shock protein binding|unfolded protein binding	g.chr2:27501140C>T	AF368277	CCDS1744.1	2p23	2011-09-02			ENSG00000163793	ENSG00000163793		"""Heat shock proteins / DNAJ (HSP40)"""	24844	protein-coding gene	gene with protein product		613946					Standard	NM_173650		Approved	FLJ40417, CSP-gamma	uc002rjl.1	Q8N7S2	OTTHUMG00000097079	ENST00000296097.3:c.460C>T	2.37:g.27501140C>T	ENSP00000296097:p.Pro154Ser					SLC30A3_uc010ylh.1_5'Flank|DNAJC5G_uc010yli.1_Silent_p.H66H|DNAJC5G_uc002rjm.1_Missense_Mutation_p.P154S	p.P154S	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN			5	878	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		154					B4DY29|Q53SY5|Q8IYQ4|Q96RJ8	Missense_Mutation	SNP	ENST00000296097.3	37	c.460C>T	CCDS1744.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.970783	0.34754	.	.	ENSG00000163793	ENST00000296097;ENST00000402462;ENST00000404433	T;T;T	0.46819	0.86;0.86;0.86	5.35	-6.02	0.02192	.	0.942207	0.08640	N	0.915676	T	0.24586	0.0596	L	0.35487	1.065	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.26292	-1.0107	10	0.20046	T	0.44	.	0.6936	0.00895	0.2195:0.1573:0.227:0.3962	.	154	Q8N7S2	DNJ5G_HUMAN	S	154;154;138	ENSP00000296097:P154S;ENSP00000384305:P154S;ENSP00000385829:P138S	ENSP00000296097:P154S	P	+	1	0	DNAJC5G	27354644	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.991000	0.01478	-0.556000	0.06134	-0.351000	0.07748	CCT		0.478	DNAJC5G-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214200.1	NM_173650		5	23	0	0	0	0.000602	0	5	23				
XDH	7498	broad.mit.edu	37	2	31573033	31573033	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:31573033C>T	ENST00000379416.3	-	25	2736	c.2688G>A	c.(2686-2688)cgG>cgA	p.R896R		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	896					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.R896R(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GCCCAGTGCCCCGGATGTTGG	0.532																																					Colon(66;682 1445 30109 40147)	Colon(66;682 1445 30109 40147)	uc002rnv.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(2686-2688)CGG>CGA		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						92.0	100.0	98.0					2																	31573033		2203	4300	6503	SO:0001819	synonymous_variant	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31573033C>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2688G>A	2.37:g.31573033C>T							p.R896R	NM_000379	NP_000370	P47989	XDH_HUMAN			25	2767	-	Acute lymphoblastic leukemia(172;0.155)		896					Q16681|Q16712|Q4PJ16	Silent	SNP	ENST00000379416.3	37	c.2688G>A	CCDS1775.1																																																																																				0.532	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		11	84	0	0	0	0.000978	0	11	84				
FSHR	2492	broad.mit.edu	37	2	49190968	49190968	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:49190968G>T	ENST00000406846.2	-	10	1111	c.992C>A	c.(991-993)aCt>aAt	p.T331N	FSHR_ENST00000541117.1_Missense_Mutation_p.T67N|FSHR_ENST00000346173.3_Missense_Mutation_p.T269N|FSHR_ENST00000304421.4_Missense_Mutation_p.T305N	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	331					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.T331N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GTCAAACTCAGTGTACGTCAT	0.463									Gonadal Dysgenesis, 46 XX																														uc002rww.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(991-993)ACT>AAT		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						302.0	260.0	274.0					2																	49190968		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190968G>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.992C>A	2.37:g.49190968G>T	ENSP00000384708:p.Thr331Asn					FSHR_uc002rwx.2_Missense_Mutation_p.T269N|FSHR_uc010fbn.2_Missense_Mutation_p.T305N	p.T331N	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1066	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	331			Extracellular (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.992C>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.897754	0.00517	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117;ENST00000454032	T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16	5.33	-6.18	0.02085	Gonadotropin hormone receptor, transmembrane domain (1);	1.263750	0.05091	N	0.485208	T	0.19287	0.0463	N	0.01352	-0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.08848	-1.0702	9	.	.	.	.	0.5172	0.00605	0.26:0.1395:0.2762:0.3243	.	305;269;331	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	N	331;269;305;67;269	ENSP00000384708:T331N;ENSP00000333908:T269N;ENSP00000306780:T305N;ENSP00000444172:T67N;ENSP00000415504:T269N	.	T	-	2	0	FSHR	49044472	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	-0.481000	0.06552	-1.050000	0.03230	-3.297000	0.00046	ACT		0.463	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			11	142	1	0	5.16669e-11	0.000978	8.19273e-11	11	142				
NRXN1	9378	broad.mit.edu	37	2	50149280	50149280	+	Silent	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:50149280G>C	ENST00000406316.2	-	22	5712	c.4236C>G	c.(4234-4236)gcC>gcG	p.A1412A	NRXN1_ENST00000402717.3_Silent_p.A1434A|NRXN1_ENST00000342183.5_Silent_p.A377A|NRXN1_ENST00000404971.1_Silent_p.A1482A|NRXN1_ENST00000406859.3_Silent_p.A1412A|NRXN1_ENST00000401669.2_Silent_p.A1442A|NRXN1_ENST00000401710.1_Silent_p.A430A|NRXN1_ENST00000405472.3_Silent_p.A1434A	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1412	Poly-Ala.				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.A377A(1)|p.A1482A(1)|p.A1483A(1)|p.A1412A(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)			GGATGCACAGGGCGGCAGCGG	0.562																																							uc010fbp.2		NA																	4	Substitution - coding silent(4)		lung(4)	ovary(2)	2						c.(1129-1131)GCC>GCG		neurexin 1 isoform beta precursor							146.0	116.0	126.0					2																	50149280		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:50149280G>C	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.4236C>G	2.37:g.50149280G>C						NRXN1_uc002rxb.3_Silent_p.A1111A|NRXN1_uc010fbq.2_Silent_p.A1482A|NRXN1_uc002rxe.3_Silent_p.A1412A|NRXN1_uc010yon.1_Silent_p.A77A|NRXN1_uc002rxa.3_Silent_p.A74A	p.A377A	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	1938	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	377			Poly-Ala.|Helical; (Potential).		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.1131C>G	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.612|4.612	0.113705|0.113705	0.08831|0.08831	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000378262|ENST00000412315	.|.	.|.	.|.	5.97|5.97	3.18|3.18	0.36537|0.36537	.|.	.|.	.|.	.|.	.|.	T|T	0.57873|0.57873	0.2083|0.2083	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50550|0.50550	-0.8815|-0.8815	4|4	.|.	.|.	.|.	.|.	8.3311|8.3311	0.32187|0.32187	0.1421:0.364:0.4939:0.0|0.1421:0.364:0.4939:0.0	.|.	.|.	.|.	.|.	A|R	79|145	.|.	.|.	P|P	-|-	1|2	0|0	NRXN1|NRXN1	50002784|50002784	0.881000|0.881000	0.30235|0.30235	0.998000|0.998000	0.56505|0.56505	0.943000|0.943000	0.58893|0.58893	-0.152000|-0.152000	0.10159|0.10159	0.403000|0.403000	0.25479|0.25479	0.655000|0.655000	0.94253|0.94253	CCT|CCC		0.562	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			6	45	0	0	0	0.001984	0	6	45				
MPHOSPH10	10199	broad.mit.edu	37	2	71361141	71361141	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:71361141G>T	ENST00000244230.2	+	3	1184	c.832G>T	c.(832-834)Gac>Tac	p.D278Y	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.D278Y	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	278					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)	p.D278Y(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AAGTGATGAAGACATAACAAA	0.303																																							uc002sht.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(832-834)GAC>TAC		M-phase phosphoprotein 10							81.0	79.0	79.0					2																	71361141		2203	4300	6503	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71361141G>T	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.832G>T	2.37:g.71361141G>T	ENSP00000244230:p.Asp278Tyr					MPHOSPH10_uc010feb.1_Missense_Mutation_p.D278Y	p.D278Y	NM_005791	NP_005782	O00566	MPP10_HUMAN			3	1184	+			278					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.832G>T	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.515678	0.64634	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.10477	2.87;2.87	4.43	3.54	0.40534	.	0.266144	0.40554	N	0.001072	T	0.24198	0.0586	M	0.77103	2.36	0.46749	D	0.999184	D;P	0.57257	0.979;0.954	P;P	0.55222	0.771;0.771	T	0.01574	-1.1321	10	0.51188	T	0.08	.	10.0139	0.42003	0.1:0.0:0.9:0.0	.	278;278	B3KPV5;O00566	.;MPP10_HUMAN	Y	278;138	ENSP00000244230:D278Y;ENSP00000393034:D138Y	ENSP00000244230:D278Y	D	+	1	0	MPHOSPH10	71214649	1.000000	0.71417	0.675000	0.29917	0.838000	0.47535	6.540000	0.73861	1.215000	0.43411	0.585000	0.79938	GAC		0.303	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791		7	38	1	0	8.12818e-05	0.001984	0.000100707	7	38				
IL1RL2	8808	broad.mit.edu	37	2	102818106	102818106	+	Missense_Mutation	SNP	G	G	T	rs142080534	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:102818106G>T	ENST00000264257.2	+	5	706	c.580G>T	c.(580-582)Gcg>Tcg	p.A194S	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Missense_Mutation_p.A77S|IL1RL2_ENST00000539491.1_Missense_Mutation_p.A194S	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	194	Ig-like C2-type 2.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.A194S(1)|p.A77S(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AGGGAACTACGCGTGTCAAGC	0.473																																							uc002tbs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(580-582)GCG>TCG		interleukin 1 receptor-like 2 precursor							131.0	108.0	116.0					2																	102818106		2203	4300	6503	SO:0001583	missense	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102818106G>T	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.580G>T	2.37:g.102818106G>T	ENSP00000264257:p.Ala194Ser					IL1RL2_uc002tbt.2_Missense_Mutation_p.A77S	p.A194S	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN			5	706	+			194			Extracellular (Potential).|Ig-like C2-type 2.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	ENST00000264257.2	37	c.580G>T	CCDS2056.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577901	0.28180	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.12147	2.71;3.99;2.71	4.56	0.464	0.16706	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.477956	0.23058	N	0.052405	T	0.08358	0.0208	L	0.33485	1.01	0.09310	N	1	B;B	0.17268	0.01;0.021	B;B	0.20577	0.008;0.03	T	0.23547	-1.0185	10	0.40728	T	0.16	.	3.1433	0.06463	0.3096:0.0:0.5025:0.1878	.	77;194	A4FU63;Q9HB29	.;ILRL2_HUMAN	S	194;77;194	ENSP00000264257:A194S;ENSP00000413348:A77S;ENSP00000442184:A194S	ENSP00000264257:A194S	A	+	1	0	IL1RL2	102184538	0.001000	0.12720	0.000000	0.03702	0.078000	0.17371	0.694000	0.25512	0.267000	0.21916	-0.448000	0.05591	GCG		0.473	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		8	51	1	0	5.18039e-06	0.00308	6.91034e-06	8	51				
SLC9A4	389015	broad.mit.edu	37	2	103120017	103120017	+	Silent	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:103120017G>C	ENST00000295269.4	+	3	1288	c.831G>C	c.(829-831)ggG>ggC	p.G277G		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	277					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.G277G(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGCTTGGAGGGGTATTGTTTG	0.398																																							uc002tbz.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(829-831)GGG>GGC		solute carrier family 9 (sodium/hydrogen							351.0	328.0	336.0					2																	103120017		2203	4300	6503	SO:0001819	synonymous_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103120017G>C		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.831G>C	2.37:g.103120017G>C							p.G277G	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			3	1288	+			277			Helical; Name=H/M6; (Potential).		Q69YK0	Silent	SNP	ENST00000295269.4	37	c.831G>C	CCDS33264.1																																																																																				0.398	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3		6	64	0	0	0	0.001168	0	6	64				
ST6GAL2	84620	broad.mit.edu	37	2	107459724	107459724	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:107459724C>A	ENST00000409382.3	-	2	1320	c.710G>T	c.(709-711)cGc>cTc	p.R237L	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R237L|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R237L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	237					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)	p.R237L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCCGCGGAAGCGCACCCCGTG	0.687																																							uc002tdq.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(4)|skin(1)	11						c.(709-711)CGC>CTC		ST6 beta-galactosamide							17.0	18.0	18.0					2																	107459724		2200	4298	6498	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107459724C>A	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.710G>T	2.37:g.107459724C>A	ENSP00000386942:p.Arg237Leu					ST6GAL2_uc002tdr.2_Missense_Mutation_p.R237L|ST6GAL2_uc002tds.3_Missense_Mutation_p.R237L	p.R237L	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	829	-			237			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.710G>T	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.761561	0.49468	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.33438	2.42;2.42;1.41	5.14	1.22	0.21188	.	0.445330	0.25954	N	0.027236	T	0.22704	0.0548	L	0.53249	1.67	0.33941	D	0.64322	B;B	0.30526	0.283;0.095	B;B	0.27608	0.081;0.048	T	0.13845	-1.0494	10	0.46703	T	0.11	-31.1226	4.0715	0.09884	0.2813:0.4945:0.0:0.2242	.	237;237	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	L	237	ENSP00000355273:R237L;ENSP00000386942:R237L;ENSP00000387332:R237L	ENSP00000355273:R237L	R	-	2	0	ST6GAL2	106826156	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	1.207000	0.32333	-0.051000	0.13334	-0.224000	0.12420	CGC		0.687	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		3	6	1	0	0.004672	0.004672	0.00512029	3	6				
PTPN4	5775	broad.mit.edu	37	2	120714508	120714508	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:120714508C>T	ENST00000263708.2	+	21	2840	c.2069C>T	c.(2068-2070)cCt>cTt	p.P690L	PTPN4_ENST00000544261.1_Missense_Mutation_p.P323L	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	690	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.P690L(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	GATATTTCGCCTTGTAAGTAT	0.289																																							uc002tmf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2068-2070)CCT>CTT		protein tyrosine phosphatase, non-receptor type	Alendronate(DB00630)						62.0	69.0	67.0					2																	120714508		2203	4296	6499	SO:0001583	missense	5775					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:120714508C>T		CCDS2129.1	2q14.2	2011-06-09			ENSG00000088179	ENSG00000088179		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9656	protein-coding gene	gene with protein product		176878				1648233	Standard	NM_002830		Approved	PTPMEG	uc002tmf.2	P29074	OTTHUMG00000131436	ENST00000263708.2:c.2069C>T	2.37:g.120714508C>T	ENSP00000263708:p.Pro690Leu					PTPN4_uc010flj.1_Missense_Mutation_p.P403L|PTPN4_uc010yyr.1_Missense_Mutation_p.P323L	p.P690L	NM_002830	NP_002821	P29074	PTN4_HUMAN			21	2840	+			690			Tyrosine-protein phosphatase.		B2RBV8|Q9UDA7	Missense_Mutation	SNP	ENST00000263708.2	37	c.2069C>T	CCDS2129.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424692	0.62733	.	.	ENSG00000088179	ENST00000263708;ENST00000544261	T;T	0.17854	2.25;2.25	5.28	5.28	0.74379	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.102200	0.64402	D	0.000002	T	0.57227	0.2039	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72064	-0.4403	10	0.87932	D	0	.	18.9077	0.92469	0.0:1.0:0.0:0.0	.	690	P29074	PTN4_HUMAN	L	690;323	ENSP00000263708:P690L;ENSP00000445841:P323L	ENSP00000263708:P690L	P	+	2	0	PTPN4	120430978	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	7.734000	0.84928	2.449000	0.82847	0.655000	0.94253	CCT		0.289	PTPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254233.2			15	105	0	0	0	0.00245	0	15	105				
CNTNAP5	129684	broad.mit.edu	37	2	125204494	125204494	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:125204494G>T	ENST00000431078.1	+	6	1262	c.898G>T	c.(898-900)Gcc>Tcc	p.A300S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	300	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.A300S(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CGAGACGGATGCCTTAGACAT	0.557																																							uc002tno.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(898-900)GCC>TCC		contactin associated protein-like 5 precursor							107.0	111.0	110.0					2																	125204494		2170	4274	6444	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125204494G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.898G>T	2.37:g.125204494G>T	ENSP00000399013:p.Ala300Ser					CNTNAP5_uc010flu.2_Missense_Mutation_p.A300S	p.A300S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	6	1262	+			300			Laminin G-like 1.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.898G>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968557	0.34754	.	.	ENSG00000155052	ENST00000431078	T	0.76968	-1.06	5.78	2.83	0.33086	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.616271	0.14387	N	0.322790	T	0.46908	0.1417	N	0.02539	-0.55	0.25222	N	0.989891	B	0.14012	0.009	B	0.14023	0.01	T	0.30090	-0.9990	10	0.19147	T	0.46	.	3.3744	0.07232	0.0816:0.2155:0.4465:0.2563	.	300	Q8WYK1	CNTP5_HUMAN	S	300	ENSP00000399013:A300S	ENSP00000399013:A300S	A	+	1	0	CNTNAP5	124920964	1.000000	0.71417	0.998000	0.56505	0.909000	0.53808	1.963000	0.40452	1.560000	0.49568	0.655000	0.94253	GCC		0.557	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			8	40	1	0	5.18039e-06	0.00308	6.91034e-06	8	40				
CNTNAP5	129684	broad.mit.edu	37	2	125530543	125530543	+	Missense_Mutation	SNP	A	A	T	rs567379551		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:125530543A>T	ENST00000431078.1	+	17	3062	c.2698A>T	c.(2698-2700)Acg>Tcg	p.T900S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	900	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.T900S(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CACCAGGGAGACGTCGGAGGA	0.527																																							uc002tno.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(2698-2700)ACG>TCG		contactin associated protein-like 5 precursor							135.0	129.0	131.0					2																	125530543		1938	4138	6076	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125530543A>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2698A>T	2.37:g.125530543A>T	ENSP00000399013:p.Thr900Ser					CNTNAP5_uc010flu.2_Missense_Mutation_p.T901S	p.T900S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	17	3062	+			900			Laminin G-like 3.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.2698A>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	a	15.98	2.993772	0.54041	.	.	ENSG00000155052	ENST00000431078	T	0.39406	1.08	5.63	3.27	0.37495	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.437429	0.18942	N	0.126913	T	0.24314	0.0589	N	0.16743	0.435	0.23827	N	0.996734	B	0.17852	0.024	B	0.24269	0.052	T	0.22243	-1.0222	10	0.21014	T	0.42	.	7.1478	0.25593	0.6466:0.0:0.3534:0.0	.	900	Q8WYK1	CNTP5_HUMAN	S	900	ENSP00000399013:T900S	ENSP00000399013:T900S	T	+	1	0	CNTNAP5	125247013	1.000000	0.71417	0.069000	0.20011	0.896000	0.52359	3.512000	0.53407	0.433000	0.26313	0.524000	0.50904	ACG		0.527	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			6	113	0	0	0	0.001168	0	6	113				
NCKAP5	344148	broad.mit.edu	37	2	133541158	133541158	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:133541158G>T	ENST00000409261.1	-	14	3599	c.3226C>A	c.(3226-3228)Ctg>Atg	p.L1076M	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L1076M|NCKAP5_ENST00000473859.1_5'Flank	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1076								p.L1076M(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTCATTTCCAGTGGCTCATGG	0.512																																							uc002ttp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3226-3228)CTG>ATG		Nck-associated protein 5 isoform 1							198.0	205.0	203.0					2																	133541158		1945	4143	6088	SO:0001583	missense	344148						protein binding	g.chr2:133541158G>T	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3226C>A	2.37:g.133541158G>T	ENSP00000387128:p.Leu1076Met					NCKAP5_uc002ttq.2_Intron	p.L1076M	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	3600	-			1076					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.3226C>A	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879100	0.51801	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.14022	2.54;2.54	5.24	4.35	0.52113	.	0.357190	0.16269	U	0.221874	T	0.23330	0.0564	L	0.32530	0.975	0.37791	D	0.927376	D	0.61080	0.989	P	0.61003	0.882	T	0.04565	-1.0942	10	0.44086	T	0.13	.	13.6463	0.62283	0.0:0.2954:0.7046:0.0	.	1076	O14513	NCKP5_HUMAN	M	1076	ENSP00000387128:L1076M;ENSP00000380603:L1076M	ENSP00000380603:L1076M	L	-	1	2	NCKAP5	133257628	0.997000	0.39634	0.135000	0.22099	0.912000	0.54170	2.154000	0.42291	1.425000	0.47237	0.655000	0.94253	CTG		0.512	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		21	199	1	0	1.96895e-08	0.00278	2.83886e-08	21	199				
THSD7B	80731	broad.mit.edu	37	2	137928454	137928454	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:137928454G>A	ENST00000409968.1	+	7	1847	c.1669G>A	c.(1669-1671)Gga>Aga	p.G557R	THSD7B_ENST00000413152.2_Missense_Mutation_p.G526R|THSD7B_ENST00000272643.3_Missense_Mutation_p.G557R|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	557						integral component of membrane (GO:0016021)		p.G526R(1)|p.G557R(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCCTGATCATGGAAAATGTGG	0.522																																							uc002tva.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1576-1578)GGA>AGA		thrombospondin, type I, domain containing 7B							109.0	102.0	104.0					2																	137928454		2001	4172	6173	SO:0001583	missense	80731							g.chr2:137928454G>A			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1669G>A	2.37:g.137928454G>A	ENSP00000387145:p.Gly557Arg					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.G416R	p.G526R	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	6	1576	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1576G>A		.	.	.	.	.	.	.	.	.	.	G	25.7	4.667774	0.88348	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.23754	2.43;2.29;1.89	5.91	5.91	0.95273	.	0.196725	0.53938	D	0.000051	T	0.40247	0.1109	L	0.43152	1.355	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.65140	0.932;0.932	T	0.02313	-1.1178	10	0.15066	T	0.55	.	17.2153	0.86941	0.0:0.0:1.0:0.0	.	557;526	Q9C0I4;C9JKN6	THS7B_HUMAN;.	R	557;557;526	ENSP00000387145:G557R;ENSP00000272643:G557R;ENSP00000413841:G526R	ENSP00000272643:G557R	G	+	1	0	THSD7B	137644924	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.011000	0.64011	2.793000	0.96121	0.655000	0.94253	GGA		0.522	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		10	39	0	0	0	0.006214	0	10	39				
LRP1B	53353	broad.mit.edu	37	2	141083415	141083415	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:141083415A>G	ENST00000389484.3	-	80	13227	c.12256T>C	c.(12256-12258)Tat>Cat	p.Y4086H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4086					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.Y4086H(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCAGCCCAATATATGCGTTCA	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(12256-12258)TAT>CAT		low density lipoprotein-related protein 1B							118.0	108.0	112.0					2																	141083415		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141083415A>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12256T>C	2.37:g.141083415A>G	ENSP00000374135:p.Tyr4086His	TSP Lung(27;0.18)					p.Y4086H	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	80	13228	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4086			Extracellular (Potential).|LDL-receptor class B 36.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12256T>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.333949	0.81801	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95171	-3.63	5.13	5.13	0.70059	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.380247	0.23906	U	0.043386	D	0.96787	0.8951	M	0.92026	3.265	0.41601	D	0.988853	P	0.51791	0.948	P	0.52267	0.694	D	0.97781	1.0232	10	0.87932	D	0	.	14.943	0.71009	1.0:0.0:0.0:0.0	.	4086	Q9NZR2	LRP1B_HUMAN	H	4086;4024	ENSP00000374135:Y4086H	ENSP00000374135:Y4086H	Y	-	1	0	LRP1B	140799885	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	8.912000	0.92726	1.930000	0.55929	0.482000	0.46254	TAT		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	42	0	0	0	0.001984	0	7	42				
ZEB2	9839	broad.mit.edu	37	2	145157460	145157460	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:145157460C>A	ENST00000558170.2	-	8	2478	c.1294G>T	c.(1294-1296)Gct>Tct	p.A432S	ZEB2_ENST00000303660.4_Missense_Mutation_p.A432S|ZEB2_ENST00000409487.3_Missense_Mutation_p.A432S|ZEB2_ENST00000539609.3_Missense_Mutation_p.A408S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	432					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.A432S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGACTCTGAGCAGATGGATGA	0.458																																					Melanoma(33;1235 1264 5755 16332)	Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(1294-1296)GCT>TCT		zinc finger homeobox 1b							64.0	70.0	68.0					2																	145157460		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157460C>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1294G>T	2.37:g.145157460C>A	ENSP00000454157:p.Ala432Ser					ZEB2_uc002tvv.2_Missense_Mutation_p.A426S|ZEB2_uc010zbm.1_Missense_Mutation_p.A403S|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.A461S	p.A432S	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	1774	-			432					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.1294G>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	6.629	0.484482	0.12641	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.12569	2.7;2.67;2.67;2.83;2.83	5.53	5.53	0.82687	.	0.204155	0.50627	D	0.000106	T	0.07818	0.0196	N	0.11560	0.145	0.48830	D	0.999712	B;B;B;B	0.16802	0.002;0.018;0.018;0.019	B;B;B;B	0.21360	0.009;0.034;0.014;0.013	T	0.32268	-0.9913	10	0.11794	T	0.64	-8.1817	13.7238	0.62745	0.0:0.9263:0.0:0.0737	.	408;297;431;432	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	S	408;432;432;432;432	ENSP00000443792:A408S;ENSP00000302501:A432S;ENSP00000386854:A432S;ENSP00000395496:A432S;ENSP00000376601:A432S	ENSP00000302501:A432S	A	-	1	0	ZEB2	144873930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.356000	0.44116	2.587000	0.87381	0.655000	0.94253	GCT		0.458	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		13	58	1	0	7.03913e-09	0.001368	1.03118e-08	13	58				
RIF1	55183	broad.mit.edu	37	2	152301885	152301885	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:152301885C>A	ENST00000243326.5	+	18	2503	c.2020C>A	c.(2020-2022)Cat>Aat	p.H674N	RIF1_ENST00000453091.2_Missense_Mutation_p.H674N|RIF1_ENST00000430328.2_Missense_Mutation_p.H674N|RIF1_ENST00000444746.2_Missense_Mutation_p.H674N|RIF1_ENST00000428287.2_Missense_Mutation_p.H674N			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGCCTTAGAACATAATTTTAG	0.318																																							uc002txm.2		NA																	0				ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(2020-2022)CAT>AAT		RAP1 interacting factor 1							145.0	140.0	142.0					2																	152301885		2203	4299	6502	SO:0001583	missense	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152301885C>A	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.2020C>A	2.37:g.152301885C>A	ENSP00000243326:p.His674Asn					RIF1_uc002txl.2_Missense_Mutation_p.H674N|RIF1_uc010fnv.1_Missense_Mutation_p.H638N|RIF1_uc002txn.2_Missense_Mutation_p.H674N|RIF1_uc002txo.2_Missense_Mutation_p.H674N	p.H674N	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	19	2150	+			674					A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	c.2020C>A	CCDS2194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.2|21.2	4.118985|4.118985	0.77323|0.77323	.|.	.|.	ENSG00000080345|ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328|ENST00000414861	D;D;D;D;D|.	0.98792|.	-5.14;-5.14;-5.14;-5.14;-5.14|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.094982|.	0.64402|.	D|.	0.000001|.	T|T	0.75917|0.75917	0.3915|0.3915	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.993;0.998|.	T|T	0.74556|0.74556	-0.3626|-0.3626	10|5	0.62326|.	D|.	0.03|.	-14.4306|-14.4306	19.0378|19.0378	0.92986|0.92986	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	674;674|.	Q5UIP0;Q5UIP0-2|.	RIF1_HUMAN;.|.	N|K	674|665	ENSP00000390181:H674N;ENSP00000414615:H674N;ENSP00000415691:H674N;ENSP00000243326:H674N;ENSP00000416123:H674N|.	ENSP00000243326:H674N|.	H|T	+|+	1|2	0|0	RIF1|RIF1	152010131|152010131	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.594000|6.594000	0.74104|0.74104	2.669000|2.669000	0.90835|0.90835	0.655000|0.655000	0.94253|0.94253	CAT|ACA		0.318	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			9	87	1	0	2.17888e-05	0.006214	2.81406e-05	9	87				
GALNT13	114805	broad.mit.edu	37	2	155099310	155099310	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:155099310T>G	ENST00000392825.3	+	6	1145	c.578T>G	c.(577-579)cTt>cGt	p.L193R	GALNT13_ENST00000409237.1_Missense_Mutation_p.L193R	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	193	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L193R(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CGTGCCCGTCTTCGAGGAGCA	0.423																																							uc002tyr.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(577-579)CTT>CGT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							70.0	68.0	69.0					2																	155099310		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155099310T>G	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.578T>G	2.37:g.155099310T>G	ENSP00000376570:p.Leu193Arg					GALNT13_uc002tyt.3_Missense_Mutation_p.L193R|GALNT13_uc010foc.1_Missense_Mutation_p.L12R	p.L193R	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			6	1145	+			193			Lumenal (Potential).|Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.578T>G	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.685351	0.88639	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.58940	0.3;0.3	5.63	5.63	0.86233	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.77922	0.4203	M	0.83852	2.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.81623	-0.0849	10	0.87932	D	0	.	15.0149	0.71576	0.0:0.0:0.0:1.0	.	193;193;193	B3KY85;Q08ER7;Q8IUC8	.;.;GLT13_HUMAN	R	193	ENSP00000376570:L193R;ENSP00000387239:L193R	ENSP00000376570:L193R	L	+	2	0	GALNT13	154807556	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.153000	0.67306	0.482000	0.46254	CTT		0.423	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		5	46	0	0	0	0.000602	0	5	46				
GALNT13	114805	broad.mit.edu	37	2	155099313	155099313	+	Missense_Mutation	SNP	G	G	A	rs374003992		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:155099313G>A	ENST00000392825.3	+	6	1148	c.581G>A	c.(580-582)cGa>cAa	p.R194Q	GALNT13_ENST00000409237.1_Missense_Mutation_p.R194Q	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	194	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R194Q(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GCCCGTCTTCGAGGAGCAGCT	0.423																																							uc002tyr.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(580-582)CGA>CAA		UDP-N-acetyl-alpha-D-galactosamine:polypeptide		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	74.0	72.0	72.0		581	5.6	1.0	2		72	0,8600		0,0,4300	no	missense	GALNT13	NM_052917.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	194/557	155099313	1,13005	2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155099313G>A	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.581G>A	2.37:g.155099313G>A	ENSP00000376570:p.Arg194Gln					GALNT13_uc002tyt.3_Missense_Mutation_p.R194Q|GALNT13_uc010foc.1_Missense_Mutation_p.R13Q	p.R194Q	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			6	1148	+			194			Lumenal (Potential).|Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.581G>A	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787047	0.70337	2.27E-4	0.0	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.61158	0.13;0.13	5.63	5.63	0.86233	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.51210	0.1661	L	0.45744	1.44	0.58432	D	0.999999	B;B;B	0.31040	0.283;0.305;0.283	B;B;B	0.29598	0.104;0.042;0.104	T	0.46062	-0.9218	10	0.13853	T	0.58	.	18.665	0.91486	0.0:0.0:1.0:0.0	.	194;194;194	B3KY85;Q08ER7;Q8IUC8	.;.;GLT13_HUMAN	Q	194	ENSP00000376570:R194Q;ENSP00000387239:R194Q	ENSP00000376570:R194Q	R	+	2	0	GALNT13	154807559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.108000	0.57817	2.665000	0.90641	0.591000	0.81541	CGA		0.423	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		5	43	0	0	0	0.000602	0	5	43				
GALNT13	114805	broad.mit.edu	37	2	155158101	155158101	+	Splice_Site	SNP	A	A	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:155158101A>C	ENST00000392825.3	+	9	1722	c.1155A>C	c.(1153-1155)ccA>ccC	p.P385P	GALNT13_ENST00000409237.1_Splice_Site_p.P385P|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	385					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.P385P(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TCATATCCCCAGGTACACAAT	0.343																																							uc002tyr.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(1153-1155)CCA>CCC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							117.0	120.0	119.0					2																	155158101		2203	4300	6503	SO:0001630	splice_region_variant	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155158101A>C	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1156+1A>C	2.37:g.155158101A>C						GALNT13_uc002tyt.3_Silent_p.P385P|GALNT13_uc010foc.1_Silent_p.P204P|GALNT13_uc010fod.2_Silent_p.P138P	p.P385P	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			9	1722	+			385			Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Silent	SNP	ENST00000392825.3	37	c.1155A>C	CCDS2199.1																																																																																				0.343	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917	Silent	9	109	0	0	0	0.008291	0	9	109				
KCNJ3	3760	broad.mit.edu	37	2	155555778	155555778	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:155555778T>A	ENST00000295101.2	+	1	968	c.491T>A	c.(490-492)tTc>tAc	p.F164Y	KCNJ3_ENST00000544049.1_Missense_Mutation_p.F164Y|AC061961.2_ENST00000443901.1_RNA	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	164					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.F164Y(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTCTTCCTCTTCCAGTCCATC	0.577																																							uc002tyv.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|pancreas(1)	2						c.(490-492)TTC>TAC		potassium inwardly-rectifying channel J3	Halothane(DB01159)						104.0	84.0	91.0					2																	155555778		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155555778T>A	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.491T>A	2.37:g.155555778T>A	ENSP00000295101:p.Phe164Tyr					KCNJ3_uc010zce.1_Missense_Mutation_p.F164Y	p.F164Y	NM_002239	NP_002230	P48549	IRK3_HUMAN			1	686	+			164			Helical; Name=M2; (By similarity).		B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.491T>A	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.545898	0.86022	.	.	ENSG00000162989	ENST00000295101;ENST00000544049	D;T	0.96232	-3.95;1.73	5.4	5.4	0.78164	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.96996	0.9019	L	0.61036	1.89	0.80722	D	1	P;D	0.54397	0.934;0.966	P;P	0.58780	0.657;0.845	D	0.97421	1.0009	10	0.72032	D	0.01	.	14.2459	0.65988	0.0:0.0:0.0:1.0	.	164;164	B4DEW7;P48549	.;IRK3_HUMAN	Y	164	ENSP00000295101:F164Y;ENSP00000438410:F164Y	ENSP00000295101:F164Y	F	+	2	0	KCNJ3	155264024	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.981000	0.88123	2.048000	0.60808	0.454000	0.30748	TTC		0.577	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239		5	47	0	0	0	0.001168	0	5	47				
SLC4A10	57282	broad.mit.edu	37	2	162751275	162751275	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:162751275C>T	ENST00000446997.1	+	11	1374	c.1281C>T	c.(1279-1281)ctC>ctT	p.L427L	SLC4A10_ENST00000421911.1_Silent_p.L427L|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Silent_p.L397L|SLC4A10_ENST00000375514.5_Silent_p.L408L|SLC4A10_ENST00000272716.5_Silent_p.L397L|SLC4A10_ENST00000535165.1_Missense_Mutation_p.S398F	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	427					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.L397L(1)|p.L427L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TTACTGTTCTCCCTCCTGGAG	0.363																																							uc002ubx.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(1279-1281)CTC>CTT		solute carrier family 4, sodium bicarbonate							119.0	113.0	115.0					2																	162751275		1832	4084	5916	SO:0001819	synonymous_variant	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162751275C>T		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1281C>T	2.37:g.162751275C>T						SLC4A10_uc010fpa.1_Silent_p.L439L|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Silent_p.L397L|SLC4A10_uc010zcs.1_Silent_p.L408L	p.L427L	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			11	1465	+			427			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	c.1281C>T	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.547942	0.45383	.	.	ENSG00000144290	ENST00000535165	T	0.55930	0.49	5.37	1.49	0.22878	.	.	.	.	.	T	0.59211	0.2177	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59606	-0.7423	6	0.87932	D	0	.	8.6256	0.33888	0.0:0.5424:0.0:0.4576	.	.	.	.	F	398	ENSP00000437527:S398F	ENSP00000437527:S398F	S	+	2	0	SLC4A10	162459521	0.875000	0.30112	1.000000	0.80357	0.999000	0.98932	-0.046000	0.11983	0.333000	0.23563	0.655000	0.94253	TCC		0.363	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		11	68	0	0	0	0.001855	0	11	68				
GRB14	2888	broad.mit.edu	37	2	165365354	165365354	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:165365354C>A	ENST00000263915.3	-	7	1363	c.825G>T	c.(823-825)cgG>cgT	p.R275R	GRB14_ENST00000543549.1_Silent_p.R188R	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	275	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.R275R(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						ACTGCAAATGCCGCGGTTCCT	0.323																																							uc002ucl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						c.(823-825)CGG>CGT		growth factor receptor-bound protein 14							89.0	90.0	90.0					2																	165365354		2203	4300	6503	SO:0001819	synonymous_variant	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165365354C>A		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.825G>T	2.37:g.165365354C>A						GRB14_uc010zcv.1_Silent_p.R188R|GRB14_uc002ucm.2_RNA	p.R275R	NM_004490	NP_004481	Q14449	GRB14_HUMAN			7	1366	-			275			PH.		B7Z7F9|Q7Z6I1	Silent	SNP	ENST00000263915.3	37	c.825G>T	CCDS2222.1																																																																																				0.323	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			7	75	1	0	0.00198382	0.001984	0.00223792	7	75				
SCN3A	6328	broad.mit.edu	37	2	165987815	165987815	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:165987815C>T	ENST00000360093.3	-	16	2995	c.2504G>A	c.(2503-2505)aGt>aAt	p.S835N	SCN3A_ENST00000409101.3_Missense_Mutation_p.S786N|SCN3A_ENST00000283254.7_Missense_Mutation_p.S835N	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	835					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.S835N(1)|p.S786N(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCCATTAAACTGAGGCTGAC	0.393																																							uc002ucx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(2503-2505)AGT>AAT		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						114.0	112.0	113.0					2																	165987815		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165987815C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2504G>A	2.37:g.165987815C>T	ENSP00000353206:p.Ser835Asn					SCN3A_uc002ucy.2_Missense_Mutation_p.S786N|SCN3A_uc002ucz.2_Missense_Mutation_p.S786N|SCN3A_uc002uda.1_Missense_Mutation_p.S655N|SCN3A_uc002udb.1_Missense_Mutation_p.S655N	p.S835N	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			16	2996	-			835			Helical; Name=S3 of repeat II; (Potential).		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.2504G>A		.	.	.	.	.	.	.	.	.	.	C	23.8	4.455542	0.84209	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98889	-5.21;-5.21;-5.21;-5.21	5.61	5.61	0.85477	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99638	0.9867	H	0.99619	4.66	0.80722	D	1	P;D;D;D;P	0.62365	0.898;0.991;0.989;0.989;0.754	P;D;D;D;P	0.76575	0.828;0.988;0.979;0.979;0.82	D	0.97277	0.9915	10	0.87932	D	0	.	19.6363	0.95735	0.0:1.0:0.0:0.0	.	835;786;786;786;835	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	N	835;835;786;786	ENSP00000353206:S835N;ENSP00000283254:S835N;ENSP00000386726:S786N;ENSP00000403348:S786N	ENSP00000283254:S835N	S	-	2	0	SCN3A	165696061	1.000000	0.71417	0.997000	0.53966	0.938000	0.57974	7.729000	0.84864	2.648000	0.89879	0.585000	0.79938	AGT		0.393	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		11	97	0	0	0	0.008291	0	11	97				
CSRNP3	80034	broad.mit.edu	37	2	166451702	166451702	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:166451702T>C	ENST00000342316.4	+	2	399	c.127T>C	c.(127-129)Tcc>Ccc	p.S43P	CSRNP3_ENST00000409420.1_Missense_Mutation_p.S75P|CSRNP3_ENST00000314499.7_Missense_Mutation_p.S43P	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	43	Ser-rich.				apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S43P(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGTCAATCCATCCACTTCTAG	0.428																																							uc002udf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|skin(1)	5						c.(127-129)TCC>CCC		cysteine-serine-rich nuclear protein 3							144.0	132.0	136.0					2																	166451702		2203	4300	6503	SO:0001583	missense	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166451702T>C	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.127T>C	2.37:g.166451702T>C	ENSP00000344042:p.Ser43Pro					CSRNP3_uc002udg.2_Missense_Mutation_p.S43P	p.S43P	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN			4	503	+			43			Ser-rich.		B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	c.127T>C	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.276772	0.59758	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000409664;ENST00000342316;ENST00000409420	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.09730	0.0239	N	0.04090	-0.28	0.47245	D	0.999366	B	0.20550	0.046	B	0.20184	0.028	T	0.30268	-0.9984	10	0.24483	T	0.36	-16.7756	16.3631	0.83280	0.0:0.0:0.0:1.0	.	43	Q8WYN3	CSRN3_HUMAN	P	43;50;43;43;43;75	ENSP00000412081:S43P;ENSP00000318258:S43P;ENSP00000386278:S43P;ENSP00000344042:S43P;ENSP00000387195:S75P	ENSP00000318258:S43P	S	+	1	0	CSRNP3	166159948	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.919000	0.63383	2.266000	0.75297	0.533000	0.62120	TCC		0.428	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		13	82	0	0	0	0.003163	0	13	82				
ABCB11	8647	broad.mit.edu	37	2	169780148	169780148	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:169780148C>G	ENST00000263817.6	-	28	4074	c.3950G>C	c.(3949-3951)gGa>gCa	p.G1317A		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1317					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.G1317A(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GATGGGGGATCCAGTGGTGAC	0.473																																							uc002ueo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.(3949-3951)GGA>GCA		ATP-binding cassette, sub-family B (MDR/TAP),	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						135.0	137.0	136.0					2																	169780148		1989	4172	6161	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169780148C>G	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3950G>C	2.37:g.169780148C>G	ENSP00000263817:p.Gly1317Ala					ABCB11_uc010zda.1_Missense_Mutation_p.G735A|ABCB11_uc010zdb.1_Missense_Mutation_p.G793A	p.G1317A	NM_003742	NP_003733	O95342	ABCBB_HUMAN			28	4076	-			1317			Cytoplasmic (Potential).		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.3950G>C	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774166	0.90108	.	.	ENSG00000073734	ENST00000263817	D	0.85339	-1.97	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.85660	0.5748	N	0.10837	0.055	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.69307	0.938;0.963	D	0.88606	0.3153	10	0.62326	D	0.03	-0.906	19.4051	0.94644	0.0:1.0:0.0:0.0	.	735;1317	B4DZQ8;O95342	.;ABCBB_HUMAN	A	1317	ENSP00000263817:G1317A	ENSP00000263817:G1317A	G	-	2	0	ABCB11	169488394	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.093000	0.71422	2.581000	0.87130	0.650000	0.86243	GGA		0.473	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742		5	34	0	0	0	0.000602	0	5	34				
LRP2	4036	broad.mit.edu	37	2	170097559	170097559	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:170097559C>A	ENST00000263816.3	-	25	4269	c.3984G>T	c.(3982-3984)ctG>ctT	p.L1328L	LRP2_ENST00000443831.1_Silent_p.L1191L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1328	LDL-receptor class A 15. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.L1328L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ACACTACACTCAGATTCACAC	0.493																																							uc002ues.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(3982-3984)CTG>CTT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						158.0	124.0	136.0					2																	170097559		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170097559C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.3984G>T	2.37:g.170097559C>A						LRP2_uc010zdf.1_Silent_p.L1191L	p.L1328L	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	25	4197	-			1328			LDL-receptor class A 15.|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.3984G>T	CCDS2232.1																																																																																				0.493	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		8	61	1	0	0.000157383	0.00308	0.000192065	8	61				
OSBPL6	114880	broad.mit.edu	37	2	179255873	179255873	+	Missense_Mutation	SNP	G	G	A	rs201135279	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:179255873G>A	ENST00000190611.4	+	22	2751	c.2375G>A	c.(2374-2376)cGg>cAg	p.R792Q	OSBPL6_ENST00000315022.2_Missense_Mutation_p.R796Q|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R761Q|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R756Q|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R817Q|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R756Q	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	792					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R817Q(1)|p.R792Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GCGGTGTACCGGCTGTTTGGA	0.507													.|||	2	0.000399361	0.0	0.0029	5008	,	,		17452	0.0		0.0	False		,,,				2504	0.0						uc002ulx.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(2374-2376)CGG>CAG		oxysterol-binding protein-like protein 6 isoform							167.0	150.0	155.0					2																	179255873		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179255873G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2375G>A	2.37:g.179255873G>A	ENSP00000190611:p.Arg792Gln					OSBPL6_uc002uly.2_Missense_Mutation_p.R817Q|OSBPL6_uc010zfe.1_Missense_Mutation_p.R761Q|OSBPL6_uc002ulz.2_Missense_Mutation_p.R756Q|OSBPL6_uc002uma.2_Missense_Mutation_p.R796Q	p.R792Q	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		22	2753	+			792					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.2375G>A	CCDS2277.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	23.7	4.451049	0.84209	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.51839	0.1698	M	0.64630	1.985	0.80722	D	1	P;D;D;D;D	0.89917	0.943;0.993;0.961;1.0;0.998	P;P;P;D;P	0.83275	0.576;0.833;0.766;0.996;0.882	T	0.39502	-0.9611	10	0.13853	T	0.58	-14.7672	18.8281	0.92127	0.0:0.0:1.0:0.0	.	761;796;756;817;792	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	Q	817;756;761;792;756;796	ENSP00000376293:R817Q;ENSP00000352713:R756Q;ENSP00000387248:R761Q;ENSP00000190611:R792Q;ENSP00000386885:R756Q;ENSP00000318723:R796Q	ENSP00000190611:R792Q	R	+	2	0	OSBPL6	178964119	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.711000	0.84669	2.514000	0.84764	0.462000	0.41574	CGG		0.507	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		21	85	0	0	0	0.001882	0	21	85				
TTN	7273	broad.mit.edu	37	2	179395788	179395788	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:179395788G>T	ENST00000591111.1	-	308	100855	c.100631C>A	c.(100630-100632)aCc>aAc	p.T33544N	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T26312N|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T35185N|TTN_ENST00000460472.2_Missense_Mutation_p.T26120N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T32617N|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T26245N|TTN-AS1_ENST00000592836.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33544	Ig-like 147.				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.T32617N(1)|p.T26245N(1)|p.T32615N(1)|p.T26312N(1)|p.T26120N(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)			GATCTCAAAGGTTGATTTGTA	0.493																																							uc010zfg.1		NA																	5	Substitution - Missense(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.(97849-97851)ACC>AAC		titin isoform N2-A							241.0	237.0	238.0					2																	179395788		1994	4149	6143	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179395788G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.100631C>A	2.37:g.179395788G>T	ENSP00000465570:p.Thr33544Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T26312N|TTN_uc010zfi.1_Missense_Mutation_p.T26245N|TTN_uc010zfj.1_Missense_Mutation_p.T26120N|TTN_uc002umq.2_5'Flank	p.T32617N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		307	98074	-			33544					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.97850C>A		.	.	.	.	.	.	.	.	.	.	G	13.98	2.397960	0.42512	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	4.78	4.78	0.61160	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79505	0.4457	L	0.45581	1.43	0.45172	D	0.998183	D;D;D;D	0.63046	0.961;0.961;0.961;0.992	P;P;P;D	0.65323	0.768;0.768;0.768;0.934	T	0.82226	-0.0562	9	0.87932	D	0	.	17.8178	0.88640	0.0:0.0:1.0:0.0	.	26120;26245;26312;33544	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	32617;26120;26312;26245;26117	ENSP00000343764:T32617N;ENSP00000434586:T26120N;ENSP00000340554:T26312N;ENSP00000352154:T26245N	ENSP00000340554:T26312N	T	-	2	0	TTN	179104034	1.000000	0.71417	0.897000	0.35233	0.447000	0.32167	5.233000	0.65337	2.195000	0.70347	0.555000	0.69702	ACC		0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		30	240	1	0	3.1745e-13	0.008361	5.29808e-13	30	240				
TTN	7273	broad.mit.edu	37	2	179424097	179424097	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:179424097C>A	ENST00000591111.1	-	276	82063	c.81839G>T	c.(81838-81840)gGa>gTa	p.G27280V	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20048V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G28921V|TTN_ENST00000460472.2_Missense_Mutation_p.G19856V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G26353V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G19981V			Q8WZ42	TITIN_HUMAN	titin	27280	Fibronectin type-III 98. {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.G26353V(1)|p.G19981V(1)|p.G19856V(1)|p.G20048V(1)|p.G26351V(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)			CTCATTTTCTCCAGAGACTCT	0.378																																							uc010zfg.1		NA																	5	Substitution - Missense(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.(79057-79059)GGA>GTA		titin isoform N2-A							146.0	147.0	147.0					2																	179424097		1830	4088	5918	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179424097C>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.81839G>T	2.37:g.179424097C>A	ENSP00000465570:p.Gly27280Val					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G20048V|TTN_uc010zfi.1_Missense_Mutation_p.G19981V|TTN_uc010zfj.1_Missense_Mutation_p.G19856V	p.G26353V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	79282	-			27280					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.79058G>T		.	.	.	.	.	.	.	.	.	.	C	12.70	2.015527	0.35511	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.4	4.51	0.55191	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65048	0.2654	L	0.42529	1.33	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.995	D;D;D;D	0.67103	0.949;0.949;0.949;0.927	T	0.69457	-0.5140	9	0.87932	D	0	.	16.6557	0.85227	0.0:0.8703:0.1297:0.0	.	19856;19981;20048;27280	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	26353;19856;20048;19981;19853	ENSP00000343764:G26353V;ENSP00000434586:G19856V;ENSP00000340554:G20048V;ENSP00000352154:G19981V	ENSP00000340554:G20048V	G	-	2	0	TTN	179132343	1.000000	0.71417	0.986000	0.45419	0.986000	0.74619	4.965000	0.63708	1.384000	0.46424	0.655000	0.94253	GGA		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	186	1	0	1.5842e-08	0.001855	2.29772e-08	11	186				
TTN	7273	broad.mit.edu	37	2	179427802	179427802	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:179427802A>G	ENST00000591111.1	-	276	78358	c.78134T>C	c.(78133-78135)gTt>gCt	p.V26045A	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18813A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V27686A|TTN_ENST00000460472.2_Missense_Mutation_p.V18621A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V25118A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18746A			Q8WZ42	TITIN_HUMAN	titin	26045	Ig-like 126.		V -> I. {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.V18621A(1)|p.V18746A(1)|p.V18813A(1)|p.V25118A(1)|p.V25116A(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)			TGCACGCAGAACGACCACCTT	0.488																																							uc010zfg.1		NA																	5	Substitution - Missense(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.(75352-75354)GTT>GCT		titin isoform N2-A							185.0	181.0	182.0					2																	179427802		1954	4142	6096	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179427802A>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.78134T>C	2.37:g.179427802A>G	ENSP00000465570:p.Val26045Ala					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V18813A|TTN_uc010zfi.1_Missense_Mutation_p.V18746A|TTN_uc010zfj.1_Missense_Mutation_p.V18621A	p.V25118A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	75577	-			26045					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.75353T>C		.	.	.	.	.	.	.	.	.	.	A	14.52	2.560764	0.45590	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.97	4.79	0.61399	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.59582	0.2204	L	0.48218	1.51	0.18873	N	0.999989	B;B;B;B	0.12013	0.005;0.005;0.005;0.005	B;B;B;B	0.18871	0.012;0.012;0.023;0.023	T	0.55347	-0.8155	9	0.87932	D	0	.	8.6436	0.33991	0.7433:0.0:0.2567:0.0	.	18621;18746;18813;26045	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	25118;18621;18813;18746;18619	ENSP00000343764:V25118A;ENSP00000434586:V18621A;ENSP00000340554:V18813A;ENSP00000352154:V18746A	ENSP00000340554:V18813A	V	-	2	0	TTN	179136048	1.000000	0.71417	0.865000	0.33974	0.974000	0.67602	2.677000	0.46892	1.039000	0.40074	0.459000	0.35465	GTT		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	173	0	0	0	0.001882	0	20	173				
TTN	7273	broad.mit.edu	37	2	179640673	179640673	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:179640673G>C	ENST00000591111.1	-	28	6142	c.5918C>G	c.(5917-5919)aCc>aGc	p.T1973S	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T1927S|TTN_ENST00000589042.1_Missense_Mutation_p.T1973S|TTN_ENST00000460472.2_Missense_Mutation_p.T1927S|TTN_ENST00000360870.5_Missense_Mutation_p.T1973S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T1973S|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T1927S			Q8WZ42	TITIN_HUMAN	titin	12794					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.T1927S(3)|p.T1973S(3)		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)			AACTTCTTTGGTTTCAGTGGT	0.443																																							uc010zfg.1		NA																	6	Substitution - Missense(6)		lung(6)	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.(5917-5919)ACC>AGC		titin isoform N2-A							157.0	161.0	160.0					2																	179640673		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640673G>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.5918C>G	2.37:g.179640673G>C	ENSP00000465570:p.Thr1973Ser					TTN_uc010zfh.1_Missense_Mutation_p.T1927S|TTN_uc010zfi.1_Missense_Mutation_p.T1927S|TTN_uc010zfj.1_Missense_Mutation_p.T1927S|TTN_uc002unb.2_Missense_Mutation_p.T1973S|uc002unc.1_5'Flank	p.T1973S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		28	6142	-			1973					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.5918C>G		.	.	.	.	.	.	.	.	.	.	G	8.849	0.944169	0.18281	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.62105	0.05;0.29;0.27;0.26;0.45	4.84	4.84	0.62591	Ribonuclease H-like (1);	.	.	.	.	T	0.46288	0.1385	N	0.08118	0	0.22888	N	0.998607	B;B;B;B;B	0.15473	0.0;0.0;0.0;0.0;0.013	B;B;B;B;B	0.12156	0.0;0.0;0.001;0.001;0.007	T	0.48043	-0.9069	9	0.87932	D	0	.	16.1304	0.81428	0.0:0.0:1.0:0.0	.	1927;1927;1927;1973;1973	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	S	1973;1927;1927;1927;1927;1973	ENSP00000343764:T1973S;ENSP00000434586:T1927S;ENSP00000340554:T1927S;ENSP00000352154:T1927S;ENSP00000354117:T1973S	ENSP00000340554:T1927S	T	-	2	0	TTN	179348918	0.993000	0.37304	1.000000	0.80357	0.937000	0.57800	1.929000	0.40114	2.251000	0.74343	0.411000	0.27672	ACC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		20	210	0	0	0	0.002299	0	20	210				
ZSWIM2	151112	broad.mit.edu	37	2	187698752	187698752	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:187698752G>C	ENST00000295131.2	-	6	788	c.749C>G	c.(748-750)aCc>aGc	p.T250S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	250					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.T250S(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)			TATGCATTCGGTACACCTAAA	0.368																																							uc002upu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(748-750)ACC>AGC		zinc finger, SWIM domain containing 2							102.0	89.0	94.0					2																	187698752		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187698752G>C	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.749C>G	2.37:g.187698752G>C	ENSP00000295131:p.Thr250Ser						p.T250S	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		6	789	-			250			ZZ-type.		B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.749C>G	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603808	0.28534	.	.	ENSG00000163012	ENST00000295131	D	0.91631	-2.88	5.78	3.94	0.45596	Zinc finger, ZZ-type (4);	0.245693	0.29493	N	0.011988	D	0.87253	0.6131	L	0.45352	1.415	0.26753	N	0.970157	B	0.21071	0.051	B	0.17433	0.018	T	0.78086	-0.2341	10	0.46703	T	0.11	-1.4674	8.8821	0.35380	0.0802:0.1503:0.7695:0.0	.	250	Q8NEG5	ZSWM2_HUMAN	S	250	ENSP00000295131:T250S	ENSP00000295131:T250S	T	-	2	0	ZSWIM2	187406997	0.991000	0.36638	0.167000	0.22817	0.730000	0.41778	2.793000	0.47845	0.750000	0.32877	0.467000	0.42956	ACC		0.368	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		4	32	0	0	0	0.009096	0	4	32				
TMEFF2	23671	broad.mit.edu	37	2	192863879	192863879	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:192863879C>A	ENST00000272771.5	-	6	1776	c.592G>T	c.(592-594)Gat>Tat	p.D198Y	TMEFF2_ENST00000392314.1_Missense_Mutation_p.D198Y|TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	198	Kazal-like 2. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.D198Y(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			GATTTCCCATCAGAAGCGCAG	0.368																																					Pancreas(50;1277 1381 28487 47072)	Pancreas(50;1277 1381 28487 47072)	uc002utc.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|pancreas(1)|breast(1)|skin(1)	5						c.(592-594)GAT>TAT		transmembrane protein with EGF-like and two							128.0	121.0	123.0					2																	192863879		2203	4299	6502	SO:0001583	missense	23671					extracellular region|integral to membrane		g.chr2:192863879C>A	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.592G>T	2.37:g.192863879C>A	ENSP00000272771:p.Asp198Tyr						p.D198Y	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		6	986	-			198			Kazal-like 2.|Extracellular (Potential).		Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Missense_Mutation	SNP	ENST00000272771.5	37	c.592G>T	CCDS2314.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424089	0.83667	.	.	ENSG00000144339	ENST00000392314;ENST00000272771	T;T	0.13196	2.61;2.61	5.74	5.74	0.90152	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	T	0.58850	0.2151	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75243	-0.3386	10	0.87932	D	0	-17.9311	20.2982	0.98569	0.0:1.0:0.0:0.0	.	198	Q9UIK5	TEFF2_HUMAN	Y	198	ENSP00000376128:D198Y;ENSP00000272771:D198Y	ENSP00000272771:D198Y	D	-	1	0	TMEFF2	192572124	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.445000	0.80570	2.873000	0.98535	0.563000	0.77884	GAT		0.368	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		5	115	1	0	0.000602214	0.000602	0.000706611	5	115				
SGOL2	151246	broad.mit.edu	37	2	201436413	201436413	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:201436413C>T	ENST00000357799.4	+	7	1442	c.1344C>T	c.(1342-1344)ccC>ccT	p.P448P		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	448					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.P448P(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CAGAAGATCCCGGTTTTATTT	0.403																																							uc002uvw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1342-1344)CCC>CCT		shugoshin-like 2 isoform 1							107.0	107.0	107.0					2																	201436413		1840	4075	5915	SO:0001819	synonymous_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201436413C>T	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1344C>T	2.37:g.201436413C>T						SGOL2_uc010zhd.1_Silent_p.P448P|SGOL2_uc010zhe.1_Silent_p.P448P	p.P448P	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			7	1457	+			448					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Silent	SNP	ENST00000357799.4	37	c.1344C>T	CCDS42796.1																																																																																				0.403	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		15	141	0	0	0	0.003163	0	15	141				
MDH1B	130752	broad.mit.edu	37	2	207619756	207619756	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:207619756C>A	ENST00000374412.3	-	5	1162	c.887G>T	c.(886-888)aGa>aTa	p.R296I	MDH1B_ENST00000454776.2_Missense_Mutation_p.R296I|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Missense_Mutation_p.R198I	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	296					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.R296I(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CTTCAGTTTTCTGGCCAGTAT	0.428																																					Pancreas(76;29 1355 28675 37177 51207)	Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(886-888)AGA>ATA		malate dehydrogenase 1B, NAD (soluble)							81.0	77.0	79.0					2																	207619756		2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207619756C>A		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.887G>T	2.37:g.207619756C>A	ENSP00000363533:p.Arg296Ile					MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Missense_Mutation_p.R296I|MDH1B_uc010fuj.2_Missense_Mutation_p.R198I|MDH1B_uc002vbt.2_Intron	p.R296I	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	5	942	-			296					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.887G>T	CCDS33365.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246170	0.59103	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.67523	-0.27;-0.27;-0.27	5.49	3.7	0.42460	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.255981	0.44097	D	0.000481	T	0.66076	0.2753	L	0.54323	1.7	0.80722	D	1	P;P	0.38020	0.56;0.615	B;P	0.45167	0.341;0.472	T	0.65886	-0.6059	10	0.62326	D	0.03	-23.7254	9.3443	0.38098	0.0:0.7818:0.0:0.2182	.	296;296	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	I	296;198;296	ENSP00000363533:R296I;ENSP00000416577:R198I;ENSP00000389916:R296I	ENSP00000363533:R296I	R	-	2	0	MDH1B	207328001	1.000000	0.71417	0.111000	0.21465	0.021000	0.10359	2.745000	0.47459	0.797000	0.33971	0.655000	0.94253	AGA		0.428	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		9	75	1	0	1.76689e-08	0.006214	2.55257e-08	9	75				
CRYGA	1418	broad.mit.edu	37	2	209025704	209025704	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:209025704G>C	ENST00000304502.4	-	3	368	c.349C>G	c.(349-351)Cgt>Ggt	p.R117G		NM_014617.3	NP_055432.2	P11844	CRGA_HUMAN	crystallin, gamma A	117	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)	p.R117G(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		TCAGGGAGACGGAACAGTTCT	0.562																																							uc002vcq.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(349-351)CGT>GGT		crystallin, gamma A							94.0	84.0	88.0					2																	209025704		2203	4300	6503	SO:0001583	missense	1418				visual perception		structural constituent of eye lens	g.chr2:209025704G>C		CCDS33367.1	2q34	2013-02-14			ENSG00000168582	ENSG00000168582			2408	protein-coding gene	gene with protein product	"""gamma crystallin 5"""	123660		CRYG1			Standard	NM_014617		Approved	CRYG5, CRY-g-A		P11844	OTTHUMG00000154796	ENST00000304502.4:c.349C>G	2.37:g.209025704G>C	ENSP00000302105:p.Arg117Gly						p.R117G	NM_014617	NP_055432	P11844	CRGA_HUMAN		Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)	3	366	-			117			Beta/gamma crystallin 'Greek key' 3.		Q53ST5	Missense_Mutation	SNP	ENST00000304502.4	37	c.349C>G	CCDS33367.1	.	.	.	.	.	.	.	.	.	.	G	9.183	1.023972	0.19433	.	.	ENSG00000168582	ENST00000304502	T	0.75589	-0.95	4.69	3.81	0.43845	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.434729	0.25900	N	0.027580	T	0.61185	0.2327	N	0.25957	0.775	0.44289	D	0.997158	B	0.22276	0.067	B	0.32149	0.141	T	0.58853	-0.7563	10	0.52906	T	0.07	.	5.7961	0.18387	0.0982:0.0:0.7099:0.192	.	117	P11844	CRGA_HUMAN	G	117	ENSP00000302105:R117G	ENSP00000302105:R117G	R	-	1	0	CRYGA	208733949	1.000000	0.71417	0.854000	0.33618	0.008000	0.06430	4.128000	0.57951	1.315000	0.45114	0.650000	0.86243	CGT		0.562	CRYGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337096.1	NM_014617		6	48	0	0	0	0.001168	0	6	48				
PIKFYVE	200576	broad.mit.edu	37	2	209169637	209169637	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:209169637C>T	ENST00000264380.4	+	12	1694	c.1536C>T	c.(1534-1536)gcC>gcT	p.A512A	PIKFYVE_ENST00000392202.3_Silent_p.A415A|PIKFYVE_ENST00000308862.6_Silent_p.A426A|PIKFYVE_ENST00000407449.1_Silent_p.A512A	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	512					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.A512A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GTGACTCAGCCGCTTCTATCA	0.512																																							uc002vcz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(1534-1536)GCC>GCT		phosphatidylinositol-3-phosphate 5-kinase type							126.0	118.0	121.0					2																	209169637		2203	4300	6503	SO:0001819	synonymous_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209169637C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.1536C>T	2.37:g.209169637C>T						PIKFYVE_uc010fun.1_Silent_p.A193A|PIKFYVE_uc002vcy.1_Intron|PIKFYVE_uc002vcv.2_Silent_p.A415A|PIKFYVE_uc002vcw.2_Silent_p.A512A|PIKFYVE_uc002vcx.2_Silent_p.A426A	p.A512A	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			12	1694	+			512					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	c.1536C>T	CCDS2382.1																																																																																				0.512	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		8	80	0	0	0	0.004482	0	8	80				
PTH2R	5746	broad.mit.edu	37	2	209315480	209315480	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:209315480C>A	ENST00000272847.2	+	8	1073	c.860C>A	c.(859-861)cCa>cAa	p.P287Q	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	287					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.P287Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TCAGGGTTTCCAGCAGCATTT	0.408																																							uc002vdb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(859-861)CCA>CAA		parathyroid hormone 2 receptor precursor							94.0	106.0	102.0					2																	209315480		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209315480C>A	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.860C>A	2.37:g.209315480C>A	ENSP00000272847:p.Pro287Gln					PTH2R_uc010zjb.1_Missense_Mutation_p.P298Q	p.P287Q	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	8	1073	+			287			Helical; Name=4; (Potential).		Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.860C>A	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788260	0.90367	.	.	ENSG00000144407	ENST00000272847	D	0.84589	-1.87	5.86	5.86	0.93980	GPCR, family 2-like (1);	0.000000	0.37530	N	0.002042	D	0.95082	0.8407	H	0.96996	3.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96183	0.9132	10	0.87932	D	0	.	15.6987	0.77521	0.0:1.0:0.0:0.0	.	176;287	B4DFN8;P49190	.;PTH2R_HUMAN	Q	287	ENSP00000272847:P287Q	ENSP00000272847:P287Q	P	+	2	0	PTH2R	209023725	1.000000	0.71417	0.997000	0.53966	0.948000	0.59901	6.610000	0.74178	2.781000	0.95711	0.650000	0.86243	CCA		0.408	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		13	78	1	0	0.00010058	0.001368	0.000124406	13	78				
NHEJ1	79840	broad.mit.edu	37	2	219942058	219942058	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:219942058G>T	ENST00000356853.5	-	7	868	c.735C>A	c.(733-735)tcC>tcA	p.S245S	NHEJ1_ENST00000483627.1_5'UTR|NHEJ1_ENST00000409720.1_Silent_p.S245S	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	245					B cell differentiation (GO:0030183)|central nervous system development (GO:0007417)|DNA recombination (GO:0006310)|double-strand break repair via nonhomologous end joining (GO:0006303)|positive regulation of ligase activity (GO:0051351)|response to ionizing radiation (GO:0010212)|T cell differentiation (GO:0030217)	nonhomologous end joining complex (GO:0070419)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S245S(1)		kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		TTCCTTGCAGGGAAGCACTGT	0.463								Non-homologous end-joining																															uc002vjp.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(733-735)TCC>TCA	Direct_reversal_of_damage|NHEJ	nonhomologous end-joining factor 1							188.0	165.0	173.0					2																	219942058		2203	4300	6503	SO:0001819	synonymous_variant	79840				B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding	g.chr2:219942058G>T	AJ972687	CCDS2432.1	2q35	2014-09-17			ENSG00000187736	ENSG00000187736			25737	protein-coding gene	gene with protein product		611290				16439204, 16439205	Standard	NM_024782		Approved	Cernunnos, XLF, FLJ12610	uc002vjp.4	Q9H9Q4	OTTHUMG00000133127	ENST00000356853.5:c.735C>A	2.37:g.219942058G>T						NHEJ1_uc002vjq.3_RNA	p.S245S	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)	7	881	-		Renal(207;0.0915)	245					B8ZZA4|Q4ZFW7|Q6IA64|Q96JS9	Silent	SNP	ENST00000356853.5	37	c.735C>A	CCDS2432.1																																																																																				0.463	NHEJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256817.2	NM_024782		6	70	1	0	0.00198382	0.001984	0.00223792	6	70				
COL6A3	1293	broad.mit.edu	37	2	238285757	238285757	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:238285757T>C	ENST00000295550.4	-	7	3180	c.2728A>G	c.(2728-2730)Acg>Gcg	p.T910A	COL6A3_ENST00000353578.4_Missense_Mutation_p.T704A|COL6A3_ENST00000472056.1_Missense_Mutation_p.T303A|COL6A3_ENST00000347401.3_Missense_Mutation_p.T709A|COL6A3_ENST00000409809.1_Missense_Mutation_p.T704A|COL6A3_ENST00000392004.3_Missense_Mutation_p.T704A|COL6A3_ENST00000346358.4_Missense_Mutation_p.T710A|COL6A3_ENST00000392003.2_Missense_Mutation_p.T503A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	910	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.T704A(1)|p.T910A(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTTTGCCCGTCTTGATCTTC	0.517																																							uc002vwl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(2728-2730)ACG>GCG		alpha 3 type VI collagen isoform 1 precursor							81.0	73.0	76.0					2																	238285757		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238285757T>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2728A>G	2.37:g.238285757T>C	ENSP00000295550:p.Thr910Ala					COL6A3_uc002vwo.2_Missense_Mutation_p.T704A|COL6A3_uc010znj.1_Missense_Mutation_p.T303A|COL6A3_uc002vwq.2_Missense_Mutation_p.T704A|COL6A3_uc002vwr.2_Missense_Mutation_p.T503A|COL6A3_uc010znk.1_Missense_Mutation_p.T710A	p.T910A	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	7	3013	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	910			Nonhelical region.|VWFA 5.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.2728A>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543615	0.65198	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.7	4.53	0.55603	von Willebrand factor, type A (3);	0.236957	0.28784	N	0.014156	T	0.35158	0.0922	L	0.31294	0.92	0.36052	D	0.840859	P;P;P;B;P;P	0.49559	0.454;0.88;0.566;0.255;0.925;0.64	B;P;B;B;P;B	0.60012	0.334;0.867;0.314;0.411;0.734;0.334	T	0.33214	-0.9877	10	0.05351	T	0.99	.	8.7793	0.34781	0.0:0.1447:0.0:0.8553	.	710;303;503;704;704;910	E9PCV6;E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;.;CO6A3_HUMAN	A	910;709;704;303;704;710;704;503	ENSP00000295550:T910A;ENSP00000315609:T709A;ENSP00000315873:T704A;ENSP00000418285:T303A;ENSP00000386844:T704A;ENSP00000295546:T710A;ENSP00000375861:T704A;ENSP00000375860:T503A	ENSP00000295550:T910A	T	-	1	0	COL6A3	237950496	1.000000	0.71417	0.995000	0.50966	0.941000	0.58515	2.551000	0.45820	2.170000	0.68504	0.533000	0.62120	ACG		0.517	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		8	53	0	0	0	0.00308	0	8	53				
HDAC4	9759	broad.mit.edu	37	2	240085557	240085557	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:240085557C>A	ENST00000345617.3	-	6	1344	c.553G>T	c.(553-555)Gcg>Tcg	p.A185S	HDAC4_ENST00000541256.1_Missense_Mutation_p.A154S|AC017028.1_ENST00000396489.1_5'Flank	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	185	Interaction with MEF2A.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A185S(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TGGGCCAGCGCCTTCTTTTTA	0.572																																							uc002vyk.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(553-555)GCG>TCG		histone deacetylase 4							134.0	136.0	135.0					2																	240085557		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240085557C>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.553G>T	2.37:g.240085557C>A	ENSP00000264606:p.Ala185Ser					HDAC4_uc010fyz.1_Missense_Mutation_p.A180S|HDAC4_uc010zoa.1_Missense_Mutation_p.A180S|HDAC4_uc010fza.2_Missense_Mutation_p.A185S|HDAC4_uc010fyy.2_Missense_Mutation_p.A137S|HDAC4_uc010znz.1_Missense_Mutation_p.A68S	p.A185S	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	6	1345	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	185			Interaction with MEF2A.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.553G>T	CCDS2529.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324933	0.81580	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621;ENST00000454542	T;T;T	0.46451	4.28;4.28;0.87	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.63640	0.2528	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.999;0.999;1.0;0.998;0.998	D;D;D;D;P;P	0.80764	0.985;0.948;0.972;0.994;0.888;0.888	T	0.66252	-0.5970	9	.	.	.	.	17.1787	0.86849	0.0:1.0:0.0:0.0	.	180;68;154;154;153;185	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	S	185;68;154;68;154	ENSP00000264606:A185S;ENSP00000443057:A154S;ENSP00000405226:A154S	.	A	-	1	0	HDAC4	239750494	1.000000	0.71417	0.995000	0.50966	0.715000	0.41141	7.070000	0.76763	2.124000	0.65301	0.655000	0.94253	GCG		0.572	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		22	86	1	0	1.28384e-07	0.001882	1.78759e-07	22	86				
PLCB4	5332	broad.mit.edu	37	20	9459604	9459604	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr20:9459604G>C	ENST00000378493.1	+	35	3511	c.3496G>C	c.(3496-3498)Gag>Cag	p.E1166Q	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.R1178P|PLCB4_ENST00000278655.4_Missense_Mutation_p.E1166Q|PLCB4_ENST00000378501.2_Missense_Mutation_p.R1178P|PLCB4_ENST00000414679.2_Missense_Mutation_p.E1178Q|PLCB4_ENST00000378473.3_Missense_Mutation_p.E1178Q			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1166					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.R1178Q(1)|p.R1178P(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTGGAAGCCGAGATGGACCG	0.443																																							uc002wnf.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	skin(11)|ovary(3)|pancreas(1)	15						c.(3496-3498)GAG>CAG		phospholipase C beta 4 isoform b							165.0	135.0	145.0					20																	9459604		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9459604G>C		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.3496G>C	20.37:g.9459604G>C	ENSP00000367754:p.Glu1166Gln					PLCB4_uc010gbx.2_Missense_Mutation_p.E1178Q|PLCB4_uc002wne.2_Missense_Mutation_p.R1178P|PLCB4_uc002wnh.2_Missense_Mutation_p.E1013Q	p.E1166Q	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			37	3632	+			1166					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.3496G>C	CCDS13105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.27|16.27	3.076099|3.076099	0.55646|0.55646	.|.	.|.	ENSG00000101333|ENSG00000101333	ENST00000378473;ENST00000278655;ENST00000378493;ENST00000414679|ENST00000334005;ENST00000378501	T;T;T;T|T;T	0.22945|0.19806	2.12;2.11;2.11;1.93|2.12;2.12	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.000000	.|0.41396	.|D	.|0.000897	T|T	0.30696|0.30696	0.0773|0.0773	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999991|0.999991	B;B;P|D	0.47034|0.59767	0.402;0.232;0.889|0.986	B;B;B|P	0.39503|0.49528	0.038;0.122;0.301|0.614	T|T	0.00860|0.00860	-1.1537|-1.1537	8|9	0.52906|0.27785	T|T	0.07|0.31	.|.	19.5796|19.5796	0.95461|0.95461	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1178;1013;1166|1178	E2QRH8;Q15147-2;Q15147|Q15147-4	.;.;PLCB4_HUMAN|.	Q|P	1178;1166;1166;1014|1178	ENSP00000367734:E1178Q;ENSP00000278655:E1166Q;ENSP00000367754:E1166Q;ENSP00000390616:E1014Q|ENSP00000334105:R1178P;ENSP00000367762:R1178P	ENSP00000278655:E1166Q|ENSP00000334105:R1178P	E|R	+|+	1|2	0|0	PLCB4|PLCB4	9407604|9407604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.272000|8.272000	0.89885|0.89885	2.624000|2.624000	0.88883|0.88883	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.443	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			5	19	0	0	0	0.001168	0	5	19				
PAK7	57144	broad.mit.edu	37	20	9624939	9624939	+	Missense_Mutation	SNP	C	C	A	rs549205397		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr20:9624939C>A	ENST00000378429.3	-	4	584	c.38G>T	c.(37-39)gGc>gTc	p.G13V	PAK7_ENST00000353224.5_Missense_Mutation_p.G13V|PAK7_ENST00000378423.1_Missense_Mutation_p.G13V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	13	CRIB. {ECO:0000255|PROSITE- ProRule:PRU00057}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G13V(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTTGGACGGGCCAGATATTTC	0.448																																							uc002wnl.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(37-39)GGC>GTC		p21-activated kinase 7							104.0	101.0	102.0					20																	9624939		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9624939C>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.38G>T	20.37:g.9624939C>A	ENSP00000367686:p.Gly13Val					PAK7_uc002wnk.2_Missense_Mutation_p.G13V|PAK7_uc002wnj.2_Missense_Mutation_p.G13V|PAK7_uc010gby.1_Missense_Mutation_p.G13V	p.G13V	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		4	583	-			13			CRIB.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.38G>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372328	0.82573	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423	D;D;D	0.85955	-2.05;-2.05;-2.05	5.9	5.9	0.94986	PAK-box/P21-Rho-binding (3);	0.050982	0.85682	D	0.000000	D	0.85093	0.5618	L	0.28400	0.85	0.80722	D	1	P;P	0.46859	0.885;0.885	P;P	0.51324	0.666;0.666	T	0.82388	-0.0482	9	.	.	.	.	20.2822	0.98520	0.0:1.0:0.0:0.0	.	13;13	B0AZM9;Q9P286	.;PAK7_HUMAN	V	13	ENSP00000367686:G13V;ENSP00000322957:G13V;ENSP00000367679:G13V	.	G	-	2	0	PAK7	9572939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.312000	0.72840	2.806000	0.96561	0.655000	0.94253	GGC		0.448	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			12	59	1	0	9.31168e-06	0.001855	1.23089e-05	12	59				
TPX2	22974	broad.mit.edu	37	20	30366632	30366632	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr20:30366632G>T	ENST00000300403.6	+	10	1427	c.899G>T	c.(898-900)gGa>gTa	p.G300V	TPX2_ENST00000340513.4_Missense_Mutation_p.G300V	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	300					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)	p.G300V(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GTGACTAAGGGATGTACCATT	0.433																																							uc002wwp.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(898-900)GGA>GTA		TPX2, microtubule-associated protein homolog							128.0	120.0	123.0					20																	30366632		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30366632G>T	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.899G>T	20.37:g.30366632G>T	ENSP00000300403:p.Gly300Val					TPX2_uc010gdv.1_Missense_Mutation_p.G300V	p.G300V	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		10	1597	+			300					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.899G>T	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067054	0.76301	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.40476	1.03	5.08	5.08	0.68730	.	0.233971	0.42682	D	0.000665	T	0.62295	0.2416	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.999;0.981	D;B	0.70227	0.968;0.396	T	0.63189	-0.6693	10	0.59425	D	0.04	-19.5176	16.1468	0.81577	0.0:0.0:1.0:0.0	.	300;300	Q96RR5;Q9ULW0	.;TPX2_HUMAN	V	300	ENSP00000341145:G300V	ENSP00000300403:G300V	G	+	2	0	TPX2	29830293	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	5.418000	0.66429	2.793000	0.96121	0.655000	0.94253	GGA		0.433	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			15	148	1	0	2.35188e-11	0.006122	3.7952e-11	15	148				
CBFA2T2	9139	broad.mit.edu	37	20	32162056	32162056	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr20:32162056G>T	ENST00000346541.3	+	2	587	c.50G>T	c.(49-51)aGg>aTg	p.R17M	CBFA2T2_ENST00000342704.6_Intron|CBFA2T2_ENST00000492345.1_5'UTR|CBFA2T2_ENST00000344201.3_Intron|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.R17M|CBFA2T2_ENST00000397798.2_5'UTR|CBFA2T2_ENST00000397800.1_Intron	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	17					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R17M(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GTCCTGGCAAGGCAATGGAAA	0.368																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	Esophageal Squamous(174;142 1955 14837 21276 28041)	uc002wzg.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(49-51)AGG>ATG		core-binding factor, runt domain, alpha subunit							124.0	117.0	119.0					20																	32162056		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32162056G>T	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.50G>T	20.37:g.32162056G>T	ENSP00000262653:p.Arg17Met					CBFA2T2_uc010zug.1_Intron|CBFA2T2_uc002wze.1_Intron|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Intron|CBFA2T2_uc002wzi.1_RNA	p.R17M	NM_005093	NP_005084	O43439	MTG8R_HUMAN			2	587	+			17					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.50G>T	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	g	5.028	0.190937	0.09547	.	.	ENSG00000078699	ENST00000375279;ENST00000346541;ENST00000454955	T;T	0.50813	0.73;0.73	1.98	1.01	0.19927	.	.	.	.	.	T	0.28167	0.0695	N	0.08118	0	0.09310	N	0.999999	P	0.46578	0.88	P	0.46208	0.507	T	0.08411	-1.0723	9	0.39692	T	0.17	.	4.4415	0.11577	0.1975:0.0:0.8025:0.0	.	17	O43439	MTG8R_HUMAN	M	17	ENSP00000364428:R17M;ENSP00000262653:R17M	ENSP00000262653:R17M	R	+	2	0	CBFA2T2	31625717	0.002000	0.14202	0.003000	0.11579	0.045000	0.14185	0.350000	0.20079	0.405000	0.25532	0.645000	0.84053	AGG		0.368	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		24	75	1	0	3.28513e-13	0.003954	5.44541e-13	24	75				
CBFA2T2	9139	broad.mit.edu	37	20	32210932	32210932	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr20:32210932C>T	ENST00000346541.3	+	6	1086	c.549C>T	c.(547-549)ccC>ccT	p.P183P	CBFA2T2_ENST00000342704.6_Silent_p.P174P|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000492345.1_Silent_p.P154P|CBFA2T2_ENST00000359606.3_Silent_p.P193P|CBFA2T2_ENST00000344201.3_Silent_p.P154P|CBFA2T2_ENST00000375279.2_Silent_p.P183P|CBFA2T2_ENST00000397798.2_Silent_p.P154P|CBFA2T2_ENST00000397800.1_Silent_p.P154P	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	183	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P174P(1)|p.P183P(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CCAACCTGCCCCTGCTGCAGC	0.557																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	Esophageal Squamous(174;142 1955 14837 21276 28041)	uc002wzg.1		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(1)|skin(1)	2						c.(547-549)CCC>CCT		core-binding factor, runt domain, alpha subunit							51.0	43.0	46.0					20																	32210932		2203	4300	6503	SO:0001819	synonymous_variant	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32210932C>T	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.549C>T	20.37:g.32210932C>T						CBFA2T2_uc010zug.1_5'UTR|CBFA2T2_uc002wze.1_Silent_p.P174P|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.P154P|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA	p.P183P	NM_005093	NP_005084	O43439	MTG8R_HUMAN			6	1086	+			183			TAFH.		B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Silent	SNP	ENST00000346541.3	37	c.549C>T	CCDS13221.1																																																																																				0.557	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		4	33	0	0	0	0.000602	0	4	33				
RPN2	6185	broad.mit.edu	37	20	35826893	35826893	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr20:35826893G>T	ENST00000237530.6	+	3	612	c.301G>T	c.(301-303)Gag>Tag	p.E101*	RPN2_ENST00000373622.5_Intron	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	101					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)	p.E101*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CTCAGGATGTGAGGTGAGTCC	0.443																																							uc002xgp.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(301-303)GAG>TAG		ribophorin II isoform 1 precursor							102.0	91.0	94.0					20																	35826893		2203	4300	6503	SO:0001587	stop_gained	6185				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr20:35826893G>T	Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.301G>T	20.37:g.35826893G>T	ENSP00000237530:p.Glu101*					RPN2_uc002xgo.3_Nonsense_Mutation_p.E101*|RPN2_uc010gfw.2_Intron|RPN2_uc002xgq.2_Intron	p.E101*	NM_002951	NP_002942	P04844	RPN2_HUMAN			3	605	+		Myeloproliferative disorder(115;0.00878)	101			Lumenal (Potential).		Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Nonsense_Mutation	SNP	ENST00000237530.6	37	c.301G>T	CCDS13291.1	.	.	.	.	.	.	.	.	.	.	G	33	5.202885	0.94997	.	.	ENSG00000118705	ENST00000237530;ENST00000373632;ENST00000338768	.	.	.	5.19	5.19	0.71726	.	0.053944	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-19.9931	16.2519	0.82491	0.0:0.0:1.0:0.0	.	.	.	.	X	101	.	ENSP00000237530:E101X	E	+	1	0	RPN2	35260307	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.935000	0.92923	2.689000	0.91719	0.563000	0.77884	GAG		0.443	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079076.2	NM_002951		5	63	1	0	0.000157383	0.00308	0.000192065	5	63				
CHD6	84181	broad.mit.edu	37	20	40045883	40045883	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr20:40045883C>G	ENST00000373233.3	-	32	6411	c.6234G>C	c.(6232-6234)caG>caC	p.Q2078H	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2078					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.Q2078H(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCTGTAGCAGCTGAGCAATAG	0.527																																							uc002xka.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(6232-6234)CAG>CAC		chromodomain helicase DNA binding protein 6							113.0	116.0	115.0					20																	40045883		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40045883C>G	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6234G>C	20.37:g.40045883C>G	ENSP00000362330:p.Gln2078His					CHD6_uc002xjz.1_5'Flank	p.Q2078H	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			32	6412	-		Myeloproliferative disorder(115;0.00425)	2078					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.6234G>C	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913866	0.52439	.	.	ENSG00000124177	ENST00000373233	D	0.88124	-2.34	5.44	-1.19	0.09585	.	0.000000	0.56097	D	0.000037	D	0.89210	0.6650	L	0.52905	1.665	0.80722	D	1	D	0.71674	0.998	D	0.79784	0.993	D	0.85433	0.1150	10	0.33940	T	0.23	-18.1668	11.5033	0.50450	0.0:0.633:0.0:0.367	.	2078	Q8TD26	CHD6_HUMAN	H	2078	ENSP00000362330:Q2078H	ENSP00000362330:Q2078H	Q	-	3	2	CHD6	39479297	1.000000	0.71417	0.984000	0.44739	0.524000	0.34500	1.847000	0.39299	-0.107000	0.12088	-0.793000	0.03317	CAG		0.527	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			8	91	0	0	0	0.00308	0	8	91				
STK4	6789	broad.mit.edu	37	20	43623806	43623806	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr20:43623806T>C	ENST00000372806.3	+	6	696	c.601T>C	c.(601-603)Tac>Cac	p.Y201H	STK4_ENST00000499879.2_Missense_Mutation_p.Y146H|STK4_ENST00000372801.1_Missense_Mutation_p.Y201H|STK4_ENST00000396731.4_Missense_Mutation_p.Y201H	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	201	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.Y201H(2)		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)				GGAAATTGGATACAACTGTGT	0.448																																					GBM(187;1039 2137 11798 21916 33213)	GBM(187;1039 2137 11798 21916 33213)	uc002xnb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(601-603)TAC>CAC		serine/threonine kinase 4							144.0	138.0	140.0					20																	43623806		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.chr20:43623806T>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.601T>C	20.37:g.43623806T>C	ENSP00000361892:p.Tyr201His					STK4_uc010ggx.2_Missense_Mutation_p.Y201H|STK4_uc010ggy.2_Missense_Mutation_p.Y146H|STK4_uc010ggw.1_Missense_Mutation_p.Y201H	p.Y201H	NM_006282	NP_006273	Q13043	STK4_HUMAN			6	691	+		Myeloproliferative disorder(115;0.0122)	201			Protein kinase.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.601T>C	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.857739	0.71834	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.9	5.9	0.94986	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	0.47710	0.1460	M	0.70842	2.15	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.994;0.997;0.997	T	0.47983	-0.9074	10	0.87932	D	0	.	16.3317	0.83023	0.0:0.0:0.0:1.0	.	146;201;201;201	F5H5B4;Q13043-2;A0PJ51;Q13043	.;.;.;STK4_HUMAN	H	201;201;201;146	ENSP00000361892:Y201H;ENSP00000379957:Y201H;ENSP00000361887:Y201H;ENSP00000443514:Y146H	ENSP00000361887:Y201H	Y	+	1	0	STK4	43057220	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.587000	0.82613	2.264000	0.75181	0.533000	0.62120	TAC		0.448	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4	NM_006282		10	110	0	0	0	0.006214	0	10	110				
ARFGEF2	10564	broad.mit.edu	37	20	47604875	47604875	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr20:47604875G>T	ENST00000371917.4	+	17	2311	c.2311G>T	c.(2311-2313)Gtc>Ttc	p.V771F		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	771	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.V771F(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CACTGCTTATGTCCTAGCGTA	0.383																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|upper_aerodigestive_tract(1)	4						c.(2311-2313)GTC>TTC		ADP-ribosylation factor guanine							86.0	72.0	77.0					20																	47604875		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47604875G>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.2311G>T	20.37:g.47604875G>T	ENSP00000360985:p.Val771Phe					ARFGEF2_uc010zyf.1_Missense_Mutation_p.V64F	p.V771F	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		17	2463	+			771			SEC7.		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.2311G>T	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935257	0.92458	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.58358	0.34	5.53	5.53	0.82687	SEC7-like, alpha orthogonal bundle (1);Armadillo-type fold (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.77184	0.4093	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.80103	-0.1522	10	0.87932	D	0	.	19.8407	0.96681	0.0:0.0:1.0:0.0	.	771	Q9Y6D5	BIG2_HUMAN	F	771	ENSP00000360985:V771F	ENSP00000360985:V771F	V	+	1	0	ARFGEF2	47038282	1.000000	0.71417	0.941000	0.38009	0.751000	0.42716	7.972000	0.88022	2.763000	0.94921	0.563000	0.77884	GTC		0.383	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		7	45	1	0	1.12685e-05	0.004482	1.47621e-05	7	45				
TPTE	7179	broad.mit.edu	37	21	10969090	10969090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr21:10969090G>T	ENST00000361285.4	-	7	487	c.158C>A	c.(157-159)tCa>tAa	p.S53*	TPTE_ENST00000415664.2_Intron|TPTE_ENST00000298232.7_Intron|TPTE_ENST00000342420.5_Intron	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	53					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S53*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTGATAGGTGACACCCGGGC	0.448																																							uc002yip.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(157-159)TCA>TAA		transmembrane phosphatase with tensin homology							249.0	231.0	237.0					21																	10969090		2203	4300	6503	SO:0001587	stop_gained	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10969090G>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.158C>A	21.37:g.10969090G>T	ENSP00000355208:p.Ser53*					TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron	p.S53*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	7	526	-			53					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Nonsense_Mutation	SNP	ENST00000361285.4	37	c.158C>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069407	0.76301	.	.	ENSG00000166157	ENST00000361285;ENST00000328758	.	.	.	0.558	-0.945	0.10388	.	1.024840	0.07850	U	0.964446	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0405	.	.	.	.	.	.	.	X	53;35	.	ENSP00000399471:S35X	S	-	2	0	TPTE	9990961	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-1.703000	0.01900	-0.360000	0.08138	0.400000	0.26472	TCA		0.448	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			12	233	1	0	2.61681e-11	0.00245	4.18576e-11	12	233				
BAGE2	85319	broad.mit.edu	37	21	11098714	11098714	+	RNA	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr21:11098714C>A	ENST00000470054.1	-	0	211							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		actccagccgccatcttactg	0.622																																							uc002yit.1		NA																	0					0						c.(4-6)GCG>TCG		B melanoma antigen family, member 2 precursor							104.0	157.0	139.0					21																	11098714		2123	4244	6367			85319							g.chr21:11098714C>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098714C>A						BAGE_uc002yix.2_RNA	p.A2S	NM_182482	NP_872288			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	1	212	-								A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37	c.4G>T																																																																																					0.622	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		8	60	1	0	0.000274275	0.004482	0.00032922	8	60				
KRTAP13-2	337959	broad.mit.edu	37	21	31744512	31744512	+	Missense_Mutation	SNP	G	G	T	rs143324515	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr21:31744512G>T	ENST00000399889.2	-	1	45	c.20C>A	c.(19-21)tCt>tAt	p.S7Y		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	7						intermediate filament (GO:0005882)		p.S7Y(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GAAGTTTCCAGAGCAGCAGTT	0.502																																							uc002ynz.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(19-21)TCT>TAT		keratin associated protein 13-2							173.0	151.0	158.0					21																	31744512		2203	4300	6503	SO:0001583	missense	337959					intermediate filament		g.chr21:31744512G>T	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.20C>A	21.37:g.31744512G>T	ENSP00000382777:p.Ser7Tyr						p.S7Y	NM_181621	NP_853652	Q52LG2	KR132_HUMAN			1	46	-			7						Missense_Mutation	SNP	ENST00000399889.2	37	c.20C>A	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230420	0.58777	.	.	ENSG00000182816	ENST00000399889	T	0.07114	3.22	4.64	3.75	0.43078	.	0.166101	0.28273	N	0.015956	T	0.31358	0.0794	M	0.89601	3.045	0.23070	N	0.998346	D	0.71674	0.998	D	0.74023	0.982	T	0.12682	-1.0538	10	0.56958	D	0.05	.	9.5915	0.39548	0.1014:0.0:0.8986:0.0	.	7	Q52LG2	KR132_HUMAN	Y	7	ENSP00000382777:S7Y	ENSP00000382777:S7Y	S	-	2	0	KRTAP13-2	30666383	0.998000	0.40836	0.873000	0.34254	0.807000	0.45602	2.771000	0.47670	1.246000	0.43901	0.650000	0.86243	TCT		0.502	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			14	87	1	0	1.99824e-07	0.00499	2.77702e-07	14	87				
SON	6651	broad.mit.edu	37	21	34923232	34923232	+	Silent	SNP	G	G	T	rs146602176		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr21:34923232G>T	ENST00000356577.4	+	3	2170	c.1695G>T	c.(1693-1695)tcG>tcT	p.S565S	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Silent_p.S565S|SON_ENST00000300278.4_Silent_p.S565S|SON_ENST00000381679.4_Silent_p.S565S	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	565					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S565S(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GGCAGCCTTCGGTGACTGGGG	0.657																																							uc002yse.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(1693-1695)TCG>TCT		SON DNA-binding protein isoform F							33.0	36.0	35.0					21																	34923232		2199	4297	6496	SO:0001819	synonymous_variant	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923232G>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1695G>T	21.37:g.34923232G>T						SON_uc002ysb.1_Silent_p.S565S|SON_uc002ysc.2_Silent_p.S565S|SON_uc002ysd.2_5'UTR|SON_uc002ysf.1_Intron|SON_uc002ysg.2_5'Flank	p.S565S	NM_138927	NP_620305	P18583	SON_HUMAN			3	1744	+			565					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	37	c.1695G>T	CCDS13629.1																																																																																				0.657	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		9	30	1	0	0.00448238	0.004482	0.00496458	9	30				
PATZ1	23598	broad.mit.edu	37	22	31740992	31740992	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr22:31740992G>A	ENST00000266269.5	-	1	1226	c.597C>T	c.(595-597)agC>agT	p.S199S	PATZ1_ENST00000351933.4_Silent_p.S199S|PATZ1_ENST00000405309.3_Silent_p.S199S|AC005003.1_ENST00000504184.2_5'Flank|PATZ1_ENST00000215919.3_Silent_p.S199S	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	199					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S199S(2)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CGATGCCATTGCTGTTGGCTG	0.647																																							uc003akq.2		NA																EWSR1/PATZ1(2)	2	Substitution - coding silent(2)		lung(2)	soft_tissue(2)	2						c.(595-597)AGC>AGT		POZ (BTB) and AT hook containing zinc finger 1							45.0	47.0	46.0					22																	31740992		2203	4300	6503	SO:0001819	synonymous_variant	23598				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:31740992G>A	AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.597C>T	22.37:g.31740992G>A						PATZ1_uc003akp.2_Silent_p.S199S|PATZ1_uc003akr.2_Silent_p.S199S|PATZ1_uc003aks.2_Silent_p.S199S|uc003akt.2_5'Flank	p.S199S	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN			1	1258	-			199					Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	Silent	SNP	ENST00000266269.5	37	c.597C>T	CCDS13894.1																																																																																				0.647	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321932.1	NM_032052		17	27	0	0	0	0.004007	0	17	27				
SOX10	6663	broad.mit.edu	37	22	38369875	38369876	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr22:38369875_38369876GG>TT	ENST00000396884.2	-	4	1309_1310	c.1027_1028CC>AA	c.(1027-1029)CCc>AAc	p.P343N	SOX10_ENST00000360880.2_Missense_Mutation_p.P343N|POLR2F_ENST00000407936.1_Intron|POLR2F_ENST00000405557.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	343					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|transcription coactivator activity (GO:0003713)	p.P343N(1)		NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					TGAGACCGTGGGCAGAGCCACG	0.668																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	uc003aun.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1027-1029)CCC>AAC		SRY (sex determining region Y)-box 10																																				SO:0001583	missense	6663					cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity	g.chr22:38369875_38369876GG>TT		CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"""SRY (sex determining region Y)-boxes"""	11190	protein-coding gene	gene with protein product	"""dominant megacolon, mouse, human homolog of"""	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.1027_1028delinsTT	22.37:g.38369875_38369876delinsTT	ENSP00000380093:p.Pro343Asn					POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Missense_Mutation_p.P343N	p.P343N	NM_006941	NP_008872	P56693	SOX10_HUMAN			4	1305_1306	-	Melanoma(58;0.045)		343					B4DV62|Q6FHW7	Missense_Mutation	DNP	ENST00000396884.2	37	c.1027_1028CC>AA	CCDS13964.1																																																																																				0.668	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313875.1	NM_006941		7	25	0	0	0	0.004672	0	7	25				
SBF1	6305	broad.mit.edu	37	22	50902833	50902833	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr22:50902833G>A	ENST00000390679.3	-	15	1858	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	SBF1_ENST00000380817.3_Silent_p.N558N|SBF1_ENST00000348911.6_Silent_p.N559N			O95248	MTMR5_HUMAN	SET binding factor 1	558					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.N558K(2)|p.N558N(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGGGCGCTGTTGACATGCA	0.637																																							uc003blh.2		NA																	4	Substitution - Missense(2)|Substitution - coding silent(2)		lung(2)|kidney(2)		0						c.(1672-1674)AAC>AAT		SET binding factor 1							56.0	63.0	61.0					22																	50902833		2112	4219	6331	SO:0001819	synonymous_variant	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50902833G>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1674C>T	22.37:g.50902833G>A						SBF1_uc011arx.1_Silent_p.N222N|SBF1_uc003bli.2_Silent_p.N559N	p.N558N	NM_002972	NP_002963	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	15	1869	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	558					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Silent	SNP	ENST00000390679.3	37	c.1674C>T																																																																																					0.637	SBF1-201	KNOWN	basic	protein_coding	protein_coding				9	22	0	0	0	0.004482	0	9	22				
CNTN4	152330	broad.mit.edu	37	3	2924927	2924927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:2924927G>T	ENST00000397461.1	+	8	1135	c.751G>T	c.(751-753)Gga>Tga	p.G251*	CNTN4_ENST00000418658.1_Nonsense_Mutation_p.G251*|CNTN4_ENST00000358480.3_Nonsense_Mutation_p.G32*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.G251*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	251	Ig-like C2-type 3.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.G251*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTTTGCTTTAGGAAAGTAAGT	0.463																																							uc003bpc.2		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(751-753)GGA>TGA		contactin 4 isoform a precursor							99.0	105.0	103.0					3																	2924927		1965	4163	6128	SO:0001587	stop_gained	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2924927G>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.751G>T	3.37:g.2924927G>T	ENSP00000380602:p.Gly251*					CNTN4_uc003bpb.1_Intron|CNTN4_uc003bpd.1_Nonsense_Mutation_p.G251*	p.G251*	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	8	972	+		Ovarian(110;0.156)	251			Ig-like C2-type 3.		B2RAX3|Q8IX14|Q8TC35	Nonsense_Mutation	SNP	ENST00000397461.1	37	c.751G>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	42	9.594842	0.99214	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3489	0.90331	0.0:0.0:1.0:0.0	.	.	.	.	X	251;251;251;32	.	ENSP00000351267:G32X	G	+	1	0	CNTN4	2899927	1.000000	0.71417	0.962000	0.40283	0.890000	0.51754	9.191000	0.94940	2.408000	0.81797	0.655000	0.94253	GGA		0.463	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			4	26	1	0	0.00024832	0.009096	0.000299541	4	26				
IL17RE	132014	broad.mit.edu	37	3	9952837	9952838	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:9952837_9952838GC>AT	ENST00000383814.3	+	10	1110_1111	c.1005_1006GC>AT	c.(1003-1008)ctGCac>ctATac	p.H336Y	IL17RE_ENST00000295980.3_Missense_Mutation_p.H336Y|IL17RE_ENST00000454190.2_Missense_Mutation_p.H336Y|IL17RE_ENST00000421412.1_Missense_Mutation_p.H369Y	NM_153480.1	NP_705613.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	336					inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H336Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		AGGTGGACCTGCACCCCCAGCT	0.54																																							uc003btu.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1003-1008)CTGCAC>CTATAC		interleukin 17 receptor E isoform 1																																				SO:0001583	missense	132014					cytoplasm|extracellular region|integral to membrane	receptor activity	g.chr3:9952837_9952838GC>AT	AF458069	CCDS2589.1, CCDS54552.1	3p25.3	2008-02-05			ENSG00000163701	ENSG00000163701		"""Interleukins and interleukin receptors"""	18439	protein-coding gene	gene with protein product		614995					Standard	NM_153480		Approved	FLJ23658	uc003btu.3	Q8NFR9	OTTHUMG00000128649	Exception_encountered	3.37:g.9952837_9952838delinsAT	ENSP00000373325:p.His336Tyr					CIDEC_uc003bto.2_Intron|IL17RE_uc011atn.1_RNA|IL17RE_uc003btw.2_Missense_Mutation_p.H336Y|IL17RE_uc003btx.2_Missense_Mutation_p.H220Y|IL17RE_uc010hcq.2_Missense_Mutation_p.H336Y|IL17RE_uc003bty.2_RNA	p.H336Y	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)	11	1122_1123	+			336			Extracellular (Potential).		B2RB34|B2RNR1|B9EH65|Q6P532|Q8N8H7|Q8N8H8|Q8TEC2	Missense_Mutation	DNP	ENST00000383814.3	37	c.1005_1006GC>AT	CCDS2589.1																																																																																				0.540	IL17RE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250529.1	NM_153480		16	141	0	0	0	0.004672	0	16	141				
SH3BP5	9467	broad.mit.edu	37	3	15311335	15311335	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:15311335T>A	ENST00000383791.3	-	4	600	c.380A>T	c.(379-381)gAg>gTg	p.E127V	SH3BP5_ENST00000408919.3_5'UTR|SH3BP5_ENST00000426925.1_5'UTR|SH3BP5_ENST00000465894.2_5'Flank|SH3BP5_ENST00000253688.5_5'UTR	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	127					intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	protein kinase inhibitor activity (GO:0004860)	p.E127V(1)		NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						ACGGAGCACCTCTGTGGCCCT	0.612																																							uc003bzp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(379-381)GAG>GTG		SH3-domain binding protein 5 (BTK-associated)							114.0	117.0	116.0					3																	15311335		2203	4300	6503	SO:0001583	missense	9467				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding	g.chr3:15311335T>A	AB005047	CCDS2625.2, CCDS43055.1	3p24.3	2008-07-10			ENSG00000131370	ENSG00000131370			10827	protein-coding gene	gene with protein product	"""SH3 binding protein"""	605612				9571151, 10339589	Standard	NM_004844		Approved	Sab	uc003bzp.2	O60239	OTTHUMG00000129859	ENST00000383791.3:c.380A>T	3.37:g.15311335T>A	ENSP00000373301:p.Glu127Val					SH3BP5_uc010hem.1_Intron|SH3BP5_uc003bzq.1_5'UTR|SH3BP5_uc003bzr.1_5'UTR	p.E127V	NM_004844	NP_004835	O60239	3BP5_HUMAN			4	569	-			127					B3KQW6|Q5JWV9	Missense_Mutation	SNP	ENST00000383791.3	37	c.380A>T	CCDS2625.2	.	.	.	.	.	.	.	.	.	.	T	20.6	4.009841	0.75046	.	.	ENSG00000131370	ENST00000383791	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.79299	0.4422	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.82364	-0.0494	9	0.87932	D	0	-32.967	15.1609	0.72785	0.0:0.0:0.0:1.0	.	127	O60239	3BP5_HUMAN	V	127	.	ENSP00000373301:E127V	E	-	2	0	SH3BP5	15286339	1.000000	0.71417	0.995000	0.50966	0.188000	0.23474	7.929000	0.87595	2.063000	0.61619	0.454000	0.30748	GAG		0.612	SH3BP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340740.2	NM_004844		27	123	0	0	0	0.003271	0	27	123				
GADL1	339896	broad.mit.edu	37	3	30880603	30880603	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:30880603C>A	ENST00000282538.5	-	9	939	c.789G>T	c.(787-789)ggG>ggT	p.G263G	GADL1_ENST00000454381.3_Silent_p.G263G	NM_207359.2	NP_997242.2	Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	263					carboxylic acid metabolic process (GO:0019752)		aspartate 1-decarboxylase activity (GO:0004068)|pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)	p.G263G(1)|p.G79G(1)		breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25						ACGGTGCTGCCCCCTGTAAGA	0.448																																							uc003cep.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(787-789)GGG>GGT		glutamate decarboxylase-like 1	Pyridoxal Phosphate(DB00114)						80.0	75.0	77.0					3																	30880603		2203	4300	6503	SO:0001819	synonymous_variant	339896				carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	g.chr3:30880603C>A	AK128643	CCDS2649.2	3p23-p22	2009-01-14			ENSG00000144644	ENSG00000144644			27949	protein-coding gene	gene with protein product		615601					Standard	NM_207359		Approved		uc003cep.2	Q6ZQY3	OTTHUMG00000130621	ENST00000282538.5:c.789G>T	3.37:g.30880603C>A						GADL1_uc003ceq.1_Silent_p.G263G	p.G263G	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN			9	836	-			263						Silent	SNP	ENST00000282538.5	37	c.789G>T	CCDS2649.2																																																																																				0.448	GADL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253106.2	NM_207359		13	54	1	0	1.5842e-08	0.001855	2.29772e-08	13	54				
MLH1	4292	broad.mit.edu	37	3	37038135	37038135	+	Missense_Mutation	SNP	C	C	G	rs587778913		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:37038135C>G	ENST00000231790.2	+	2	358	c.142C>G	c.(142-144)Caa>Gaa	p.Q48E	MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000435176.1_5'UTR|MLH1_ENST00000536378.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	48					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.Q48E(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						CACAAGTATTCAAGTGATTGT	0.378		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														uc003cgl.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	D|Mis|N|F|S	E.coli MutL homolog gene			"""E, O"""		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		1	Substitution - Missense(1)		lung(1)	large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						c.(142-144)CAA>GAA	MMR	MutL protein homolog 1							111.0	111.0	111.0					3																	37038135		2203	4300	6503	SO:0001583	missense	4292	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37038135C>G	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.142C>G	3.37:g.37038135C>G	ENSP00000231790:p.Gln48Glu					MLH1_uc011aye.1_5'UTR|MLH1_uc011ayb.1_Intron|MLH1_uc010hge.2_Missense_Mutation_p.Q48E|MLH1_uc003cgn.3_5'UTR|MLH1_uc011ayc.1_5'UTR|MLH1_uc011ayd.1_5'UTR|MLH1_uc003cgo.2_5'UTR	p.Q48E	NM_000249	NP_000240	P40692	MLH1_HUMAN			2	202	+			48					B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.142C>G	CCDS2663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.553923|4.553923	0.86231|0.86231	.|.	.|.	ENSG00000076242|ENSG00000076242	ENST00000456676|ENST00000231790;ENST00000436867;ENST00000537937	.|D	.|0.94497	.|-3.44	5.85|5.85	5.85|5.85	0.93711|0.93711	.|DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (4);	.|0.105878	.|0.64402	.|D	.|0.000003	D|D	0.94251|0.94251	0.8154|0.8154	L|L	0.33792|0.33792	1.035|1.035	0.80722|0.80722	D|D	1|1	.|P;P	.|0.51933	.|0.624;0.949	.|P;P	.|0.55508	.|0.506;0.777	D|D	0.92577|0.92577	0.6071|0.6071	5|10	.|0.27082	.|T	.|0.32	-13.6867|-13.6867	18.9356|18.9356	0.92584|0.92584	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|48;48	.|Q53GX1;P40692	.|.;MLH1_HUMAN	L|E	39|48;14;14	.|ENSP00000231790:Q48E	.|ENSP00000231790:Q48E	F|Q	+|+	3|1	2|0	MLH1|MLH1	37013139|37013139	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.085000|7.085000	0.76875|0.76875	2.763000|2.763000	0.94921|0.94921	0.637000|0.637000	0.83480|0.83480	TTC|CAA		0.378	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		8	55	0	0	0	0.00308	0	8	55				
SCN10A	6336	broad.mit.edu	37	3	38760296	38760296	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:38760296C>A	ENST00000449082.2	-	20	3528	c.3529G>T	c.(3529-3531)Gac>Tac	p.D1177Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1177					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.D1177Y(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GGCTTCTGGTCCAGGTAATAG	0.532																																							uc003ciq.2		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(3529-3531)GAC>TAC		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						58.0	57.0	57.0					3																	38760296		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38760296C>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3529G>T	3.37:g.38760296C>A	ENSP00000390600:p.Asp1177Tyr						p.D1177Y	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	20	3529	-			1177			III.		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.3529G>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694786	0.30052	.	.	ENSG00000185313	ENST00000449082	D	0.97430	-4.38	4.2	3.33	0.38152	.	0.442914	0.24993	N	0.033965	D	0.94775	0.8313	M	0.76433	2.335	0.19300	N	0.999971	P	0.44946	0.846	B	0.38880	0.284	D	0.90562	0.4516	10	0.87932	D	0	.	5.2843	0.15692	0.0:0.6045:0.1628:0.2327	.	1177	Q9Y5Y9	SCNAA_HUMAN	Y	1177	ENSP00000390600:D1177Y	ENSP00000390600:D1177Y	D	-	1	0	SCN10A	38735300	0.884000	0.30299	0.870000	0.34147	0.236000	0.25371	1.628000	0.37060	0.978000	0.38470	-0.140000	0.14226	GAC		0.532	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		10	25	1	0	2.17888e-05	0.006214	2.81406e-05	10	25				
SCN11A	11280	broad.mit.edu	37	3	38936142	38936142	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:38936142G>T	ENST00000302328.3	-	15	2915	c.2717C>A	c.(2716-2718)aCc>aAc	p.T906N	SCN11A_ENST00000450244.1_Missense_Mutation_p.T906N|SCN11A_ENST00000444237.2_Missense_Mutation_p.T906N|SCN11A_ENST00000456224.3_Missense_Mutation_p.T906N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	906					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.T906N(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GACGCCCAGGGTCTTTGGTAC	0.502																																							uc011ays.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(2716-2718)ACC>AAC		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						131.0	124.0	127.0					3																	38936142		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38936142G>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.2717C>A	3.37:g.38936142G>T	ENSP00000307599:p.Thr906Asn					SCN11A_uc010hhn.1_Missense_Mutation_p.T22N	p.T906N	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	15	2916	-			906					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.2717C>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	7.285	0.609843	0.14066	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	4.9	1.72	0.24424	Sodium ion transport-associated (1);	17.380100	0.00582	N	0.000321	T	0.69682	0.3138	N	0.11927	0.2	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.58289	-0.7662	10	0.33141	T	0.24	.	4.9176	0.13853	0.2608:0.0:0.5723:0.1669	.	906	Q9UI33	SCNBA_HUMAN	N	906	ENSP00000307599:T906N;ENSP00000400945:T906N;ENSP00000416757:T906N;ENSP00000408028:T906N	ENSP00000307599:T906N	T	-	2	0	SCN11A	38911146	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	0.291000	0.18994	1.028000	0.39785	0.650000	0.86243	ACC		0.502	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		15	107	1	0	6.31663e-08	0.003163	8.93125e-08	15	107				
RPL14	9045	broad.mit.edu	37	3	40503438	40503438	+	Silent	SNP	A	A	G	rs145518013		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:40503438A>G	ENST00000396203.2	+	6	495	c.363A>G	c.(361-363)agA>agG	p.R121R	RPL14_ENST00000338970.6_Silent_p.R121R|RPL14_ENST00000416518.1_Missense_Mutation_p.N121D	NM_001034996.2	NP_001030168.1	P50914	RL14_HUMAN	ribosomal protein L14	121					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.R121R(1)							KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGAGGAACAGAATAATCAAGA	0.378																																							uc003ckg.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(361-363)AGA>AGG		ribosomal protein L14							25.0	28.0	27.0					3																	40503438		2174	4211	6385	SO:0001819	synonymous_variant	9045				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr3:40503438A>G	D87735	CCDS33739.1, CCDS43070.1	3p22-p21.2	2008-07-18			ENSG00000188846	ENSG00000188846		"""L ribosomal proteins"""	10305	protein-coding gene	gene with protein product	"""CAG-ISL 7"", ""60S ribosomal protein L14"""					9480843	Standard	NM_003973		Approved	L14, hRL14, RL14, CTG-B33	uc003ckg.4	P50914	OTTHUMG00000156046	ENST00000396203.2:c.363A>G	3.37:g.40503438A>G						RPL14_uc003ckh.2_Silent_p.R121R|RPL14_uc003cki.2_Silent_p.R72R	p.R121R	NM_003973	NP_003964	P50914	RL14_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	6	414	+			121					Q45RF0|Q53G20|Q8TBD5|Q8WUT0|Q92579|Q96GR0|Q9BSB8|Q9BW65|Q9BYF6	Silent	SNP	ENST00000396203.2	37	c.363A>G	CCDS43070.1	.	.	.	.	.	.	.	.	.	.	A	11.72	1.723766	0.30593	.	.	ENSG00000188846	ENST00000416518	.	.	.	4.43	0.715	0.18186	.	.	.	.	.	T	0.13243	0.0321	.	.	.	0.19300	N	0.999975	.	.	.	.	.	.	T	0.31475	-0.9942	5	0.06365	T	0.9	.	6.3214	0.21219	0.6815:0.0:0.3185:0.0	.	.	.	.	D	121	.	ENSP00000391446:N121D	N	+	1	0	RPL14	40478442	1.000000	0.71417	0.931000	0.37212	0.989000	0.77384	1.055000	0.30467	-0.050000	0.13356	-0.270000	0.10280	AAT		0.378	RPL14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342889.2	NM_003973		3	32	0	0	0	0.004672	0	3	32				
MST1R	4486	broad.mit.edu	37	3	49928939	49928939	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:49928939C>T	ENST00000296474.3	-	16	3454	c.3427G>A	c.(3427-3429)Gtg>Atg	p.V1143M	MST1R_ENST00000344206.4_Missense_Mutation_p.V1094M	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1143	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)	p.V1143M(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AGAGCCAGCACATTCGGGTGG	0.607																																							uc003cxy.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)	6						c.(3427-3429)GTG>ATG		macrophage stimulating 1 receptor precursor							105.0	95.0	98.0					3																	49928939		2203	4300	6503	SO:0001583	missense	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49928939C>T	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3427G>A	3.37:g.49928939C>T	ENSP00000296474:p.Val1143Met					MST1R_uc011bdc.1_Missense_Mutation_p.V22M	p.V1143M	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	16	3691	-			1143			Cytoplasmic (Potential).|Protein kinase.		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	37	c.3427G>A	CCDS2807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.35|18.35	3.604984|3.604984	0.66445|0.66445	.|.	.|.	ENSG00000164078|ENSG00000164078	ENST00000434765;ENST00000440292|ENST00000296474;ENST00000344206	.|T;T	.|0.40476	.|1.03;1.03	5.08|5.08	4.2|4.2	0.49525|0.49525	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.170048	.|0.52532	.|D	.|0.000080	T|T	0.66616|0.66616	0.2807|0.2807	M|M	0.90542|0.90542	3.125|3.125	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.53745	.|0.962	.|P	.|0.60886	.|0.88	T|T	0.74688|0.74688	-0.3581|-0.3581	5|10	.|0.87932	.|D	.|0	-11.1319|-11.1319	12.9114|12.9114	0.58182|0.58182	0.0:0.9209:0.0:0.0791|0.0:0.9209:0.0:0.0791	.|.	.|1143	.|Q04912	.|RON_HUMAN	I|M	120;163|1143;1094	.|ENSP00000296474:V1143M;ENSP00000341325:V1094M	.|ENSP00000296474:V1143M	M|V	-|-	3|1	0|0	MST1R|MST1R	49903943|49903943	0.993000|0.993000	0.37304|0.37304	0.108000|0.108000	0.21378|0.21378	0.479000|0.479000	0.33129|0.33129	3.098000|3.098000	0.50259|0.50259	1.385000|1.385000	0.46445|0.46445	0.632000|0.632000	0.83419|0.83419	ATG|GTG		0.607	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			16	51	0	0	0	0.007413	0	16	51				
NEK4	6787	broad.mit.edu	37	3	52802407	52802407	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:52802407G>A	ENST00000233027.5	-	2	509	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	NEK4_ENST00000535191.1_Intron|NEK4_ENST00000383721.4_Silent_p.L103L	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.L103L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TTCTCAGGCAGAAGCTGCCCT	0.498																																							uc003dfq.3		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(307-309)CTG>TTG		NIMA-related kinase 4							209.0	193.0	198.0					3																	52802407		2203	4300	6503	SO:0001819	synonymous_variant	6787				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:52802407G>A	L20321	CCDS2863.1, CCDS54593.1	3p21.1	2012-11-15	2012-11-15	2002-05-10	ENSG00000114904	ENSG00000114904	2.7.11.1		11399	protein-coding gene	gene with protein product	"""serine/threonine protein kinase-2"""	601959	"""serine/threonine kinase 2"", ""NIMA (never in mitosis gene a)-related kinase 4"""	STK2		8208544	Standard	NM_001193533		Approved	NRK2, pp12301	uc003dfq.4	P51957	OTTHUMG00000158836	ENST00000233027.5:c.307C>T	3.37:g.52802407G>A						NEK4_uc011bej.1_Intron|NEK4_uc003dfr.2_Silent_p.L103L	p.L103L	NM_003157	NP_003148	P51957	NEK4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)	2	496	-			103			Protein kinase.		A5YM70|B2R633|B7Z200|Q6P576	Silent	SNP	ENST00000233027.5	37	c.307C>T	CCDS2863.1																																																																																				0.498	NEK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352386.2	NM_003157		18	212	0	0	0	0.007413	0	18	212				
FAM86DP	692099	broad.mit.edu	37	3	75476723	75476723	+	RNA	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:75476723C>A	ENST00000459803.1	-	0	633					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.G198G(1)									GAAGGACATTCCCTCGGAGCT	0.612																																							uc003dpp.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(340-342)GGG>GGT		RecName: Full=Protein FAM86B1;																																						692099							g.chr3:75476723C>A	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75476723C>A						FAM86D_uc003dpo.3_Intron|FAM86D_uc003dps.3_Intron|FAM86D_uc003dpq.3_Silent_p.G22G|FAM86D_uc003dpr.3_Intron	p.G114G	NR_024241						6	701	-									Silent	SNP	ENST00000459803.1	37	c.342G>T																																																																																					0.612	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		5	39	1	0	1.12685e-05	0.004482	1.47621e-05	5	39				
EPHA3	2042	broad.mit.edu	37	3	89390204	89390204	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:89390204C>A	ENST00000336596.2	+	4	1178	c.953C>A	c.(952-954)cCa>cAa	p.P318Q	EPHA3_ENST00000452448.2_Missense_Mutation_p.P318Q|EPHA3_ENST00000494014.1_Missense_Mutation_p.P318Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	318	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.P318Q(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAAGACCCTCCATCCATGGCT	0.443										TSP Lung(6;0.00050)																													uc003dqy.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(952-954)CCA>CAA		ephrin receptor EphA3 isoform a precursor							152.0	152.0	152.0					3																	89390204		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89390204C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.953C>A	3.37:g.89390204C>A	ENSP00000337451:p.Pro318Gln	TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Missense_Mutation_p.P318Q|EPHA3_uc010hon.1_RNA	p.P318Q	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	4	1178	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	318			Extracellular (Potential).|Cys-rich.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.953C>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431241	0.43122	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.72942	-0.68;2.75;-0.7	6.17	6.17	0.99709	.	0.103160	0.64402	D	0.000002	T	0.81664	0.4870	M	0.81682	2.555	0.46149	D	0.998893	P;P	0.47034	0.877;0.889	B;P	0.51135	0.368;0.66	T	0.80336	-0.1425	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	318;318	P29320;P29320-2	EPHA3_HUMAN;.	Q	318	ENSP00000337451:P318Q;ENSP00000399926:P318Q;ENSP00000419190:P318Q	.	P	+	2	0	EPHA3	89472894	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.122000	0.50446	2.941000	0.99782	0.655000	0.94253	CCA		0.443	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		18	137	1	0	5.03518e-11	0.007413	8.019e-11	18	137				
EPHA3	2042	broad.mit.edu	37	3	89391113	89391113	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:89391113G>T	ENST00000336596.2	+	5	1404	c.1179G>T	c.(1177-1179)acG>acT	p.T393T	EPHA3_ENST00000452448.2_Silent_p.T393T|EPHA3_ENST00000494014.1_Silent_p.T393T	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	393	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.T393T(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCAACACCACGGTGACAGTGA	0.483										TSP Lung(6;0.00050)																													uc003dqy.2		NA																	2	Substitution - coding silent(2)	p.T393K(1)	lung(2)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(1177-1179)ACG>ACT		ephrin receptor EphA3 isoform a precursor							103.0	88.0	93.0					3																	89391113		2203	4300	6503	SO:0001819	synonymous_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89391113G>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1179G>T	3.37:g.89391113G>T		TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Silent_p.T393T|EPHA3_uc010hon.1_RNA	p.T393T	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	5	1404	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	393			Extracellular (Potential).|Fibronectin type-III 1.		Q9H2V3|Q9H2V4	Silent	SNP	ENST00000336596.2	37	c.1179G>T	CCDS2922.1																																																																																				0.483	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		16	46	1	0	6.31663e-08	0.003163	8.93125e-08	16	46				
CPOX	1371	broad.mit.edu	37	3	98299562	98299563	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:98299562_98299563CC>AA	ENST00000264193.2	-	7	1547_1548	c.1329_1330GG>TT	c.(1327-1332)ctGGaa>ctTTaa	p.E444*		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	444					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)	p.E444*(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CGTAGAACTTCCAGAATTTCAG	0.485																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	Esophageal Squamous(75;7 1223 22300 43648 48951)	uc003dsx.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1327-1332)CTGGAA>CTTTAA		coproporphyrinogen oxidase precursor																																				SO:0001587	stop_gained	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98299562_98299563CC>AA	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"""coproporphyria"""	612732	"""coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"""	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.1329_1330delinsAA	3.37:g.98299562_98299563delinsAA	ENSP00000264193:p.Glu444*						p.E444*	NM_000097	NP_000088	P36551	HEM6_HUMAN			7	1422_1423	-			444					A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Nonsense_Mutation	DNP	ENST00000264193.2	37	c.1329_1330GG>TT	CCDS2932.1																																																																																				0.485	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		3	43	0	0	0	0.004672	0	3	43				
POLQ	10721	broad.mit.edu	37	3	121208671	121208671	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:121208671C>T	ENST00000264233.5	-	16	3235	c.3107G>A	c.(3106-3108)aGc>aAc	p.S1036N		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1036					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.S1171N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAAACTTCTGCTCATCTTTTC	0.408								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(3106-3108)AGC>AAC	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							66.0	73.0	71.0					3																	121208671		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208671C>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.3107G>A	3.37:g.121208671C>T	ENSP00000264233:p.Ser1036Asn					POLQ_uc003eed.2_Missense_Mutation_p.S208N	p.S1036N	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3236	-			1036					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.3107G>A	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.490183	0.01018	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.48201	0.82	5.11	-6.17	0.02091	.	0.961848	0.08694	N	0.907531	T	0.17023	0.0409	N	0.12746	0.255	0.09310	N	1	B;B	0.15141	0.012;0.001	B;B	0.11329	0.006;0.004	T	0.33777	-0.9855	10	0.02654	T	1	.	2.1319	0.03752	0.2287:0.1391:0.1138:0.5184	.	1036;208	O75417;O75417-2	DPOLQ_HUMAN;.	N	659;1036;1172	ENSP00000264233:S1036N	ENSP00000264233:S1036N	S	-	2	0	POLQ	122691361	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.263000	0.02850	-0.706000	0.05028	-0.311000	0.09066	AGC		0.408	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		5	77	0	0	0	0.000602	0	5	77				
GOLGB1	2804	broad.mit.edu	37	3	121411320	121411320	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:121411320C>A	ENST00000340645.5	-	14	7001	c.6876G>T	c.(6874-6876)caG>caT	p.Q2292H	GOLGB1_ENST00000393667.3_Missense_Mutation_p.Q2297H	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2292					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Q2292H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTCTTCTAGCTGGGACAAAA	0.443																																							uc003eei.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(6874-6876)CAG>CAT		golgi autoantigen, golgin subfamily b,							104.0	104.0	104.0					3																	121411320		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121411320C>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.6876G>T	3.37:g.121411320C>A	ENSP00000341848:p.Gln2292His					GOLGB1_uc010hrc.2_Missense_Mutation_p.Q2297H|GOLGB1_uc003eej.3_Missense_Mutation_p.Q2258H	p.Q2292H	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	14	7002	-			2292			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.6876G>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704262	0.30232	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.16324	2.35;2.35	5.91	3.2	0.36748	.	0.211654	0.33553	N	0.004794	T	0.34716	0.0907	M	0.62723	1.935	0.43965	D	0.996642	D;D;D	0.71674	0.995;0.995;0.998	P;P;D	0.80764	0.874;0.874;0.994	T	0.01819	-1.1267	10	0.54805	T	0.06	.	9.4595	0.38776	0.0:0.7702:0.0:0.2298	.	2297;2297;2292	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	H	2292;2297	ENSP00000341848:Q2292H;ENSP00000377275:Q2297H	ENSP00000341848:Q2292H	Q	-	3	2	GOLGB1	122894010	0.998000	0.40836	0.879000	0.34478	0.955000	0.61496	0.663000	0.25053	0.418000	0.25898	0.655000	0.94253	CAG		0.443	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		15	88	1	0	1.15088e-07	0.004007	1.60552e-07	15	88				
CASR	846	broad.mit.edu	37	3	121980463	121980463	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:121980463C>T	ENST00000490131.1	+	4	953	c.581C>T	c.(580-582)gCc>gTc	p.A194V	CASR_ENST00000498619.1_Missense_Mutation_p.A194V|CASR_ENST00000296154.5_Missense_Mutation_p.A194V	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	194					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.A194V(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GAGCACCAGGCCACTGCCATG	0.532																																							uc003eev.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(580-582)GCC>GTC		calcium-sensing receptor precursor	Cinacalcet(DB01012)						124.0	130.0	128.0					3																	121980463		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121980463C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.581C>T	3.37:g.121980463C>T	ENSP00000418685:p.Ala194Val					CASR_uc003eew.3_Missense_Mutation_p.A194V	p.A194V	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	4	953	+			194			Extracellular (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.581C>T	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485932	0.44147	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.84146	-1.81;-1.81;-1.81	5.78	5.78	0.91487	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.89455	0.6720	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.966	D	0.84245	0.0474	10	0.13108	T	0.6	.	19.3632	0.94451	0.0:1.0:0.0:0.0	.	194;194	E7ENE0;P41180	.;CASR_HUMAN	V	194	ENSP00000418685:A194V;ENSP00000420194:A194V;ENSP00000296154:A194V	ENSP00000296154:A194V	A	+	2	0	CASR	123463153	1.000000	0.71417	1.000000	0.80357	0.678000	0.39670	7.776000	0.85560	2.894000	0.99253	0.591000	0.81541	GCC		0.532	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		51	109	0	0	0	0.00361	0	51	109				
PARP14	54625	broad.mit.edu	37	3	122432421	122432421	+	Splice_Site	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:122432421G>T	ENST00000474629.2	+	10	4035		c.e10+1			NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.?(2)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTCAAAGCAGGTACTTGTACA	0.373																																							uc003efq.3		NA																	2	Unknown(2)		lung(2)	ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.e10+1		poly (ADP-ribose) polymerase family, member 14							76.0	72.0	73.0					3																	122432421		1857	4100	5957	SO:0001630	splice_region_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122432421G>T	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3769+1G>T	3.37:g.122432421G>T						PARP14_uc010hrk.2_Splice_Site|PARP14_uc003efr.2_Splice_Site_p.G974_splice|PARP14_uc003efs.1_Splice_Site_p.G974_splice	p.G1257_splice	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	10	3828	+								B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Splice_Site	SNP	ENST00000474629.2	37	c.3769_splice	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.859167	0.32884	.	.	ENSG00000173193	ENST00000474629;ENST00000398157	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5692	0.87930	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PARP14	123915111	1.000000	0.71417	0.999000	0.59377	0.128000	0.20619	7.955000	0.87856	2.745000	0.94114	0.650000	0.86243	.		0.373	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554	Intron	17	40	1	0	7.21436e-19	0.008871	1.27077e-18	17	40				
KALRN	8997	broad.mit.edu	37	3	124066000	124066000	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:124066000G>A	ENST00000240874.3	+	10	1809	c.1652G>A	c.(1651-1653)tGg>tAg	p.W551*	KALRN_ENST00000460856.1_Nonsense_Mutation_p.W551*|KALRN_ENST00000360013.3_Nonsense_Mutation_p.W551*	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	551					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.W551*(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GTGTTGGACTGGATTGAAAAC	0.488																																							uc003ehg.2		NA																	2	Substitution - Nonsense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(1651-1653)TGG>TAG		kalirin, RhoGEF kinase isoform 1							215.0	199.0	204.0					3																	124066000		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124066000G>A	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1652G>A	3.37:g.124066000G>A	ENSP00000240874:p.Trp551*					KALRN_uc010hrv.1_Nonsense_Mutation_p.W551*|KALRN_uc003ehf.1_Nonsense_Mutation_p.W551*|KALRN_uc011bjy.1_Nonsense_Mutation_p.W551*	p.W551*	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			10	1779	+			551			Spectrin 3.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000240874.3	37	c.1652G>A	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	9.016281|9.016281	0.99037|0.99037	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000460856;ENST00000240874;ENST00000360013;ENST00000439170	.|.	.|.	.|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.47229|.	0.1434|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34079|.	-0.9843|.	4|.	.|0.02654	.|T	.|1	.|.	19.1727|19.1727	0.93585|0.93585	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	R|X	529|551;551;551;27	.|.	.|ENSP00000240874:W551X	G|W	+|+	1|2	0|0	KALRN|KALRN	125548690|125548690	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.310000|9.310000	0.96267|0.96267	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.488	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		45	142	0	0	0	0.00361	0	45	142				
ACPP	55	broad.mit.edu	37	3	132063770	132063770	+	Splice_Site	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:132063770G>C	ENST00000336375.5	+	7	738		c.e7-1		ACPP_ENST00000351273.7_Splice_Site|ACPP_ENST00000475741.1_Splice_Site	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate						adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)	p.?(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CTTTGCTACAGAGTGTTCACA	0.413																																							uc010htp.2		NA																	2	Unknown(2)		lung(2)	ovary(1)	1						c.e7-1		acid phosphatase, prostate short isoform							112.0	104.0	107.0					3																	132063770		2203	4300	6503	SO:0001630	splice_region_variant	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132063770G>C		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.649-1G>C	3.37:g.132063770G>C						ACPP_uc003eon.3_Splice_Site_p.S184_splice|ACPP_uc003eop.3_Splice_Site_p.S217_splice	p.S217_splice	NM_001099	NP_001090	P15309	PPAP_HUMAN			7	739	+								D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Splice_Site	SNP	ENST00000336375.5	37	c.649_splice	CCDS3073.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511305	0.64522	.	.	ENSG00000014257	ENST00000336375;ENST00000475741;ENST00000351273	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7867	0.85575	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACPP	133546460	1.000000	0.71417	0.571000	0.28486	0.949000	0.60115	5.586000	0.67503	2.565000	0.86533	0.557000	0.71058	.		0.413	ACPP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356699.2	NM_001099	Intron	5	75	0	0	0	0.001168	0	5	75				
COPB2	9276	broad.mit.edu	37	3	139096978	139096978	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:139096978C>G	ENST00000333188.5	-	5	590	c.409G>C	c.(409-411)Gtg>Ctg	p.V137L	COPB2_ENST00000510491.1_5'Flank|COPB2_ENST00000507777.1_Missense_Mutation_p.V108L	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	137					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)	p.V137L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CCTTCAAACACTTGTGAGCAA	0.398																																							uc003etf.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(409-411)GTG>CTG		coatomer protein complex, subunit beta 2 (beta							252.0	230.0	237.0					3																	139096978		2203	4300	6503	SO:0001583	missense	9276				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	g.chr3:139096978C>G	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.409G>C	3.37:g.139096978C>G	ENSP00000329419:p.Val137Leu					COPB2_uc011bmv.1_Missense_Mutation_p.V108L|COPB2_uc010hui.2_Missense_Mutation_p.V108L|COPB2_uc011bmw.1_Missense_Mutation_p.V137L	p.V137L	NM_004766	NP_004757	P35606	COPB2_HUMAN			5	539	-			137					B4DZI8	Missense_Mutation	SNP	ENST00000333188.5	37	c.409G>C	CCDS3108.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910378	0.92107	.	.	ENSG00000184432	ENST00000333188;ENST00000507777;ENST00000512153	T;T;D	0.81499	0.01;0.01;-1.5	5.35	5.35	0.76521	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79540	0.4463	L	0.48362	1.52	0.80722	D	1	B;B	0.23540	0.005;0.087	B;B	0.30572	0.033;0.117	T	0.76683	-0.2869	10	0.59425	D	0.04	-16.242	19.0522	0.93051	0.0:1.0:0.0:0.0	.	137;137	B4E2C9;P35606	.;COPB2_HUMAN	L	137;108;108	ENSP00000329419:V137L;ENSP00000422295:V108L;ENSP00000422547:V108L	ENSP00000329419:V137L	V	-	1	0	COPB2	140579668	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.704000	0.84595	2.492000	0.84095	0.650000	0.86243	GTG		0.398	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358495.2	NM_004766		61	177	0	0	0	0.00361	0	61	177				
TRIM42	287015	broad.mit.edu	37	3	140406835	140406835	+	Silent	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:140406835T>C	ENST00000286349.3	+	3	1502	c.1311T>C	c.(1309-1311)acT>acC	p.T437T		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	437	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.T437T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGAAGGAGACTGGCCAGGTGG	0.537																																							uc003eto.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(1309-1311)ACT>ACC		tripartite motif-containing 42							70.0	62.0	64.0					3																	140406835		2203	4300	6503	SO:0001819	synonymous_variant	287015					intracellular	zinc ion binding	g.chr3:140406835T>C	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.1311T>C	3.37:g.140406835T>C							p.T437T	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			3	1502	+			437			COS.		A1L4B4|Q8N832|Q8NDL3	Silent	SNP	ENST00000286349.3	37	c.1311T>C	CCDS3113.1																																																																																				0.537	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		11	25	0	0	0	0.008291	0	11	25				
P2RY12	64805	broad.mit.edu	37	3	151055929	151055929	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:151055929G>A	ENST00000302632.3	-	3	1004	c.705C>T	c.(703-705)aaC>aaT	p.N235N	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	235					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell projection organization (GO:0030030)|G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)|G-protein coupled receptor signaling pathway (GO:0007186)|hemostasis (GO:0007599)|negative regulation of cell differentiation (GO:0045596)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of GTPase activity (GO:0043547)|positive regulation of ion transport (GO:0043270)|potassium ion transmembrane transport (GO:0071805)|protein kinase B signaling (GO:0043491)|regulation of calcium ion transport (GO:0051924)	basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	ADP receptor activity (GO:0001621)|G-protein coupled adenosine receptor activity (GO:0001609)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.N235N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Prasugrel(DB06209)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Treprostinil(DB00374)	AAACTTTGACGTTCACCTTTT	0.388																																							uc003eyw.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(703-705)AAC>AAT		purinergic receptor P2Y12	Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)						73.0	76.0	75.0					3																	151055929		2203	4300	6503	SO:0001819	synonymous_variant	64805				platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr3:151055929G>A	AJ320495	CCDS3159.1	3q24-q25	2014-09-17			ENSG00000169313	ENSG00000169313		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	18124	protein-coding gene	gene with protein product		600515				11502873, 11104774	Standard	NM_022788		Approved	P2Y12, SP1999, HORK3	uc003eyw.1	Q9H244	OTTHUMG00000159863	ENST00000302632.3:c.705C>T	3.37:g.151055929G>A						MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY12_uc011boa.1_3'UTR|P2RY12_uc003eyx.1_Silent_p.N235N	p.N235N	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		2	921	-			235			Helical; Name=6; (Potential).		D3DNJ5|Q546J7	Silent	SNP	ENST00000302632.3	37	c.705C>T	CCDS3159.1																																																																																				0.388	P2RY12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357796.1			12	55	0	0	0	0.001368	0	12	55				
MED12L	116931	broad.mit.edu	37	3	151102898	151102898	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:151102898C>T	ENST00000474524.1	+	34	4940	c.4902C>T	c.(4900-4902)gtC>gtT	p.V1634V	MED12L_ENST00000273432.4_Silent_p.V1494V|P2RY12_ENST00000302632.3_5'Flank	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1634						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.V1634V(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATGTGATGTCATCACTTGTG	0.368																																							uc003eyp.2		NA																	2	Substitution - coding silent(2)		NS(1)|lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(4900-4902)GTC>GTT		mediator of RNA polymerase II transcription,							130.0	128.0	129.0					3																	151102898		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151102898C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4902C>T	3.37:g.151102898C>T						MED12L_uc011bnz.1_Silent_p.V1494V|P2RY12_uc011boa.1_5'Flank|P2RY12_uc003eyx.1_5'Flank|MED12L_uc003eyy.1_Silent_p.V797V	p.V1634V	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		34	4940	+			1634					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.4902C>T	CCDS33876.1																																																																																				0.368	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		19	158	0	0	0	0.010504	0	19	158				
GPR149	344758	broad.mit.edu	37	3	154055989	154055989	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:154055989C>T	ENST00000389740.2	-	4	1794	c.1695G>A	c.(1693-1695)ggG>ggA	p.G565G		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	565					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G565G(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			ATAGGGTTTTCCCTGTAGGTG	0.453																																							uc003faa.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)	6						c.(1693-1695)GGG>GGA		G protein-coupled receptor 149							142.0	142.0	142.0					3																	154055989		1862	4088	5950	SO:0001819	synonymous_variant	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154055989C>T	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1695G>A	3.37:g.154055989C>T							p.G565G	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	1795	-			565			Cytoplasmic (Potential).			Silent	SNP	ENST00000389740.2	37	c.1695G>A	CCDS43162.1																																																																																				0.453	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		29	181	0	0	0	0.009535	0	29	181				
EIF4A2	1974	broad.mit.edu	37	3	186504993	186504993	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:186504993G>T	ENST00000323963.5	+	8	913	c.849G>T	c.(847-849)agG>agT	p.R283S	SNORA63_ENST00000363450.1_RNA|SNORD2_ENST00000459163.1_RNA|SNORA4_ENST00000584302.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.R284S|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.R188S|SNORA81_ENST00000408493.2_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	283	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.R283S(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TCAATACGAGGCGCAAGGTGG	0.423			T	BCL6	NHL																																		uc003fqs.2		NA		Dom	yes		3	3q27.3	1974	T	"""eukaryotic translation initiation factor 4A, isoform 2"""			L	BCL6		NHL		1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(847-849)AGG>AGT		eukaryotic translation initiation factor 4A2							110.0	108.0	108.0					3																	186504993		2203	4300	6503	SO:0001583	missense	1974				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	g.chr3:186504993G>T	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.849G>T	3.37:g.186504993G>T	ENSP00000326381:p.Arg283Ser					EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.R284S|EIF4A2_uc003fqv.2_Missense_Mutation_p.R188S|EIF4A2_uc003fqw.2_Missense_Mutation_p.R188S|EIF4A2_uc011bsb.1_Missense_Mutation_p.R156S|SNORA63_uc010hyw.1_5'Flank|SNORA4_uc010hyx.1_5'Flank	p.R283S	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)	8	888	+	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		283			Helicase C-terminal.		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	c.849G>T	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983896	0.53827	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.06294	3.32;3.32;3.32	5.12	1.37	0.22104	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.13970	0.0338	M	0.73217	2.22	0.80722	D	1	D;P;B;B	0.61080	0.989;0.686;0.373;0.256	P;P;B;B	0.55508	0.777;0.45;0.19;0.093	T	0.01225	-1.1413	10	0.87932	D	0	-9.765	6.7407	0.23435	0.4542:0.0:0.5458:0.0	.	139;188;284;283	B4DJX6;Q9NZE6;Q14240-2;Q14240	.;.;.;IF4A2_HUMAN	S	283;284;188	ENSP00000326381:R283S;ENSP00000398370:R284S;ENSP00000348925:R188S	ENSP00000326381:R283S	R	+	3	2	EIF4A2	187987687	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.919000	0.40015	0.426000	0.26116	0.563000	0.77884	AGG		0.423	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		39	99	1	0	3.66082e-28	0.005524	6.67346e-28	39	99				
CRIPAK	285464	broad.mit.edu	37	4	1389358	1389358	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:1389358G>T	ENST00000324803.4	+	1	4019	c.1059G>T	c.(1057-1059)ctG>ctT	p.L353L		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	353					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L353L(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGCCCGCCTGCTCACACGTG	0.662																																							uc003gdf.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1057-1059)CTG>CTT		cysteine-rich PAK1 inhibitor							152.0	160.0	158.0					4																	1389358		2203	4295	6498	SO:0001819	synonymous_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389358G>T	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.1059G>T	4.37:g.1389358G>T							p.L353L	NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	4019	+			353					Q8NB03	Silent	SNP	ENST00000324803.4	37	c.1059G>T	CCDS3349.1																																																																																				0.662	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		26	151	1	0	1.39806e-14	0.008361	2.37669e-14	26	151				
SLIT2	9353	broad.mit.edu	37	4	20619120	20619120	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:20619120G>A	ENST00000504154.1	+	36	4447	c.4195G>A	c.(4195-4197)Gag>Aag	p.E1399K	SLIT2_ENST00000503823.1_Missense_Mutation_p.E1391K|SLIT2_ENST00000273739.5_Missense_Mutation_p.E1412K|SLIT2_ENST00000503837.1_Missense_Mutation_p.E1395K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1399					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.E1399K(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						TAAGTGCTTGGAGGGCCATGG	0.537																																							uc003gpr.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(4195-4197)GAG>AAG		slit homolog 2 precursor							105.0	91.0	95.0					4																	20619120		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20619120G>A	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.4195G>A	4.37:g.20619120G>A	ENSP00000422591:p.Glu1399Lys					SLIT2_uc003gps.1_Missense_Mutation_p.E1391K	p.E1399K	NM_004787	NP_004778	O94813	SLIT2_HUMAN			36	4399	+			1399					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.4195G>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429812	0.62844	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9	5.9	5.9	0.94986	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.106738	0.64402	D	0.000004	D	0.88573	0.6473	L	0.49350	1.555	0.46458	D	0.999053	B;B	0.16396	0.017;0.007	B;B	0.19666	0.026;0.01	T	0.82772	-0.0292	10	0.10377	T	0.69	.	14.6463	0.68764	0.0:0.256:0.744:0.0	.	1391;1399	O94813-3;O94813	.;SLIT2_HUMAN	K	1391;1399;1412;1395;1395	ENSP00000427548:E1391K;ENSP00000422591:E1399K;ENSP00000273739:E1412K;ENSP00000422261:E1395K	ENSP00000273739:E1412K	E	+	1	0	SLIT2	20228218	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.938000	0.48987	2.788000	0.95919	0.650000	0.86243	GAG		0.537	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			7	35	0	0	0	0.004482	0	7	35				
PPARGC1A	10891	broad.mit.edu	37	4	23816048	23816048	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:23816048T>A	ENST00000264867.2	-	8	1177	c.1058A>T	c.(1057-1059)gAg>gTg	p.E353V	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	353	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.E353V(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGCATACAACTCGGATTGCTC	0.532																																					Esophageal Squamous(29;694 744 13796 34866 44181)	Esophageal Squamous(29;694 744 13796 34866 44181)	uc003gqs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|kidney(2)|skin(2)	8						c.(1057-1059)GAG>GTG		peroxisome proliferator-activated receptor							129.0	132.0	131.0					4																	23816048		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23816048T>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1058A>T	4.37:g.23816048T>A	ENSP00000264867:p.Glu353Val					PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	p.E353V	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN			8	1178	-		Breast(46;0.0503)	353					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.1058A>T	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174956	0.78564	.	.	ENSG00000109819	ENST00000264867	T	0.57436	0.4	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.76285	0.3966	M	0.85462	2.755	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.80099	-0.1524	10	0.87932	D	0	-12.2623	16.8061	0.85666	0.0:0.0:0.0:1.0	.	353	Q9UBK2	PRGC1_HUMAN	V	353	ENSP00000264867:E353V	ENSP00000264867:E353V	E	-	2	0	PPARGC1A	23425146	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.466000	0.80914	2.367000	0.80283	0.528000	0.53228	GAG		0.532	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		21	139	0	0	0	0.001882	0	21	139				
STIM2	57620	broad.mit.edu	37	4	27019384	27019384	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:27019384G>T	ENST00000467011.1	+	11	1966	c.1541G>T	c.(1540-1542)cGt>cTt	p.R514L	STIM2_ENST00000412829.2_Missense_Mutation_p.R601L|STIM2_ENST00000467087.1_Missense_Mutation_p.R514L|STIM2_ENST00000237364.5_Missense_Mutation_p.R601L|STIM2_ENST00000465503.1_Missense_Mutation_p.R522L|STIM2_ENST00000382009.3_Missense_Mutation_p.R609L	NM_001169117.1	NP_001162588	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	514					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)	p.R601L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AGCCTGTGCCGTTCACGCCGC	0.597																																							uc003gsh.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1825-1827)CGT>CTT		stromal interaction molecule 2							176.0	159.0	165.0					4																	27019384		2203	4300	6503	SO:0001583	missense	57620				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	g.chr4:27019384G>T	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467011.1:c.1541G>T	4.37:g.27019384G>T	ENSP00000419383:p.Arg514Leu					STIM2_uc003gsg.3_Missense_Mutation_p.R601L|STIM2_uc010iex.2_Missense_Mutation_p.R601L|STIM2_uc010iey.2_Missense_Mutation_p.R225L	p.R609L	NM_020860	NP_065911	Q9P246	STIM2_HUMAN			12	2042	+		Breast(46;0.0503)	514			Cytoplasmic (Potential).		A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467011.1	37	c.1826G>T	CCDS54752.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897545	0.91962	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000467011;ENST00000412829;ENST00000465503;ENST00000473519;ENST00000477474	T;T;T;T;T;T;T;T	0.79749	-1.22;-1.26;-1.26;-1.23;-1.26;-1.21;-1.3;-1.29	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.86163	0.5867	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	D;D;D;D	0.80764	0.987;0.987;0.987;0.994	D	0.86239	0.1642	10	0.54805	T	0.06	.	19.7974	0.96491	0.0:0.0:1.0:0.0	.	514;601;609;601	Q9P246;A6H8L7;E9PGD0;F5GXJ4	STIM2_HUMAN;.;.;.	L	514;609;601;514;601;522;222;116	ENSP00000419073:R514L;ENSP00000371439:R609L;ENSP00000237364:R601L;ENSP00000419383:R514L;ENSP00000404812:R601L;ENSP00000417569:R522L;ENSP00000420113:R222L;ENSP00000419536:R116L	ENSP00000237364:R601L	R	+	2	0	STIM2	26628482	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	7.877000	0.87225	2.673000	0.90976	0.650000	0.86243	CGT		0.597	STIM2-003	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000356861.1	NM_020860		26	147	1	0	4.59853e-10	0.005443	7.03248e-10	26	147				
TLR10	81793	broad.mit.edu	37	4	38777210	38777210	+	Start_Codon_SNP	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:38777210A>G	ENST00000308973.4	-	4	607	c.2T>C	c.(1-3)aTg>aCg	p.M1T	TLR10_ENST00000508334.1_Start_Codon_SNP_p.M1T|TLR10_ENST00000361424.2_Start_Codon_SNP_p.M1T|TLR10_ENST00000506111.1_Start_Codon_SNP_p.M1T|TLR10_ENST00000507953.1_5'Flank	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	1					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.M1T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GATGAGTCTCATTGTATTTCC	0.343																																							uc003gti.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(1-3)ATG>ACG		toll-like receptor 10 precursor							53.0	57.0	55.0					4																	38777210		2203	4299	6502	SO:0001582	initiator_codon_variant	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38777210A>G	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.2T>C	4.37:g.38777210A>G	ENSP00000308925:p.Met1Thr					TLR10_uc003gtj.2_Missense_Mutation_p.M1T|TLR10_uc003gtk.2_Missense_Mutation_p.M1T	p.M1T	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN			2	381	-			1					A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	ENST00000308973.4	37	c.2T>C	CCDS3445.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.692617	0.30052	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	5.36	4.19	0.49359	.	0.000000	0.49916	D	0.000123	T	0.09774	0.0240	.	.	.	0.34292	D	0.683332	P	0.38922	0.651	B	0.32864	0.154	T	0.15665	-1.0429	9	0.87932	D	0	.	6.526	0.22301	0.7852:0.0:0.0755:0.1394	.	1	Q9BXR5	TLR10_HUMAN	T	1	ENSP00000308925:M1T;ENSP00000421483:M1T;ENSP00000354459:M1T;ENSP00000424923:M1T	ENSP00000308925:M1T	M	-	2	0	TLR10	38453605	0.985000	0.35326	0.466000	0.27168	0.636000	0.38137	2.667000	0.46808	2.025000	0.59659	0.533000	0.62120	ATG		0.343	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1		Missense_Mutation	10	33	0	0	0	0.006214	0	10	33				
FRYL	285527	broad.mit.edu	37	4	48512111	48512111	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:48512111C>T	ENST00000503238.1	-	56	8358	c.8359G>A	c.(8359-8361)Gat>Aat	p.D2787N	FRYL_ENST00000264319.7_Missense_Mutation_p.D183N|FRYL_ENST00000507873.2_Missense_Mutation_p.D183N|FRYL_ENST00000358350.4_Missense_Mutation_p.D2787N|FRYL_ENST00000537810.1_Missense_Mutation_p.D2787N			O94915	FRYL_HUMAN	FRY-like	2787					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.D2787N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTGTATGTATCCAGGTGTTCT	0.438																																							uc003gyh.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(8359-8361)GAT>AAT		furry-like							80.0	80.0	80.0					4																	48512111		1863	4113	5976	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48512111C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8359G>A	4.37:g.48512111C>T	ENSP00000426064:p.Asp2787Asn					FRYL_uc003gyf.1_Missense_Mutation_p.D183N|FRYL_uc003gyg.1_Missense_Mutation_p.D1483N	p.D2787N	NM_015030	NP_055845	O94915	FRYL_HUMAN			59	8964	-			2787					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.8359G>A	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740223	0.89573	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.30182	1.55;1.55;1.54	5.93	5.93	0.95920	.	0.000000	0.64402	U	0.000001	T	0.61800	0.2376	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.91635	0.928;0.967;0.999	T	0.63800	-0.6555	10	0.87932	D	0	.	20.3397	0.98756	0.0:1.0:0.0:0.0	.	2787;2787;183	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	N	2787;2787;2787;183;183	ENSP00000426064:D2787N;ENSP00000351113:D2787N;ENSP00000441114:D2787N	ENSP00000264319:D183N	D	-	1	0	FRYL	48206868	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	7.407000	0.80029	2.803000	0.96430	0.585000	0.79938	GAT		0.438	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			7	49	0	0	0	0.00308	0	7	49				
LPHN3	23284	broad.mit.edu	37	4	62862036	62862036	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:62862036C>T	ENST00000514591.1	+	19	3389	c.3060C>T	c.(3058-3060)ttC>ttT	p.F1020F	LPHN3_ENST00000508946.1_Silent_p.F1020F|LPHN3_ENST00000514996.1_Silent_p.F1020F|LPHN3_ENST00000504896.1_Silent_p.F1020F|LPHN3_ENST00000508693.1_Silent_p.F1088F|LPHN3_ENST00000506720.1_Silent_p.F1088F|LPHN3_ENST00000509896.1_Silent_p.F1088F|LPHN3_ENST00000507164.1_Silent_p.F1088F|LPHN3_ENST00000545650.1_Silent_p.F1020F|LPHN3_ENST00000511324.1_Silent_p.F1088F|LPHN3_ENST00000506746.1_Silent_p.F1088F|LPHN3_ENST00000514157.1_Silent_p.F1020F|LPHN3_ENST00000506700.1_Silent_p.F1020F|LPHN3_ENST00000507625.1_Silent_p.F1088F|LPHN3_ENST00000512091.2_Silent_p.F1020F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1007					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.F1020F(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACACCTACTTCATTTGGAGTT	0.393																																							uc010ihh.2		NA																	3	Substitution - coding silent(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(3058-3060)TTC>TTT		latrophilin 3 precursor							202.0	195.0	197.0					4																	62862036		1893	4125	6018	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62862036C>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3060C>T	4.37:g.62862036C>T						LPHN3_uc003hcq.3_Silent_p.F1020F|LPHN3_uc003hct.2_Silent_p.F413F	p.F1020F	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			17	3233	+			1007			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.3060C>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	5.727	0.318648	0.10845	.	.	ENSG00000150471	ENST00000502815	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	T	0.63896	0.2550	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62388	-0.6865	4	.	.	.	.	11.9321	0.52853	0.0:0.9198:0.0:0.0802	.	.	.	.	Y	478	.	.	H	+	1	0	LPHN3	62544631	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.303000	0.43646	2.358000	0.79984	0.563000	0.77884	CAT		0.393	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			16	129	0	0	0	0.00499	0	16	129				
LPHN3	23284	broad.mit.edu	37	4	62894601	62894601	+	Splice_Site	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:62894601T>A	ENST00000514591.1	+	21	3547		c.e21+2		LPHN3_ENST00000508946.1_Splice_Site|LPHN3_ENST00000514996.1_Intron|LPHN3_ENST00000504896.1_Splice_Site|LPHN3_ENST00000508693.1_Splice_Site|LPHN3_ENST00000506720.1_Splice_Site|LPHN3_ENST00000509896.1_Splice_Site|LPHN3_ENST00000507164.1_Intron|LPHN3_ENST00000545650.1_Splice_Site|LPHN3_ENST00000511324.1_Intron|LPHN3_ENST00000506746.1_Intron|LPHN3_ENST00000514157.1_Intron|LPHN3_ENST00000506700.1_Intron|LPHN3_ENST00000507625.1_Intron|LPHN3_ENST00000512091.2_Splice_Site			Q9HAR2	LPHN3_HUMAN	latrophilin 3						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.?(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTTCATCAAGTAAGAATGACC	0.358																																							uc010ihh.2		NA																	3	Unknown(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.e19+2		latrophilin 3 precursor							134.0	124.0	127.0					4																	62894601		1895	4110	6005	SO:0001630	splice_region_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62894601T>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3218+2T>A	4.37:g.62894601T>A						LPHN3_uc003hcq.3_Splice_Site_p.K1073_splice|LPHN3_uc003hct.2_Intron	p.K1073_splice	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			19	3391	+								E9PE04|O94867|Q9NWK5	Splice_Site	SNP	ENST00000514591.1	37	c.3218_splice	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198052	0.79015	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000545650;ENST00000280009;ENST00000508693;ENST00000504896;ENST00000508946;ENST00000506720	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LPHN3	62577196	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.728000	0.74769	2.323000	0.78572	0.529000	0.55759	.		0.358	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		Intron	3	17	0	0	0	0.004672	0	3	17				
UGT2A3	79799	broad.mit.edu	37	4	69795752	69795752	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:69795752G>T	ENST00000251566.4	-	6	1393	c.1363C>A	c.(1363-1365)Cta>Ata	p.L455I	UGT2A3_ENST00000420231.2_Missense_Mutation_p.L166I	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	455					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.L455I(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTCGATCTAGGGGCTTTACA	0.453																																							uc003hef.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1363-1365)CTA>ATA		UDP glucuronosyltransferase 2 family,							96.0	100.0	98.0					4																	69795752		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69795752G>T		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1363C>A	4.37:g.69795752G>T	ENSP00000251566:p.Leu455Ile					UGT2A3_uc010ihp.1_RNA	p.L455I	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			6	1394	-			455			Extracellular (Potential).		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1363C>A	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	10.72	1.429962	0.25726	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.72394	-0.65;-0.65	1.95	1.07	0.20283	.	0.180732	0.37261	N	0.002179	T	0.82217	0.4989	M	0.88775	2.98	0.25935	N	0.982946	D	0.76494	0.999	D	0.74023	0.982	T	0.72043	-0.4409	10	0.87932	D	0	.	6.3252	0.21239	0.1727:0.0:0.8273:0.0	.	455	Q6UWM9	UD2A3_HUMAN	I	455;166	ENSP00000251566:L455I;ENSP00000440115:L166I	ENSP00000251566:L455I	L	-	1	2	UGT2A3	69830341	1.000000	0.71417	0.847000	0.33407	0.147000	0.21601	2.226000	0.42963	0.166000	0.19597	0.491000	0.48974	CTA		0.453	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		16	94	1	0	2.48551e-13	0.00499	4.16721e-13	16	94				
UGT2A3	79799	broad.mit.edu	37	4	69817245	69817245	+	Silent	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:69817245A>G	ENST00000251566.4	-	1	264	c.234T>C	c.(232-234)caT>caC	p.H78H	UGT2A3_ENST00000420231.2_5'Flank	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	78					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.H78H(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCTGTGGCATATGGACCACCT	0.403																																							uc003hef.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(232-234)CAT>CAC		UDP glucuronosyltransferase 2 family,							65.0	63.0	64.0					4																	69817245		2203	4299	6502	SO:0001819	synonymous_variant	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69817245A>G		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.234T>C	4.37:g.69817245A>G						UGT2A3_uc010ihp.1_RNA	p.H78H	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			1	265	-			78			Extracellular (Potential).		Q9H6S4	Silent	SNP	ENST00000251566.4	37	c.234T>C	CCDS3525.1																																																																																				0.403	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		10	76	0	0	0	0.006214	0	10	76				
UGT2B28	54490	broad.mit.edu	37	4	70152549	70152549	+	Missense_Mutation	SNP	C	C	A	rs144043239		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:70152549C>A	ENST00000335568.5	+	3	952	c.950C>A	c.(949-951)aCa>aAa	p.T317K	UGT2B28_ENST00000511240.1_Missense_Mutation_p.T317K	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	317					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.T317K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AGTAACATGACAGCAGAAAGG	0.418																																							uc003hej.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(949-951)ACA>AAA		UDP glucuronosyltransferase 2 family,	Flunitrazepam(DB01544)						152.0	165.0	161.0					4																	70152549		2047	4246	6293	SO:0001583	missense	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70152549C>A	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.950C>A	4.37:g.70152549C>A	ENSP00000334276:p.Thr317Lys					UGT2B28_uc010ihr.2_Missense_Mutation_p.T317K	p.T317K	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN			3	952	+			317					B5BUM0|Q9BY62|Q9BY63	Missense_Mutation	SNP	ENST00000335568.5	37	c.950C>A	CCDS3528.1	.	.	.	.	.	.	.	.	.	.	-	1.030	-0.682273	0.03353	.	.	ENSG00000135226	ENST00000335568;ENST00000511240	T;T	0.61510	0.1;0.1	1.85	-0.372	0.12520	.	0.230015	0.35124	N	0.003424	T	0.50103	0.1596	M	0.66297	2.02	0.09310	N	1	B;B	0.22541	0.004;0.071	B;B	0.22386	0.012;0.039	T	0.46693	-0.9173	10	0.59425	D	0.04	.	7.9526	0.30023	0.4163:0.5836:0.0:0.0	.	317;317	Q9BY64-2;Q9BY64	.;UDB28_HUMAN	K	317	ENSP00000334276:T317K;ENSP00000427399:T317K	ENSP00000334276:T317K	T	+	2	0	UGT2B28	70187138	0.001000	0.12720	0.011000	0.14972	0.001000	0.01503	1.135000	0.31454	-0.428000	0.07339	-1.296000	0.01341	ACA		0.418	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		12	101	1	0	9.31168e-06	0.001855	1.23089e-05	12	101				
PROL1	58503	broad.mit.edu	37	4	71275358	71275358	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:71275358C>A	ENST00000399575.2	+	3	487	c.313C>A	c.(313-315)Cta>Ata	p.L105I	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	105	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)	p.Y102fs*3(1)|p.L105I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TTATCCAAACCTACATTTCCC	0.388																																							uc003hfi.2		NA																	2	Substitution - Missense(1)|Deletion - Frameshift(1)		lung(1)|prostate(1)	large_intestine(1)	1						c.(313-315)CTA>ATA		proline rich, lacrimal 1							211.0	200.0	204.0					4																	71275358		1858	4100	5958	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275358C>A	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.313C>A	4.37:g.71275358C>A	ENSP00000382485:p.Leu105Ile						p.L105I	NM_021225	NP_067048	Q99935	PROL1_HUMAN			3	487	+		all_hematologic(202;0.196)	105			Pro-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.313C>A	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	C	8.378	0.836900	0.16891	.	.	ENSG00000171199	ENST00000399575	.	.	.	1.77	1.77	0.24775	.	1.295740	0.05968	N	0.641743	T	0.20659	0.0497	L	0.36672	1.1	0.09310	N	1	P	0.46020	0.871	B	0.31812	0.136	T	0.29518	-1.0009	9	0.87932	D	0	.	7.0055	0.24833	0.0:1.0:0.0:0.0	.	105	Q99935	PROL1_HUMAN	I	105	.	ENSP00000382485:L105I	L	+	1	2	PROL1	71309947	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.699000	0.25586	1.301000	0.44836	0.591000	0.81541	CTA		0.388	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		35	206	1	0	4.10981e-09	0.005524	6.10625e-09	35	206				
ANKRD17	26057	broad.mit.edu	37	4	73984548	73984548	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:73984548G>A	ENST00000358602.4	-	22	4161	c.4045C>T	c.(4045-4047)Cgt>Tgt	p.R1349C	ANKRD17_ENST00000509867.2_Missense_Mutation_p.R1236C|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.R1098C	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1349					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R1349C(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCTTGTTACGTACATCAATA	0.428																																							uc003hgp.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10						c.(4045-4047)CGT>TGT		ankyrin repeat domain protein 17 isoform a							172.0	158.0	163.0					4																	73984548		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73984548G>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4045C>T	4.37:g.73984548G>A	ENSP00000351416:p.Arg1349Cys					ANKRD17_uc003hgo.2_Missense_Mutation_p.R1236C|ANKRD17_uc003hgq.2_Missense_Mutation_p.R1098C|ANKRD17_uc003hgr.2_Missense_Mutation_p.R1348C|ANKRD17_uc011cbd.1_Missense_Mutation_p.R914C	p.R1349C	NM_032217	NP_115593	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		22	4162	-	Breast(15;0.000295)		1349					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.4045C>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446395	0.84101	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.16324	2.35;2.35;2.35	4.88	4.88	0.63580	Ankyrin repeat-containing domain (4);	0.096722	0.47455	D	0.000232	T	0.41488	0.1161	M	0.61703	1.905	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.992	D;D;D;D;P	0.87578	0.953;0.996;0.996;0.998;0.761	T	0.33777	-0.9855	10	0.72032	D	0.01	.	18.031	0.89283	0.0:0.0:1.0:0.0	.	870;1348;1098;1349;1236	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	C	1349;1098;1236	ENSP00000351416:R1349C;ENSP00000332265:R1098C;ENSP00000427151:R1236C	ENSP00000332265:R1098C	R	-	1	0	ANKRD17	74203412	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.510000	0.98004	2.266000	0.75297	0.555000	0.69702	CGT		0.428	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		17	114	0	0	0	0.007413	0	17	114				
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77231140	77231140	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:77231140G>T	ENST00000237642.6	+	2	1808	c.1064G>T	c.(1063-1065)tGg>tTg	p.W355L	FAM47E-STBD1_ENST00000539752.1_Missense_Mutation_p.W206L|FAM47E_ENST00000515604.1_3'UTR	NM_003943.4	NP_003934.1			FAM47E-STBD1 readthrough									p.W355L(1)									CACGCATGGTGGGGGATTCAC	0.448																																							uc003hka.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1063-1065)TGG>TTG		starch binding domain 1							101.0	108.0	105.0					4																	77231140		2202	4300	6502	SO:0001583	missense	8987				carbohydrate metabolic process|muscle contraction	integral to plasma membrane|membrane fraction	carbohydrate binding|catalytic activity|protein binding	g.chr4:77231140G>T		CCDS58908.1	4q21.1	2013-04-23			ENSG00000118804	ENSG00000118804			44667	other	readthrough							Standard	NM_001242939		Approved				OTTHUMG00000160966	ENST00000237642.6:c.1064G>T	4.37:g.77231140G>T	ENSP00000237642:p.Trp355Leu					STBD1_uc003hjy.2_3'UTR|STBD1_uc011cbv.1_3'UTR|STBD1_uc011cbw.1_Missense_Mutation_p.W206L	p.W355L	NM_003943	NP_003934	O95210	STBD1_HUMAN	Lung(101;0.196)		2	1310	+			355			CBM20.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000237642.6	37	c.1064G>T	CCDS3578.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.322962	0.60634	.	.	ENSG00000118804	ENST00000539752;ENST00000237642	D;D	0.87334	-2.24;-2.24	5.37	5.37	0.77165	Carbohydrate-binding-like fold (1);Glycoside hydrolase, carbohydrate-binding (1);	0.000000	0.64402	D	0.000009	D	0.93494	0.7924	M	0.76574	2.34	0.58432	D	0.999996	D	0.89917	1.0	D	0.85130	0.997	D	0.93711	0.7024	10	0.87932	D	0	-7.9252	19.3052	0.94158	0.0:0.0:1.0:0.0	.	355	O95210	STBD1_HUMAN	L	206;355	ENSP00000442265:W206L;ENSP00000237642:W355L	ENSP00000237642:W355L	W	+	2	0	STBD1	77450164	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	8.270000	0.89880	2.793000	0.96121	0.591000	0.81541	TGG		0.448	FAM47E-STBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252415.2			17	81	1	0	1.33834e-09	0.007413	2.02552e-09	17	81				
HELQ	113510	broad.mit.edu	37	4	84374799	84374799	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:84374799C>A	ENST00000295488.3	-	2	759	c.597G>T	c.(595-597)caG>caT	p.Q199H	MRPS18C_ENST00000507019.1_5'Flank|MRPS18C_ENST00000295491.4_5'Flank|MRPS18C_ENST00000507349.1_5'Flank|HELQ_ENST00000440639.2_5'Flank|HELQ_ENST00000510985.1_Missense_Mutation_p.Q199H	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	199					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.Q199H(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGTATATAGCCTGTGAGGAAG	0.388								Other identified genes with known or suspected DNA repair function																															uc003hom.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(595-597)CAG>CAT	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA helicase HEL308							122.0	122.0	122.0					4																	84374799		2203	4300	6503	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84374799C>A	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.597G>T	4.37:g.84374799C>A	ENSP00000295488:p.Gln199His					HELQ_uc010ikb.2_Missense_Mutation_p.Q199H|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA|HELQ_uc003hon.1_Missense_Mutation_p.Q93H|HELQ_uc003hoo.1_Missense_Mutation_p.Q162H|HELQ_uc003hop.1_Missense_Mutation_p.Q93H|HELQ_uc003hoq.1_Missense_Mutation_p.Q199H|MRPS18C_uc003hor.3_5'Flank|MRPS18C_uc011ccu.1_5'Flank	p.Q199H	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN			2	776	-			199					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.597G>T	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.745127	0.30955	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.76186	-0.31;-1.0	5.87	-0.665	0.11403	.	0.332760	0.28748	N	0.014271	T	0.79673	0.4486	M	0.63843	1.955	0.19575	N	0.999967	B;D;P;D	0.89917	0.105;1.0;0.796;1.0	B;D;B;D	0.91635	0.042;0.999;0.372;0.97	T	0.70019	-0.4987	10	0.66056	D	0.02	-42.7614	6.7644	0.23558	0.1056:0.4819:0.0:0.4125	.	199;199;162;199	E3W980;E3W982;Q8TDG4-2;Q8TDG4	.;.;.;HELQ_HUMAN	H	199	ENSP00000295488:Q199H;ENSP00000424539:Q199H	ENSP00000295488:Q199H	Q	-	3	2	HELQ	84593823	0.000000	0.05858	0.490000	0.27465	0.001000	0.01503	-0.484000	0.06528	-0.508000	0.06540	-0.895000	0.02911	CAG		0.388	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		41	130	1	0	7.53189e-24	0.007835	1.35611e-23	41	130				
ABCG2	9429	broad.mit.edu	37	4	89018658	89018658	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:89018658T>A	ENST00000237612.3	-	13	2139	c.1594A>T	c.(1594-1596)Agt>Tgt	p.S532C	ABCG2_ENST00000515655.1_Missense_Mutation_p.S532C	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	532	ABC transmembrane type-2.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.S532C(2)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GAAACCACACTCTGACCTGCT	0.428																																							uc003hrg.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(1594-1596)AGT>TGT		ATP-binding cassette, sub-family G, member 2	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)						141.0	120.0	127.0					4																	89018658		2203	4300	6503	SO:0001583	missense	9429				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	g.chr4:89018658T>A	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.1594A>T	4.37:g.89018658T>A	ENSP00000237612:p.Ser532Cys					ABCG2_uc003hrh.2_Missense_Mutation_p.S532C|ABCG2_uc003hrf.2_Missense_Mutation_p.S400C	p.S532C	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	13	2087	-		Hepatocellular(203;0.114)	532			ABC transmembrane type-2.|Cytoplasmic (Potential).		A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	ENST00000237612.3	37	c.1594A>T	CCDS3628.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518305	0.64634	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	T;T	0.72725	-0.68;-0.68	5.5	5.5	0.81552	ABC-2 type transporter (1);	0.481797	0.26832	N	0.022275	D	0.83128	0.5187	M	0.85777	2.775	0.34125	D	0.664602	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.67382	0.951;0.95;0.95	D	0.89104	0.3491	10	0.62326	D	0.03	-8.9273	9.7701	0.40585	0.0:0.0778:0.0:0.9222	.	532;532;532	Q9UNQ0-2;Q9UNQ0;Q4W5I3	.;ABCG2_HUMAN;.	C	532	ENSP00000426917:S532C;ENSP00000237612:S532C	ENSP00000237612:S532C	S	-	1	0	ABCG2	89237682	1.000000	0.71417	0.687000	0.30102	0.643000	0.38383	2.280000	0.43443	2.089000	0.63090	0.455000	0.32223	AGT		0.428	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253051.1	NM_004827		15	48	0	0	0	0.00499	0	15	48				
ADH6	130	broad.mit.edu	37	4	100131611	100131611	+	Missense_Mutation	SNP	G	G	T	rs148378840	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:100131611G>T	ENST00000237653.7	-	4	695	c.311C>A	c.(310-312)tCt>tAt	p.S104Y	ADH6_ENST00000394897.1_Missense_Mutation_p.S104Y|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000407820.2_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.S104Y|ADH6_ENST00000504257.1_5'Flank	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	104					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)	p.S104Y(2)		breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	ATTCAGGCAAGAGGTACATTC	0.299																																							uc003hup.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(310-312)TCT>TAT		class V alcohol dehydrogenase isoform 2	Abacavir(DB01048)|NADH(DB00157)						70.0	75.0	73.0					4																	100131611		2203	4299	6502	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100131611G>T	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.311C>A	4.37:g.100131611G>T	ENSP00000237653:p.Ser104Tyr					uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.S104Y|ADH6_uc011cef.1_5'UTR|ADH6_uc010ile.2_Missense_Mutation_p.S104Y	p.S104Y	NM_000672	NP_000663	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	4	405	-			104					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.311C>A	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238580	0.39598	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000237653	T;T;T	0.04809	3.55;3.55;3.55	4.37	1.44	0.22558	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.395020	0.30840	N	0.008771	T	0.04634	0.0126	N	0.16790	0.44	0.09310	N	0.999996	P;B;B	0.36065	0.535;0.137;0.043	P;B;B	0.46208	0.507;0.075;0.018	T	0.31475	-0.9942	10	0.54805	T	0.06	-2.7121	4.9022	0.13781	0.2822:0.0:0.5684:0.1493	.	104;104;104	E9PBI1;P28332;P28332-2	.;ADH6_HUMAN;.	Y	104	ENSP00000378358:S104Y;ENSP00000378359:S104Y;ENSP00000237653:S104Y	ENSP00000237653:S104Y	S	-	2	0	ADH6	100350634	0.000000	0.05858	0.004000	0.12327	0.890000	0.51754	0.266000	0.18534	0.398000	0.25338	0.467000	0.42956	TCT		0.299	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		14	110	1	0	2.23348e-06	0.004007	3.02909e-06	14	110				
ETNPPL	64850	broad.mit.edu	37	4	109664984	109664984	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:109664984G>T	ENST00000296486.3	-	12	1486	c.1332C>A	c.(1330-1332)acC>acA	p.T444T	ETNPPL_ENST00000411864.2_Silent_p.T438T|ETNPPL_ENST00000510706.1_Silent_p.T404T|ETNPPL_ENST00000512646.1_Silent_p.T386T	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	444						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)	p.T444T(1)									TCACACTTTCGGTTTTGGTTC	0.328																																							uc003hzc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1330-1332)ACC>ACA		alanine-glyoxylate aminotransferase 2-like 1							96.0	98.0	97.0					4																	109664984		2203	4300	6503	SO:0001819	synonymous_variant	64850				cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr4:109664984G>T	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1332C>A	4.37:g.109664984G>T						AGXT2L1_uc010imc.2_Silent_p.T438T|AGXT2L1_uc011cfm.1_Silent_p.T404T|AGXT2L1_uc011cfn.1_Silent_p.T371T|AGXT2L1_uc011cfo.1_Silent_p.T386T	p.T444T	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000281)	12	1513	-			444					B7Z1Y0|E9PBY0|Q9H174	Silent	SNP	ENST00000296486.3	37	c.1332C>A	CCDS3682.1																																																																																				0.328	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		18	73	1	0	3.62473e-10	0.001882	5.59004e-10	18	73				
NEUROG2	63973	broad.mit.edu	37	4	113436287	113436287	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:113436287C>A	ENST00000313341.3	-	2	671	c.345G>T	c.(343-345)ctG>ctT	p.L115L	RP11-402J6.1_ENST00000506057.1_RNA|RP11-402J6.1_ENST00000504009.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	115	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)	p.L115L(1)		central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		TGTTGGCCTTCAGTCTACGGG	0.667																																							uc003ias.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(343-345)CTG>CTT		neurogenin 2							53.0	49.0	50.0					4																	113436287		2203	4300	6503	SO:0001819	synonymous_variant	63973				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding	g.chr4:113436287C>A	AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.345G>T	4.37:g.113436287C>A							p.L115L	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00168)	2	672	-		Ovarian(17;0.156)	115			Helix-loop-helix motif.		Q8N416	Silent	SNP	ENST00000313341.3	37	c.345G>T	CCDS3698.1																																																																																				0.667	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256414.1	NM_024019		13	26	1	0	7.03913e-09	0.001368	1.03118e-08	13	26				
ANK2	287	broad.mit.edu	37	4	114275674	114275674	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:114275674G>C	ENST00000357077.4	+	38	5953	c.5900G>C	c.(5899-5901)gGc>gCc	p.G1967A	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G1934A|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1967	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.G1967A(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCACCTTCTGGCAAAACAGAA	0.498																																							uc003ibe.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(5899-5901)GGC>GCC		ankyrin 2 isoform 1							88.0	93.0	92.0					4																	114275674		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114275674G>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5900G>C	4.37:g.114275674G>C	ENSP00000349588:p.Gly1967Ala					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.G1982A	p.G1967A	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	6000	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1934			Repeat-rich region.|Repeat A.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.5900G>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	6.025	0.372918	0.11409	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.65364	-0.13;-0.15	5.87	4.05	0.47172	.	0.215428	0.32190	N	0.006441	T	0.34337	0.0894	N	0.08118	0	0.23991	N	0.996244	B;B	0.21606	0.058;0.021	B;B	0.16722	0.011;0.016	T	0.07790	-1.0754	9	.	.	.	.	5.8995	0.18957	0.0771:0.1358:0.6471:0.14	.	1934;1967	Q01484;Q01484-4	ANK2_HUMAN;.	A	1967;1934	ENSP00000349588:G1967A;ENSP00000264366:G1934A	.	G	+	2	0	ANK2	114495123	0.962000	0.33011	0.998000	0.56505	0.808000	0.45660	1.650000	0.37292	2.941000	0.99782	0.655000	0.94253	GGC		0.498	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		19	101	0	0	0	0.006122	0	19	101				
TMEM155	132332	broad.mit.edu	37	4	122682991	122682991	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:122682991G>T	ENST00000337677.5	-	4	606	c.48C>A	c.(46-48)tcC>tcA	p.S16S	TMEM155_ENST00000394394.1_Silent_p.S16S|AC079341.1_ENST00000424958.1_5'Flank|TMEM155_ENST00000394396.1_Silent_p.S16S	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	16						extracellular region (GO:0005576)		p.S16S(1)		breast(1)|lung(5)	6						TTACAAGTTTGGAAATTAGTG	0.333																																							uc003idx.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(46-48)TCC>TCA		transmembrane protein 155 precursor							87.0	82.0	84.0					4																	122682991		2203	4300	6503	SO:0001819	synonymous_variant	132332					extracellular region		g.chr4:122682991G>T	AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.48C>A	4.37:g.122682991G>T						TMEM155_uc003idy.1_Silent_p.S16S	p.S16S	NM_152399	NP_689612	Q4W5P6	TM155_HUMAN			4	607	-			16					D3DNW9|Q96NI2	Silent	SNP	ENST00000337677.5	37	c.48C>A	CCDS3721.1																																																																																				0.333	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256637.2	NM_152399		15	34	1	0	9.16793e-09	0.00499	1.33768e-08	15	34				
PCDH18	54510	broad.mit.edu	37	4	138451195	138451195	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:138451195A>T	ENST00000344876.4	-	1	2434	c.2048T>A	c.(2047-2049)gTg>gAg	p.V683E	PCDH18_ENST00000412923.2_Missense_Mutation_p.V683E|PCDH18_ENST00000507846.1_Missense_Mutation_p.V463E|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	683	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V683E(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGTACTTGTCACCGACTCTGC	0.418																																							uc003ihe.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(3)|skin(2)	5						c.(2047-2049)GTG>GAG		protocadherin 18 precursor							165.0	157.0	160.0					4																	138451195		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451195A>T	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2048T>A	4.37:g.138451195A>T	ENSP00000355082:p.Val683Glu					PCDH18_uc003ihf.3_Missense_Mutation_p.V676E|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.V463E|PCDH18_uc011cha.1_Intron	p.V683E	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	2435	-	all_hematologic(180;0.24)		683			Cadherin 6.|Extracellular (Potential).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.2048T>A	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	A	6.767	0.510442	0.12883	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.55930	0.58;0.58;0.49	5.53	5.53	0.82687	Cadherin (2);	0.237291	0.21944	N	0.066829	T	0.38692	0.1050	N	0.14661	0.345	0.23920	N	0.996464	B;B;B	0.30146	0.028;0.27;0.057	B;B;B	0.38458	0.023;0.274;0.023	T	0.34229	-0.9837	10	0.44086	T	0.13	.	8.2004	0.31421	0.8537:0.0:0.1463:0.0	.	463;683;683	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	E	683;683;463	ENSP00000355082:V683E;ENSP00000390688:V683E;ENSP00000425903:V463E	ENSP00000355082:V683E	V	-	2	0	PCDH18	138670645	0.960000	0.32886	0.995000	0.50966	0.858000	0.48976	2.883000	0.48554	2.315000	0.78130	0.533000	0.62120	GTG		0.418	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		61	146	0	0	0	0.00361	0	61	146				
INPP4B	8821	broad.mit.edu	37	4	143081565	143081565	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:143081565C>T	ENST00000513000.1	-	18	1942	c.1509G>A	c.(1507-1509)gtG>gtA	p.V503V	INPP4B_ENST00000508116.1_Silent_p.V503V|INPP4B_ENST00000262992.4_Silent_p.V503V|INPP4B_ENST00000308502.4_Silent_p.V503V|INPP4B_ENST00000509777.1_Silent_p.V503V	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	503					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.V503V(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GCCCTCTCATCACTGGGGGTT	0.498																																							uc003iix.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(1507-1509)GTG>GTA		inositol polyphosphate-4-phosphatase, type II,							221.0	188.0	199.0					4																	143081565		2203	4300	6503	SO:0001819	synonymous_variant	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143081565C>T	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1509G>A	4.37:g.143081565C>T						INPP4B_uc003iiw.3_Silent_p.V503V|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.V318V|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.V374V	p.V503V	NM_003866	NP_003857	O15327	INP4B_HUMAN			18	2104	-	all_hematologic(180;0.158)		503					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	37	c.1509G>A	CCDS3757.1																																																																																				0.498	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		20	121	0	0	0	0.010504	0	20	121				
FBXW7	55294	broad.mit.edu	37	4	153253847	153253847	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:153253847G>A	ENST00000281708.4	-	6	2115	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L	FBXW7_ENST00000603841.1_Silent_p.L296L|FBXW7_ENST00000603548.1_Silent_p.L296L|FBXW7_ENST00000263981.5_Silent_p.L216L|FBXW7_ENST00000296555.5_Silent_p.L178L|FBXW7_ENST00000393956.3_Silent_p.L120L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	296	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.L296L(2)|p.L216L(1)|p.L57L(1)|p.L178L(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTGGGTTCCAGGAATGAAAGC	0.353			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																		uc003ims.2		NA		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		6	Substitution - coding silent(5)|Unknown(1)		lung(5)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(886-888)CTG>TTG		F-box and WD repeat domain containing 7 isoform							59.0	59.0	59.0					4																	153253847		2203	4300	6503	SO:0001819	synonymous_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153253847G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.886C>T	4.37:g.153253847G>A						FBXW7_uc011cii.1_Silent_p.L296L|FBXW7_uc003imt.2_Silent_p.L296L|FBXW7_uc011cih.1_Silent_p.L120L|FBXW7_uc003imq.2_Silent_p.L216L|FBXW7_uc003imr.2_Silent_p.L178L	p.L296L	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			6	1035	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	296			F-box.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	c.886C>T	CCDS3777.1																																																																																				0.353	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			6	57	0	0	0	0.001168	0	6	57				
GRIA2	2891	broad.mit.edu	37	4	158142240	158142240	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:158142240T>A	ENST00000264426.9	+	1	325	c.46T>A	c.(46-48)Tgg>Agg	p.W16R	GRIA2_ENST00000393815.2_Intron|GRIA2_ENST00000296526.7_Missense_Mutation_p.W16R|GRIA2_ENST00000449365.1_5'Flank|GRIA2_ENST00000507898.1_Intron|GRIA2_ENST00000504801.1_Intron	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	16					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.W16R(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TCCTGTTTTATGGGGACTGAT	0.368																																							uc003ipm.3		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(46-48)TGG>AGG		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						283.0	250.0	261.0					4																	158142240		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158142240T>A		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.46T>A	4.37:g.158142240T>A	ENSP00000264426:p.Trp16Arg					GRIA2_uc011cit.1_Intron|GRIA2_uc003ipl.3_Missense_Mutation_p.W16R|GRIA2_uc003ipk.3_Intron|GRIA2_uc010iqh.1_5'Flank	p.W16R	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	1	505	+	all_hematologic(180;0.24)	Renal(120;0.0458)	16					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.46T>A	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.778982	0.49891	.	.	ENSG00000120251	ENST00000512774;ENST00000509417;ENST00000296526;ENST00000264426	T;T	0.11930	2.73;2.73	5.5	5.5	0.81552	.	0.138436	0.51477	D	0.000090	T	0.17195	0.0413	L	0.50333	1.59	0.80722	D	1	P;P	0.42993	0.61;0.797	B;B	0.40410	0.265;0.328	T	0.00989	-1.1489	10	0.72032	D	0.01	.	15.6088	0.76696	0.0:0.0:0.0:1.0	.	16;16	P42262;P42262-2	GRIA2_HUMAN;.	R	16	ENSP00000296526:W16R;ENSP00000264426:W16R	ENSP00000264426:W16R	W	+	1	0	GRIA2	158361690	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.630000	0.74272	2.085000	0.62840	0.397000	0.26171	TGG		0.368	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			25	194	0	0	0	0.005443	0	25	194				
NPY5R	4889	broad.mit.edu	37	4	164271912	164271912	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:164271912G>T	ENST00000515560.1	+	4	2009	c.487G>T	c.(487-489)Gtc>Ttc	p.V163F	NPY5R_ENST00000338566.3_Missense_Mutation_p.V163F|NPY5R_ENST00000506953.1_Missense_Mutation_p.V163F			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	163					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.V163F(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GATAGCTACTGTCTGGACACT	0.378																																					Melanoma(139;1287 1774 9781 19750 25599)	Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(6)|skin(1)	7						c.(487-489)GTC>TTC		neuropeptide Y receptor Y5							208.0	208.0	208.0					4																	164271912		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164271912G>T	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.487G>T	4.37:g.164271912G>T	ENSP00000423917:p.Val163Phe						p.V163F	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	669	+	all_hematologic(180;0.166)	Prostate(90;0.109)	163			Helical; Name=4; (Potential).		Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.487G>T	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274631	0.40194	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.75154	-0.91;-0.91;-0.91	5.02	2.18	0.27775	GPCR, rhodopsin-like superfamily (1);	0.576507	0.14706	U	0.303257	T	0.80110	0.4563	M	0.83223	2.63	0.09310	N	1	P	0.50528	0.936	P	0.55345	0.774	T	0.69518	-0.5124	10	0.72032	D	0.01	.	4.0958	0.09990	0.2701:0.0:0.5495:0.1804	.	163	Q15761	NPY5R_HUMAN	F	163	ENSP00000339377:V163F;ENSP00000423917:V163F;ENSP00000423474:V163F	ENSP00000339377:V163F	V	+	1	0	NPY5R	164491362	0.425000	0.25498	0.716000	0.30569	0.966000	0.64601	1.772000	0.38552	1.237000	0.43756	-0.216000	0.12614	GTC		0.378	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		78	220	1	0	6.16549e-39	0.00361	1.13812e-38	78	220				
TKTL2	84076	broad.mit.edu	37	4	164394505	164394505	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:164394505G>C	ENST00000280605.3	-	1	542	c.382C>G	c.(382-384)Cag>Gag	p.Q128E		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	128						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.Q128E(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCTAATCCCTGACCTAGGGAC	0.527																																							uc003iqp.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)	5						c.(382-384)CAG>GAG		transketolase-like 2							105.0	99.0	101.0					4																	164394505		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394505G>C	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.382C>G	4.37:g.164394505G>C	ENSP00000280605:p.Gln128Glu						p.Q128E	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	543	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	128					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.382C>G	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.319949	0.41096	.	.	ENSG00000151005	ENST00000280605	T	0.51071	0.72	3.69	3.69	0.42338	Transketolase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.75932	0.3917	H	0.98027	4.13	0.80722	D	1	D	0.60160	0.987	P	0.58970	0.849	D	0.85241	0.1038	10	0.72032	D	0.01	-6.0763	13.719	0.62714	0.0:0.0:1.0:0.0	.	128	Q9H0I9	TKTL2_HUMAN	E	128	ENSP00000280605:Q128E	ENSP00000280605:Q128E	Q	-	1	0	TKTL2	164613955	1.000000	0.71417	0.834000	0.33040	0.037000	0.13140	9.112000	0.94314	2.348000	0.79779	0.561000	0.74099	CAG		0.527	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		9	53	0	0	0	0.004482	0	9	53				
MARCH1	55016	broad.mit.edu	37	4	165118545	165118545	+	Intron	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:165118545G>A	ENST00000503008.1	-	2	864				MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000508725.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q107*(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTTTCTAACTGTTTCAGTGGC	0.433																																							uc011cjk.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(319-321)CAG>TAG		acidic nuclear phosphoprotein 32C							149.0	153.0	152.0					4																	165118545		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118545G>A	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85731C>T	4.37:g.165118545G>A						MARCH1_uc003iqs.1_Intron	p.Q107*	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	319	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	107			LRR 3.		D3DP29|Q9NWR0	Nonsense_Mutation	SNP	ENST00000503008.1	37	c.319C>T	CCDS54814.1																																																																																				0.433	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		22	146	0	0	0	0.00278	0	22	146				
TENM3	55714	broad.mit.edu	37	4	183522218	183522218	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:183522218C>A	ENST00000511685.1	+	4	776	c.653C>A	c.(652-654)cCg>cAg	p.P218Q	TENM3_ENST00000406950.2_Missense_Mutation_p.P218Q			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	218	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P218Q(2)									AGTCCGGCCCCGCCGGCTGCT	0.572																																							uc003ivd.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(652-654)CCG>CAG		odz, odd Oz/ten-m homolog 3							72.0	83.0	80.0					4																	183522218		1909	4117	6026	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183522218C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.653C>A	4.37:g.183522218C>A	ENSP00000424226:p.Pro218Gln						p.P218Q	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	3	690	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	218			Cytoplasmic (Potential).|Teneurin N-terminal.		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.653C>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241784	0.79912	.	.	ENSG00000218336	ENST00000511685;ENST00000406950;ENST00000510504	T;T;T	0.51325	0.71;0.71;0.71	5.78	5.78	0.91487	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.67144	0.2862	L	0.54323	1.7	0.58432	D	0.999993	D	0.89917	1.0	D	0.87578	0.998	T	0.66945	-0.5795	9	0.66056	D	0.02	.	20.0015	0.97412	0.0:1.0:0.0:0.0	.	218	Q9P273	TEN3_HUMAN	Q	218;218;76	ENSP00000424226:P218Q;ENSP00000385276:P218Q;ENSP00000426914:P76Q	ENSP00000385276:P218Q	P	+	2	0	ODZ3	183759212	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.484000	0.81180	2.718000	0.92993	0.557000	0.71058	CCG		0.572	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			13	84	1	0	1.5842e-08	0.001855	2.29772e-08	13	84				
FAT1	2195	broad.mit.edu	37	4	187558005	187558005	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:187558005G>A	ENST00000441802.2	-	5	3915	c.3706C>T	c.(3706-3708)Ctt>Ttt	p.L1236F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1236	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1236F(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTTTCATCAAGGATTTTCACA	0.398										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(3706-3708)CTT>TTT		FAT tumor suppressor 1 precursor							207.0	203.0	204.0					4																	187558005		1833	4087	5920	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187558005G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3706C>T	4.37:g.187558005G>A	ENSP00000406229:p.Leu1236Phe	HNSCC(5;0.00058)					p.L1236F	NM_005245	NP_005236	Q14517	FAT1_HUMAN			5	3894	-			1236			Extracellular (Potential).|Cadherin 10.			Missense_Mutation	SNP	ENST00000441802.2	37	c.3706C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776173	0.70107	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.56444	0.46	5.26	5.26	0.73747	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.137236	0.44688	D	0.000428	T	0.75265	0.3826	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76908	-0.2785	10	0.34782	T	0.22	.	6.3076	0.21147	0.2112:0.0:0.7888:0.0	.	1236	Q14517	FAT1_HUMAN	F	1236	ENSP00000406229:L1236F	ENSP00000260147:L1236F	L	-	1	0	FAT1	187794999	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	3.638000	0.54332	2.740000	0.93945	0.561000	0.74099	CTT		0.398	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		33	253	0	0	0	0.002445	0	33	253				
TRIML2	205860	broad.mit.edu	37	4	189026059	189026059	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:189026059A>C	ENST00000512729.1	-	2	441	c.67T>G	c.(67-69)Tcg>Gcg	p.S23A	TRIML2_ENST00000536972.1_Missense_Mutation_p.S73A|TRIML2_ENST00000502707.1_5'Flank|TRIML2_ENST00000326754.3_Missense_Mutation_p.S23A	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	23					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.S23A(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTCTCCCTCGATGTGTTCAAT	0.408																																							uc003izl.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(67-69)TCG>GCG		tripartite motif family-like 2							187.0	175.0	179.0					4																	189026059		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189026059A>C	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.67T>G	4.37:g.189026059A>C	ENSP00000422581:p.Ser23Ala					TRIML2_uc011cle.1_Missense_Mutation_p.S73A|TRIML2_uc011clf.1_Missense_Mutation_p.S73A	p.S23A	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	2	103	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	23			Potential.		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.67T>G	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	A	6.264	0.416812	0.11870	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	T;T;T	0.56611	0.63;0.45;0.51	4.63	-9.04	0.00734	.	0.488588	0.15314	N	0.268881	T	0.20251	0.0487	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.15473	0.013;0.008;0.008	B;B;B	0.10450	0.005;0.004;0.004	T	0.22417	-1.0217	10	0.59425	D	0.04	.	12.3559	0.55176	0.2452:0.1236:0.6312:0.0	.	73;23;23	B7Z6J6;B7ZLC3;Q8N7C3	.;.;TRIMM_HUMAN	A	23;23;73	ENSP00000422581:S23A;ENSP00000317498:S23A;ENSP00000441236:S73A	ENSP00000317498:S23A	S	-	1	0	TRIML2	189263053	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.710000	0.05024	-1.917000	0.01074	-1.167000	0.01749	TCG		0.408	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		10	98	0	0	0	0.008291	0	10	98				
ADCY2	108	broad.mit.edu	37	5	7773210	7773210	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:7773210G>A	ENST00000338316.4	+	18	2469	c.2380G>A	c.(2380-2382)Gag>Aag	p.E794K	ADCY2_ENST00000537121.1_Missense_Mutation_p.E614K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	794					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.E794K(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGTCTTATTTGAGAGGTGAGC	0.507																																							uc003jdz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(2380-2382)GAG>AAG		adenylate cyclase 2							103.0	98.0	100.0					5																	7773210		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7773210G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2380G>A	5.37:g.7773210G>A	ENSP00000342952:p.Glu794Lys					ADCY2_uc011cmo.1_Missense_Mutation_p.E614K	p.E794K	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			18	2447	+			794					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2380G>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	8.908	0.958023	0.18507	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.81415	-1.01;-1.49	5.13	1.78	0.24846	.	1.094880	0.06818	N	0.791745	T	0.72558	0.3475	L	0.44542	1.39	0.24168	N	0.995637	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.55198	-0.8178	10	0.27785	T	0.31	.	7.5657	0.27876	0.1403:0.3184:0.5414:0.0	.	614;794	B7Z2C1;Q08462	.;ADCY2_HUMAN	K	794;627;614	ENSP00000342952:E794K;ENSP00000444803:E614K	ENSP00000342952:E794K	E	+	1	0	ADCY2	7826210	0.005000	0.15991	0.926000	0.36857	0.825000	0.46686	0.056000	0.14256	0.527000	0.28560	0.467000	0.42956	GAG		0.507	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		4	72	0	0	0	0.000602	0	4	72				
FAM173B	134145	broad.mit.edu	37	5	10239183	10239183	+	Missense_Mutation	SNP	C	C	A	rs559270054		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:10239183C>A	ENST00000511437.1	-	2	314	c.302G>T	c.(301-303)cGc>cTc	p.R101L	FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.R101L	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	101						integral component of membrane (GO:0016021)		p.R101L(1)|p.R101H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						ACTCACAATGCGTCCGTCCCC	0.398																																							uc003jeo.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)	kidney(1)|central_nervous_system(1)	2						c.(301-303)CGC>CTC		hypothetical protein LOC134145							112.0	109.0	110.0					5																	10239183		1981	4143	6124	SO:0001583	missense	134145					integral to membrane		g.chr5:10239183C>A		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.302G>T	5.37:g.10239183C>A	ENSP00000422338:p.Arg101Leu					FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Missense_Mutation_p.R101L	p.R101L	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN			2	331	-			101					B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	37	c.302G>T	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.547068	0.65198	.	.	ENSG00000150756	ENST00000511437;ENST00000510047	T;T	0.37584	1.19;1.19	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.68311	0.2987	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76211	-0.3042	10	0.87932	D	0	-24.1078	17.7316	0.88379	0.0:1.0:0.0:0.0	.	101;101	E9PBZ4;Q6P4H8	.;F173B_HUMAN	L	101	ENSP00000422338:R101L;ENSP00000420876:R101L	ENSP00000424210:R101L	R	-	2	0	FAM173B	10292183	1.000000	0.71417	0.098000	0.21074	0.140000	0.21249	6.966000	0.76073	2.430000	0.82344	0.655000	0.94253	CGC		0.398	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		14	97	1	0	1.5739e-10	0.004007	2.46892e-10	14	97				
CTNND2	1501	broad.mit.edu	37	5	11411693	11411693	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:11411693G>T	ENST00000304623.8	-	5	583	c.394C>A	c.(394-396)Cag>Aag	p.Q132K	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q132K|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q41K|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q41K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	132					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.Q132K(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						CCTGATTCCTGTAGTGACCTA	0.383																																							uc003jfa.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(394-396)CAG>AAG		catenin (cadherin-associated protein), delta 2							137.0	128.0	131.0					5																	11411693		2203	4300	6503	SO:0001583	missense	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.chr5:11411693G>T	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.394C>A	5.37:g.11411693G>T	ENSP00000307134:p.Gln132Lys					CTNND2_uc010itt.2_Missense_Mutation_p.Q41K|CTNND2_uc011cmy.1_Missense_Mutation_p.Q41K|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	p.Q132K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			5	539	-			132					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.394C>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128365	0.77549	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551;ENST00000513598;ENST00000508761	T;T;T;T	0.80123	-0.94;-1.0;-0.97;-1.34	5.87	5.87	0.94306	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	D	0.87637	0.6227	M	0.61703	1.905	0.80722	D	1	P;P	0.45715	0.713;0.865	P;P	0.57620	0.678;0.824	D	0.86104	0.1558	10	0.48119	T	0.1	-16.0035	20.2147	0.98293	0.0:0.0:1.0:0.0	.	41;132	B4DRK2;Q9UQB3	.;CTND2_HUMAN	K	132;132;41;41;118;41;118	ENSP00000307134:Q132K;ENSP00000352661:Q132K;ENSP00000426510:Q41K;ENSP00000426887:Q41K	ENSP00000307134:Q132K	Q	-	1	0	CTNND2	11464693	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	9.402000	0.97298	2.785000	0.95823	0.591000	0.81541	CAG		0.383	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		17	114	1	0	2.48551e-13	0.00499	4.16721e-13	17	114				
FBXL7	23194	broad.mit.edu	37	5	15928432	15928432	+	Missense_Mutation	SNP	G	G	T	rs371894909		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:15928432G>T	ENST00000504595.1	+	3	1042	c.561G>T	c.(559-561)atG>atT	p.M187I	FBXL7_ENST00000510662.1_Missense_Mutation_p.M140I|FBXL7_ENST00000329673.7_Missense_Mutation_p.M175I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	187					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.M187I(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGTGTCTCATGCTGGAAACCG	0.632																																							uc003jfn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(559-561)ATG>ATT		F-box and leucine-rich repeat protein 7							31.0	37.0	35.0					5																	15928432		2109	4238	6347	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928432G>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.561G>T	5.37:g.15928432G>T	ENSP00000423630:p.Met187Ile						p.M187I	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			3	1042	+			187			LRR 1.		B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.561G>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617521	0.28801	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.28666	1.6;1.6;1.6	5.36	5.36	0.76844	.	0.089261	0.85682	D	0.000000	T	0.21921	0.0528	N	0.14661	0.345	0.41214	D	0.986461	B	0.12013	0.005	B	0.04013	0.001	T	0.03945	-1.0990	10	0.28530	T	0.3	.	19.0832	0.93190	0.0:0.0:1.0:0.0	.	187	Q9UJT9	FBXL7_HUMAN	I	187;140;175	ENSP00000423630:M187I;ENSP00000425184:M140I;ENSP00000329632:M175I	ENSP00000329632:M175I	M	+	3	0	FBXL7	15981432	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.165000	0.58196	2.520000	0.84964	0.561000	0.74099	ATG		0.632	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		3	19	1	0	0.00909568	0.009096	0.00987956	3	19				
CDH18	1016	broad.mit.edu	37	5	19520818	19520818	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:19520818T>G	ENST00000507958.1	-	12	2450	c.1460A>C	c.(1459-1461)gAa>gCa	p.E487A	CDH18_ENST00000506372.1_Missense_Mutation_p.E487A|CDH18_ENST00000274170.4_Missense_Mutation_p.E487A|CDH18_ENST00000502796.1_Missense_Mutation_p.E487A|CDH18_ENST00000511273.1_Missense_Mutation_p.E487A|CDH18_ENST00000382275.1_Missense_Mutation_p.E487A			Q13634	CAD18_HUMAN	cadherin 18, type 2	487	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)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E487A(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)					CCTGGCAAGTTCGGGTGGATT	0.378																																							uc003jgc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1459-1461)GAA>GCA		cadherin 18, type 2 preproprotein							132.0	132.0	132.0					5																	19520818		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.chr5:19520818T>G	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.1460A>C	5.37:g.19520818T>G	ENSP00000425093:p.Glu487Ala					CDH18_uc003jgd.2_Missense_Mutation_p.E487A|CDH18_uc011cnm.1_Missense_Mutation_p.E487A	p.E487A	NM_004934	NP_004925	Q13634	CAD18_HUMAN			9	1837	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		487			Extracellular (Potential).|Cadherin 5.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1460A>C	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.424489	0.43020	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000511273	T;T;T;T;T;T	0.59638	0.25;0.25;0.25;2.06;2.06;2.06	5.22	4.02	0.46733	Cadherin (3);Cadherin-like (1);	0.159888	0.53938	D	0.000041	T	0.60676	0.2287	M	0.85373	2.75	0.35306	D	0.783425	P;B	0.42203	0.773;0.157	B;B	0.40038	0.317;0.15	T	0.71600	-0.4544	9	.	.	.	.	10.5198	0.44912	0.1453:0.0:0.0:0.8547	.	487;487	B4DHG6;Q13634	.;CAD18_HUMAN	A	487	ENSP00000371710:E487A;ENSP00000425093:E487A;ENSP00000274170:E487A;ENSP00000424931:E487A;ENSP00000422138:E487A;ENSP00000425854:E487A	.	E	-	2	0	CDH18	19556575	1.000000	0.71417	0.951000	0.38953	0.964000	0.63967	6.616000	0.74205	0.891000	0.36235	0.528000	0.53228	GAA		0.378	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		8	104	0	0	0	0.008291	0	8	104				
PRDM9	56979	broad.mit.edu	37	5	23526942	23526942	+	Missense_Mutation	SNP	G	G	T	rs370435354		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:23526942G>T	ENST00000296682.3	+	11	1927	c.1745G>T	c.(1744-1746)tGc>tTc	p.C582F		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	582					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.C582F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCCTATGTCTGCAGGGAGTGT	0.597										HNSCC(3;0.000094)																													uc003jgo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1744-1746)TGC>TTC		PR domain containing 9							53.0	60.0	57.0					5																	23526942		2184	4292	6476	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526942G>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1745G>T	5.37:g.23526942G>T	ENSP00000296682:p.Cys582Phe	HNSCC(3;0.000094)					p.C582F	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	1927	+			582			C2H2-type 4.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1745G>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900464	0.52227	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	D	0.85088	-1.94	2.31	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.289676	0.19509	N	0.112556	D	0.91422	0.7293	M	0.84156	2.68	0.53005	D	0.999963	D	0.89917	1.0	D	0.97110	1.0	D	0.91690	0.5365	10	0.87932	D	0	-9.8447	10.6786	0.45799	0.0:0.0:1.0:0.0	.	582	Q9NQV7	PRDM9_HUMAN	F	582;348	ENSP00000296682:C582F	ENSP00000253473:C348F	C	+	2	0	PRDM9	23562699	1.000000	0.71417	0.996000	0.52242	0.764000	0.43329	5.557000	0.67313	1.575000	0.49775	0.400000	0.26472	TGC		0.597	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		23	54	1	0	3.73988e-18	0.00632	6.55601e-18	23	54				
PDZD2	23037	broad.mit.edu	37	5	32073957	32073957	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:32073957A>T	ENST00000438447.1	+	18	3133	c.2745A>T	c.(2743-2745)aaA>aaT	p.K915N	PDZD2_ENST00000282493.3_Missense_Mutation_p.K915N			O15018	PDZD2_HUMAN	PDZ domain containing 2	915					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.K915N(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGCCTGGAAAACCCAGAGCCA	0.557																																							uc003jhl.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(2743-2745)AAA>AAT		PDZ domain containing 2							76.0	84.0	81.0					5																	32073957		2201	4299	6500	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32073957A>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2745A>T	5.37:g.32073957A>T	ENSP00000402033:p.Lys915Asn					PDZD2_uc003jhm.2_Missense_Mutation_p.K915N|PDZD2_uc011cnx.1_Missense_Mutation_p.K741N	p.K915N	NM_178140	NP_835260	O15018	PDZD2_HUMAN			18	3133	+			915					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.2745A>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	A	18.26	3.584865	0.65992	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.07567	3.18;3.18	5.68	5.68	0.88126	.	0.000000	0.52532	D	0.000063	T	0.17831	0.0428	L	0.29908	0.895	0.38430	D	0.946401	P;D	0.89917	0.956;1.0	P;D	0.83275	0.527;0.996	T	0.02950	-1.1090	10	0.54805	T	0.06	.	12.328	0.55022	1.0:0.0:0.0:0.0	.	741;915	B4E3P2;O15018	.;PDZD2_HUMAN	N	915;717;915	ENSP00000402033:K915N;ENSP00000282493:K915N	ENSP00000282493:K915N	K	+	3	2	PDZD2	32109714	0.911000	0.30947	0.984000	0.44739	0.468000	0.32798	1.737000	0.38197	2.163000	0.67991	0.460000	0.39030	AAA		0.557	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			4	91	0	0	0	0.001168	0	4	91				
RXFP3	51289	broad.mit.edu	37	5	33937275	33937275	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:33937275C>G	ENST00000330120.3	+	1	785	c.430C>G	c.(430-432)Ctt>Gtt	p.L144V		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	144					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.L144V(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGAGAACGCTCTTGACTTCAA	0.562																																							uc003jic.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(430-432)CTT>GTT		relaxin/insulin-like family peptide receptor 3							140.0	125.0	130.0					5																	33937275		2203	4300	6503	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937275C>G	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.430C>G	5.37:g.33937275C>G	ENSP00000328708:p.Leu144Val						p.L144V	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	787	+			144			Extracellular (Potential).		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.430C>G	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458391	0.63401	.	.	ENSG00000182631	ENST00000330120	T	0.28069	1.63	5.72	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.073711	0.56097	D	0.000028	T	0.49949	0.1587	M	0.67397	2.05	0.33637	D	0.606777	D	0.59767	0.986	D	0.67103	0.949	T	0.65364	-0.6186	10	0.62326	D	0.03	-14.3479	10.6995	0.45918	0.0:0.8552:0.0:0.1448	.	144	Q9NSD7	RL3R1_HUMAN	V	144	ENSP00000328708:L144V	ENSP00000328708:L144V	L	+	1	0	RXFP3	33973032	0.994000	0.37717	0.099000	0.21106	0.916000	0.54674	3.156000	0.50708	1.421000	0.47157	0.650000	0.86243	CTT		0.562	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		3	105	0	0	0	0.009096	0	3	105				
RXFP3	51289	broad.mit.edu	37	5	33938220	33938220	+	Missense_Mutation	SNP	C	C	T	rs533555760	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:33938220C>T	ENST00000330120.3	+	1	1730	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	459					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.R459C(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						CAGCGGGGGGCGCTACGACCT	0.736																																							uc003jic.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1375-1377)CGC>TGC		relaxin/insulin-like family peptide receptor 3							13.0	15.0	14.0					5																	33938220		2116	4152	6268	SO:0001583	missense	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33938220C>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.1375C>T	5.37:g.33938220C>T	ENSP00000328708:p.Arg459Cys						p.R459C	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	1732	+			459			Cytoplasmic (Potential).		Q14DA5	Missense_Mutation	SNP	ENST00000330120.3	37	c.1375C>T	CCDS3900.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.349326	0.41599	.	.	ENSG00000182631	ENST00000330120	T	0.72282	-0.64	5.28	4.4	0.53042	.	0.329390	0.21618	N	0.071683	T	0.61837	0.2379	L	0.27053	0.805	0.48975	D	0.999737	D	0.61697	0.99	P	0.46339	0.513	T	0.65429	-0.6170	10	0.87932	D	0	-10.1065	11.212	0.48804	0.1835:0.8165:0.0:0.0	.	459	Q9NSD7	RL3R1_HUMAN	C	459	ENSP00000328708:R459C	ENSP00000328708:R459C	R	+	1	0	RXFP3	33973977	0.923000	0.31300	0.636000	0.29352	0.205000	0.24178	1.753000	0.38359	1.192000	0.43071	0.561000	0.74099	CGC		0.736	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		4	20	0	0	0	0.000602	0	4	20				
FYB	2533	broad.mit.edu	37	5	39134992	39134992	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:39134992T>A	ENST00000351578.6	-	8	1830	c.1640A>T	c.(1639-1641)gAa>gTa	p.E547V	FYB_ENST00000512982.1_Missense_Mutation_p.E547V|FYB_ENST00000540520.1_Missense_Mutation_p.E557V|FYB_ENST00000505428.1_Missense_Mutation_p.E547V|FYB_ENST00000515010.1_Missense_Mutation_p.E547V	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	547	SH3.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)	p.E547V(3)|p.E557V(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CCATTTTCCTTCTGGGTTGTC	0.413																																							uc003jls.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(1639-1641)GAA>GTA		FYN binding protein (FYB-120/130) isoform 2							181.0	170.0	174.0					5																	39134992		1892	4135	6027	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39134992T>A	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1640A>T	5.37:g.39134992T>A	ENSP00000316460:p.Glu547Val					FYB_uc003jlt.2_Missense_Mutation_p.E547V|FYB_uc003jlu.2_Missense_Mutation_p.E547V|FYB_uc011cpl.1_Missense_Mutation_p.E557V	p.E547V	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		7	1707	-	all_lung(31;0.000343)		547			SH3.		A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.1640A>T	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.649629	0.87958	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.10005	2.92;2.92;2.92;2.92;2.92	5.93	5.93	0.95920	Src homology-3 domain (2);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	L	0.56769	1.78	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01121	-1.1445	10	0.87932	D	0	-34.1469	16.3839	0.83495	0.0:0.0:0.0:1.0	.	557;547	B4DLN2;O15117	.;FYB_HUMAN	V	547;547;547;547;557;547	ENSP00000316460:E547V;ENSP00000426346:E547V;ENSP00000425845:E547V;ENSP00000427114:E547V;ENSP00000442840:E557V	ENSP00000316460:E547V	E	-	2	0	FYB	39170749	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.446000	0.73460	2.258000	0.74832	0.533000	0.62120	GAA		0.413	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		25	43	0	0	0	0.004656	0	25	43				
ZNF131	7690	broad.mit.edu	37	5	43174960	43174960	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:43174960G>A	ENST00000399534.1	+	7	1641	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	ZNF131_ENST00000306938.4_Missense_Mutation_p.E499K|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509634.1_Missense_Mutation_p.E499K|ZNF131_ENST00000509156.1_Missense_Mutation_p.E533K|ZNF131_ENST00000505606.2_Missense_Mutation_p.E499K			P52739	ZN131_HUMAN	zinc finger protein 131	533					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E499K(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AATTCAGACTGAAGAAGGTAC	0.478																																							uc011cpw.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1597-1599)GAA>AAA		zinc finger protein 131							63.0	62.0	62.0					5																	43174960		1988	4157	6145	SO:0001583	missense	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43174960G>A	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1597G>A	5.37:g.43174960G>A	ENSP00000382450:p.Glu533Lys					ZNF131_uc003jnj.3_Missense_Mutation_p.E254K|ZNF131_uc003jnk.2_Missense_Mutation_p.E499K|ZNF131_uc003jnn.3_Missense_Mutation_p.E254K|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	p.E533K	NM_003432	NP_003423	P52739	ZN131_HUMAN			7	1633	+			533					B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37	c.1597G>A		.	.	.	.	.	.	.	.	.	.	G	24.3	4.513309	0.85389	.	.	ENSG00000172262	ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	L	0.32530	0.975	0.45295	D	0.998299	D;D	0.64830	0.99;0.994	P;P	0.60789	0.76;0.879	T	0.80728	-0.1253	10	0.66056	D	0.02	-17.1719	20.2956	0.98549	0.0:0.0:1.0:0.0	.	533;499	P52739;P52739-2	ZN131_HUMAN;.	K	533;499;533;499;499	ENSP00000426504:E533K;ENSP00000305804:E499K;ENSP00000382450:E533K;ENSP00000423945:E499K;ENSP00000421246:E499K	ENSP00000305804:E499K	E	+	1	0	ZNF131	43210717	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.038000	0.88943	2.805000	0.96524	0.460000	0.39030	GAA		0.478	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		6	44	0	0	0	0.001168	0	6	44				
ITGA2	3673	broad.mit.edu	37	5	52377468	52377468	+	Missense_Mutation	SNP	G	G	T	rs139705254		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:52377468G>T	ENST00000296585.5	+	26	3229	c.3086G>T	c.(3085-3087)gGa>gTa	p.G1029V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1029					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.G1029V(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CTGAAAATAGGACAAACATCT	0.373																																							uc003joy.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(3085-3087)GGA>GTA		integrin alpha 2 precursor							118.0	110.0	113.0					5																	52377468		2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52377468G>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.3086G>T	5.37:g.52377468G>T	ENSP00000296585:p.Gly1029Val					ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.G953V|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	p.G1029V	NM_002203	NP_002194	P17301	ITA2_HUMAN			26	3229	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	1029			Extracellular (Potential).		Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.3086G>T	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826888	0.71143	.	.	ENSG00000164171	ENST00000296585	T	0.44881	0.91	6.08	5.19	0.71726	Integrin alpha-2 (1);	0.376195	0.28653	N	0.014591	T	0.43897	0.1268	N	0.12182	0.205	0.53005	D	0.999962	D	0.56035	0.974	P	0.62885	0.908	T	0.43310	-0.9399	10	0.33940	T	0.23	.	15.0907	0.72192	0.0:0.1463:0.8536:0.0	.	1029	P17301	ITA2_HUMAN	V	1029	ENSP00000296585:G1029V	ENSP00000296585:G1029V	G	+	2	0	ITGA2	52413225	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	2.984000	0.49353	1.545000	0.49373	0.655000	0.94253	GGA		0.373	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203		8	28	1	0	5.68852e-11	0.004482	8.98123e-11	8	28				
PDE4D	5144	broad.mit.edu	37	5	58271612	58271612	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:58271612G>A	ENST00000340635.6	-	14	2060	c.1885C>T	c.(1885-1887)Cag>Tag	p.Q629*	PDE4D_ENST00000317118.8_Nonsense_Mutation_p.Q338*|PDE4D_ENST00000360047.5_Nonsense_Mutation_p.Q493*|PDE4D_ENST00000546160.1_Nonsense_Mutation_p.Q568*|PDE4D_ENST00000358923.6_Nonsense_Mutation_p.Q327*|PDE4D_ENST00000405755.2_Nonsense_Mutation_p.Q507*|PDE4D_ENST00000507116.1_Nonsense_Mutation_p.Q565*|PDE4D_ENST00000503258.1_Nonsense_Mutation_p.Q499*|PDE4D_ENST00000502484.2_Nonsense_Mutation_p.Q568*	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	629					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.Q493*(2)|p.Q565*(1)|p.Q499*(1)|p.Q507*(1)|p.Q629*(1)|p.Q568*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	CGGTACAGCTGGAGAGGCTTT	0.493																																							uc003jsa.2		NA																	7	Substitution - Nonsense(7)		lung(7)	breast(1)|central_nervous_system(1)	2						c.(1885-1887)CAG>TAG		phosphodiesterase 4D isoform 1	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						89.0	94.0	92.0					5																	58271612		2190	4294	6484	SO:0001587	stop_gained	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58271612G>A		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1885C>T	5.37:g.58271612G>A	ENSP00000345502:p.Gln629*					PDE4D_uc003jrx.2_Nonsense_Mutation_p.Q493*|PDE4D_uc003jry.2_Nonsense_Mutation_p.Q327*|PDE4D_uc003jrz.2_Nonsense_Mutation_p.Q565*|PDE4D_uc003jsb.2_Nonsense_Mutation_p.Q568*|PDE4D_uc003jrt.2_Nonsense_Mutation_p.Q327*|PDE4D_uc003jru.2_Nonsense_Mutation_p.Q405*|PDE4D_uc003jrv.2_Nonsense_Mutation_p.Q499*|PDE4D_uc003jrw.2_Nonsense_Mutation_p.Q507*|PDE4D_uc003jrs.2_Nonsense_Mutation_p.Q338*	p.Q629*	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	14	2057	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	629					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Nonsense_Mutation	SNP	ENST00000340635.6	37	c.1885C>T	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	36	5.799715	0.96960	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	.	.	.	4.3	4.3	0.51218	.	0.120392	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	17.3054	0.87192	0.0:0.0:1.0:0.0	.	.	.	.	X	629;498;493;565;327;338;499;507;568;568;327	.	ENSP00000321739:Q338X	Q	-	1	0	PDE4D	58307369	1.000000	0.71417	0.980000	0.43619	0.978000	0.69477	4.479000	0.60236	2.380000	0.81148	0.655000	0.94253	CAG		0.493	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			8	59	0	0	0	0.004482	0	8	59				
HTR1A	3350	broad.mit.edu	37	5	63256706	63256706	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:63256706C>T	ENST00000323865.3	-	1	1074	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	281					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.V281M(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)	CCTTGCCTCACCGCGCCATTG	0.652																																							uc011cqt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(841-843)GTG>ATG		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)						47.0	44.0	45.0					5																	63256706		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256706C>T	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.841G>A	5.37:g.63256706C>T	ENSP00000316244:p.Val281Met						p.V281M	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	841	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	281			Cytoplasmic (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.841G>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.260775	0.39995	.	.	ENSG00000178394	ENST00000323865	T	0.63417	-0.04	5.17	5.17	0.71159	GPCR, rhodopsin-like superfamily (1);	0.072247	0.56097	D	0.000036	T	0.63224	0.2493	L	0.45051	1.395	0.37430	D	0.913971	P	0.39624	0.681	P	0.49192	0.602	T	0.67341	-0.5695	10	0.46703	T	0.11	.	11.2978	0.49288	0.0:0.9178:0.0:0.0822	.	281	P08908	5HT1A_HUMAN	M	281	ENSP00000316244:V281M	ENSP00000316244:V281M	V	-	1	0	HTR1A	63292462	0.933000	0.31639	0.962000	0.40283	0.504000	0.33889	2.024000	0.41049	2.692000	0.91855	0.655000	0.94253	GTG		0.652	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		11	39	0	0	0	0.000978	0	11	39				
HTR1A	3350	broad.mit.edu	37	5	63256880	63256880	+	Missense_Mutation	SNP	G	G	A	rs555710952		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:63256880G>A	ENST00000323865.3	-	1	900	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	223					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.R223C(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)	ATGCGGAAGCGCGCAGCTCGG	0.567													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16588	0.0		0.0	False		,,,				2504	0.0						uc011cqt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(667-669)CGC>TGC		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)						78.0	86.0	83.0					5																	63256880		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256880G>A	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.667C>T	5.37:g.63256880G>A	ENSP00000316244:p.Arg223Cys						p.R223C	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	667	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	223			Cytoplasmic (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.667C>T	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799082	0.70567	.	.	ENSG00000178394	ENST00000323865	T	0.42900	0.96	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73194	0.3556	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.79174	-0.1912	10	0.87932	D	0	.	18.8287	0.92128	0.0:0.0:1.0:0.0	.	223	P08908	5HT1A_HUMAN	C	223	ENSP00000316244:R223C	ENSP00000316244:R223C	R	-	1	0	HTR1A	63292636	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	1.694000	0.37752	2.692000	0.91855	0.655000	0.94253	CGC		0.567	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		37	86	0	0	0	0.004289	0	37	86				
HTR1A	3350	broad.mit.edu	37	5	63256927	63256927	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:63256927G>A	ENST00000323865.3	-	1	853	c.620C>T	c.(619-621)cCg>cTg	p.P207L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	207					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.P207L(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)	GAGCAGCAGCGGGATGTAGAA	0.587																																							uc011cqt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(619-621)CCG>CTG		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)						108.0	121.0	117.0					5																	63256927		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256927G>A	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.620C>T	5.37:g.63256927G>A	ENSP00000316244:p.Pro207Leu						p.P207L	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	620	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	207			Helical; Name=5; (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.620C>T	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586595	0.86851	.	.	ENSG00000178394	ENST00000323865	T	0.56103	0.48	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.82815	0.5119	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88259	0.2922	10	0.87932	D	0	.	18.8287	0.92128	0.0:0.0:1.0:0.0	.	207	P08908	5HT1A_HUMAN	L	207	ENSP00000316244:P207L	ENSP00000316244:P207L	P	-	2	0	HTR1A	63292683	1.000000	0.71417	0.977000	0.42913	0.977000	0.68977	9.869000	0.99810	2.692000	0.91855	0.655000	0.94253	CCG		0.587	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		5	186	0	0	0	0.000602	0	5	186				
TNPO1	3842	broad.mit.edu	37	5	72201204	72201204	+	Silent	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:72201204A>G	ENST00000337273.5	+	24	3090	c.2664A>G	c.(2662-2664)ttA>ttG	p.L888L	TNPO1_ENST00000506351.2_Silent_p.L880L|TNPO1_ENST00000454282.1_Silent_p.L838L|TNPO1_ENST00000523768.1_Silent_p.L838L	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	888					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)	p.L880L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CTCTTCCCTTAAAAGAGCGTC	0.358																																							uc003kck.3		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)	7						c.(2662-2664)TTA>TTG		transportin 1 isoform 1							104.0	109.0	107.0					5																	72201204		2203	4300	6503	SO:0001819	synonymous_variant	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72201204A>G	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2664A>G	5.37:g.72201204A>G						TNPO1_uc011csj.1_Silent_p.L838L|TNPO1_uc003kch.2_Silent_p.L880L|TNPO1_uc003kci.3_Silent_p.L880L|TNPO1_uc003kcg.3_Silent_p.L880L	p.L888L	NM_002270	NP_002261	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	24	2811	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	888					B4DVC6|Q92957|Q92975	Silent	SNP	ENST00000337273.5	37	c.2664A>G	CCDS43329.1																																																																																				0.358	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		21	127	0	0	0	0.010504	0	21	127				
SERINC5	256987	broad.mit.edu	37	5	79473158	79473158	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:79473158C>A	ENST00000507668.2	-	4	586	c.436G>T	c.(436-438)Gat>Tat	p.D146Y	SERINC5_ENST00000509193.1_Missense_Mutation_p.D146Y|SERINC5_ENST00000512721.1_Missense_Mutation_p.D146Y|SERINC5_ENST00000512972.2_Missense_Mutation_p.D146Y|SERINC5_ENST00000513907.1_5'UTR	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	146					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)	p.D145Y(1)|p.D146Y(1)		endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GTGTCCTGATCTGGAATGAAG	0.403																																							uc003kgj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(436-438)GAT>TAT		developmentally regulated protein TPO1							123.0	113.0	116.0					5																	79473158		1851	4088	5939	SO:0001583	missense	256987				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane		g.chr5:79473158C>A	AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.436G>T	5.37:g.79473158C>A	ENSP00000426237:p.Asp146Tyr					SERINC5_uc003kgk.2_Missense_Mutation_p.D146Y|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Missense_Mutation_p.D146Y|SERINC5_uc011ctj.1_Missense_Mutation_p.D146Y	p.D146Y	NM_178276	NP_840060	Q86VE9	SERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)	4	565	-		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)	146			Cytoplasmic (Potential).		B4DMH7|Q495A4|Q495A6	Missense_Mutation	SNP	ENST00000507668.2	37	c.436G>T	CCDS54873.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305037	0.81247	.	.	ENSG00000164300	ENST00000507668;ENST00000329637;ENST00000509193;ENST00000512972;ENST00000512721	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	5.36	5.36	0.76844	.	0.143012	0.64402	D	0.000008	T	0.45196	0.1330	M	0.74258	2.255	0.58432	D	0.999999	D;P;D;D	0.89917	0.999;0.732;1.0;1.0	D;P;D;D	0.79108	0.979;0.458;0.992;0.992	T	0.37384	-0.9708	10	0.62326	D	0.03	.	19.4651	0.94934	0.0:1.0:0.0:0.0	.	146;146;146;146	B4DMH7;Q86VE9-2;D6RHG7;Q86VE9	.;.;.;SERC5_HUMAN	Y	146;145;146;146;146	ENSP00000426237:D146Y;ENSP00000426134:D146Y;ENSP00000421665:D146Y;ENSP00000420863:D146Y	ENSP00000327542:D145Y	D	-	1	0	SERINC5	79508914	0.997000	0.39634	0.998000	0.56505	0.998000	0.95712	3.698000	0.54771	2.671000	0.90904	0.655000	0.94253	GAT		0.403	SERINC5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_178276		13	46	1	0	2.32078e-09	0.003163	3.49073e-09	13	46				
FER	2241	broad.mit.edu	37	5	108516501	108516501	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:108516501G>A	ENST00000281092.4	+	18	2486	c.2102G>A	c.(2101-2103)aGt>aAt	p.S701N	FER_ENST00000438717.2_Missense_Mutation_p.S526N	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	701	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.S701N(1)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CTGAAAATCAGTGACTTTGGA	0.398																																					Colon(146;1051 1799 9836 27344 47401)	Colon(146;1051 1799 9836 27344 47401)	uc003kop.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|kidney(1)	5						c.(2101-2103)AGT>AAT		fer (fps/fes related) tyrosine kinase							131.0	123.0	126.0					5																	108516501		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108516501G>A	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2102G>A	5.37:g.108516501G>A	ENSP00000281092:p.Ser701Asn					FER_uc011cvg.1_Missense_Mutation_p.S526N	p.S701N	NM_005246	NP_005237	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	18	2486	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	701			Protein kinase.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.2102G>A	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915625	0.92178	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	D;D	0.84800	-1.9;-1.9	5.35	5.35	0.76521	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93497	0.7925	M	0.87456	2.885	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	D	0.94342	0.7571	10	0.87932	D	0	-20.3262	19.1002	0.93270	0.0:0.0:1.0:0.0	.	701	P16591	FER_HUMAN	N	701;526	ENSP00000281092:S701N;ENSP00000394297:S526N	ENSP00000281092:S701N	S	+	2	0	FER	108544400	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.864000	0.99589	2.500000	0.84329	0.650000	0.86243	AGT		0.398	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		25	88	0	0	0	0.00333	0	25	88				
DMXL1	1657	broad.mit.edu	37	5	118500202	118500202	+	Splice_Site	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:118500202G>T	ENST00000311085.8	+	20	4783	c.4703G>T	c.(4702-4704)gGc>gTc	p.G1568V	DMXL1_ENST00000539542.1_Splice_Site_p.G1568V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1568								p.G1568V(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATTTCTTCAGGCCTGTCTACA	0.333																																							uc003ksd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(4702-4704)GGC>GTC		Dmx-like 1							65.0	63.0	63.0					5																	118500202		2202	4300	6502	SO:0001630	splice_region_variant	1657							g.chr5:118500202G>T	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.4703-1G>T	5.37:g.118500202G>T						DMXL1_uc010jcl.1_Missense_Mutation_p.G1568V	p.G1568V	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	20	4884	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	1568						Missense_Mutation	SNP	ENST00000311085.8	37	c.4703G>T	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367478	0.82463	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.41065	1.01;1.01	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.67344	0.2883	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68375	-0.5425	9	.	.	.	.	19.0871	0.93209	0.0:0.0:1.0:0.0	.	1568;1568	F5H269;Q9Y485	.;DMXL1_HUMAN	V	1568	ENSP00000309690:G1568V;ENSP00000439479:G1568V	.	G	+	2	0	DMXL1	118528101	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.790000	0.99075	2.514000	0.84764	0.591000	0.81541	GGC		0.333	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	Missense_Mutation	12	45	1	0	6.40141e-05	0.000978	8.01272e-05	12	45				
MEGF10	84466	broad.mit.edu	37	5	126769092	126769092	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:126769092G>A	ENST00000274473.6	+	15	1998	c.1731G>A	c.(1729-1731)tgG>tgA	p.W577*	MEGF10_ENST00000503335.2_Nonsense_Mutation_p.W577*	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	577	EGF-like 11. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.W577*(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGGGACGCTGGGGCCCCAACT	0.577																																							uc003kuh.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)	4						c.(1729-1731)TGG>TGA		multiple EGF-like-domains 10 precursor							116.0	111.0	113.0					5																	126769092		2203	4300	6503	SO:0001587	stop_gained	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126769092G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1731G>A	5.37:g.126769092G>A	ENSP00000274473:p.Trp577*					MEGF10_uc003kui.3_Nonsense_Mutation_p.W577*	p.W577*	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	15	2093	+		Prostate(80;0.165)	577			Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 11.		Q68DE5|Q8WUL3	Nonsense_Mutation	SNP	ENST00000274473.6	37	c.1731G>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	42	9.354734	0.99147	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	.	.	.	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-23.1835	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	577	.	ENSP00000274473:W577X	W	+	3	0	MEGF10	126796991	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.823000	0.99369	2.824000	0.97209	0.655000	0.94253	TGG		0.577	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		13	60	0	0	0	0.001855	0	13	60				
SEPT8	23176	broad.mit.edu	37	5	132097248	132097248	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:132097248G>A	ENST00000378719.2	-	7	1101	c.864C>T	c.(862-864)ctC>ctT	p.L288L	SEPT8_ENST00000378706.1_Silent_p.L288L|SEPT8_ENST00000378721.4_Silent_p.L286L|SEPT8_ENST00000296873.7_Silent_p.L288L|SEPT8_ENST00000458488.2_Silent_p.L288L|SEPT8_ENST00000378699.2_Silent_p.L228L|SEPT8_ENST00000378701.1_Silent_p.L286L|SEPT8_ENST00000448933.1_Silent_p.L228L|SEPT8_ENST00000481030.1_5'Flank	NM_001098811.1	NP_001092281.1	Q92599	SEPT8_HUMAN	septin 8	288	Septin-type G.				cell cycle (GO:0007049)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.L288L(1)	SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTGCTCGCGGAGGTCTTCCA	0.592																																							uc003kxr.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(862-864)CTC>CTT		septin 8 isoform a							68.0	75.0	73.0					5																	132097248		2191	4296	6487	SO:0001819	synonymous_variant	23176				cell cycle	septin complex	GTP binding|protein binding	g.chr5:132097248G>A	AF179995	CCDS43358.1, CCDS43359.1, CCDS43360.1, CCDS47262.1, CCDS75298.1	5q31	2013-01-21			ENSG00000164402	ENSG00000164402		"""Septins"""	16511	protein-coding gene	gene with protein product		608418				9039502, 9149945	Standard	NM_001098812		Approved	KIAA0202, SEP2	uc003kxr.2	Q92599	OTTHUMG00000059735	ENST00000378719.2:c.864C>T	5.37:g.132097248G>A						SEPT8_uc003kxs.1_Silent_p.L288L|SEPT8_uc003kxu.2_Silent_p.L288L|SEPT8_uc011cxi.1_Silent_p.L286L|SEPT8_uc003kxv.2_Silent_p.L286L|SEPT8_uc003kxt.2_Silent_p.L228L	p.L288L	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	1102	-		all_cancers(142;0.0751)|Breast(839;0.198)	288					A6NC65|A6NKP6|F6W7K9|Q8IX36|Q8IX37|Q9BVB3	Silent	SNP	ENST00000378719.2	37	c.864C>T	CCDS43358.1																																																																																				0.592	SEPT8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132827.2	XM_034872		8	33	0	0	0	0.004482	0	8	33				
TGFBI	7045	broad.mit.edu	37	5	135390519	135390519	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:135390519G>A	ENST00000442011.2	+	10	1540	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	460	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.G460D(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTCTGGGCGGCAAAAAACTG	0.423																																							uc003lbf.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(1378-1380)GGC>GAC		transforming growth factor, beta-induced, 68kDa							179.0	180.0	179.0					5																	135390519		1837	4078	5915	SO:0001583	missense	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135390519G>A	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1379G>A	5.37:g.135390519G>A	ENSP00000416330:p.Gly460Asp					TGFBI_uc003lbg.3_Missense_Mutation_p.G193D|TGFBI_uc003lbh.3_Missense_Mutation_p.G286D|TGFBI_uc011cyb.1_Missense_Mutation_p.G286D|TGFBI_uc010jed.2_Missense_Mutation_p.G193D	p.G460D	NM_000358	NP_000349	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		10	1540	+			460			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	ENST00000442011.2	37	c.1379G>A	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.734757	0.89482	.	.	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	T;T	0.77098	-1.07;-1.07	5.83	5.83	0.93111	FAS1 domain (5);	0.045109	0.85682	D	0.000000	T	0.80757	0.4684	M	0.65975	2.015	0.80722	D	1	P;P	0.48230	0.704;0.907	P;P	0.48654	0.463;0.585	T	0.82489	-0.0432	10	0.66056	D	0.02	7.7385	13.748	0.62887	0.0787:0.0:0.9213:0.0	.	193;460	B9ZVW9;Q15582	.;BGH3_HUMAN	D	460;193;460	ENSP00000416330:G460D;ENSP00000306306:G460D	ENSP00000306306:G460D	G	+	2	0	TGFBI	135418418	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.936000	0.87665	2.769000	0.95229	0.655000	0.94253	GGC		0.423	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			5	223	0	0	0	0.000602	0	5	223				
PCDHA1	56147	broad.mit.edu	37	5	140167035	140167035	+	Missense_Mutation	SNP	G	G	T	rs377533105		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:140167035G>T	ENST00000504120.2	+	1	1160	c.1160G>T	c.(1159-1161)tGc>tTc	p.C387F	PCDHA1_ENST00000378133.3_Missense_Mutation_p.C387F|PCDHA1_ENST00000394633.3_Missense_Mutation_p.C387F	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	387	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C387F(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGACTTGCTCCTTAATG	0.567																																							uc003lhb.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1159-1161)TGC>TTC		protocadherin alpha 1 isoform 1 precursor							125.0	109.0	114.0					5																	140167035		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167035G>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1160G>T	5.37:g.140167035G>T	ENSP00000420840:p.Cys387Phe					PCDHA1_uc003lha.2_Missense_Mutation_p.C387F|PCDHA1_uc003lgz.2_Missense_Mutation_p.C387F	p.C387F	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1160	+			387			Cadherin 4.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1160G>T	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	13.97	2.395474	0.42512	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.48522	0.81;0.81;0.81	4.06	4.06	0.47325	Cadherin (4);Cadherin-like (1);	0.000000	0.47093	U	0.000245	T	0.66257	0.2771	L	0.61036	1.89	0.44807	D	0.997813	D;D;D	0.89917	1.0;0.992;1.0	D;P;D	0.85130	0.997;0.887;0.976	T	0.71833	-0.4473	10	0.87932	D	0	.	16.5704	0.84611	0.0:0.0:1.0:0.0	.	387;387;387	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	F	387	ENSP00000420840:C387F;ENSP00000378129:C387F;ENSP00000367373:C387F	ENSP00000367373:C387F	C	+	2	0	PCDHA1	140147219	1.000000	0.71417	0.755000	0.31263	0.012000	0.07955	9.764000	0.98949	1.988000	0.58038	0.555000	0.69702	TGC		0.567	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		24	61	1	0	1.37878e-21	0.00333	2.47638e-21	24	61				
PCDHA4	56144	broad.mit.edu	37	5	140188946	140188946	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:140188946C>T	ENST00000530339.1	+	1	2174	c.2174C>T	c.(2173-2175)gCg>gTg	p.A725V	PCDHA4_ENST00000356878.4_Missense_Mutation_p.A725V|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A725V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	725					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A725V(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTGCTCTGCGCTGCCCACC	0.662																																							uc003lhi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(2173-2175)GCG>GTG		protocadherin alpha 4 isoform 1 precursor							54.0	49.0	51.0					5																	140188946		2203	4300	6503	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140188946C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.2174C>T	5.37:g.140188946C>T	ENSP00000435300:p.Ala725Val					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Missense_Mutation_p.A725V|PCDHA4_uc011daa.1_Missense_Mutation_p.A725V	p.A725V	NM_018907	NP_061730	Q9UN74	PCDA4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2275	+			725			Cytoplasmic (Potential).		O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.2174C>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	6.391	0.440249	0.12104	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.74526	-0.85;-0.85;-0.85	3.4	2.51	0.30379	.	0.412522	0.17272	U	0.180353	T	0.63733	0.2536	L	0.49513	1.565	0.09310	N	1	B;B;B	0.27853	0.191;0.016;0.028	B;B;B	0.27262	0.078;0.009;0.009	T	0.50021	-0.8876	10	0.25751	T	0.34	.	7.0543	0.25091	0.0:0.7244:0.1746:0.101	.	725;725;725	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	V	725	ENSP00000423470:A725V;ENSP00000349344:A725V;ENSP00000435300:A725V	ENSP00000349344:A725V	A	+	2	0	PCDHA4	140169130	0.000000	0.05858	0.027000	0.17364	0.005000	0.04900	0.086000	0.14935	0.741000	0.32674	0.484000	0.47621	GCG		0.662	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907		16	44	0	0	0	0.00499	0	16	44				
PCDHA11	56138	broad.mit.edu	37	5	140250613	140250613	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:140250613C>G	ENST00000398640.2	+	1	1925	c.1925C>G	c.(1924-1926)cCg>cGg	p.P642R	PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	642	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P642R(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGACTCGCCGCGCCACCGA	0.687																																							uc003lia.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1924-1926)CCG>CGG		protocadherin alpha 11 isoform 1 precursor							38.0	45.0	43.0					5																	140250613		2203	4298	6501	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140250613C>G	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1925C>G	5.37:g.140250613C>G	ENSP00000381636:p.Pro642Arg					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.P642R	p.P642R	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2783	+			642			Extracellular (Potential).|Cadherin 6.		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1925C>G	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	C	6.166	0.398899	0.11696	.	.	ENSG00000249158	ENST00000398640	T	0.49432	0.78	4.57	4.57	0.56435	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.42675	0.1213	L	0.47016	1.485	0.09310	N	1	B;B	0.25390	0.028;0.125	B;B	0.31812	0.083;0.136	T	0.28839	-1.0031	9	0.23302	T	0.38	.	10.7	0.45922	0.0:0.9112:0.0:0.0888	.	642;642	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	R	642	ENSP00000381636:P642R	ENSP00000381636:P642R	P	+	2	0	PCDHA11	140230797	0.000000	0.05858	0.022000	0.16811	0.004000	0.04260	-0.737000	0.04877	2.101000	0.63845	0.556000	0.70494	CCG		0.687	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		13	29	0	0	0	0.003163	0	13	29				
PCDHB5	26167	broad.mit.edu	37	5	140515678	140515678	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:140515678C>A	ENST00000231134.5	+	1	879	c.662C>A	c.(661-663)cCc>cAc	p.P221H		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	221	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P221H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGGCTCCGCCCAGGTCCGGG	0.557																																							uc003liq.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(661-663)CCC>CAC		protocadherin beta 5 precursor							82.0	92.0	88.0					5																	140515678		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515678C>A	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.662C>A	5.37:g.140515678C>A	ENSP00000231134:p.Pro221His						p.P221H	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	879	+			221			Cadherin 2.|Extracellular (Potential).		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.662C>A	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855654	0.32791	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.57107	0.42	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.76076	0.3937	M	0.93016	3.37	0.24874	N	0.99227	D	0.76494	0.999	D	0.73708	0.981	T	0.70699	-0.4800	9	0.62326	D	0.03	.	8.6737	0.34165	0.152:0.7721:0.0:0.0758	.	221	Q9Y5E4	PCDB5_HUMAN	H	221;5	ENSP00000231134:P221H	ENSP00000231134:P221H	P	+	2	0	PCDHB5	140495862	0.000000	0.05858	1.000000	0.80357	0.361000	0.29550	0.038000	0.13862	2.683000	0.91414	0.555000	0.69702	CCC		0.557	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		18	102	1	0	5.3912e-06	0.006122	7.17845e-06	18	102				
PCDHB5	26167	broad.mit.edu	37	5	140515852	140515852	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:140515852A>G	ENST00000231134.5	+	1	1053	c.836A>G	c.(835-837)tAt>tGt	p.Y279C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	279	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y279C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTGTAGCCTATGCTCTATTC	0.468																																							uc003liq.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(835-837)TAT>TGT		protocadherin beta 5 precursor							122.0	124.0	123.0					5																	140515852		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140515852A>G	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.836A>G	5.37:g.140515852A>G	ENSP00000231134:p.Tyr279Cys						p.Y279C	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1053	+			279			Cadherin 3.|Extracellular (Potential).		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.836A>G	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.627819	0.28978	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.63255	-0.03	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.88074	0.6339	H	0.99261	4.49	0.44061	D	0.996809	D	0.89917	1.0	D	0.97110	1.0	D	0.93089	0.6498	9	0.87932	D	0	.	15.6541	0.77121	1.0:0.0:0.0:0.0	.	279	Q9Y5E4	PCDB5_HUMAN	C	279;63	ENSP00000231134:Y279C	ENSP00000231134:Y279C	Y	+	2	0	PCDHB5	140496036	1.000000	0.71417	0.041000	0.18516	0.024000	0.10985	6.310000	0.72830	2.166000	0.68216	0.454000	0.30748	TAT		0.468	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		49	146	0	0	0	0.00361	0	49	146				
PCDHB6	56130	broad.mit.edu	37	5	140531098	140531098	+	Silent	SNP	G	G	A	rs201133451		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:140531098G>A	ENST00000231136.1	+	1	1260	c.1260G>A	c.(1258-1260)acG>acA	p.T420T	PCDHB6_ENST00000543635.1_Silent_p.T284T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	420	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.T420T(2)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACTATCACGGTCACTGATT	0.532																																							uc003lir.2		NA																	2	Substitution - coding silent(2)		lung(1)|endometrium(1)	skin(1)	1						c.(1258-1260)ACG>ACA		protocadherin beta 6 precursor							121.0	122.0	121.0					5																	140531098		2203	4300	6503	SO:0001819	synonymous_variant	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140531098G>A	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1260G>A	5.37:g.140531098G>A						PCDHB6_uc011dah.1_Silent_p.T284T	p.T420T	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1260	+			420			Cadherin 4.|Extracellular (Potential).		B2R8R9	Silent	SNP	ENST00000231136.1	37	c.1260G>A	CCDS4248.1																																																																																				0.532	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		9	70	0	0	0	0.004482	0	9	70				
YIPF5	81555	broad.mit.edu	37	5	143545042	143545042	+	Missense_Mutation	SNP	C	C	A	rs377199585		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:143545042C>A	ENST00000274496.5	-	3	371	c.237G>T	c.(235-237)caG>caT	p.Q79H	YIPF5_ENST00000448443.2_Missense_Mutation_p.Q79H|YIPF5_ENST00000513112.1_Missense_Mutation_p.Q25H	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	79	Interaction with Sec23.				protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum exit site (GO:0070971)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)		p.Q79H(1)		large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			CATAGAAAGGCTGAGGTGAAG	0.448																																							uc003lnk.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(235-237)CAG>CAT		Yip1 domain family, member 5							214.0	185.0	195.0					5																	143545042		2203	4300	6503	SO:0001583	missense	81555				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane		g.chr5:143545042C>A	AF318329	CCDS4279.1, CCDS64277.1	5q31.3	2009-01-12			ENSG00000145817	ENSG00000145817		"""Yip1 domain family"""	24877	protein-coding gene	gene with protein product		611483				12975309, 18718466	Standard	NM_001024947		Approved	SMAP-5, FinGER5	uc003lnl.5	Q969M3	OTTHUMG00000129679	ENST00000274496.5:c.237G>T	5.37:g.143545042C>A	ENSP00000274496:p.Gln79His					YIPF5_uc003lnl.3_Missense_Mutation_p.Q79H|YIPF5_uc010jgl.2_Missense_Mutation_p.Q25H	p.Q79H	NM_001024947	NP_001020118	Q969M3	YIPF5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	678	-		all_hematologic(541;0.118)	79			Cytoplasmic (Potential).|Interaction with Sec23.		D3DQF5|Q4VSN6|Q53EX4|Q8NHE5|Q9H338|Q9H3U4	Missense_Mutation	SNP	ENST00000274496.5	37	c.237G>T	CCDS4279.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.391250	0.42410	.	.	ENSG00000145817	ENST00000274496;ENST00000377986;ENST00000448443;ENST00000513112;ENST00000519064;ENST00000522203;ENST00000536767	T;T;T	0.46063	1.46;1.46;0.88	5.72	5.72	0.89469	.	0.162750	0.56097	D	0.000029	T	0.38348	0.1037	L	0.42245	1.32	0.51233	D	0.999912	B	0.09022	0.002	B	0.11329	0.006	T	0.08310	-1.0728	10	0.42905	T	0.14	-6.0586	15.6938	0.77477	0.0:0.8638:0.1362:0.0	.	79	Q969M3	YIPF5_HUMAN	H	79;79;79;25;25;25;79	ENSP00000274496:Q79H;ENSP00000397704:Q79H;ENSP00000425422:Q25H	ENSP00000274496:Q79H	Q	-	3	2	YIPF5	143525235	1.000000	0.71417	0.954000	0.39281	0.915000	0.54546	1.234000	0.32660	2.857000	0.98124	0.650000	0.86243	CAG		0.448	YIPF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251882.1	NM_030799		13	81	1	0	0.00400662	0.004007	0.00447152	13	81				
PPARGC1B	133522	broad.mit.edu	37	5	149216164	149216164	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:149216164G>T	ENST00000309241.5	+	8	2178	c.2146G>T	c.(2146-2148)Ggg>Tgg	p.G716W	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.G716W|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.G652W|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.G677W	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	716					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.G716W(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAGCCGTCTGGGGTTCACCT	0.642																																							uc003lrc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2146-2148)GGG>TGG		peroxisome proliferator-activated receptor							42.0	48.0	46.0					5																	149216164		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216164G>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2146G>T	5.37:g.149216164G>T	ENSP00000312649:p.Gly716Trp					PPARGC1B_uc003lrb.1_Missense_Mutation_p.G716W|PPARGC1B_uc003lrd.2_Missense_Mutation_p.G677W|PPARGC1B_uc003lrf.2_Missense_Mutation_p.G695W|PPARGC1B_uc003lre.1_Missense_Mutation_p.G695W	p.G716W	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2188	+			716					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.2146G>T	CCDS4298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.24|12.24	1.878572|1.878572	0.33162|0.33162	.|.	.|.	ENSG00000155846|ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750|ENST00000434684	T;T;T;T|.	0.08720|.	3.06;3.06;3.07;3.06|.	4.32|4.32	2.29|2.29	0.28610|0.28610	.|.	0.342099|.	0.24539|.	N|.	0.037652|.	T|T	0.45316|0.45316	0.1336|0.1336	M|M	0.68952|0.68952	2.095|2.095	0.21579|0.21579	N|N	0.99964|0.99964	D;D;D;D;D|.	0.64830|.	0.99;0.993;0.99;0.983;0.994|.	D;P;D;P;D|.	0.64877|.	0.924;0.898;0.924;0.842;0.93|.	T|T	0.35001|0.35001	-0.9806|-0.9806	10|5	0.52906|.	T|.	0.07|.	-14.6236|-14.6236	5.6407|5.6407	0.17562|0.17562	0.1108:0.1995:0.6897:0.0|0.1108:0.1995:0.6897:0.0	.|.	695;695;677;716;716|.	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3|.	.;.;.;PRGC2_HUMAN;.|.	W|L	677;716;716;652|402	ENSP00000353638:G677W;ENSP00000377855:G716W;ENSP00000312649:G716W;ENSP00000384403:G652W|.	ENSP00000312649:G716W|.	G|W	+|+	1|2	0|0	PPARGC1B|PPARGC1B	149196357|149196357	0.061000|0.061000	0.20836|0.20836	0.853000|0.853000	0.33588|0.33588	0.713000|0.713000	0.41058|0.41058	1.105000|1.105000	0.31086|0.31086	1.097000|1.097000	0.41459|0.41459	0.456000|0.456000	0.33151|0.33151	GGG|TGG		0.642	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		10	32	1	0	2.17888e-05	0.006214	2.81406e-05	10	32				
FAT2	2196	broad.mit.edu	37	5	150945458	150945458	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:150945458G>T	ENST00000261800.5	-	1	3047	c.3035C>A	c.(3034-3036)aCt>aAt	p.T1012N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1012	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T1012N(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGGCAGAGAGTCCTGCGGGC	0.607																																							uc003lue.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(3034-3036)ACT>AAT		FAT tumor suppressor 2 precursor							55.0	44.0	48.0					5																	150945458		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150945458G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3035C>A	5.37:g.150945458G>T	ENSP00000261800:p.Thr1012Asn					GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.T1012N	p.T1012N	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	3048	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1012			Extracellular (Potential).|Cadherin 8.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.3035C>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980308	0.74474	.	.	ENSG00000086570	ENST00000261800	T	0.56941	0.43	5.29	5.29	0.74685	Cadherin (4);Cadherin-like (1);	0.319926	0.26875	N	0.022058	T	0.50480	0.1618	L	0.31420	0.93	0.48452	D	0.999656	P	0.37688	0.605	B	0.43445	0.42	T	0.47971	-0.9075	10	0.38643	T	0.18	.	18.9385	0.92595	0.0:0.0:1.0:0.0	.	1012	Q9NYQ8	FAT2_HUMAN	N	1012	ENSP00000261800:T1012N	ENSP00000261800:T1012N	T	-	2	0	FAT2	150925651	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.782000	0.99034	2.476000	0.83614	0.655000	0.94253	ACT		0.607	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		6	27	1	0	5.9392e-07	0.001168	8.17619e-07	6	27				
DOCK2	1794	broad.mit.edu	37	5	169129310	169129310	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:169129310A>T	ENST00000256935.8	+	14	1342	c.1262A>T	c.(1261-1263)gAt>gTt	p.D421V	DOCK2_ENST00000540750.1_5'Flank|DOCK2_ENST00000520908.1_5'Flank	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	421					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.D421V(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCTCAGGGGATGTCAGGAAC	0.498											OREG0017017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003maf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(1261-1263)GAT>GTT		dedicator of cytokinesis 2							137.0	123.0	128.0					5																	169129310		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169129310A>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1262A>T	5.37:g.169129310A>T	ENSP00000256935:p.Asp421Val		OREG0017017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1875	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_5'Flank|DOCK2_uc010jjl.1_5'UTR	p.D421V	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		14	1342	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	421			DHR-1.		Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.1262A>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.576585	0.86645	.	.	ENSG00000134516	ENST00000256935	T	0.16324	2.35	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.46541	0.1398	M	0.89601	3.045	0.80722	D	1	P	0.49783	0.928	P	0.58780	0.845	T	0.56792	-0.7920	10	0.72032	D	0.01	.	15.6766	0.77332	1.0:0.0:0.0:0.0	.	421	Q92608	DOCK2_HUMAN	V	421	ENSP00000256935:D421V	ENSP00000256935:D421V	D	+	2	0	DOCK2	169061888	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.021000	0.93673	2.099000	0.63709	0.533000	0.62120	GAT		0.498	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		7	76	0	0	0	0.006214	0	7	76				
FLT4	2324	broad.mit.edu	37	5	180046339	180046339	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr5:180046339G>A	ENST00000261937.6	-	19	2753	c.2675C>T	c.(2674-2676)gCg>gTg	p.A892V	FLT4_ENST00000393347.3_Missense_Mutation_p.A892V|FLT4_ENST00000424276.2_5'Flank|FLT4_ENST00000502649.1_Missense_Mutation_p.A892V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	892	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.A892V(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGACATCAGCGCGCGGTGCTC	0.701																																					Colon(97;1075 1466 27033 27547 35871)	Colon(97;1075 1466 27033 27547 35871)	uc003mma.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(2674-2676)GCG>GTG		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						40.0	37.0	38.0					5																	180046339		2197	4296	6493	SO:0001583	missense	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180046339G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2675C>T	5.37:g.180046339G>A	ENSP00000261937:p.Ala892Val					FLT4_uc003mlz.3_Missense_Mutation_p.A892V	p.A892V	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	19	2754	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	892			Cytoplasmic (Potential).|Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.2675C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	35	5.465357	0.96257	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	D;D;D	0.83755	-1.76;-1.76;-1.76	4.0	4.0	0.46444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.88588	0.6477	L	0.49640	1.575	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90132	0.4207	9	0.87932	D	0	.	16.6758	0.85278	0.0:0.0:1.0:0.0	.	892;892	E9PD35;P35916	.;VGFR3_HUMAN	V	892	ENSP00000261937:A892V;ENSP00000377016:A892V;ENSP00000426057:A892V	ENSP00000261937:A892V	A	-	2	0	FLT4	179978945	1.000000	0.71417	0.993000	0.49108	0.881000	0.50899	9.570000	0.98174	2.229000	0.72834	0.455000	0.32223	GCG		0.701	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			4	16	0	0	0	0.000602	0	4	16				
KDM1B	221656	broad.mit.edu	37	6	18207730	18207730	+	Silent	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:18207730A>G	ENST00000297792.5	+	12	1242	c.1065A>G	c.(1063-1065)gcA>gcG	p.A355A	KDM1B_ENST00000388870.2_Silent_p.A587A|KDM1B_ENST00000397244.1_Silent_p.A355A|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	587	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				DNA methylation involved in gamete generation (GO:0043046)|histone H3-K4 demethylation (GO:0034720)|multicellular organismal development (GO:0007275)|regulation of DNA methylation (GO:0044030)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-monomethyl-K4 specific) (GO:0034649)|oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)	p.A355A(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						AAAAACTGGCAGAAGGGCTTG	0.517																																							uc003nco.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1150-1152)GCA>GCG		amine oxidase (flavin containing) domain 1							93.0	83.0	86.0					6																	18207730		2203	4300	6503	SO:0001819	synonymous_variant	221656				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	g.chr6:18207730A>G	AK125318	CCDS34343.1	6p22.3	2011-07-01	2009-09-29	2009-09-29	ENSG00000165097	ENSG00000165097		"""Chromatin-modifying enzymes / K-demethylases"""	21577	protein-coding gene	gene with protein product		613081	"""amine oxidase, flavin containing 1"", ""chromosome 6 open reading frame 193"", ""amine oxidase (flavin containing) domain 1"""	C6orf193, AOF1		19407342, 19727073	Standard	NM_153042		Approved	FLJ34109, FLJ33898, dJ298J15.2, bA204B7.3, FLJ43328, LSD2	uc003ncn.1	Q8NB78	OTTHUMG00000014316	ENST00000297792.5:c.1065A>G	6.37:g.18207730A>G						KDM1B_uc003ncn.1_Silent_p.A355A	p.A384A	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN			9	1227	+			587					A2A2C5|A2A2C6|Q5TGV3|Q6AI15|Q6ZUU4|Q8N258|Q96EL7	Silent	SNP	ENST00000297792.5	37	c.1152A>G	CCDS34343.1	.	.	.	.	.	.	.	.	.	.	A	9.833	1.188863	0.21954	.	.	ENSG00000165097	ENST00000449850	.	.	.	5.64	-10.1	0.00402	.	.	.	.	.	T	0.17450	0.0419	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40384	-0.9566	4	.	.	.	-20.5642	3.1868	0.06603	0.5399:0.1646:0.0841:0.2114	.	.	.	.	R	404	.	.	Q	+	2	0	KDM1B	18315709	0.075000	0.21258	0.677000	0.29947	0.830000	0.47004	-0.540000	0.06106	-2.083000	0.00867	-1.392000	0.01152	CAG		0.517	KDM1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277080.1	NM_153042		14	43	0	0	0	0.00245	0	14	43				
KIAA0319	9856	broad.mit.edu	37	6	24566863	24566863	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:24566863A>T	ENST00000378214.3	-	14	2778	c.2254T>A	c.(2254-2256)Tat>Aat	p.Y752N	KIAA0319_ENST00000430948.2_Missense_Mutation_p.Y707N|KIAA0319_ENST00000537886.1_Missense_Mutation_p.Y752N|KIAA0319_ENST00000535378.1_Missense_Mutation_p.Y743N|KIAA0319_ENST00000543707.1_Missense_Mutation_p.Y752N	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	752	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y752N(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						ATCCACAGATAGGACACAATT	0.483																																							uc011djo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2254-2256)TAT>AAT		KIAA0319 precursor							107.0	104.0	105.0					6																	24566863		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24566863A>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2254T>A	6.37:g.24566863A>T	ENSP00000367459:p.Tyr752Asn					KIAA0319_uc011djp.1_Missense_Mutation_p.Y707N|KIAA0319_uc003neh.1_Missense_Mutation_p.Y752N|KIAA0319_uc011djq.1_Missense_Mutation_p.Y743N|KIAA0319_uc011djr.1_Missense_Mutation_p.Y752N|KIAA0319_uc010jpt.1_Missense_Mutation_p.Y163N	p.Y752N	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			14	2491	-			752			PKD 5.|Extracellular (Potential).		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.2254T>A	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.648206	0.67358	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17	4.01	2.84	0.33178	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (2);	0.081885	0.49916	D	0.000136	T	0.48205	0.1487	H	0.97240	3.965	0.44388	D	0.997298	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.60576	-0.7236	10	0.87932	D	0	-6.0619	9.3172	0.37941	0.9132:0.0:0.0868:0.0	.	752;743;752	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	N	752;743;707;752;752	ENSP00000439700:Y752N;ENSP00000442403:Y743N;ENSP00000401086:Y707N;ENSP00000367459:Y752N;ENSP00000437656:Y752N	ENSP00000367459:Y752N	Y	-	1	0	KIAA0319	24674842	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.847000	0.69451	0.583000	0.29574	0.482000	0.46254	TAT		0.483	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		10	108	0	0	0	0.006214	0	10	108				
ZKSCAN8	7745	broad.mit.edu	37	6	28121316	28121316	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:28121316G>A	ENST00000330236.6	+	6	1442	c.1258G>A	c.(1258-1260)Ggc>Agc	p.G420S	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.G420S	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	420					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.G420S(1)									TCAGAGTGCGGGCCTTATTCT	0.493																																							uc003nkn.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1258-1260)GGC>AGC		zinc finger protein 192							77.0	81.0	79.0					6																	28121316		2203	4300	6503	SO:0001583	missense	7745				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28121316G>A		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.1258G>A	6.37:g.28121316G>A	ENSP00000332750:p.Gly420Ser					ZNF192_uc010jqx.1_Missense_Mutation_p.G420S|ZNF192_uc010jqy.1_Missense_Mutation_p.G233S|ZNF192_uc011dkz.1_Missense_Mutation_p.G233S	p.G420S	NM_006298	NP_006289	Q15776	ZN192_HUMAN			6	1442	+			420			C2H2-type 4.		A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Missense_Mutation	SNP	ENST00000330236.6	37	c.1258G>A	CCDS4645.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718376	0.30503	.	.	ENSG00000198315	ENST00000330236;ENST00000457389	T;T	0.35421	1.31;1.31	5.99	4.19	0.49359	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000013	T	0.10465	0.0256	N	0.01048	-1.04	0.40081	D	0.976137	P	0.50066	0.931	P	0.54815	0.761	T	0.04781	-1.0927	10	0.16896	T	0.51	.	10.1254	0.42646	0.1708:0.0:0.8292:0.0	.	420	Q15776	ZN192_HUMAN	S	420	ENSP00000332750:G420S;ENSP00000402948:G420S	ENSP00000332750:G420S	G	+	1	0	ZNF192	28229295	0.000000	0.05858	0.973000	0.42090	0.968000	0.65278	-0.621000	0.05559	2.853000	0.98044	0.655000	0.94253	GGC		0.493	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			36	41	0	0	0	0.003271	0	36	41				
OR2B3	442184	broad.mit.edu	37	6	29054770	29054770	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:29054770C>A	ENST00000377173.2	-	1	320	c.256G>T	c.(256-258)Ggt>Tgt	p.G86C		NM_001005226.2	NP_001005226.1	O76000	OR2B3_HUMAN	olfactory receptor, family 2, subfamily B, member 3	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G86C(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TTGTTGCAACCAATATTTACC	0.448																																							uc003nlx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(256-258)GGT>TGT		olfactory receptor, family 2, subfamily B,							131.0	127.0	129.0					6																	29054770		2203	4300	6503	SO:0001583	missense	442184							g.chr6:29054770C>A		CCDS34358.1	6p22.2-p21.31	2012-08-09	2008-10-22	2008-10-22	ENSG00000204703	ENSG00000204703		"""GPCR / Class A : Olfactory receptors"""	8238	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 3 pseudogene"""	OR2B3P			Standard	NM_001005226		Approved	OR6-4	uc003nlx.3	O76000	OTTHUMG00000031226	ENST00000377173.2:c.256G>T	6.37:g.29054770C>A	ENSP00000366378:p.Gly86Cys						p.G86C	NM_001005226	NP_001005226					1	321	-								B0UYQ1|Q5ST41|Q96R13	Missense_Mutation	SNP	ENST00000377173.2	37	c.256G>T	CCDS34358.1	.	.	.	.	.	.	.	.	.	.	C	1.451	-0.565038	0.03939	.	.	ENSG00000204703	ENST00000377173	T	0.01335	5.0	3.9	1.46	0.22682	GPCR, rhodopsin-like superfamily (1);	1.479610	0.04758	N	0.425827	T	0.00356	0.0011	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47156	-0.9139	10	0.27785	T	0.31	.	1.2246	0.01931	0.5041:0.2012:0.1418:0.1529	.	86	O76000	OR2B3_HUMAN	C	86	ENSP00000366378:G86C	ENSP00000366378:G86C	G	-	1	0	OR2B3	29162749	0.000000	0.05858	0.001000	0.08648	0.299000	0.27559	-1.420000	0.02457	-0.001000	0.14495	-0.245000	0.11935	GGT		0.448	OR2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076469.2			43	60	1	0	2.66277e-13	0.006999	4.45419e-13	43	60				
OR2J2	26707	broad.mit.edu	37	6	29142069	29142069	+	Nonsense_Mutation	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:29142069T>G	ENST00000377167.2	+	1	759	c.657T>G	c.(655-657)taT>taG	p.Y219*		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y219*(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCACTACCTATGGTGCCATTG	0.458																																							uc011dlm.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(655-657)TAT>TAG		olfactory receptor, family 2, subfamily J,							153.0	128.0	136.0					6																	29142069		1941	4141	6082	SO:0001587	stop_gained	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29142069T>G		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.657T>G	6.37:g.29142069T>G	ENSP00000366372:p.Tyr219*						p.Y219*	NM_030905	NP_112167	O76002	OR2J2_HUMAN			1	759	+			219			Helical; Name=5; (Potential).		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Nonsense_Mutation	SNP	ENST00000377167.2	37	c.657T>G	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.034797	0.35893	.	.	ENSG00000204700	ENST00000377167	.	.	.	2.0	2.0	0.26442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1857	0.15184	0.0:0.167:0.0:0.833	.	.	.	.	X	219	.	ENSP00000366372:Y219X	Y	+	3	2	OR2J2	29250048	0.001000	0.12720	0.989000	0.46669	0.214000	0.24535	-0.496000	0.06436	0.909000	0.36697	0.172000	0.16884	TAT		0.458	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			16	105	0	0	0	0.00499	0	16	105				
UHRF1BP1	54887	broad.mit.edu	37	6	34835154	34835154	+	Missense_Mutation	SNP	C	C	T	rs201073357	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:34835154C>T	ENST00000192788.5	+	16	3736	c.3565C>T	c.(3565-3567)Ccg>Tcg	p.P1189S	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.P1189S	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1189							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.P1189S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CATCTTTCACCCGGTCAGCAG	0.502																																							uc003oju.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3565-3567)CCG>TCG		ICBP90 binding protein 1		C	SER/PRO	0,3838		0,0,1919	114.0	114.0	114.0		3565	4.3	0.9	6		114	4,8222		0,4,4109	yes	missense	UHRF1BP1	NM_017754.3	74	0,4,6028	TT,TC,CC		0.0486,0.0,0.0332	benign	1189/1441	34835154	4,12060	1919	4113	6032	SO:0001583	missense	54887							g.chr6:34835154C>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3565C>T	6.37:g.34835154C>T	ENSP00000192788:p.Pro1189Ser					UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	p.P1189S	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			16	3799	+			1189					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.3565C>T	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	C	8.469	0.857212	0.17106	0.0	4.86E-4	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.07216	3.21;3.21	5.23	4.35	0.52113	.	0.447804	0.23883	N	0.043637	T	0.01592	0.0051	N	0.08118	0	0.30031	N	0.81344	B	0.06786	0.001	B	0.04013	0.001	T	0.43909	-0.9362	10	0.38643	T	0.18	-2.4085	11.5219	0.50555	0.0:0.9153:0.0:0.0847	.	1189	Q6BDS2	URFB1_HUMAN	S	1189	ENSP00000192788:P1189S;ENSP00000400628:P1189S	ENSP00000192788:P1189S	P	+	1	0	UHRF1BP1	34943132	1.000000	0.71417	0.934000	0.37439	0.937000	0.57800	2.594000	0.46189	1.300000	0.44818	0.655000	0.94253	CCG		0.502	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		16	114	0	0	0	0.003163	0	16	114				
PNPLA1	285848	broad.mit.edu	37	6	36269754	36269754	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:36269754C>G	ENST00000394571.2	+	6	892	c.892C>G	c.(892-894)Cga>Gga	p.R298G	PNPLA1_ENST00000388715.3_Missense_Mutation_p.R203G|PNPLA1_ENST00000312917.5_Missense_Mutation_p.R212G	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	298					lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)	p.R203G(1)|p.R298G(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACCAAGCCTTCGAGCACGGCA	0.582											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010jwf.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						c.(892-894)CGA>GGA		patatin-like phospholipase domain containing 1							72.0	71.0	71.0					6																	36269754		2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36269754C>G		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.892C>G	6.37:g.36269754C>G	ENSP00000378072:p.Arg298Gly		OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861	PNPLA1_uc003olw.1_Missense_Mutation_p.R203G|PNPLA1_uc010jwe.1_Missense_Mutation_p.R212G	p.R298G	NM_001145717	NP_001139189	Q8N8W4	PLPL1_HUMAN			6	892	+			298					A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.892C>G	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410719	0.25465	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.28255	1.84;1.84;1.62;1.62	4.92	3.01	0.34805	.	1.200700	0.06099	N	0.665029	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B;B	0.26483	0.026;0.15	B;B	0.29176	0.018;0.099	T	0.36016	-0.9765	10	0.23302	T	0.38	-0.1868	5.4581	0.16602	0.1977:0.702:0.0:0.1003	.	298;212	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	G	203;212;299;298	ENSP00000373367:R203G;ENSP00000321116:R212G;ENSP00000391868:R299G;ENSP00000378072:R298G	ENSP00000321116:R212G	R	+	1	2	PNPLA1	36377732	0.005000	0.15991	0.006000	0.13384	0.003000	0.03518	2.110000	0.41873	1.434000	0.47414	0.655000	0.94253	CGA		0.582	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		6	36	0	0	0	0.001168	0	6	36				
TREM2	54209	broad.mit.edu	37	6	41127558	41127558	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:41127558C>A	ENST00000373113.3	-	3	547	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	TREM2_ENST00000338469.3_Missense_Mutation_p.D152Y|TREM2_ENST00000373122.4_Missense_Mutation_p.D152Y	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	152					axon guidance (GO:0007411)|dendritic cell differentiation (GO:0097028)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of C-C chemokine receptor CCR7 signaling pathway (GO:1903082)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of CD40 signaling pathway (GO:2000350)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein localization to plasma membrane (GO:1903078)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)	p.D152Y(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACATGGGCATCCTCGAAGCTC	0.627																																							uc003opy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(454-456)GAT>TAT		triggering receptor expressed on myeloid cells 2							66.0	63.0	64.0					6																	41127558		2203	4300	6503	SO:0001583	missense	54209				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	g.chr6:41127558C>A	AF213457	CCDS4852.1, CCDS64422.1	6p21.1	2014-09-17	2002-08-15		ENSG00000095970	ENSG00000095970		"""Immunoglobulin superfamily / V-set domain containing"""	17761	protein-coding gene	gene with protein product		605086	"""triggering receptor expressed on myeloid cells 2a"""			10799849, 12080485	Standard	NM_001271821		Approved	TREM-2, Trem2a, Trem2b, Trem2c	uc003opy.3	Q9NZC2	OTTHUMG00000014671	ENST00000373113.3:c.454G>T	6.37:g.41127558C>A	ENSP00000362205:p.Asp152Tyr					TREM2_uc003opz.2_Missense_Mutation_p.D182Y|TREM2_uc010jxl.1_Missense_Mutation_p.D182Y	p.D152Y	NM_018965	NP_061838	Q9NZC2	TREM2_HUMAN			3	556	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		152			Extracellular (Potential).		Q8N5H8|Q8WYN6	Missense_Mutation	SNP	ENST00000373113.3	37	c.454G>T	CCDS4852.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668637	0.47677	.	.	ENSG00000095970	ENST00000373113;ENST00000338469;ENST00000373122	T;T;T	0.44482	0.97;0.92;1.11	4.81	3.94	0.45596	.	0.883777	0.09644	N	0.774573	T	0.40670	0.1126	L	0.50333	1.59	0.09310	N	1	D;D;P	0.65815	0.995;0.986;0.956	P;P;P	0.61201	0.885;0.814;0.459	T	0.23762	-1.0179	10	0.62326	D	0.03	-0.7657	10.2281	0.43238	0.0:0.907:0.0:0.093	.	152;152;152	Q9NZC2-2;Q9NZC2-3;Q9NZC2	.;.;TREM2_HUMAN	Y	152	ENSP00000362205:D152Y;ENSP00000342651:D152Y;ENSP00000362214:D152Y	ENSP00000342651:D152Y	D	-	1	0	TREM2	41235536	0.004000	0.15560	0.002000	0.10522	0.066000	0.16364	1.995000	0.40767	1.258000	0.44101	0.561000	0.74099	GAT		0.627	TREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040499.1	NM_018965		5	33	1	0	3.59834e-05	0.001168	4.59055e-05	5	33				
USP49	25862	broad.mit.edu	37	6	41774568	41774568	+	Missense_Mutation	SNP	C	C	T	rs148441118	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:41774568C>T	ENST00000394253.3	-	3	483	c.154G>A	c.(154-156)Gac>Aac	p.D52N	USP49_ENST00000297229.2_Missense_Mutation_p.D52N|USP49_ENST00000373009.3_Missense_Mutation_p.D52N|USP49_ENST00000373006.1_Missense_Mutation_p.D52N|USP49_ENST00000373010.1_Missense_Mutation_p.D52N			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	52					histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.D52N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGGGCGTGGTCCTCAATATAG	0.587													C|||	2	0.000399361	0.0	0.0	5008	,	,		13562	0.001		0.001	False		,,,				2504	0.0						uc003ori.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(154-156)GAC>AAC		ubiquitin thioesterase 49		C	ASN/ASP	0,4406		0,0,2203	97.0	103.0	101.0		154	5.1	1.0	6	dbSNP_134	101	6,8594	4.3+/-15.6	0,6,4294	yes	missense	USP49	NM_018561.3	23	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	benign	52/641	41774568	6,13000	2203	4300	6503	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41774568C>T	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.154G>A	6.37:g.41774568C>T	ENSP00000377797:p.Asp52Asn						p.D52N	NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		4	376	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		52			UBP-type.		Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.154G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	27.7	4.856125	0.91355	0.0	6.98E-4	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.05	5.05	0.67936	.	0.048851	0.85682	D	0.000000	T	0.13157	0.0319	N	0.05280	-0.08	0.47214	D	0.99935	P	0.37500	0.597	B	0.41666	0.363	T	0.16897	-1.0387	10	0.59425	D	0.04	-16.9524	18.203	0.89844	0.0:1.0:0.0:0.0	.	52	Q70CQ1-2	.	N	52	ENSP00000377797:D52N;ENSP00000362101:D52N;ENSP00000362100:D52N;ENSP00000362097:D52N;ENSP00000297229:D52N	ENSP00000297229:D52N	D	-	1	0	USP49	41882546	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	5.581000	0.67471	2.624000	0.88883	0.655000	0.94253	GAC		0.587	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		7	97	0	0	0	0.00308	0	7	97				
SLC22A7	10864	broad.mit.edu	37	6	43267156	43267156	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:43267156T>A	ENST00000372585.5	+	3	523	c.428T>A	c.(427-429)cTg>cAg	p.L143Q	SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372574.3_Missense_Mutation_p.L141Q|SLC22A7_ENST00000372589.3_Missense_Mutation_p.L141Q	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	143					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.L143Q(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CAGAAAGGTCTGAACAGAGCT	0.582																																							uc003out.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(427-429)CTG>CAG		solute carrier family 22 member 7 isoform b							129.0	118.0	122.0					6																	43267156		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43267156T>A	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.428T>A	6.37:g.43267156T>A	ENSP00000361666:p.Leu143Gln					SLC22A7_uc010jyl.1_Missense_Mutation_p.L141Q|SLC22A7_uc003ous.2_Missense_Mutation_p.L141Q	p.L143Q	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		3	527	+			143					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.428T>A	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	T	18.85	3.710522	0.68730	.	.	ENSG00000137204	ENST00000451757;ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T;T	0.73681	-0.77;-0.12;-0.02;-0.02;-0.02	5.08	5.08	0.68730	Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000008	T	0.80854	0.4703	M	0.72576	2.205	0.48762	D	0.999702	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.995;0.991;0.991	D	0.83809	0.0240	10	0.72032	D	0.01	.	12.3768	0.55285	0.0:0.0:0.0:1.0	.	143;141;141	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	Q	12;202;141;143;141	ENSP00000416052:L12Q;ENSP00000411818:L202Q;ENSP00000361670:L141Q;ENSP00000361666:L143Q;ENSP00000361655:L141Q	ENSP00000361655:L141Q	L	+	2	0	SLC22A7	43375134	1.000000	0.71417	0.854000	0.33618	0.433000	0.31745	6.867000	0.75511	1.908000	0.55244	0.383000	0.25322	CTG		0.582	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			4	63	0	0	0	0.000602	0	4	63				
ZNF318	24149	broad.mit.edu	37	6	43322931	43322931	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:43322931T>A	ENST00000361428.2	-	4	2218	c.2141A>T	c.(2140-2142)aAg>aTg	p.K714M	ZNF318_ENST00000318149.3_Missense_Mutation_p.K714M	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	714					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K714M(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATGGTCAGACTTTAGGAATGG	0.512																																							uc003oux.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(2140-2142)AAG>ATG		zinc finger protein 318							104.0	95.0	98.0					6																	43322931		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43322931T>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.2141A>T	6.37:g.43322931T>A	ENSP00000354964:p.Lys714Met					ZNF318_uc003ouw.2_RNA	p.K714M	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		4	2219	-			714					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.2141A>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	T	13.90	2.374845	0.42105	.	.	ENSG00000171467	ENST00000318149;ENST00000361428	T;T	0.37915	1.17;2.34	6.17	6.17	0.99709	.	0.270562	0.38164	N	0.001792	T	0.35068	0.0919	N	0.24115	0.695	0.40299	D	0.978584	D	0.89917	1.0	D	0.78314	0.991	T	0.38887	-0.9640	10	0.66056	D	0.02	-17.8278	12.4321	0.55578	0.1256:0.0:0.0:0.8744	.	714	Q5VUA4	ZN318_HUMAN	M	714	ENSP00000323032:K714M;ENSP00000354964:K714M	ENSP00000323032:K714M	K	-	2	0	ZNF318	43430909	1.000000	0.71417	0.976000	0.42696	0.495000	0.33615	3.716000	0.54904	2.371000	0.80710	0.533000	0.62120	AAG		0.512	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		9	35	0	0	0	0.006214	0	9	35				
XPO5	57510	broad.mit.edu	37	6	43498531	43498531	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:43498531T>A	ENST00000265351.7	-	23	2782	c.2572A>T	c.(2572-2574)Atg>Ttg	p.M858L		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	858					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)	p.M858L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TCTTGCTGCATGGAAGGGCCT	0.463																																							uc003ovp.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|breast(1)|kidney(1)	4						c.(2572-2574)ATG>TTG		exportin 5							82.0	79.0	80.0					6																	43498531		1916	4114	6030	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43498531T>A	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2572A>T	6.37:g.43498531T>A	ENSP00000265351:p.Met858Leu						p.M858L	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		23	2783	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		858					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.2572A>T	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	T	5.526	0.281960	0.10458	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372258;ENST00000439465	T	0.63744	-0.06	5.83	4.65	0.58169	Armadillo-like helical (1);Armadillo-type fold (1);	0.087239	0.85682	N	0.000000	T	0.22742	0.0549	N	0.20881	0.62	0.38803	D	0.955241	B	0.09022	0.002	B	0.08055	0.003	T	0.16808	-1.0390	10	0.02654	T	1	-23.5885	13.1469	0.59467	0.0:0.0:0.1336:0.8664	.	858	Q9HAV4	XPO5_HUMAN	L	858;563;398;486	ENSP00000265351:M858L	ENSP00000265351:M858L	M	-	1	0	XPO5	43606509	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.866000	0.48420	1.006000	0.39211	0.482000	0.46254	ATG		0.463	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		10	44	0	0	0	0.006214	0	10	44				
MUT	4594	broad.mit.edu	37	6	49412407	49412407	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:49412407C>A	ENST00000274813.3	-	9	1748	c.1621G>T	c.(1621-1623)Gct>Tct	p.A541S		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	541					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)	p.A541S(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGCTAGCAGCACATTCGGTT	0.438																																							uc003ozg.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1621-1623)GCT>TCT		methylmalonyl Coenzyme A mutase precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						194.0	187.0	190.0					6																	49412407		2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49412407C>A		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1621G>T	6.37:g.49412407C>A	ENSP00000274813:p.Ala541Ser						p.A541S	NM_000255	NP_000246	P22033	MUTA_HUMAN			9	1876	-	Lung NSC(77;0.0376)		541					A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.1621G>T	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770592	0.69992	.	.	ENSG00000146085	ENST00000274813	D	0.98807	-5.15	5.31	5.31	0.75309	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.99402	0.9789	M	0.89214	3.015	0.80722	D	1	B	0.30511	0.282	P	0.61722	0.893	D	0.98237	1.0486	10	0.72032	D	0.01	-14.8882	18.3267	0.90256	0.0:1.0:0.0:0.0	.	541	P22033	MUTA_HUMAN	S	541	ENSP00000274813:A541S	ENSP00000274813:A541S	A	-	1	0	MUT	49520366	1.000000	0.71417	0.996000	0.52242	0.296000	0.27459	4.989000	0.63870	2.638000	0.89438	0.585000	0.79938	GCT		0.438	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			25	223	1	0	1.04121e-07	0.005443	1.4637e-07	25	223				
RHAG	6005	broad.mit.edu	37	6	49582494	49582494	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:49582494C>A	ENST00000371175.4	-	5	739	c.713G>T	c.(712-714)aGg>aTg	p.R238M	RHAG_ENST00000229810.7_Missense_Mutation_p.R238M	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	238					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.R238M(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TACAATGGCCCTGCACTGTTT	0.507																																					Ovarian(176;476 2003 7720 43408 44749)	Ovarian(176;476 2003 7720 43408 44749)	uc003ozk.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(712-714)AGG>ATG		Rh-associated glycoprotein							215.0	186.0	196.0					6																	49582494		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49582494C>A		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.713G>T	6.37:g.49582494C>A	ENSP00000360217:p.Arg238Met					RHAG_uc010jzl.2_Missense_Mutation_p.R238M|RHAG_uc010jzm.2_Missense_Mutation_p.R238M	p.R238M	NM_000324	NP_000315	Q02094	RHAG_HUMAN			5	775	-	Lung NSC(77;0.0255)		238			Extracellular (Potential).		B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.713G>T	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	C	11.86	1.764450	0.31228	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.24908	1.83;1.83	5.76	-0.674	0.11369	Ammonium transporter AmtB-like (3);	0.385169	0.34652	N	0.003791	T	0.11067	0.0270	M	0.62154	1.92	0.09310	N	0.999992	P;P;B	0.47191	0.891;0.461;0.324	P;B;B	0.45138	0.471;0.376;0.38	T	0.12400	-1.0549	10	0.66056	D	0.02	-1.9486	3.3864	0.07273	0.4959:0.1996:0.1844:0.12	.	238;238;238	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	M	238	ENSP00000360217:R238M;ENSP00000229810:R238M	ENSP00000229810:R238M	R	-	2	0	RHAG	49690453	0.000000	0.05858	0.005000	0.12908	0.172000	0.22775	-0.439000	0.06897	-0.140000	0.11394	-0.119000	0.15052	AGG		0.507	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			11	67	1	0	3.07112e-06	0.000978	4.13441e-06	11	67				
PKHD1	5314	broad.mit.edu	37	6	51907900	51907900	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:51907900C>A	ENST00000371117.3	-	27	3129	c.2854G>T	c.(2854-2856)Gga>Tga	p.G952*	PKHD1_ENST00000340994.4_Nonsense_Mutation_p.G952*	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	952	IPT/TIG 4.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.G952*(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAACCAGTTCCGGTAATGTAA	0.353																																							uc003pah.1		NA																	2	Substitution - Nonsense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	GRCh37	CM054810	PKHD1	M		c.(2854-2856)GGA>TGA		fibrocystin isoform 1							66.0	66.0	66.0					6																	51907900		2203	4300	6503	SO:0001587	stop_gained	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51907900C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2854G>T	6.37:g.51907900C>A	ENSP00000360158:p.Gly952*					PKHD1_uc003pai.2_Nonsense_Mutation_p.G952*	p.G952*	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			27	3130	-	Lung NSC(77;0.0605)		952			IPT/TIG 4.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	c.2854G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	41	8.953255	0.99016	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.2403	0.87011	0.0:1.0:0.0:0.0	.	.	.	.	X	952	.	ENSP00000341097:G952X	G	-	1	0	PKHD1	52015859	0.998000	0.40836	0.690000	0.30148	0.137000	0.21094	4.747000	0.62141	2.861000	0.98227	0.650000	0.86243	GGA		0.353	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		7	41	1	0	8.12818e-05	0.001984	0.000100707	7	41				
DST	667	broad.mit.edu	37	6	56373386	56373386	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:56373386C>A	ENST00000361203.3	-	70	18227	c.18220G>T	c.(18220-18222)Gac>Tac	p.D6074Y	DST_ENST00000421834.2_Missense_Mutation_p.D4097Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.D5859Y|DST_ENST00000370754.5_Missense_Mutation_p.D6363Y|DST_ENST00000370769.4_Missense_Mutation_p.D6185Y|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Missense_Mutation_p.D3771Y|DST_ENST00000370788.2_Missense_Mutation_p.D3988Y			Q03001	DYST_HUMAN	dystonin	6067					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.D3771Y(1)|p.D6185Y(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTTCCAGGTCCCGGATGAAA	0.388																																							uc003pdf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(12823-12825)GAC>TAC		dystonin isoform 2							189.0	185.0	186.0					6																	56373386		1865	4109	5974	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56373386C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.18220G>T	6.37:g.56373386C>A	ENSP00000354508:p.Asp6074Tyr					DST_uc003pcz.3_Missense_Mutation_p.D4097Y|DST_uc011dxj.1_Missense_Mutation_p.D4126Y|DST_uc011dxk.1_Missense_Mutation_p.D4137Y|DST_uc003pcy.3_Missense_Mutation_p.D3771Y	p.D4275Y	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		69	12851	-	Lung NSC(77;0.103)		6183					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.12823G>T		.	.	.	.	.	.	.	.	.	.	C	17.81	3.481850	0.63849	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000537444	T;T;T;T;T;T;T	0.63580	1.26;1.26;1.26;1.26;1.26;1.26;-0.05	6.06	6.06	0.98353	.	0.106970	0.41097	D	0.000957	T	0.66877	0.2834	L	0.29908	0.895	0.33009	D	0.527254	D;D;D;D;D	0.69078	0.994;0.997;0.993;0.983;0.98	D;D;P;P;P	0.70227	0.939;0.968;0.883;0.876;0.844	T	0.68857	-0.5298	9	0.72032	D	0.01	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	4097;6185;6363;6183;3771	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	Y	3771;6363;6185;4097;5859;3988;6074;187	ENSP00000244364:D3771Y;ENSP00000359790:D6363Y;ENSP00000359805:D6185Y;ENSP00000400883:D4097Y;ENSP00000393645:D5859Y;ENSP00000359824:D3988Y;ENSP00000354508:D6074Y	ENSP00000244364:D3771Y	D	-	1	0	DST	56481345	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.066000	0.71185	2.880000	0.98712	0.650000	0.86243	GAC		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		35	105	1	0	5.71845e-15	0.005524	9.81265e-15	35	105				
COL12A1	1303	broad.mit.edu	37	6	75839938	75839938	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:75839938C>A	ENST00000322507.8	-	37	6388	c.6079G>T	c.(6079-6081)Gga>Tga	p.G2027*	COL12A1_ENST00000345356.6_Nonsense_Mutation_p.G863*|COL12A1_ENST00000483888.2_Nonsense_Mutation_p.G2027*|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.G2027*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2027	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.G2027*(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCCTTGGTCCACTGCGTGGT	0.443																																							uc003phs.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(6079-6081)GGA>TGA		collagen, type XII, alpha 1 long isoform							87.0	86.0	86.0					6																	75839938		1876	4106	5982	SO:0001587	stop_gained	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75839938C>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6079G>T	6.37:g.75839938C>A	ENSP00000325146:p.Gly2027*					COL12A1_uc003pht.2_Nonsense_Mutation_p.G863*	p.G2027*	NM_004370	NP_004361	Q99715	COCA1_HUMAN			37	6245	-			2027			Fibronectin type-III 16.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Nonsense_Mutation	SNP	ENST00000322507.8	37	c.6079G>T	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	47	13.752761	0.99761	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	.	.	.	6.02	6.02	0.97574	.	0.059461	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	.	.	.	X	2027;2027;863;2027;2027	.	ENSP00000325146:G2027X	G	-	1	0	COL12A1	75896658	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.336000	0.79245	2.865000	0.98341	0.655000	0.94253	GGA		0.443	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		15	39	1	0	6.72482e-11	0.003163	1.05945e-10	15	39				
ZNF292	23036	broad.mit.edu	37	6	87970078	87970078	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:87970078G>T	ENST00000369577.3	+	8	6774	c.6731G>T	c.(6730-6732)gGa>gTa	p.G2244V	ZNF292_ENST00000339907.4_Missense_Mutation_p.G2239V	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2244						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G2099V(1)|p.G2244V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CACGGGATTGGACTAAGGGCA	0.418																																							uc003plm.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(6730-6732)GGA>GTA		zinc finger protein 292							89.0	88.0	88.0					6																	87970078		1894	4119	6013	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87970078G>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6731G>T	6.37:g.87970078G>T	ENSP00000358590:p.Gly2244Val						p.G2244V	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6772	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2244					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.6731G>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062899	0.36373	.	.	ENSG00000188994	ENST00000369577;ENST00000339907;ENST00000496806	T;T;T	0.47528	3.22;3.23;0.84	5.63	4.65	0.58169	.	0.212180	0.49916	D	0.000136	T	0.11110	0.0271	N	0.08118	0	0.50632	D	0.999882	P	0.42827	0.791	B	0.38428	0.273	T	0.03739	-1.1008	10	0.31617	T	0.26	.	3.6828	0.08317	0.3434:0.0:0.6566:0.0	.	2244	O60281	ZN292_HUMAN	V	2244;2239;162	ENSP00000358590:G2244V;ENSP00000342847:G2239V;ENSP00000428857:G162V	ENSP00000342847:G2239V	G	+	2	0	ZNF292	88026797	1.000000	0.71417	0.955000	0.39395	0.943000	0.58893	6.041000	0.70988	2.663000	0.90544	0.591000	0.81541	GGA		0.418	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		11	63	1	0	0.000673444	0.008291	0.000783897	11	63				
MMS22L	253714	broad.mit.edu	37	6	97677061	97677061	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:97677061T>A	ENST00000275053.4	-	14	2013	c.1748A>T	c.(1747-1749)cAg>cTg	p.Q583L	MMS22L_ENST00000369251.2_Missense_Mutation_p.Q543L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	583					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.Q583L(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAGATTTTTCTGGGCATACAT	0.438																																							uc003ppb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1747-1749)CAG>CTG		hypothetical protein LOC253714							70.0	68.0	69.0					6																	97677061		2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97677061T>A		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1748A>T	6.37:g.97677061T>A	ENSP00000275053:p.Gln583Leu					C6orf167_uc011eaf.1_Missense_Mutation_p.Q543L	p.Q583L	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	14	2014	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	583					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.1748A>T	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	T	18.87	3.716298	0.68844	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.34667	1.35;1.35	5.51	5.51	0.81932	.	0.134404	0.47455	D	0.000230	T	0.29945	0.0749	L	0.51422	1.61	0.45307	D	0.9983	P;P	0.51933	0.949;0.914	P;P	0.46543	0.52;0.497	T	0.14008	-1.0488	10	0.72032	D	0.01	-6.2304	15.6238	0.76833	0.0:0.0:0.0:1.0	.	543;583	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	L	583;543	ENSP00000275053:Q583L;ENSP00000358254:Q543L	ENSP00000275053:Q583L	Q	-	2	0	MMS22L	97783782	1.000000	0.71417	0.985000	0.45067	0.548000	0.35241	4.158000	0.58150	2.100000	0.63781	0.533000	0.62120	CAG		0.438	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		10	52	0	0	0	0.008291	0	10	52				
SOBP	55084	broad.mit.edu	37	6	107955303	107955303	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:107955303G>A	ENST00000317357.5	+	6	1914	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)									p.A419T(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TCCGCACCATGCCTCCAACCC	0.692																																							uc003prx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1255-1257)GCC>ACC		sine oculis binding protein homolog							56.0	65.0	62.0					6																	107955303		1992	4152	6144	SO:0001583	missense	55084						metal ion binding	g.chr6:107955303G>A	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.1255G>A	6.37:g.107955303G>A	ENSP00000318900:p.Ala419Thr						p.A419T	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	1759	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	419			Pro-rich.			Missense_Mutation	SNP	ENST00000317357.5	37	c.1255G>A	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724383	0.68959	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.35421	1.31	5.45	5.45	0.79879	.	0.237911	0.34932	N	0.003573	T	0.24122	0.0584	L	0.38175	1.15	0.41307	D	0.987085	P	0.45827	0.867	B	0.41510	0.359	T	0.05146	-1.0903	10	0.59425	D	0.04	-13.8944	19.2866	0.94077	0.0:0.0:1.0:0.0	.	419	A7XYQ1	SOBP_HUMAN	T	419;16	ENSP00000318900:A419T	ENSP00000230065:A16T	A	+	1	0	SOBP	108061996	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.211000	0.58507	2.549000	0.85964	0.556000	0.70494	GCC		0.692	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		8	58	0	0	0	0.004482	0	8	58				
SCML4	256380	broad.mit.edu	37	6	108042097	108042097	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:108042097C>A	ENST00000369020.3	-	6	1028	c.783G>T	c.(781-783)ttG>ttT	p.L261F	SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369022.2_Missense_Mutation_p.L203F|SCML4_ENST00000369021.3_Missense_Mutation_p.L232F|SCML4_ENST00000369025.2_Missense_Mutation_p.L19F	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L232F(2)|p.L261F(2)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		AGGAGGGGTGCAAGGAGCCCC	0.622																																							uc010kdf.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(781-783)TTG>TTT		sex comb on midleg-like 4							63.0	66.0	65.0					6																	108042097		2203	4300	6503	SO:0001583	missense	256380				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:108042097C>A		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.783G>T	6.37:g.108042097C>A	ENSP00000358016:p.Leu261Phe					SCML4_uc003prz.3_Missense_Mutation_p.L203F|SCML4_uc011eam.1_Missense_Mutation_p.L261F|SCML4_uc003pry.3_Missense_Mutation_p.L19F|SCML4_uc003psa.3_Missense_Mutation_p.L232F	p.L261F	NM_198081	NP_932347	Q8N228	SCML4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)	6	1034	-		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)	261					B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	c.783G>T	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	C	7.633	0.679290	0.14907	.	.	ENSG00000146285	ENST00000369022;ENST00000369025;ENST00000369020;ENST00000369021	T;T;T	0.48201	0.89;0.89;0.82	4.33	3.45	0.39498	.	1.655890	0.03945	N	0.287453	T	0.25158	0.0611	L	0.47716	1.5	0.09310	N	1	P;P;P	0.39782	0.561;0.551;0.688	B;B;B	0.40534	0.125;0.11;0.332	T	0.20207	-1.0282	10	0.51188	T	0.08	.	4.305	0.10942	0.1808:0.6315:0.0:0.1877	.	261;261;232	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	F	203;19;261;232	ENSP00000358018:L203F;ENSP00000358016:L261F;ENSP00000358017:L232F	ENSP00000358016:L261F	L	-	3	2	SCML4	108148790	0.088000	0.21588	0.086000	0.20670	0.395000	0.30598	0.559000	0.23485	1.386000	0.46466	0.650000	0.86243	TTG		0.622	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		5	49	1	0	0.000602214	0.000602	0.000706611	5	49				
SLC22A16	85413	broad.mit.edu	37	6	110746219	110746219	+	Silent	SNP	G	G	T	rs367841451		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:110746219G>T	ENST00000368919.3	-	8	1657	c.1591C>A	c.(1591-1593)Cgg>Agg	p.R531R	SLC22A16_ENST00000330550.4_Silent_p.R497R	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	531					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)	p.R531R(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	GTTGCTAGCCGTTTCCCAAGG	0.418																																							uc003puf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1591-1593)CGG>AGG		solute carrier family 22, member 16							99.0	98.0	98.0					6																	110746219		2203	4300	6503	SO:0001819	synonymous_variant	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110746219G>T		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.1591C>A	6.37:g.110746219G>T						SLC22A16_uc003pue.2_Silent_p.R512R	p.R531R	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	8	1658	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	531					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Silent	SNP	ENST00000368919.3	37	c.1591C>A	CCDS5084.1																																																																																				0.418	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		19	74	1	0	0.000132079	0.008871	0.000163091	19	74				
HINT3	135114	broad.mit.edu	37	6	126298798	126298798	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:126298798C>T	ENST00000229633.5	+	5	722	c.525C>T	c.(523-525)caC>caT	p.H175H	RNA5SP216_ENST00000516111.1_RNA	NM_138571.4	NP_612638.3	Q9NQE9	HINT3_HUMAN	histidine triad nucleotide binding protein 3	175						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)	p.H175H(1)		endometrium(1)|large_intestine(1)|lung(1)|stomach(1)	4				UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321)		AGGCTGATCACTTGATTGAAA	0.299																																							uc003qal.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(523-525)CAC>CAT		histidine triad nucleotide binding protein 3							80.0	87.0	85.0					6																	126298798		2203	4297	6500	SO:0001819	synonymous_variant	135114					mitochondrion|nucleolus	hydrolase activity	g.chr6:126298798C>T	AK057688	CCDS5133.1	6q22.33	2007-12-04			ENSG00000111911	ENSG00000111911			18468	protein-coding gene	gene with protein product		609998				11805111	Standard	NM_138571		Approved	FLJ33126	uc003qal.4	Q9NQE9	OTTHUMG00000015514	ENST00000229633.5:c.525C>T	6.37:g.126298798C>T						HINT3_uc010keu.2_Silent_p.H66H	p.H175H	NM_138571	NP_612638	Q9NQE9	HINT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321)	5	788	+			175					B3KQ91|Q8N0Y9	Silent	SNP	ENST00000229633.5	37	c.525C>T	CCDS5133.1																																																																																				0.299	HINT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042090.1	NM_138571		10	74	0	0	0	0.006214	0	10	74				
EPB41L2	2037	broad.mit.edu	37	6	131216229	131216229	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:131216229C>A	ENST00000337057.3	-	9	1448	c.1267G>T	c.(1267-1269)Gtg>Ttg	p.V423L	EPB41L2_ENST00000392427.3_Missense_Mutation_p.V423L|EPB41L2_ENST00000527659.1_Missense_Mutation_p.V423L|EPB41L2_ENST00000530481.1_Missense_Mutation_p.V423L|EPB41L2_ENST00000525193.1_Missense_Mutation_p.V423L|EPB41L2_ENST00000525271.1_Missense_Mutation_p.V423L|EPB41L2_ENST00000528282.1_Missense_Mutation_p.V423L|EPB41L2_ENST00000527411.1_Missense_Mutation_p.V423L|EPB41L2_ENST00000368128.2_Missense_Mutation_p.V423L|EPB41L2_ENST00000529208.1_Missense_Mutation_p.V423L|EPB41L2_ENST00000445890.2_Missense_Mutation_p.V423L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	423	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.V423L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTAGCACACACGCCCAGCTTG	0.403																																							uc003qch.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1267-1269)GTG>TTG		erythrocyte membrane protein band 4.1-like 2							165.0	145.0	152.0					6																	131216229		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131216229C>A	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1267G>T	6.37:g.131216229C>A	ENSP00000338481:p.Val423Leu					EPB41L2_uc003qcg.1_Missense_Mutation_p.V423L|EPB41L2_uc011eby.1_Missense_Mutation_p.V423L|EPB41L2_uc003qci.2_Missense_Mutation_p.V423L|EPB41L2_uc010kfk.2_Missense_Mutation_p.V423L|EPB41L2_uc010kfl.1_Missense_Mutation_p.V423L	p.V423L	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	9	1449	-	Breast(56;0.0639)		423			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.1267G>T	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	C	34	5.291874	0.95546	.	.	ENSG00000079819	ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000392427;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	D;D;D;D;D;D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	5.68	5.68	0.88126	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.92522	0.7625	L	0.56199	1.76	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;0.996;0.997	D;D;D;D;D	0.83275	0.995;0.991;0.995;0.996;0.991	D	0.91769	0.5426	10	0.51188	T	0.08	.	19.7959	0.96481	0.0:1.0:0.0:0.0	.	423;423;423;423;423	E9PHY5;B4DHI8;E9PPD9;O43491;Q68DV2	.;.;.;E41L2_HUMAN;.	L	423	ENSP00000434308:V423L;ENSP00000434576:V423L;ENSP00000402041:V423L;ENSP00000338481:V423L;ENSP00000376222:V423L;ENSP00000357110:V423L;ENSP00000436348:V423L;ENSP00000432803:V423L;ENSP00000431988:V423L;ENSP00000431647:V423L;ENSP00000436641:V423L	ENSP00000338481:V423L	V	-	1	0	EPB41L2	131257922	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	7.788000	0.85771	2.689000	0.91719	0.655000	0.94253	GTG		0.403	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			9	65	1	0	0.000673444	0.008291	0.000783897	9	65				
EYA4	2070	broad.mit.edu	37	6	133849880	133849880	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:133849880G>T	ENST00000367895.5	+	20	2321	c.1857G>T	c.(1855-1857)tgG>tgT	p.W619C	EYA4_ENST00000431403.2_Missense_Mutation_p.W619C|EYA4_ENST00000531901.1_Missense_Mutation_p.W625C|EYA4_ENST00000452339.2_Missense_Mutation_p.W565C|EYA4_ENST00000355167.3_Missense_Mutation_p.W619C|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000355286.6_Missense_Mutation_p.W596C|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000525849.1_Missense_Mutation_p.W596C	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	619					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.W619C(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TGCCCTTCTGGAGGATATCCA	0.468																																					Melanoma(57;398 1237 3528 4702 7415)	Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)	2						c.(1855-1857)TGG>TGT		eyes absent 4 isoform a							303.0	279.0	287.0					6																	133849880		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133849880G>T	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.1857G>T	6.37:g.133849880G>T	ENSP00000356870:p.Trp619Cys					EYA4_uc011ecq.1_Missense_Mutation_p.W565C|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Missense_Mutation_p.W619C|EYA4_uc003qee.3_Missense_Mutation_p.W596C|EYA4_uc011ecs.1_Missense_Mutation_p.W625C|uc003qeg.1_Intron	p.W619C	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	20	2315	+	Colorectal(23;0.221)		619					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.1857G>T	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687554	0.68157	.	.	ENSG00000112319	ENST00000452339;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	D;D;D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66	6.07	6.07	0.98685	EYA (1);	0.000000	0.85682	D	0.000000	D	0.97632	0.9224	M	0.84948	2.725	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	0.999;1.0;1.0;0.999;1.0	D	0.97479	1.0046	10	0.87932	D	0	-6.5541	20.6593	0.99626	0.0:0.0:1.0:0.0	.	625;565;596;619;619	F2Z2Y1;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;EYA4_HUMAN	C	565;619;619;596;625;596;619	ENSP00000395916:W565C;ENSP00000356870:W619C;ENSP00000347294:W619C;ENSP00000347434:W596C;ENSP00000432770:W625C;ENSP00000433219:W596C;ENSP00000404558:W619C	ENSP00000347294:W619C	W	+	3	0	EYA4	133891573	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	TGG		0.468	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		23	159	1	0	3.28513e-13	0.003954	5.44541e-13	23	159				
KIAA1244	57221	broad.mit.edu	37	6	138629992	138629992	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:138629992G>T	ENST00000251691.4	+	24	4256	c.4090G>T	c.(4090-4092)Gga>Tga	p.G1364*		NM_020340.4	NP_065073.3			KIAA1244									p.G1293*(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GTTTGTCAAAGGACTGGGTAA	0.473																																							uc003qhu.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(4090-4092)GGA>TGA		brefeldin A-inhibited guanine							243.0	225.0	231.0					6																	138629992		2203	4300	6503	SO:0001587	stop_gained	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138629992G>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.4090G>T	6.37:g.138629992G>T	ENSP00000251691:p.Gly1364*						p.G1364*	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	24	4090	+	Breast(32;0.135)		1364						Nonsense_Mutation	SNP	ENST00000251691.4	37	c.4090G>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	46	12.417029	0.99666	.	.	ENSG00000112379	ENST00000251691	.	.	.	5.73	5.73	0.89815	.	0.620508	0.17621	N	0.167721	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-13.9209	19.9035	0.96999	0.0:0.0:1.0:0.0	.	.	.	.	X	1364	.	ENSP00000251691:G1364X	G	+	1	0	KIAA1244	138671685	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	2.712000	0.92718	0.650000	0.86243	GGA		0.473	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		14	145	1	0	1.05317e-09	0.00245	1.60056e-09	14	145				
GPR126	57211	broad.mit.edu	37	6	142736158	142736158	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:142736158C>G	ENST00000230173.6	+	19	3070	c.2594C>G	c.(2593-2595)aCt>aGt	p.T865S	GPR126_ENST00000367608.2_Missense_Mutation_p.T837S|GPR126_ENST00000296932.8_Missense_Mutation_p.T837S|GPR126_ENST00000367609.3_Missense_Mutation_p.T865S	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	865					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.T865S(1)|p.T836S(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AAAGTCCTCACTTTCATCAGC	0.388																																							uc010khc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2593-2595)ACT>AGT		G protein-coupled receptor 126 alpha 1							151.0	145.0	147.0					6																	142736158		1870	4113	5983	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142736158C>G	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2594C>G	6.37:g.142736158C>G	ENSP00000230173:p.Thr865Ser					GPR126_uc010khd.2_Missense_Mutation_p.T837S|GPR126_uc010khe.2_Missense_Mutation_p.T865S|GPR126_uc010khf.2_Missense_Mutation_p.T837S	p.T865S	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	19	3005	+	Breast(32;0.176)		865			Helical; Name=1; (Potential).		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.2594C>G	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632884	0.87660	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.91	5.91	0.95273	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000001	T	0.50257	0.1605	L	0.46670	1.46	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.48906	-0.8993	10	0.87932	D	0	.	20.3011	0.98612	0.0:1.0:0.0:0.0	.	837;865;837;865	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	S	865;837;837;865	ENSP00000230173:T865S;ENSP00000356580:T837S;ENSP00000296932:T837S;ENSP00000356581:T865S	ENSP00000230173:T865S	T	+	2	0	GPR126	142777851	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.487000	0.81328	2.804000	0.96469	0.650000	0.86243	ACT		0.388	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			11	54	0	0	0	0.008291	0	11	54				
UTRN	7402	broad.mit.edu	37	6	144745141	144745141	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:144745141G>T	ENST00000367545.3	+	5	332	c.332G>T	c.(331-333)gGg>gTg	p.G111V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	111	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.G111V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTGAATATAGGGGGAACTGAC	0.353																																							uc003qkt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(331-333)GGG>GTG		utrophin							130.0	142.0	138.0					6																	144745141		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144745141G>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.332G>T	6.37:g.144745141G>T	ENSP00000356515:p.Gly111Val					UTRN_uc010khq.1_Missense_Mutation_p.G111V	p.G111V	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	5	424	+		Ovarian(120;0.218)	111			CH 1.|Actin-binding.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.332G>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341545	0.81911	.	.	ENSG00000152818	ENST00000367529;ENST00000367545;ENST00000421035	D;D	0.96168	-3.93;-3.93	5.7	5.7	0.88788	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.000000	0.50627	D	0.000117	D	0.97657	0.9232	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97969	1.0342	10	0.87932	D	0	.	19.851	0.96740	0.0:0.0:1.0:0.0	.	111	P46939	UTRO_HUMAN	V	111;111;116	ENSP00000356515:G111V;ENSP00000396276:G116V	ENSP00000356499:G111V	G	+	2	0	UTRN	144786834	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	9.476000	0.97823	2.687000	0.91594	0.557000	0.71058	GGG		0.353	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			16	130	1	0	6.94344e-10	0.006122	1.05964e-09	16	130				
KATNA1	11104	broad.mit.edu	37	6	149959680	149959680	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:149959680T>C	ENST00000335647.5	-	1	48	c.4A>G	c.(4-6)Agt>Ggt	p.S2G	KATNA1_ENST00000367411.2_Missense_Mutation_p.S2G|KATNA1_ENST00000335643.8_Missense_Mutation_p.S2G					katanin p60 (ATPase containing) subunit A 1									p.S2G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		ATAAGAAGACTCATGTTCAAC	0.328																																							uc003qmr.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(4-6)AGT>GGT		katanin p60 subunit A 1							124.0	130.0	128.0					6																	149959680		2203	4300	6503	SO:0001583	missense	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149959680T>C	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.4A>G	6.37:g.149959680T>C	ENSP00000335106:p.Ser2Gly					KATNA1_uc003qms.2_Missense_Mutation_p.S2G|KATNA1_uc003qmt.2_Missense_Mutation_p.S2G|KATNA1_uc011eed.1_Missense_Mutation_p.S2G	p.S2G	NM_007044	NP_008975	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	1	49	-		Ovarian(120;0.0164)	2			Interaction with microtubule.|Interaction with KATNB1.			Missense_Mutation	SNP	ENST00000335647.5	37	c.4A>G	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.257679	0.80246	.	.	ENSG00000186625	ENST00000335647;ENST00000335643;ENST00000367411;ENST00000444282;ENST00000420200	D;D;D;D	0.96168	-3.48;-3.69;-3.48;-3.93	5.75	5.75	0.90469	.	0.075885	0.85682	D	0.000000	D	0.93400	0.7895	L	0.55481	1.735	0.58432	D	0.999998	P;P;P	0.45715	0.859;0.865;0.859	B;P;B	0.46940	0.403;0.532;0.403	D	0.92941	0.6372	9	.	.	.	.	16.1166	0.81309	0.0:0.0:0.0:1.0	.	2;2;2	A8K7S5;O75449-2;O75449	.;.;KTNA1_HUMAN	G	2	ENSP00000335106:S2G;ENSP00000335180:S2G;ENSP00000356381:S2G;ENSP00000390322:S2G	.	S	-	1	0	KATNA1	150001373	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	7.692000	0.84203	2.204000	0.70986	0.529000	0.55759	AGT		0.328	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044		19	115	0	0	0	0.007413	0	19	115				
SYNE1	23345	broad.mit.edu	37	6	152527394	152527394	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:152527394A>C	ENST00000367255.5	-	126	23529	c.22928T>G	c.(22927-22929)tTg>tGg	p.L7643W	SYNE1_ENST00000356820.4_Missense_Mutation_p.L2167W|SYNE1_ENST00000265368.4_Missense_Mutation_p.L7643W|SYNE1_ENST00000448038.1_Missense_Mutation_p.L7572W|SYNE1_ENST00000341594.5_Missense_Mutation_p.L7255W|SYNE1_ENST00000423061.1_Missense_Mutation_p.L7572W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7643					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L7643W(2)|p.L7572W(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCGGCCTGCAAGGCGGCCTC	0.507										HNSCC(10;0.0054)																													uc010kiw.2		NA																	3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(22927-22929)TTG>TGG		spectrin repeat containing, nuclear envelope 1							73.0	69.0	70.0					6																	152527394		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152527394A>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.22928T>G	6.37:g.152527394A>C	ENSP00000356224:p.Leu7643Trp	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.L2167W|SYNE1_uc003qos.3_Missense_Mutation_p.L2167W|SYNE1_uc003qot.3_Missense_Mutation_p.L7572W|SYNE1_uc003qou.3_Missense_Mutation_p.L7643W|SYNE1_uc003qor.3_Missense_Mutation_p.L543W	p.L7643W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	126	23530	-		Ovarian(120;0.0955)	7643			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.22928T>G	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	17.64	3.439137	0.63067	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06;1.06;1.06	5.51	5.51	0.81932	.	0.000000	0.44483	D	0.000454	T	0.58623	0.2135	M	0.74881	2.28	0.80722	D	1	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	0.64728	-0.6339	10	0.87932	D	0	.	15.9314	0.79663	1.0:0.0:0.0:0.0	.	7643;7643;7572;7572	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	W	7643;289;7572;7643;7572;7255;2167;565	ENSP00000356224:L7643W;ENSP00000356226:L289W;ENSP00000396024:L7572W;ENSP00000265368:L7643W;ENSP00000390975:L7572W;ENSP00000341887:L7255W;ENSP00000349276:L2167W;ENSP00000356220:L565W	ENSP00000265368:L7643W	L	-	2	0	SYNE1	152569087	1.000000	0.71417	0.964000	0.40570	0.072000	0.16883	9.257000	0.95545	2.217000	0.71921	0.482000	0.46254	TTG		0.507	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		8	40	0	0	0	0.004482	0	8	40				
SYNE1	23345	broad.mit.edu	37	6	152748945	152748945	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:152748945C>G	ENST00000367255.5	-	38	5584	c.4983G>C	c.(4981-4983)gaG>gaC	p.E1661D	SYNE1_ENST00000367253.4_Missense_Mutation_p.E1661D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1661D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1668D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1731D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1668D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1661					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.E1661D(2)|p.E1668D(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATAGTTCTTTCTCTAGCCTAA	0.418										HNSCC(10;0.0054)																													uc010kiw.2		NA																	3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(4981-4983)GAG>GAC		spectrin repeat containing, nuclear envelope 1							82.0	79.0	80.0					6																	152748945		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152748945C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4983G>C	6.37:g.152748945C>G	ENSP00000356224:p.Glu1661Asp	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E1668D|SYNE1_uc003qou.3_Missense_Mutation_p.E1661D|SYNE1_uc010kjb.1_Missense_Mutation_p.E1644D|SYNE1_uc003qow.2_Missense_Mutation_p.E956D	p.E1661D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	38	5585	-		Ovarian(120;0.0955)	1661			Spectrin 2.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4983G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	16.22	3.062253	0.55432	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.56776	1.25;1.25;1.25;1.25;0.44;0.66	5.65	3.84	0.44239	.	0.000000	0.64402	D	0.000011	T	0.55847	0.1946	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.996;0.999;1.0	P;D;P;D;D	0.85130	0.883;0.971;0.879;0.971;0.997	T	0.54984	-0.8211	10	0.24483	T	0.36	.	10.4074	0.44272	0.0:0.7906:0.0:0.2094	.	1644;1661;1661;1661;1668	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	D	1661;1668;1661;1668;1731;1661	ENSP00000356224:E1661D;ENSP00000396024:E1668D;ENSP00000265368:E1661D;ENSP00000390975:E1668D;ENSP00000341887:E1731D;ENSP00000356222:E1661D	ENSP00000265368:E1661D	E	-	3	2	SYNE1	152790638	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	0.960000	0.29253	1.523000	0.49018	0.650000	0.86243	GAG		0.418	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		19	59	0	0	0	0.008871	0	19	59				
LPA	4018	broad.mit.edu	37	6	161012107	161012107	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:161012107T>A	ENST00000316300.5	-	23	3700	c.3656A>T	c.(3655-3657)aAt>aTt	p.N1219I	LPA_ENST00000447678.1_Missense_Mutation_p.N1219I			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3727	Kringle 11. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.N1219I(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGCATCTGGATTCCTGCAGTA	0.453																																							uc003qtl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(3655-3657)AAT>ATT		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						77.0	77.0	77.0					6																	161012107		2184	4298	6482	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161012107T>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3656A>T	6.37:g.161012107T>A	ENSP00000321334:p.Asn1219Ile						p.N1219I	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	24	3776	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3727			Kringle 33.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.3656A>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	t	15.68	2.904053	0.52333	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.78924	-1.22;-1.22	2.39	2.39	0.29439	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	.	.	.	.	D	0.89636	0.6772	H	0.99169	4.455	0.25231	N	0.989829	D	0.89917	1.0	D	0.97110	1.0	T	0.80162	-0.1497	9	0.87932	D	0	.	8.2757	0.31871	0.0:0.0:0.0:1.0	.	3727	P08519	APOA_HUMAN	I	1219	ENSP00000321334:N1219I;ENSP00000395608:N1219I	ENSP00000321334:N1219I	N	-	2	0	LPA	160932097	1.000000	0.71417	0.936000	0.37596	0.883000	0.51084	5.525000	0.67110	1.085000	0.41206	0.358000	0.22013	AAT		0.453	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		3	32	0	0	0	0.000602	0	3	32				
PLG	5340	broad.mit.edu	37	6	161135904	161135904	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:161135904G>T	ENST00000308192.9	+	6	689	c.626G>T	c.(625-627)tGg>tTg	p.W209L		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	209	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.W209L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TGCCAGGCCTGGGACTCTCAG	0.473																																							uc003qtm.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(625-627)TGG>TTG		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						65.0	61.0	62.0					6																	161135904		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161135904G>T	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.626G>T	6.37:g.161135904G>T	ENSP00000308938:p.Trp209Leu						p.W209L	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	6	689	+			209			Kringle 2.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.626G>T	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	33	5.245585	0.95272	.	.	ENSG00000122194	ENST00000308192	D	0.93426	-3.22	5.77	5.77	0.91146	Kringle (4);Kringle-like fold (1);	0.000000	0.37348	U	0.002123	D	0.98720	0.9570	H	0.99890	4.9	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99577	1.0972	10	0.87932	D	0	.	18.7629	0.91860	0.0:0.0:1.0:0.0	.	209	P00747	PLMN_HUMAN	L	209	ENSP00000308938:W209L	ENSP00000308938:W209L	W	+	2	0	PLG	161055894	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.354000	0.97083	2.723000	0.93209	0.655000	0.94253	TGG		0.473	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		5	35	1	0	0.00116845	0.001168	0.00134087	5	35				
THBS2	7058	broad.mit.edu	37	6	169637732	169637732	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:169637732A>C	ENST00000366787.3	-	9	1537	c.1288T>G	c.(1288-1290)Tgt>Ggt	p.C430G	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	430	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				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.C430G(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)		CGGGTGTCACACTTGCTCAGA	0.642																																					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.(1288-1290)TGT>GGT		thrombospondin 2 precursor							82.0	76.0	78.0					6																	169637732		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169637732A>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.1288T>G	6.37:g.169637732A>C	ENSP00000355751:p.Cys430Gly						p.C430G	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)	9	1536	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	430			TSP type-1 1.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.1288T>G	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	a	17.79	3.476281	0.63737	.	.	ENSG00000186340	ENST00000366787	D	0.98762	-5.12	4.65	4.65	0.58169	.	0.000000	0.44688	U	0.000432	D	0.99432	0.9799	H	0.98802	4.335	0.58432	D	0.999997	D	0.61697	0.99	P	0.62435	0.902	D	0.98202	1.0468	10	0.87932	D	0	-23.8759	14.098	0.65037	1.0:0.0:0.0:0.0	.	430	P35442	TSP2_HUMAN	G	430	ENSP00000355751:C430G	ENSP00000355751:C430G	C	-	1	0	THBS2	169379657	1.000000	0.71417	0.209000	0.23619	0.577000	0.36160	8.704000	0.91351	1.732000	0.51606	0.451000	0.29950	TGT		0.642	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		5	45	0	0	0	0.000602	0	5	45				
C7orf26	79034	broad.mit.edu	37	7	6631427	6631427	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:6631427G>T	ENST00000344417.5	+	2	610	c.343G>T	c.(343-345)Gga>Tga	p.G115*	C7orf26_ENST00000472693.1_3'UTR|AC079742.4_ENST00000434951.1_RNA|C7orf26_ENST00000359073.5_Nonsense_Mutation_p.G96*	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	115								p.G115*(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GAGCTTGTTGGGAAAACTGGT	0.547																																							uc003sqo.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(343-345)GGA>TGA		hypothetical protein LOC79034							146.0	135.0	139.0					7																	6631427		2203	4300	6503	SO:0001587	stop_gained	79034							g.chr7:6631427G>T	BC005121	CCDS5353.1	7p22.1	2011-11-24			ENSG00000146576	ENSG00000146576			21702	protein-coding gene	gene with protein product							Standard	NM_024067		Approved	MGC2718	uc003sqo.1	Q96N11	OTTHUMG00000125517	ENST00000344417.5:c.343G>T	7.37:g.6631427G>T	ENSP00000340220:p.Gly115*					C7orf26_uc003sqp.1_Nonsense_Mutation_p.G96*|C7orf26_uc003sqq.1_5'UTR	p.G115*	NM_024067	NP_076972	Q96N11	CG026_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)	2	343	+		Ovarian(82;0.232)	115					Q9BQ43	Nonsense_Mutation	SNP	ENST00000344417.5	37	c.343G>T	CCDS5353.1	.	.	.	.	.	.	.	.	.	.	g	41	8.760775	0.98943	.	.	ENSG00000146576	ENST00000344417;ENST00000359073	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-9.2774	16.766	0.85524	0.0:0.0:1.0:0.0	.	.	.	.	X	115;96	.	ENSP00000340220:G115X	G	+	1	0	C7orf26	6597952	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.734000	0.68580	2.627000	0.88993	0.632000	0.83419	GGA		0.547	C7orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246844.2	NM_024067		29	155	1	0	2.4375e-19	0.007291	4.31431e-19	29	155				
ANKMY2	57037	broad.mit.edu	37	7	16666776	16666776	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:16666776C>A	ENST00000306999.2	-	3	403	c.160G>T	c.(160-162)Gca>Tca	p.A54S	ANKMY2_ENST00000421746.1_5'UTR	NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	54						cilium (GO:0005929)	metal ion binding (GO:0046872)	p.A54S(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCTTTATATGCTGCATGCATT	0.353																																							uc003sti.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(160-162)GCA>TCA		ankyrin repeat and MYND domain containing 2							88.0	77.0	80.0					7																	16666776		2203	4300	6503	SO:0001583	missense	57037					cilium	zinc ion binding	g.chr7:16666776C>A	AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.160G>T	7.37:g.16666776C>A	ENSP00000303570:p.Ala54Ser					ANKMY2_uc010ktz.2_RNA	p.A54S	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)	3	360	-	Lung NSC(10;0.103)|all_lung(11;0.204)		54			ANK 1.		A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	c.160G>T	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415341	0.83449	.	.	ENSG00000106524	ENST00000306999	T	0.71341	-0.56	5.51	5.51	0.81932	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.82917	0.5141	M	0.71296	2.17	0.80722	D	1	D	0.63880	0.993	D	0.63488	0.915	T	0.82713	-0.0321	10	0.48119	T	0.1	-5.0421	19.4318	0.94772	0.0:1.0:0.0:0.0	.	54	Q8IV38	ANKY2_HUMAN	S	54	ENSP00000303570:A54S	ENSP00000303570:A54S	A	-	1	0	ANKMY2	16633301	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.395000	0.79876	2.597000	0.87782	0.650000	0.86243	GCA		0.353	ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319		10	37	1	0	9.16793e-09	0.00499	1.33768e-08	10	37				
FERD3L	222894	broad.mit.edu	37	7	19184913	19184913	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:19184913G>T	ENST00000275461.3	-	1	131	c.73C>A	c.(73-75)Ccg>Acg	p.P25T	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	25					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P25T(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GGGCGTCTCGGGGAGGCCAGG	0.672																																							uc003suo.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(73-75)CCG>ACG		nephew of atonal 3							36.0	35.0	35.0					7																	19184913		2203	4300	6503	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184913G>T	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.73C>A	7.37:g.19184913G>T	ENSP00000275461:p.Pro25Thr					uc003sun.1_RNA	p.P25T	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN			1	132	-			25					Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.73C>A	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724596	0.68959	.	.	ENSG00000146618	ENST00000275461	D	0.96913	-4.17	5.66	3.85	0.44370	.	0.000000	0.56097	D	0.000021	D	0.93848	0.8032	L	0.29908	0.895	0.39754	D	0.971939	D	0.55605	0.972	P	0.50659	0.647	D	0.93240	0.6625	10	0.52906	T	0.07	-8.6488	9.1324	0.36852	0.1651:0.0:0.8349:0.0	.	25	Q96RJ6	FER3L_HUMAN	T	25	ENSP00000275461:P25T	ENSP00000275461:P25T	P	-	1	0	FERD3L	19151438	0.981000	0.34729	0.999000	0.59377	0.892000	0.51952	1.491000	0.35583	1.399000	0.46721	0.650000	0.86243	CCG		0.672	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			7	90	1	0	1.06961e-07	0.00308	1.49787e-07	7	90				
IGF2BP3	10643	broad.mit.edu	37	7	23383458	23383458	+	Missense_Mutation	SNP	G	G	T	rs149351958		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:23383458G>T	ENST00000258729.3	-	9	1312	c.956C>A	c.(955-957)aCg>aAg	p.T319K		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	319	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)	p.T319K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						ATTATACAGCGTCAATTCCTG	0.388																																							uc003swg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(955-957)ACG>AAG		insulin-like growth factor 2 mRNA binding							88.0	77.0	81.0					7																	23383458		2203	4300	6503	SO:0001583	missense	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23383458G>T	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.956C>A	7.37:g.23383458G>T	ENSP00000258729:p.Thr319Lys					IGF2BP3_uc003swf.2_Intron	p.T319K	NM_006547	NP_006538	O00425	IF2B3_HUMAN			9	1222	-			319			KH 2.		A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	ENST00000258729.3	37	c.956C>A	CCDS5382.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.869191	0.91587	.	.	ENSG00000136231	ENST00000258729	T	0.39056	1.1	5.51	5.51	0.81932	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	L	0.60455	1.87	0.80722	D	1	P	0.46952	0.887	P	0.53518	0.728	T	0.49370	-0.8947	10	0.35671	T	0.21	3.1695	19.4288	0.94756	0.0:0.0:1.0:0.0	.	319	O00425	IF2B3_HUMAN	K	319	ENSP00000258729:T319K	ENSP00000258729:T319K	T	-	2	0	IGF2BP3	23349983	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.807000	0.99171	2.590000	0.87494	0.557000	0.71058	ACG		0.388	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		27	96	1	0	1.77063e-15	0.005443	3.04549e-15	27	96				
CPVL	54504	broad.mit.edu	37	7	29111439	29111439	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:29111439G>T	ENST00000409850.1	-	13	1460	c.814C>A	c.(814-816)Cat>Aat	p.H272N	CPVL_ENST00000265394.5_Missense_Mutation_p.H272N|CPVL_ENST00000396276.3_Missense_Mutation_p.H272N			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	272						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)	p.H272N(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						ATGCATTCATGGCACTGCTTC	0.458																																							uc003szv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(814-816)CAT>AAT		serine carboxypeptidase vitellogenic-like							128.0	113.0	118.0					7																	29111439		2203	4300	6503	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29111439G>T	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.814C>A	7.37:g.29111439G>T	ENSP00000387164:p.His272Asn					CPVL_uc003szw.2_Missense_Mutation_p.H272N|CPVL_uc003szx.2_Missense_Mutation_p.H272N	p.H272N	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN			9	933	-			272					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.814C>A	CCDS5419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.465|1.465	-0.561459|-0.561459	0.03939|0.03939	.|.	.|.	ENSG00000106066|ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000455893;ENST00000409850;ENST00000542995;ENST00000448959|ENST00000432534	D;D;T;D;D|.	0.85088|.	-1.94;-1.94;1.67;-1.94;-1.94|.	5.65|5.65	-0.427|-0.427	0.12310|0.12310	.|.	0.507131|.	0.22648|.	N|.	0.057364|.	T|T	0.06962|0.06962	0.0177|0.0177	N|N	0.00403|0.00403	-1.54|-1.54	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.38457|0.38457	-0.9660|-0.9660	10|5	0.06625|.	T|.	0.88|.	-10.9027|-10.9027	6.1617|6.1617	0.20368|0.20368	0.0:0.4929:0.236:0.2711|0.0:0.4929:0.236:0.2711	.|.	272|.	Q9H3G5|.	CPVL_HUMAN|.	N|Q	272;272;28;272;156;202|8	ENSP00000265394:H272N;ENSP00000379572:H272N;ENSP00000403580:H28N;ENSP00000387164:H272N;ENSP00000409036:H202N|.	ENSP00000265394:H272N|.	H|P	-|-	1|2	0|0	CPVL|CPVL	29077964|29077964	0.004000|0.004000	0.15560|0.15560	0.000000|0.000000	0.03702|0.03702	0.316000|0.316000	0.28119|0.28119	0.916000|0.916000	0.28651|0.28651	-0.400000|-0.400000	0.07656|0.07656	-1.058000|-1.058000	0.02302|0.02302	CAT|CCA		0.458	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		55	88	1	0	2.01807e-28	0.00361	3.68802e-28	55	88				
CCDC129	223075	broad.mit.edu	37	7	31683245	31683245	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:31683245C>A	ENST00000407970.3	+	11	2299	c.2261C>A	c.(2260-2262)gCa>gAa	p.A754E	CCDC129_ENST00000451887.2_Missense_Mutation_p.A780E|CCDC129_ENST00000409210.1_Missense_Mutation_p.A662E|CCDC129_ENST00000319386.3_Missense_Mutation_p.A606E	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	754								p.A754E(1)|p.A606E(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GGGACAAAAGCAAGACAGTTA	0.502																																							uc003tcj.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2260-2262)GCA>GAA		coiled-coil domain containing 129							109.0	104.0	105.0					7																	31683245		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31683245C>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2261C>A	7.37:g.31683245C>A	ENSP00000384416:p.Ala754Glu					CCDC129_uc011kad.1_Missense_Mutation_p.A764E|CCDC129_uc003tci.1_Missense_Mutation_p.A605E|CCDC129_uc011kae.1_Missense_Mutation_p.A780E|CCDC129_uc003tck.1_Missense_Mutation_p.A662E	p.A754E	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			11	3254	+			754					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.2261C>A	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	C	7.988	0.752636	0.15778	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.18657	2.2;2.46;2.45;2.2	5.73	1.09	0.20402	.	0.695437	0.13079	N	0.415423	T	0.15176	0.0366	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.25667	0.049;0.11;0.11;0.131	B;B;B;B	0.20184	0.018;0.028;0.016;0.019	T	0.26467	-1.0102	10	0.24483	T	0.36	-0.5797	7.1565	0.25641	0.4593:0.4512:0.0:0.0895	.	780;764;754;606	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	E	606;754;780;764;662	ENSP00000313062:A606E;ENSP00000384416:A754E;ENSP00000395835:A780E;ENSP00000387214:A662E	ENSP00000313062:A606E	A	+	2	0	CCDC129	31649770	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-1.377000	0.02558	0.276000	0.22118	-0.274000	0.10170	GCA		0.502	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		8	108	1	0	0.00307968	0.00308	0.00345283	8	108				
NPSR1	387129	broad.mit.edu	37	7	34888198	34888198	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:34888198G>T	ENST00000360581.1	+	8	1076	c.948G>T	c.(946-948)caG>caT	p.Q316H	NPSR1_ENST00000359791.1_Missense_Mutation_p.Q316H|NPSR1_ENST00000531252.1_Missense_Mutation_p.Q305H|NPSR1_ENST00000381542.1_Missense_Mutation_p.Q250H|NPSR1_ENST00000381539.3_Missense_Mutation_p.Q316H	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	316						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)	p.Q316H(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGATCATTCAGAACCTGCCAG	0.493																																							uc003teg.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|pancreas(1)	4						c.(946-948)CAG>CAT		G protein-coupled receptor for asthma	Halothane(DB01159)						227.0	216.0	220.0					7																	34888198		2203	4300	6503	SO:0001583	missense	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34888198G>T	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.948G>T	7.37:g.34888198G>T	ENSP00000353788:p.Gln316His					AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Missense_Mutation_p.Q316H|NPSR1_uc010kwt.1_Missense_Mutation_p.Q163H|NPSR1_uc010kwu.1_Missense_Mutation_p.Q106H|NPSR1_uc010kwv.1_Missense_Mutation_p.Q250H|NPSR1_uc003tei.1_Missense_Mutation_p.Q316H|NPSR1_uc010kww.1_Missense_Mutation_p.Q305H|NPSR1_uc011kar.1_Missense_Mutation_p.Q250H	p.Q316H	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN			8	1076	+			316			Helical; Name=7; (Potential).		A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Missense_Mutation	SNP	ENST00000360581.1	37	c.948G>T	CCDS5444.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666150	0.67814	.	.	ENSG00000187258	ENST00000360581;ENST00000381542;ENST00000359791;ENST00000531252;ENST00000381539;ENST00000334481	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.22	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	T	0.47985	0.1475	L	0.37466	1.105	0.50171	D	0.999851	D;D;D;D;D;D	0.89917	0.998;1.0;0.998;1.0;0.999;1.0	D;D;D;D;D;D	0.87578	0.996;0.998;0.994;0.997;0.997;0.998	T	0.34054	-0.9844	10	0.44086	T	0.13	-16.5733	13.2894	0.60262	0.0874:0.0:0.9126:0.0	.	250;305;250;316;316;316	B7ZMA2;Q6W5P4-5;Q6W5P4-2;Q6W5P4-4;Q6W5P4-3;Q6W5P4	.;.;.;.;.;NPSR1_HUMAN	H	316;250;316;305;316;119	ENSP00000353788:Q316H;ENSP00000370953:Q250H;ENSP00000352839:Q316H;ENSP00000433258:Q305H;ENSP00000370950:Q316H	ENSP00000334093:Q119H	Q	+	3	2	NPSR1	34854723	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.833000	0.55790	2.713000	0.92767	0.655000	0.94253	CAG		0.493	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		111	169	1	0	2.18537e-64	0.00361	4.0649e-64	111	169				
POM121L12	285877	broad.mit.edu	37	7	53103646	53103646	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:53103646C>T	ENST00000408890.4	+	1	298	c.282C>T	c.(280-282)tcC>tcT	p.S94S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	94								p.S94S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGTGGTCTCCGAGGGCTGGA	0.701																																							uc003tpz.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(280-282)TCC>TCT		POM121 membrane glycoprotein-like 12							16.0	19.0	18.0					7																	53103646		1901	4105	6006	SO:0001819	synonymous_variant	285877							g.chr7:53103646C>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.282C>T	7.37:g.53103646C>T							p.S94S	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	298	+			94					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.282C>T	CCDS43584.1																																																																																				0.701	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		11	25	0	0	0	0.00245	0	11	25				
EGFR	1956	broad.mit.edu	37	7	55242489	55242489	+	Silent	SNP	G	G	T	rs121913463|rs397517100|rs397517099		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:55242489G>T	ENST00000275493.2	+	19	2436	c.2259G>T	c.(2257-2259)ccG>ccT	p.P753P	EGFR_ENST00000454757.2_Silent_p.P700P|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.P708P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	753	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Missing (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.S752_I759del(13)|p.T751_I759>N(8)|p.T751_I759>S(3)|p.T751_I759del(2)|p.A750_E758>P(2)|p.L747_K754del(2)|p.P753P(2)|p.E746_P753>IS(1)|p.L747_K754>ST(1)|p.A750_E758del(1)|p.T751_I759>REA(1)|p.A750_K754del(1)|p.T751_E758del(1)|p.L747_K754>N(1)|p.P753_I759del(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAACATCTCCGAAAGCCAACA	0.493		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		40	Deletion - In frame(21)|Complex - deletion inframe(17)|Substitution - coding silent(2)	p.L747_P753>S(166)|p.L747_P753del(21)|p.L747_P753>Q(19)|p.S752_I759del(15)|p.T751_I759>N(8)|p.E746_P753>VS(6)|p.P753S(4)|p.T751_I759>S(3)|p.A750_E758>P(3)|p.A750_K757del(2)|p.A750_E758del(2)|p.E746_P753del(2)|p.T751_I759>NKA(2)|p.E749_E758>QP(2)|p.T751_E758del(2)|p.L747_K754>ST(1)|p.T751_E758>A(1)|p.E746_P753>VQ(1)|p.T751_I759>REA(1)|p.L747_A755del(1)|p.P753_I759del(1)|p.P753F(1)|p.L747_A755>SKS(1)|p.L747_K754>N(1)|p.A750_K754del(1)|p.L747_K754del(1)|p.L747_K754>GC(1)|p.L747_N756>SKDD(1)|p.E749_P753>Q(1)|p.L747_P753>CG(1)|p.S752_V769del(1)|p.P753P(1)|p.R748_P753del(1)|p.E746_P753>LS(1)	lung(37)|breast(2)|oesophagus(1)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(2257-2259)CCG>CCT		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						100.0	96.0	97.0					7																	55242489		2203	4300	6503	SO:0001819	synonymous_variant	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55242489G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2259G>T	7.37:g.55242489G>T		TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc010kzg.1_Silent_p.P708P|EGFR_uc011kco.1_Silent_p.P700P	p.P753P	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		19	2505	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		753		Missing (found in a lung cancer sample).	Cytoplasmic (Potential).|Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	c.2259G>T	CCDS5514.1																																																																																				0.493	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		30	56	1	0	5.91797e-21	0.002445	1.05771e-20	30	56				
CLIP2	7461	broad.mit.edu	37	7	73811540	73811540	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:73811540C>A	ENST00000395060.1	+	13	2857	c.2857C>A	c.(2857-2859)Ctg>Atg	p.L953M	CLIP2_ENST00000361545.5_Missense_Mutation_p.L918M|CLIP2_ENST00000223398.6_Missense_Mutation_p.L953M			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	953						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)		p.L918M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CATCCGGGGCCTGCGTGAAAA	0.637																																							uc003uam.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(2857-2859)CTG>ATG		CAP-GLY domain containing linker protein 2							83.0	73.0	77.0					7																	73811540		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73811540C>A	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2857C>A	7.37:g.73811540C>A	ENSP00000378500:p.Leu953Met					CLIP2_uc003uan.2_Missense_Mutation_p.L918M	p.L953M	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			14	3184	+			953			Potential.		O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.2857C>A	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464553	0.63513	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.76709	-0.94;-1.04;-0.94	4.54	4.54	0.55810	.	0.000000	0.64402	D	0.000004	T	0.77685	0.4167	L	0.27053	0.805	0.43814	D	0.996378	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.73157	-0.4071	10	0.21014	T	0.42	-17.3723	9.6579	0.39936	0.0:0.9028:0.0:0.0972	.	918;953	Q9UDT6-2;Q9UDT6	.;CLIP2_HUMAN	M	953;953;918;953	ENSP00000223398:L953M;ENSP00000355151:L918M;ENSP00000378500:L953M	ENSP00000223398:L953M	L	+	1	2	CLIP2	73449476	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.341000	0.59335	2.081000	0.62600	0.561000	0.74099	CTG		0.637	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		8	33	1	0	0.000442599	0.006214	0.000527798	8	33				
PCLO	27445	broad.mit.edu	37	7	82785355	82785355	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:82785355C>A	ENST00000333891.9	-	2	939	c.602G>T	c.(601-603)gGa>gTa	p.G201V	PCLO_ENST00000423517.2_Missense_Mutation_p.G201V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.G201V(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCAGGTTTTCCTTGCTCCTT	0.448																																							uc003uhx.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(601-603)GGA>GTA		piccolo isoform 1							149.0	139.0	142.0					7																	82785355		1900	4109	6009	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82785355C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.602G>T	7.37:g.82785355C>A	ENSP00000334319:p.Gly201Val					PCLO_uc003uhv.2_Missense_Mutation_p.G201V	p.G201V	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	891	-			201			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.602G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395472	0.25205	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.21543	2.0;2.0	5.48	2.61	0.31194	.	.	.	.	.	T	0.13114	0.0318	N	0.24115	0.695	0.80722	D	1	B;B	0.20671	0.047;0.047	B;B	0.18263	0.021;0.021	T	0.07252	-1.0782	9	0.87932	D	0	.	6.6655	0.23039	0.1258:0.6707:0.0:0.2035	.	201;201	Q9Y6V0-5;Q9Y6V0-6	.;.	V	201	ENSP00000334319:G201V;ENSP00000388393:G201V	ENSP00000334319:G201V	G	-	2	0	PCLO	82623291	0.066000	0.20996	0.999000	0.59377	0.893000	0.52053	0.305000	0.19254	0.712000	0.32039	-0.122000	0.15005	GGA		0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	36	1	0	0.00116845	0.001168	0.00134087	6	36				
ABCB4	5244	broad.mit.edu	37	7	87074240	87074240	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:87074240A>T	ENST00000265723.4	-	10	1168	c.1057T>A	c.(1057-1059)Tgt>Agt	p.C353S	ABCB4_ENST00000359206.3_Missense_Mutation_p.C353S|ABCB4_ENST00000358400.3_Missense_Mutation_p.C353S|ABCB4_ENST00000545634.1_Missense_Mutation_p.C353S|ABCB4_ENST00000453593.1_Missense_Mutation_p.C353S	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	353	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.C353S(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GCATCAATACATGGGGCAGCC	0.353																																							uc003uiv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)|pancreas(1)	6						c.(1057-1059)TGT>AGT		ATP-binding cassette, subfamily B, member 4							67.0	64.0	65.0					7																	87074240		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87074240A>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1057T>A	7.37:g.87074240A>T	ENSP00000265723:p.Cys353Ser					ABCB4_uc003uiw.1_Missense_Mutation_p.C353S|ABCB4_uc003uix.1_Missense_Mutation_p.C353S	p.C353S	NM_018849	NP_061337	P21439	MDR3_HUMAN			10	1133	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		353			Helical; (By similarity).|ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1057T>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	a	2.933	-0.220602	0.06061	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.01	5.01	0.66863	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.183686	0.48767	D	0.000162	T	0.52338	0.1728	N	0.04373	-0.215	0.21697	N	0.99959	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.12156	0.007;0.006;0.002	T	0.35076	-0.9803	10	0.11485	T	0.65	-10.9057	8.6556	0.34062	0.7013:0.0:0.0:0.2987	.	353;353;353	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	S	353	ENSP00000352135:C353S;ENSP00000351172:C353S;ENSP00000265723:C353S;ENSP00000392983:C353S;ENSP00000437465:C353S	ENSP00000265723:C353S	C	-	1	0	ABCB4	86912176	0.005000	0.15991	0.978000	0.43139	0.992000	0.81027	1.461000	0.35255	1.886000	0.54624	0.377000	0.23210	TGT		0.353	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		6	17	0	0	0	0.001168	0	6	17				
AKAP9	10142	broad.mit.edu	37	7	91708554	91708554	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:91708554G>A	ENST00000359028.2	+	32	7368	c.7143G>A	c.(7141-7143)aaG>aaA	p.K2381K	AKAP9_ENST00000358100.2_Silent_p.K2381K|AKAP9_ENST00000356239.3_Silent_p.K2369K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2381	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.K2381K(1)|p.K2369K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGGACAGAAGACATCAATGA	0.383			T	BRAF	papillary thyroid																																		uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - coding silent(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(7105-7107)AAG>AAA		A-kinase anchor protein 9 isoform 2							100.0	97.0	98.0					7																	91708554		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91708554G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.7143G>A	7.37:g.91708554G>A						AKAP9_uc003ulf.2_Silent_p.K2361K|AKAP9_uc003uli.2_Silent_p.K1992K|AKAP9_uc003ulj.2_Silent_p.K139K	p.K2369K	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		31	7332	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2381			Potential.|Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.7107G>A																																																																																					0.383	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		12	86	0	0	0	0.00245	0	12	86				
SAMD9	54809	broad.mit.edu	37	7	92731109	92731109	+	Silent	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:92731109T>C	ENST00000379958.2	-	3	4571	c.4302A>G	c.(4300-4302)ctA>ctG	p.L1434L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1434						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)		p.L1434L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AGAGGGAAGCTAGAAAATACG	0.373																																							uc003umf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(4300-4302)CTA>CTG		sterile alpha motif domain containing 9							116.0	117.0	116.0					7																	92731109		2203	4300	6503	SO:0001819	synonymous_variant	54809					cytoplasm		g.chr7:92731109T>C	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.4302A>G	7.37:g.92731109T>C						SAMD9_uc003umg.2_Silent_p.L1434L	p.L1434L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	4558	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		1434					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Silent	SNP	ENST00000379958.2	37	c.4302A>G	CCDS34680.1																																																																																				0.373	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		24	155	0	0	0	0.00333	0	24	155				
MUC17	140453	broad.mit.edu	37	7	100676084	100676084	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:100676084C>A	ENST00000306151.4	+	3	1451	c.1387C>A	c.(1387-1389)Cca>Aca	p.P463T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	463	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.P463T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCACTCCAGTGGCCAG	0.498																																							uc003uxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(1387-1389)CCA>ACA		mucin 17 precursor							268.0	276.0	273.0					7																	100676084		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676084C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1387C>A	7.37:g.100676084C>A	ENSP00000302716:p.Pro463Thr					MUC17_uc010lho.1_RNA	p.P463T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	1440	+	Lung NSC(181;0.136)|all_lung(186;0.182)		463			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|5.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1387C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.059	-1.228826	0.01518	.	.	ENSG00000169876	ENST00000306151	T	0.03212	4.01	0.918	-1.84	0.07809	.	.	.	.	.	T	0.02012	0.0063	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.48592	-0.9022	9	0.06236	T	0.91	.	4.886	0.13703	0.6206:0.3794:0.0:0.0	.	463	Q685J3	MUC17_HUMAN	T	463	ENSP00000302716:P463T	ENSP00000302716:P463T	P	+	1	0	MUC17	100462804	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.915000	0.00091	-0.752000	0.04728	-0.735000	0.03563	CCA		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		47	229	1	0	5.73435e-26	0.00361	1.04015e-25	47	229				
MUC17	140453	broad.mit.edu	37	7	100684682	100684682	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:100684682A>T	ENST00000306151.4	+	3	10049	c.9985A>T	c.(9985-9987)Agc>Tgc	p.S3329C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3329	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S3329C(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGACGGTACTAGCATGCCAAC	0.488																																							uc003uxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9985-9987)AGC>TGC		mucin 17 precursor							280.0	291.0	287.0					7																	100684682		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684682A>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9985A>T	7.37:g.100684682A>T	ENSP00000302716:p.Ser3329Cys					MUC17_uc010lho.1_RNA	p.S3329C	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	10038	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3329			Extracellular (Potential).|54.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9985A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	7.021	0.558761	0.13436	.	.	ENSG00000169876	ENST00000306151	T	0.03663	3.85	1.12	1.12	0.20585	.	.	.	.	.	T	0.06096	0.0158	N	0.14661	0.345	0.09310	N	1	D	0.63046	0.992	D	0.70935	0.971	T	0.44065	-0.9352	9	0.46703	T	0.11	.	6.415	0.21712	1.0:0.0:0.0:0.0	.	3329	Q685J3	MUC17_HUMAN	C	3329	ENSP00000302716:S3329C	ENSP00000302716:S3329C	S	+	1	0	MUC17	100471402	0.000000	0.05858	0.014000	0.15608	0.013000	0.08279	-1.330000	0.02675	0.762000	0.33152	0.165000	0.16767	AGC		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		36	240	0	0	0	0.003755	0	36	240				
MUC17	140453	broad.mit.edu	37	7	100684721	100684721	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:100684721C>G	ENST00000306151.4	+	3	10088	c.10024C>G	c.(10024-10026)Cta>Gta	p.L3342V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3342	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.L3342V(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGCACTCCACTAACAAATAT	0.493																																							uc003uxp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(10024-10026)CTA>GTA		mucin 17 precursor							276.0	289.0	284.0					7																	100684721		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684721C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.10024C>G	7.37:g.100684721C>G	ENSP00000302716:p.Leu3342Val					MUC17_uc010lho.1_RNA	p.L3342V	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	10077	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3342			Extracellular (Potential).|54.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.10024C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	t	0.079	-1.187804	0.01620	.	.	ENSG00000169876	ENST00000306151	T	0.01981	4.52	0.824	-1.65	0.08291	.	.	.	.	.	T	0.02929	0.0087	N	0.14661	0.345	0.09310	N	1	P	0.46578	0.88	P	0.62184	0.899	T	0.33574	-0.9863	9	0.17832	T	0.49	.	3.8733	0.09045	0.0:0.3461:0.1898:0.4642	.	3342	Q685J3	MUC17_HUMAN	V	3342	ENSP00000302716:L3342V	ENSP00000302716:L3342V	L	+	1	2	MUC17	100471441	0.001000	0.12720	0.003000	0.11579	0.005000	0.04900	-5.639000	0.00108	-3.716000	0.00116	-4.671000	0.00003	CTA		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		4	305	0	0	0	0.009096	0	4	305				
ORC5	5001	broad.mit.edu	37	7	103767298	103767298	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:103767298C>A	ENST00000297431.4	-	14	1447	c.1305G>T	c.(1303-1305)ttG>ttT	p.L435F	ORC5_ENST00000545943.1_Missense_Mutation_p.L303F	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	435					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)	p.L435F(1)		kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						CTTGTTTTCACAAGAAATCAT	0.393																																							uc003vcb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1303-1305)TTG>TTT		origin recognition complex subunit 5 isoform 1							104.0	94.0	98.0					7																	103767298		2203	4299	6502	SO:0001583	missense	5001				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103767298C>A		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.1305G>T	7.37:g.103767298C>A	ENSP00000297431:p.Leu435Phe					ORC5L_uc011klp.1_Missense_Mutation_p.L303F	p.L435F	NM_002553	NP_002544	O43913	ORC5_HUMAN			14	1416	-			435					A4D0P8|O60590|O95268	Missense_Mutation	SNP	ENST00000297431.4	37	c.1305G>T	CCDS5734.1	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042784	0.36085	.	.	ENSG00000164815	ENST00000297431;ENST00000545943	T;T	0.49432	1.77;0.78	5.76	2.93	0.34026	.	0.000000	0.85682	D	0.000000	T	0.42200	0.1192	N	0.04508	-0.205	0.58432	D	0.999994	D	0.71674	0.998	D	0.78314	0.991	T	0.32903	-0.9889	10	0.33141	T	0.24	.	10.6032	0.45379	0.0:0.7943:0.0:0.2057	.	435	O43913	ORC5_HUMAN	F	435;303	ENSP00000297431:L435F;ENSP00000438018:L303F	ENSP00000297431:L435F	L	-	3	2	ORC5	103554534	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.893000	0.39758	0.331000	0.23511	-0.145000	0.13849	TTG		0.393	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553		9	39	1	0	2.17888e-05	0.006214	2.81406e-05	9	39				
MET	4233	broad.mit.edu	37	7	116339431	116339431	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:116339431G>T	ENST00000318493.6	+	2	480	c.293G>T	c.(292-294)tGt>tTt	p.C98F	MET_ENST00000436117.2_Missense_Mutation_p.C98F|MET_ENST00000397752.3_Missense_Mutation_p.C98F			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|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.C98F(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGTTTCCCATGTCAGGACTGC	0.438			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																														uc003vij.2		NA		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	papillary renal|head-neck squamous cell 		1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1)	159						c.(292-294)TGT>TTT		met proto-oncogene isoform b precursor							100.0	95.0	97.0					7																	116339431		1963	4159	6122	SO:0001583	missense	4233	Hereditary_Papillary_Renal_Carcinoma_(type_1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116339431G>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.293G>T	7.37:g.116339431G>T	ENSP00000317272:p.Cys98Phe					MET_uc010lkh.2_Missense_Mutation_p.C98F|MET_uc011knc.1_Missense_Mutation_p.C98F|MET_uc011knd.1_Missense_Mutation_p.C98F|MET_uc011kne.1_Missense_Mutation_p.C98F|MET_uc011knf.1_Missense_Mutation_p.C98F|MET_uc011kng.1_Missense_Mutation_p.C98F|MET_uc011knh.1_Missense_Mutation_p.C98F|MET_uc011kni.1_Missense_Mutation_p.C98F|MET_uc003vii.1_Missense_Mutation_p.C117F|MET_uc010lkg.2_Missense_Mutation_p.C98F|MET_uc011kmz.1_Missense_Mutation_p.C98F|MET_uc011kna.1_Missense_Mutation_p.C98F|MET_uc011knb.1_Missense_Mutation_p.C98F	p.C98F	NM_000245	NP_000236	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		2	480	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	98			Extracellular (Potential).|Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.293G>T	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.100397	0.37048	.	.	ENSG00000105976	ENST00000437703;ENST00000456159;ENST00000397752;ENST00000318493;ENST00000436117	T;T;T;T	0.04654	3.58;3.58;3.58;3.58	5.6	4.72	0.59763	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.294855	0.39210	N	0.001424	T	0.26448	0.0646	M	0.88031	2.925	0.80722	D	1	P;B;D;B;D;B;D;D;D;B;D;D;D	0.89917	0.759;0.382;1.0;0.216;0.999;0.216;0.997;0.997;0.997;0.355;0.998;0.999;0.999	P;B;D;B;D;B;D;D;D;B;D;D;D	0.91635	0.454;0.444;0.999;0.444;0.989;0.444;0.984;0.984;0.959;0.343;0.984;0.996;0.996	T	0.11690	-1.0577	10	0.87932	D	0	.	14.5857	0.68322	0.0702:0.0:0.9298:0.0	.	98;98;98;98;98;98;98;98;98;98;98;98;98	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;B5A939;B5A941;B5A940;P08581-2;B5A942;P08581;A1L467	.;.;.;.;.;.;.;.;.;.;.;MET_HUMAN;.	F	117;117;98;98;98	ENSP00000413857:C117F;ENSP00000380860:C98F;ENSP00000317272:C98F;ENSP00000410980:C98F	ENSP00000317272:C98F	C	+	2	0	MET	116126667	1.000000	0.71417	0.987000	0.45799	0.817000	0.46193	8.122000	0.89584	1.511000	0.48818	0.655000	0.94253	TGT		0.438	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			8	64	1	0	0.000157383	0.00308	0.000192065	8	64				
ASZ1	136991	broad.mit.edu	37	7	117024854	117024854	+	Missense_Mutation	SNP	C	C	T	rs534630019		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:117024854C>T	ENST00000284629.2	-	6	675	c.613G>A	c.(613-615)Gga>Aga	p.G205R		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1									p.G205R(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TTATTAGCTCCAAGTTCAAGC	0.363													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16952	0.0		0.0	False		,,,				2504	0.0						uc003vjb.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(613-615)GGA>AGA		ankyrin repeat, SAM and basic leucine zipper							155.0	139.0	145.0					7																	117024854		2203	4300	6503	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117024854C>T	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.613G>A	7.37:g.117024854C>T	ENSP00000284629:p.Gly205Arg					ASZ1_uc011kno.1_Missense_Mutation_p.G205R|ASZ1_uc011knp.1_5'UTR	p.G205R	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		6	676	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		205			ANK 5.			Missense_Mutation	SNP	ENST00000284629.2	37	c.613G>A	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716035	0.89205	.	.	ENSG00000154438	ENST00000284629	T	0.80033	-1.33	5.81	5.81	0.92471	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.89908	0.6851	M	0.75150	2.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90314	0.4339	10	0.87932	D	0	-15.8532	18.8336	0.92151	0.0:1.0:0.0:0.0	.	205;205	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	R	205	ENSP00000284629:G205R	ENSP00000284629:G205R	G	-	1	0	ASZ1	116812090	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.362000	0.66098	2.750000	0.94351	0.655000	0.94253	GGA		0.363	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		28	72	0	0	0	0.004656	0	28	72				
CPED1	79974	broad.mit.edu	37	7	120906829	120906829	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:120906829A>G	ENST00000310396.5	+	20	3067	c.2600A>G	c.(2599-2601)aAt>aGt	p.N867S		NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	867						endoplasmic reticulum (GO:0005783)		p.N867S(1)									CTTAATTCCAATCACCTGCAA	0.363																																							uc003vjq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9						c.(2599-2601)AAT>AGT		hypothetical protein LOC79974 isoform 1							171.0	153.0	159.0					7																	120906829		2203	4300	6503	SO:0001583	missense	79974					endoplasmic reticulum		g.chr7:120906829A>G		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.2600A>G	7.37:g.120906829A>G	ENSP00000309772:p.Asn867Ser						p.N867S	NM_024913	NP_079189	A4D0V7	CG058_HUMAN			20	3047	+	all_neural(327;0.117)		867					A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.2600A>G	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	A	17.71	3.456328	0.63401	.	.	ENSG00000106034	ENST00000310396	T	0.17370	2.28	5.84	5.84	0.93424	.	0.158091	0.56097	D	0.000040	T	0.22044	0.0531	L	0.57536	1.79	0.80722	D	1	P	0.38745	0.645	B	0.37888	0.26	T	0.01188	-1.1424	10	0.51188	T	0.08	.	16.2163	0.82224	1.0:0.0:0.0:0.0	.	867	A4D0V7	CG058_HUMAN	S	867	ENSP00000309772:N867S	ENSP00000309772:N867S	N	+	2	0	C7orf58	120694065	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.372000	0.90127	2.235000	0.73313	0.459000	0.35465	AAT		0.363	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		16	117	0	0	0	0.008871	0	16	117				
HYAL4	23553	broad.mit.edu	37	7	123516883	123516883	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:123516883G>A	ENST00000223026.4	+	5	1758	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	HYAL4_ENST00000476325.1_Missense_Mutation_p.E374K	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	374					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)	p.E374K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CAGAGCTGCTGAGGTATGCAG	0.468																																							uc003vlc.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1120-1122)GAG>AAG		hyaluronoglucosaminidase 4							148.0	138.0	141.0					7																	123516883		2203	4300	6503	SO:0001583	missense	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123516883G>A	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.1120G>A	7.37:g.123516883G>A	ENSP00000223026:p.Glu374Lys					HYAL4_uc011knz.1_3'UTR	p.E374K	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN			5	1758	+			374			Extracellular (Potential).		D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	c.1120G>A	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268900	0.23221	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.17054	2.3;2.3	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.15176	0.0366	N	0.17564	0.495	0.42134	D	0.991483	D	0.57899	0.981	P	0.54210	0.745	T	0.02736	-1.1117	10	0.02654	T	1	-23.9921	12.9474	0.58379	0.0747:0.0:0.9253:0.0	.	374	Q2M3T9	HYAL4_HUMAN	K	374	ENSP00000223026:E374K;ENSP00000417186:E374K	ENSP00000223026:E374K	E	+	1	0	HYAL4	123304119	1.000000	0.71417	0.148000	0.22405	0.033000	0.12548	3.840000	0.55843	2.822000	0.97130	0.650000	0.86243	GAG		0.468	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		14	106	0	0	0	0.004007	0	14	106				
GRM8	2918	broad.mit.edu	37	7	126746619	126746619	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:126746619T>A	ENST00000339582.2	-	3	1466	c.658A>T	c.(658-660)Aca>Tca	p.T220S	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.T220S|GRM8_ENST00000444921.2_Missense_Mutation_p.T220S|GRM8_ENST00000358373.3_Missense_Mutation_p.T220S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	220					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.T220S(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GAAGCCAGTGTCGAAACATAA	0.493										HNSCC(24;0.065)																													uc003vlr.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(658-660)ACA>TCA		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						138.0	119.0	126.0					7																	126746619		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126746619T>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.658A>T	7.37:g.126746619T>A	ENSP00000344173:p.Thr220Ser	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.T220S|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_5'UTR	p.T220S	NM_000845	NP_000836	O00222	GRM8_HUMAN			2	969	-		Prostate(267;0.186)	220			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.658A>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938037	0.73557	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830;ENST00000465844	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.11	5.11	0.69529	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91147	0.7212	M	0.93763	3.455	0.58432	D	0.999996	P;P	0.48162	0.906;0.866	B;P	0.53809	0.416;0.735	D	0.93193	0.6585	10	0.72032	D	0.01	.	14.1254	0.65217	0.0:0.0:0.0:1.0	.	220;220	O00222-2;O00222	.;GRM8_HUMAN	S	220;220;220;220;220;30	ENSP00000344173:T220S;ENSP00000409790:T220S;ENSP00000351142:T220S;ENSP00000385731:T220S;ENSP00000415522:T220S;ENSP00000418255:T30S	ENSP00000344173:T220S	T	-	1	0	GRM8	126533855	1.000000	0.71417	0.429000	0.26710	0.539000	0.34962	8.040000	0.89188	1.935000	0.56089	0.460000	0.39030	ACA		0.493	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			4	44	0	0	0	0.000602	0	4	44				
FAM180A	389558	broad.mit.edu	37	7	135418761	135418761	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:135418761C>T	ENST00000338588.3	-	3	749	c.484G>A	c.(484-486)Gac>Aac	p.D162N	FAM180A_ENST00000415751.1_Missense_Mutation_p.D162N|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	162						extracellular region (GO:0005576)		p.D162N(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						CGCATCAAGTCGTGCCTCAGG	0.612																																							uc003vtd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(484-486)GAC>AAC		hypothetical protein LOC389558 precursor							74.0	64.0	67.0					7																	135418761		2203	4300	6503	SO:0001583	missense	389558					extracellular region		g.chr7:135418761C>T	AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.484G>A	7.37:g.135418761C>T	ENSP00000342336:p.Asp162Asn					FAM180A_uc010lmt.2_RNA|FAM180A_uc010lmu.2_Missense_Mutation_p.D162N	p.D162N	NM_205855	NP_995327	Q6UWF9	F180A_HUMAN			3	750	-			162					B2RP85	Missense_Mutation	SNP	ENST00000338588.3	37	c.484G>A	CCDS5841.1	.	.	.	.	.	.	.	.	.	.	C	35	5.464585	0.96257	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.56103	0.48;0.48	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.72590	0.3479	M	0.72894	2.215	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.74805	-0.3540	10	0.87932	D	0	-1.9981	17.225	0.86967	0.0:1.0:0.0:0.0	.	162	Q6UWF9	F180A_HUMAN	N	162	ENSP00000342336:D162N;ENSP00000395467:D162N	ENSP00000342336:D162N	D	-	1	0	FAM180A	135069301	1.000000	0.71417	0.946000	0.38457	0.980000	0.70556	6.518000	0.73764	2.677000	0.91161	0.561000	0.74099	GAC		0.612	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340554.2	NM_205855		3	22	0	0	0	0.004672	0	3	22				
CHRM2	1129	broad.mit.edu	37	7	136700873	136700873	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:136700873G>T	ENST00000445907.2	+	3	1789	c.1261G>T	c.(1261-1263)Gtg>Ttg	p.V421L	CHRM2_ENST00000402486.3_Missense_Mutation_p.V421L|CHRM2_ENST00000453373.1_Missense_Mutation_p.V421L|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.V421L|CHRM2_ENST00000320658.5_Missense_Mutation_p.V421L|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.V421L|hsa-mir-490_ENST00000586239.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	421					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)	p.V421L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCCCAACACTGTGTGGACAAT	0.453																																							uc003vtf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1261-1263)GTG>TTG		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						269.0	219.0	236.0					7																	136700873		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700873G>T		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1261G>T	7.37:g.136700873G>T	ENSP00000399745:p.Val421Leu					CHRM2_uc003vtg.1_Missense_Mutation_p.V421L|CHRM2_uc003vtj.1_Missense_Mutation_p.V421L|CHRM2_uc003vtk.1_Missense_Mutation_p.V421L|CHRM2_uc003vtl.1_Missense_Mutation_p.V421L|CHRM2_uc003vtm.1_Missense_Mutation_p.V421L|CHRM2_uc003vti.1_Missense_Mutation_p.V421L|CHRM2_uc003vto.1_Missense_Mutation_p.V421L|CHRM2_uc003vtn.1_Missense_Mutation_p.V421L|uc003vtp.1_Intron	p.V421L	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1884	+			421			Extracellular (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.1261G>T	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	3.551	-0.091749	0.07053	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.81	5.81	0.92471	GPCR, rhodopsin-like superfamily (1);	0.059378	0.64402	D	0.000003	T	0.23492	0.0568	N	0.13003	0.285	0.80722	D	1	B	0.11235	0.004	B	0.18871	0.023	T	0.13308	-1.0514	10	0.02654	T	1	-4.9054	20.0912	0.97820	0.0:0.0:1.0:0.0	.	421	P08172	ACM2_HUMAN	L	421	ENSP00000399745:V421L;ENSP00000415386:V421L;ENSP00000319984:V421L;ENSP00000380733:V421L;ENSP00000384937:V421L;ENSP00000384401:V421L	ENSP00000319984:V421L	V	+	1	0	CHRM2	136351413	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	6.481000	0.73608	2.746000	0.94184	0.591000	0.81541	GTG		0.453	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			40	133	1	0	7.66079e-34	0.002522	1.40704e-33	40	133				
PRSS1	5644	broad.mit.edu	37	7	142459766	142459766	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:142459766C>A	ENST00000311737.7	+	3	348	c.342C>A	c.(340-342)tcC>tcA	p.S114S	PRSS1_ENST00000486171.1_Silent_p.S128S	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	114	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.S114S(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TCAAGCTCTCCTCACGTGCAG	0.557																																							uc003wak.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(340-342)TCC>TCA		protease, serine, 1 preproprotein							227.0	207.0	214.0					7																	142459766		2203	4300	6503	SO:0001819	synonymous_variant	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459766C>A	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.342C>A	7.37:g.142459766C>A						uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.S54S	p.S114S	NM_002769	NP_002760	P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		3	359	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	114			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	c.342C>A	CCDS5872.1																																																																																				0.557	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			19	127	1	0	1.15919e-05	0.008871	1.51586e-05	19	127				
EPHB6	2051	broad.mit.edu	37	7	142564038	142564038	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:142564038G>T	ENST00000392957.2	+	9	2213	c.1426G>T	c.(1426-1428)Gct>Tct	p.A476S	EPHB6_ENST00000442129.1_Missense_Mutation_p.A476S|EPHB6_ENST00000411471.2_Missense_Mutation_p.A199S	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	476	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.A461S(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCCTCCTCAGGCTGCAGCCAT	0.592																																							uc011kst.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(1426-1428)GCT>TCT		ephrin receptor EphB6 precursor							44.0	46.0	45.0					7																	142564038		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142564038G>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1426G>T	7.37:g.142564038G>T	ENSP00000376684:p.Ala476Ser					EPHB6_uc011ksu.1_Missense_Mutation_p.A476S|EPHB6_uc003wbs.2_Missense_Mutation_p.A184S|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_Missense_Mutation_p.A184S|EPHB6_uc003wbv.2_5'Flank	p.A476S	NM_004445	NP_004436	O15197	EPHB6_HUMAN			9	2213	+	Melanoma(164;0.059)		476			Extracellular (Potential).|Fibronectin type-III 1.		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.1426G>T	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	11.71	1.720552	0.30503	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.36699	1.24;1.24;1.24	5.48	3.29	0.37713	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.138974	0.33401	N	0.004950	T	0.18551	0.0445	N	0.25485	0.75	0.09310	N	0.999996	P	0.40578	0.722	B	0.30316	0.114	T	0.11743	-1.0575	10	0.38643	T	0.18	.	7.2335	0.26057	0.0878:0.0:0.5074:0.4047	.	476	O15197	EPHB6_HUMAN	S	476;476;199	ENSP00000376684:A476S;ENSP00000410789:A476S;ENSP00000409061:A199S	ENSP00000376684:A476S	A	+	1	0	EPHB6	142274160	0.368000	0.25031	1.000000	0.80357	0.985000	0.73830	3.152000	0.50677	1.265000	0.44215	0.561000	0.74099	GCT		0.592	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			4	25	1	0	2.56e-06	0.009096	3.46548e-06	4	25				
TAS2R41	259287	broad.mit.edu	37	7	143175790	143175790	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:143175790C>A	ENST00000408916.1	+	1	825	c.825C>A	c.(823-825)tgC>tgA	p.C275*	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	275					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C275*(1)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TCTACCTGTGCATATCTGTCC	0.488																																							uc003wdc.1		NA																	1	Substitution - Nonsense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(823-825)TGC>TGA		taste receptor, type 2, member 41							152.0	144.0	147.0					7																	143175790		2080	4216	6296	SO:0001587	stop_gained	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175790C>A	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.825C>A	7.37:g.143175790C>A	ENSP00000386201:p.Cys275*					uc003wda.2_Intron	p.C275*	NM_176883	NP_795364	P59536	T2R41_HUMAN			1	825	+	Melanoma(164;0.15)		275			Helical; Name=7; (Potential).		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Nonsense_Mutation	SNP	ENST00000408916.1	37	c.825C>A	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	C	9.480	1.097958	0.20552	.	.	ENSG00000221855	ENST00000408916	.	.	.	6.0	0.874	0.19124	.	1.069190	0.07338	U	0.880259	.	.	.	.	.	.	0.52099	D	0.999947	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	1.6924	0.02855	0.1315:0.4399:0.1278:0.3009	.	.	.	.	X	275	.	ENSP00000386201:C275X	C	+	3	2	TAS2R41	142885912	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.480000	0.06559	0.444000	0.26612	-0.137000	0.14449	TGC		0.488	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			4	70	1	0	0.000602214	0.000602	0.000706611	4	70				
OR2A5	393046	broad.mit.edu	37	7	143748389	143748389	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:143748389G>C	ENST00000408906.2	+	1	929	c.895G>C	c.(895-897)Ggt>Cgt	p.G299R		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G299R(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					AGAGGTCAAGGGTGCCCTGAA	0.498																																							uc011ktw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(895-897)GGT>CGT		olfactory receptor, family 2, subfamily A,							105.0	105.0	105.0					7																	143748389		1959	4163	6122	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748389G>C	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.895G>C	7.37:g.143748389G>C	ENSP00000386208:p.Gly299Arg						p.G299R	NM_012365	NP_036497	Q96R48	OR2A5_HUMAN			1	895	+	Melanoma(164;0.0783)		299			Cytoplasmic (Potential).		B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.895G>C	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	G	4.409	0.075537	0.08485	.	.	ENSG00000221836	ENST00000408906	T	0.34472	1.36	5.37	5.37	0.77165	.	0.000000	0.32608	U	0.005869	T	0.27241	0.0668	L	0.28274	0.84	0.09310	N	1	B	0.19445	0.036	B	0.23018	0.043	T	0.16988	-1.0384	10	0.56958	D	0.05	.	11.5247	0.50573	0.0:0.0:0.8216:0.1784	.	299	Q96R48	OR2A5_HUMAN	R	299	ENSP00000386208:G299R	ENSP00000386208:G299R	G	+	1	0	OR2A5	143379322	0.006000	0.16342	0.983000	0.44433	0.231000	0.25187	0.919000	0.28692	2.797000	0.96272	0.650000	0.86243	GGT		0.498	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			7	67	0	0	0	0.00308	0	7	67				
CNTNAP2	26047	broad.mit.edu	37	7	146997243	146997243	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:146997243G>C	ENST00000361727.3	+	9	1875	c.1359G>C	c.(1357-1359)ttG>ttC	p.L453F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	453	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.L453F(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)			GTTCTGGGTTGAATGATGGAC	0.378										HNSCC(39;0.1)																													uc003weu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1357-1359)TTG>TTC		cell recognition molecule Caspr2 precursor							138.0	127.0	131.0					7																	146997243		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.chr7:146997243G>C	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.1359G>C	7.37:g.146997243G>C	ENSP00000354778:p.Leu453Phe	HNSCC(39;0.1)					p.L453F	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		9	1875	+	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)	453			Extracellular (Potential).|Laminin G-like 2.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1359G>C	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332426	0.60853	.	.	ENSG00000174469	ENST00000361727	D	0.81659	-1.52	5.95	4.13	0.48395	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.105638	0.35615	N	0.003099	D	0.82926	0.5143	L	0.60067	1.865	0.80722	D	1	D	0.61080	0.989	D	0.64410	0.925	T	0.81444	-0.0930	10	0.42905	T	0.14	.	3.7191	0.08449	0.1475:0.1286:0.5913:0.1325	.	453	Q9UHC6	CNTP2_HUMAN	F	453	ENSP00000354778:L453F	ENSP00000354778:L453F	L	+	3	2	CNTNAP2	146628176	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.323000	0.19593	1.523000	0.49018	0.563000	0.77884	TTG		0.378	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			9	95	0	0	0	0.008291	0	9	95				
CUL1	8454	broad.mit.edu	37	7	148484115	148484115	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:148484115T>G	ENST00000325222.4	+	13	1661	c.1382T>G	c.(1381-1383)gTa>gGa	p.V461G	CUL1_ENST00000602748.1_Missense_Mutation_p.V461G|CUL1_ENST00000409469.1_Missense_Mutation_p.V461G	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	461					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)		p.V461G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GACAAAGACGTATTTCAGAAG	0.488																																							uc010lpg.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1381-1383)GTA>GGA		cullin 1							131.0	123.0	126.0					7																	148484115		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148484115T>G	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1382T>G	7.37:g.148484115T>G	ENSP00000326804:p.Val461Gly					CUL1_uc003wey.2_Missense_Mutation_p.V461G|CUL1_uc003wez.2_Missense_Mutation_p.V351G|CUL1_uc003wfa.2_Missense_Mutation_p.V122G	p.V461G	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		13	1908	+	Melanoma(164;0.15)		461					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.1382T>G	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	T	28.1	4.888572	0.91814	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.77750	-1.12;-1.12	5.57	5.57	0.84162	Cullin, N-terminal (1);Cullin homology (3);	0.057047	0.64402	D	0.000001	D	0.92126	0.7504	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94667	0.7853	10	0.87932	D	0	-29.3132	15.742	0.77905	0.0:0.0:0.0:1.0	.	388;461	E7EWR0;Q13616	.;CUL1_HUMAN	G	461;461;419;388	ENSP00000387160:V461G;ENSP00000326804:V461G	ENSP00000326804:V461G	V	+	2	0	CUL1	148115048	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.722000	0.84778	2.126000	0.65437	0.533000	0.62120	GTA		0.488	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		13	87	0	0	0	0.001368	0	13	87				
SSPO	23145	broad.mit.edu	37	7	149483226	149483226	+	RNA	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:149483226C>A	ENST00000378016.2	+	0	3294							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)	p.Y348*(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAAGGTCTACACAGGCCCTG	0.657																																							uc010lpk.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(3292-3294)TAC>TAA		SCO-spondin precursor							39.0	46.0	44.0					7																	149483226		2112	4231	6343			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149483226C>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149483226C>A						SSPO_uc010lpl.1_Nonsense_Mutation_p.Y348*	p.Y1098*	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		23	3294	+	Melanoma(164;0.165)|Ovarian(565;0.177)		1098			VWFD 3.		Q76B61	Nonsense_Mutation	SNP	ENST00000378016.2	37	c.3294C>A																																																																																					0.657	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				3	15	1	0	0.00024832	0.009096	0.000299541	3	15				
PPP1R3B	79660	broad.mit.edu	37	8	8998956	8998956	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:8998956T>C	ENST00000310455.3	-	2	356	c.206A>G	c.(205-207)cAg>cGg	p.Q69R	RP11-10A14.3_ENST00000522057.1_RNA|PPP1R3B_ENST00000519699.1_Missense_Mutation_p.Q69R|RP11-10A14.3_ENST00000520017.1_RNA	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	69					glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase regulator activity (GO:0019888)	p.Q69R(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GGCCAGCCCCTGGTTGTCTGC	0.527																																							uc003wsn.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(205-207)CAG>CGG		protein phosphatase 1, regulatory (inhibitor)							109.0	105.0	106.0					8																	8998956		2203	4300	6503	SO:0001583	missense	79660				glycogen metabolic process			g.chr8:8998956T>C	AK024067	CCDS5973.1	8p23.1	2012-04-17	2011-10-04		ENSG00000173281	ENSG00000173281		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14942	protein-coding gene	gene with protein product	"""PP1 subunit R4"", ""hepatic glycogen-targeting subunit, G(L)"""	610541	"""protein phosphatase 1, regulatory (inhibitor) subunit 3B"""			11948623, 17555403	Standard	NM_024607		Approved	GL, FLJ14005, PPP1R4	uc003wsn.4	Q86XI6	OTTHUMG00000129329	ENST00000310455.3:c.206A>G	8.37:g.8998956T>C	ENSP00000308318:p.Gln69Arg					PPP1R3B_uc003wso.3_Missense_Mutation_p.Q68R	p.Q69R	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN		COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)	2	371	-			69					B3KTV3|Q9H812	Missense_Mutation	SNP	ENST00000310455.3	37	c.206A>G	CCDS5973.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.012507	0.54468	.	.	ENSG00000173281	ENST00000310455;ENST00000519699	T;T	0.39592	1.07;1.07	5.68	4.55	0.56014	.	0.107759	0.64402	D	0.000015	T	0.14056	0.0340	N	0.02181	-0.65	0.32016	N	0.601466	B	0.02656	0.0	B	0.01281	0.0	T	0.10154	-1.0642	10	0.21014	T	0.42	-20.1299	3.5906	0.07987	0.0:0.2901:0.0:0.7099	.	69	Q86XI6	PPR3B_HUMAN	R	69	ENSP00000308318:Q69R;ENSP00000428642:Q69R	ENSP00000308318:Q69R	Q	-	2	0	PPP1R3B	9036366	0.939000	0.31865	0.999000	0.59377	0.985000	0.73830	1.557000	0.36299	2.163000	0.67991	0.459000	0.35465	CAG		0.527	PPP1R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251472.1	NM_024607		9	60	0	0	0	0.008291	0	9	60				
RP1L1	94137	broad.mit.edu	37	8	10465553	10465553	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:10465553C>A	ENST00000382483.3	-	4	6278	c.6055G>T	c.(6055-6057)Gag>Tag	p.E2019*		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2099	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				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.E2019*(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)		CCGTCTGACTCTGGCTGGGCC	0.612																																							uc003wtc.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(6055-6057)GAG>TAG		retinitis pigmentosa 1-like 1							174.0	194.0	187.0					8																	10465553		2078	4196	6274	SO:0001587	stop_gained	94137				intracellular signal transduction			g.chr8:10465553C>A	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.6055G>T	8.37:g.10465553C>A	ENSP00000371923:p.Glu2019*						p.E2019*	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6284	-			2019					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Nonsense_Mutation	SNP	ENST00000382483.3	37	c.6055G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	43	10.252532	0.99369	.	.	ENSG00000183638	ENST00000382483	.	.	.	1.36	1.36	0.22044	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	4.3114	0.10972	0.0:0.5964:0.2357:0.1679	.	.	.	.	X	2019	.	ENSP00000371923:E2019X	E	-	1	0	RP1L1	10502963	0.000000	0.05858	0.033000	0.17914	0.020000	0.10135	0.080000	0.14802	0.647000	0.30713	0.478000	0.44815	GAG		0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			26	151	1	0	3.28513e-13	0.003954	5.44541e-13	26	151				
GATA4	2626	broad.mit.edu	37	8	11606472	11606472	+	Missense_Mutation	SNP	G	G	T	rs398122402		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:11606472G>T	ENST00000335135.4	+	3	1219	c.661G>T	c.(661-663)Ggg>Tgg	p.G221W	GATA4_ENST00000532059.1_Missense_Mutation_p.G222W|GATA4_ENST00000528712.1_Missense_Mutation_p.G15W	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	221			G -> R (in TACHD; impairs the ability to bind and transactivate the promoter of AMH gene. Abolishes interaction with ZFPM2). {ECO:0000269|PubMed:21220346}.		atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G221W(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TGTCAACTGTGGGGCTATGTC	0.522																																							uc003wuc.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(661-663)GGG>TGG		GATA binding protein 4							139.0	133.0	135.0					8																	11606472		2203	4300	6503	SO:0001583	missense	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11606472G>T	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.661G>T	8.37:g.11606472G>T	ENSP00000334458:p.Gly221Trp					GATA4_uc003wub.1_Missense_Mutation_p.G15W|GATA4_uc011kxc.1_Missense_Mutation_p.G222W	p.G221W	NM_002052	NP_002043	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	3	1215	+	all_epithelial(15;0.0839)		221			GATA-type 1.		B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Missense_Mutation	SNP	ENST00000335135.4	37	c.661G>T	CCDS5983.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992077	0.93167	.	.	ENSG00000136574	ENST00000528712;ENST00000526716;ENST00000335135;ENST00000259090;ENST00000532059	D;D;D;D	0.99695	-6.43;-6.43;-6.43;-6.43	5.61	5.61	0.85477	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);	0.000000	0.64402	D	0.000001	D	0.99837	0.9926	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97017	0.9740	10	0.87932	D	0	-0.0035	18.9896	0.92786	0.0:0.0:1.0:0.0	.	222;221	B7ZKZ4;P43694	.;GATA4_HUMAN	W	15;15;221;220;222	ENSP00000435043:G15W;ENSP00000435347:G15W;ENSP00000334458:G221W;ENSP00000435712:G222W	ENSP00000259090:G220W	G	+	1	0	GATA4	11643881	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.515000	0.98015	2.793000	0.96121	0.655000	0.94253	GGG		0.522	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		16	55	1	0	3.41278e-10	0.00499	5.2743e-10	16	55				
ADAM28	10863	broad.mit.edu	37	8	24168942	24168942	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:24168942G>C	ENST00000265769.4	+	5	485	c.375G>C	c.(373-375)agG>agC	p.R125S	RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.R125S|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	125					spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R125S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCACATGTAGGGGTCTAAGGT	0.348																																					NSCLC(193;488 2149 22258 34798 40734)	NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|lung(1)|central_nervous_system(1)	5						c.(373-375)AGG>AGC		ADAM metallopeptidase domain 28 isoform 1							116.0	115.0	115.0					8																	24168942		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24168942G>C	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.375G>C	8.37:g.24168942G>C	ENSP00000265769:p.Arg125Ser					ADAM28_uc003xdx.2_Missense_Mutation_p.R125S|ADAM28_uc011kzz.1_5'UTR|ADAM28_uc011laa.1_RNA	p.R125S	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	5	458	+		Prostate(55;0.0959)	125					B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.375G>C	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857245	0.32791	.	.	ENSG00000042980	ENST00000265769;ENST00000437154	T;T	0.04917	3.53;3.53	4.96	-3.3	0.05003	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.01523	0.0049	N	0.03224	-0.385	0.54753	D	0.999987	P;B	0.38280	0.625;0.05	B;B	0.34931	0.192;0.022	T	0.48768	-0.9006	9	0.02654	T	1	.	1.0402	0.01557	0.3542:0.2715:0.2362:0.1381	.	125;125	Q9UKQ2;Q9UKQ2-2	ADA28_HUMAN;.	S	125	ENSP00000265769:R125S;ENSP00000393699:R125S	ENSP00000265769:R125S	R	+	3	2	ADAM28	24224887	0.282000	0.24268	0.410000	0.26471	0.859000	0.49053	-0.380000	0.07427	-0.429000	0.07329	-1.075000	0.02238	AGG		0.348	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		5	37	0	0	0	0.001168	0	5	37				
TEX15	56154	broad.mit.edu	37	8	30701025	30701025	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:30701025T>C	ENST00000256246.2	-	1	5583	c.5509A>G	c.(5509-5511)Aat>Gat	p.N1837D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1837					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.N1837D(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CCACATACATTGATCAACTTT	0.338																																							uc003xil.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(5509-5511)AAT>GAT		testis expressed 15							79.0	82.0	81.0					8																	30701025		2202	4298	6500	SO:0001583	missense	56154							g.chr8:30701025T>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5509A>G	8.37:g.30701025T>C	ENSP00000256246:p.Asn1837Asp						p.N1837D	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	5509	-			1837						Missense_Mutation	SNP	ENST00000256246.2	37	c.5509A>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.627549	0.00813	.	.	ENSG00000133863	ENST00000256246	T	0.09445	2.98	5.68	-1.25	0.09405	.	0.547984	0.18011	N	0.154550	T	0.04048	0.0113	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31696	-0.9934	10	0.87932	D	0	.	2.2124	0.03951	0.117:0.2895:0.1203:0.4732	.	1837	Q9BXT5	TEX15_HUMAN	D	1837	ENSP00000256246:N1837D	ENSP00000256246:N1837D	N	-	1	0	TEX15	30820567	0.077000	0.21312	0.004000	0.12327	0.151000	0.21798	0.244000	0.18124	-0.119000	0.11830	0.528000	0.53228	AAT		0.338	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			16	64	0	0	0	0.007413	0	16	64				
DDHD2	23259	broad.mit.edu	37	8	38110569	38110569	+	Silent	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:38110569A>G	ENST00000397166.2	+	15	2340	c.1815A>G	c.(1813-1815)ccA>ccG	p.P605P	DDHD2_ENST00000517385.1_Silent_p.P224P|DDHD2_ENST00000529845.1_Silent_p.P56P|DDHD2_ENST00000520272.2_Silent_p.P605P	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	605	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.P605P(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			CCAGAGCTCCATACCCTGCCT	0.473																																							uc003xlb.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1813-1815)CCA>CCG		DDHD domain containing 2 isoform 1							75.0	68.0	71.0					8																	38110569		2203	4300	6503	SO:0001819	synonymous_variant	23259				lipid catabolic process	centrosome	hydrolase activity|metal ion binding	g.chr8:38110569A>G	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1815A>G	8.37:g.38110569A>G						DDHD2_uc003xlc.2_Silent_p.P605P|DDHD2_uc003xld.2_Silent_p.P224P	p.P605P	NM_015214	NP_056029	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)		15	2192	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	605			DDHD.		B3KWV2|B3KXB5|Q9H8X7	Silent	SNP	ENST00000397166.2	37	c.1815A>G	CCDS34883.1	.	.	.	.	.	.	.	.	.	.	A	9.149	1.015700	0.19355	.	.	ENSG00000085788	ENST00000526144	.	.	.	5.9	-1.06	0.10002	.	.	.	.	.	T	0.31702	0.0805	.	.	.	0.33950	D	0.64432	.	.	.	.	.	.	T	0.38607	-0.9653	4	.	.	.	-4.9371	1.1408	0.01765	0.3459:0.31:0.1336:0.2104	.	.	.	.	R	107	.	.	H	+	2	0	DDHD2	38229726	0.000000	0.05858	0.443000	0.26883	0.968000	0.65278	-2.428000	0.01025	-0.088000	0.12506	0.459000	0.35465	CAT		0.473	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	XM_291291		6	32	0	0	0	0.001168	0	6	32				
AGPAT6	137964	broad.mit.edu	37	8	41469728	41469728	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:41469728G>C	ENST00000396987.3	+	7	1658	c.731G>C	c.(730-732)tGt>tCt	p.C244S	RP11-360L9.8_ENST00000581909.1_RNA	NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	244					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|fatty acid metabolic process (GO:0006631)|glandular epithelial cell maturation (GO:0002071)|glycerophospholipid biosynthetic process (GO:0046474)|lactation (GO:0007595)|lipid biosynthetic process (GO:0008610)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)	p.C244S(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			GGTGGCATCTGTGTGGCCAAT	0.458																																							uc003xnz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(730-732)TGT>TCT		lysophosphatidic acid acyltransferase zeta							178.0	147.0	158.0					8																	41469728		2203	4300	6503	SO:0001583	missense	137964				acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	g.chr8:41469728G>C	AF406612	CCDS6117.1	8p11.21	2013-02-05	2013-02-05			ENSG00000158669	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20880	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, zeta"""	608143	"""1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)"""			12938015	Standard	NM_178819		Approved	DKFZp586M1819, LPAAT-zeta	uc003xnz.2	Q86UL3		ENST00000396987.3:c.731G>C	8.37:g.41469728G>C	ENSP00000380184:p.Cys244Ser						p.C244S	NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)		7	1670	+	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	244					Q86V89	Missense_Mutation	SNP	ENST00000396987.3	37	c.731G>C	CCDS6117.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117357	0.94385	.	.	ENSG00000158669	ENST00000396987	D	0.93133	-3.17	5.13	5.13	0.70059	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.96374	0.8817	M	0.86097	2.795	0.80722	D	1	P	0.52061	0.95	P	0.57548	0.823	D	0.96891	0.9653	10	0.87932	D	0	.	17.7619	0.88467	0.0:0.0:1.0:0.0	.	244	Q86UL3	GPAT4_HUMAN	S	244	ENSP00000380184:C244S	ENSP00000380184:C244S	C	+	2	0	AGPAT6	41588885	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.612000	0.98347	2.648000	0.89879	0.655000	0.94253	TGT		0.458	AGPAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377158.1	NM_178819		5	151	0	0	0	0.001168	0	5	151				
SNAI2	6591	broad.mit.edu	37	8	49832731	49832731	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:49832731G>T	ENST00000396822.1	-	3	706	c.349C>A	c.(349-351)Ctt>Att	p.L117I	SNAI2_ENST00000020945.1_Missense_Mutation_p.L117I			O43623	SNAI2_HUMAN	snail family zinc finger 2	117					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.L117I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GGGTCTGAAAGCTTGGACTGT	0.493																																							uc003xqp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(349-351)CTT>ATT		snail 2							167.0	162.0	163.0					8																	49832731		2203	4300	6503	SO:0001583	missense	6591				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:49832731G>T	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.349C>A	8.37:g.49832731G>T	ENSP00000380034:p.Leu117Ile						p.L117I	NM_003068	NP_003059	O43623	SNAI2_HUMAN			2	513	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	117					B2R6P6|Q53FC1	Missense_Mutation	SNP	ENST00000396822.1	37	c.349C>A	CCDS6146.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946172	0.73672	.	.	ENSG00000019549	ENST00000020945;ENST00000396822	T;T	0.11712	2.75;2.75	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.08891	0.0220	N	0.14661	0.345	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.26360	-1.0105	10	0.36615	T	0.2	-12.3999	19.1193	0.93355	0.0:0.0:1.0:0.0	.	117	O43623	SNAI2_HUMAN	I	117	ENSP00000020945:L117I;ENSP00000380034:L117I	ENSP00000020945:L117I	L	-	1	0	SNAI2	49995284	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.095000	0.71439	2.516000	0.84829	0.561000	0.74099	CTT		0.493	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		71	225	1	0	1.91593e-42	0.00361	3.55468e-42	71	225				
PXDNL	137902	broad.mit.edu	37	8	52366151	52366151	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:52366151G>A	ENST00000356297.4	-	10	1277	c.1177C>T	c.(1177-1179)Cat>Tat	p.H393Y	PXDNL_ENST00000543296.1_Missense_Mutation_p.H393Y	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	393	Ig-like C2-type 2.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.H393Y(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AATCGACCATGATCCCGTTGT	0.473																																							uc003xqu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1177-1179)CAT>TAT		peroxidasin homolog-like precursor							142.0	141.0	141.0					8																	52366151		2105	4217	6322	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52366151G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1177C>T	8.37:g.52366151G>A	ENSP00000348645:p.His393Tyr						p.H393Y	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			10	1278	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	393			Ig-like C2-type 2.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.1177C>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462246	0.26248	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.26810	1.71;1.71	4.08	3.2	0.36748	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.26629	0.0651	N	0.20685	0.6	0.20764	N	0.999851	D	0.54601	0.967	P	0.56648	0.803	T	0.06534	-1.0821	9	0.49607	T	0.09	.	7.7456	0.28866	0.1193:0.0:0.8807:0.0	.	393	A1KZ92	PXDNL_HUMAN	Y	393	ENSP00000348645:H393Y;ENSP00000444865:H393Y	ENSP00000348645:H393Y	H	-	1	0	PXDNL	52528704	0.981000	0.34729	0.004000	0.12327	0.016000	0.09150	2.791000	0.47829	0.684000	0.31448	0.650000	0.86243	CAT		0.473	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		11	59	0	0	0	0.000978	0	11	59				
NPBWR1	2831	broad.mit.edu	37	8	53853210	53853210	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:53853210G>T	ENST00000331251.3	+	1	2220	c.743G>T	c.(742-744)cGg>cTg	p.R248L		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	248					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)|regulation of metabolic process (GO:0019222)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.R248L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCCAAGAAGCGGGTGACCTTC	0.672																																							uc011ldu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(742-744)CGG>CTG		G protein-coupled receptor 7							45.0	25.0	32.0					8																	53853210		2203	4298	6501	SO:0001583	missense	2831				synaptic transmission	plasma membrane	opioid receptor activity|protein binding	g.chr8:53853210G>T	BC033145	CCDS6151.1	8p22-q21.13	2012-08-08	2006-02-15	2006-02-15		ENSG00000183729		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4522	protein-coding gene	gene with protein product		600730	"""G protein-coupled receptor 7"""	GPR7		7590751, 12401809	Standard	NM_005285		Approved		uc011ldu.2	P48145		ENST00000331251.3:c.743G>T	8.37:g.53853210G>T	ENSP00000330284:p.Arg248Leu						p.R248L	NM_005285	NP_005276	P48145	NPBW1_HUMAN			1	743	+		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)	248			Cytoplasmic (Potential).		Q6NTC7	Missense_Mutation	SNP	ENST00000331251.3	37	c.743G>T	CCDS6151.1	.	.	.	.	.	.	.	.	.	.	g	31	5.069560	0.93950	.	.	ENSG00000183729	ENST00000331251	T	0.44881	0.91	5.32	5.32	0.75619	GPCR, rhodopsin-like superfamily (1);	0.164619	0.28052	N	0.016781	T	0.61173	0.2326	M	0.86740	2.835	0.44289	D	0.997152	D	0.60575	0.988	P	0.61003	0.882	T	0.66933	-0.5798	10	0.87932	D	0	.	6.389	0.21576	0.209:0.0:0.791:0.0	.	248	P48145	NPBW1_HUMAN	L	248	ENSP00000330284:R248L	ENSP00000330284:R248L	R	+	2	0	NPBWR1	54015763	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.877000	0.63086	2.769000	0.95229	0.651000	0.88453	CGG		0.672	NPBWR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378047.1	NM_005285		3	16	1	0	0.004672	0.004672	0.00512029	3	16				
RP1	6101	broad.mit.edu	37	8	55541388	55541388	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:55541388G>T	ENST00000220676.1	+	4	5094	c.4946G>T	c.(4945-4947)gGg>gTg	p.G1649V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1649					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.G1649V(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTTTTCCTGGGTCTACCCGC	0.373																																					Colon(91;1014 1389 7634 14542 40420)	Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(4945-4947)GGG>GTG		retinitis pigmentosa RP1 protein							100.0	105.0	103.0					8																	55541388		2203	4299	6502	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541388G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.4946G>T	8.37:g.55541388G>T	ENSP00000220676:p.Gly1649Val					RP1_uc011ldy.1_Intron	p.G1649V	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5094	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1649						Missense_Mutation	SNP	ENST00000220676.1	37	c.4946G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.130627	0.37630	.	.	ENSG00000104237	ENST00000220676	T	0.67523	-0.27	5.55	5.55	0.83447	.	0.282354	0.25327	N	0.031461	T	0.80768	0.4686	M	0.61703	1.905	0.50813	D	0.999892	D	0.89917	1.0	D	0.76575	0.988	T	0.81777	-0.0777	10	0.72032	D	0.01	-5.5478	18.4935	0.90855	0.0:0.0:1.0:0.0	.	1649	P56715	RP1_HUMAN	V	1649	ENSP00000220676:G1649V	ENSP00000220676:G1649V	G	+	2	0	RP1	55703941	0.962000	0.33011	0.223000	0.23860	0.138000	0.21146	2.113000	0.41902	2.600000	0.87896	0.563000	0.77884	GGG		0.373	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		35	167	1	0	2.42023e-17	0.003271	4.20235e-17	35	167				
TRPA1	8989	broad.mit.edu	37	8	72948636	72948636	+	Silent	SNP	C	C	A	rs146434598	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:72948636C>A	ENST00000262209.4	-	21	2649	c.2442G>T	c.(2440-2442)acG>acT	p.T814T	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	814					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.T814T(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAATGATGCCCGTCGTGTAGA	0.353																																							uc003xza.2		NA																	3	Substitution - coding silent(3)		lung(2)|large_intestine(1)	ovary(4)|lung(1)|kidney(1)	6						c.(2440-2442)ACG>ACT		ankyrin-like protein 1	Menthol(DB00825)						62.0	62.0	62.0					8																	72948636		2203	4300	6503	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72948636C>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2442G>T	8.37:g.72948636C>A						uc011lff.1_Intron|uc003xyy.2_Intron	p.T814T	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		21	2617	-			814			Helical; Name=3; (Potential).		A6NIN6	Silent	SNP	ENST00000262209.4	37	c.2442G>T	CCDS34908.1																																																																																				0.353	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		8	59	1	0	0.000157383	0.00308	0.000192065	8	59				
KCNB2	9312	broad.mit.edu	37	8	73849102	73849102	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:73849102C>A	ENST00000523207.1	+	3	2100	c.1512C>A	c.(1510-1512)tcC>tcA	p.S504S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	504					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.S504S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AAACAAGCTCCAACAAGTCTT	0.562																																							uc003xzb.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7						c.(1510-1512)TCC>TCA		potassium voltage-gated channel, Shab-related							110.0	117.0	115.0					8																	73849102		2203	4300	6503	SO:0001819	synonymous_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73849102C>A	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1512C>A	8.37:g.73849102C>A							p.S504S	NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		3	2100	+	Breast(64;0.137)		504			Cytoplasmic (Potential).		Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	c.1512C>A	CCDS6209.1																																																																																				0.562	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		6	114	1	0	0.00307968	0.00308	0.00345283	6	114				
HEY1	23462	broad.mit.edu	37	8	80679499	80679499	+	Silent	SNP	G	G	A	rs528107512		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:80679499G>A	ENST00000354724.3	-	2	319	c.120C>T	c.(118-120)tcC>tcT	p.S40S	RP11-26J3.1_ENST00000502766.2_lincRNA|HEY1_ENST00000337919.5_Silent_p.S40S|RP11-27N21.3_ENST00000607172.1_lincRNA|HEY1_ENST00000435063.2_5'Flank|HEY1_ENST00000523976.1_5'Flank	NM_012258.3	NP_036390.3	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	40					angiogenesis (GO:0001525)|anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular valve formation (GO:0003190)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac septum morphogenesis (GO:0060411)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to glucocorticoid stimulus (GO:0071385)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion morphogenesis (GO:0003203)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve morphogenesis (GO:0003184)|regulation of vasculogenesis (GO:2001212)|transcription from RNA polymerase II promoter (GO:0006366)|umbilical cord morphogenesis (GO:0036304)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S40S(2)	HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			ATGTAGTTGGGGACATGGAAC	0.408			T	NCOA2	mesenchymal chondrosarcoma								G|||	1	0.000199681	0.0	0.0	5008	,	,		19648	0.0		0.0	False		,,,				2504	0.001						uc003ybm.2		NA		Dom	yes		8	8q21	23462		hairy/enhancer-of-split related with YRPW motif 1			M					2	Substitution - coding silent(2)		lung(2)	lung(3)	3						c.(118-120)TCC>TCT		hairy/enhancer-of-split related with YRPW motif							138.0	162.0	154.0					8																	80679499		2203	4300	6503	SO:0001819	synonymous_variant	23462				angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr8:80679499G>A	AF151522	CCDS6225.1, CCDS43749.1, CCDS64915.1	8q21	2013-10-17	2013-10-17					"""Basic helix-loop-helix proteins"""	4880	protein-coding gene	gene with protein product		602953	"""hairy/enhancer-of-split related with YRPW motif 1"""			10415358, 10403790	Standard	NM_001040708		Approved	HESR-1, CHF2, HESR1, HRT-1, CHF-2, HERP2, BHLHb31	uc003ybl.3	Q9Y5J3		ENST00000354724.3:c.120C>T	8.37:g.80679499G>A						HEY1_uc010lzq.2_5'Flank|HEY1_uc003ybl.2_Silent_p.S40S	p.S40S	NM_012258	NP_036390	Q9Y5J3	HEY1_HUMAN	Epithelial(68;0.076)|all cancers(69;0.179)		2	320	-	all_lung(9;5.1e-05)		40					B2R883|Q5TZS3|Q8NAM2|Q9NYP4	Silent	SNP	ENST00000354724.3	37	c.120C>T	CCDS6225.1																																																																																				0.408	HEY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000379516.1	NM_012258		89	289	0	0	0	0.00361	0	89	289				
ZNF704	619279	broad.mit.edu	37	8	81577099	81577099	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:81577099C>A	ENST00000327835.3	-	6	1109	c.878G>T	c.(877-879)cGc>cTc	p.R293L	ZNF704_ENST00000520336.1_5'Flank	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	293							metal ion binding (GO:0046872)	p.R293L(1)		lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			GGGAGCTGAGCGGCTCAACGG	0.537																																							uc003yby.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(877-879)CGC>CTC		zinc finger protein 704							136.0	125.0	129.0					8																	81577099		2203	4300	6503	SO:0001583	missense	619279					intracellular	zinc ion binding	g.chr8:81577099C>A	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.878G>T	8.37:g.81577099C>A	ENSP00000331462:p.Arg293Leu						p.R293L	NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		6	1110	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		293					B2RNE6|B9EGW6	Missense_Mutation	SNP	ENST00000327835.3	37	c.878G>T	CCDS34913.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489470	0.64074	.	.	ENSG00000164684	ENST00000327835	D	0.83163	-1.69	6.07	5.02	0.67125	.	0.045996	0.85682	D	0.000000	T	0.77877	0.4196	L	0.43152	1.355	0.80722	D	1	B	0.31519	0.327	B	0.31946	0.138	T	0.73720	-0.3894	10	0.26408	T	0.33	-25.9387	16.2695	0.82607	0.0:0.927:0.0:0.073	.	293	Q6ZNC4	ZN704_HUMAN	L	293	ENSP00000331462:R293L	ENSP00000331462:R293L	R	-	2	0	ZNF704	81739654	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.334000	0.52097	2.890000	0.99128	0.650000	0.86243	CGC		0.537	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		5	112	1	0	0.000602214	0.000602	0.000706611	5	112				
SLC26A7	115111	broad.mit.edu	37	8	92346639	92346639	+	Silent	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:92346639G>A	ENST00000276609.3	+	6	998	c.759G>A	c.(757-759)agG>agA	p.R253R	SLC26A7_ENST00000523719.1_Silent_p.R253R|SLC26A7_ENST00000309536.2_Silent_p.R253R	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.R253R(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGTTTAAAAGGAAAATTAAAG	0.363																																							uc003yex.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(757-759)AGG>AGA		solute carrier family 26, member 7 isoform a							116.0	111.0	113.0					8																	92346639		2202	4299	6501	SO:0001819	synonymous_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92346639G>A	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.759G>A	8.37:g.92346639G>A						SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.R253R|SLC26A7_uc003yfa.2_Silent_p.R253R	p.R253R	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		7	1037	+			253			Extracellular (Potential).			Silent	SNP	ENST00000276609.3	37	c.759G>A	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	G	8.382	0.837794	0.16891	.	.	ENSG00000147606	ENST00000520818	.	.	.	5.53	3.61	0.41365	.	.	.	.	.	T	0.44746	0.1308	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42050	-0.9474	4	.	.	.	.	1.9221	0.03310	0.17:0.13:0.4456:0.2544	.	.	.	.	E	121	.	.	G	+	2	0	SLC26A7	92415815	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	0.283000	0.18846	1.433000	0.47394	0.655000	0.94253	GGA		0.363	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			17	65	0	0	0	0.00499	0	17	65				
KCNS2	3788	broad.mit.edu	37	8	99440308	99440308	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:99440308C>A	ENST00000287042.4	+	2	451	c.101C>A	c.(100-102)aCg>aAg	p.T34K	KCNS2_ENST00000521839.1_Missense_Mutation_p.T34K	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	34					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.T34K(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CGCTCGCACACGCTGCTGCGC	0.667																																					Pancreas(138;844 2489 9202 24627)	Pancreas(138;844 2489 9202 24627)	uc003yin.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(100-102)ACG>AAG		potassium voltage-gated channel,							42.0	39.0	40.0					8																	99440308		2203	4299	6502	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440308C>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.101C>A	8.37:g.99440308C>A	ENSP00000287042:p.Thr34Lys						p.T34K	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	451	+	Breast(36;2.4e-06)		34			Cytoplasmic (Potential).		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.101C>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.041274	0.75732	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	T;T	0.80824	-1.42;-1.42	5.4	5.4	0.78164	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.130558	0.49916	D	0.000125	D	0.91030	0.7178	M	0.92880	3.355	0.47584	D	0.99946	D	0.64830	0.994	P	0.58130	0.833	D	0.93107	0.6513	10	0.87932	D	0	.	18.7928	0.91982	0.0:1.0:0.0:0.0	.	34	Q9ULS6	KCNS2_HUMAN	K	34	ENSP00000287042:T34K;ENSP00000430712:T34K	ENSP00000287042:T34K	T	+	2	0	KCNS2	99509484	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.849000	0.69465	2.523000	0.85059	0.558000	0.71614	ACG		0.667	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		13	23	1	0	1.15088e-07	0.004007	1.60552e-07	13	23				
DCSTAMP	81501	broad.mit.edu	37	8	105361289	105361289	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:105361289C>A	ENST00000297581.2	+	2	558	c.509C>A	c.(508-510)aCc>aAc	p.T170N	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.T170N	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	170					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.T170N(1)									TGGAACCAGACCCTGGCAGTC	0.458																																							uc003ylx.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|large_intestine(1)|ovary(1)	4						c.(508-510)ACC>AAC		dendritic cell-specific transmembrane protein							94.0	93.0	93.0					8																	105361289		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361289C>A	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.509C>A	8.37:g.105361289C>A	ENSP00000297581:p.Thr170Asn						p.T170N	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	558	+			170					B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.509C>A	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645999	0.47258	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.31769	1.48	5.7	3.88	0.44766	.	0.631726	0.17579	N	0.169214	T	0.31327	0.0793	M	0.62723	1.935	0.09310	N	0.999996	P	0.52842	0.956	B	0.44224	0.444	T	0.17501	-1.0367	9	.	.	.	-7.088	7.3762	0.26829	0.3648:0.556:0.0:0.0792	.	170	Q9H295	TM7S4_HUMAN	N	170	ENSP00000297581:T170N	.	T	+	2	0	TM7SF4	105430465	0.307000	0.24500	0.913000	0.36048	0.995000	0.86356	1.307000	0.33516	0.753000	0.32945	0.561000	0.74099	ACC		0.458	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		21	127	1	0	4.26978e-12	0.00333	6.99822e-12	21	127				
CSMD3	114788	broad.mit.edu	37	8	113241022	113241022	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:113241022T>G	ENST00000297405.5	-	70	11171	c.10927A>C	c.(10927-10929)Ata>Cta	p.I3643L	CSMD3_ENST00000455883.2_Missense_Mutation_p.I3474L|CSMD3_ENST00000343508.3_Missense_Mutation_p.I3603L|CSMD3_ENST00000352409.3_Missense_Mutation_p.I3573L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3643						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I3643L(1)|p.I3603L(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						CCTGCAAATATAAGTGCAAAA	0.308										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.(10927-10929)ATA>CTA		CUB and Sushi multiple domains 3 isoform 1							79.0	82.0	81.0					8																	113241022		2203	4296	6499	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113241022T>G	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.10927A>C	8.37:g.113241022T>G	ENSP00000297405:p.Ile3643Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.I2845L|CSMD3_uc003ynt.2_Missense_Mutation_p.I3603L|CSMD3_uc011lhx.1_Missense_Mutation_p.I3474L	p.I3643L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			70	11086	-			3643			Helical; (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10927A>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	34	5.363351	0.95877	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.36878	1.58;1.57;1.65;1.23;1.61	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	M	0.73962	2.25	0.52099	D	0.999947	D;D;P	0.58268	0.982;0.969;0.544	D;D;B	0.69307	0.963;0.919;0.257	T	0.64402	-0.6416	10	0.72032	D	0.01	.	16.2119	0.82168	0.0:0.0:0.0:1.0	.	3474;3643;3603	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	3603;3643;2913;3474;3573	ENSP00000345799:I3603L;ENSP00000297405:I3643L;ENSP00000341558:I2913L;ENSP00000412263:I3474L;ENSP00000343124:I3573L	ENSP00000297405:I3643L	I	-	1	0	CSMD3	113310198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.288000	0.76882	0.482000	0.46254	ATA		0.308	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		23	84	0	0	0	0.00333	0	23	84				
KLHL38	340359	broad.mit.edu	37	8	124664263	124664263	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:124664263C>A	ENST00000325995.7	-	1	927	c.904G>T	c.(904-906)Gtc>Ttc	p.V302F	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	302								p.V302F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TACAGTAGGACGTCCCTGGTG	0.552																																							uc003yqs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(904-906)GTC>TTC		kelch-like 38							97.0	101.0	99.0					8																	124664263		2039	4193	6232	SO:0001583	missense	340359							g.chr8:124664263C>A		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.904G>T	8.37:g.124664263C>A	ENSP00000321475:p.Val302Phe						p.V302F	NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN			1	928	-			302			Kelch 1.		A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.904G>T	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369912	0.61624	.	.	ENSG00000175946	ENST00000325995	T	0.68331	-0.32	5.18	5.18	0.71444	Kelch-type beta propeller (1);	0.052539	0.85682	D	0.000000	T	0.81283	0.4790	M	0.66939	2.045	0.53688	D	0.999974	D	0.89917	1.0	D	0.77557	0.99	T	0.83043	-0.0156	10	0.87932	D	0	.	19.0609	0.93093	0.0:1.0:0.0:0.0	.	302	Q2WGJ6	KLH38_HUMAN	F	302	ENSP00000321475:V302F	ENSP00000321475:V302F	V	-	1	0	KLHL38	124733444	1.000000	0.71417	0.714000	0.30535	0.385000	0.30292	7.729000	0.84864	2.571000	0.86741	0.561000	0.74099	GTC		0.552	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1			22	61	1	0	4.16121e-05	0.00278	5.28098e-05	22	61				
FER1L6	654463	broad.mit.edu	37	8	124975546	124975546	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:124975546G>T	ENST00000522917.1	+	3	311	c.105G>T	c.(103-105)caG>caT	p.Q35H	FER1L6_ENST00000399018.1_Missense_Mutation_p.Q35H	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	35						integral component of membrane (GO:0016021)		p.Q35H(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)			AAGCACTGCAGGAGGAGCCTT	0.478																																							uc003yqw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(103-105)CAG>CAT		fer-1-like 6							168.0	163.0	164.0					8																	124975546		1979	4154	6133	SO:0001583	missense	654463					integral to membrane		g.chr8:124975546G>T	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.105G>T	8.37:g.124975546G>T	ENSP00000428280:p.Gln35His						p.Q35H	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		3	311	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		35			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.105G>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	5.577	0.291255	0.10567	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.81330	-1.48;-1.48	5.16	4.28	0.50868	.	1.790380	0.03836	U	0.269848	T	0.70885	0.3275	N	0.17082	0.46	0.34171	D	0.669751	B	0.06786	0.001	B	0.04013	0.001	T	0.58885	-0.7557	10	0.41790	T	0.15	.	9.5166	0.39109	0.0948:0.0:0.9052:0.0	.	35	Q2WGJ9	FR1L6_HUMAN	H	35	ENSP00000428280:Q35H;ENSP00000381982:Q35H	ENSP00000381982:Q35H	Q	+	3	2	FER1L6	125044727	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	0.406000	0.21032	1.533000	0.49186	0.655000	0.94253	CAG		0.478	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		12	92	1	0	0.000978159	0.000978	0.00113497	12	92				
WISP1	8840	broad.mit.edu	37	8	134225226	134225226	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:134225226G>T	ENST00000250160.6	+	2	295	c.189G>T	c.(187-189)ccG>ccT	p.P63P	WISP1_ENST00000220856.6_Silent_p.P63P|WISP1_ENST00000517423.1_Silent_p.P63P|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	63	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)		p.P63P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCCGCTGCCCGCTGGGGGTCA	0.632																																							uc003yub.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|kidney(1)	2						c.(187-189)CCG>CCT		WNT1 inducible signaling pathway protein 1							37.0	37.0	37.0					8																	134225226		2203	4300	6503	SO:0001819	synonymous_variant	8840				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134225226G>T	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			ENSG00000104415	ENSG00000104415			12769	protein-coding gene	gene with protein product		603398				9843955	Standard	NM_003882		Approved	CCN4	uc003yub.3	O95388	OTTHUMG00000164440	ENST00000250160.6:c.189G>T	8.37:g.134225226G>T						WISP1_uc003yuc.2_Silent_p.P63P|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Silent_p.P63P|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_5'Flank	p.P63P	NM_003882	NP_003873	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		2	265	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		63			IGFBP N-terminal.		A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Silent	SNP	ENST00000250160.6	37	c.189G>T	CCDS6371.1																																																																																				0.632	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2	NM_003882		10	44	1	0	6.40141e-05	0.000978	8.01272e-05	10	44				
FAM135B	51059	broad.mit.edu	37	8	139163668	139163668	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:139163668G>T	ENST00000395297.1	-	13	3220	c.3050C>A	c.(3049-3051)gCa>gAa	p.A1017E		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1017								p.A1017E(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAAGGTCTCTGCAGAAGTCAG	0.522										HNSCC(54;0.14)																													uc003yuy.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(3049-3051)GCA>GAA		hypothetical protein LOC51059							74.0	73.0	73.0					8																	139163668		2203	4300	6503	SO:0001583	missense	51059							g.chr8:139163668G>T	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.3050C>A	8.37:g.139163668G>T	ENSP00000378710:p.Ala1017Glu	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.A918E|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.A579E|FAM135B_uc003yvb.2_Missense_Mutation_p.A579E	p.A1017E	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	3221	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1017					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.3050C>A	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	G	9.362	1.068241	0.20067	.	.	ENSG00000147724	ENST00000395297	T	0.16597	2.33	5.33	4.4	0.53042	.	1.640460	0.02965	N	0.143644	T	0.16471	0.0396	L	0.36672	1.1	0.09310	N	1	B;B;B	0.32160	0.358;0.231;0.089	B;B;B	0.33620	0.167;0.12;0.04	T	0.22138	-1.0225	10	0.14656	T	0.56	0.0	8.384	0.32488	0.0851:0.1573:0.7576:0.0	.	1017;1017;1017	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	E	1017	ENSP00000378710:A1017E	ENSP00000276737:A1017E	A	-	2	0	FAM135B	139232850	0.272000	0.24172	0.881000	0.34555	0.058000	0.15608	1.734000	0.38166	2.501000	0.84356	0.655000	0.94253	GCA		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		15	61	1	0	2.32078e-09	0.003163	3.49073e-09	15	61				
EXOSC4	54512	broad.mit.edu	37	8	145135259	145135259	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:145135259G>A	ENST00000316052.5	+	3	596	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	EXOSC4_ENST00000525936.1_Missense_Mutation_p.R122H|GPAA1_ENST00000355091.4_5'Flank|GPAA1_ENST00000361036.6_5'Flank|CTD-3065J16.9_ENST00000524499.1_RNA	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	165					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)	p.V165M(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCTGGCTTCGTGGACGGCAC	0.637																																							uc003zau.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(493-495)GTG>ATG		exosome component 4							63.0	63.0	63.0					8																	145135259		2203	4300	6503	SO:0001583	missense	54512				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr8:145135259G>A	AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"""exosome component Rrp41"""	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.493G>A	8.37:g.145135259G>A	ENSP00000315476:p.Val165Met					GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank	p.V165M	NM_019037	NP_061910	Q9NPD3	EXOS4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	603	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		165						Missense_Mutation	SNP	ENST00000316052.5	37	c.493G>A	CCDS6414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.88|13.88	2.369923|2.369923	0.42003|0.42003	.|.	.|.	ENSG00000178896|ENSG00000178896	ENST00000525936|ENST00000316052;ENST00000527954	.|T;T	.|0.54479	.|0.57;0.57	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Exoribonuclease, phosphorolytic domain 2 (2);	.|0.067994	.|0.64402	.|D	.|0.000017	T|T	0.46927|0.46927	0.1418|0.1418	M|M	0.66939|0.66939	2.045|2.045	0.32409|0.32409	N|N	0.550922|0.550922	.|P	.|0.44139	.|0.827	.|B	.|0.35971	.|0.215	T|T	0.66528|0.66528	-0.5901|-0.5901	6|10	0.62326|0.62326	D|D	0.03|0.03	-2.085|-2.085	10.1229|10.1229	0.42632|0.42632	0.0915:0.0:0.9085:0.0|0.0915:0.0:0.9085:0.0	.|.	.|165	.|Q9NPD3	.|EXOS4_HUMAN	H|M	122|165;188	.|ENSP00000315476:V165M;ENSP00000436539:V188M	ENSP00000432661:R122H|ENSP00000315476:V165M	R|V	+|+	2|1	0|0	EXOSC4|EXOSC4	145207247|145207247	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.751000|0.751000	0.42716|0.42716	4.237000|4.237000	0.58681|0.58681	2.531000|2.531000	0.85337|0.85337	0.561000|0.561000	0.74099|0.74099	CGT|GTG		0.637	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384065.1	NM_019037		7	56	0	0	0	0.001984	0	7	56				
ARHGAP39	80728	broad.mit.edu	37	8	145773606	145773606	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:145773606C>T	ENST00000276826.5	-	4	1065	c.864G>A	c.(862-864)ctG>ctA	p.L288L	ARHGAP39_ENST00000377307.2_Silent_p.L288L|ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Silent_p.L288L			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	288	Pro-rich.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.L288L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCTGGGCCAGCAGCGGGGAGC	0.687																																							uc003zdt.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(862-864)CTG>CTA		KIAA1688 protein							13.0	16.0	15.0					8																	145773606		2195	4288	6483	SO:0001819	synonymous_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145773606C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.864G>A	8.37:g.145773606C>T						ARHGAP39_uc011llk.1_Silent_p.L288L|ARHGAP39_uc003zds.1_Silent_p.L288L	p.L288L	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			6	1419	-			288			Pro-rich.		B4E1I1	Silent	SNP	ENST00000276826.5	37	c.864G>A																																																																																					0.687	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			6	21	0	0	0	0.001984	0	6	21				
IL33	90865	broad.mit.edu	37	9	6252962	6252962	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:6252962T>A	ENST00000381434.3	+	4	453	c.440T>A	c.(439-441)gTt>gAt	p.V147D	IL33_ENST00000456383.2_Intron|IL33_ENST00000417746.2_Intron	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	147					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)	p.V147D(1)		breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		GAGATATATGTTGAAGACTTG	0.269																																							uc003zjt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(439-441)GTT>GAT		interleukin 33 precursor							53.0	55.0	54.0					9																	6252962		2203	4298	6501	SO:0001583	missense	90865				positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity	g.chr9:6252962T>A	AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.440T>A	9.37:g.6252962T>A	ENSP00000370842:p.Val147Asp					IL33_uc011lmg.1_Intron|IL33_uc011lmh.1_Intron|IL33_uc003zju.1_Missense_Mutation_p.V147D	p.V147D	NM_033439	NP_254274	O95760	IL33_HUMAN		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)	5	497	+		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)	147					B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	ENST00000381434.3	37	c.440T>A	CCDS6468.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.893865	0.52121	.	.	ENSG00000137033	ENST00000381434	T	0.59364	0.27	5.15	5.15	0.70609	.	0.483859	0.17576	N	0.169320	T	0.67795	0.2931	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.69161	-0.5218	10	0.87932	D	0	-11.5028	11.5559	0.50748	0.0:0.0:0.0:1.0	.	147	O95760	IL33_HUMAN	D	147	ENSP00000370842:V147D	ENSP00000370842:V147D	V	+	2	0	IL33	6242962	0.992000	0.36948	0.170000	0.22879	0.343000	0.28985	3.315000	0.51951	2.288000	0.76882	0.528000	0.53228	GTT		0.269	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051655.1	NM_033439		12	41	0	0	0	0.001855	0	12	41				
TPD52L3	89882	broad.mit.edu	37	9	6328769	6328769	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:6328769G>T	ENST00000344545.5	+	1	421	c.174G>T	c.(172-174)ggG>ggT	p.G58G	TPD52L3_ENST00000314556.3_Silent_p.G58G|TPD52L3_ENST00000381428.1_Silent_p.G58G	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	58								p.G58G(2)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		GACGCTGTGGGGAACTCAAGA	0.507																																							uc003zjw.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(172-174)GGG>GGT		protein kinase NYD-SP25 isoform 1							107.0	90.0	96.0					9																	6328769		2203	4300	6503	SO:0001819	synonymous_variant	89882						protein binding	g.chr9:6328769G>T	AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.174G>T	9.37:g.6328769G>T						TPD52L3_uc003zjv.2_Silent_p.G58G|TPD52L3_uc003zjx.1_Silent_p.G58G	p.G58G	NM_033516	NP_277051	Q96J77	TPD55_HUMAN		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)	1	395	+		Acute lymphoblastic leukemia(23;0.158)	58					Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Silent	SNP	ENST00000344545.5	37	c.174G>T	CCDS34986.1																																																																																				0.507	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051658.1	NM_033516		9	42	1	0	5.4927e-09	0.004482	8.11145e-09	9	42				
BNC2	54796	broad.mit.edu	37	9	16552658	16552658	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:16552658T>A	ENST00000380672.4	-	5	596	c.539A>T	c.(538-540)cAa>cTa	p.Q180L	BNC2_ENST00000380666.2_Missense_Mutation_p.Q180L|BNC2_ENST00000545497.1_Missense_Mutation_p.Q85L|BNC2_ENST00000380667.2_Missense_Mutation_p.Q113L	NM_017637.5	NP_060107.3			basonuclin 2									p.Q180L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AGGCACTGCTTGTGTCCCATA	0.562																																							uc003zml.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(538-540)CAA>CTA		basonuclin 2							137.0	104.0	115.0					9																	16552658		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16552658T>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.539A>T	9.37:g.16552658T>A	ENSP00000370047:p.Gln180Leu					BNC2_uc011lmw.1_Missense_Mutation_p.Q85L|BNC2_uc003zmm.2_Missense_Mutation_p.Q138L|BNC2_uc003zmq.1_Missense_Mutation_p.Q194L|BNC2_uc003zmr.1_Missense_Mutation_p.Q217L|BNC2_uc003zmp.1_Missense_Mutation_p.Q208L|BNC2_uc010mij.1_Missense_Mutation_p.Q102L|BNC2_uc011lmv.1_Missense_Mutation_p.Q6L|BNC2_uc003zmo.1_Missense_Mutation_p.Q102L	p.Q180L	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	5	679	-			180						Missense_Mutation	SNP	ENST00000380672.4	37	c.539A>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.989733	0.74589	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.03860	3.78;3.78;3.78;3.78;3.78	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.22704	0.0548	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.963;0.97;0.981;1.0;0.967;0.963	D;P;D;D;D;P;P	0.87578	0.996;0.888;0.961;0.969;0.998;0.901;0.888	T	0.00163	-1.1969	10	0.87932	D	0	-15.7108	16.4578	0.84025	0.0:0.0:0.0:1.0	.	85;113;217;180;6;138;180	F5H586;B1APH0;Q06HC4;Q6ZN30-2;B4E3J2;Q5H9S4;Q6ZN30	.;.;.;.;.;.;BNC2_HUMAN	L	180;137;217;208;113;85;6;180;180	ENSP00000370047:Q180L;ENSP00000408370:Q137L;ENSP00000370042:Q113L;ENSP00000444640:Q85L;ENSP00000370041:Q180L	ENSP00000370041:Q180L	Q	-	2	0	BNC2	16542658	1.000000	0.71417	0.921000	0.36526	0.140000	0.21249	8.040000	0.89188	2.288000	0.76882	0.482000	0.46254	CAA		0.562	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		10	45	0	0	0	0.008291	0	10	45				
IFNA14	3448	broad.mit.edu	37	9	21239471	21239471	+	Missense_Mutation	SNP	A	A	G	rs565382356	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:21239471A>G	ENST00000380222.2	-	1	507	c.464T>C	c.(463-465)aTg>aCg	p.M155T		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	155					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.M155T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TTTCTTCTCCATCAGATAAAG	0.443													A|||	2	0.000399361	0.0015	0.0	5008	,	,		17047	0.0		0.0	False		,,,				2504	0.0						uc010mis.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(463-465)ATG>ACG		interferon, alpha 14 precursor							265.0	265.0	265.0					9																	21239471		2203	4300	6503	SO:0001583	missense	3448				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.chr9:21239471A>G		CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"""Interferons"""	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.464T>C	9.37:g.21239471A>G	ENSP00000369571:p.Met155Thr					IFNA14_uc003zoo.1_RNA	p.M155T	NM_002172	NP_002163	P01570	IFN14_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	508	-			155					Q5VZ56|Q7M4S1	Missense_Mutation	SNP	ENST00000380222.2	37	c.464T>C	CCDS6501.1	.	.	.	.	.	.	.	.	.	.	-	2.449	-0.326744	0.05350	.	.	ENSG00000228083	ENST00000380222	T	0.04970	3.52	3.38	-6.76	0.01732	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.071550	0.07254	N	0.866404	T	0.01387	0.0045	N	0.00500	-1.43	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47071	-0.9145	10	0.23891	T	0.37	.	3.6279	0.08120	0.1261:0.0962:0.5149:0.2628	.	155	P01570	IFN14_HUMAN	T	155	ENSP00000369571:M155T	ENSP00000369571:M155T	M	-	2	0	IFNA14	21229471	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-0.381000	0.07417	-1.304000	0.02329	-2.141000	0.00338	ATG		0.443	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051894.1	NM_002172		8	350	0	0	0	0.007291	0	8	350				
IFNA14	3448	broad.mit.edu	37	9	21239473	21239473	+	Silent	SNP	C	C	T	rs150969341	byFrequency	TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:21239473C>T	ENST00000380222.2	-	1	505	c.462G>A	c.(460-462)ctG>ctA	p.L154L		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	154					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.L154L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCTTCTCCATCAGATAAAGAG	0.448													C|||	14	0.00279553	0.0106	0.0	5008	,	,		17144	0.0		0.0	False		,,,				2504	0.0						uc010mis.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(460-462)CTG>CTA		interferon, alpha 14 precursor							262.0	262.0	262.0					9																	21239473		2203	4300	6503	SO:0001819	synonymous_variant	3448				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.chr9:21239473C>T		CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"""Interferons"""	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.462G>A	9.37:g.21239473C>T						IFNA14_uc003zoo.1_RNA	p.L154L	NM_002172	NP_002163	P01570	IFN14_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	506	-			154					Q5VZ56|Q7M4S1	Silent	SNP	ENST00000380222.2	37	c.462G>A	CCDS6501.1																																																																																				0.448	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051894.1	NM_002172		8	355	0	0	0	0.007291	0	8	355				
SPATA31A6	389730	broad.mit.edu	37	9	43625106	43625106	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:43625106C>T	ENST00000332857.6	-	4	3609	c.3581G>A	c.(3580-3582)tGt>tAt	p.C1194Y	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1194					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.C1194Y(1)									GCTGTACACACATGATCTGTT	0.438																																							uc011lrb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3580-3582)TGT>TAT		hypothetical protein LOC389730							18.0	22.0	21.0					9																	43625106		614	1521	2135	SO:0001583	missense	389730					integral to membrane		g.chr9:43625106C>T		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3581G>A	9.37:g.43625106C>T	ENSP00000329825:p.Cys1194Tyr						p.C1194Y	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	3610	-			1194						Missense_Mutation	SNP	ENST00000332857.6	37	c.3581G>A	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.333012	0.00227	.	.	ENSG00000185775	ENST00000332857	T	0.03386	3.95	2.44	-2.93	0.05598	.	2.705990	0.01547	N	0.019530	T	0.01835	0.0058	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.12156	0.007	T	0.33854	-0.9852	10	0.02654	T	1	6.1362	0.1766	0.00119	0.2604:0.2587:0.1544:0.3265	.	1194	Q5VVP1	F75A6_HUMAN	Y	1194	ENSP00000329825:C1194Y	ENSP00000329825:C1194Y	C	-	2	0	FAM75A6	43565102	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.407000	0.07178	-0.689000	0.05149	0.383000	0.25322	TGT		0.438	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		18	112	0	0	0	0.007413	0	18	112				
FOXB2	442425	broad.mit.edu	37	9	79634849	79634849	+	Silent	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:79634849C>T	ENST00000376708.1	+	1	279	c.279C>T	c.(277-279)tgC>tgT	p.C93C		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	93					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C93C(3)		breast(1)|lung(8)|ovary(1)	10						ACCCCGACTGCGGGGACATGT	0.642																																							uc004ako.1		NA																	3	Substitution - coding silent(3)		lung(3)		0						c.(277-279)TGC>TGT		forkhead box B2							40.0	43.0	42.0					9																	79634849		2203	4300	6503	SO:0001819	synonymous_variant	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79634849C>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.279C>T	9.37:g.79634849C>T							p.C93C	NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN			1	279	+			93			Fork-head.			Silent	SNP	ENST00000376708.1	37	c.279C>T	CCDS35045.1																																																																																				0.642	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		6	23	0	0	0	0.00308	0	6	23				
UBQLN1	29979	broad.mit.edu	37	9	86293365	86293365	+	Silent	SNP	T	T	A	rs375072238		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:86293365T>A	ENST00000376395.4	-	5	1384	c.861A>T	c.(859-861)gcA>gcT	p.A287A	UBQLN1_ENST00000257468.7_Silent_p.A287A	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	287					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)	p.A287A(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						CCTGCTCTTGTGCAGCACTCA	0.458																																					Melanoma(186;1284 2073 12755 14558 18426)	Melanoma(186;1284 2073 12755 14558 18426)	uc004amv.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(859-861)GCA>GCT		ubiquilin 1 isoform 1							205.0	192.0	197.0					9																	86293365		2203	4300	6503	SO:0001819	synonymous_variant	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86293365T>A	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.861A>T	9.37:g.86293365T>A						UBQLN1_uc004amw.2_Silent_p.A287A	p.A287A	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN			5	1435	-			287					Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Silent	SNP	ENST00000376395.4	37	c.861A>T	CCDS6663.1																																																																																				0.458	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		25	212	0	0	0	0.003954	0	25	212				
SECISBP2	79048	broad.mit.edu	37	9	91940394	91940394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:91940394C>T	ENST00000375807.3	+	3	306	c.235C>T	c.(235-237)Cag>Tag	p.Q79*	SECISBP2_ENST00000534113.2_Nonsense_Mutation_p.Q11*|SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000339901.4_Intron	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	79					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)	p.Q79*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TTTTCCACCTCAGTATTTATC	0.388																																							uc004aqj.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|skin(1)	3						c.(235-237)CAG>TAG		SECIS binding protein 2							132.0	122.0	125.0					9																	91940394		2203	4300	6503	SO:0001587	stop_gained	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91940394C>T	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.235C>T	9.37:g.91940394C>T	ENSP00000364965:p.Gln79*					SECISBP2_uc010mqn.1_Nonsense_Mutation_p.Q79*|SECISBP2_uc004aqi.1_Intron|SECISBP2_uc011ltk.1_Nonsense_Mutation_p.Q79*|SECISBP2_uc004aqk.1_Intron|SECISBP2_uc010mqo.1_5'UTR|SECISBP2_uc011ltl.1_Nonsense_Mutation_p.Q11*	p.Q79*	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN			3	315	+			79					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Nonsense_Mutation	SNP	ENST00000375807.3	37	c.235C>T	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	C	38	6.839186	0.97877	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000534113	.	.	.	4.17	4.17	0.49024	.	0.215889	0.33040	N	0.005353	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-18.9284	15.2019	0.73147	0.0:1.0:0.0:0.0	.	.	.	.	X	79;99;11	.	ENSP00000364965:Q79X	Q	+	1	0	SECISBP2	91130214	0.998000	0.40836	0.983000	0.44433	0.763000	0.43281	4.460000	0.60108	2.318000	0.78349	0.462000	0.41574	CAG		0.388	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		28	136	0	0	0	0.004656	0	28	136				
TLR4	7099	broad.mit.edu	37	9	120475175	120475175	+	Missense_Mutation	SNP	C	C	T	rs201835255		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:120475175C>T	ENST00000355622.6	+	3	870	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C	TLR4_ENST00000394487.4_Missense_Mutation_p.R217C|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	257					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.R257C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AGAAGTCCATCGTTTGGTTCT	0.343																																							uc004bjz.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(769-771)CGT>TGT		toll-like receptor 4 precursor							74.0	82.0	79.0					9																	120475175		2201	4299	6500	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475175C>T	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.769C>T	9.37:g.120475175C>T	ENSP00000363089:p.Arg257Cys					TLR4_uc004bka.2_Missense_Mutation_p.R217C|TLR4_uc004bkb.2_Missense_Mutation_p.R57C	p.R257C	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	1060	+			257			Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.769C>T	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589864	0.28357	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.39056	1.39;1.1	5.71	-2.4	0.06583	.	1.288940	0.05227	N	0.509583	T	0.60183	0.2249	M	0.76170	2.325	0.09310	N	0.999998	D	0.89917	1.0	D	0.69654	0.965	T	0.55617	-0.8113	10	0.87932	D	0	.	7.752	0.28903	0.5302:0.3267:0.0808:0.0622	.	257	O00206	TLR4_HUMAN	C	217;257	ENSP00000377997:R217C;ENSP00000363089:R257C	ENSP00000363089:R257C	R	+	1	0	TLR4	119514996	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-0.262000	0.08682	-0.223000	0.09943	-0.241000	0.12123	CGT		0.343	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		24	96	0	0	0	0.00333	0	24	96				
TLR4	7099	broad.mit.edu	37	9	120476002	120476002	+	Missense_Mutation	SNP	C	C	A	rs34953464		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:120476002C>A	ENST00000355622.6	+	3	1697	c.1596C>A	c.(1594-1596)ttC>ttA	p.F532L	TLR4_ENST00000394487.4_Missense_Mutation_p.F492L|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	532					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.F532L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ACAACAACTTCTTTTCATTGG	0.423																																							uc004bjz.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(1594-1596)TTC>TTA		toll-like receptor 4 precursor							97.0	87.0	90.0					9																	120476002		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120476002C>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1596C>A	9.37:g.120476002C>A	ENSP00000363089:p.Phe532Leu					TLR4_uc004bka.2_Missense_Mutation_p.F492L|TLR4_uc004bkb.2_Missense_Mutation_p.F332L	p.F532L	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	1887	+			532			LRR 17.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.1596C>A	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.081556	0.00371	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.00666	5.91;5.91	5.82	-0.865	0.10662	.	0.310011	0.28082	N	0.016678	T	0.00241	0.0007	N	0.00683	-1.26	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43475	-0.9389	10	0.02654	T	1	.	2.6009	0.04866	0.3711:0.3623:0.0901:0.1765	rs34953464	532	O00206	TLR4_HUMAN	L	492;532	ENSP00000377997:F492L;ENSP00000363089:F532L	ENSP00000363089:F532L	F	+	3	2	TLR4	119515823	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.717000	0.04986	-0.162000	0.10964	-0.188000	0.12872	TTC		0.423	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		8	46	1	0	0.000157383	0.00308	0.000192065	8	46				
NUP214	8021	broad.mit.edu	37	9	134103703	134103703	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:134103703G>T	ENST00000359428.5	+	33	6203	c.6059G>T	c.(6058-6060)aGc>aTc	p.S2020I	NUP214_ENST00000451030.1_Missense_Mutation_p.S2021I|NUP214_ENST00000483497.2_Missense_Mutation_p.S846I|NUP214_ENST00000411637.2_Missense_Mutation_p.S2010I			P35658	NU214_HUMAN	nucleoporin 214kDa	2020	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.S2020I(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCAGCTGCCAGCGCAGGAGGA	0.607			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	Pancreas(4;24 48 25510 30394 32571)	uc004cag.2		NA		Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		1	Substitution - Missense(1)		lung(1)	breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(6058-6060)AGC>ATC		nucleoporin 214kDa							35.0	40.0	39.0					9																	134103703		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134103703G>T	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.6059G>T	9.37:g.134103703G>T	ENSP00000352400:p.Ser2020Ile					NUP214_uc004cah.2_Missense_Mutation_p.S2010I|NUP214_uc004cai.2_Missense_Mutation_p.S1450I|NUP214_uc010mzg.2_RNA|NUP214_uc011mcg.1_Missense_Mutation_p.S846I	p.S2020I	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	33	6170	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	2020			Pro/Ser/Thr-rich.|11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.6059G>T	CCDS6940.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	13.93|13.93|13.93	2.385157|2.385157|2.385157	0.42308|0.42308|0.42308	.|.|.	.|.|.	ENSG00000126883|ENSG00000126883|ENSG00000126883	ENST00000498010|ENST00000476004|ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000528406	.|.|T;T;T;T	.|.|0.53857	.|.|1.2;1.21;1.21;0.6	5.28|5.28|5.28	5.28|5.28|5.28	0.74379|0.74379|0.74379	.|.|.	.|.|0.000000	.|.|0.51477	.|.|D	.|.|0.000089	T|T|T	0.55465|0.55465|0.55465	0.1922|0.1922|0.1922	N|N|N	0.08118|0.08118|0.08118	0|0|0	0.46954|0.46954|0.46954	D|D|D	0.999267|0.999267|0.999267	.|.|D;D;D;D	.|.|0.89917	.|.|1.0;1.0;1.0;1.0	.|.|D;D;D;D	.|.|0.77004	.|.|0.989;0.974;0.974;0.974	T|T|T	0.66436|0.66436|0.66436	-0.5924|-0.5924|-0.5924	5|5|10	.|.|0.72032	.|.|D	.|.|0.01	-17.3246|-17.3246|-17.3246	17.8959|17.8959|17.8959	0.88888|0.88888|0.88888	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|846;1614;2010;2020	.|.|B7ZAV2;Q5JUP9;P35658-4;P35658	.|.|.;.;.;NU214_HUMAN	S|H|I	48|31|2020;2010;2021;1999;1614;1449;846;8	.|.|ENSP00000352400:S2020I;ENSP00000396576:S2010I;ENSP00000405014:S2021I;ENSP00000436793:S846I	.|.|ENSP00000352400:S2020I	A|Q|S	+|+|+	1|3|2	0|2|0	NUP214|NUP214|NUP214	133093524|133093524|133093524	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.990000|0.990000|0.990000	0.78478|0.78478|0.78478	2.952000|2.952000|2.952000	0.49097|0.49097|0.49097	2.475000|2.475000|2.475000	0.83589|0.83589|0.83589	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GCG|CAG|AGC		0.607	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		8	38	1	0	0.000274275	0.004482	0.00032922	8	38				
TMEM8C	389827	broad.mit.edu	37	9	136384029	136384029	+	Silent	SNP	G	G	T	rs565261423		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:136384029G>T	ENST00000339996.3	-	3	467	c.366C>A	c.(364-366)atC>atA	p.I122I	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	122					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I122I(1)		NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						TGGCTGTGCCGATGGGGCCCG	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17517	0.0		0.0	False		,,,				2504	0.0						uc011mdk.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(364-366)ATC>ATA		transmembrane protein 8C							93.0	81.0	85.0					9																	136384029		2203	4300	6503	SO:0001819	synonymous_variant	389827					integral to membrane		g.chr9:136384029G>T	BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"""transmembrane protein 226"""	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.366C>A	9.37:g.136384029G>T							p.I122I	NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN			3	366	-			122			Helical; (Potential).			Silent	SNP	ENST00000339996.3	37	c.366C>A	CCDS35170.1																																																																																				0.612	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356200.2	NM_001080483		11	48	1	0	5.50884e-06	0.001368	7.30846e-06	11	48				
COL5A1	1289	broad.mit.edu	37	9	137630626	137630626	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr9:137630626C>A	ENST00000371817.3	+	11	1880	c.1466C>A	c.(1465-1467)aCt>aAt	p.T489N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	489	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.T489N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATGGGTCCCACTGGCCAAGTC	0.557																																							uc004cfe.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.(1465-1467)ACT>AAT		alpha 1 type V collagen preproprotein							73.0	81.0	78.0					9																	137630626		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137630626C>A	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1466C>A	9.37:g.137630626C>A	ENSP00000360882:p.Thr489Asn						p.T489N	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	11	1848	+		Myeloproliferative disorder(178;0.0341)	489			Interrupted collagenous region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1466C>A	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600617	0.28534	.	.	ENSG00000130635	ENST00000371817	D	0.93488	-3.23	4.69	3.79	0.43588	.	0.320829	0.29348	U	0.012412	D	0.87051	0.6081	N	0.25094	0.71	0.25033	N	0.991258	B	0.19935	0.04	B	0.22880	0.042	T	0.79249	-0.1881	10	0.62326	D	0.03	.	8.961	0.35847	0.0:0.8161:0.0:0.1839	.	489	P20908	CO5A1_HUMAN	N	489	ENSP00000360882:T489N	ENSP00000360882:T489N	T	+	2	0	COL5A1	136770447	0.250000	0.23951	1.000000	0.80357	0.319000	0.28217	2.422000	0.44696	0.981000	0.38548	-0.339000	0.08088	ACT		0.557	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		13	55	1	0	2.61681e-11	0.00245	4.18576e-11	13	55				
ARSF	416	broad.mit.edu	37	X	3002690	3002690	+	Silent	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:3002690G>T	ENST00000381127.1	+	6	1034	c.813G>T	c.(811-813)gcG>gcT	p.A271A	ARSF_ENST00000359361.2_Silent_p.A271A|ARSF_ENST00000537104.1_Silent_p.A271A	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	271					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.A271A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				TGAAGGAAGCGATTTCCTTTT	0.438																																							uc004cre.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(811-813)GCG>GCT		arylsulfatase F precursor							43.0	39.0	40.0					X																	3002690		2203	4300	6503	SO:0001819	synonymous_variant	416					extracellular region	arylsulfatase activity|metal ion binding	g.chrX:3002690G>T	X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"""Arylsulfatase family"""	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.813G>T	X.37:g.3002690G>T						ARSF_uc004crf.1_Silent_p.A271A	p.A271A	NM_004042	NP_004033	P54793	ARSF_HUMAN			6	1034	+		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)	271					Q8TCC5	Silent	SNP	ENST00000381127.1	37	c.813G>T	CCDS14123.1																																																																																				0.438	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055652.1			9	18	1	0	5.16669e-11	0.000978	8.19273e-11	9	18				
DMD	1756	broad.mit.edu	37	X	32398634	32398634	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:32398634C>G	ENST00000357033.4	-	34	5044	c.4838G>C	c.(4837-4839)tGg>tCg	p.W1613S	DMD_ENST00000378677.2_Missense_Mutation_p.W1609S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1613	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.W272S(1)|p.W1608S(1)|p.W1609S(1)|p.W1613S(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TACCTTTCCCCAGGCAACTTC	0.358																																							uc004dda.1		NA																	4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(4837-4839)TGG>TCG		dystrophin Dp427m isoform							130.0	116.0	121.0					X																	32398634		2202	4299	6501	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32398634C>G	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4838G>C	X.37:g.32398634C>G	ENSP00000354923:p.Trp1613Ser					DMD_uc004dcw.2_Missense_Mutation_p.W269S|DMD_uc004dcx.2_Missense_Mutation_p.W272S|DMD_uc004dcz.2_Missense_Mutation_p.W1490S|DMD_uc004dcy.1_Missense_Mutation_p.W1609S|DMD_uc004ddb.1_Missense_Mutation_p.W1605S|DMD_uc010ngo.1_Intron	p.W1613S	NM_004006	NP_003997	P11532	DMD_HUMAN			34	5082	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1613			Spectrin 11.|Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4838G>C	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	c	21.0	4.085676	0.76642	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.48201	0.82;0.82	5.21	5.21	0.72293	.	0.000000	0.32578	U	0.005904	T	0.67183	0.2866	M	0.71036	2.16	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999	D;D;D;D;D	0.87578	0.997;0.995;0.998;0.998;0.998	T	0.63817	-0.6551	10	0.21014	T	0.42	.	17.8733	0.88817	0.0:1.0:0.0:0.0	.	1605;1613;1609;272;269	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	S	1605;272;269;1609;1613;1613;1490	ENSP00000367948:W1609S;ENSP00000354923:W1613S	ENSP00000354923:W1613S	W	-	2	0	DMD	32308555	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.815000	0.86186	2.153000	0.67306	0.534000	0.68092	TGG		0.358	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		15	52	0	0	0	0.003163	0	15	52				
DDX3X	1654	broad.mit.edu	37	X	41203341	41203341	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:41203341C>T	ENST00000399959.2	+	9	1679	c.824C>T	c.(823-825)aCg>aTg	p.T275M	DDX3X_ENST00000457138.2_Missense_Mutation_p.T259M|DDX3X_ENST00000542215.1_Silent_p.N290N|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	275	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)	p.T275M(2)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTAGCACCAACGAGAGAGTTG	0.368										HNSCC(61;0.18)																													uc004dfe.2		NA																	2	Substitution - Missense(2)		lung(1)|central_nervous_system(1)	ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(823-825)ACG>ATG		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3							49.0	46.0	47.0					X																	41203341		2087	4229	6316	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41203341C>T	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.824C>T	X.37:g.41203341C>T	ENSP00000382840:p.Thr275Met	HNSCC(61;0.18)				DDX3X_uc010nhf.1_Missense_Mutation_p.T259M|DDX3X_uc004dff.2_Missense_Mutation_p.T275M|DDX3X_uc011mkq.1_Missense_Mutation_p.T259M|DDX3X_uc011mkr.1_Missense_Mutation_p.T275M|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	p.T275M	NM_001356	NP_001347	O00571	DDX3X_HUMAN			9	1679	+			275			Necessary for interaction with XPO1.|Helicase ATP-binding.		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.824C>T	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870402	0.91587	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.19532	2.14;2.14	5.72	5.72	0.89469	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68118	0.2966	H	0.99130	4.44	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	0.83295	-0.0031	10	0.87932	D	0	-10.7647	18.9034	0.92452	0.0:1.0:0.0:0.0	.	275;259;275;287;275	B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;DDX3X_HUMAN	M	275;259	ENSP00000382840:T275M;ENSP00000392494:T259M	ENSP00000382840:T275M	T	+	2	0	DDX3X	41088285	1.000000	0.71417	0.951000	0.38953	0.986000	0.74619	7.440000	0.80464	2.411000	0.81874	0.600000	0.82982	ACG		0.368	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005		7	14	0	0	0	0.00308	0	7	14				
ITIH6	347365	broad.mit.edu	37	X	54783745	54783745	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:54783745G>T	ENST00000218436.6	-	8	2791	c.2762C>A	c.(2761-2763)tCt>tAt	p.S921Y		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	921	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.S921Y(1)									TCCAAGGACAGAGGTGGTTGT	0.577																																							uc004dtj.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(2761-2763)TCT>TAT		inter-alpha (globulin) inhibitor H5-like							87.0	77.0	81.0					X																	54783745		2203	4300	6503	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54783745G>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2762C>A	X.37:g.54783745G>T	ENSP00000218436:p.Ser921Tyr						p.S921Y	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	2792	-			921			Pro-rich.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.2762C>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	1.014	-0.686995	0.03328	.	.	ENSG00000102313	ENST00000218436	T	0.02369	4.32	3.54	2.65	0.31530	.	5.173340	0.01132	U	0.006005	T	0.04003	0.0112	N	0.19112	0.55	0.09310	N	1	P	0.47350	0.894	B	0.44315	0.446	T	0.43032	-0.9416	10	0.62326	D	0.03	.	8.4474	0.32849	0.0:0.2364:0.7636:0.0	.	921	Q6UXX5	ITH5L_HUMAN	Y	921	ENSP00000218436:S921Y	ENSP00000218436:S921Y	S	-	2	0	ITIH5L	54800470	0.602000	0.26916	0.022000	0.16811	0.160000	0.22226	1.604000	0.36804	0.454000	0.26884	-0.371000	0.07208	TCT		0.577	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		7	20	1	0	2.0095e-06	0.001984	2.73038e-06	7	20				
USP51	158880	broad.mit.edu	37	X	55513497	55513497	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:55513497C>A	ENST00000500968.3	-	2	1958	c.1876G>T	c.(1876-1878)Gcc>Tcc	p.A626S	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	626	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A626S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TTAGTAGAGGCCAAAAACGGA	0.433																																							uc004dun.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(1876-1878)GCC>TCC		ubiquitin specific protease 51							75.0	67.0	70.0					X																	55513497		2203	4300	6503	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55513497C>A	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1876G>T	X.37:g.55513497C>A	ENSP00000423333:p.Ala626Ser					USP51_uc011moo.1_Missense_Mutation_p.A330S	p.A626S	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN			2	1955	-			626					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.1876G>T	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	7.279	0.608772	0.14066	.	.	ENSG00000247746	ENST00000500968	T	0.30714	1.52	2.82	2.82	0.32997	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	U	0.000000	T	0.11495	0.0280	N	0.03177	-0.4	0.80722	D	1	B	0.18013	0.025	B	0.23574	0.047	T	0.16689	-1.0394	10	0.02654	T	1	.	10.909	0.47097	0.0:1.0:0.0:0.0	.	626	Q70EK9	UBP51_HUMAN	S	626	ENSP00000423333:A626S	ENSP00000423333:A626S	A	-	1	0	USP51	55530222	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.592000	0.61027	1.695000	0.51148	0.455000	0.32223	GCC		0.433	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		8	13	1	0	0.000442599	0.006214	0.000527798	8	13				
ASB12	142689	broad.mit.edu	37	X	63444307	63444307	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:63444307G>C	ENST00000396130.2	-	2	837	c.838C>G	c.(838-840)Cgc>Ggc	p.R280G	ASB12_ENST00000362002.2_Missense_Mutation_p.R289G|MTMR8_ENST00000453546.1_Missense_Mutation_p.R664G			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	280	SOCS box.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)|p.R664G(1)|p.R289G(1)|p.R280G(1)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						AAGGCTCTGCGGACGACTAAA	0.493																																							uc011mou.1		NA																	5	Substitution - Missense(3)|Whole gene deletion(2)		lung(3)|ovary(1)|large_intestine(1)	ovary(2)|breast(2)	4						c.(1990-1992)CGC>GGC		myotubularin related protein 8							106.0	86.0	92.0					X																	63444307		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63444307G>C	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.838C>G	X.37:g.63444307G>C	ENSP00000379435:p.Arg280Gly					ASB12_uc004dvp.1_Missense_Mutation_p.R280G|ASB12_uc004dvq.1_Missense_Mutation_p.R289G|ASB12_uc004dvr.1_Missense_Mutation_p.R289G	p.R664G	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			11	2058	-			Error:Variant_position_missing_in_Q96EF0_after_alignment					J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37	c.1990C>G		.	.	.	.	.	.	.	.	.	.	G	12.40	1.927219	0.34002	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.64803	-0.12;-0.12;-0.12	3.73	2.87	0.33458	SOCS protein, C-terminal (2);	0.183804	0.45606	D	0.000342	T	0.73674	0.3617	M	0.85630	2.765	0.21220	N	0.999752	D;B	0.61697	0.99;0.218	D;B	0.64042	0.921;0.236	T	0.63305	-0.6667	10	0.52906	T	0.07	-15.3868	4.0617	0.09841	0.1227:0.0:0.5263:0.3509	.	664;280	B4DQL0;Q8WXK4	.;ASB12_HUMAN	G	289;280;257;664	ENSP00000355195:R289G;ENSP00000379435:R280G;ENSP00000394003:R664G	ENSP00000354626:R257G	R	-	1	0	ASB12;MTMR8	63361032	1.000000	0.71417	0.997000	0.53966	0.283000	0.27025	2.172000	0.42463	0.940000	0.37473	0.529000	0.55759	CGC		0.493	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				4	15	0	0	0	0.009096	0	4	15				
TEX11	56159	broad.mit.edu	37	X	69828958	69828958	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:69828958T>G	ENST00000395889.2	-	23	2062	c.1907A>C	c.(1906-1908)cAg>cCg	p.Q636P	TEX11_ENST00000374333.2_Missense_Mutation_p.Q621P|TEX11_ENST00000344304.3_Missense_Mutation_p.Q636P|TEX11_ENST00000374320.2_Missense_Mutation_p.Q311P	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	636					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.Q621P(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)					TCGAAACCACTGAGCTTCATT	0.403																																							uc004dyl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(1906-1908)CAG>CCG		testis expressed sequence 11 isoform 1							96.0	83.0	87.0					X																	69828958		2203	4300	6503	SO:0001583	missense	56159						protein binding	g.chrX:69828958T>G	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.1907A>C	X.37:g.69828958T>G	ENSP00000379226:p.Gln636Pro					TEX11_uc004dyk.2_Missense_Mutation_p.Q311P|TEX11_uc004dym.2_Missense_Mutation_p.Q621P	p.Q636P	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN			23	2069	-	Renal(35;0.156)		636					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.1907A>C	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	T	7.139	0.581353	0.13686	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.44482	1.5;1.5;0.92;1.5	4.4	4.4	0.53042	.	0.499847	0.19654	N	0.109128	T	0.26376	0.0644	N	0.22421	0.69	0.26266	N	0.978504	P;P	0.42296	0.775;0.666	B;B	0.38327	0.271;0.139	T	0.07693	-1.0759	9	.	.	.	-1.7109	8.9756	0.35932	0.0:0.0:0.0:1.0	.	621;636	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	P	621;636;311;636	ENSP00000363453:Q621P;ENSP00000379226:Q636P;ENSP00000363440:Q311P;ENSP00000340995:Q636P	.	Q	-	2	0	TEX11	69745683	1.000000	0.71417	1.000000	0.80357	0.480000	0.33159	4.047000	0.57383	1.636000	0.50526	0.381000	0.24937	CAG		0.403	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			7	14	0	0	0	0.004482	0	7	14				
P2RY10	27334	broad.mit.edu	37	X	78216858	78216859	+	Missense_Mutation	DNP	CG	CG	GA	rs377090188		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:78216858_78216859CG>GA	ENST00000171757.2	+	4	1121_1122	c.841_842CG>GA	c.(841-843)CGa>GAa	p.R281E	P2RY10_ENST00000544091.1_Missense_Mutation_p.R281E	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.R281E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TCCCGTTGTCCGAATCGCACTG	0.421																																							uc004ede.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(841-843)CGA>GAA		G-protein coupled purinergic receptor P2Y10																																				SO:0001583	missense	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216858_78216859CG>GA	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	Exception_encountered	X.37:g.78216858_78216859delinsGA	ENSP00000171757:p.Arg281Glu					P2RY10_uc004edf.2_Missense_Mutation_p.R281E	p.R281E	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	1210_1211	+			281			Extracellular (Potential).		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	DNP	ENST00000171757.2	37	c.841_842CG>GA	CCDS14442.1																																																																																				0.421	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			26	96	0	0	0	0.004672	0	26	96				
BRWD3	254065	broad.mit.edu	37	X	80001181	80001181	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:80001181G>T	ENST00000373275.4	-	7	694	c.478C>A	c.(478-480)Cat>Aat	p.H160N		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	160					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.H160N(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						GGGAAAATATGACCAAAGCGA	0.398																																							uc004edt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(478-480)CAT>AAT		bromodomain and WD repeat domain containing 3							48.0	43.0	45.0					X																	80001181		2203	4299	6502	SO:0001583	missense	254065							g.chrX:80001181G>T		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.478C>A	X.37:g.80001181G>T	ENSP00000362372:p.His160Asn					BRWD3_uc004edo.2_5'UTR|BRWD3_uc004edp.2_5'UTR|BRWD3_uc004edq.2_5'UTR|BRWD3_uc010nmj.1_Intron|BRWD3_uc004edr.2_5'UTR|BRWD3_uc004eds.2_5'UTR|BRWD3_uc004edu.2_5'UTR|BRWD3_uc004edv.2_5'UTR|BRWD3_uc004edw.2_5'UTR|BRWD3_uc004edx.2_5'UTR|BRWD3_uc004edy.2_5'UTR|BRWD3_uc004edz.2_5'UTR|BRWD3_uc004eea.2_5'UTR|BRWD3_uc004eeb.2_Intron	p.H160N	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			7	741	-			160					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.478C>A	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679398	0.47886	.	.	ENSG00000165288	ENST00000373275	T	0.20463	2.07	4.96	4.96	0.65561	.	0.064498	0.64402	D	0.000005	T	0.15782	0.0380	N	0.21448	0.665	0.44754	D	0.997754	B	0.21520	0.057	B	0.17098	0.017	T	0.06899	-1.0801	9	.	.	.	-16.6421	17.4049	0.87470	0.0:0.0:1.0:0.0	.	160	Q6RI45	BRWD3_HUMAN	N	160	ENSP00000362372:H160N	.	H	-	1	0	BRWD3	79887837	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.696000	0.84270	2.294000	0.77228	0.544000	0.68410	CAT		0.398	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		7	27	1	0	5.18039e-06	0.00308	6.91034e-06	7	27				
CYLC1	1538	broad.mit.edu	37	X	83128653	83128653	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:83128653G>T	ENST00000329312.4	+	4	974	c.937G>T	c.(937-939)Gtt>Ttt	p.V313F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	313					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.V312F(1)|p.V313F(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTCAAAGAAAGTTAAGAAAAA	0.348																																							uc004eei.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(937-939)GTT>TTT		cylicin, basic protein of sperm head							41.0	39.0	40.0					X																	83128653		2196	4295	6491	SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83128653G>T	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.937G>T	X.37:g.83128653G>T	ENSP00000331556:p.Val313Phe					CYLC1_uc004eeh.1_Missense_Mutation_p.V312F	p.V313F	NM_021118	NP_066941	P35663	CYLC1_HUMAN			4	958	+			313			2.		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	c.937G>T	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	0.670	-0.802226	0.02841	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.21734	1.99	2.74	0.96	0.19631	.	.	.	.	.	T	0.09158	0.0226	N	0.08118	0	0.09310	N	1	B;P	0.34546	0.101;0.456	B;B	0.31245	0.059;0.126	T	0.23583	-1.0184	9	0.56958	D	0.05	6.5478	4.9268	0.13898	0.2926:0.0:0.7074:0.0	.	313;313	P35663;F5H4V5	CYLC1_HUMAN;.	F	313	ENSP00000331556:V313F	ENSP00000331556:V313F	V	+	1	0	CYLC1	83015309	0.001000	0.12720	0.001000	0.08648	0.005000	0.04900	0.374000	0.20501	0.148000	0.19059	-0.914000	0.02751	GTT		0.348	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		3	18	1	0	0.00909568	0.009096	0.00987956	3	18				
CYLC1	1538	broad.mit.edu	37	X	83129210	83129211	+	Missense_Mutation	DNP	CT	CT	AC			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:83129210_83129211CT>AC	ENST00000329312.4	+	4	1531_1532	c.1494_1495CT>AC	c.(1492-1497)caCTca>caACca	p.498_499HS>QP		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	498					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.H498_S499>QP(1)|p.H497_S498>QP(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACAAGAAACACTCAAAGGAAAA	0.351																																							uc004eei.1		NA																	2	Complex - compound substitution(2)		lung(2)	ovary(4)|skin(1)	5						c.(1492-1497)CACTCA>CAACCA		cylicin, basic protein of sperm head																																				SO:0001583	missense	1538				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity	g.chrX:83129210_83129211CT>AC	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	Exception_encountered	X.37:g.83129210_83129211delinsAC	ENSP00000331556:p.H498_S499delinsQP					CYLC1_uc004eeh.1_Missense_Mutation_p.497_498HS>QP	p.498_499HS>QP	NM_021118	NP_066941	P35663	CYLC1_HUMAN			4	1515_1516	+			498_499			7.		A0AVQ8|Q5JQQ9	Missense_Mutation	DNP	ENST00000329312.4	37	c.1494_1495CT>AC	CCDS35341.1																																																																																				0.351	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		6	6	0	0	0	0.004672	0	6	6				
PCDH11X	27328	broad.mit.edu	37	X	91133849	91133849	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:91133849G>T	ENST00000373094.1	+	2	3455	c.2610G>T	c.(2608-2610)aaG>aaT	p.K870N	PCDH11X_ENST00000395337.2_Missense_Mutation_p.K870N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.K870N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.K870N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.K870N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.K870N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.K870N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.K870N|PCDH11X_ENST00000504220.2_Missense_Mutation_p.K870N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	870	Poly-Lys.				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.K870N(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						Tgaagaaaaagaaaaagaaga	0.413																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(2608-2610)AAG>AAT		protocadherin 11 X-linked isoform c							58.0	56.0	57.0					X																	91133849		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133849G>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.2610G>T	X.37:g.91133849G>T	ENSP00000362186:p.Lys870Asn					PCDH11X_uc004efl.1_Missense_Mutation_p.K870N|PCDH11X_uc004efo.1_Missense_Mutation_p.K870N|PCDH11X_uc010nmv.1_Missense_Mutation_p.K870N|PCDH11X_uc004efm.1_Missense_Mutation_p.K870N|PCDH11X_uc004efn.1_Missense_Mutation_p.K870N|PCDH11X_uc004efh.1_Missense_Mutation_p.K870N|PCDH11X_uc004efj.1_Missense_Mutation_p.K870N	p.K870N	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3455	+			870			Cytoplasmic (Potential).|Poly-Lys.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2610G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912437	0.33721	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	4.63	2.77	0.32553	Protocadherin (1);	0.365820	0.27198	N	0.020471	T	0.48660	0.1512	L	0.50333	1.59	0.24595	N	0.993809	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.962;0.962	T	0.26395	-1.0104	10	0.87932	D	0	.	7.3641	0.26762	0.0937:0.0:0.7408:0.1655	.	870;870;870;870;870;870;870;870	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	N	870	ENSP00000378746:K870N;ENSP00000362186:K870N;ENSP00000362189:K870N;ENSP00000355040:K870N;ENSP00000362180:K870N;ENSP00000423762:K870N;ENSP00000355105:K870N;ENSP00000384758:K870N;ENSP00000298274:K870N	ENSP00000298274:K870N	K	+	3	2	PCDH11X	91020505	1.000000	0.71417	0.998000	0.56505	0.815000	0.46073	2.015000	0.40961	0.744000	0.32741	0.513000	0.50165	AAG		0.413	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		24	21	1	0	1.1804e-14	0.003954	2.01135e-14	24	21				
PCDH11X	27328	broad.mit.edu	37	X	91134054	91134054	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:91134054T>C	ENST00000373094.1	+	2	3660	c.2815T>C	c.(2815-2817)Tac>Cac	p.Y939H	PCDH11X_ENST00000395337.2_Missense_Mutation_p.Y939H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Y939H|PCDH11X_ENST00000361724.1_Missense_Mutation_p.Y939H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.Y939H|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Y939H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Y939H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Y939H|PCDH11X_ENST00000504220.2_Missense_Mutation_p.Y939H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	939					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.Y939H(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						GGCCCGACACTACAAATCTGC	0.473																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(2815-2817)TAC>CAC		protocadherin 11 X-linked isoform c							163.0	148.0	153.0					X																	91134054		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134054T>C	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.2815T>C	X.37:g.91134054T>C	ENSP00000362186:p.Tyr939His					PCDH11X_uc004efl.1_Missense_Mutation_p.Y939H|PCDH11X_uc004efo.1_Missense_Mutation_p.Y939H|PCDH11X_uc010nmv.1_Missense_Mutation_p.Y939H|PCDH11X_uc004efm.1_Missense_Mutation_p.Y939H|PCDH11X_uc004efn.1_Missense_Mutation_p.Y939H|PCDH11X_uc004efh.1_Missense_Mutation_p.Y939H|PCDH11X_uc004efj.1_Missense_Mutation_p.Y939H	p.Y939H	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3660	+			939			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2815T>C	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.115436	0.37339	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52;0.52	5.16	5.16	0.70880	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.80422	2.495	0.43494	D	0.995736	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0;1.0;0.999;0.999	T	0.77354	-0.2619	10	0.87932	D	0	.	13.1864	0.59684	0.0:0.0:0.0:1.0	.	939;939;939;939;939;939;939;939	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	H	939	ENSP00000378746:Y939H;ENSP00000362186:Y939H;ENSP00000362189:Y939H;ENSP00000355040:Y939H;ENSP00000362180:Y939H;ENSP00000423762:Y939H;ENSP00000355105:Y939H;ENSP00000384758:Y939H;ENSP00000298274:Y939H	ENSP00000298274:Y939H	Y	+	1	0	PCDH11X	91020710	1.000000	0.71417	0.998000	0.56505	0.316000	0.28119	7.411000	0.80078	1.706000	0.51276	0.486000	0.48141	TAC		0.473	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		49	47	0	0	0	0.00361	0	49	47				
TCEAL6	158931	broad.mit.edu	37	X	101395808	101395808	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:101395808G>T	ENST00000372774.3	-	3	745	c.496C>A	c.(496-498)Caa>Aaa	p.Q166K	TCEAL6_ENST00000372773.1_Missense_Mutation_p.Q166K	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q166K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						ACATCTCTTTGCATCCAATGA	0.512																																							uc004eiq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(496-498)CAA>AAA		transcription elongation factor A (SII)-like 6							58.0	49.0	52.0					X																	101395808		2197	4273	6470	SO:0001583	missense	158931				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101395808G>T	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.496C>A	X.37:g.101395808G>T	ENSP00000361860:p.Gln166Lys						p.Q166K	NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN			3	657	-			166					Q5H9J8	Missense_Mutation	SNP	ENST00000372774.3	37	c.496C>A	CCDS43978.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968972	0.53614	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.09911	2.93;2.93	2.82	2.82	0.32997	.	0.212324	0.23935	N	0.043113	T	0.14270	0.0345	M	0.73217	2.22	0.24690	N	0.993312	P	0.36837	0.571	B	0.39027	0.288	T	0.09314	-1.0680	10	0.66056	D	0.02	.	8.3639	0.32374	0.0:0.0:1.0:0.0	.	166	Q6IPX3-2	.	K	166	ENSP00000361860:Q166K;ENSP00000361859:Q166K	ENSP00000361859:Q166K	Q	-	1	0	TCEAL6	101282464	0.998000	0.40836	0.949000	0.38748	0.979000	0.70002	2.835000	0.48175	1.692000	0.51112	0.468000	0.43344	CAA		0.512	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		12	40	1	0	4.14922e-12	0.004007	6.81591e-12	12	40				
TCEAL3	85012	broad.mit.edu	37	X	102864488	102864488	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:102864488C>A	ENST00000372628.1	+	3	854	c.496C>A	c.(496-498)Caa>Aaa	p.Q166K	TCEAL3_ENST00000243286.3_Missense_Mutation_p.Q166K|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.Q166K			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q166K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						TCATTGGATGCAAAGAGATGT	0.517																																							uc004ekq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(496-498)CAA>AAA		transcription elongation factor A (SII)-like 3							250.0	232.0	238.0					X																	102864488		2203	4300	6503	SO:0001583	missense	85012				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:102864488C>A	BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.496C>A	X.37:g.102864488C>A	ENSP00000361711:p.Gln166Lys					TCEAL3_uc004ekr.2_Missense_Mutation_p.Q166K	p.Q166K	NM_001006933	NP_001006934	Q969E4	TCAL3_HUMAN			3	758	+			166					D3DXA4	Missense_Mutation	SNP	ENST00000372628.1	37	c.496C>A	CCDS14511.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671592	0.67928	.	.	ENSG00000196507	ENST00000372628;ENST00000372627;ENST00000243286	T;T;T	0.09911	2.93;2.93;2.93	4.59	4.59	0.56863	.	0.209276	0.24224	N	0.040419	T	0.18635	0.0447	M	0.68317	2.08	0.24667	N	0.993436	P	0.48834	0.916	P	0.48334	0.574	T	0.05903	-1.0857	10	0.59425	D	0.04	.	11.6174	0.51098	0.0:1.0:0.0:0.0	.	166	Q969E4	TCAL3_HUMAN	K	166	ENSP00000361711:Q166K;ENSP00000361710:Q166K;ENSP00000243286:Q166K	ENSP00000243286:Q166K	Q	+	1	0	TCEAL3	102751144	0.996000	0.38824	0.857000	0.33713	0.977000	0.68977	2.852000	0.48310	2.516000	0.84829	0.538000	0.68166	CAA		0.517	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057737.1	NM_032926		5	121	1	0	8.12818e-05	0.001984	0.000100707	5	121				
CAPN6	827	broad.mit.edu	37	X	110497517	110497517	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:110497517C>T	ENST00000324068.1	-	3	447	c.280G>A	c.(280-282)Gag>Aag	p.E94K	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	94	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.E94K(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CAATGAGACTCCTGAACAGCC	0.458																																							uc004epc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(280-282)GAG>AAG		calpain 6							147.0	124.0	132.0					X																	110497517		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110497517C>T	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.280G>A	X.37:g.110497517C>T	ENSP00000317214:p.Glu94Lys					CAPN6_uc011msu.1_5'UTR	p.E94K	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			3	448	-			94			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.280G>A	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624638	0.28889	.	.	ENSG00000077274	ENST00000324068	T	0.42513	0.97	5.36	3.47	0.39725	Peptidase C2, calpain, catalytic domain (3);	0.171581	0.49916	D	0.000131	T	0.22166	0.0534	N	0.16201	0.385	0.48185	D	0.999609	B	0.18741	0.03	B	0.23716	0.048	T	0.04976	-1.0914	10	0.15499	T	0.54	.	6.9824	0.24709	0.0:0.6807:0.1432:0.1761	.	94	Q9Y6Q1	CAN6_HUMAN	K	94	ENSP00000317214:E94K	ENSP00000317214:E94K	E	-	1	0	CAPN6	110384173	0.128000	0.22383	1.000000	0.80357	0.937000	0.57800	0.962000	0.29280	1.152000	0.42452	0.594000	0.82650	GAG		0.458	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			23	62	0	0	0	0.003954	0	23	62				
RHOXF2	84528	broad.mit.edu	37	X	119293138	119293138	+	Silent	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:119293138C>A	ENST00000371388.3	+	2	487	c.297C>A	c.(295-297)ggC>ggA	p.G99G		NM_032498.1	NP_115887.1	Q9BQY4	RHXF2_HUMAN	Rhox homeobox family, member 2	99					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.G99G(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2)	8						GCACCAGCGGCAGCGATGGCA	0.647																																							uc004esl.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(295-297)GGC>GGA		Rhox homeobox family, member 2B							39.0	44.0	42.0					X																	119293138		2167	4288	6455	SO:0001819	synonymous_variant	727940					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:119293138C>A		CCDS14594.1	Xq24	2012-12-20			ENSG00000131721	ENSG00000131721		"""Homeoboxes / PRD class"""	30011	protein-coding gene	gene with protein product	"""cancer/testis antigen 107"""	300447				12490318	Standard	NM_032498		Approved	THG1, PEPP-2, PEPP2, CT107		Q9BQY4	OTTHUMG00000022296	ENST00000371388.3:c.297C>A	X.37:g.119293138C>A							p.G99G	NM_001099685	NP_001093155	P0C7M4	RHF2B_HUMAN			2	487	+			99					Q9BR00	Silent	SNP	ENST00000371388.3	37	c.297C>A	CCDS14594.1																																																																																				0.647	RHOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411977.1	NM_032498		6	16	1	0	3.59834e-05	0.001168	4.59055e-05	6	16				
ACTRT1	139741	broad.mit.edu	37	X	127185254	127185254	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:127185254T>A	ENST00000371124.3	-	1	1128	c.932A>T	c.(931-933)gAg>gTg	p.E311V		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	311						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.E311V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GAGCCTTTCCTCCAGCCCAGG	0.502																																							uc004eum.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(931-933)GAG>GTG		actin-related protein T1							118.0	90.0	99.0					X																	127185254		2203	4300	6503	SO:0001583	missense	139741					cytoplasm|cytoskeleton		g.chrX:127185254T>A	AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.932A>T	X.37:g.127185254T>A	ENSP00000360165:p.Glu311Val						p.E311V	NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN			1	1129	-			311					Q6X7C1|Q96L10	Missense_Mutation	SNP	ENST00000371124.3	37	c.932A>T	CCDS14611.1	.	.	.	.	.	.	.	.	.	.	T	6.745	0.506232	0.12883	.	.	ENSG00000123165	ENST00000371124	D	0.94576	-3.46	3.58	1.05	0.20165	.	0.422839	0.21304	N	0.076757	D	0.88926	0.6570	L	0.38531	1.155	0.19575	N	0.999963	P	0.40534	0.72	B	0.40199	0.322	T	0.82163	-0.0593	10	0.87932	D	0	.	4.5263	0.11983	0.1952:0.0:0.3957:0.4091	.	311	Q8TDG2	ACTT1_HUMAN	V	311	ENSP00000360165:E311V	ENSP00000360165:E311V	E	-	2	0	ACTRT1	127012935	0.001000	0.12720	0.041000	0.18516	0.146000	0.21551	0.647000	0.24812	0.103000	0.17682	0.486000	0.48141	GAG		0.502	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058192.1	NM_138289		16	42	0	0	0	0.007413	0	16	42				
SLITRK4	139065	broad.mit.edu	37	X	142716539	142716539	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:142716539C>A	ENST00000381779.4	-	2	2611	c.2386G>T	c.(2386-2388)Ggt>Tgt	p.G796C	SLITRK4_ENST00000338017.4_Missense_Mutation_p.G796C|SLITRK4_ENST00000356928.1_Missense_Mutation_p.G796C	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	796						integral component of membrane (GO:0016021)		p.G796C(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTTGCCACCTATCAGTGAC	0.413																																							uc004fbx.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(2386-2388)GGT>TGT		slit and trk like 4 protein precursor							144.0	126.0	132.0					X																	142716539		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142716539C>A	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2386G>T	X.37:g.142716539C>A	ENSP00000371198:p.Gly796Cys					SLITRK4_uc004fby.2_Missense_Mutation_p.G796C	p.G796C	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	2762	-	Acute lymphoblastic leukemia(192;6.56e-05)		796			Cytoplasmic (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.2386G>T	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333240	0.60853	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.52983	0.64;0.64;0.64	5.39	5.39	0.77823	.	0.000000	0.64402	U	0.000001	T	0.44244	0.1284	L	0.44542	1.39	0.80722	D	1	B	0.22003	0.063	B	0.24394	0.053	T	0.32903	-0.9889	10	0.46703	T	0.11	-4.7373	16.6022	0.84819	0.0:1.0:0.0:0.0	.	796	Q8IW52	SLIK4_HUMAN	C	796	ENSP00000371198:G796C;ENSP00000349400:G796C;ENSP00000336627:G796C	ENSP00000336627:G796C	G	-	1	0	SLITRK4	142544205	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.662000	0.61525	2.234000	0.73211	0.600000	0.82982	GGT		0.413	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		21	78	1	0	2.37509e-13	0.010504	4.00968e-13	21	78				
SLITRK2	84631	broad.mit.edu	37	X	144905684	144905684	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:144905684A>T	ENST00000370490.1	+	1	5996	c.1741A>T	c.(1741-1743)Agc>Tgc	p.S581C	SLITRK2_ENST00000428560.2_Missense_Mutation_p.S581C|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S581C|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S581C|SLITRK2_ENST00000447897.2_Missense_Mutation_p.S581C			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	581					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.S581C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTCCAGACAGCCCAAACTT	0.473																																							uc004fcd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(1741-1743)AGC>TGC		SLIT and NTRK-like family, member 2 precursor							70.0	59.0	63.0					X																	144905684		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144905684A>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1741A>T	X.37:g.144905684A>T	ENSP00000359521:p.Ser581Cys					SLITRK2_uc010nsp.2_Missense_Mutation_p.S581C|SLITRK2_uc010nso.2_Missense_Mutation_p.S581C|SLITRK2_uc011mwq.1_Missense_Mutation_p.S581C|SLITRK2_uc011mwr.1_Missense_Mutation_p.S581C|SLITRK2_uc011mws.1_Missense_Mutation_p.S581C|SLITRK2_uc004fcg.2_Missense_Mutation_p.S581C|SLITRK2_uc011mwt.1_Missense_Mutation_p.S581C	p.S581C	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	2731	+	Acute lymphoblastic leukemia(192;6.56e-05)		581			Extracellular (Potential).		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.1741A>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	A	8.862	0.947123	0.18356	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.52295	0.7;0.67;0.67;0.67;0.67;0.67	5.51	3.04	0.35103	.	0.466873	0.24265	N	0.040053	T	0.30572	0.0769	N	0.19112	0.55	0.09310	N	1	B	0.28933	0.228	B	0.35899	0.213	T	0.20706	-1.0267	10	0.54805	T	0.06	-1.8694	2.8635	0.05594	0.6013:0.0:0.2121:0.1866	.	581	Q9H156	SLIK2_HUMAN	C	581	ENSP00000334374:S581C;ENSP00000411681:S581C;ENSP00000359521:S581C;ENSP00000397015:S581C;ENSP00000407347:S581C;ENSP00000412010:S581C	ENSP00000334374:S581C	S	+	1	0	SLITRK2	144713376	0.391000	0.25221	0.004000	0.12327	0.780000	0.44128	1.188000	0.32102	0.673000	0.31224	0.486000	0.48141	AGC		0.473	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		8	22	0	0	0	0.00308	0	8	22				
MAGEA11	4110	broad.mit.edu	37	X	148798362	148798362	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:148798362G>A	ENST00000355220.5	+	5	1318	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	MAGEA11_ENST00000333104.4_Missense_Mutation_p.A377T	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	406	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.A406T(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CATAGCCAATGCCAATGGGAG	0.557																																							uc004fdq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1216-1218)GCC>ACC		melanoma antigen family A, 11 isoform a							156.0	123.0	134.0					X																	148798362		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148798362G>A		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.1216G>A	X.37:g.148798362G>A	ENSP00000347358:p.Ala406Thr					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.A377T	p.A406T	NM_005366	NP_005357	P43364	MAGAB_HUMAN			5	1318	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		406			MAGE.		Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.1216G>A	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	9.079	0.998879	0.19121	.	.	ENSG00000185247	ENST00000333104;ENST00000355220	T;T	0.01705	4.68;4.68	0.976	0.0428	0.14219	.	.	.	.	.	T	0.02012	0.0063	L	0.43152	1.355	0.09310	N	1	P;P	0.38745	0.608;0.645	B;B	0.41271	0.352;0.306	T	0.45293	-0.9271	8	.	.	.	.	3.205	0.06662	0.3286:0.0:0.6714:0.0	.	377;406	G5E962;P43364	.;MAGAB_HUMAN	T	377;406	ENSP00000328177:A377T;ENSP00000347358:A406T	.	A	+	1	0	MAGEA11	148576043	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.649000	0.01993	-0.054000	0.13266	0.429000	0.28392	GCC		0.557	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		24	97	0	0	0	0.004656	0	24	97				
GPR50	9248	broad.mit.edu	37	X	150349228	150349228	+	Silent	SNP	A	A	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:150349228A>G	ENST00000218316.3	+	2	1242	c.1173A>G	c.(1171-1173)agA>agG	p.R391R	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	391	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.R391R(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCCATTCCAGATCCTCCTCTG	0.577																																							uc010ntg.1		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1171-1173)AGA>AGG		G protein-coupled receptor 50							99.0	111.0	107.0					X																	150349228		2115	4212	6327	SO:0001819	synonymous_variant	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349228A>G	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1173A>G	X.37:g.150349228A>G						uc004fes.1_5'Flank	p.R391R	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			2	1308	+	Acute lymphoblastic leukemia(192;6.56e-05)		391			Cytoplasmic (Potential).|Pro-rich.		Q0VGG3|Q3ZAR0	Silent	SNP	ENST00000218316.3	37	c.1173A>G	CCDS44012.1																																																																																				0.577	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		15	49	0	0	0	0.003163	0	15	49				
MAGEA12	4111	broad.mit.edu	37	X	151900601	151900601	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:151900601C>A	ENST00000357916.4	-	2	355	c.200G>T	c.(199-201)gGa>gTa	p.G67V	CSAG1_ENST00000370291.2_5'Flank|CSAG4_ENST00000361201.4_RNA|CSAG1_ENST00000452779.2_5'Flank|MAGEA12_ENST00000393900.3_Missense_Mutation_p.G67V|CSAG1_ENST00000370287.3_5'Flank|MAGEA12_ENST00000393869.3_Missense_Mutation_p.G67V	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	67								p.G67V(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGAGGCTCCCTGAGGACT	0.592																																							uc010ntp.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(199-201)GGA>GTA		melanoma antigen family A, 12							95.0	91.0	93.0					X																	151900601		2203	4300	6503	SO:0001583	missense	4111							g.chrX:151900601C>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.200G>T	X.37:g.151900601C>A	ENSP00000350592:p.Gly67Val					MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.G67V|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	p.G67V	NM_005367	NP_005358	P43365	MAGAC_HUMAN			3	554	-	Acute lymphoblastic leukemia(192;6.56e-05)		67					Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	c.200G>T	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.237872	0.22711	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.05925	3.37;3.37;3.37	1.14	1.14	0.20703	Melanoma associated antigen, MAGE, N-terminal (1);	2.292810	0.01331	N	0.011242	T	0.27241	0.0668	M	0.84846	2.72	0.18873	N	0.999982	D	0.71674	0.998	D	0.72075	0.976	T	0.02991	-1.1085	10	0.59425	D	0.04	.	5.1942	0.15227	0.0:1.0:0.0:0.0	.	67	P43365	MAGAC_HUMAN	V	67	ENSP00000350592:G67V;ENSP00000377447:G67V;ENSP00000377478:G67V	ENSP00000350592:G67V	G	-	2	0	MAGEA12	151651257	0.001000	0.12720	0.002000	0.10522	0.019000	0.09904	0.192000	0.17096	0.831000	0.34780	0.179000	0.17066	GGA		0.592	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		25	42	1	0	9.86323e-18	0.003954	1.72489e-17	25	42				
CMC4	100272147	broad.mit.edu	37	X	154290188	154290188	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:154290188C>G	ENST00000369484.3	-	3	815	c.137G>C	c.(136-138)aGa>aCa	p.R46T	CMC4_ENST00000369479.1_Missense_Mutation_p.R46T	NM_001018024.2	NP_001018024.1	P56277	CMC4_HUMAN	C-x(9)-C motif containing 4	46					cell proliferation (GO:0008283)	mitochondrion (GO:0005739)		p.R46T(1)									GACGACAGATCTTCCCTTGGG	0.438																																							uc004fmy.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(136-138)AGA>ACA		mature T-cell proliferation 1 neighbor							174.0	146.0	155.0					X																	154290188		2203	4300	6503	SO:0001583	missense	100272147				cell proliferation	mitochondrion		g.chrX:154290188C>G		CCDS14764.1	Xq28	2013-10-18	2013-10-18	2012-10-15	ENSG00000182712	ENSG00000182712			35428	protein-coding gene	gene with protein product	"""mature T-cell proliferation 1, isoform p8"""		"""mature T-cell proliferation 1 neighbor"", ""C-x(9)-C motif containing 4 homolog (S. cerevisiae)"""	MTCP1, MTCP1NB		8361760, 9405159, 20922212	Standard	NM_001018024		Approved	P8MTCP1, p8	uc004fmy.3	P56277	OTTHUMG00000158504	ENST00000369484.3:c.137G>C	X.37:g.154290188C>G	ENSP00000358496:p.Arg46Thr						p.R46T	NM_001018024	NP_001018024	P56277	MTCNB_HUMAN			3	726	-			46					Q5HYP9	Missense_Mutation	SNP	ENST00000369484.3	37	c.137G>C	CCDS14764.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883732	0.51908	.	.	ENSG00000182712	ENST00000369484;ENST00000369479	.	.	.	5.51	3.68	0.42216	.	0.619625	0.11610	U	0.546803	T	0.42494	0.1205	.	.	.	0.80722	D	1	B	0.21606	0.058	B	0.18871	0.023	T	0.21177	-1.0253	8	0.27785	T	0.31	-14.6742	7.4387	0.27171	0.0:0.7398:0.167:0.0932	.	46	P56277	MTCNB_HUMAN	T	46	.	ENSP00000358491:R46T	R	-	2	0	MTCP1NB	153943382	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.800000	0.47900	1.188000	0.43014	0.600000	0.82982	AGA		0.438	CMC4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000037822.2	NM_001018024.2		3	80	0	0	0	0.004672	0	3	80				
RERE	473	broad.mit.edu	37	1	8424286	8424286	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:8424286delC	ENST00000337907.3	-	16	2204	c.1570delG	c.(1570-1572)gagfs	p.E524fs	RERE_ENST00000476556.1_5'UTR|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Frame_Shift_Del_p.E524fs|RERE_ENST00000460659.1_5'Flank|RERE_ENST00000377464.1_Frame_Shift_Del_p.E256fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	524					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGGATGTTCTCCCGGCCTCCG	0.592																																							uc001ape.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1570-1572)GAGfs		atrophin-1 like protein isoform a							86.0	93.0	90.0					1																	8424286		2203	4300	6503	SO:0001589	frameshift_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8424286delC	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1570delG	1.37:g.8424286delC	ENSP00000338629:p.Glu524fs					RERE_uc001apf.2_Frame_Shift_Del_p.E524fs|RERE_uc010nzx.1_Frame_Shift_Del_p.E256fs|RERE_uc001apd.2_5'UTR	p.E524fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	16	2380	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	524			GATA-type.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Frame_Shift_Del	DEL	ENST00000337907.3	37	c.1570delG	CCDS95.1																																																																																				0.592	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			22	59	NA	NA	NA	NA	NA	22	59	---	---	---	---
COL16A1	1307	broad.mit.edu	37	1	32155450	32155450	+	Frame_Shift_Del	DEL	A	A	-	rs373880076		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:32155450delA	ENST00000373672.3	-	23	2028	c.1512delT	c.(1510-1512)ggtfs	p.G504fs	COL16A1_ENST00000373668.3_Frame_Shift_Del_p.G504fs|COL16A1_ENST00000271069.6_Frame_Shift_Del_p.G504fs	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	504	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CACAGGGGTCACCCTAGCAGA	0.597																																					Colon(143;498 1786 21362 25193 36625)	Colon(143;498 1786 21362 25193 36625)	uc001btk.1		NA																	0				ovary(8)	8						c.(1510-1512)GGTfs		alpha 1 type XVI collagen precursor							53.0	54.0	54.0					1																	32155450		1991	4163	6154	SO:0001589	frameshift_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32155450delA	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1512delT	1.37:g.32155450delA	ENSP00000362776:p.Gly504fs					COL16A1_uc001btj.1_Frame_Shift_Del_p.G333fs|COL16A1_uc001btl.3_Frame_Shift_Del_p.G504fs	p.G504fs	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	23	1877	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	504			Triple-helical region 9 (COL9) with 3 imperfections.		Q16593|Q59F89|Q71RG9	Frame_Shift_Del	DEL	ENST00000373672.3	37	c.1512delT	CCDS41297.1																																																																																				0.597	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		8	42	NA	NA	NA	NA	NA	8	42	---	---	---	---
LCE2B	26239	broad.mit.edu	37	1	152659518	152659518	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:152659518delG	ENST00000368780.3	+	2	253	c.199delG	c.(199-201)gggfs	p.G67fs	LCE2B_ENST00000417924.2_Frame_Shift_Del_p.G67fs	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	67	Cys-rich.				epidermis development (GO:0008544)|keratinization (GO:0031424)					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCAACTCTGGGGCTGGTGG	0.672																																							uc001fai.2		NA																	0				ovary(1)|skin(1)	2						c.(199-201)GGGfs		late cornified envelope 2B							76.0	92.0	86.0					1																	152659518		2203	4300	6503	SO:0001589	frameshift_variant	26239				keratinization			g.chr1:152659518delG	BI670514	CCDS1020.1	1q21	2008-02-05	2004-10-11	2004-10-15	ENSG00000159455	ENSG00000159455		"""Late cornified envelopes"""	16610	protein-coding gene	gene with protein product		612610	"""small proline rich-like (epidermal differentiation complex) 1B"""	SPRL1B		11698679, 9344646	Standard	NM_014357		Approved	LEP10, XP5	uc001fai.3	O14633	OTTHUMG00000012404	ENST00000368780.3:c.199delG	1.37:g.152659518delG	ENSP00000357769:p.Gly67fs						p.G67fs	NM_014357	NP_055172	O14633	LCE2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	253	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		67			Cys-rich.		Q5TA80	Frame_Shift_Del	DEL	ENST00000368780.3	37	c.199delG	CCDS1020.1																																																																																				0.672	LCE2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034524.1	NM_014357		20	238	NA	NA	NA	NA	NA	20	238	---	---	---	---
RNASEL	6041	broad.mit.edu	37	1	182554909	182554909	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:182554909delC	ENST00000367559.3	-	2	1286	c.1033delG	c.(1033-1035)gcafs	p.A346fs	RNASEL_ENST00000444138.1_Frame_Shift_Del_p.A346fs|RNASEL_ENST00000539397.1_Frame_Shift_Del_p.A346fs	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	346					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTCAGGGCTGCCCCCCAGTGT	0.453																																							uc001gpj.1		NA																	0				ovary(4)|stomach(1)	5						c.(1033-1035)GCAfs		ribonuclease L							51.0	54.0	53.0					1																	182554909		2203	4300	6503	SO:0001589	frameshift_variant	6041	Hereditary_Prostate_Cancer			mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182554909delC	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1033delG	1.37:g.182554909delC	ENSP00000356530:p.Ala346fs					RNASEL_uc009wxz.1_Frame_Shift_Del_p.A345fs|RNASEL_uc001gpk.2_Frame_Shift_Del_p.A345fs|RNASEL_uc009wya.1_Frame_Shift_Del_p.A345fs	p.A345fs	NM_021133	NP_066956	Q05823	RN5A_HUMAN			1	1200	-			345					Q5W0L2|Q6AI46	Frame_Shift_Del	DEL	ENST00000367559.3	37	c.1033delG	CCDS1347.1																																																																																				0.453	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		7	65	NA	NA	NA	NA	NA	7	65	---	---	---	---
PSEN2	5664	broad.mit.edu	37	1	227081775	227081775	+	Frame_Shift_Del	DEL	G	G	-	rs377494557		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr1:227081775delG	ENST00000366783.3	+	12	1576	c.1140delG	c.(1138-1140)acgfs	p.T380fs	PSEN2_ENST00000340188.4_Frame_Shift_Del_p.T347fs|PSEN2_ENST00000366782.1_Frame_Shift_Del_p.T413fs|PSEN2_ENST00000422240.2_Frame_Shift_Del_p.T379fs|PSEN2_ENST00000391872.2_Frame_Shift_Del_p.T413fs|PSEN2_ENST00000472139.2_Frame_Shift_Del_p.T236fs|PSEN2_ENST00000471728.1_3'UTR	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	380					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CGGCTGCCACGGGCAGCGGGG	0.642																																							uc009xeo.1		NA																	0				lung(2)	2						c.(1138-1140)ACGfs		presenilin 2 isoform 1							61.0	62.0	62.0					1																	227081775		2203	4300	6503	SO:0001589	frameshift_variant	5664				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding	g.chr1:227081775delG	BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"""Alzheimer disease 4"""	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.1140delG	1.37:g.227081775delG	ENSP00000355747:p.Thr380fs					CABC1_uc001hqm.1_5'Flank|PSEN2_uc009xep.1_Frame_Shift_Del_p.T379fs|PSEN2_uc001hqk.2_RNA|uc001hql.1_5'Flank	p.T380fs	NM_000447	NP_000438	P49810	PSN2_HUMAN			12	1567	+		Prostate(94;0.0771)	380			Cytoplasmic (Potential).		A8K8D4|B1AP21|Q96P32	Frame_Shift_Del	DEL	ENST00000366783.3	37	c.1140delG	CCDS1556.1																																																																																				0.642	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		12	58	NA	NA	NA	NA	NA	12	58	---	---	---	---
TPH1	7166	broad.mit.edu	37	11	18050811	18050811	+	Frame_Shift_Del	DEL	A	A	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:18050811delA	ENST00000250018.2	-	5	1130	c.568delT	c.(568-570)tgcfs	p.C190fs	TPH1_ENST00000341556.2_Frame_Shift_Del_p.C190fs	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	190					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TACTCTCTGCAAGCATGGGTT	0.413																																							uc001mnp.2		NA																	0					0						c.(568-570)TGCfs		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						236.0	243.0	240.0					11																	18050811		2200	4293	6493	SO:0001589	frameshift_variant	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18050811delA	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.568delT	11.37:g.18050811delA	ENSP00000250018:p.Cys190fs					TPH1_uc009yhe.2_Intron	p.C190fs	NM_004179	NP_004170	P17752	TPH1_HUMAN			5	594	-			190					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Frame_Shift_Del	DEL	ENST00000250018.2	37	c.568delT	CCDS7829.1																																																																																				0.413	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		47	370	NA	NA	NA	NA	NA	47	370	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900397	123900397	+	Frame_Shift_Del	DEL	C	C	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr11:123900397delC	ENST00000431524.1	+	1	101	c.68delC	c.(67-69)gccfs	p.A23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCGCTGGACGCCCCCCTCTTT	0.592																																							uc001pzp.1		NA																	0				ovary(1)|skin(1)	2						c.(67-69)GCCfs		olfactory receptor, family 10, subfamily G,							184.0	172.0	176.0					11																	123900397		2201	4299	6500	SO:0001589	frameshift_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900397delC	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.68delC	11.37:g.123900397delC	ENSP00000389072:p.Ala23fs						p.A23fs	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	68	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	23			Extracellular (Potential).		B2RNJ3|Q6IEV2	Frame_Shift_Del	DEL	ENST00000431524.1	37	c.68delC	CCDS31704.1																																																																																				0.592	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		49	155	NA	NA	NA	NA	NA	49	155	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64516501	64516501	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr14:64516501delG	ENST00000344113.4	+	47	7762	c.7550delG	c.(7549-7551)agcfs	p.S2517fs	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Frame_Shift_Del_p.S2550fs|SYNE2_ENST00000358025.3_Frame_Shift_Del_p.S2517fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2517					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACAAAGAAAGCCAATATTGT	0.393																																							uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(7549-7551)AGCfs		spectrin repeat containing, nuclear envelope 2							80.0	76.0	77.0					14																	64516501		1834	4086	5920	SO:0001589	frameshift_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64516501delG	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7550delG	14.37:g.64516501delG	ENSP00000341781:p.Ser2517fs					SYNE2_uc001xgl.2_Frame_Shift_Del_p.S2517fs	p.S2517fs	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	47	7780	+			2517			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Del	DEL	ENST00000344113.4	37	c.7550delG	CCDS41963.1																																																																																				0.393	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	67	NA	NA	NA	NA	NA	7	67	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51902186	51902187	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr17:51902186_51902187insT	ENST00000268919.4	+	1	1948_1949	c.1792_1793insT	c.(1792-1794)gttfs	p.V598fs		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	598					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATTGAAGAGGTTGAAACATTA	0.421																																							uc002iua.2		NA																	0				ovary(5)|skin(3)	8						c.(1792-1794)GTTfs		kinesin family member 2B																																				SO:0001589	frameshift_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51902186_51902187insT	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1794dupT	17.37:g.51902188_51902188dupT	ENSP00000268919:p.Val598fs					uc010wna.1_RNA	p.V598fs	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1948_1949	+			598					Q96MA2|Q9BXG6	Frame_Shift_Ins	INS	ENST00000268919.4	37	c.1792_1793insT	CCDS32685.1																																																																																				0.421	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		48	103	NA	NA	NA	NA	NA	48	103	---	---	---	---
ANO7	50636	broad.mit.edu	37	2	242128053	242128053	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr2:242128053delG	ENST00000274979.8	+	1	130	c.27delG	c.(25-27)gcgfs	p.A9fs	ANO7_ENST00000402430.3_Frame_Shift_Del_p.A9fs|ANO7_ENST00000402530.3_Frame_Shift_Del_p.A9fs	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	9					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTGCCTGGGCGGGGCTCCAAG	0.687																																							uc002wax.2		NA																	0				pancreas(2)|central_nervous_system(1)	3						c.(25-27)GCGfs		transmembrane protein 16G isoform NGEP long							29.0	30.0	30.0					2																	242128053		2202	4300	6502	SO:0001589	frameshift_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242128053delG	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.27delG	2.37:g.242128053delG	ENSP00000274979:p.Ala9fs					ANO7_uc002waw.2_Frame_Shift_Del_p.A9fs	p.A9fs	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			1	130	+			9			Cytoplasmic (Potential).		Q6IWH6	Frame_Shift_Del	DEL	ENST00000274979.8	37	c.27delG	CCDS33423.1																																																																																				0.687	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		24	39	NA	NA	NA	NA	NA	24	39	---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	2777972	2777973	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr3:2777972_2777973insA	ENST00000397461.1	+	4	513_514	c.129_130insA	c.(130-132)aaafs	p.K44fs	CNTN4_ENST00000418658.1_Frame_Shift_Ins_p.K44fs|CNTN4_ENST00000427331.1_Frame_Shift_Ins_p.K44fs	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	44	Ig-like C2-type 1.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATTCTGAGGAGAAAAAAGTGAA	0.361																																							uc003bpc.2		NA																	0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(127-132)GAGAAAfs		contactin 4 isoform a precursor																																				SO:0001589	frameshift_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2777972_2777973insA	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.135dupA	3.37:g.2777978_2777978dupA	ENSP00000380602:p.Lys44fs					CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Frame_Shift_Ins_p.E43fs	p.E43fs	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	4	350_351	+		Ovarian(110;0.156)	43_44			Ig-like C2-type 1.		B2RAX3|Q8IX14|Q8TC35	Frame_Shift_Ins	INS	ENST00000397461.1	37	c.129_130insA	CCDS43041.1																																																																																				0.361	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			37	157	NA	NA	NA	NA	NA	37	157	---	---	---	---
CSN1S1	1446	broad.mit.edu	37	4	70810648	70810648	+	Frame_Shift_Del	DEL	C	C	-	rs368452787		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:70810648delC	ENST00000246891.4	+	15	532	c.483delC	c.(481-483)ttcfs	p.F161fs	CSN1S1_ENST00000507763.1_Frame_Shift_Del_p.F152fs|CSN1S1_ENST00000444405.3_Frame_Shift_Del_p.F152fs|CSN1S1_ENST00000505782.1_Frame_Shift_Del_p.F145fs|CSN1S1_ENST00000507772.1_Frame_Shift_Del_p.F153fs	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	161						extracellular region (GO:0005576)|extracellular space (GO:0005615)	transporter activity (GO:0005215)			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						ATGTTCCTTTCCCACCGTTTT	0.408																																							uc003hep.1		NA																	0					0						c.(481-483)TTCfs		casein alpha s1 isoform 1							316.0	301.0	306.0					4																	70810648		1949	4140	6089	SO:0001589	frameshift_variant	1446					extracellular region	protein binding|transporter activity	g.chr4:70810648delC	X78416	CCDS47067.1, CCDS54769.1	4q21.1	2014-02-19	2003-01-24	2003-01-31	ENSG00000126545	ENSG00000126545			2445	protein-coding gene	gene with protein product		115450	"""casein, alpha"""	CASA, CSN1		9050925, 7619062	Standard	NM_001890		Approved		uc003hep.1	P47710	OTTHUMG00000160843	ENST00000246891.4:c.483delC	4.37:g.70810648delC	ENSP00000246891:p.Phe161fs					CSN1S1_uc003heq.1_Frame_Shift_Del_p.F152fs|CSN1S1_uc003her.1_Frame_Shift_Del_p.F153fs	p.F161fs	NM_001890	NP_001881	P47710	CASA1_HUMAN			15	532	+			161					A1A510|A1A511|E9PB60|Q4PNR5	Frame_Shift_Del	DEL	ENST00000246891.4	37	c.483delC	CCDS47067.1																																																																																				0.408	CSN1S1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362629.1			39	261	NA	NA	NA	NA	NA	39	261	---	---	---	---
NDST3	9348	broad.mit.edu	37	4	119145679	119145679	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr4:119145679delG	ENST00000296499.5	+	7	1976	c.1573delG	c.(1573-1575)gggfs	p.G525fs	NDST3_ENST00000433996.2_Frame_Shift_Del_p.G444fs	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	525	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GTCCAACTATGGGAATGACCG	0.408																																							uc003ibx.2		NA																	0				large_intestine(1)	1						c.(1573-1575)GGGfs		N-deacetylase/N-sulfotransferase (heparan							128.0	126.0	127.0					4																	119145679		2203	4299	6502	SO:0001589	frameshift_variant	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119145679delG	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.1573delG	4.37:g.119145679delG	ENSP00000296499:p.Gly525fs					NDST3_uc011cgf.1_Frame_Shift_Del_p.G444fs	p.G525fs	NM_004784	NP_004775	O95803	NDST3_HUMAN			7	1976	+			525			Lumenal (Potential).|Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Frame_Shift_Del	DEL	ENST00000296499.5	37	c.1573delG	CCDS3708.1																																																																																				0.408	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		11	158	NA	NA	NA	NA	NA	11	158	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38820518	38820518	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:38820518delG	ENST00000359357.3	+	38	5118	c.4864delG	c.(4864-4866)gcafs	p.A1622fs	DNAH8_ENST00000441566.1_Frame_Shift_Del_p.A1622fs|DNAH8_ENST00000449981.2_Frame_Shift_Del_p.A1839fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1622				A -> T (in Ref. 1; AAK60620). {ECO:0000305}.	cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GACATTTCATGCAAAAGACTA	0.383																																							uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(4864-4866)GCAfs		dynein, axonemal, heavy polypeptide 8							105.0	101.0	102.0					6																	38820518		2203	4300	6503	SO:0001589	frameshift_variant	1769							g.chr6:38820518delG	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4864delG	6.37:g.38820518delG	ENSP00000352312:p.Ala1622fs						p.A1622fs	NM_001371	NP_001362					38	5464	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Del	DEL	ENST00000359357.3	37	c.4864delG																																																																																					0.383	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		30	88	NA	NA	NA	NA	NA	30	88	---	---	---	---
MAD2L1BP	9587	broad.mit.edu	37	6	43604373	43604375	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr6:43604373_43604375delCTT	ENST00000372171.4	+	2	359_361	c.302_304delCTT	c.(301-306)ccttct>cct	p.S102del	MAD2L1BP_ENST00000451025.2_In_Frame_Del_p.S134del|MAD2L1BP_ENST00000508232.1_3'UTR	NM_014628.2	NP_055443.1	Q15013	MD2BP_HUMAN	MAD2L1 binding protein	102					mitotic cell cycle checkpoint (GO:0007093)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(3)	5	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			TACCGAAAACCTTCTCCCCAGGT	0.483																																							uc003ovv.2		NA																	0					0						c.(301-306)CCTTCT>CCT		MAD2L1 binding protein isoform 2																																				SO:0001651	inframe_deletion	9587				mitotic cell cycle checkpoint|regulation of exit from mitosis	cytoplasm|nucleus|spindle	protein binding	g.chr6:43604373_43604375delCTT	BC002904	CCDS4904.1, CCDS47431.1	6p21.1	2003-06-23			ENSG00000124688	ENSG00000124688			21059	protein-coding gene	gene with protein product						7788527, 12456649	Standard	NM_014628		Approved	CMT2, KIAA0110, dJ261G23.1	uc003ovu.3	Q15013	OTTHUMG00000014747	ENST00000372171.4:c.302_304delCTT	6.37:g.43604373_43604375delCTT	ENSP00000361244:p.Ser102del					MAD2L1BP_uc003ovu.2_In_Frame_Del_p.S134del	p.S102del	NM_014628	NP_055443	Q15013	MD2BP_HUMAN	all cancers(41;0.000351)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		2	338_340	+	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		102					B4DLV3|E9PAT7|Q6IBB1	In_Frame_Del	DEL	ENST00000372171.4	37	c.302_304delCTT	CCDS4904.1																																																																																				0.483	MAD2L1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040692.2	NM_014628		13	97	NA	NA	NA	NA	NA	13	97	---	---	---	---
ZNF479	90827	broad.mit.edu	37	7	57188660	57188661	+	Frame_Shift_Ins	INS	-	-	T			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:57188660_57188661insT	ENST00000331162.4	-	5	731_732	c.461_462insA	c.(460-462)aacfs	p.N154fs		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	154					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.N154K(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GAAATATTTTGTTTTGGGTAGT	0.292																																							uc010kzo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(460-462)AACfs		zinc finger protein 479																																				SO:0001589	frameshift_variant	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188660_57188661insT	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.462dupA	7.37:g.57188664_57188664dupT	ENSP00000333776:p.Asn154fs						p.N154fs	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	732_733	-			154						Frame_Shift_Ins	INS	ENST00000331162.4	37	c.461_462insA	CCDS43590.1																																																																																				0.292	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		10	119	NA	NA	NA	NA	NA	10	119	---	---	---	---
Unknown	0	broad.mit.edu	37	7	63679724	63679724	+	IGR	DEL	C	C	-			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr7:63679724delC								GUSBP6 (68625 upstream) : ZNF679 (9127 downstream)																							AGACCTTCAGCCAGAGCAGAG	0.313																																							uc011kdn.1		NA																	0					0						c.(295-297)CCAfs		zinc finger protein 735							33.0	26.0	28.0					7																	63679724		692	1589	2281	SO:0001628	intergenic_variant	730291				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63679724delC																													7.37:g.63679724delC							p.P99fs	NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN			4	295	+			99						Frame_Shift_Del	DEL		37	c.295delC																																																																																				0	0.313									17	229	NA	NA	NA	NA	NA	17	229	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104987714	104987715	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr8:104987714_104987715insA	ENST00000436393.2	+	14	2482_2483	c.2241_2242insA	c.(2242-2244)agtfs	p.S748fs	RIMS2_ENST00000262231.10_Frame_Shift_Ins_p.S809fs|RIMS2_ENST00000507740.1_Frame_Shift_Ins_p.S762fs|RIMS2_ENST00000406091.3_Frame_Shift_Ins_p.S970fs			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1032	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CATGGTCACCCAGTGTCCCTCC	0.416										HNSCC(12;0.0054)																													uc003yls.2		NA																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2239-2244)CCCAGTfs		regulating synaptic membrane exocytosis 2																																				SO:0001589	frameshift_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104987714_104987715insA	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2242dupA	8.37:g.104987715_104987715dupA	ENSP00000390665:p.Ser748fs	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Frame_Shift_Ins_p.P969fs|RIMS2_uc003ylw.2_Frame_Shift_Ins_p.P761fs|RIMS2_uc003ylq.2_Frame_Shift_Ins_p.P761fs|RIMS2_uc003ylr.2_Frame_Shift_Ins_p.P808fs|RIMS2_uc003ylt.2_Frame_Shift_Ins_p.P354fs	p.P747fs	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		14	2482_2483	+			1031_1032					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Frame_Shift_Ins	INS	ENST00000436393.2	37	c.2241_2242insA																																																																																					0.416	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		12	51	NA	NA	NA	NA	NA	12	51	---	---	---	---
KLHL4	56062	broad.mit.edu	37	X	86890577	86890578	+	Frame_Shift_Ins	INS	-	-	T	rs372139949		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chrX:86890577_86890578insT	ENST00000373119.4	+	9	1872_1873	c.1727_1728insT	c.(1726-1731)ggtggafs	p.G577fs	KLHL4_ENST00000373114.4_Frame_Shift_Ins_p.G577fs	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	577						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TATGCTATTGGTGGACGTGATG	0.391																																							uc004efb.2		NA																	0				ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1726-1728)GGTfs		kelch-like 4 isoform 1																																				SO:0001589	frameshift_variant	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86890577_86890578insT	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1728dupT	X.37:g.86890578_86890578dupT	ENSP00000362211:p.Gly577fs					KLHL4_uc004efa.2_Frame_Shift_Ins_p.G576fs	p.G576fs	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			9	1909_1910	+			576			Kelch 4.		B2RTW2|Q9Y3J5	Frame_Shift_Ins	INS	ENST00000373119.4	37	c.1727_1728insT	CCDS14457.1																																																																																				0.391	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			13	18	NA	NA	NA	NA	NA	13	18	---	---	---	---
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-50-5933-01A-11D-1753-08	TCGA-50-5933-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cc3a9cfe-8a14-4fb4-a60f-3ec795c5d7a1	90712f33-34db-4346-ab22-59c1a11ebe99	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)GGT>TGT		c-K-ras2 protein isoform a precursor							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA	p.G12C	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	215	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		6	23	1	1	1	0.00308	1	6	23	NA	NA	NA	NA
