#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
TARDBP	23435	broad.mit.edu	37	1	11080565	11080565	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:11080565G>C	ENST00000240185.3	+	5	737	c.623G>C	c.(622-624)cGg>cCg	p.R208P	TARDBP_ENST00000439080.2_Missense_Mutation_p.R92P|TARDBP_ENST00000315091.3_Missense_Mutation_p.R208P	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	208	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R208P(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GATGAGCTGCGGGAGTTCTTC	0.468																																							uc001art.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(622-624)CGG>CCG		TAR DNA binding protein							144.0	137.0	140.0					1																	11080565		2203	4300	6503	SO:0001583	missense	23435				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:11080565G>C	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.623G>C	1.37:g.11080565G>C	ENSP00000240185:p.Arg208Pro					TARDBP_uc010oap.1_Missense_Mutation_p.R92P	p.R208P	NM_007375	NP_031401	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)	5	757	+	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	208	Missing: Alters but does not abolish RNA binding.		RRM 2.		A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	ENST00000240185.3	37	c.623G>C	CCDS122.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.583692	0.65992	.	.	ENSG00000120948	ENST00000240185;ENST00000439080;ENST00000315091	D;D;D	0.92397	-3.03;-3.03;-3.03	5.76	-4.63	0.03359	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.316077	0.37261	N	0.002165	D	0.95790	0.8630	M	0.94021	3.485	0.51012	D	0.999901	P;D	0.55605	0.86;0.972	P;D	0.64237	0.763;0.923	D	0.94601	0.7796	9	.	.	.	-7.8289	14.278	0.66194	0.5642:0.0:0.4358:0.0	.	92;208	B4DJ45;Q13148	.;TADBP_HUMAN	P	208;92;208	ENSP00000240185:R208P;ENSP00000404666:R92P;ENSP00000313129:R208P	.	R	+	2	0	TARDBP	11003152	0.777000	0.28628	0.066000	0.19879	0.498000	0.33706	0.633000	0.24598	-1.271000	0.02430	-0.136000	0.14681	CGG		0.468	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		4	101	0	0	0	0.00024832	0	4	101				
CTRC	11330	broad.mit.edu	37	1	15770006	15770006	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:15770006C>G	ENST00000375949.4	+	5	475	c.449C>G	c.(448-450)cCc>cGc	p.P150R	CTRC_ENST00000375943.2_3'UTR|CTRC_ENST00000483406.1_3'UTR	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	150	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.P150R(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCTGCTCCCCAAGGACTAC	0.582																																							uc001awi.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(448-450)CCC>CGC		chymotrypsin C preproprotein							141.0	130.0	133.0					1																	15770006		2203	4300	6503	SO:0001583	missense	11330				proteolysis		serine-type endopeptidase activity	g.chr1:15770006C>G	BC015118	CCDS156.1	1p36.21	2009-02-18			ENSG00000162438	ENSG00000162438	3.4.21.2		2523	protein-coding gene	gene with protein product	"""elastase 4"""	601405				8635596	Standard	NM_007272		Approved	CLCR, ELA4	uc001awi.1	Q99895	OTTHUMG00000002255	ENST00000375949.4:c.449C>G	1.37:g.15770006C>G	ENSP00000365116:p.Pro150Arg					CTRC_uc001awj.1_Missense_Mutation_p.P150R	p.P150R	NM_007272	NP_009203	Q99895	CTRC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	5	472	+		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)	150			Peptidase S1.		A8K082|O00765|Q9NUH5	Missense_Mutation	SNP	ENST00000375949.4	37	c.449C>G	CCDS156.1	.	.	.	.	.	.	.	.	.	.	.	18.60	3.659628	0.67586	.	.	ENSG00000162438	ENST00000375949	D	0.89196	-2.48	4.91	4.91	0.64330	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.483859	0.24354	N	0.039255	D	0.91580	0.7340	L	0.53671	1.685	0.80722	D	1	D;D	0.61080	0.989;0.989	P;P	0.62014	0.897;0.897	D	0.91830	0.5474	10	0.72032	D	0.01	-6.5653	12.7668	0.57396	0.1646:0.8354:0.0:0.0	.	150;150	A8MTQ9;Q99895	.;CTRC_HUMAN	R	150	ENSP00000365116:P150R	ENSP00000365116:P150R	P	+	2	0	CTRC	15642593	0.032000	0.19561	0.911000	0.35937	0.672000	0.39443	3.117000	0.50407	2.576000	0.86940	0.549000	0.68633	CCC		0.582	CTRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006435.1	NM_007272		4	86	0	0	0	0.00024832	0	4	86				
DNAJC16	23341	broad.mit.edu	37	1	15890493	15890494	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:15890493_15890494GG>TT	ENST00000375847.3	+	10	1572_1573	c.1408_1409GG>TT	c.(1408-1410)GGg>TTg	p.G470L	DNAJC16_ENST00000483270.1_3'UTR|RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000375849.1_Missense_Mutation_p.G470L|DNAJC16_ENST00000375838.1_Missense_Mutation_p.G470L	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	470					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.G470V(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CCCTTGGATTGGGAGTGAGAGT	0.465																																							uc001aws.2		NA																	1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|lung(1)|kidney(1)	3						c.(1408-1410)GGG>TTG		DnaJ (Hsp40) homolog, subfamily C, member 16																																				SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15890493_15890494GG>TT	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	Exception_encountered	1.37:g.15890493_15890494delinsTT	ENSP00000365007:p.Gly470Leu					DNAJC16_uc001awr.1_Missense_Mutation_p.G470L|DNAJC16_uc001awt.2_Missense_Mutation_p.G158L|DNAJC16_uc001awu.2_RNA	p.G470L	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	10	1528_1529	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	470			Cytoplasmic (Potential).		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	DNP	ENST00000375847.3	37	c.1408_1409GG>TT	CCDS30606.1																																																																																				0.465	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		9	167	0	0	0	6.4e-05	0	9	167				
SPEN	23013	broad.mit.edu	37	1	16257949	16257949	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:16257949C>G	ENST00000375759.3	+	11	5418	c.5214C>G	c.(5212-5214)ccC>ccG	p.P1738P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1738					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.P1738P(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTCCAACTCCCGGGGCCTCGT	0.562																																							uc001axk.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(5212-5214)CCC>CCG		spen homolog, transcriptional regulator							139.0	154.0	149.0					1																	16257949		2203	4300	6503	SO:0001819	synonymous_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16257949C>G		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5214C>G	1.37:g.16257949C>G						SPEN_uc010obp.1_Silent_p.P1697P	p.P1738P	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	5418	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1738					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	c.5214C>G	CCDS164.1																																																																																				0.562	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		4	176	0	0	0	1.23904e-05	0	4	176				
CLIC4	25932	broad.mit.edu	37	1	25167381	25167381	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:25167381G>T	ENST00000374379.4	+	6	912	c.715G>T	c.(715-717)Gag>Tag	p.E239*		NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	239	GST C-terminal.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|endothelial cell morphogenesis (GO:0001886)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|fertilization (GO:0009566)|keratinocyte differentiation (GO:0030216)|multicellular organism growth (GO:0035264)|negative regulation of cell migration (GO:0030336)|regulation of cytoskeleton organization (GO:0051493)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|vacuolar acidification (GO:0007035)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|microvillus (GO:0005902)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.E239*(1)		large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		CAGTGATAAGGAGGTTGAAAT	0.398																																							uc001bjo.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(715-717)GAG>TAG		chloride intracellular channel 4							127.0	118.0	121.0					1																	25167381		2203	4300	6503	SO:0001587	stop_gained	25932				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity	g.chr1:25167381G>T	AF097330	CCDS256.1	1p	2012-09-26			ENSG00000169504	ENSG00000169504		"""Ion channels / Chloride channels : Intracellular"""	13518	protein-coding gene	gene with protein product		606536				9139710, 10070163	Standard	NM_013943		Approved	DKFZP566G223, CLIC4L, P64H1, H1, huH1, p64H1	uc001bjo.2	Q9Y696	OTTHUMG00000003327	ENST00000374379.4:c.715G>T	1.37:g.25167381G>T	ENSP00000363500:p.Glu239*					CLIC4_uc001bjn.2_RNA|CLIC4_uc001bjp.1_Nonsense_Mutation_p.E219*	p.E239*	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)	6	1000	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	239			GST C-terminal.		Q9UFW9|Q9UQJ6	Nonsense_Mutation	SNP	ENST00000374379.4	37	c.715G>T	CCDS256.1	.	.	.	.	.	.	.	.	.	.	G	37	6.458362	0.97581	.	.	ENSG00000169504	ENST00000374379	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-18.9502	19.7357	0.96202	0.0:0.0:1.0:0.0	.	.	.	.	X	239	.	ENSP00000363500:E239X	E	+	1	0	CLIC4	25039968	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.662000	0.90505	0.563000	0.77884	GAG		0.398	CLIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009332.1	NM_013943		34	20	1	0	3.90053e-15	0.000409698	9.28568e-14	34	20				
KPNA6	23633	broad.mit.edu	37	1	32636463	32636463	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:32636463C>T	ENST00000373625.3	+	14	1672	c.1579C>T	c.(1579-1581)Cct>Tct	p.P527S	KPNA6_ENST00000537234.1_Missense_Mutation_p.P524S|RP4-622L5.2_ENST00000515055.1_RNA|KPNA6_ENST00000545542.1_Missense_Mutation_p.P532S	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	527					maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.P527S(1)		large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTTCCAGCAGCCTGAGGCCCC	0.582																																							uc001bug.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1579-1581)CCT>TCT		karyopherin alpha 6							73.0	71.0	71.0					1																	32636463		2203	4300	6503	SO:0001583	missense	23633				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr1:32636463C>T	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.1579C>T	1.37:g.32636463C>T	ENSP00000362728:p.Pro527Ser					KPNA6_uc001buh.2_Missense_Mutation_p.P302S|KPNA6_uc010ogx.1_Missense_Mutation_p.P524S|KPNA6_uc010ogy.1_Missense_Mutation_p.P532S|KPNA6_uc009vtz.2_Missense_Mutation_p.P422S	p.P527S	NM_012316	NP_036448	O60684	IMA7_HUMAN			14	1667	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	527					B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	c.1579C>T	CCDS352.1	.	.	.	.	.	.	.	.	.	.	C	2.531	-0.308423	0.05458	.	.	ENSG00000025800	ENST00000373625;ENST00000537234;ENST00000545542	T;T;T	0.27890	1.64;1.64;1.64	5.11	3.2	0.36748	.	0.167950	0.56097	D	0.000038	T	0.14056	0.0340	N	0.10782	0.045	0.40357	D	0.979198	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.08994	-1.0695	10	0.09084	T	0.74	-8.741	10.5015	0.44808	0.2701:0.5997:0.1302:0.0	.	532;532;527	F5GYL8;B4DWX3;O60684	.;.;IMA7_HUMAN	S	527;524;532	ENSP00000362728:P527S;ENSP00000444930:P524S;ENSP00000440609:P532S	ENSP00000362728:P527S	P	+	1	0	KPNA6	32409050	0.998000	0.40836	0.999000	0.59377	0.304000	0.27724	1.116000	0.31221	0.801000	0.34066	-0.993000	0.02533	CCT		0.582	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316		34	39	0	0	0	0.000109025	0	34	39				
LCK	3932	broad.mit.edu	37	1	32745271	32745271	+	Splice_Site	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:32745271G>C	ENST00000336890.5	+	10	1102		c.e10-1		LCK_ENST00000333070.4_Missense_Mutation_p.G352R|LCK_ENST00000373564.3_Splice_Site	NM_005356.3	NP_005347.3	P06239	LCK_HUMAN	LCK proto-oncogene, Src family tyrosine kinase						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aging (GO:0007568)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular zinc ion homeostasis (GO:0006882)|dephosphorylation (GO:0016311)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hemopoiesis (GO:0030097)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|positive regulation of uterine smooth muscle contraction (GO:0070474)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of defense response to virus by virus (GO:0050690)|regulation of lymphocyte activation (GO:0051249)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to zinc ion (GO:0010043)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|pericentriolar material (GO:0000242)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|ATP binding (GO:0005524)|ATPase binding (GO:0051117)|CD4 receptor binding (GO:0042609)|CD8 receptor binding (GO:0042610)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine kinase activity (GO:0004713)|SH2 domain binding (GO:0042169)	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)|Ponatinib(DB08901)	TCTGCCCACAGGGAGTCTAGT	0.562			T	TRB@	T-ALL																																		uc001bux.2		NA		Dom	yes		1	1p35-p34.3	3932	T	lymphocyte-specific protein tyrosine kinase			L	TRB@		T-ALL		2	Unknown(2)		lung(2)	lung(3)|central_nervous_system(2)|ovary(1)	6						c.e10-1		lymphocyte-specific protein tyrosine kinase	Dasatinib(DB01254)						119.0	126.0	124.0					1																	32745271		2203	4300	6503	SO:0001630	splice_region_variant	3932				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding	g.chr1:32745271G>C	M36881	CCDS359.1	1p34.3	2014-09-17	2014-06-25		ENSG00000182866	ENSG00000182866	2.7.10.1	"""SH2 domain containing"""	6524	protein-coding gene	gene with protein product		153390	"""lymphocyte-specific protein tyrosine kinase"""			2787474	Standard	XM_005270862		Approved		uc001buy.3	P06239	OTTHUMG00000007463	ENST00000336890.5:c.965-1G>C	1.37:g.32745271G>C						LCK_uc001buy.2_Splice_Site_p.G322_splice|LCK_uc001buz.2_Missense_Mutation_p.G352R|LCK_uc010ohc.1_Splice_Site_p.G366_splice|LCK_uc001bva.2_Splice_Site_p.G329_splice	p.G322_splice	NM_005356	NP_005347	P06239	LCK_HUMAN			10	1103	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)						D3DPP8|P07100|Q12850|Q13152|Q5TDH8|Q5TDH9|Q7RTZ3|Q96DW4|Q9NYT8	Splice_Site	SNP	ENST00000336890.5	37	c.965_splice	CCDS359.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|G	22.5|22.5	4.292868|4.292868	0.80914|0.80914	.|.	.|.	ENSG00000182866|ENSG00000182866	ENST00000336890;ENST00000398345;ENST00000495610;ENST00000436824;ENST00000373564|ENST00000333070	.|D	.|0.82893	.|-1.66	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.080378	.|0.51477	.|D	.|0.000090	.|D	.|0.91805	.|0.7407	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	.|D	.|0.91894	.|0.5526	.|9	.|0.62326	.|D	.|0.03	.|.	19.4989|19.4989	0.95085|0.95085	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|352	.|P06239-3	.|.	.|R	-1|352	.|ENSP00000328213:G352R	.|ENSP00000328213:G352R	.|G	+|+	.|1	.|0	LCK|LCK	32517858|32517858	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	9.291000|9.291000	0.96070|0.96070	2.792000|2.792000	0.96026|0.96026	0.555000|0.555000	0.69702|0.69702	.|GGG		0.562	LCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019616.4	NM_005356	Intron	5	207	0	0	0	1.23904e-05	0	5	207				
PPT1	5538	broad.mit.edu	37	1	40562846	40562846	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:40562846C>G	ENST00000433473.3	-	1	529	c.65G>C	c.(64-66)cGg>cCg	p.R22P	PPT1_ENST00000449045.2_Missense_Mutation_p.R22P	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	22					adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)	p.R22P(1)		endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGCAGCGCCCGAGAAGCGCA	0.632																																							uc001cfb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(64-66)CGG>CCG		palmitoyl-protein thioesterase 1 isoform 1							64.0	76.0	72.0					1																	40562846		2203	4299	6502	SO:0001583	missense	5538				brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity	g.chr1:40562846C>G	U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495	ENST00000433473.3:c.65G>C	1.37:g.40562846C>G	ENSP00000394863:p.Arg22Pro					PPT1_uc010ojg.1_Missense_Mutation_p.R22P|PPT1_uc009vwa.2_RNA	p.R22P	NM_000310	NP_000301	P50897	PPT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	297	-	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	22					B4DY24|Q6FGQ4	Missense_Mutation	SNP	ENST00000433473.3	37	c.65G>C	CCDS447.1	.	.	.	.	.	.	.	.	.	.	C	9.273	1.046180	0.19748	.	.	ENSG00000131238	ENST00000433473;ENST00000449045;ENST00000372779	D;D;D	0.96396	-4.0;-3.52;-3.22	3.88	-4.03	0.04021	.	1.842970	0.02156	N	0.058413	D	0.95522	0.8545	L	0.27053	0.805	0.09310	N	0.999996	D;B	0.89917	1.0;0.0	D;B	0.79108	0.992;0.0	D	0.88735	0.3239	10	0.26408	T	0.33	5.6848	7.639	0.28282	0.3437:0.3044:0.3519:0.0	.	22;22	P50897-2;P50897	.;PPT1_HUMAN	P	22	ENSP00000394863:R22P;ENSP00000392293:R22P;ENSP00000361865:R22P	ENSP00000361865:R22P	R	-	2	0	PPT1	40335433	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.431000	0.06965	-0.787000	0.04510	-0.175000	0.13238	CGG		0.632	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310		4	163	0	0	0	0.00024832	0	4	163				
HIVEP3	59269	broad.mit.edu	37	1	41979091	41979091	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:41979091T>C	ENST00000372583.1	-	8	6686	c.5801A>G	c.(5800-5802)cAg>cGg	p.Q1934R	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.Q1934R|HIVEP3_ENST00000429157.2_Missense_Mutation_p.Q1934R|HIVEP3_ENST00000372584.1_Missense_Mutation_p.Q1934R	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1934	Ser-rich.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q1934R(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGGCATGCTCTGGCTGGACAT	0.662																																							uc001cgz.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(5800-5802)CAG>CGG		human immunodeficiency virus type I enhancer							18.0	21.0	20.0					1																	41979091		2146	4204	6350	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:41979091T>C	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.5801A>G	1.37:g.41979091T>C	ENSP00000361664:p.Gln1934Arg					HIVEP3_uc001cha.3_Missense_Mutation_p.Q1934R|HIVEP3_uc001cgy.2_RNA	p.Q1934R	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN			8	7014	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	1934			Ser-rich.		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.5801A>G	CCDS463.1	.	.	.	.	.	.	.	.	.	.	T	3.297	-0.143791	0.06627	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.05996	3.36;3.36;3.36;3.36	5.22	1.26	0.21427	.	0.317943	0.22950	N	0.053676	T	0.02888	0.0086	N	0.17082	0.46	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.46925	-0.9156	10	0.07030	T	0.85	-1.5134	5.3748	0.16160	0.0:0.1593:0.1474:0.6933	.	1934;1934	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	R	1934	ENSP00000361665:Q1934R;ENSP00000361664:Q1934R;ENSP00000247584:Q1934R;ENSP00000410828:Q1934R	ENSP00000247584:Q1934R	Q	-	2	0	HIVEP3	41751678	0.985000	0.35326	0.657000	0.29651	0.448000	0.32197	0.618000	0.24373	0.362000	0.24319	0.533000	0.62120	CAG		0.662	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		11	7	0	0	0	6.40141e-05	0	11	7				
TIE1	7075	broad.mit.edu	37	1	43778157	43778157	+	Silent	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:43778157T>A	ENST00000372476.3	+	12	1891	c.1812T>A	c.(1810-1812)acT>acA	p.T604T	TIE1_ENST00000433781.2_Silent_p.T249T	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	604	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T604T(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGCCCGCACTGCCCTCCTGA	0.716																																							uc001ciu.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(1810-1812)ACT>ACA		tyrosine kinase with immunoglobulin-like and							37.0	36.0	36.0					1																	43778157		2202	4300	6502	SO:0001819	synonymous_variant	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43778157T>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1812T>A	1.37:g.43778157T>A						TIE1_uc010okd.1_Silent_p.T604T|TIE1_uc010oke.1_Silent_p.T559T|TIE1_uc009vwq.2_Silent_p.T560T|TIE1_uc010okf.1_Silent_p.T249T|TIE1_uc010okg.1_Silent_p.T249T	p.T604T	NM_005424	NP_005415	P35590	TIE1_HUMAN			12	1891	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	604			Fibronectin type-III 2.|Extracellular (Potential).		B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	c.1812T>A	CCDS482.1																																																																																				0.716	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		9	19	0	0	0	0.000274275	0	9	19				
MPL	4352	broad.mit.edu	37	1	43812251	43812251	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:43812251G>C	ENST00000372470.3	+	7	1158	c.1116G>C	c.(1114-1116)ccG>ccC	p.P372P	MPL_ENST00000413998.2_Silent_p.P372P	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	372					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	CCACAGCCCCGGGTACTGTTC	0.512			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	NSCLC(52;534 1204 10016 41452 44427)	uc001ciw.2		NA	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		0				haematopoietic_and_lymphoid_tissue(361)|upper_aerodigestive_tract(1)|pancreas(1)	363						c.(1114-1116)CCG>CCC		myeloproliferative leukemia virus oncogene							125.0	127.0	126.0					1																	43812251		2203	4300	6503	SO:0001819	synonymous_variant	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43812251G>C	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1116G>C	1.37:g.43812251G>C						MPL_uc001civ.2_Silent_p.P372P|MPL_uc009vwr.2_Silent_p.P365P	p.P372P	NM_005373	NP_005364	P40238	TPOR_HUMAN			7	1161	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	372			Extracellular (Potential).		Q5JUZ0	Silent	SNP	ENST00000372470.3	37	c.1116G>C	CCDS483.1																																																																																				0.512	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373		5	174	0	0	0	1.23904e-05	0	5	174				
DPH2	1802	broad.mit.edu	37	1	44437603	44437603	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:44437603G>C	ENST00000255108.3	+	4	1201	c.1029G>C	c.(1027-1029)ctG>ctC	p.L343L	ATP6V0B_ENST00000472174.2_5'Flank|DPH2_ENST00000412950.2_Silent_p.L208L|DPH2_ENST00000396758.2_Intron	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	343					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)		p.L343L(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCTGTCCTCTGGGTGCTCTAG	0.607																																							uc001ckz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1027-1029)CTG>CTC		diphthamide biosynthesis protein 2 isoform a							101.0	94.0	97.0					1																	44437603		2203	4300	6503	SO:0001819	synonymous_variant	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44437603G>C	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.1029G>C	1.37:g.44437603G>C						DPH2_uc001cla.2_Intron|DPH2_uc010okk.1_Silent_p.L208L|DPH2_uc001clb.2_Silent_p.L267L|ATP6V0B_uc001clc.2_5'Flank|ATP6V0B_uc001cld.2_5'Flank|ATP6V0B_uc001cle.2_5'Flank	p.L343L	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN			4	1224	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	343					A8MVC9|B2RDE3|B4DNI8|O60623	Silent	SNP	ENST00000255108.3	37	c.1029G>C	CCDS504.1																																																																																				0.607	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		5	149	0	0	0	8.12818e-05	0	5	149				
EIF2B3	8891	broad.mit.edu	37	1	45340362	45340362	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:45340362G>C	ENST00000360403.2	-	10	1316	c.1190C>G	c.(1189-1191)aCt>aGt	p.T397S	EIF2B3_ENST00000372183.3_Missense_Mutation_p.T397S	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	397					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	guanyl-nucleotide exchange factor activity (GO:0005085)|nucleotidyltransferase activity (GO:0016779)|translation initiation factor activity (GO:0003743)	p.T397S(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TTCCTCCACAGTGACTGAGTT	0.398																																					Colon(26;357 658 2581 11857 12657)	Colon(26;357 658 2581 11857 12657)	uc001cmt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1189-1191)ACT>AGT		eukaryotic translation initiation factor 2B,							142.0	130.0	134.0					1																	45340362		2203	4300	6503	SO:0001583	missense	8891				negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity	g.chr1:45340362G>C	AF257077	CCDS517.1, CCDS53313.1, CCDS72775.1	1p34.1	2008-02-05	2002-08-29		ENSG00000070785	ENSG00000070785			3259	protein-coding gene	gene with protein product		606273	"""eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD)"""			10900014	Standard	NM_020365		Approved	EIF2Bgamma, EIF-2B	uc001cmt.3	Q9NR50	OTTHUMG00000008585	ENST00000360403.2:c.1190C>G	1.37:g.45340362G>C	ENSP00000353575:p.Thr397Ser					EIF2B3_uc001cmu.1_Missense_Mutation_p.T397S|EIF2B3_uc001cmv.1_Missense_Mutation_p.T371S|EIF2B3_uc001cmw.2_Missense_Mutation_p.T397S	p.T397S	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN			10	1317	-	Acute lymphoblastic leukemia(166;0.155)		397					B2RBH8|D3DPZ2|Q5QP89|Q5QP90|Q8NDB5|Q8WV57|Q9H850	Missense_Mutation	SNP	ENST00000360403.2	37	c.1190C>G	CCDS517.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.44|15.44	2.833652|2.833652	0.50951|0.50951	.|.	.|.	ENSG00000070785|ENSG00000070785	ENST00000439363|ENST00000360403;ENST00000372183	.|T;D	.|0.90261	.|0.54;-2.64	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.093572	.|0.64402	.|D	.|0.000001	D|D	0.87390|0.87390	0.6165|0.6165	L|L	0.52206|0.52206	1.635|1.635	0.49582|0.49582	D|D	0.9998|0.9998	.|B;B;B	.|0.31318	.|0.112;0.319;0.013	.|B;B;B	.|0.33254	.|0.126;0.16;0.017	D|D	0.83722|0.83722	0.0193|0.0193	5|10	.|0.12103	.|T	.|0.63	-19.4684|-19.4684	15.7562|15.7562	0.78030|0.78030	0.0:0.1365:0.8635:0.0|0.0:0.1365:0.8635:0.0	.|.	.|397;397;397	.|Q9NR50-2;Q9NR50-3;Q9NR50	.|.;.;EI2BG_HUMAN	V|S	218|397	.|ENSP00000353575:T397S;ENSP00000361257:T397S	.|ENSP00000353575:T397S	L|T	-|-	1|2	2|0	EIF2B3|EIF2B3	45112949|45112949	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.992000|0.992000	0.81027|0.81027	3.805000|3.805000	0.55575|0.55575	2.603000|2.603000	0.88011|0.88011	0.655000|0.655000	0.94253|0.94253	CTG|ACT		0.398	EIF2B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023724.1	NM_020365		50	74	0	0	0	0.000147903	0	50	74				
MAST2	23139	broad.mit.edu	37	1	46487708	46487709	+	Missense_Mutation	DNP	CC	CC	GA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:46487708_46487709CC>GA	ENST00000361297.2	+	12	1660_1661	c.1377_1378CC>GA	c.(1375-1380)ccCCgc>ccGAgc	p.R460S	MAST2_ENST00000372009.2_Missense_Mutation_p.R390S	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2									p.R460S(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GTGACATTCCCCGCTACATCGT	0.559																																							uc001cov.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(3)|stomach(2)|breast(1)	11						c.(1375-1380)CCCCGC>CCGAGC		microtubule associated serine/threonine kinase																																				SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46487708_46487709CC>GA	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	Exception_encountered	1.37:g.46487708_46487709delinsGA	ENSP00000354671:p.Arg460Ser					MAST2_uc001cow.2_Missense_Mutation_p.R460S|MAST2_uc001coy.1_Missense_Mutation_p.R134S|MAST2_uc001coz.1_Missense_Mutation_p.R345S|MAST2_uc009vya.2_Missense_Mutation_p.R382S|MAST2_uc001cpa.2_RNA	p.R460S	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN			12	1660_1661	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		460						Missense_Mutation	DNP	ENST00000361297.2	37	c.1377_1378CC>GA	CCDS41326.1																																																																																				0.559	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		4	101	0	0	0	6.4e-05	0	4	101				
CYP4A11	1579	broad.mit.edu	37	1	47398483	47398483	+	Silent	SNP	C	C	G	rs9333059	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:47398483C>G	ENST00000310638.4	-	11	1345	c.1314G>C	c.(1312-1314)ccG>ccC	p.P438P	CYP4A11_ENST00000371905.1_Silent_p.P438P|CYP4A11_ENST00000371904.4_Silent_p.P439P|CYP4A11_ENST00000462347.1_Silent_p.P340P|CYP4A11_ENST00000496519.1_5'Flank	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	438					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	GAGCAGAACCCGGTGCAAAAC	0.542																																							uc001cqp.3		NA																	0				ovary(2)|skin(2)	4						c.(1312-1314)CCG>CCC		cytochrome P450, family 4, subfamily A,	NADH(DB00157)						286.0	303.0	297.0					1																	47398483		2203	4300	6503	SO:0001819	synonymous_variant	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47398483C>G	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.1314G>C	1.37:g.47398483C>G						CYP4A11_uc001cqq.2_Silent_p.P438P	p.P438P	NM_000778	NP_000769	Q02928	CP4AB_HUMAN			11	1365	-			438					Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Silent	SNP	ENST00000310638.4	37	c.1314G>C	CCDS543.1																																																																																				0.542	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		7	249	0	0	0	0.000157383	0	7	249				
FGGY	55277	broad.mit.edu	37	1	59787238	59787238	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:59787238A>T	ENST00000303721.7	+	2	191	c.17A>T	c.(16-18)cAg>cTg	p.Q6L	FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371218.4_Missense_Mutation_p.Q6L|FGGY_ENST00000371212.1_Missense_Mutation_p.Q6L	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	6					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.Q6L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GGTGGAGAACAGAAACCAGAG	0.493																																							uc001czi.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(16-18)CAG>CTG		FGGY carbohydrate kinase domain containing							81.0	76.0	78.0					1																	59787238		1568	3582	5150	SO:0001583	missense	55277				carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:59787238A>T		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.17A>T	1.37:g.59787238A>T	ENSP00000305922:p.Gln6Leu					FGGY_uc001czg.2_5'UTR|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.Q6L|FGGY_uc001czj.3_Missense_Mutation_p.Q6L|FGGY_uc001czk.3_Intron|FGGY_uc001czl.3_Missense_Mutation_p.Q6L	p.Q6L	NM_018291	NP_060761	Q96C11	FGGY_HUMAN			2	229	+	all_cancers(7;7.36e-05)		6					B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	c.17A>T	CCDS611.2	.	.	.	.	.	.	.	.	.	.	A	12.83	2.055482	0.36277	.	.	ENSG00000172456	ENST00000413489;ENST00000371218;ENST00000303721;ENST00000371212	T;T;T;T	0.30448	1.53;2.92;2.92;1.88	5.07	3.93	0.45458	.	0.672902	0.13863	N	0.357512	T	0.30135	0.0755	L	0.60455	1.87	0.80722	D	1	B;B;B;B	0.19200	0.034;0.0;0.004;0.004	B;B;B;B	0.21708	0.036;0.001;0.008;0.008	T	0.03534	-1.1027	9	.	.	.	-2.0872	9.963	0.41708	0.7299:0.0:0.0:0.2701	.	6;6;6;6	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	L	6	ENSP00000406607:Q6L;ENSP00000360262:Q6L;ENSP00000305922:Q6L;ENSP00000360256:Q6L	.	Q	+	2	0	FGGY	59559826	0.994000	0.37717	0.368000	0.25939	0.015000	0.08874	1.677000	0.37576	0.928000	0.37168	-0.336000	0.08194	CAG		0.493	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411		17	52	0	0	0	0.000229342	0	17	52				
DOCK7	85440	broad.mit.edu	37	1	62960067	62960067	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:62960067G>T	ENST00000340370.5	-	39	5020	c.5003C>A	c.(5002-5004)tCa>tAa	p.S1668*	DOCK7_ENST00000251157.5_Nonsense_Mutation_p.S1690*	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1699					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GCTTCGTTCTGAGTGCTTGCC	0.463																																							uc001daq.2		NA																	0				ovary(2)	2						c.(5068-5070)TCA>TAA		dedicator of cytokinesis 7							119.0	88.0	98.0					1																	62960067		2203	4300	6503	SO:0001587	stop_gained	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:62960067G>T		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.5003C>A	1.37:g.62960067G>T	ENSP00000340742:p.Ser1668*					DOCK7_uc001dan.2_Nonsense_Mutation_p.S1551*|DOCK7_uc001dao.2_Nonsense_Mutation_p.S1551*|DOCK7_uc001dap.2_Nonsense_Mutation_p.S1668*|DOCK7_uc001dam.2_Nonsense_Mutation_p.S870*|DOCK7_uc010oov.1_Nonsense_Mutation_p.S429*	p.S1690*	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			40	5103	-			1699			DHR-2.		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Nonsense_Mutation	SNP	ENST00000340370.5	37	c.5069C>A	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	G	44	11.089922	0.99514	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2704	0.98474	0.0:0.0:1.0:0.0	.	.	.	.	X	1699;1690;1668;429	.	ENSP00000251157:S1690X	S	-	2	0	DOCK7	62732655	1.000000	0.71417	0.981000	0.43875	0.510000	0.34073	9.869000	0.99810	2.793000	0.96121	0.591000	0.81541	TCA		0.463	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		14	705	1	0	0.000308642	0.000308642	0.00625466	14	705				
DOCK7	85440	broad.mit.edu	37	1	63008322	63008322	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:63008322C>G	ENST00000340370.5	-	24	2926	c.2909G>C	c.(2908-2910)cGg>cCg	p.R970P	DOCK7_ENST00000251157.5_Missense_Mutation_p.R1001P	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1001					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.R970Q(2)|p.R970P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGCTGATTCCCGAACGCTGCC	0.378																																							uc001daq.2		NA																	3	Substitution - Missense(3)		lung(1)|endometrium(1)|kidney(1)	ovary(2)	2						c.(3001-3003)CGG>CCG		dedicator of cytokinesis 7							74.0	79.0	77.0					1																	63008322		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63008322C>G		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.2909G>C	1.37:g.63008322C>G	ENSP00000340742:p.Arg970Pro					DOCK7_uc001dan.2_Missense_Mutation_p.R862P|DOCK7_uc001dao.2_Missense_Mutation_p.R862P|DOCK7_uc001dap.2_Missense_Mutation_p.R970P|DOCK7_uc001dam.2_Missense_Mutation_p.R181P	p.R1001P	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			25	3036	-			1001					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.3002G>C	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.880847	0.91740	.	.	ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370	T;T	0.27402	1.67;1.67	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	M	0.81942	2.565	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	0.995;1.0;1.0;0.997;0.995	T	0.64433	-0.6409	10	0.72032	D	0.01	.	19.6597	0.95861	0.0:1.0:0.0:0.0	.	1001;970;970;970;1001	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6	.;.;.;.;.	P	1001;1001;970	ENSP00000251157:R1001P;ENSP00000340742:R970P	ENSP00000251157:R1001P	R	-	2	0	DOCK7	62780910	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.744000	0.85034	2.708000	0.92522	0.650000	0.86243	CGG		0.378	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		4	94	0	0	0	1.23904e-05	0	4	94				
IL12RB2	3595	broad.mit.edu	37	1	67852300	67852300	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:67852300T>A	ENST00000262345.1	+	14	2534	c.1894T>A	c.(1894-1896)Tgc>Agc	p.C632S	IL12RB2_ENST00000465396.1_3'UTR|IL12RB2_ENST00000371000.1_Missense_Mutation_p.C632S|IL12RB2_ENST00000541374.1_Missense_Mutation_p.C632S|IL12RB2_ENST00000544434.1_Missense_Mutation_p.C546S	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	632					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)	p.C632S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ACCAAGCATTTGCATTGCTAT	0.403																																							uc001ddu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1894-1896)TGC>AGC		interleukin 12 receptor, beta 2 precursor							230.0	198.0	209.0					1																	67852300		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67852300T>A	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1894T>A	1.37:g.67852300T>A	ENSP00000262345:p.Cys632Ser					IL12RB2_uc010oqi.1_Missense_Mutation_p.C632S|IL12RB2_uc010oqj.1_Missense_Mutation_p.C632S|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.C546S|IL12RB2_uc010oqm.1_Intron|IL12RB2_uc010oqn.1_Intron	p.C632S	NM_001559	NP_001550	Q99665	I12R2_HUMAN			14	2534	+			632			Helical; (Potential).		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.1894T>A	CCDS638.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.897569	0.33535	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.45668	0.89;0.95;0.95;1.88	4.33	4.33	0.51752	.	0.544944	0.21813	N	0.068729	T	0.18173	0.0436	L	0.50919	1.6	0.18873	N	0.999982	P;B;B	0.37370	0.592;0.053;0.031	B;B;B	0.37015	0.239;0.008;0.006	T	0.06734	-1.0810	10	0.19147	T	0.46	-17.9195	10.4734	0.44650	0.0:0.0:0.0:1.0	.	546;632;632	F5H7L6;Q99665-2;Q99665	.;.;I12R2_HUMAN	S	632;632;632;546	ENSP00000262345:C632S;ENSP00000360039:C632S;ENSP00000445276:C632S;ENSP00000442443:C546S	ENSP00000262345:C632S	C	+	1	0	IL12RB2	67624888	0.196000	0.23350	0.930000	0.37139	0.934000	0.57294	1.849000	0.39318	1.908000	0.55244	0.450000	0.29827	TGC		0.403	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		56	36	0	0	0	0.000147903	0	56	36				
SLC44A5	204962	broad.mit.edu	37	1	75684360	75684360	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:75684360C>T	ENST00000370855.5	-	17	1457	c.1344G>A	c.(1342-1344)ttG>ttA	p.L448L	SLC44A5_ENST00000535611.1_Silent_p.L318L|SLC44A5_ENST00000370859.3_Silent_p.L448L	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	448					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L448L(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ACTGATGGTACAAGCTCTTTC	0.418																																							uc001dgu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(1342-1344)TTG>TTA		solute carrier family 44, member 5 isoform A							89.0	85.0	86.0					1																	75684360		2203	4300	6503	SO:0001819	synonymous_variant	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75684360C>T	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1344G>A	1.37:g.75684360C>T						SLC44A5_uc001dgt.2_Silent_p.L448L|SLC44A5_uc001dgs.2_Silent_p.L406L|SLC44A5_uc001dgr.2_Silent_p.L406L|SLC44A5_uc010oqz.1_Silent_p.L487L|SLC44A5_uc010ora.1_Silent_p.L442L|SLC44A5_uc010orb.1_Silent_p.L318L	p.L448L	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			17	1488	-			448			Cytoplasmic (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Silent	SNP	ENST00000370855.5	37	c.1344G>A	CCDS667.1																																																																																				0.418	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		20	12	0	0	0	0.000229342	0	20	12				
NEXN	91624	broad.mit.edu	37	1	78383891	78383891	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:78383891G>A	ENST00000334785.7	+	5	564	c.380G>A	c.(379-381)cGc>cAc	p.R127H	NEXN_ENST00000457030.1_Missense_Mutation_p.R127H|NEXN_ENST00000330010.8_Missense_Mutation_p.R63H|NEXN_ENST00000294624.8_Missense_Mutation_p.R127H	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)									p.R127H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAACGAAAACGCAGAATTGAG	0.368																																							uc001dic.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(379-381)CGC>CAC		nexilin (F actin binding protein)							133.0	130.0	131.0					1																	78383891		1904	4118	6022	SO:0001583	missense	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78383891G>A	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.380G>A	1.37:g.78383891G>A	ENSP00000333938:p.Arg127His					NEXN_uc001dia.3_Missense_Mutation_p.R127H|NEXN_uc009wcb.1_Missense_Mutation_p.R63H|NEXN_uc001dib.3_Missense_Mutation_p.R63H|NEXN_uc001did.1_Missense_Mutation_p.R51H|NEXN_uc001dif.1_Missense_Mutation_p.R19H	p.R127H	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	5	677	+			127			Glu-rich.			Missense_Mutation	SNP	ENST00000334785.7	37	c.380G>A	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.354482|4.354482	0.82243|0.82243	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000342754|ENST00000401035;ENST00000457030;ENST00000330010;ENST00000294624;ENST00000334785;ENST00000440324	.|T;T;T;T;T;T	.|0.68181	.|-0.31;0.14;-0.14;-0.31;0.15;-0.27	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.53938	.|D	.|0.000051	T|T	0.78477|0.78477	0.4289|0.4289	M|M	0.72118|0.72118	2.19|2.19	0.39047|0.39047	D|D	0.960251|0.960251	.|D;D;D;D	.|0.89917	.|0.999;1.0;1.0;0.997	.|P;D;D;P	.|0.67103	.|0.855;0.949;0.935;0.855	T|T	0.79591|0.79591	-0.1740|-0.1740	5|10	.|0.87932	.|D	.|0	-3.9348|-3.9348	19.2924|19.2924	0.94105|0.94105	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|63;127;127;63	.|D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7	.|.;.;NEXN_HUMAN;.	T|H	27|63;127;63;127;127;127	.|ENSP00000383814:R63H;ENSP00000388048:R127H;ENSP00000327363:R63H;ENSP00000294624:R127H;ENSP00000333938:R127H;ENSP00000411902:R127H	.|ENSP00000294624:R127H	A|R	+|+	1|2	0|0	NEXN|NEXN	78156479|78156479	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	6.390000|6.390000	0.73204|0.73204	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GCA|CGC		0.368	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573		34	53	0	0	0	8.91981e-05	0	34	53				
ELTD1	64123	broad.mit.edu	37	1	79404935	79404935	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:79404935T>C	ENST00000370742.3	-	4	397	c.334A>G	c.(334-336)Aat>Gat	p.N112D		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	112					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.N112D(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CAGTTTGCATTCACATTTTCT	0.249																																							uc001diq.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(334-336)AAT>GAT		EGF, latrophilin and seven transmembrane domain							39.0	39.0	39.0					1																	79404935		1782	4028	5810	SO:0001583	missense	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79404935T>C	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.334A>G	1.37:g.79404935T>C	ENSP00000359778:p.Asn112Asp						p.N112D	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	4	490	-			112			Extracellular (Potential).		B1AR71|Q5KU34	Missense_Mutation	SNP	ENST00000370742.3	37	c.334A>G	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	T	12.04	1.817591	0.32145	.	.	ENSG00000162618	ENST00000370742	T	0.36878	1.23	6.07	3.75	0.43078	.	0.290888	0.42420	N	0.000713	T	0.08044	0.0201	N	0.22421	0.69	0.26907	N	0.966985	B	0.02656	0.0	B	0.04013	0.001	T	0.33214	-0.9877	9	.	.	.	.	8.2179	0.31524	0.0:0.1624:0.0:0.8376	.	112	Q9HBW9	ELTD1_HUMAN	D	112	ENSP00000359778:N112D	.	N	-	1	0	ELTD1	79177523	0.012000	0.17670	0.438000	0.26821	0.925000	0.55904	0.727000	0.25999	0.534000	0.28695	0.477000	0.44152	AAT		0.249	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159		6	64	0	0	0	0.000157383	0	6	64				
SSX2IP	117178	broad.mit.edu	37	1	85124125	85124125	+	Silent	SNP	G	G	A	rs374854979		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:85124125G>A	ENST00000342203.3	-	9	1217	c.954C>T	c.(952-954)gcC>gcT	p.A318A	SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Silent_p.A318A|SSX2IP_ENST00000605755.1_Silent_p.A291A|SSX2IP_ENST00000437941.2_Silent_p.A291A	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	318					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.A318A(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTAGTTCCCCGGCATCTTCTT	0.443																																							uc001dkh.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(952-954)GCC>GCT		synovial sarcoma, X breakpoint 2 interacting		G	,,,,	1,4405	2.1+/-5.4	0,1,2202	100.0	86.0	91.0		954,873,873,954,954	-1.6	0.9	1		91	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SSX2IP	NM_001166293.1,NM_001166294.1,NM_001166295.1,NM_001166417.1,NM_014021.3	,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,	318/615,291/588,291/588,318/615,318/615	85124125	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	117178				cell adhesion	nucleus|protein complex		g.chr1:85124125G>A		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.954C>T	1.37:g.85124125G>A						SSX2IP_uc001dkf.2_Silent_p.A291A|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Silent_p.A291A|SSX2IP_uc001dki.2_Silent_p.A318A|SSX2IP_uc010osa.1_Silent_p.A291A|SSX2IP_uc001dkj.2_Silent_p.A318A|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Silent_p.A314A	p.A318A	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	10	1229	-			318					A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Silent	SNP	ENST00000342203.3	37	c.954C>T	CCDS699.1																																																																																				0.443	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	NM_014021		22	14	0	0	0	0.000229342	0	22	14				
PKN2	5586	broad.mit.edu	37	1	89273449	89273449	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:89273449A>T	ENST00000370521.3	+	15	2452	c.2093A>T	c.(2092-2094)gAa>gTa	p.E698V	PKN2_ENST00000370513.5_Missense_Mutation_p.E650V|PKN2_ENST00000544045.1_Missense_Mutation_p.E372V|PKN2_ENST00000370505.3_Missense_Mutation_p.E541V	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	698	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.E698V(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GCTCGAGATGAAGTAGACAGG	0.259																																							uc001dmn.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|skin(1)	3						c.(2092-2094)GAA>GTA		protein kinase N2							79.0	79.0	79.0					1																	89273449		1796	4054	5850	SO:0001583	missense	5586				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	g.chr1:89273449A>T	U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2093A>T	1.37:g.89273449A>T	ENSP00000359552:p.Glu698Val					PKN2_uc010osp.1_Missense_Mutation_p.E682V|PKN2_uc010osq.1_Missense_Mutation_p.E541V|PKN2_uc009wcv.2_Missense_Mutation_p.E650V|PKN2_uc010osr.1_Missense_Mutation_p.E363V	p.E698V	NM_006256	NP_006247	Q16513	PKN2_HUMAN		all cancers(265;0.0136)|Epithelial(280;0.0301)	15	2435	+		Lung NSC(277;0.123)	698			Protein kinase.		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	ENST00000370521.3	37	c.2093A>T	CCDS714.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.177468	0.78564	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.54	5.54	0.83059	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	0.46442	U	0.000300	T	0.72518	0.3470	L	0.48986	1.54	0.80722	D	1	D;D;D	0.63880	0.993;0.985;0.957	D;D;P	0.72338	0.977;0.915;0.855	T	0.76825	-0.2816	10	0.87932	D	0	.	15.6811	0.77371	1.0:0.0:0.0:0.0	.	682;650;698	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	V	698;541;650;372	ENSP00000359552:E698V;ENSP00000359536:E541V;ENSP00000359544:E650V;ENSP00000439643:E372V	ENSP00000359536:E541V	E	+	2	0	PKN2	89046037	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.958000	0.93099	2.106000	0.64143	0.477000	0.44152	GAA		0.259	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027828.3	NM_006256		71	60	0	0	0	0.000147903	0	71	60				
BARHL2	343472	broad.mit.edu	37	1	91180292	91180292	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:91180292C>G	ENST00000370445.4	-	2	688	c.647G>C	c.(646-648)cGg>cCg	p.R216P		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	216					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.R216P(1)		cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CGTAATCTCCCGGTCTCCTTC	0.542																																					GBM(199;3561 4100 22440)	GBM(199;3561 4100 22440)	uc001dns.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(646-648)CGG>CCG		BarH-like homeobox 2							114.0	117.0	116.0					1																	91180292		2203	4300	6503	SO:0001583	missense	343472					nucleus	sequence-specific DNA binding	g.chr1:91180292C>G	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.647G>C	1.37:g.91180292C>G	ENSP00000359474:p.Arg216Pro						p.R216P	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	2	689	-		all_lung(203;0.0263)|Lung SC(238;0.128)	216					A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	c.647G>C	CCDS730.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.941031	0.73557	.	.	ENSG00000143032	ENST00000370445	D	0.91068	-2.78	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	D	0.91002	0.7170	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.90902	0.4769	10	0.41790	T	0.15	.	17.3821	0.87407	0.0:1.0:0.0:0.0	.	216	Q9NY43	BARH2_HUMAN	P	216	ENSP00000359474:R216P	ENSP00000359474:R216P	R	-	2	0	BARHL2	90952880	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.575000	0.82447	2.429000	0.82318	0.561000	0.74099	CGG		0.542	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			8	221	0	0	0	0.000157383	0	8	221				
CDC7	8317	broad.mit.edu	37	1	91967324	91967325	+	Missense_Mutation	DNP	CC	CC	GA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:91967324_91967325CC>GA	ENST00000428239.1	+	2	310_311	c.51_52CC>GA	c.(49-54)ccCCag>ccGAag	p.Q18K	CDC7_ENST00000234626.6_Missense_Mutation_p.Q18K|CDC7_ENST00000430031.2_Missense_Mutation_p.Q18K|CDC7_ENST00000497611.1_3'UTR	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	18					cell cycle phase transition (GO:0044770)|cell division (GO:0051301)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P17P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CTTTTTCTCCCCAGCGTGACCG	0.436																																							uc001doe.2		NA																	1	Substitution - coding silent(1)		lung(1)	stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	5						c.(49-54)CCCCAG>CCGAAG		cell division cycle 7																																				SO:0001583	missense	8317				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:91967324_91967325CC>GA	AF015592	CCDS734.1	1p22	2013-01-17	2013-01-17	2003-07-23	ENSG00000097046	ENSG00000097046			1745	protein-coding gene	gene with protein product		603311	"""CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1"", ""CDC7 cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 (S. cerevisiae)"", ""cell division cycle 7 homolog (S. cerevisiae)"""	CDC7L1		9405610, 9250678	Standard	NM_003503		Approved	Hsk1, huCdc7, HsCdc7	uc001dof.3	O00311	OTTHUMG00000047810	Exception_encountered	1.37:g.91967324_91967325delinsGA	ENSP00000393139:p.Gln18Lys					CDC7_uc001dof.2_Missense_Mutation_p.Q18K|CDC7_uc010osw.1_Missense_Mutation_p.Q18K|CDC7_uc009wdc.2_Missense_Mutation_p.Q18K	p.Q18K	NM_003503	NP_003494	O00311	CDC7_HUMAN		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)	2	216_217	+		all_lung(203;0.0165)|Lung NSC(277;0.0562)	18					D3DT31|O00558|Q5T5U5	Missense_Mutation	DNP	ENST00000428239.1	37	c.51_52CC>GA	CCDS734.1																																																																																				0.436	CDC7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027928.1	NM_003503		7	486	0	0	0	6.4e-05	0	7	486				
EVI5	7813	broad.mit.edu	37	1	93202138	93202138	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:93202138C>G	ENST00000370331.1	-	2	107	c.98G>C	c.(97-99)tGg>tCg	p.W33S	EVI5_ENST00000543509.1_Missense_Mutation_p.W33S|EVI5_ENST00000540033.1_Missense_Mutation_p.W33S	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	33	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.W33S(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		GTTCTTCACCCATGAGAGAGT	0.423																																							uc001dox.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(97-99)TGG>TCG		ecotropic viral integration site 5							296.0	260.0	272.0					1																	93202138		2203	4300	6503	SO:0001583	missense	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93202138C>G	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.98G>C	1.37:g.93202138C>G	ENSP00000359356:p.Trp33Ser					EVI5_uc010otf.1_Missense_Mutation_p.W33S	p.W33S	NM_005665	NP_005656	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	2	108	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	33			Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	c.98G>C	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433184	0.83776	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.05319	3.51;3.51;3.46	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.12050	0.0293	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	T	0.07597	-1.0764	10	0.54805	T	0.06	-3.8744	18.8141	0.92071	0.0:1.0:0.0:0.0	.	33;33	F5H4R0;O60447	.;EVI5_HUMAN	S	33	ENSP00000359356:W33S;ENSP00000440826:W33S;ENSP00000445019:W33S	ENSP00000359356:W33S	W	-	2	0	EVI5	92974726	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.461000	0.80834	2.456000	0.83038	0.305000	0.20034	TGG		0.423	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		5	168	0	0	0	0.000157383	0	5	168				
FNBP1L	54874	broad.mit.edu	37	1	94014920	94014920	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:94014920G>A	ENST00000271234.7	+	15	1739	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	FNBP1L_ENST00000370253.2_Missense_Mutation_p.E472K|FNBP1L_ENST00000604705.1_Missense_Mutation_p.E530K|FNBP1L_ENST00000370256.4_Missense_Mutation_p.E525K|FNBP1L_ENST00000260506.8_Missense_Mutation_p.E472K	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	530	Interaction with CDC42.|Interaction with DNM1.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.E472K(1)|p.E530K(1)		breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		GTTTGATGATGAATTTGAGGA	0.393																																							uc001dpw.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1414-1416)GAA>AAA		formin binding protein 1-like isoform 1							114.0	117.0	116.0					1																	94014920		2017	4190	6207	SO:0001583	missense	54874				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding	g.chr1:94014920G>A		CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"""chromosome 1 open reading frame 39"""	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.1588G>A	1.37:g.94014920G>A	ENSP00000271234:p.Glu530Lys					FNBP1L_uc001dpv.2_Missense_Mutation_p.E472K|FNBP1L_uc010otk.1_Missense_Mutation_p.E350K|FNBP1L_uc010otl.1_Missense_Mutation_p.E100K	p.E472K	NM_001024948	NP_001020119	Q5T0N5	FBP1L_HUMAN		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)	13	1414	+		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)	530			Interaction with DNM1.|Interaction with CDC42.		J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Missense_Mutation	SNP	ENST00000271234.7	37	c.1414G>A	CCDS53343.1	.	.	.	.	.	.	.	.	.	.	G	36	5.646308	0.96704	.	.	ENSG00000137942	ENST00000370256;ENST00000271234;ENST00000260506;ENST00000370253;ENST00000424449;ENST00000541733	T;T;T	0.57595	0.41;0.39;0.54	5.56	5.56	0.83823	.	1.272530	0.05933	N	0.635479	T	0.50343	0.1610	M	0.69823	2.125	0.80722	D	1	P;P;P;B	0.39480	0.675;0.518;0.527;0.142	B;B;B;B	0.39590	0.164;0.119;0.304;0.169	T	0.55661	-0.8106	10	0.33940	T	0.23	-29.0507	19.9029	0.96995	0.0:0.0:1.0:0.0	.	100;350;472;472	B4DKY5;B4DSI7;Q5T0N5-4;Q5T0N5-3	.;.;.;.	K	525;530;472;525;339;222	ENSP00000359278:E525K;ENSP00000271234:E530K;ENSP00000260506:E472K	ENSP00000260506:E472K	E	+	1	0	FNBP1L	93787508	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.813000	0.99286	2.776000	0.95493	0.650000	0.86243	GAA		0.393	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017737		113	39	0	0	0	0.000147903	0	113	39				
DNTTIP2	30836	broad.mit.edu	37	1	94342244	94342245	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:94342244_94342245CC>AA	ENST00000436063.2	-	2	1303_1304	c.1246_1247GG>TT	c.(1246-1248)GGg>TTg	p.G416L	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G416L(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		ATCTACATTCCCTTCACTGTTC	0.396																																							uc001dqf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1246-1248)GGG>TTG		deoxynucleotidyltransferase, terminal,																																				SO:0001583	missense	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94342244_94342245CC>AA	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1246_1247delinsAA	1.37:g.94342244_94342245delinsAA	ENSP00000411010:p.Gly416Leu					DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Missense_Mutation_p.G211L	p.G416L	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	2	1284_1285	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	416					Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	DNP	ENST00000436063.2	37	c.1246_1247GG>TT	CCDS44174.1																																																																																				0.396	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		18	683	0	0	0	6.4e-05	0	18	683				
ABCD3	5825	broad.mit.edu	37	1	94933551	94933551	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:94933551C>T	ENST00000370214.4	+	4	347	c.323C>T	c.(322-324)aCa>aTa	p.T108I	ABCD3_ENST00000315713.5_Missense_Mutation_p.T108I|ABCD3_ENST00000536817.1_Missense_Mutation_p.T35I|ABCD3_ENST00000394233.2_Missense_Mutation_p.T108I|ABCD3_ENST00000454898.2_Missense_Mutation_p.T132I	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	108	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.|Interaction with PEX19.|Targeting to peroxisomes.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)	p.T108I(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		CAAAATGGGACACTAATTGAA	0.313																																							uc001dqn.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(322-324)ACA>ATA		ATP-binding cassette, sub-family D, member 3							170.0	160.0	163.0					1																	94933551		2203	4299	6502	SO:0001583	missense	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94933551C>T	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.323C>T	1.37:g.94933551C>T	ENSP00000359233:p.Thr108Ile					ABCD3_uc001dqm.3_Missense_Mutation_p.T108I|ABCD3_uc010oto.1_Missense_Mutation_p.T132I|ABCD3_uc010otp.1_Missense_Mutation_p.T35I|ABCD3_uc009wdr.2_Missense_Mutation_p.T108I	p.T108I	NM_002858	NP_002849	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	4	425	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	108			ABC transmembrane type-1.|Targeting to peroxisomes.|Interaction with PEX19.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	c.323C>T	CCDS749.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528840	0.85706	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214;ENST00000315713	D;D;D;D;D	0.99663	-6.33;-6.33;-6.33;-6.33;-6.33	5.51	5.51	0.81932	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99687	0.9882	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;1.0;0.997;1.0	D	0.98066	1.0396	10	0.59425	D	0.04	-10.6396	19.4088	0.94660	0.0:1.0:0.0:0.0	.	132;108;108;108	E7EUE1;P28288-2;P28288;P28288-3	.;.;ABCD3_HUMAN;.	I	108;132;35;108;108	ENSP00000377780:T108I;ENSP00000403357:T132I;ENSP00000440692:T35I;ENSP00000359233:T108I;ENSP00000326880:T108I	ENSP00000326880:T108I	T	+	2	0	ABCD3	94706139	1.000000	0.71417	0.995000	0.50966	0.913000	0.54294	7.350000	0.79385	2.580000	0.87095	0.561000	0.74099	ACA		0.313	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1	NM_002858		18	108	0	0	0	0.000229342	0	18	108				
COL11A1	1301	broad.mit.edu	37	1	103483430	103483430	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:103483430C>G	ENST00000370096.3	-	11	1671	c.1359G>C	c.(1357-1359)atG>atC	p.M453I	COL11A1_ENST00000358392.2_Missense_Mutation_p.M465I|COL11A1_ENST00000512756.1_Missense_Mutation_p.M337I|COL11A1_ENST00000353414.4_Missense_Mutation_p.M414I	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	453	Collagen-like 1.|Triple-helical region (interrupted).				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.M465I(2)|p.M453I(2)		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)		CTGGAGGACCCATAATACCCT	0.413																																							uc001dul.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1357-1359)ATG>ATC		alpha 1 type XI collagen isoform A							99.0	102.0	101.0					1																	103483430		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103483430C>G	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.1359G>C	1.37:g.103483430C>G	ENSP00000359114:p.Met453Ile					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.M465I|COL11A1_uc001dun.2_Missense_Mutation_p.M414I|COL11A1_uc009weh.2_Missense_Mutation_p.M337I	p.M453I	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	11	1677	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	453			Triple-helical region (interrupted).		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1359G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942097	0.34283	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756;ENST00000427239	D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23	5.38	4.46	0.54185	.	0.149333	0.64402	D	0.000007	T	0.74450	0.3718	N	0.11201	0.11	0.32008	N	0.602414	B;B;B;B	0.20780	0.048;0.039;0.039;0.048	B;B;B;B	0.23018	0.029;0.017;0.025;0.043	T	0.64618	-0.6365	10	0.30854	T	0.27	.	6.4891	0.22105	0.162:0.701:0.0:0.137	.	337;414;465;453	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	I	453;465;414;337;465	ENSP00000359114:M453I;ENSP00000351163:M465I;ENSP00000302551:M414I;ENSP00000426533:M337I;ENSP00000408640:M465I	ENSP00000302551:M414I	M	-	3	0	COL11A1	103256018	0.999000	0.42202	1.000000	0.80357	0.975000	0.68041	0.451000	0.21779	2.673000	0.90976	0.650000	0.86243	ATG		0.413	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	156	0	0	0	3.59834e-05	0	5	156				
AMY2A	279	broad.mit.edu	37	1	104160136	104160136	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:104160136G>C	ENST00000414303.2	+	1	138	c.74G>C	c.(73-75)cGg>cCg	p.R25P		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	25					carbohydrate catabolic process (GO:0016052)|carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|calcium ion binding (GO:0005509)|chloride ion binding (GO:0031404)	p.R25L(1)		endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Icodextrin(DB00702)|Miglitol(DB00491)	CAACAAGGACGGACATCTATT	0.438																																							uc001dut.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(73-75)CGG>CCG		pancreatic amylase alpha 2A precursor	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)						140.0	116.0	124.0					1																	104160136		2201	4276	6477	SO:0001583	missense	279				carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding	g.chr1:104160136G>C	BC007060	CCDS783.1	1p21.1	2012-10-02	2007-05-03		ENSG00000243480	ENSG00000243480	3.2.1.1		477	protein-coding gene	gene with protein product		104650	"""amylase, alpha 2A; pancreatic"""	AMY2		3260028	Standard	NM_000699		Approved		uc001dut.3	P04746	OTTHUMG00000011023	ENST00000414303.2:c.74G>C	1.37:g.104160136G>C	ENSP00000397582:p.Arg25Pro					AMY2A_uc010ouq.1_Missense_Mutation_p.R25P	p.R25P	NM_000699	NP_000690	P04746	AMYP_HUMAN		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	1	138	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	25					B9EJG1|Q9UBH3	Missense_Mutation	SNP	ENST00000414303.2	37	c.74G>C	CCDS783.1	.	.	.	.	.	.	.	.	.	.	g	15.74	2.923194	0.52653	.	.	ENSG00000243480	ENST00000414303;ENST00000393932	.	.	.	3.22	3.22	0.36961	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.103907	0.64402	D	0.000006	T	0.75982	0.3924	M	0.90309	3.105	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.62435	0.843;0.902	T	0.82910	-0.0223	9	0.87932	D	0	.	14.5293	0.67912	0.0:0.0:1.0:0.0	.	25;25	B9EJG1;P04746	.;AMYP_HUMAN	P	25	.	ENSP00000377509:R25P	R	+	2	0	AMY2A	103961659	0.942000	0.31987	0.334000	0.25495	0.433000	0.31745	2.345000	0.44018	1.784000	0.52394	0.455000	0.32223	CGG		0.438	AMY2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030315.1	NM_000699		7	390	0	0	0	0.000442599	0	7	390				
C1orf194	127003	broad.mit.edu	37	1	109650640	109650640	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:109650640G>T	ENST00000369948.3	-	2	176	c.101C>A	c.(100-102)cCa>cAa	p.P34Q	C1orf194_ENST00000369945.3_Intron|C1orf194_ENST00000369949.4_Missense_Mutation_p.P22Q			Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194	34										large_intestine(2)|lung(2)|ovary(2)	6						AAGGTGTGTTGGGTTCTTATA	0.498																																							uc009wev.2		NA																	0				ovary(1)	1						c.(100-102)CCA>CAA		hypothetical protein LOC127003							187.0	174.0	178.0					1																	109650640		1568	3582	5150	SO:0001583	missense	127003							g.chr1:109650640G>T		CCDS41364.1	1p13.3	2011-03-31			ENSG00000179902	ENSG00000179902			32331	protein-coding gene	gene with protein product							Standard	NM_001122961		Approved		uc009wew.3	Q5T5A4	OTTHUMG00000011735	ENST00000369948.3:c.101C>A	1.37:g.109650640G>T	ENSP00000358964:p.Pro34Gln					C1orf194_uc001dwp.3_Intron|C1orf194_uc009wew.2_Missense_Mutation_p.P22Q	p.P34Q	NM_001122961	NP_001116433	Q5T5A4	CA194_HUMAN			2	169	-			34					Q5T5A3	Missense_Mutation	SNP	ENST00000369948.3	37	c.101C>A		.	.	.	.	.	.	.	.	.	.	g	16.24	3.067484	0.55539	.	.	ENSG00000179902	ENST00000369949;ENST00000369948	.	.	.	4.01	3.07	0.35406	.	0.085246	0.46145	N	0.000315	T	0.61776	0.2374	M	0.72894	2.215	0.80722	D	1	D;P	0.71674	0.998;0.77	D;B	0.71656	0.974;0.413	T	0.64728	-0.6339	9	0.54805	T	0.06	-12.0324	9.0636	0.36449	0.0:0.0:0.7802:0.2198	.	22;34	Q5T5A4-2;Q5T5A4	.;CA194_HUMAN	Q	22;34	.	ENSP00000358964:P34Q	P	-	2	0	C1orf194	109452163	0.998000	0.40836	0.940000	0.37924	0.942000	0.58702	3.382000	0.52463	1.024000	0.39682	0.473000	0.43528	CCA		0.498	C1orf194-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000032416.2	NM_001122961		9	172	1	0	6.40141e-05	6.40141e-05	0.00135931	9	172				
KCND3	3752	broad.mit.edu	37	1	112524907	112524907	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:112524907T>A	ENST00000315987.2	-	2	921	c.442A>T	c.(442-444)Atg>Ttg	p.M148L	KCND3_ENST00000369697.1_Missense_Mutation_p.M148L|KCND3_ENST00000302127.4_Missense_Mutation_p.M148L	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	148					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.M148L(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)	TTGTCGTCCATGAGCCGCTCG	0.632																																							uc001ebu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(442-444)ATG>TTG		potassium voltage-gated channel, Shal-related							61.0	57.0	58.0					1																	112524907		2203	4300	6503	SO:0001583	missense	3752					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	g.chr1:112524907T>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.442A>T	1.37:g.112524907T>A	ENSP00000319591:p.Met148Leu					KCND3_uc001ebv.1_Missense_Mutation_p.M148L	p.M148L	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	922	-		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)	148			Cytoplasmic (Potential).		O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	c.442A>T	CCDS843.1	.	.	.	.	.	.	.	.	.	.	T	2.637	-0.285120	0.05605	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.96168	-3.93;-3.93;-3.93	5.61	4.47	0.54385	.	0.143577	0.85682	D	0.000000	D	0.82416	0.5032	N	0.16266	0.395	0.47511	D	0.999447	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.75659	-0.3241	10	0.13470	T	0.59	.	12.5149	0.56026	0.0:0.0:0.1397:0.8603	.	148;148	Q14D71;Q9UK17	.;KCND3_HUMAN	L	148	ENSP00000358711:M148L;ENSP00000319591:M148L;ENSP00000306923:M148L	ENSP00000306923:M148L	M	-	1	0	KCND3	112326430	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.492000	0.45311	0.933000	0.37291	0.460000	0.39030	ATG		0.632	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198		9	16	0	0	0	0.000274275	0	9	16				
SLC16A1	6566	broad.mit.edu	37	1	113464670	113464670	+	Silent	SNP	A	A	T	rs148691598	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:113464670A>T	ENST00000538576.1	-	3	1134	c.303T>A	c.(301-303)atT>atA	p.I101I	SLC16A1_ENST00000433570.4_Silent_p.I101I|SLC16A1_ENST00000369626.3_Silent_p.I101I	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	101					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.I101I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	AAGAAGCTGCAATCAAGCCAC	0.418																																							uc001ecx.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(301-303)ATT>ATA		solute carrier family 16, member 1	Pyruvic acid(DB00119)						119.0	99.0	106.0					1																	113464670		2203	4300	6503	SO:0001819	synonymous_variant	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113464670A>T	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.303T>A	1.37:g.113464670A>T						SLC16A1_uc001ecy.2_Silent_p.I101I|SLC16A1_uc001ecz.2_Silent_p.I101I|AFARP1_uc001eda.1_5'Flank	p.I101I	NM_003051	NP_003042	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	3	1135	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	101			Helical; (Potential).		Q49A45|Q5T8R6|Q9NSJ9	Silent	SNP	ENST00000538576.1	37	c.303T>A	CCDS858.1																																																																																				0.418	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		25	30	0	0	0	0.00047179	0	25	30				
VANGL1	81839	broad.mit.edu	37	1	116206619	116206619	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:116206619G>C	ENST00000355485.2	+	4	813	c.542G>C	c.(541-543)cGg>cCg	p.R181P	VANGL1_ENST00000369510.4_Missense_Mutation_p.R179P|VANGL1_ENST00000369509.1_Missense_Mutation_p.R181P|VANGL1_ENST00000310260.3_Missense_Mutation_p.R181P	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	181			R -> Q (in NTD; unknown pathological significance). {ECO:0000269|PubMed:19319979}.		multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GACATGCCACGGGTGTTTGTG	0.498																																							uc001efv.1		NA																	0				central_nervous_system(1)	1						c.(541-543)CGG>CCG		vang-like 1							216.0	224.0	222.0					1																	116206619		2203	4300	6503	SO:0001583	missense	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116206619G>C	AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.542G>C	1.37:g.116206619G>C	ENSP00000347672:p.Arg181Pro					VANGL1_uc009wgy.1_Missense_Mutation_p.R179P|VANGL1_uc001efw.1_Missense_Mutation_p.R181P	p.R181P	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	4	813	+	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)	181		R -> Q (in NTD; uncertain pathogenicity).	Cytoplasmic (Potential).		Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	c.542G>C	CCDS883.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187723	0.78789	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.93190	0.7831	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71414	0.955;0.973	D	0.93635	0.6959	10	0.87932	D	0	-25.8667	19.8134	0.96556	0.0:0.0:1.0:0.0	.	179;181	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	P	181;179;181;181	ENSP00000347672:R181P;ENSP00000358523:R179P;ENSP00000310800:R181P;ENSP00000358522:R181P	ENSP00000310800:R181P	R	+	2	0	VANGL1	116008142	1.000000	0.71417	0.859000	0.33776	0.587000	0.36485	7.655000	0.83696	2.764000	0.94973	0.650000	0.86243	CGG		0.498	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			10	477	0	0	0	0.000219431	0	10	477				
SLC22A15	55356	broad.mit.edu	37	1	116605429	116605430	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:116605429_116605430GG>TT	ENST00000369503.4	+	9	1348_1349	c.1218_1219GG>TT	c.(1216-1221)ctGGgg>ctTTgg	p.G407W		NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	407					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.G407W(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGTCCTTGCTGGGGAAGCTGAC	0.48																																							uc001egb.3		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(2)	2						c.(1216-1221)CTGGGG>CTTTGG		solute carrier family 22, member 15																																				SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116605429_116605430GG>TT	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	Exception_encountered	1.37:g.116605429_116605430delinsTT	ENSP00000358515:p.Gly407Trp						p.G407W	NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	9	1348_1349	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	407			Helical; (Potential).		A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	DNP	ENST00000369503.4	37	c.1218_1219GG>TT	CCDS44198.1																																																																																				0.480	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2	NM_018420		16	519	0	0	0	6.4e-05	0	16	519				
HMGCS2	3158	broad.mit.edu	37	1	120298101	120298102	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:120298101_120298102CC>AA	ENST00000369406.3	-	6	1184_1185	c.1135_1136GG>TT	c.(1135-1137)GGg>TTg	p.G379L	HMGCS2_ENST00000476640.1_5'Flank|HMGCS2_ENST00000544913.2_Missense_Mutation_p.G337L	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	379					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)	p.G379V(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GTACATGTTCCCATTGTGAGTG	0.535																																							uc001eid.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1135-1137)GGG>TTG		hydroxymethylglutaryl-CoA synthase 2 isoform 1																																				SO:0001583	missense	3158				acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	g.chr1:120298101_120298102CC>AA	BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.1135_1136delinsAA	1.37:g.120298101_120298102delinsAA	ENSP00000358414:p.Gly379Leu					HMGCS2_uc010oxj.1_Missense_Mutation_p.G337L|HMGCS2_uc001eie.2_Missense_Mutation_p.G287L	p.G379L	NM_005518	NP_005509	P54868	HMCS2_HUMAN		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)	6	1186_1187	-	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)	379					B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	DNP	ENST00000369406.3	37	c.1135_1136GG>TT	CCDS905.1																																																																																				0.535	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033469.2	NM_005518		15	794	0	0	0	6.4e-05	0	15	794				
NBPF14	25832	broad.mit.edu	37	1	148009508	148009509	+	Missense_Mutation	DNP	CC	CC	AA	rs143363070	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:148009508_148009509CC>AA	ENST00000369219.1	-	16	1814_1815	c.1798_1799GG>TT	c.(1798-1800)GGg>TTg	p.G600L				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	600	NBPF 7. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.G600R(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CAACAGCTCCCCGCTGAGCCTG	0.465																																							uc001eqq.2		NA																	1	Substitution - Missense(1)		ovary(1)	ovary(1)	1						c.(1798-1800)GGG>TTG		hypothetical protein LOC25832																																				SO:0001583	missense	25832					cytoplasm		g.chr1:148009508_148009509CC>AA	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.1798_1799delinsAA	1.37:g.148009508_148009509delinsAA	ENSP00000358221:p.Gly600Leu					LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Missense_Mutation_p.G173L|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pad.1_Intron|NBPF14_uc001eqs.1_Intron	p.G600L	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN			16	1815_1816	-	all_hematologic(923;0.032)		600			NBPF 7.		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	DNP	ENST00000369219.1	37	c.1798_1799GG>TT																																																																																					0.465	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383		16	765	0	0	0	6.4e-05	0	16	765				
BOLA1	51027	broad.mit.edu	37	1	149871704	149871704	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:149871704C>G	ENST00000369153.2	+	3	756	c.92C>G	c.(91-93)cCg>cGg	p.P31R	BOLA1_ENST00000369150.1_Missense_Mutation_p.P31R|BOLA1_ENST00000369152.5_Missense_Mutation_p.P31R|BOLA1_ENST00000476344.1_3'UTR			Q9Y3E2	BOLA1_HUMAN	bolA family member 1	31						extracellular region (GO:0005576)|mitochondrion (GO:0005739)		p.P31R(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCCATCGGTCCGGTGGAGGCC	0.692																																							uc001etf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(91-93)CCG>CGG		bolA-like 1							31.0	36.0	34.0					1																	149871704		2202	4299	6501	SO:0001583	missense	51027					extracellular region	protein binding	g.chr1:149871704C>G	AF151901	CCDS939.1	1q21	2013-09-02	2013-09-02		ENSG00000178096	ENSG00000178096			24263	protein-coding gene	gene with protein product		613181	"""bolA-like 1 (E. coli)"", ""bolA homolog 1 (E. coli)"""			14718656	Standard	NM_016074		Approved	CGI-143	uc001etf.3	Q9Y3E2	OTTHUMG00000012087	ENST00000369153.2:c.92C>G	1.37:g.149871704C>G	ENSP00000358149:p.Pro31Arg						p.P31R	NM_016074	NP_057158	Q9Y3E2	BOLA1_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		2	213	+	Breast(34;0.0124)|all_hematologic(923;0.127)		31					B2R7K2|D3DUZ4|Q5QNY0	Missense_Mutation	SNP	ENST00000369153.2	37	c.92C>G	CCDS939.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829330	0.71258	.	.	ENSG00000178096	ENST00000369153;ENST00000369152;ENST00000369150	T;T;T	0.64618	-0.11;-0.11;-0.11	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	L	0.27053	0.805	0.80722	D	1	P	0.48503	0.911	P	0.52710	0.707	T	0.60727	-0.7206	10	0.66056	D	0.02	-14.9249	16.3248	0.82975	0.0:1.0:0.0:0.0	.	31	Q9Y3E2	BOLA1_HUMAN	R	31	ENSP00000358149:P31R;ENSP00000358148:P31R;ENSP00000358146:P31R	ENSP00000358146:P31R	P	+	2	0	BOLA1	148138328	0.998000	0.40836	0.995000	0.50966	0.202000	0.24057	6.218000	0.72224	2.514000	0.84764	0.455000	0.32223	CCG		0.692	BOLA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033443.2	NM_016074		3	38	0	0	0	0.00024832	0	3	38				
S100A10	6281	broad.mit.edu	37	1	151955702	151955702	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:151955702C>G	ENST00000368811.3	-	3	890	c.231G>C	c.(229-231)gcG>gcC	p.A77A	S100A10_ENST00000368809.1_Silent_p.A77A|S100A10_ENST00000478574.1_5'Flank	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10	77					cellular response to acid chemical (GO:0071229)|establishment of protein localization to plasma membrane (GO:0090002)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|positive regulation of binding (GO:0051099)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein heterotetramerization (GO:0051290)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)	p.A77A(1)		breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGGTGAGGCCCGCAATTAGGG	0.458																																							uc001ezl.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(229-231)GCG>GCC		S100 calcium binding protein A10							163.0	167.0	165.0					1																	151955702		2203	4300	6503	SO:0001819	synonymous_variant	6281				signal transduction		calcium ion binding|receptor binding	g.chr1:151955702C>G	BC015973	CCDS1008.1	1q21	2012-04-04	2006-09-11		ENSG00000197747	ENSG00000197747		"""S100 calcium binding proteins"""	10487	protein-coding gene	gene with protein product	"""annexin II tetramer (AIIt) p11 subunit"""	114085	"""S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"", ""S100 calcium binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"""	ANX2LG, CAL1L		8276421	Standard	NM_002966		Approved	P11, 42C, CLP11	uc001ezl.3	P60903	OTTHUMG00000013068	ENST00000368811.3:c.231G>C	1.37:g.151955702C>G							p.A77A	NM_002966	NP_002957	P60903	S10AA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	739	-	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		77					A8K4V8|P08206|Q5T1C5	Silent	SNP	ENST00000368811.3	37	c.231G>C	CCDS1008.1																																																																																				0.458	S100A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036673.1	NM_002966		6	185	0	0	0	8.12818e-05	0	6	185				
RPTN	126638	broad.mit.edu	37	1	152128155	152128156	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:152128155_152128156GG>TT	ENST00000316073.3	-	3	1483_1484	c.1419_1420CC>AA	c.(1417-1422)tcCCac>tcAAac	p.H474N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	474	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGACTGTAGTGGGAACTCTGGC	0.51																																							uc001ezs.1		NA																	0					0						c.(1417-1422)TCCCAC>TCAAAC		repetin																																				SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128155_152128156GG>TT	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1419_1420delinsTT	1.37:g.152128155_152128156delinsTT	ENSP00000317895:p.His474Asn						p.H474N	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	1484_1485	-			474			Gln-rich.		B7ZBZ3	Missense_Mutation	DNP	ENST00000316073.3	37	c.1419_1420CC>AA	CCDS41397.1																																																																																				0.510	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		30	812	0	0	0	6.4e-05	0	30	812				
RPTN	126638	broad.mit.edu	37	1	152128623	152128624	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:152128623_152128624GG>TT	ENST00000316073.3	-	3	1015_1016	c.951_952CC>AA	c.(949-954)tcCCac>tcAAac	p.H318N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	318	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.H318N(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGACTGTAGTGGGAACTCTGGC	0.515																																							uc001ezs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(949-954)TCCCAC>TCAAAC		repetin																																				SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128623_152128624GG>TT	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.951_952delinsTT	1.37:g.152128623_152128624delinsTT	ENSP00000317895:p.His318Asn						p.H318N	NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN			3	1016_1017	-			318			Gln-rich.		B7ZBZ3	Missense_Mutation	DNP	ENST00000316073.3	37	c.951_952CC>AA	CCDS41397.1																																																																																				0.515	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		18	831	0	0	0	6.4e-05	0	18	831				
HRNR	388697	broad.mit.edu	37	1	152187633	152187634	+	Missense_Mutation	DNP	GG	GG	TC			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:152187633_152187634GG>TC	ENST00000368801.2	-	3	6546_6547	c.6471_6472CC>GA	c.(6469-6474)tcCCgc>tcGAgc	p.R2158S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2158					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCATAGCGGGAAGACGAAC	0.619																																							uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(6469-6474)TCCCGC>TCGAGC		hornerin																																				SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187633_152187634GG>TC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6471_6472delinsTC	1.37:g.152187633_152187634delinsTC	ENSP00000357791:p.Arg2158Ser						p.R2158S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6547_6548	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2158			24.		Q5DT20|Q5U1F4	Missense_Mutation	DNP	ENST00000368801.2	37	c.6471_6472CC>GA	CCDS30859.1																																																																																				0.619	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		34	878	0	0	0	6.4e-05	0	34	878				
FLG	2312	broad.mit.edu	37	1	152279996	152279997	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:152279996_152279997GG>TT	ENST00000368799.1	-	3	7400_7401	c.7365_7366CC>AA	c.(7363-7368)tcCCaa>tcAAaa	p.Q2456K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2456	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.Q2456K(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)			TGACCCTCTTGGGACGTTGAGT	0.584									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(7363-7368)TCCCAA>TCAAAA		filaggrin																																				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.chr1:152279996_152279997GG>TT	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.7365_7366delinsTT	1.37:g.152279996_152279997delinsTT	ENSP00000357789:p.Gln2456Lys						p.Q2456K	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7401_7402	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2456			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	DNP	ENST00000368799.1	37	c.7365_7366CC>AA	CCDS30860.1																																																																																				0.584	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		15	426	0	0	0	6.4e-05	0	15	426				
FLG	2312	broad.mit.edu	37	1	152282432	152282432	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:152282432C>G	ENST00000368799.1	-	3	4965	c.4930G>C	c.(4930-4932)Ggg>Cgg	p.G1644R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1644	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.G1644R(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)			GCAGAGTGCCCATGACTGGCT	0.552									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(4930-4932)GGG>CGG		filaggrin							208.0	214.0	212.0					1																	152282432		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.chr1:152282432C>G	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.4930G>C	1.37:g.152282432C>G	ENSP00000357789:p.Gly1644Arg						p.G1644R	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4966	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1644			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4930G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.583	0.882713	0.17467	.	.	ENSG00000143631	ENST00000368799	T	0.01126	5.3	2.6	0.24	0.15489	.	.	.	.	.	T	0.00300	0.0009	L	0.32530	0.975	0.09310	N	1	B	0.31290	0.318	B	0.26416	0.069	T	0.34477	-0.9827	9	0.12430	T	0.62	.	4.1122	0.10063	0.0:0.5889:0.2431:0.168	.	1644	P20930	FILA_HUMAN	R	1644	ENSP00000357789:G1644R	ENSP00000357789:G1644R	G	-	1	0	FLG	150549056	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-3.759000	0.00373	0.223000	0.20920	0.306000	0.20318	GGG		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		8	400	0	0	0	0.000274275	0	8	400				
FLG	2312	broad.mit.edu	37	1	152286385	152286385	+	Missense_Mutation	SNP	C	C	G	rs201728138	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:152286385C>G	ENST00000368799.1	-	3	1012	c.977G>C	c.(976-978)tGg>tCg	p.W326S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	326	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.W326S(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)			TGACTGCTCCCACGCAGATCC	0.567									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(976-978)TGG>TCG		filaggrin							184.0	188.0	187.0					1																	152286385		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.chr1:152286385C>G	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.977G>C	1.37:g.152286385C>G	ENSP00000357789:p.Trp326Ser					uc001ezv.2_RNA	p.W326S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1013	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		326			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.977G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	-	0.157	-1.085595	0.01873	.	.	ENSG00000143631	ENST00000368799	T	0.01599	4.74	2.4	-4.8	0.03190	.	.	.	.	.	T	0.00300	0.0009	N	0.22421	0.69	0.09310	N	1	P	0.38167	0.621	B	0.35312	0.2	T	0.41538	-0.9503	9	0.07482	T	0.82	.	4.1745	0.10345	0.1617:0.3775:0.0:0.4608	.	326	P20930	FILA_HUMAN	S	326	ENSP00000357789:W326S	ENSP00000357789:W326S	W	-	2	0	FLG	150553009	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.676000	0.05221	-2.041000	0.00915	-1.540000	0.00911	TGG		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		5	261	0	0	0	1.23904e-05	0	5	261				
FLG2	388698	broad.mit.edu	37	1	152323752	152323752	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:152323752G>C	ENST00000388718.5	-	3	6582	c.6510C>G	c.(6508-6510)tcC>tcG	p.S2170S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2170					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.S2170S(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)			CAGTTGTCCTGGAACCTGTCT	0.512																																							uc001ezw.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(6508-6510)TCC>TCG		filaggrin family member 2							347.0	308.0	321.0					1																	152323752		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152323752G>C	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.6510C>G	1.37:g.152323752G>C						uc001ezv.2_Intron	p.S2170S	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6583	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2170			Filaggrin 10.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.6510C>G	CCDS30861.1																																																																																				0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	292	0	0	0	8.12818e-05	0	7	292				
FLG2	388698	broad.mit.edu	37	1	152329769	152329769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:152329769G>A	ENST00000388718.5	-	3	565	c.493C>T	c.(493-495)Caa>Taa	p.Q165*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	165	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.Q165*(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)			AAATTACCTTGTCTTCCTAGC	0.493																																							uc001ezw.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(493-495)CAA>TAA		filaggrin family member 2							186.0	193.0	191.0					1																	152329769		2203	4300	6503	SO:0001587	stop_gained	388698						calcium ion binding|structural molecule activity	g.chr1:152329769G>A	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.493C>T	1.37:g.152329769G>A	ENSP00000373370:p.Gln165*					uc001ezv.2_Intron	p.Q165*	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	566	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		165			Ser-rich.		Q9H4U1	Nonsense_Mutation	SNP	ENST00000388718.5	37	c.493C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.609719	0.66558	.	.	ENSG00000143520	ENST00000388718	.	.	.	5.51	1.21	0.21127	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-7.7744	8.7388	0.34545	0.0:0.1402:0.4262:0.4336	.	.	.	.	X	165	.	ENSP00000373370:Q165X	Q	-	1	0	FLG2	150596393	0.000000	0.05858	0.007000	0.13788	0.595000	0.36748	0.105000	0.15333	0.250000	0.21479	0.557000	0.71058	CAA		0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		204	54	0	0	0	0.000147903	0	204	54				
PGLYRP3	114771	broad.mit.edu	37	1	153277474	153277474	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:153277474G>C	ENST00000290722.1	-	3	377	c.325C>G	c.(325-327)Cag>Gag	p.Q109E		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	109					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.Q109E(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTGTAGCCCTGGGTGTGCAAG	0.498																																							uc001fbn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(325-327)CAG>GAG		peptidoglycan recognition protein 3 precursor							181.0	146.0	158.0					1																	153277474		2203	4300	6503	SO:0001583	missense	114771				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153277474G>C	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.325C>G	1.37:g.153277474G>C	ENSP00000290722:p.Gln109Glu						p.Q109E	NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	378	-	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		109					A1A4U8|Q5SY65	Missense_Mutation	SNP	ENST00000290722.1	37	c.325C>G	CCDS1035.1	.	.	.	.	.	.	.	.	.	.	G	2.755	-0.259084	0.05791	.	.	ENSG00000159527	ENST00000290722	T	0.13196	2.61	4.29	1.1	0.20463	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	1.093510	0.07106	N	0.841278	T	0.07593	0.0191	M	0.81942	2.565	0.21861	N	0.999502	P	0.39044	0.656	B	0.40444	0.329	T	0.38436	-0.9661	10	0.18710	T	0.47	-9.8773	6.0845	0.19960	0.0:0.1853:0.4345:0.3802	.	109	Q96LB9	PGRP3_HUMAN	E	109	ENSP00000290722:Q109E	ENSP00000290722:Q109E	Q	-	1	0	PGLYRP3	151544098	0.871000	0.30034	0.995000	0.50966	0.981000	0.71138	0.833000	0.27504	0.941000	0.37499	0.557000	0.71058	CAG		0.498	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	NM_052891		4	55	0	0	0	1.23904e-05	0	4	55				
UBAP2L	9898	broad.mit.edu	37	1	154239019	154239020	+	Missense_Mutation	DNP	CG	CG	AT	rs377262072		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:154239019_154239020CG>AT	ENST00000361546.2	+	24	2987_2988	c.2945_2946CG>AT	c.(2944-2946)tCG>tAT	p.S982Y	UBAP2L_ENST00000271877.7_Missense_Mutation_p.S993Y|UBAP2L_ENST00000428931.1_Missense_Mutation_p.S982Y|UBAP2L_ENST00000484819.1_3'UTR			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	982					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)	p.S982*(1)|p.S478*(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCAGATATCTCGGGTTCTGTGT	0.5																																							uc001fep.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2944-2946)TCG>TAT		ubiquitin associated protein 2-like isoform a																																				SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154239019_154239020CG>AT	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	Exception_encountered	1.37:g.154239019_154239020delinsAT	ENSP00000355343:p.Ser982Tyr					UBAP2L_uc010pel.1_Missense_Mutation_p.S992Y|UBAP2L_uc001feq.2_Missense_Mutation_p.S178Y|UBAP2L_uc001fer.2_Missense_Mutation_p.S178Y	p.S982Y	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		25	3112_3113	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		982					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	DNP	ENST00000361546.2	37	c.2945_2946CG>AT	CCDS1063.1																																																																																				0.500	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		8	363	0	0	0	6.4e-05	0	8	363				
ATP8B2	57198	broad.mit.edu	37	1	154317908	154317908	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:154317908G>C	ENST00000368489.3	+	23	2680	c.2680G>C	c.(2680-2682)Ggg>Cgg	p.G894R		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	880					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G894R(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTGGTGCATGGGCGCTGGTC	0.527											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001fex.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2680-2682)GGG>CGG		ATPase, class I, type 8B, member 2 isoform a							258.0	267.0	264.0					1																	154317908		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154317908G>C	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.2680G>C	1.37:g.154317908G>C	ENSP00000357475:p.Gly894Arg		OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1762		p.G894R	NM_020452	NP_065185	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		23	2680	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		880			Cytoplasmic (Potential).		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.2680G>C	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986623	0.93106	.	.	ENSG00000143515	ENST00000368489	D	0.98044	-4.68	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.99530	0.9832	H	0.99909	4.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97740	1.0208	10	0.87932	D	0	.	17.9212	0.88966	0.0:0.0:1.0:0.0	.	894	P98198-3	.	R	894	ENSP00000357475:G894R	ENSP00000357475:G894R	G	+	1	0	ATP8B2	152584532	1.000000	0.71417	0.980000	0.43619	0.995000	0.86356	9.657000	0.98554	2.797000	0.96272	0.655000	0.94253	GGG		0.527	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		6	417	0	0	0	0.000157383	0	6	417				
MEX3A	92312	broad.mit.edu	37	1	156047009	156047009	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:156047009C>G	ENST00000532414.2	-	2	918	c.919G>C	c.(919-921)Ggg>Cgg	p.G307R	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	307						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G426R(1)|p.G307R(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					TCGGGGCTCCCCGCCAGGAAG	0.657																																							uc001fnd.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(919-921)GGG>CGG		MEX3A protein							74.0	87.0	83.0					1																	156047009		2070	4200	6270	SO:0001583	missense	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156047009C>G	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.919G>C	1.37:g.156047009C>G	ENSP00000432845:p.Gly307Arg						p.G307R	NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN			2	919	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		307						Missense_Mutation	SNP	ENST00000532414.2	37	c.919G>C	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.254251	0.39896	.	.	ENSG00000254726	ENST00000532414	T	0.46063	0.88	5.59	4.62	0.57501	.	0.180647	0.45126	D	0.000398	T	0.11281	0.0275	N	0.22421	0.69	0.20074	N	0.999935	P	0.44195	0.828	B	0.39531	0.302	T	0.05666	-1.0871	10	0.26408	T	0.33	.	5.3719	0.16144	0.0:0.6618:0.1791:0.159	.	307	A1L020	MEX3A_HUMAN	R	307	ENSP00000432845:G307R	ENSP00000432845:G307R	G	-	1	0	MEX3A	154313633	0.985000	0.35326	0.809000	0.32408	0.485000	0.33311	2.841000	0.48223	2.637000	0.89404	0.313000	0.20887	GGG		0.657	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		4	106	0	0	0	1.23904e-05	0	4	106				
PRCC	5546	broad.mit.edu	37	1	156756632	156756632	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:156756632A>G	ENST00000271526.4	+	3	1021	c.749A>G	c.(748-750)aAg>aGg	p.K250R	PRCC_ENST00000491853.1_3'UTR|PRCC_ENST00000353233.3_Missense_Mutation_p.K250R	NM_005973.4	NP_005964.3	Q92733	PRCC_HUMAN	papillary renal cell carcinoma (translocation-associated)	250					mitotic cell cycle checkpoint (GO:0007093)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)		p.K250R(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTGCTGCCAAGAGTGCTGCC	0.557			T	TFE3	papillary renal																																		uc001fqa.2		NA		Dom	yes		1	1q21.1	5546	T	papillary renal cell carcinoma (translocation-associated)			E	TFE3		papillary renal 	PRCC/TFE3(25)	1	Substitution - Missense(1)		lung(1)	kidney(25)|central_nervous_system(2)	27						c.(748-750)AAG>AGG		papillary renal cell carcinoma							53.0	51.0	52.0					1																	156756632		2203	4300	6503	SO:0001583	missense	5546				cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	g.chr1:156756632A>G	X99720	CCDS1157.1	1q21.1	2008-02-05			ENSG00000143294	ENSG00000143294			9343	protein-coding gene	gene with protein product		179755				8872474	Standard	NM_005973		Approved	RCCP1	uc001fqa.3	Q92733	OTTHUMG00000041294	ENST00000271526.4:c.749A>G	1.37:g.156756632A>G	ENSP00000271526:p.Lys250Arg					PRCC_uc001fqb.2_Missense_Mutation_p.K250R	p.K250R	NM_005973	NP_005964	Q92733	PRCC_HUMAN			3	1039	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		250					A8K1F7|O00665|O00724|Q5SZ06	Missense_Mutation	SNP	ENST00000271526.4	37	c.749A>G	CCDS1157.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.788967	0.90367	.	.	ENSG00000143294	ENST00000271526;ENST00000353233;ENST00000368201	T;T	0.46063	0.88;0.88	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.42154	0.1190	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.80764	0.978;0.994	T	0.29088	-1.0023	10	0.31617	T	0.26	-10.1625	14.7433	0.69472	1.0:0.0:0.0:0.0	.	250;250	A6NG79;Q92733	.;PRCC_HUMAN	R	250;250;194	ENSP00000271526:K250R;ENSP00000339300:K250R	ENSP00000271526:K250R	K	+	2	0	PRCC	155023256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.849000	0.92178	2.158000	0.67659	0.533000	0.62120	AAG		0.557	PRCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098941.2	NM_005973		17	9	0	0	0	0.000422831	0	17	9				
CD1C	911	broad.mit.edu	37	1	158261152	158261152	+	Missense_Mutation	SNP	G	G	C	rs114534381	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:158261152G>C	ENST00000368170.3	+	2	569	c.290G>C	c.(289-291)cGg>cCg	p.R97P		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	97					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGATTAACTCGGGAGATTCAA	0.363																																							uc001fru.2		NA																	0				ovary(2)|skin(1)|pancreas(1)	4						c.(289-291)CGG>CCG		CD1C antigen precursor							97.0	95.0	96.0					1																	158261152		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158261152G>C	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.290G>C	1.37:g.158261152G>C	ENSP00000357152:p.Arg97Pro					CD1C_uc001frv.2_5'Flank	p.R97P	NM_001765	NP_001756	P29017	CD1C_HUMAN			2	582	+	all_hematologic(112;0.0378)		97			Extracellular (Potential).		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.290G>C	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	8.119	0.780539	0.16120	.	.	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.17854	2.25	3.52	-2.19	0.07015	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.350910	0.05551	N	0.567474	T	0.06325	0.0163	M	0.65975	2.015	0.09310	N	1	B	0.22746	0.074	B	0.20955	0.032	T	0.43972	-0.9358	10	0.56958	D	0.05	.	3.4483	0.07488	0.5132:0.0:0.2977:0.1891	.	97	P29017	CD1C_HUMAN	P	97	ENSP00000357152:R97P	ENSP00000357151:R97P	R	+	2	0	CD1C	156527776	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.402000	0.02499	-0.414000	0.07495	0.650000	0.86243	CGG		0.363	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		5	136	0	0	0	3.59834e-05	0	5	136				
CRP	1401	broad.mit.edu	37	1	159683373	159683373	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:159683373C>G	ENST00000255030.5	-	2	720	c.617G>C	c.(616-618)cGg>cCg	p.R206P	CRP_ENST00000368112.1_Missense_Mutation_p.R73P|CRP_ENST00000368110.1_Missense_Mutation_p.R84P|CRP_ENST00000437342.1_Missense_Mutation_p.R28P|CRP_ENST00000343919.2_Missense_Mutation_p.R84P|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368111.1_Missense_Mutation_p.R84P	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	206	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)	p.R206P(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	CTTCAGTGCCCGCCAGTTCAG	0.522																																							uc001ftw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(616-618)CGG>CCG		C-reactive protein, pentraxin-related precursor	Atorvastatin(DB01076)|Bezafibrate(DB01393)						59.0	60.0	60.0					1																	159683373		2203	4300	6503	SO:0001583	missense	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683373C>G	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"""pentraxin 1"""	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.617G>C	1.37:g.159683373C>G	ENSP00000255030:p.Arg206Pro					CRP_uc001ftx.1_Missense_Mutation_p.R73P|CRP_uc001fty.1_RNA	p.R206P	NM_000567	NP_000558	P02741	CRP_HUMAN			2	721	-	all_hematologic(112;0.0429)		206			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Missense_Mutation	SNP	ENST00000255030.5	37	c.617G>C	CCDS30911.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735426	0.49045	.	.	ENSG00000132693	ENST00000255030;ENST00000437342;ENST00000368112;ENST00000368111;ENST00000368110;ENST00000343919	T;T;T;T;T;T	0.58940	0.3;0.3;3.09;3.09;3.09;3.09	4.23	1.29	0.21616	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.406771	0.24766	N	0.035775	T	0.46444	0.1393	L	0.58810	1.83	0.09310	N	1	P;D	0.57257	0.729;0.979	P;P	0.60236	0.559;0.871	T	0.36578	-0.9742	10	0.26408	T	0.33	-9.4336	7.3646	0.26766	0.0:0.7001:0.0:0.2999	.	73;206	P02741-2;P02741	.;CRP_HUMAN	P	206;28;73;84;84;84	ENSP00000255030:R206P;ENSP00000402788:R28P;ENSP00000357093:R73P;ENSP00000357092:R84P;ENSP00000357091:R84P;ENSP00000340882:R84P	ENSP00000255030:R206P	R	-	2	0	CRP	157949997	0.000000	0.05858	0.023000	0.16930	0.017000	0.09413	-1.572000	0.02136	0.249000	0.21456	0.650000	0.86243	CGG		0.522	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567		4	66	0	0	0	0.00024832	0	4	66				
PIGM	93183	broad.mit.edu	37	1	160000712	160000712	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:160000712G>C	ENST00000368090.2	-	1	1071	c.818C>G	c.(817-819)cCg>cGg	p.P273R		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	273					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.P273R(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTAGAAGTACGGAGAAAAGTT	0.463																																							uc001fuv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(817-819)CCG>CGG		phosphatidylinositol glycan anchor biosynthesis,							134.0	136.0	136.0					1																	160000712		2203	4300	6503	SO:0001583	missense	93183				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane		g.chr1:160000712G>C	AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	18858	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 1"", ""DPM:GlcN-(acyl-)PI mannosyltransferase"", ""dol-P-Man dependent GPI mannosyltransferase"""	610273	"""phosphatidylinositol glycan, class M"""			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.818C>G	1.37:g.160000712G>C	ENSP00000357069:p.Pro273Arg						p.P273R	NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	1072	-	all_hematologic(112;0.093)		273			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000368090.2	37	c.818C>G	CCDS1192.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.154559	0.78114	.	.	ENSG00000143315	ENST00000368090	T	0.46451	0.87	4.96	4.96	0.65561	.	0.133130	0.51477	D	0.000091	T	0.66809	0.2827	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.74272	-0.3719	9	.	.	.	-21.0468	15.7509	0.77986	0.0:0.0:1.0:0.0	.	273	Q9H3S5	PIGM_HUMAN	R	273	ENSP00000357069:P273R	.	P	-	2	0	PIGM	158267336	1.000000	0.71417	0.966000	0.40874	0.964000	0.63967	7.324000	0.79115	2.581000	0.87130	0.462000	0.41574	CCG		0.463	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060643.2	NM_145167		5	205	0	0	0	1.23904e-05	0	5	205				
PEA15	8682	broad.mit.edu	37	1	160182980	160182980	+	Missense_Mutation	SNP	C	C	G	rs11552719		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:160182980C>G	ENST00000360472.4	+	3	441	c.253C>G	c.(253-255)Cgt>Ggt	p.R85G	PEA15_ENST00000368076.1_Missense_Mutation_p.R106G|PEA15_ENST00000488858.1_3'UTR|PEA15_ENST00000368077.1_Missense_Mutation_p.R63G	NM_003768.3	NP_003759.1	Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	85					apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|DNA damage checkpoint (GO:0000077)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of glucose import (GO:0046325)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|response to morphine (GO:0043278)|transport (GO:0006810)	cytoplasm (GO:0005737)|microtubule associated complex (GO:0005875)		p.R85S(1)|p.R85G(1)		large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTACAGAACCCGTGTGCTGAA	0.517																																							uc001fvk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(253-255)CGT>GGT		phosphoprotein enriched in astrocytes 15							184.0	155.0	165.0					1																	160182980		2203	4300	6503	SO:0001583	missense	8682				anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding	g.chr1:160182980C>G	Y13736	CCDS1199.1, CCDS72954.1	1q21.1	2008-07-18			ENSG00000162734	ENSG00000162734			8822	protein-coding gene	gene with protein product	"""Phosphoprotein enriched in astrocytes, 15kD"", ""homolog of mouse MAT-1 oncogene"""	603434				9205133	Standard	XM_005245564		Approved	HMAT1, MAT1, PED, PEA-15, MAT1H, HUMMAT1H	uc001fvk.3	Q15121	OTTHUMG00000031605	ENST00000360472.4:c.253C>G	1.37:g.160182980C>G	ENSP00000353660:p.Arg85Gly					PEA15_uc001fvl.2_Missense_Mutation_p.R106G|PEA15_uc001fvm.2_Missense_Mutation_p.R63G	p.R85G	NM_003768	NP_003759	Q15121	PEA15_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		3	443	+	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		85					B1AKZ3|O00511	Missense_Mutation	SNP	ENST00000360472.4	37	c.253C>G	CCDS1199.1	.	.	.	.	.	.	.	.	.	.	C	12.72	2.022392	0.35701	.	.	ENSG00000162734	ENST00000360472;ENST00000368077;ENST00000368076	D;D;D	0.82255	-1.59;-1.59;-1.59	5.56	4.59	0.56863	DEATH-like (2);Death effector (1);	0.273164	0.35466	N	0.003195	T	0.54046	0.1834	N	0.08118	0	0.35136	D	0.768421	B;P;B	0.35174	0.15;0.488;0.101	B;B;B	0.37267	0.03;0.245;0.067	T	0.57888	-0.7733	10	0.23302	T	0.38	-2.0513	12.2546	0.54617	0.284:0.716:0.0:0.0	.	63;106;85	B1AKZ5;B1AKZ3;Q15121	.;.;PEA15_HUMAN	G	85;63;106	ENSP00000353660:R85G;ENSP00000357056:R63G;ENSP00000357055:R106G	ENSP00000353660:R85G	R	+	1	0	PEA15	158449604	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.576000	0.60915	2.613000	0.88420	0.655000	0.94253	CGT		0.517	PEA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077407.1	NM_003768		4	152	0	0	0	0.00024832	0	4	152				
DCAF8	50717	broad.mit.edu	37	1	160188115	160188115	+	Splice_Site	SNP	C	C	G	rs142007100	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:160188115C>G	ENST00000368073.3	-	13	2110	c.1676G>C	c.(1675-1677)cGg>cCg	p.R559P	DCAF8_ENST00000608310.1_Splice_Site_p.R713P|DCAF8_ENST00000556710.1_Splice_Site_p.R713P|DCAF8_ENST00000368074.1_Splice_Site_p.R559P|DCAF8_ENST00000326837.2_Splice_Site_p.R559P			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	559					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R713L(1)|p.R559L(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						CTAGCTTACCCGGTGATGGCG	0.478																																							uc001fvo.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(1675-1677)CGG>CCG		DDB1 and CUL4 associated factor 8							206.0	202.0	204.0					1																	160188115		2203	4300	6503	SO:0001630	splice_region_variant	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160188115C>G	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.1677+1G>C	1.37:g.160188115C>G						DCAF8_uc001fvn.2_Missense_Mutation_p.R559P|DCAF8_uc009wth.2_Missense_Mutation_p.R559P|DCAF8_uc010pjb.1_Missense_Mutation_p.R559P|DCAF8_uc010pjc.1_Missense_Mutation_p.R713P	p.R559P	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN			13	1988	-			559					D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	c.1676G>C	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500789	0.64298	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000556710	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.24;-0.24	4.88	4.88	0.63580	.	0.118494	0.40144	U	0.001171	T	0.48995	0.1531	L	0.33245	0.995	0.80722	D	1	P;P	0.50528	0.936;0.609	P;B	0.45538	0.484;0.162	T	0.45702	-0.9243	10	0.25751	T	0.34	-4.5593	16.9801	0.86325	0.0:1.0:0.0:0.0	.	713;559	G3V3G9;Q5TAQ9	.;DCAF8_HUMAN	P	559;559;559;713;540;713	ENSP00000357052:R559P;ENSP00000318227:R559P;ENSP00000357053:R559P;ENSP00000451989:R713P;ENSP00000451235:R713P	ENSP00000318227:R559P	R	-	2	0	RP11-574F21.3;DCAF8	158454739	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.764000	0.74960	2.527000	0.85204	0.563000	0.77884	CGG		0.478	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726	Missense_Mutation	5	270	0	0	0	3.59834e-05	0	5	270				
DCAF8	50717	broad.mit.edu	37	1	160201110	160201110	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:160201110C>G	ENST00000368073.3	-	7	1481	c.1047G>C	c.(1045-1047)gtG>gtC	p.V349V	DCAF8_ENST00000608310.1_Silent_p.V503V|DCAF8_ENST00000556710.1_Silent_p.V503V|DCAF8_ENST00000368074.1_Silent_p.V349V|DCAF8_ENST00000326837.2_Silent_p.V349V			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	349					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V503V(1)|p.V349V(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						CTCGTCCACCCACTGCAAACT	0.433																																							uc001fvo.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(1045-1047)GTG>GTC		DDB1 and CUL4 associated factor 8							257.0	231.0	240.0					1																	160201110		2203	4300	6503	SO:0001819	synonymous_variant	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160201110C>G	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.1047G>C	1.37:g.160201110C>G						DCAF8_uc001fvn.2_Silent_p.V349V|DCAF8_uc009wth.2_Silent_p.V349V|DCAF8_uc010pjb.1_Silent_p.V349V|DCAF8_uc010pjc.1_Silent_p.V503V	p.V349V	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN			7	1359	-			349			WD 4.		D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Silent	SNP	ENST00000368073.3	37	c.1047G>C	CCDS1200.1																																																																																				0.433	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		5	189	0	0	0	3.59834e-05	0	5	189				
C1orf192	257177	broad.mit.edu	37	1	161335431	161335431	+	Missense_Mutation	SNP	C	C	G	rs149688361	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:161335431C>G	ENST00000367974.1	-	4	238	c.233G>C	c.(232-234)cGg>cCg	p.R78P	RP11-122G18.5_ENST00000437833.2_lincRNA	NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	78								p.R78L(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAGGGTCACCCGAGCAGGGGG	0.517																																							uc001gal.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(232-234)CGG>CCG		hypothetical protein LOC257177							134.0	143.0	140.0					1																	161335431		2203	4300	6503	SO:0001583	missense	257177							g.chr1:161335431C>G		CCDS30921.1	1q23.3	2014-02-21			ENSG00000188931	ENSG00000188931			32325	protein-coding gene	gene with protein product							Standard	NM_001013625		Approved	Flattop, Fltp	uc001gal.4	Q5VTH2	OTTHUMG00000034462	ENST00000367974.1:c.233G>C	1.37:g.161335431C>G	ENSP00000356951:p.Arg78Pro						p.R78P	NM_001013625	NP_001013647	Q5VTH2	CA192_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	239	-	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		78						Missense_Mutation	SNP	ENST00000367974.1	37	c.233G>C	CCDS30921.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341864	0.41498	.	.	ENSG00000188931	ENST00000367974	.	.	.	5.49	2.05	0.26809	.	0.440659	0.21245	N	0.077755	T	0.16257	0.0391	L	0.33485	1.01	0.26848	N	0.968236	B	0.24186	0.099	B	0.25140	0.058	T	0.05099	-1.0906	8	0.44086	T	0.13	-8.5536	6.603	0.22710	0.0:0.552:0.0:0.448	.	78	Q5VTH2	CA192_HUMAN	P	78	.	ENSP00000356951:R78P	R	-	2	0	C1orf192	159602055	0.999000	0.42202	0.998000	0.56505	0.999000	0.98932	0.699000	0.25586	0.547000	0.28938	0.655000	0.94253	CGG		0.517	C1orf192-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083309.1	NM_001013625		6	242	0	0	0	8.12818e-05	0	6	242				
SELP	6403	broad.mit.edu	37	1	169563945	169563945	+	Missense_Mutation	SNP	C	C	T	rs566756291	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:169563945C>T	ENST00000263686.6	-	13	2309	c.2272G>A	c.(2272-2274)Gtg>Atg	p.V758M	SELP_ENST00000367794.2_Missense_Mutation_p.V696M|SELP_ENST00000367786.2_Missense_Mutation_p.V696M|SELP_ENST00000458599.2_Missense_Mutation_p.V574M|SELP_ENST00000367792.2_Missense_Mutation_p.V574M|SELP_ENST00000367793.2_Missense_Mutation_p.V696M|SELP_ENST00000367788.2_Missense_Mutation_p.V696M|SELP_ENST00000367791.2_Missense_Mutation_p.V572M	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	758	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.V758M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	CAGGTTGGCACGGTAGTTGAC	0.433													C|||	2	0.000399361	0.0	0.0	5008	,	,		20938	0.0		0.0	False		,,,				2504	0.002						uc001ggi.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(2272-2274)GTG>ATG		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						161.0	144.0	150.0					1																	169563945		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169563945C>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.2272G>A	1.37:g.169563945C>T	ENSP00000263686:p.Val758Met					SELP_uc001ggh.2_Missense_Mutation_p.V593M|SELP_uc009wvr.2_Missense_Mutation_p.V758M	p.V758M	NM_003005	NP_002996	P16109	LYAM3_HUMAN			13	2337	-	all_hematologic(923;0.208)		758			Extracellular (Potential).|Sushi 9.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.2272G>A	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.001|0.001	-2.909374|-2.909374	0.00056|0.00056	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T;T	.|0.64991	.|-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	5.42|5.42	-6.14|-6.14	0.02111|0.02111	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.705008	.|0.13827	.|N	.|0.359988	T|T	0.14098|0.14098	0.0341|0.0341	N|N	0.04387|0.04387	-0.21|-0.21	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.20459	.|0.025;0.045;0.02	.|B;B;B	.|0.20577	.|0.03;0.02;0.018	T|T	0.21759|0.21759	-1.0236|-1.0236	5|10	.|0.22706	.|T	.|0.39	-2.0397|-2.0397	13.1355|13.1355	0.59407|0.59407	0.0:0.4359:0.0:0.5641|0.0:0.4359:0.0:0.5641	.|.	.|758;758;758	.|Q6NUL9;P16109;G3V1U2	.|.;LYAM3_HUMAN;.	H|M	573|572;758;757;574;758;758;696;696;574;572;696;696;681	.|ENSP00000263686:V758M;ENSP00000356767:V696M;ENSP00000356768:V696M;ENSP00000356766:V574M;ENSP00000356765:V572M;ENSP00000356762:V696M;ENSP00000356760:V696M	.|ENSP00000263686:V758M	R|V	-|-	2|1	0|0	SELP|SELP	167830569|167830569	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.028000|0.028000	0.11728|0.11728	-0.559000|-0.559000	0.05971|0.05971	-1.478000|-1.478000	0.01869|0.01869	-2.745000|-2.745000	0.00126|0.00126	CGT|GTG		0.433	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		8	105	0	0	0	0.000274275	0	8	105				
SELP	6403	broad.mit.edu	37	1	169586367	169586367	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:169586367T>C	ENST00000263686.6	-	3	417	c.380A>G	c.(379-381)aAc>aGc	p.N127S	SELP_ENST00000367794.2_Missense_Mutation_p.N127S|SELP_ENST00000367786.2_Missense_Mutation_p.N127S|SELP_ENST00000458599.2_Missense_Mutation_p.N127S|SELP_ENST00000367792.2_Missense_Mutation_p.N127S|SELP_ENST00000367793.2_Missense_Mutation_p.N127S|SELP_ENST00000367788.2_Missense_Mutation_p.N127S|SELP_ENST00000367791.2_Missense_Mutation_p.N127S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	127	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)	p.N127S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GTCCTCGTTGTTCCTTTTGTT	0.468																																							uc001ggi.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(379-381)AAC>AGC		selectin P precursor	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						292.0	263.0	273.0					1																	169586367		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169586367T>C	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.380A>G	1.37:g.169586367T>C	ENSP00000263686:p.Asn127Ser					SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Missense_Mutation_p.N127S	p.N127S	NM_003005	NP_002996	P16109	LYAM3_HUMAN			3	445	-	all_hematologic(923;0.208)		127			Extracellular (Potential).|C-type lectin.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.380A>G	CCDS1282.1	.	.	.	.	.	.	.	.	.	.	T	10.95	1.496153	0.26774	.	.	ENSG00000174175	ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367788;ENST00000367786;ENST00000458599	T;T;T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.28	5.79	4.6	0.57074	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.220091	0.32015	N	0.006711	T	0.02807	0.0084	N	0.16478	0.41	0.31144	N	0.706304	P;B	0.42827	0.791;0.157	B;B	0.30716	0.119;0.026	T	0.37709	-0.9694	10	0.19590	T	0.45	-25.9095	10.8221	0.46610	0.0:0.0:0.1583:0.8417	.	127;127	Q6NUL9;P16109	.;LYAM3_HUMAN	S	127;127;126;127;127;127;127;127;127;127;127;127;112	ENSP00000263686:N127S;ENSP00000356767:N127S;ENSP00000356768:N127S;ENSP00000356766:N127S;ENSP00000356765:N127S;ENSP00000356762:N127S;ENSP00000356760:N127S;ENSP00000399368:N112S	ENSP00000263686:N127S	N	-	2	0	SELP	167852991	0.193000	0.23313	0.997000	0.53966	0.598000	0.36846	0.376000	0.20535	2.208000	0.71279	0.460000	0.39030	AAC		0.468	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		157	68	0	0	0	0.000147903	0	157	68				
PRRX1	5396	broad.mit.edu	37	1	170705230	170705230	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:170705230C>G	ENST00000239461.6	+	4	954	c.641C>G	c.(640-642)cCt>cGt	p.P214R	PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000367760.3_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	214					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.P214R(1)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AACAATAGCCCTGCACAGGGC	0.493																																							uc001ghf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(640-642)CCT>CGT		paired mesoderm homeobox 1 isoform pmx-1b							173.0	175.0	174.0					1																	170705230		2203	4300	6503	SO:0001583	missense	5396					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:170705230C>G	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.641C>G	1.37:g.170705230C>G	ENSP00000239461:p.Pro214Arg					PRRX1_uc001ghe.2_3'UTR	p.P214R	NM_022716	NP_073207	P54821	PRRX1_HUMAN			4	688	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		214					B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	37	c.641C>G	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278829	0.59758	.	.	ENSG00000116132	ENST00000239461;ENST00000476867	D;T	0.92647	-3.08;-1.09	6.06	6.06	0.98353	.	0.147057	0.64402	D	0.000010	D	0.85448	0.5699	L	0.43152	1.355	0.80722	D	1	B	0.34015	0.435	B	0.24269	0.052	D	0.85930	0.1451	10	0.66056	D	0.02	.	19.1921	0.93671	0.0:1.0:0.0:0.0	.	214	P54821	PRRX1_HUMAN	R	214;59	ENSP00000239461:P214R;ENSP00000451225:P59R	ENSP00000356734:P214R	P	+	2	0	PRRX1	168971854	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.294000	0.78760	2.871000	0.98454	0.655000	0.94253	CCT		0.493	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902		6	266	0	0	0	3.59834e-05	0	6	266				
MROH9	80133	broad.mit.edu	37	1	170940959	170940960	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:170940959_170940960CC>AA	ENST00000367758.3	+	8	650_651	c.551_552CC>AA	c.(550-552)cCC>cAA	p.P184Q	MROH9_ENST00000367759.4_Missense_Mutation_p.P184Q	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	184								p.P184H(2)									CATGAAGATCCCTCGATTGTAA	0.436																																							uc001ghg.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(550-552)CCC>CAA		hypothetical protein LOC80133 isoform 2																																				SO:0001583	missense	80133						binding	g.chr1:170940959_170940960CC>AA	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	Exception_encountered	1.37:g.170940959_170940960delinsAA	ENSP00000356732:p.Pro184Gln					C1orf129_uc009wvy.2_5'UTR|C1orf129_uc010plz.1_Missense_Mutation_p.P184Q	p.P184Q	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			8	681_682	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		184					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	DNP	ENST00000367758.3	37	c.551_552CC>AA	CCDS41436.1																																																																																				0.436	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		9	284	0	0	0	6.4e-05	0	9	284				
DNM3	26052	broad.mit.edu	37	1	172011215	172011216	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:172011215_172011216CC>AA	ENST00000355305.5	+	8	1216_1217	c.1059_1060CC>AA	c.(1057-1062)acCCtg>acAAtg	p.L354M	DNM3_ENST00000367733.2_Missense_Mutation_p.L354M|DNM3_ENST00000367731.1_Missense_Mutation_p.L354M|DNM3_ENST00000358155.4_Missense_Mutation_p.L354M|DNM3_ENST00000520906.1_Missense_Mutation_p.L354M			Q9UQ16	DYN3_HUMAN	dynamin 3	354					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L354M(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AAGTAGATACCCTGGAACTCTC	0.361																																							uc001gie.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1057-1062)ACCCTG>ACAATG		dynamin 3 isoform a																																				SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172011215_172011216CC>AA	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	Exception_encountered	1.37:g.172011215_172011216delinsAA	ENSP00000347457:p.Leu354Met					DNM3_uc001gid.3_Missense_Mutation_p.L354M|DNM3_uc009wwb.2_Missense_Mutation_p.L354M|DNM3_uc001gif.2_Missense_Mutation_p.L354M	p.L354M	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			8	1235_1236	+			354					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	DNP	ENST00000355305.5	37	c.1059_1060CC>AA																																																																																					0.361	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		7	136	0	0	0	6.4e-05	0	7	136				
SERPINC1	462	broad.mit.edu	37	1	173883925	173883926	+	Missense_Mutation	DNP	CG	CG	AT	rs550247582		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:173883925_173883926CG>AT	ENST00000367698.3	-	2	291_292	c.173_174CG>AT	c.(172-174)cCG>cAT	p.P58H	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	58					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P58H(1)		NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	CCTTCTTCTCCGGGGAGCGGTA	0.594											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001gjt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(172-174)CCG>CAT		serpin peptidase inhibitor, clade C, member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)																																			SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173883925_173883926CG>AT	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.173_174delinsAT	1.37:g.173883925_173883926delinsAT	ENSP00000356671:p.Pro58His		OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1911		p.P58H	NM_000488	NP_000479	P01008	ANT3_HUMAN			2	292_293	-			58					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	DNP	ENST00000367698.3	37	c.173_174CG>AT	CCDS1313.1																																																																																				0.594	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		8	260	0	0	0	6.4e-05	0	8	260				
TNN	63923	broad.mit.edu	37	1	175048794	175048794	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:175048794G>C	ENST00000239462.4	+	3	848	c.735G>C	c.(733-735)acG>acC	p.T245T		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	245	EGF-like 3.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.T245T(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TCTGTGACACGGGCGAGTGCT	0.662																																							uc001gkl.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(733-735)ACG>ACC		tenascin N precursor							22.0	16.0	18.0					1																	175048794		2165	4253	6418	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175048794G>C	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.735G>C	1.37:g.175048794G>C						TNN_uc010pmx.1_Silent_p.T245T	p.T245T	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	3	848	+		Breast(1374;0.000962)	245			EGF-like 3.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.735G>C	CCDS30943.1																																																																																				0.662	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		3	10	0	0	0	6.4e-05	0	3	10				
TNN	63923	broad.mit.edu	37	1	175092647	175092647	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:175092647C>T	ENST00000239462.4	+	12	2875	c.2762C>T	c.(2761-2763)tCt>tTt	p.S921F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	921	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.S921F(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGCTACACCTCTGCTGACGGA	0.592																																							uc001gkl.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2761-2763)TCT>TTT		tenascin N precursor							91.0	78.0	82.0					1																	175092647		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175092647C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2762C>T	1.37:g.175092647C>T	ENSP00000239462:p.Ser921Phe						p.S921F	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	12	2875	+		Breast(1374;0.000962)	921			Fibronectin type-III 8.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2762C>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	14.94	2.685556	0.47991	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.58652	0.32	4.98	4.98	0.66077	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.122583	0.56097	D	0.000031	T	0.80476	0.4630	M	0.90019	3.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.84602	0.0673	10	0.66056	D	0.02	.	16.3803	0.83458	0.0:1.0:0.0:0.0	.	921	Q9UQP3	TENN_HUMAN	F	921;744	ENSP00000239462:S921F	ENSP00000239462:S921F	S	+	2	0	TNN	173359270	0.997000	0.39634	0.992000	0.48379	0.018000	0.09664	3.964000	0.56780	2.446000	0.82766	0.462000	0.41574	TCT		0.592	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		65	22	0	0	0	0.000147903	0	65	22				
ASTN1	460	broad.mit.edu	37	1	176918392	176918392	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:176918392C>T	ENST00000367654.3	-	12	2218	c.2007G>A	c.(2005-2007)gaG>gaA	p.E669E	ASTN1_ENST00000424564.2_Silent_p.E661E|ASTN1_ENST00000367657.3_Silent_p.E661E|ASTN1_ENST00000361833.2_Silent_p.E661E|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	669	EGF-like 3.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.E661E(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGCACAGCTGCTCACAGCCGC	0.617											OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001glc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1981-1983)GAG>GAA		astrotactin isoform 1							62.0	61.0	62.0					1																	176918392		2203	4300	6503	SO:0001819	synonymous_variant	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176918392C>T	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2007G>A	1.37:g.176918392C>T			OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1934	ASTN1_uc001glb.1_Silent_p.E661E|ASTN1_uc001gld.1_Silent_p.E661E|ASTN1_uc009wwx.1_Silent_p.E661E	p.E661E	NM_004319	NP_004310	O14525	ASTN1_HUMAN			12	2195	-			669			EGF-like 3.		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37	c.1983G>A																																																																																					0.617	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		37	18	0	0	0	0.000159656	0	37	18				
ASTN1	460	broad.mit.edu	37	1	177030282	177030282	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:177030282C>A	ENST00000367654.3	-	2	614	c.403G>T	c.(403-405)Gac>Tac	p.D135Y	ASTN1_ENST00000424564.2_Missense_Mutation_p.D135Y|ASTN1_ENST00000367657.3_Missense_Mutation_p.D135Y|ASTN1_ENST00000361833.2_Missense_Mutation_p.D135Y|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	135					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.D135Y(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCAGTGGGGTCTTGTCCAGGA	0.542																																							uc001glc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(403-405)GAC>TAC		astrotactin isoform 1							248.0	234.0	239.0					1																	177030282		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:177030282C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.403G>T	1.37:g.177030282C>A	ENSP00000356626:p.Asp135Tyr					ASTN1_uc001glb.1_Missense_Mutation_p.D135Y|ASTN1_uc001gld.1_Missense_Mutation_p.D135Y|ASTN1_uc009wwx.1_Missense_Mutation_p.D135Y	p.D135Y	NM_004319	NP_004310	O14525	ASTN1_HUMAN			2	615	-			135					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.403G>T		.	.	.	.	.	.	.	.	.	.	C	20.5	4.003347	0.74932	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15017	2.46;2.88;2.88;2.46	6.06	6.06	0.98353	.	0.165860	0.52532	D	0.000077	T	0.18467	0.0443	N	0.14661	0.345	0.58432	D	0.999999	P;P;P	0.47253	0.892;0.892;0.892	P;B;B	0.47251	0.542;0.413;0.413	T	0.01319	-1.1386	10	0.66056	D	0.02	-23.4726	20.2159	0.98296	0.0:1.0:0.0:0.0	.	135;135;135	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	Y	135	ENSP00000356629:D135Y;ENSP00000354536:D135Y;ENSP00000356626:D135Y;ENSP00000395041:D135Y	ENSP00000354536:D135Y	D	-	1	0	ASTN1	175296905	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.386000	0.59620	2.882000	0.98803	0.655000	0.94253	GAC		0.542	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		164	67	1	0	6.32397e-60	0.000147903	1.68967e-58	164	67				
BRINP2	57795	broad.mit.edu	37	1	177199204	177199204	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:177199204C>T	ENST00000361539.4	+	2	504	c.192C>T	c.(190-192)ccC>ccT	p.P64P		NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	64					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.P64P(1)									ACCGGGGCCCCTTCCACCGCG	0.627																																							uc001glf.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(190-192)CCC>CCT		family with sequence similarity 5, member B							45.0	49.0	48.0					1																	177199204		2203	4300	6503	SO:0001819	synonymous_variant	57795					extracellular region		g.chr1:177199204C>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.192C>T	1.37:g.177199204C>T							p.P64P	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			2	504	+			64					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	37	c.192C>T	CCDS1320.1																																																																																				0.627	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		48	24	0	0	0	0.000147903	0	48	24				
CFHR2	3080	broad.mit.edu	37	1	196884178	196884178	+	Intron	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:196884178G>C	ENST00000367421.3	+	2	135				CFHR4_ENST00000367416.2_Missense_Mutation_p.E483Q|CFHR4_ENST00000251424.4_Missense_Mutation_p.E237Q|CFHR4_ENST00000367418.2_Missense_Mutation_p.E237Q|CFHR4_ENST00000608469.1_Missense_Mutation_p.E107Q			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.E483Q(1)|p.E237Q(1)		large_intestine(2)|ovary(1)|skin(3)	6						GTCAAGAGTCGAGTACCAATG	0.423																																							uc001gto.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(709-711)GAG>CAG		complement factor H-related 4 precursor							227.0	223.0	224.0					1																	196884178		2201	4299	6500	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196884178G>C	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34407G>C	1.37:g.196884178G>C						CFHR4_uc009wyy.2_Missense_Mutation_p.E483Q|CFHR4_uc001gtp.2_Missense_Mutation_p.E484Q	p.E237Q	NM_006684	NP_006675	Q92496	FHR4_HUMAN			5	778	+			237			Sushi 4.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.709G>C		.	.	.	.	.	.	.	.	.	.	G	15.50	2.851044	0.51270	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	T;T;T	0.65549	-0.16;-0.16;-0.16	2.9	1.93	0.25924	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.68293	0.2985	L	0.46157	1.445	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.986	D;D;P	0.85130	0.931;0.997;0.825	T	0.55373	-0.8151	9	0.25751	T	0.34	.	8.1201	0.30965	0.0:0.2525:0.7475:0.0	.	483;484;237	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	Q	483;237;237;237	ENSP00000356386:E483Q;ENSP00000356388:E237Q;ENSP00000251424:E237Q	ENSP00000251424:E237Q	E	+	1	0	CFHR4	195150801	0.101000	0.21875	0.008000	0.14137	0.775000	0.43874	0.302000	0.19192	0.476000	0.27440	0.436000	0.28706	GAG		0.423	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		4	225	0	0	0	0.00024832	0	4	225				
KIF14	9928	broad.mit.edu	37	1	200534577	200534577	+	Silent	SNP	A	A	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:200534577A>G	ENST00000367350.4	-	24	4320	c.3882T>C	c.(3880-3882)gaT>gaC	p.D1294D		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1294	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)	p.D1294D(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GCTTACAGTTATCTTGACTTT	0.338																																							uc010ppk.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(2)|skin(2)	7						c.(3880-3882)GAT>GAC		kinesin family member 14							74.0	68.0	70.0					1																	200534577		2202	4297	6499	SO:0001819	synonymous_variant	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200534577A>G	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3882T>C	1.37:g.200534577A>G						KIF14_uc010ppj.1_Silent_p.D803D	p.D1294D	NM_014875	NP_055690	Q15058	KIF14_HUMAN			24	4321	-			1294			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Silent	SNP	ENST00000367350.4	37	c.3882T>C	CCDS30963.1																																																																																				0.338	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		61	21	0	0	0	0.000147903	0	61	21				
ELF3	1999	broad.mit.edu	37	1	201981142	201981142	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:201981142A>T	ENST00000359651.3	+	2	3413	c.221A>T	c.(220-222)gAc>gTc	p.D74V	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367284.5_Missense_Mutation_p.D74V|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.D74V					E74-like factor 3 (ets domain transcription factor, epithelial-specific )									p.D74V(2)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CAGGTTCTGGACTGGATCAGC	0.582																																							uc001gxg.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(220-222)GAC>GTC		E74-like factor 3 (ets domain transcription							127.0	126.0	126.0					1																	201981142		2203	4300	6503	SO:0001583	missense	1999				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:201981142A>T	AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.221A>T	1.37:g.201981142A>T	ENSP00000352673:p.Asp74Val					ELF3_uc001gxi.3_Missense_Mutation_p.D74V|ELF3_uc001gxh.3_Missense_Mutation_p.D74V	p.D74V	NM_004433	NP_004424	P78545	ELF3_HUMAN			2	3413	+			74			PNT.			Missense_Mutation	SNP	ENST00000359651.3	37	c.221A>T	CCDS1419.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.953863	0.92660	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.56	5.56	0.83823	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.314770	0.33980	N	0.004365	T	0.47691	0.1459	L	0.56769	1.78	0.80722	D	1	P	0.51147	0.942	P	0.56434	0.798	T	0.48592	-0.9022	10	0.87932	D	0	.	15.7198	0.77700	1.0:0.0:0.0:0.0	.	74	P78545	ELF3_HUMAN	V	74;74;74;74;72	ENSP00000352673:D74V;ENSP00000356253:D74V;ENSP00000356252:D74V;ENSP00000405162:D72V	ENSP00000311348:D74V	D	+	2	0	ELF3	200247765	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.654000	0.91092	2.108000	0.64289	0.482000	0.46254	GAC		0.582	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433		99	47	0	0	0	0.000147903	0	99	47				
ATP2B4	493	broad.mit.edu	37	1	203696691	203696691	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:203696691C>G	ENST00000357681.5	+	20	4424	c.3301C>G	c.(3301-3303)Cag>Gag	p.Q1101E	ATP2B4_ENST00000341360.2_Missense_Mutation_p.Q1101E|ATP2B4_ENST00000367219.3_Missense_Mutation_p.Q1089E|ATP2B4_ENST00000367218.3_Missense_Mutation_p.Q1101E|ATP2B4_ENST00000391954.2_Missense_Mutation_p.Q1065E|SNORA77_ENST00000408716.1_RNA|ATP2B4_ENST00000466407.1_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1101	Calmodulin-binding subdomain A.				blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.Q1101E(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAACCGTATCCAGACTCAGGT	0.572																																							uc001gzw.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(3301-3303)CAG>GAG		plasma membrane calcium ATPase 4 isoform 4b							122.0	109.0	113.0					1																	203696691		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203696691C>G	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3301C>G	1.37:g.203696691C>G	ENSP00000350310:p.Gln1101Glu					ATP2B4_uc001gzv.2_Missense_Mutation_p.Q1101E|ATP2B4_uc009xaq.2_Missense_Mutation_p.Q1101E|ATP2B4_uc001gzx.2_Missense_Mutation_p.Q132E|ATP2B4_uc009xar.2_Missense_Mutation_p.Q96E|ATP2B4_uc010pqj.1_RNA|uc010pqk.1_5'Flank|SNORA77_uc001gzy.1_5'Flank	p.Q1101E	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		20	4185	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		1101			Cytoplasmic (Potential).|Calmodulin-binding subdomain A.		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.3301C>G	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976451	0.92982	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04	5.77	5.77	0.91146	.	0.000000	0.47093	D	0.000249	D	0.89332	0.6685	L	0.32530	0.975	0.80722	D	1	D;P;P	0.60575	0.988;0.917;0.932	D;P;D	0.76071	0.987;0.755;0.926	D	0.90075	0.4166	10	0.87932	D	0	-29.9379	19.5934	0.95525	0.0:1.0:0.0:0.0	.	1101;1101;1101	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	E	1101;1101;1089;1065;1101	ENSP00000350310:Q1101E;ENSP00000356187:Q1101E;ENSP00000356188:Q1089E;ENSP00000375816:Q1065E;ENSP00000340930:Q1101E	ENSP00000340930:Q1101E	Q	+	1	0	ATP2B4	201963314	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.915000	0.69973	2.724000	0.93272	0.561000	0.74099	CAG		0.572	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		4	65	0	0	0	1.23904e-05	0	4	65				
LRRN2	10446	broad.mit.edu	37	1	204587055	204587055	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:204587055G>T	ENST00000367175.1	-	1	4278	c.2066C>A	c.(2065-2067)cCc>cAc	p.P689H	RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000367176.3_Missense_Mutation_p.P689H|LRRN2_ENST00000367177.3_Missense_Mutation_p.P689H|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	689					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P689H(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGGATTCCAGGGCAGGACGAG	0.602																																							uc001hbe.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(2065-2067)CCC>CAC		leucine rich repeat neuronal 2 precursor							88.0	94.0	92.0					1																	204587055		2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587055G>T	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.2066C>A	1.37:g.204587055G>T	ENSP00000356143:p.Pro689His					MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.P689H|LRRN2_uc009xbf.1_Missense_Mutation_p.P689H|MDM4_uc001hbc.2_Intron	p.P689H	NM_006338	NP_006329	O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		3	2454	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		689			Cytoplasmic (Potential).		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.2066C>A	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	G	5.967	0.362336	0.11296	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.58652	0.32;0.32;0.32	5.16	0.811	0.18739	.	0.440829	0.16772	N	0.200173	T	0.30417	0.0764	N	0.08118	0	0.30228	N	0.796174	B	0.02656	0.0	B	0.01281	0.0	T	0.14839	-1.0458	10	0.56958	D	0.05	.	3.6897	0.08341	0.2653:0.0:0.3248:0.4099	.	689	O75325	LRRN2_HUMAN	H	689	ENSP00000356144:P689H;ENSP00000356145:P689H;ENSP00000356143:P689H	ENSP00000356143:P689H	P	-	2	0	LRRN2	202853678	1.000000	0.71417	0.979000	0.43373	0.633000	0.38033	0.710000	0.25748	0.331000	0.23511	0.561000	0.74099	CCC		0.602	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		106	36	1	0	1.47424e-42	0.000147903	3.91613e-41	106	36				
IL24	11009	broad.mit.edu	37	1	207074963	207074963	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:207074963A>C	ENST00000294984.2	+	5	702	c.428A>C	c.(427-429)aAc>aCc	p.N143T	IL24_ENST00000491169.1_3'UTR|IL24_ENST00000391929.3_Missense_Mutation_p.N144T|IL24_ENST00000367093.3_Intron	NM_001185156.1|NM_006850.3	NP_001172085.1|NP_006841.1	Q13007	IL24_HUMAN	interleukin 24	143					apoptotic process (GO:0006915)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|serine phosphorylation of STAT3 protein (GO:0033136)|wound healing (GO:0042060)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)		p.N143T(1)		endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12	Breast(84;0.201)					CTGGCCAACAACTTTGTTCTC	0.463																																							uc001hes.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(427-429)AAC>ACC		interleukin 24 isoform 1 precursor							132.0	121.0	124.0					1																	207074963		2203	4300	6503	SO:0001583	missense	11009				apoptosis	extracellular space	cytokine activity	g.chr1:207074963A>C	U16261	CCDS1471.1, CCDS53465.1, CCDS53466.1, CCDS73021.1	1q32	2011-07-15		2001-06-29	ENSG00000162892	ENSG00000162892		"""Interleukins and interleukin receptors"""	11346	protein-coding gene	gene with protein product	"""melanoma differentiation association protein 7"", ""suppression of tumorigenicity 16 (melanoma differentiation)"", ""IL-4-induced secreted protein"""	604136		ST16		8545104, 8799171	Standard	NM_001185156		Approved	mda-7, IL10B, Mob-5, C49A, FISP, IL-24	uc001heu.2	Q13007	OTTHUMG00000036459	ENST00000294984.2:c.428A>C	1.37:g.207074963A>C	ENSP00000294984:p.Asn143Thr					IL24_uc001het.1_5'UTR|IL24_uc001heu.1_Missense_Mutation_p.N144T|IL24_uc001hev.1_RNA|IL24_uc001hew.1_Intron|IL24_uc001hex.1_Intron	p.N143T	NM_006850	NP_006841	Q13007	IL24_HUMAN			5	702	+	Breast(84;0.201)		143					Q2YHE5|Q53XZ7|Q5YLN8|Q96DB0|Q96KG4	Missense_Mutation	SNP	ENST00000294984.2	37	c.428A>C	CCDS1471.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.959387	0.34565	.	.	ENSG00000162892	ENST00000391929;ENST00000294984	T;T	0.16324	2.35;2.35	4.72	3.59	0.41128	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.419632	0.25863	N	0.027802	T	0.26882	0.0658	L	0.52266	1.64	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.68765	0.96;0.96	T	0.12243	-1.0555	10	0.14656	T	0.56	-25.7931	6.9612	0.24597	0.8983:0.0:0.1017:0.0	.	144;143	Q53XZ7;Q13007	.;IL24_HUMAN	T	144;143	ENSP00000375795:N144T;ENSP00000294984:N143T	ENSP00000294984:N143T	N	+	2	0	IL24	205141586	1.000000	0.71417	0.966000	0.40874	0.353000	0.29299	2.265000	0.43311	0.851000	0.35264	-0.388000	0.06559	AAC		0.463	IL24-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088680.2	NM_006850		4	50	0	0	0	0.00024832	0	4	50				
SYT14	255928	broad.mit.edu	37	1	210273728	210273728	+	Silent	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:210273728G>A	ENST00000472886.1	+	6	1100	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	SYT14_ENST00000534859.1_Silent_p.K362K|SYT14_ENST00000422431.1_Silent_p.K407K|SYT14_ENST00000367019.1_Silent_p.K362K|SYT14_ENST00000537238.1_Silent_p.K324K|SYT14_ENST00000367015.1_Silent_p.K324K|SYT14_ENST00000271745.7_Intron|SYT14_ENST00000399639.2_Silent_p.K362K			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	362	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)	p.K362K(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TGGGGGAAAAGATTTTTTATT	0.333																																							uc009xcv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1084-1086)AAG>AAA		synaptotagmin XIV isoform 4							40.0	43.0	42.0					1																	210273728		2203	4296	6499	SO:0001819	synonymous_variant	255928					integral to membrane		g.chr1:210273728G>A	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.1086G>A	1.37:g.210273728G>A						SYT14_uc001hhs.3_Silent_p.K407K|SYT14_uc001hht.3_Silent_p.K362K|SYT14_uc001hhu.3_Intron|SYT14_uc010psn.1_Silent_p.K407K|SYT14_uc010pso.1_Silent_p.K324K	p.K362K	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	6	1158	+			362			Cytoplasmic (Potential).|C2 1.		B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Silent	SNP	ENST00000472886.1	37	c.1086G>A	CCDS31014.1																																																																																				0.333	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		80	21	0	0	0	0.000147903	0	80	21				
ESRRG	2104	broad.mit.edu	37	1	216824331	216824331	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:216824331C>G	ENST00000408911.3	-	3	726	c.573G>C	c.(571-573)gtG>gtC	p.V191V	ESRRG_ENST00000361395.2_Silent_p.V168V|ESRRG_ENST00000391890.3_Silent_p.V168V|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000359162.2_Silent_p.V168V|ESRRG_ENST00000366938.2_Silent_p.V168V|ESRRG_ENST00000493603.1_Silent_p.V168V|ESRRG_ENST00000487276.1_Silent_p.V168V|ESRRG_ENST00000493748.1_Silent_p.V168V|ESRRG_ENST00000366940.2_Silent_p.V168V|ESRRG_ENST00000360012.3_Silent_p.V168V|ESRRG_ENST00000361525.3_Silent_p.V168V|ESRRG_ENST00000366937.1_Silent_p.V196V	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	191					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V191V(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCAGCATGCCCACTTTTAAAC	0.463																																							uc001hkw.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)	2						c.(571-573)GTG>GTC		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						145.0	139.0	141.0					1																	216824331		2203	4300	6503	SO:0001819	synonymous_variant	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216824331C>G	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.573G>C	1.37:g.216824331C>G						ESRRG_uc001hky.1_Silent_p.V168V|ESRRG_uc009xdp.1_Silent_p.V168V|ESRRG_uc001hkz.1_Intron|ESRRG_uc010puc.1_Silent_p.V168V|ESRRG_uc001hla.1_Silent_p.V168V|ESRRG_uc001hlb.1_Silent_p.V168V|ESRRG_uc010pud.1_5'UTR|ESRRG_uc001hlc.1_Silent_p.V168V|ESRRG_uc001hld.1_Silent_p.V168V|ESRRG_uc001hkx.1_Silent_p.V196V|ESRRG_uc009xdo.1_Silent_p.V168V|ESRRG_uc001hle.1_Silent_p.V168V	p.V191V	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	3	739	-			191			Nuclear receptor.		A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	ENST00000408911.3	37	c.573G>C	CCDS41468.1																																																																																				0.463	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		5	183	0	0	0	8.12818e-05	0	5	183				
CAPN9	10753	broad.mit.edu	37	1	230921726	230921727	+	Splice_Site	DNP	GG	GG	TT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:230921726_230921727GG>TT	ENST00000271971.2	+	12	1594_1595	c.1481_1482GG>TT	c.(1480-1482)cGG>cTT	p.R494L	CAPN9_ENST00000354537.1_Splice_Site_p.R468L|RP11-99J16__A.2_ENST00000452640.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000366666.2_Splice_Site_p.R431L|RP11-99J16__A.2_ENST00000428480.1_RNA	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	494	Domain III.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.R494R(1)|p.R468R(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TGCCCCTACAGGGATATGGATG	0.48																																							uc001htz.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.e12-1		calpain 9 isoform 1																																				SO:0001630	splice_region_variant	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230921726_230921727GG>TT	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	Exception_encountered	1.37:g.230921726_230921727delinsTT						CAPN9_uc009xfg.1_Splice_Site_p.R431_splice|CAPN9_uc001hua.1_Splice_Site_p.R468_splice	p.R494_splice	NM_006615	NP_006606	O14815	CAN9_HUMAN			12	1595	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)						B1APS1|B1AQI0|Q9NS74	Splice_Site	DNP	ENST00000271971.2	37	c.1482_splice	CCDS1586.1																																																																																				0.480	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	NM_006615	Missense_Mutation	13	619	0	0	0	6.4e-05	0	13	619				
GNPAT	8443	broad.mit.edu	37	1	231396289	231396290	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:231396289_231396290CG>AT	ENST00000366647.4	+	3	467_468	c.298_299CG>AT	c.(298-300)CGa>ATa	p.R100I	GNPAT_ENST00000366646.3_Missense_Mutation_p.R39I	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	100					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.R100L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GGATGTCCTCCGAGAGGAAGTG	0.391																																							uc001hup.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(298-300)CGA>ATA		glyceronephosphate O-acyltransferase																																				SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231396289_231396290CG>AT	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	Exception_encountered	1.37:g.231396289_231396290delinsAT	ENSP00000355607:p.Arg100Ile					GNPAT_uc009xfo.1_5'UTR|GNPAT_uc009xfp.2_Missense_Mutation_p.R39I	p.R100I	NM_014236	NP_055051	O15228	GNPAT_HUMAN			3	504_505	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	100					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	DNP	ENST00000366647.4	37	c.298_299CG>AT	CCDS1592.1																																																																																				0.391	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			11	386	0	0	0	6.4e-05	0	11	386				
MTR	4548	broad.mit.edu	37	1	237024423	237024423	+	Splice_Site	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:237024423A>T	ENST00000366577.5	+	20	2437		c.e20-1		MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.?(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	tgtcttttttAGGGCATTGAA	0.323																																							uc001hyi.3		NA																	1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.e20-2		5-methyltetrahydrofolate-homocysteine	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						28.0	28.0	28.0					1																	237024423		2190	4294	6484	SO:0001630	splice_region_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024423A>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2044-1A>T	1.37:g.237024423A>T						MTR_uc010pxw.1_Splice_Site_p.G275_splice|MTR_uc010pxx.1_Intron|MTR_uc010pxy.1_Splice_Site_p.G536_splice	p.G682_splice	NM_000254	NP_000245	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2467	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)						A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Splice_Site	SNP	ENST00000366577.5	37	c.2044_splice	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919996	0.73098	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000366576	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6414	0.77006	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTR	235091046	1.000000	0.71417	0.990000	0.47175	0.822000	0.46500	9.300000	0.96151	2.279000	0.76181	0.533000	0.62120	.		0.323	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	Intron	7	24	0	0	0	3.86212e-05	0	7	24				
RYR2	6262	broad.mit.edu	37	1	237791344	237791344	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:237791344G>T	ENST00000366574.2	+	41	6721	c.6404G>T	c.(6403-6405)gGc>gTc	p.G2135V	RYR2_ENST00000542537.1_Missense_Mutation_p.G2119V|RYR2_ENST00000360064.6_Missense_Mutation_p.G2133V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2135	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.G2133V(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)			GTGAGAATGGGCAAAGAAGAA	0.433																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(6403-6405)GGC>GTC		cardiac muscle ryanodine receptor							109.0	119.0	116.0					1																	237791344		1993	4157	6150	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.chr1:237791344G>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.6404G>T	1.37:g.237791344G>T	ENSP00000355533:p.Gly2135Val						p.G2135V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		41	6524	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2135			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6404G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894450	0.91889	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95377	-3.69;-3.69;-3.69	5.53	5.53	0.82687	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000004	D	0.97567	0.9203	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97909	1.0307	10	0.87932	D	0	-11.2243	19.8167	0.96571	0.0:0.0:1.0:0.0	.	2135	Q92736	RYR2_HUMAN	V	2135;2133;2119	ENSP00000355533:G2135V;ENSP00000353174:G2133V;ENSP00000443798:G2119V	ENSP00000353174:G2133V	G	+	2	0	RYR2	235857967	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.762000	0.94881	0.591000	0.81541	GGC		0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		43	20	1	0	1.11015e-26	0.000147903	2.84463e-25	43	20				
RYR2	6262	broad.mit.edu	37	1	237843766	237843766	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:237843766C>A	ENST00000366574.2	+	62	9223	c.8906C>A	c.(8905-8907)cCt>cAt	p.P2969H	RYR2_ENST00000542537.1_Missense_Mutation_p.P2953H|RYR2_ENST00000360064.6_Missense_Mutation_p.P2967H|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2969					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.P2967H(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)			GTCGTTCTTCCTTTAATTGAT	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.(8905-8907)CCT>CAT		cardiac muscle ryanodine receptor							159.0	132.0	141.0					1																	237843766		1884	4112	5996	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.chr1:237843766C>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.8906C>A	1.37:g.237843766C>A	ENSP00000355533:p.Pro2969His					RYR2_uc010pxz.1_5'UTR	p.P2969H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		62	9026	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2969			Modulator (Potential).|Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.8906C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856710	0.91433	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;D;D	0.99080	-0.42;-5.39;-5.4	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000007	D	0.99354	0.9773	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99470	1.0945	10	0.87932	D	0	.	20.1551	0.98106	0.0:1.0:0.0:0.0	.	2969	Q92736	RYR2_HUMAN	H	2969;2967;2953	ENSP00000355533:P2969H;ENSP00000353174:P2967H;ENSP00000443798:P2953H	ENSP00000353174:P2967H	P	+	2	0	RYR2	235910389	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.760000	0.94817	0.655000	0.94253	CCT		0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		37	12	1	0	1.69901e-12	0.000191422	3.97592e-11	37	12				
RYR2	6262	broad.mit.edu	37	1	237886477	237886477	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:237886477C>A	ENST00000366574.2	+	74	10921	c.10604C>A	c.(10603-10605)cCa>cAa	p.P3535Q	RYR2_ENST00000542537.1_Missense_Mutation_p.P3519Q|RYR2_ENST00000360064.6_Missense_Mutation_p.P3533Q|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3535					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.P3533Q(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)			AAAGACTTACCAAACAGGACT	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.(10603-10605)CCA>CAA		cardiac muscle ryanodine receptor							191.0	178.0	182.0					1																	237886477		1873	4103	5976	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.chr1:237886477C>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.10604C>A	1.37:g.237886477C>A	ENSP00000355533:p.Pro3535Gln					RYR2_uc010pxz.1_Missense_Mutation_p.P490Q	p.P3535Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		74	10724	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3535					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10604C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898468	0.33535	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96232	-3.95;-3.91;-3.94	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000008	D	0.94258	0.8156	L	0.43152	1.355	0.80722	D	1	B	0.31485	0.325	B	0.33042	0.157	D	0.91934	0.5557	10	0.17369	T	0.5	-11.1675	20.275	0.98485	0.0:1.0:0.0:0.0	.	3535	Q92736	RYR2_HUMAN	Q	3535;3533;3519;490	ENSP00000355533:P3535Q;ENSP00000353174:P3533Q;ENSP00000443798:P3519Q	ENSP00000353174:P3533Q	P	+	2	0	RYR2	235953100	0.979000	0.34478	0.999000	0.59377	0.964000	0.63967	4.588000	0.60999	2.800000	0.96347	0.455000	0.32223	CCA		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	272	1	0	0.000442599	0.000442599	0.00887779	9	272				
WDR64	128025	broad.mit.edu	37	1	241946679	241946679	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:241946679G>C	ENST00000366552.2	+	22	2878	c.2671G>C	c.(2671-2673)Gta>Cta	p.V891L	WDR64_ENST00000437684.2_Missense_Mutation_p.V724L	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	891								p.V891L(1)|p.V444L(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CGATGGCTCAGTAAGGTAGGC	0.393																																							uc001hzf.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1330-1332)GTA>CTA		WD repeat domain 64							58.0	56.0	57.0					1																	241946679		2203	4300	6503	SO:0001583	missense	128025							g.chr1:241946679G>C	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2671G>C	1.37:g.241946679G>C	ENSP00000355510:p.Val891Leu					WDR64_uc001hzg.1_Missense_Mutation_p.V357L	p.V444L	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		12	1483	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	891			WD 12.		B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	ENST00000366552.2	37	c.1330G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.57|14.57	2.575573|2.575573	0.45902|0.45902	.|.	.|.	ENSG00000162843|ENSG00000162843	ENST00000425826|ENST00000366552;ENST00000437684;ENST00000414635	.|T;T;T	.|0.43688	.|2.1;0.94;4.92	5.82|5.82	3.94|3.94	0.45596|0.45596	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.199000	.|0.34879	.|N	.|0.003609	T|T	0.41627|0.41627	0.1167|0.1167	M|M	0.64260|0.64260	1.97|1.97	0.23406|0.23406	N|N	0.997747|0.997747	.|B;P	.|0.39883	.|0.166;0.693	.|B;B	.|0.40659	.|0.09;0.336	T|T	0.37842|0.37842	-0.9688|-0.9688	5|10	.|0.51188	.|T	.|0.08	-13.9559|-13.9559	10.3252|10.3252	0.43790|0.43790	0.1571:0.0:0.8429:0.0|0.1571:0.0:0.8429:0.0	.|.	.|891;444	.|B1ANS9;D1MPS4	.|WDR64_HUMAN;.	H|L	369|891;724;495	.|ENSP00000355510:V891L;ENSP00000402446:V724L;ENSP00000406656:V495L	.|ENSP00000355510:V891L	Q|V	+|+	3|1	2|0	WDR64|WDR64	240013302|240013302	0.981000|0.981000	0.34729|0.34729	1.000000|1.000000	0.80357|0.80357	0.676000|0.676000	0.39594|0.39594	1.605000|1.605000	0.36815|0.36815	1.485000|1.485000	0.48380|0.48380	0.655000|0.655000	0.94253|0.94253	CAG|GTA		0.393	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		3	32	0	0	0	6.4e-05	0	3	32				
PLD5	200150	broad.mit.edu	37	1	242253166	242253167	+	Missense_Mutation	DNP	CG	CG	AT	rs140318994|rs147065464	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:242253166_242253167CG>AT	ENST00000536534.2	-	10	1841_1842	c.1600_1601CG>AT	c.(1600-1602)CGg>ATg	p.R534M	PLD5_ENST00000442594.2_Missense_Mutation_p.R442M|PLD5_ENST00000427495.1_Missense_Mutation_p.R472M			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	534						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.R534M(1)|p.R442M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTATACGTTCCGGGGATCCTTT	0.426																																							uc001hzn.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)	6						c.(1600-1602)CGG>ATG		RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;																																				SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242253166_242253167CG>AT	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1600_1601delinsAT	1.37:g.242253166_242253167delinsAT	ENSP00000440896:p.Arg534Met					PLD5_uc001hzl.3_Missense_Mutation_p.R472M|PLD5_uc001hzm.3_Missense_Mutation_p.R324M|PLD5_uc001hzo.1_Missense_Mutation_p.R442M	p.R534M			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		10	1727_1728	-	Melanoma(84;0.242)		534					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	DNP	ENST00000536534.2	37	c.1600_1601CG>AT	CCDS1621.2																																																																																				0.426	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		11	258	0	0	0	6.4e-05	0	11	258				
KIF26B	55083	broad.mit.edu	37	1	245850296	245850296	+	Silent	SNP	C	C	G	rs114792430	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:245850296C>G	ENST00000407071.2	+	12	4451	c.4011C>G	c.(4009-4011)ccC>ccG	p.P1337P	KIF26B_ENST00000366518.4_Silent_p.P956P	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1337					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.P1337P(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGCCAGCCCCGACAACTTGC	0.562																																							uc001ibf.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(4009-4011)CCC>CCG		kinesin family member 26B							48.0	53.0	51.0					1																	245850296		2058	4216	6274	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245850296C>G	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4011C>G	1.37:g.245850296C>G						KIF26B_uc001ibg.1_Silent_p.P955P|KIF26B_uc001ibh.1_Silent_p.P579P	p.P1337P	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		12	4451	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1337					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.4011C>G	CCDS44342.1																																																																																				0.562	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		3	20	0	0	0	6.4e-05	0	3	20				
NLRP3	114548	broad.mit.edu	37	1	247588607	247588607	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:247588607T>A	ENST00000336119.3	+	3	2608	c.1862T>A	c.(1861-1863)cTg>cAg	p.L621Q	NLRP3_ENST00000366496.2_Missense_Mutation_p.L621Q|NLRP3_ENST00000391827.2_Missense_Mutation_p.L621Q|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.L621Q|NLRP3_ENST00000366497.2_Missense_Mutation_p.L621Q|NLRP3_ENST00000348069.2_Missense_Mutation_p.L621Q	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	621					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.L621Q(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCTAAAAAGCTGCAGATCCAG	0.473																																							uc001icr.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(1861-1863)CTG>CAG		NLR family, pyrin domain containing 3 isoform a							47.0	47.0	47.0					1																	247588607		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247588607T>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.1862T>A	1.37:g.247588607T>A	ENSP00000337383:p.Leu621Gln					NLRP3_uc001ics.2_Missense_Mutation_p.L621Q|NLRP3_uc001icu.2_Missense_Mutation_p.L621Q|NLRP3_uc001icw.2_Missense_Mutation_p.L621Q|NLRP3_uc001icv.2_Missense_Mutation_p.L621Q|NLRP3_uc010pyw.1_Missense_Mutation_p.L619Q|NLRP3_uc001ict.1_Missense_Mutation_p.L619Q	p.L621Q	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	2000	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	621					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.1862T>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	T	9.219	1.033000	0.19590	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	3.96	2.82	0.32997	.	0.000000	0.40554	N	0.001065	D	0.89399	0.6704	M	0.64170	1.965	0.36345	D	0.8597	P;P;D;B;B	0.61080	0.939;0.814;0.989;0.198;0.23	P;P;P;B;B	0.61397	0.682;0.735;0.888;0.176;0.085	D	0.86653	0.1899	10	0.12103	T	0.63	.	6.2165	0.20658	0.0:0.1134:0.0:0.8866	.	621;621;621;621;621	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	Q	621	ENSP00000375704:L621Q;ENSP00000355453:L621Q;ENSP00000337383:L621Q;ENSP00000294752:L621Q;ENSP00000355452:L621Q;ENSP00000375703:L621Q	ENSP00000337383:L621Q	L	+	2	0	NLRP3	245655230	0.000000	0.05858	0.976000	0.42696	0.929000	0.56500	0.352000	0.20113	0.864000	0.35578	0.533000	0.62120	CTG		0.473	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		38	15	0	0	0	0.000191422	0	38	15				
OR2L13	284521	broad.mit.edu	37	1	248153852	248153852	+	Intron	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:248153852G>A	ENST00000366478.2	+	1	194					NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(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)			CTCCTTCACTGGGTGTGGGAT	0.423																																							uc001idv.1		NA																	0					0						c.(40-42)GGG>AGG		RecName: Full=Olfactory receptor 2L5; AltName: Full=Olfactory receptor OR1-53;																																				SO:0001627	intron_variant	26247							g.chr1:248153852G>A	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	ENST00000366478.2:c.-144+53166G>A	1.37:g.248153852G>A						OR2L13_uc001ids.2_Intron	p.G14R	NR_002145						1	284	+								Q5VUR5	Missense_Mutation	SNP	ENST00000366478.2	37	c.40G>A	CCDS1637.1																																																																																				0.423	OR2L13-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_175911		103	28	0	0	0	0.000147903	0	103	28				
OR2L3	391192	broad.mit.edu	37	1	248224549	248224550	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:248224549_248224550TG>AT	ENST00000359959.3	+	1	566_567	c.566_567TG>AT	c.(565-567)aTG>aAT	p.M189N	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M189N(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	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)			CTGGCCTGCATGGACACCTGGG	0.475																																							uc001idx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(565-567)ATG>AAT		olfactory receptor, family 2, subfamily L,																																				SO:0001583	missense	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224549_248224550TG>AT	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	Exception_encountered	1.37:g.248224549_248224550delinsAT	ENSP00000353044:p.Met189Asn					OR2L13_uc001ids.2_Intron	p.M189N	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	566_567	+	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).		B9EH44	Missense_Mutation	DNP	ENST00000359959.3	37	c.566_567TG>AT	CCDS31104.1																																																																																				0.475	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		81	70	0	0	0	6.4e-05	0	81	70				
OR2T4	127074	broad.mit.edu	37	1	248525551	248525551	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:248525551C>A	ENST00000366475.1	+	1	669	c.669C>A	c.(667-669)gaC>gaA	p.D223E		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D223E(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCTGCTCAGACACCTCACTCT	0.473																																							uc001ieh.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(667-669)GAC>GAA		olfactory receptor, family 2, subfamily T,							177.0	171.0	173.0					1																	248525551		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525551C>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.669C>A	1.37:g.248525551C>A	ENSP00000355431:p.Asp223Glu						p.D223E	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	669	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		223			Extracellular (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.669C>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441316	0.43326	.	.	ENSG00000196944	ENST00000366475	T	0.00227	8.5	3.61	2.67	0.31697	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000152	T	0.00384	0.0012	M	0.79805	2.47	0.25228	N	0.989854	P	0.50066	0.931	P	0.55087	0.768	T	0.32745	-0.9895	10	0.72032	D	0.01	.	7.2657	0.26227	0.1642:0.7381:0.0:0.0978	.	223	Q8NH00	OR2T4_HUMAN	E	223	ENSP00000355431:D223E	ENSP00000355431:D223E	D	+	3	2	OR2T4	246592174	0.000000	0.05858	0.426000	0.26672	0.436000	0.31835	0.070000	0.14573	1.543000	0.49345	0.585000	0.79938	GAC		0.473	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		126	58	1	0	1.41866e-75	0.000147903	3.79782e-74	126	58				
NMT2	9397	broad.mit.edu	37	10	15172176	15172176	+	Silent	SNP	C	C	G	rs558545150		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:15172176C>G	ENST00000378165.4	-	7	935	c.855G>C	c.(853-855)gcG>gcC	p.A285A	NMT2_ENST00000540259.1_Silent_p.A97A|NMT2_ENST00000378150.1_Silent_p.A272A|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Silent_p.A272A	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	285					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)	p.A285A(1)		breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						GAACCACTCCCGCGGTGTACA	0.488																																					Melanoma(117;1345 1645 4130 12688 30625)	Melanoma(117;1345 1645 4130 12688 30625)	uc001inz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(853-855)GCG>GCC		N-myristoyltransferase 2							154.0	146.0	149.0					10																	15172176		2203	4300	6503	SO:0001819	synonymous_variant	9397				N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity	g.chr10:15172176C>G	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.855G>C	10.37:g.15172176C>G						NMT2_uc001ioa.1_Silent_p.A272A|NMT2_uc009xjo.1_Silent_p.A285A|NMT2_uc010qbz.1_Silent_p.A97A	p.A285A	NM_004808	NP_004799	O60551	NMT2_HUMAN			7	939	-			285					B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Silent	SNP	ENST00000378165.4	37	c.855G>C	CCDS7109.1																																																																																				0.488	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046958.2	NM_004808		4	144	0	0	0	1.23904e-05	0	4	144				
PTER	9317	broad.mit.edu	37	10	16528530	16528530	+	Silent	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:16528530G>A	ENST00000378000.1	+	4	858	c.612G>A	c.(610-612)cgG>cgA	p.R204R	PTER_ENST00000298942.3_Silent_p.R204R|PTER_ENST00000535784.2_Silent_p.R204R|PTER_ENST00000485788.1_3'UTR|PTER_ENST00000423462.2_Silent_p.R204R	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	204					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)	p.R204R(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						ATCCTGGACGGAGCTCCAGGG	0.507																																					Ovarian(2;46 150 15648 38137 47908)	Ovarian(2;46 150 15648 38137 47908)	uc001iog.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(610-612)CGG>CGA		phosphotriesterase related							103.0	97.0	99.0					10																	16528530		2203	4300	6503	SO:0001819	synonymous_variant	9317				catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	g.chr10:16528530G>A	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.612G>A	10.37:g.16528530G>A						PTER_uc001ioh.1_Silent_p.R204R|PTER_uc001ioi.1_Silent_p.R204R|PTER_uc009xjp.1_Silent_p.R204R	p.R204R	NM_030664	NP_109589	Q96BW5	PTER_HUMAN			4	819	+			204					B0YJ77|B3KTF5|D3DRU0|Q9BY46	Silent	SNP	ENST00000378000.1	37	c.612G>A	CCDS7111.1																																																																																				0.507	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		45	69	0	0	0	0.000125731	0	45	69				
MLLT10	8028	broad.mit.edu	37	10	22021940	22021940	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:22021940G>T	ENST00000307729.7	+	18	2509	c.2331G>T	c.(2329-2331)caG>caT	p.Q777H	MLLT10_ENST00000377059.3_Missense_Mutation_p.Q777H|MLLT10_ENST00000377072.3_Missense_Mutation_p.Q793H|MLLT10_ENST00000446906.2_Missense_Mutation_p.Q777H			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	777	Leucine-zipper.|Transactivation domain; required for DOT1L-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q793H(1)|p.Q777H(1)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGAATGCACAGCTTTCAGTGC	0.363			T	"""MLL, PICALM, CDK6"""	AL																																		uc001iqs.2		NA		Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	MLL|PICALM|CDK6		AL		2	Substitution - Missense(2)		lung(2)	lung(1)|skin(1)	2						c.(2377-2379)CAG>CAT		myeloid/lymphoid or mixed-lineage leukemia							104.0	100.0	101.0					10																	22021940		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22021940G>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2331G>T	10.37:g.22021940G>T	ENSP00000307411:p.Gln777His					MLLT10_uc001iqt.2_Missense_Mutation_p.Q777H|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.Q777H|MLLT10_uc001ira.2_Missense_Mutation_p.Q234H|MLLT10_uc001irb.2_RNA	p.Q793H	NM_004641	NP_004632	P55197	AF10_HUMAN			19	2727	+			793			Leucine-zipper.|Transactivation domain.		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.2379G>T	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031841	0.75504	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.14516	2.5;2.5;2.5;2.5	6.01	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.71674	0.998;0.996;0.998;0.996	D;D;D;D	0.80764	0.994;0.986;0.928;0.986	T	0.02837	-1.1104	10	0.87932	D	0	.	11.0348	0.47793	0.1981:0.0:0.8019:0.0	.	472;777;777;793	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	H	793;777;777;612;777	ENSP00000366272:Q793H;ENSP00000401406:Q777H;ENSP00000307411:Q777H;ENSP00000366258:Q777H	ENSP00000307411:Q777H	Q	+	3	2	MLLT10	22061946	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.579000	0.53900	0.457000	0.26962	0.655000	0.94253	CAG		0.363	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			24	57	1	0	1.12875e-08	0.000147802	2.55875e-07	24	57				
YME1L1	10730	broad.mit.edu	37	10	27437844	27437844	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:27437844G>C	ENST00000326799.3	-	2	307	c.159C>G	c.(157-159)ccC>ccG	p.P53P	YME1L1_ENST00000375972.3_Silent_p.P53P|YME1L1_ENST00000376016.3_Silent_p.P53P|YME1L1_ENST00000477432.1_Silent_p.P53P	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	53					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.P53P(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CCTCACTGCTGGGAGCCTCAT	0.433																																							uc001iti.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(157-159)CCC>CCG		YME1-like 1 isoform 1							172.0	171.0	171.0					10																	27437844		2203	4300	6503	SO:0001819	synonymous_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27437844G>C	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.159C>G	10.37:g.27437844G>C						YME1L1_uc001itj.2_Silent_p.P53P|YME1L1_uc010qdl.1_Silent_p.P53P|YME1L1_uc009xkv.2_RNA|YME1L1_uc001itk.1_Silent_p.P53P	p.P53P	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN			2	341	-			53					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.159C>G	CCDS7152.1																																																																																				0.433	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		6	259	0	0	0	3.59834e-05	0	6	259				
CSGALNACT2	55454	broad.mit.edu	37	10	43678849	43678849	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:43678849C>G	ENST00000374466.3	+	8	1823	c.1488C>G	c.(1486-1488)ccC>ccG	p.P496P		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	496					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.P496P(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGCTGACCCCCGAGCAGTACC	0.517																																							uc001jan.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1486-1488)CCC>CCG		chondroitin sulfate							135.0	132.0	133.0					10																	43678849		2203	4300	6503	SO:0001819	synonymous_variant	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43678849C>G	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1488C>G	10.37:g.43678849C>G							p.P496P	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN			8	1823	+			496			Lumenal (Potential).		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Silent	SNP	ENST00000374466.3	37	c.1488C>G	CCDS7201.1																																																																																				0.517	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		4	170	0	0	0	3.59834e-05	0	4	170				
AGAP6	414189	broad.mit.edu	37	10	51749117	51749117	+	Intron	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:51749117G>A	ENST00000374056.4	+	1	621				AGAP6_ENST00000412531.3_Silent_p.Q91Q			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.Q91Q(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CAATATTCCAGAGGAACTCTC	0.358																																							uc001jix.3		NA																	1	Substitution - coding silent(1)		prostate(1)	skin(1)	1						c.(271-273)CAG>CAA		ArfGAP with GTPase domain, ankyrin repeat and PH																																				SO:0001627	intron_variant	414189				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51749117G>A		CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.223+419G>A	10.37:g.51749117G>A							p.Q91Q	NM_001077665	NP_001071133	Q5VW22	AGAP6_HUMAN			2	671	+			91						Silent	SNP	ENST00000374056.4	37	c.273G>A																																																																																					0.358	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001077665		8	122	0	0	0	3.86212e-05	0	8	122				
BICC1	80114	broad.mit.edu	37	10	60549475	60549475	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:60549475G>C	ENST00000373886.3	+	8	833	c.829G>C	c.(829-831)Ggg>Cgg	p.G277R		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	277					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.G277R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ACATCTTGCTGGGAGCTTAGC	0.403																																							uc001jki.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(829-831)GGG>CGG		bicaudal C homolog 1							195.0	183.0	187.0					10																	60549475		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60549475G>C	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.829G>C	10.37:g.60549475G>C	ENSP00000362993:p.Gly277Arg						p.G277R	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN			8	829	+			277						Missense_Mutation	SNP	ENST00000373886.3	37	c.829G>C	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152491	0.78001	.	.	ENSG00000122870	ENST00000373886	T	0.43294	0.95	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.65333	0.2681	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63466	-0.6631	10	0.48119	T	0.1	-11.5309	19.7848	0.96432	0.0:0.0:1.0:0.0	.	277	Q9H694	BICC1_HUMAN	R	277	ENSP00000362993:G277R	ENSP00000362993:G277R	G	+	1	0	BICC1	60219481	1.000000	0.71417	0.963000	0.40424	0.382000	0.30200	9.731000	0.98807	2.673000	0.90976	0.655000	0.94253	GGG		0.403	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		5	247	0	0	0	3.59834e-05	0	5	247				
FAM13C	220965	broad.mit.edu	37	10	61011413	61011414	+	Missense_Mutation	DNP	CG	CG	AT	rs149458856		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:61011413_61011414CG>AT	ENST00000373868.2	-	13	1642_1643	c.1555_1556CG>AT	c.(1555-1557)CGa>ATa	p.R519I	FAM13C_ENST00000373867.3_Missense_Mutation_p.R435I|FAM13C_ENST00000419214.2_Missense_Mutation_p.R421I|FAM13C_ENST00000468840.2_Missense_Mutation_p.R436I|FAM13C_ENST00000442566.3_Missense_Mutation_p.R540I|FAM13C_ENST00000435852.2_Missense_Mutation_p.R519I|FAM13C_ENST00000277705.6_Missense_Mutation_p.R539I	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	519								p.R519I(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCTAGTTTCTCGGAGATGGTCA	0.401																																							uc001jkn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1555-1557)CGA>ATA		hypothetical protein LOC220965 isoform 1																																				SO:0001583	missense	220965							g.chr10:61011413_61011414CG>AT	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1555_1556delinsAT	10.37:g.61011413_61011414delinsAT	ENSP00000362975:p.Arg519Ile					FAM13C_uc001jko.2_Missense_Mutation_p.R421I|FAM13C_uc010qid.1_Missense_Mutation_p.R435I|FAM13C_uc010qie.1_Missense_Mutation_p.R436I|FAM13C_uc010qif.1_Missense_Mutation_p.R541I	p.R519I	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			14	1689_1690	-			519					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	DNP	ENST00000373868.2	37	c.1555_1556CG>AT	CCDS7255.1																																																																																				0.401	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			6	247	0	0	0	6.4e-05	0	6	247				
ANK3	288	broad.mit.edu	37	10	61941095	61941095	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:61941095G>C	ENST00000280772.2	-	18	2367	c.2176C>G	c.(2176-2178)Cag>Gag	p.Q726E	ANK3_ENST00000373827.2_Missense_Mutation_p.Q720E|ANK3_ENST00000503366.1_Missense_Mutation_p.Q709E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	726					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.Q726E(1)|p.Q387E(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACCTTTGTCTGGGCGTCCACA	0.498																																							uc001jky.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(2176-2178)CAG>GAG		ankyrin 3 isoform 1							190.0	173.0	179.0					10																	61941095		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61941095G>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2176C>G	10.37:g.61941095G>C	ENSP00000280772:p.Gln726Glu					ANK3_uc010qih.1_Missense_Mutation_p.Q709E|ANK3_uc001jkz.3_Missense_Mutation_p.Q720E|ANK3_uc001jlb.1_Missense_Mutation_p.Q255E|ANK3_uc001jlc.1_Missense_Mutation_p.Q387E	p.Q726E	NM_020987	NP_066267	Q12955	ANK3_HUMAN			18	2368	-			726					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.2176C>G	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	1.789	-0.479956	0.04383	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000395293;ENST00000395304;ENST00000536348	T;T;T	0.64260	-0.09;-0.09;-0.09	5.97	5.97	0.96955	Ankyrin repeat-containing domain (4);	0.623726	0.13275	N	0.400198	T	0.47414	0.1444	N	0.12746	0.255	0.80722	D	1	B;B;B;B;B	0.10296	0.0;0.0;0.001;0.002;0.003	B;B;B;B;B	0.18871	0.003;0.005;0.005;0.023;0.012	T	0.30966	-0.9960	10	0.32370	T	0.25	.	15.175	0.72903	0.0:0.0:0.859:0.141	.	709;387;270;720;726	E9PE32;E7EMJ1;Q59G01;Q5CZH9;Q12955	.;.;.;.;ANK3_HUMAN	E	726;720;709;688;387;382;270	ENSP00000280772:Q726E;ENSP00000362933:Q720E;ENSP00000425236:Q709E	ENSP00000280772:Q726E	Q	-	1	0	ANK3	61611101	1.000000	0.71417	0.997000	0.53966	0.434000	0.31775	4.557000	0.60782	2.828000	0.97474	0.655000	0.94253	CAG		0.498	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		6	214	0	0	0	3.59834e-05	0	6	214				
GRID1	2894	broad.mit.edu	37	10	87614258	87614258	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:87614258G>T	ENST00000327946.7	-	8	1313	c.1228C>A	c.(1228-1230)Cgc>Agc	p.R410S		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	410					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R410S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CTTACCTTGCGCATGTCTTTG	0.512										Multiple Myeloma(13;0.14)																													uc001kdl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(1228-1230)CGC>AGC		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						129.0	112.0	118.0					10																	87614258		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87614258G>T	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1228C>A	10.37:g.87614258G>T	ENSP00000330148:p.Arg410Ser	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.R410S	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			8	1329	-			410			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.1228C>A	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633737	0.47049	.	.	ENSG00000182771	ENST00000327946	D	0.86562	-2.14	5.79	3.93	0.45458	.	0.558823	0.17213	N	0.182625	T	0.74099	0.3672	N	0.14661	0.345	0.80722	D	1	P	0.34724	0.465	B	0.26517	0.07	T	0.71279	-0.4640	10	0.52906	T	0.07	.	10.416	0.44322	0.0696:0.0:0.7963:0.1341	.	410	Q9ULK0	GRID1_HUMAN	S	410	ENSP00000330148:R410S	ENSP00000330148:R410S	R	-	1	0	GRID1	87604238	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.806000	0.62569	0.782000	0.33613	0.563000	0.77884	CGC		0.512	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		25	42	1	0	1.32181e-22	0.000184323	3.31295e-21	25	42				
GLUD1	2746	broad.mit.edu	37	10	88827869	88827869	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:88827869C>G	ENST00000277865.4	-	5	788	c.692G>C	c.(691-693)cGg>cCg	p.R231P	GLUD1_ENST00000544149.1_Missense_Mutation_p.R98P|GLUD1_ENST00000537649.1_Missense_Mutation_p.R64P	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	231					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)	p.R231Q(1)|p.R231P(1)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	GGACATCTCCCGCTCACCTGT	0.532																																							uc001keh.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(691-693)CGG>CCG		glutamate dehydrogenase 1 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						81.0	71.0	74.0					10																	88827869		2203	4300	6503	SO:0001583	missense	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88827869C>G	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.692G>C	10.37:g.88827869C>G	ENSP00000277865:p.Arg231Pro					GLUD1_uc001keg.2_Missense_Mutation_p.R64P|GLUD1_uc010qmp.1_Missense_Mutation_p.R98P	p.R231P	NM_005271	NP_005262	P00367	DHE3_HUMAN			5	789	-			231					B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	c.692G>C	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643751	0.87859	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000513510;ENST00000544149	D;D;D	0.97575	-4.44;-4.41;-4.41	5.17	4.27	0.50696	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.000000	0.85682	D	0.000000	D	0.99017	0.9664	H	0.98199	4.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98997	1.0810	10	0.87932	D	0	.	13.5102	0.61508	0.0:0.9244:0.0:0.0756	.	98;231	B4DGN5;P00367	.;DHE3_HUMAN	P	231;188;64;163;98	ENSP00000277865:R231P;ENSP00000439291:R64P;ENSP00000444732:R98P	ENSP00000277865:R231P	R	-	2	0	GLUD1	88817849	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.799000	0.85936	1.199000	0.43173	0.591000	0.81541	CGG		0.532	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		4	48	0	0	0	3.59834e-05	0	4	48				
MYOF	26509	broad.mit.edu	37	10	95211878	95211879	+	Missense_Mutation	DNP	CC	CC	AA	rs370389342		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:95211878_95211879CC>AA	ENST00000359263.4	-	3	163_164	c.164_165GG>TT	c.(163-165)aGG>aTT	p.R55I	MYOF_ENST00000358334.5_Missense_Mutation_p.R55I|MYOF_ENST00000371488.3_Missense_Mutation_p.R55I|MYOF_ENST00000371501.4_Missense_Mutation_p.R55I|MYOF_ENST00000371502.4_Missense_Mutation_p.R55I|MYOF_ENST00000371489.1_Missense_Mutation_p.R55I	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	55	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.R55I(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTGGTATACCCCTCAAGTCAAA	0.356																																							uc001kin.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(163-165)AGG>ATT		myoferlin isoform a																																				SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95211878_95211879CC>AA	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.164_165delinsAA	10.37:g.95211878_95211879delinsAA	ENSP00000352208:p.Arg55Ile					MYOF_uc001kio.2_Missense_Mutation_p.R55I|MYOF_uc001kip.3_Missense_Mutation_p.R55I|MYOF_uc009xuf.2_Missense_Mutation_p.R37I	p.R55I	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			3	287_288	-			55			C2 1.|Cytoplasmic (Potential).		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	DNP	ENST00000359263.4	37	c.164_165GG>TT	CCDS41551.1																																																																																				0.356	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		9	276	0	0	0	6.4e-05	0	9	276				
EXOSC1	51013	broad.mit.edu	37	10	99203015	99203015	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:99203015C>G	ENST00000370902.3	-	3	232	c.201G>C	c.(199-201)gtG>gtC	p.V67V	ZDHHC16_ENST00000370842.2_5'Flank|ZDHHC16_ENST00000370854.3_5'Flank|EXOSC1_ENST00000485122.2_Silent_p.V67V|EXOSC1_ENST00000370885.4_Intron|EXOSC1_ENST00000471049.1_5'UTR|ZDHHC16_ENST00000353979.3_5'Flank|ZDHHC16_ENST00000393760.1_5'Flank|ZDHHC16_ENST00000352634.4_5'Flank|ZDHHC16_ENST00000370846.4_5'Flank|EXOSC1_ENST00000370886.5_Silent_p.V67V|ZDHHC16_ENST00000345745.5_5'Flank	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1	67	S1 motif.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.V67V(1)		breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		CAATAGCTCCCACATCTGGCA	0.458																																							uc001kni.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(199-201)GTG>GTC		exosomal core protein CSL4							289.0	264.0	272.0					10																	99203015		2203	4300	6503	SO:0001819	synonymous_variant	51013				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	protein binding|RNA binding	g.chr10:99203015C>G	AF151866	CCDS7459.1	10q24	2004-03-26			ENSG00000171311	ENSG00000171311			17286	protein-coding gene	gene with protein product	"""CSL4 exosomal core protein homolog (yeast)"""	606493				11812149, 11719186	Standard	XR_246092		Approved	hCsl4p, Csl4p, CSL4, Ski4p, SKI4, CGI-108, p13	uc001kni.3	Q9Y3B2	OTTHUMG00000018854	ENST00000370902.3:c.201G>C	10.37:g.99203015C>G						EXOSC1_uc009xvp.1_Intron|ZDHHC16_uc001knp.2_5'Flank|ZDHHC16_uc001knk.2_5'Flank|ZDHHC16_uc001knl.2_5'Flank|ZDHHC16_uc001knm.2_5'Flank|ZDHHC16_uc001knn.2_5'Flank|ZDHHC16_uc010qow.1_5'Flank|ZDHHC16_uc009xvq.2_5'Flank|ZDHHC16_uc001kno.2_5'Flank|ZDHHC16_uc001knj.2_5'Flank	p.V67V	NM_016046	NP_057130	Q9Y3B2	EXOS1_HUMAN		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)	3	227	-		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)	67			S1 motif.		B2R9B3|Q5JTH3	Silent	SNP	ENST00000370902.3	37	c.201G>C	CCDS7459.1																																																																																				0.458	EXOSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049680.1			6	266	0	0	0	8.12818e-05	0	6	266				
HOGA1	112817	broad.mit.edu	37	10	99371273	99371273	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:99371273C>G	ENST00000370646.4	+	7	1202	c.841C>G	c.(841-843)Cgg>Ggg	p.R281G	HOGA1_ENST00000370647.4_Missense_Mutation_p.R118G|PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron	NM_138413.3	NP_612422.2	Q86XE5	HOGA1_HUMAN	4-hydroxy-2-oxoglutarate aldolase 1	281					4-hydroxyproline catabolic process (GO:0019470)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|oxalate metabolic process (GO:0033609)|pyruvate biosynthetic process (GO:0042866)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	4-hydroxy-2-oxoglutarate aldolase activity (GO:0008700)|protein homodimerization activity (GO:0042803)	p.R281G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						GCAGGTGACCCGGCGCTTTGG	0.552																																							uc001kny.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(841-843)CGG>GGG		DHDPS-like protein isoform 1							60.0	64.0	63.0					10																	99371273		2203	4300	6503	SO:0001583	missense	112817				glyoxylate catabolic process	mitochondrion	4-hydroxy-2-oxoglutarate aldolase activity	g.chr10:99371273C>G	BC011916	CCDS7467.1, CCDS44469.1	10q24.1	2010-12-19	2010-12-19	2010-12-19	ENSG00000241935	ENSG00000241935			25155	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 2 (E. coli)"", ""N-acetylneuraminate pyruvate lyase 2 (putative)"""	613597	"""chromosome 10 open reading frame 65"", ""dihydrodipicolinate synthase-like, mitochondrial"""	C10orf65, DHDPSL		20797690	Standard	NM_001134670		Approved	FLJ37472, DHDPS2, NPL2		Q86XE5	OTTHUMG00000018859	ENST00000370646.4:c.841C>G	10.37:g.99371273C>G	ENSP00000359680:p.Arg281Gly					DHDPSL_uc001knz.2_Missense_Mutation_p.R118G|PI4K2A_uc010qoy.1_Intron	p.R281G	NM_138413	NP_612422	Q86XE5	HOGA1_HUMAN			7	1200	+			281					A8K075|Q5T680|Q5T684|Q711P0|Q8N9F2|Q96EV5	Missense_Mutation	SNP	ENST00000370646.4	37	c.841C>G	CCDS7467.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316834	0.23908	.	.	ENSG00000241935	ENST00000370647;ENST00000370646	D;D	0.95238	-3.65;-3.65	5.34	4.42	0.53409	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.92642	0.7662	L	0.38838	1.175	0.48632	D	0.999685	D;B	0.52996	0.957;0.06	P;B	0.49708	0.62;0.025	D	0.90665	0.4593	10	0.26408	T	0.33	-8.924	14.8602	0.70376	0.1449:0.855:0.0:0.0	.	118;281	Q86XE5-3;Q86XE5	.;HOGA1_HUMAN	G	118;281	ENSP00000359681:R118G;ENSP00000359680:R281G	ENSP00000359680:R281G	R	+	1	2	HOGA1	99361263	0.998000	0.40836	0.996000	0.52242	0.087000	0.18053	2.890000	0.48609	1.218000	0.43458	0.655000	0.94253	CGG		0.552	HOGA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049726.1	NM_138413		4	106	0	0	0	3.59834e-05	0	4	106				
PSD	5662	broad.mit.edu	37	10	104171930	104171930	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:104171930C>G	ENST00000020673.5	-	7	2329	c.1803G>C	c.(1801-1803)acG>acC	p.T601T	PSD_ENST00000406432.1_Silent_p.T601T	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	601	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GAGTCATGCCCGTGAAGACAA	0.582																																							uc001kvg.1		NA																	0				breast(2)|urinary_tract(1)	3						c.(1801-1803)ACG>ACC		pleckstrin and Sec7 domain containing							150.0	172.0	165.0					10																	104171930		2203	4300	6503	SO:0001819	synonymous_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104171930C>G	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1803G>C	10.37:g.104171930C>G						PSD_uc001kvf.1_5'Flank|PSD_uc001kvh.1_Silent_p.T222T|PSD_uc009xxd.1_Silent_p.T601T	p.T601T	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	7	2330	-			601			SEC7.		B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	ENST00000020673.5	37	c.1803G>C	CCDS31272.1																																																																																				0.582	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			5	156	0	0	0	8.12818e-05	0	5	156				
GFRA1	2674	broad.mit.edu	37	10	117849334	117849334	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:117849334C>G	ENST00000355422.6	-	9	1665	c.1115G>C	c.(1114-1116)cGg>cCg	p.R372P	GFRA1_ENST00000369236.1_Missense_Mutation_p.R367P|GFRA1_ENST00000544592.1_Missense_Mutation_p.R251P|GFRA1_ENST00000439649.3_Missense_Mutation_p.R367P	NM_005264.4	NP_005255.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	372					axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)|receptor binding (GO:0005102)	p.R367P(1)		endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GTTCTTAACCCGGAGGGCAGT	0.542																																					Ovarian(128;329 1725 45498 46808 50759)	Ovarian(128;329 1725 45498 46808 50759)	uc001lcj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1114-1116)CGG>CCG		GDNF family receptor alpha 1 isoform a							65.0	65.0	65.0					10																	117849334		2203	4300	6503	SO:0001583	missense	2674				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr10:117849334C>G	AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892			4243	protein-coding gene	gene with protein product		601496		GDNFRA		9465905, 9545641	Standard	NM_005264		Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000355422.6:c.1115G>C	10.37:g.117849334C>G	ENSP00000347591:p.Arg372Pro					GFRA1_uc001lci.2_Missense_Mutation_p.R367P|GFRA1_uc009xyr.2_Missense_Mutation_p.R367P	p.R372P	NM_005264	NP_005255	P56159	GFRA1_HUMAN		all cancers(201;0.0337)	9	1813	-		Lung NSC(174;0.21)	372					A8KA21|O15507|O43912	Missense_Mutation	SNP	ENST00000355422.6	37	c.1115G>C	CCDS44481.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.322675	0.60634	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000544592;ENST00000369234	T;T	0.50001	1.38;0.76	6.17	6.17	0.99709	.	0.165429	0.50627	D	0.000107	T	0.59432	0.2193	L	0.39397	1.21	0.58432	D	0.99999	D;D	0.65815	0.995;0.994	P;P	0.59889	0.795;0.865	T	0.58036	-0.7707	10	0.72032	D	0.01	-18.4355	19.0599	0.93085	0.0:1.0:0.0:0.0	.	372;367	P56159;P56159-2	GFRA1_HUMAN;.	P	372;367;367;251;367	ENSP00000358239:R367P;ENSP00000442179:R251P	ENSP00000347591:R367P	R	-	2	0	GFRA1	117839324	1.000000	0.71417	0.996000	0.52242	0.479000	0.33129	2.521000	0.45563	2.941000	0.99782	0.655000	0.94253	CGG		0.542	GFRA1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050512.2	NM_145793		3	59	0	0	0	0.00024832	0	3	59				
KCNK18	338567	broad.mit.edu	37	10	118957090	118957090	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:118957090G>C	ENST00000334549.1	+	1	91	c.91G>C	c.(91-93)Gtg>Ctg	p.V31L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	31					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.V31L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CTGCTTTCTGGTGACCTACGC	0.607																																							uc010qsr.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(91-93)GTG>CTG		potassium channel, subfamily K, member 18							92.0	77.0	82.0					10																	118957090		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118957090G>C	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.91G>C	10.37:g.118957090G>C	ENSP00000334650:p.Val31Leu						p.V31L	NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	1	91	+		Colorectal(252;0.19)	31			Helical; (Potential).		Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.91G>C	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083458	0.55861	.	.	ENSG00000186795	ENST00000334549	T	0.20598	2.06	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.16727	0.0402	L	0.32530	0.975	0.45272	D	0.998275	P	0.39480	0.675	B	0.37047	0.24	T	0.03175	-1.1064	10	0.33141	T	0.24	.	14.517	0.67826	0.0:0.0:1.0:0.0	.	31	Q7Z418	KCNKI_HUMAN	L	31	ENSP00000334650:V31L	ENSP00000334650:V31L	V	+	1	0	KCNK18	118947080	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.407000	0.59754	2.665000	0.90641	0.561000	0.74099	GTG		0.607	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		18	27	0	0	0	9.7654e-05	0	18	27				
RAB11FIP2	22841	broad.mit.edu	37	10	119798562	119798562	+	Missense_Mutation	SNP	G	G	C	rs201534358		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:119798562G>C	ENST00000355624.3	-	3	1625	c.1186C>G	c.(1186-1188)Cgc>Ggc	p.R396G	RP11-354M20.3_ENST00000417968.4_RNA|RP11-354M20.3_ENST00000451610.2_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.R396G	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	396					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)	p.R396G(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TAGTCCTGGCGATTTTCACTA	0.373																																							uc001ldj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1186-1188)CGC>GGC		RAB11 family interacting protein 2							160.0	165.0	163.0					10																	119798562		2203	4300	6503	SO:0001583	missense	22841				protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity	g.chr10:119798562G>C	AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1186C>G	10.37:g.119798562G>C	ENSP00000347839:p.Arg396Gly					RAB11FIP2_uc009xyz.1_Missense_Mutation_p.R396G	p.R396G	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN		all cancers(201;0.0238)	3	1626	-		Colorectal(252;0.235)	396					A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	ENST00000355624.3	37	c.1186C>G	CCDS7602.1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750889	0.31046	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.64438	-0.08;-0.1	5.86	5.86	0.93980	.	0.510628	0.23575	N	0.046712	T	0.55369	0.1916	L	0.36672	1.1	0.32686	N	0.514874	B;B	0.32731	0.382;0.107	B;B	0.27380	0.079;0.019	T	0.62590	-0.6822	10	0.46703	T	0.11	-4.6389	20.5632	0.99335	0.0:0.0:1.0:0.0	.	396;396	Q3I768;Q7L804	.;RFIP2_HUMAN	G	396	ENSP00000347839:R396G;ENSP00000358200:R396G	ENSP00000347839:R396G	R	-	1	0	RAB11FIP2	119788552	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	5.188000	0.65093	2.937000	0.99478	0.650000	0.86243	CGC		0.373	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050583.1	NM_014904		51	88	0	0	0	0.000147903	0	51	88				
MCMBP	79892	broad.mit.edu	37	10	121600410	121600410	+	Missense_Mutation	SNP	C	C	G	rs368084321		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:121600410C>G	ENST00000360003.3	-	11	1362	c.1193G>C	c.(1192-1194)cGg>cCg	p.R398P	MCMBP_ENST00000369077.3_Missense_Mutation_p.R396P|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	398					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R398P(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GGTACTATTCCGTGGGCAACC	0.328																																							uc001ler.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1192-1194)CGG>CCG		chromosome 10 open reading frame 119							133.0	134.0	133.0					10																	121600410		2203	4300	6503	SO:0001583	missense	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121600410C>G	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1193G>C	10.37:g.121600410C>G	ENSP00000353098:p.Arg398Pro					C10orf119_uc001leq.1_Missense_Mutation_p.R223P|C10orf119_uc001les.1_Missense_Mutation_p.R223P	p.R398P	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN		all cancers(201;0.0044)	11	1491	-		Lung NSC(174;0.109)|all_lung(145;0.142)	398					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.1193G>C	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375201	0.42105	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.97	5.06	0.68205	.	0.230074	0.41938	D	0.000781	T	0.30262	0.0759	N	0.03608	-0.345	0.35033	D	0.758987	B	0.06786	0.001	B	0.08055	0.003	T	0.28618	-1.0038	9	0.29301	T	0.29	-13.6944	14.302	0.66359	0.0:0.9281:0.0:0.0719	.	398	Q9BTE3	MCMBP_HUMAN	P	398;396	.	ENSP00000353098:R398P	R	-	2	0	MCMBP	121590400	0.981000	0.34729	1.000000	0.80357	0.995000	0.86356	2.871000	0.48459	1.509000	0.48786	0.561000	0.74099	CGG		0.328	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		4	118	0	0	0	1.23904e-05	0	4	118				
FGFR2	2263	broad.mit.edu	37	10	123256051	123256052	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:123256051_123256052GG>TT	ENST00000358487.5	-	13	2129_2130	c.1857_1858CC>AA	c.(1855-1860)tcCCaa>tcAAaa	p.Q620K	FGFR2_ENST00000356226.4_Missense_Mutation_p.Q503K|FGFR2_ENST00000478859.1_Missense_Mutation_p.Q392K|FGFR2_ENST00000369060.4_Missense_Mutation_p.Q504K|FGFR2_ENST00000346997.2_Missense_Mutation_p.Q618K|FGFR2_ENST00000457416.2_Missense_Mutation_p.Q621K|FGFR2_ENST00000357555.5_Missense_Mutation_p.Q531K|FGFR2_ENST00000369056.1_Missense_Mutation_p.Q621K|FGFR2_ENST00000351936.6_Missense_Mutation_p.Q618K|FGFR2_ENST00000369059.1_Missense_Mutation_p.Q506K|FGFR2_ENST00000360144.3_Missense_Mutation_p.Q532K|FGFR2_ENST00000369061.4_Missense_Mutation_p.Q508K	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	620	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.S620S(1)|p.S617S(1)|p.S619S(1)|p.S530S(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	CTCACTTTTTGGGAAGCCAAGT	0.446		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																														uc010qtk.1		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	Crouzon|Pfeiffer|and Apert syndromes	E			gastric. NSCLC|endometrial		4	Substitution - coding silent(4)		lung(4)	endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96						c.(1855-1860)TCCCAA>TCAAAA		fibroblast growth factor receptor 2 isoform 1	Palifermin(DB00039)																																			SO:0001583	missense	2263	Apert_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123256051_123256052GG>TT	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1857_1858delinsTT	10.37:g.123256051_123256052delinsTT	ENSP00000351276:p.Gln620Lys					FGFR2_uc010qtg.1_Missense_Mutation_p.Q508K|FGFR2_uc010qth.1_Missense_Mutation_p.Q505K|FGFR2_uc010qti.1_Missense_Mutation_p.Q531K|FGFR2_uc010qtj.1_Missense_Mutation_p.Q621K|FGFR2_uc010qtl.1_Missense_Mutation_p.Q504K|FGFR2_uc010qtm.1_Missense_Mutation_p.Q503K|FGFR2_uc001lfl.3_Missense_Mutation_p.Q621K|FGFR2_uc001lfm.2_Missense_Mutation_p.Q532K|FGFR2_uc001lfg.3_Missense_Mutation_p.Q228K	p.Q620K	NM_000141	NP_000132	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	14	2504_2505	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	620			Cytoplasmic (Potential).|Protein kinase.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	DNP	ENST00000358487.5	37	c.1857_1858CC>AA	CCDS31298.1																																																																																				0.446	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		12	509	0	0	0	6.4e-05	0	12	509				
DMBT1	1755	broad.mit.edu	37	10	124339299	124339299	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:124339299C>G	ENST00000338354.3	+	10	991	c.885C>G	c.(883-885)ccC>ccG	p.P295P	DMBT1_ENST00000368956.2_Silent_p.P295P|DMBT1_ENST00000344338.3_Silent_p.P295P|DMBT1_ENST00000368909.3_Silent_p.P295P|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Silent_p.P295P|DMBT1_ENST00000368955.3_Silent_p.P295P			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	295	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.P295P(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTCAGGACCCATTGTCCTGG	0.597																																					Ovarian(182;93 2026 18125 22222 38972)	Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	3	Substitution - coding silent(3)		lung(3)	central_nervous_system(7)	7						c.(883-885)CCC>CCG		deleted in malignant brain tumors 1 isoform b							67.0	67.0	67.0					10																	124339299		1880	4077	5957	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124339299C>G		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.885C>G	10.37:g.124339299C>G						DMBT1_uc001lgl.1_Silent_p.P295P|DMBT1_uc001lgm.1_Silent_p.P295P|DMBT1_uc009xzz.1_Silent_p.P295P|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.P147P	p.P295P	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			10	991	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	295			SRCR 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.885C>G																																																																																					0.597	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		5	149	0	0	0	3.59834e-05	0	5	149				
FAM175B	23172	broad.mit.edu	37	10	126517402	126517402	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:126517402C>T	ENST00000298492.5	+	6	581	c.536C>T	c.(535-537)cCa>cTa	p.P179L		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	179					cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)	p.P179L(1)		NS(1)	1						TCTTCAGTGCCAAATACTTCT	0.353																																							uc001lib.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(535-537)CCA>CTA		hypothetical protein LOC23172							111.0	105.0	107.0					10																	126517402		2203	4300	6503	SO:0001583	missense	23172					BRISC complex	polyubiquitin binding	g.chr10:126517402C>T	D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"""Abraxas brother"""	611144	"""KIAA0157"""	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.536C>T	10.37:g.126517402C>T	ENSP00000298492:p.Pro179Leu						p.P179L	NM_032182	NP_115558	Q15018	F175B_HUMAN			6	581	+			179					B4DKR2|Q96H11	Missense_Mutation	SNP	ENST00000298492.5	37	c.536C>T	CCDS31308.2	.	.	.	.	.	.	.	.	.	.	C	32	5.174863	0.94807	.	.	ENSG00000165660	ENST00000298492	T	0.51574	0.7	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.67692	0.2920	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61987	-0.6949	10	0.40728	T	0.16	-13.6798	20.5948	0.99439	0.0:1.0:0.0:0.0	.	179	Q15018	F175B_HUMAN	L	179	ENSP00000298492:P179L	ENSP00000298492:P179L	P	+	2	0	FAM175B	126507392	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.474000	0.81024	2.873000	0.98535	0.563000	0.77884	CCA		0.353	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2	NM_032182		30	62	0	0	0	8.91981e-05	0	30	62				
MKI67	4288	broad.mit.edu	37	10	129906815	129906815	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr10:129906815G>C	ENST00000368654.3	-	13	3664	c.3289C>G	c.(3289-3291)Cag>Gag	p.Q1097E	MKI67_ENST00000484853.1_5'Flank|MKI67_ENST00000368653.3_Missense_Mutation_p.Q737E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1097	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.Q1097E(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTAGTGACTGGGCCTCTTCC	0.502																																							uc001lke.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(3289-3291)CAG>GAG		antigen identified by monoclonal antibody Ki-67							176.0	171.0	172.0					10																	129906815		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906815G>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3289C>G	10.37:g.129906815G>C	ENSP00000357643:p.Gln1097Glu					MKI67_uc001lkf.2_Missense_Mutation_p.Q737E|MKI67_uc009yav.1_Missense_Mutation_p.Q672E|MKI67_uc009yaw.1_Missense_Mutation_p.Q247E	p.Q1097E	NM_002417	NP_002408	P46013	KI67_HUMAN			13	3484	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1097			16 X 122 AA approximate repeats.|1.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3289C>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	7.326	0.617948	0.14129	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03065	4.06;4.06	4.08	0.489	0.16854	.	.	.	.	.	T	0.04998	0.0134	M	0.61703	1.905	0.09310	N	1	B;P;P	0.42456	0.006;0.571;0.78	B;B;B	0.42386	0.008;0.291;0.386	T	0.31336	-0.9947	9	0.09084	T	0.74	.	8.6038	0.33760	0.0:0.4553:0.2911:0.2535	.	1096;737;1097	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	E	1097;737;1096	ENSP00000357643:Q1097E;ENSP00000357642:Q737E	ENSP00000357642:Q737E	Q	-	1	0	MKI67	129796805	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	1.119000	0.31258	0.081000	0.16988	0.561000	0.74099	CAG		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		6	244	0	0	0	8.12818e-05	0	6	244				
RIC8A	60626	broad.mit.edu	37	11	209514	209514	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:209514G>C	ENST00000526104.1	+	3	1584	c.240G>C	c.(238-240)ctG>ctC	p.L80L	BET1L_ENST00000410108.1_5'Flank|RIC8A_ENST00000527696.1_Silent_p.L74L|BET1L_ENST00000486280.1_5'Flank|RIC8A_ENST00000325207.5_Silent_p.L80L|BET1L_ENST00000529614.2_5'Flank|BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000332865.6_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	80					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L80L(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCAACTGCCTGGACCCGTTCA	0.632																																							uc001log.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(238-240)CTG>CTC		resistance to inhibitors of cholinesterase 8							62.0	60.0	61.0					11																	209514		2203	4300	6503	SO:0001819	synonymous_variant	60626					cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	g.chr11:209514G>C	AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.240G>C	11.37:g.209514G>C						BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001lof.2_Silent_p.L80L|RIC8A_uc001loh.2_Silent_p.L73L	p.L80L	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	3	565	+		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	80					Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Silent	SNP	ENST00000526104.1	37	c.240G>C																																																																																					0.632	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932		4	53	0	0	0	1.23904e-05	0	4	53				
MUC6	4588	broad.mit.edu	37	11	1017488	1017488	+	Silent	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:1017488G>T	ENST00000421673.2	-	31	5363	c.5313C>A	c.(5311-5313)ccC>ccA	p.P1771P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1771	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTGTGGTTGGGGGTGATGC	0.572																																							uc001lsw.2		NA																	0				ovary(1)	1						c.(5311-5313)CCC>CCA		mucin 6, gastric							566.0	563.0	564.0					11																	1017488		2199	4293	6492	SO:0001819	synonymous_variant	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017488G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5313C>A	11.37:g.1017488G>T							p.P1771P	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5364	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1771			Thr-rich.|Approximate repeats.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	c.5313C>A	CCDS44513.1																																																																																				0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		15	638	1	0	9.7654e-05	9.7654e-05	0.00205148	15	638				
CTSD	1509	broad.mit.edu	37	11	1778748	1778748	+	Silent	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:1778748G>A	ENST00000236671.2	-	5	642	c.510C>T	c.(508-510)ggC>ggT	p.G170G	AC068580.6_ENST00000449248.1_RNA|RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.A41V	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	170					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)	p.G170G(1)		endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTTTGACACCGCCCAGGGCAG	0.642											OREG0003774	type=REGULATORY REGION|Gene=CTSD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc001luc.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(508-510)GGC>GGT		cathepsin D preproprotein	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						96.0	67.0	77.0					11																	1778748		2202	4299	6501	SO:0001819	synonymous_variant	1509				cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity	g.chr11:1778748G>A	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.510C>T	11.37:g.1778748G>A			OREG0003774	type=REGULATORY REGION|Gene=CTSD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	598	CTSD_uc009yda.1_RNA	p.G170G	NM_001909	NP_001900	P07339	CATD_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	5	643	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	170					Q6IB57	Silent	SNP	ENST00000236671.2	37	c.510C>T	CCDS7725.1	.	.	.	.	.	.	.	.	.	.	g	5.420	0.262694	0.10294	.	.	ENSG00000250644	ENST00000427721	.	.	.	4.02	-6.51	0.01878	.	.	.	.	.	T	0.24586	0.0596	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.30357	-0.9981	4	.	.	.	.	6.1397	0.20253	0.5223:0.0:0.1463:0.3314	.	.	.	.	V	41	.	.	A	-	2	0	RP11-295K3.1	1735324	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.697000	0.00390	-1.218000	0.02601	-0.368000	0.07277	GCG		0.642	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104272.5	NM_001909		7	10	0	0	0	8.12818e-05	0	7	10				
OR51E2	81285	broad.mit.edu	37	11	4702997	4702997	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:4702997C>A	ENST00000396950.3	-	2	1184	c.945G>T	c.(943-945)caG>caT	p.Q315H		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	315					cellular response to fatty acid (GO:0071398)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|positive regulation of blood pressure (GO:0045777)|positive regulation of renin secretion into blood stream (GO:1900135)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|signaling receptor activity (GO:0038023)|steroid hormone receptor activity (GO:0003707)	p.Q315H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTCCCACAGCCTGCAAGTCCT	0.438																																							uc001lzk.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(943-945)CAG>CAT		olfactory receptor, family 51, subfamily E,							138.0	120.0	126.0					11																	4702997		2201	4298	6499	SO:0001583	missense	81285				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4702997C>A	AY033942	CCDS7751.1	11p15	2012-08-09			ENSG00000167332	ENSG00000167332		"""GPCR / Class A : Olfactory receptors"""	15195	protein-coding gene	gene with protein product		611268				11118034	Standard	NM_030774		Approved	PSGR	uc001lzk.2	Q9H255	OTTHUMG00000133362	ENST00000396950.3:c.945G>T	11.37:g.4702997C>A	ENSP00000380153:p.Gln315His						p.Q315H	NM_030774	NP_110401	Q9H255	O51E2_HUMAN		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)	2	1189	-		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	315			Cytoplasmic (Potential).		B2RA63|Q6IF94	Missense_Mutation	SNP	ENST00000396950.3	37	c.945G>T	CCDS7751.1	.	.	.	.	.	.	.	.	.	.	C	9.277	1.047218	0.19827	.	.	ENSG00000167332	ENST00000396950	T	0.01887	4.58	5.16	2.89	0.33648	.	0.342118	0.21236	N	0.077883	T	0.01287	0.0042	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.49735	-0.8908	10	0.13853	T	0.58	.	8.2093	0.31473	0.0:0.7523:0.0:0.2477	.	315	Q9H255	O51E2_HUMAN	H	315	ENSP00000380153:Q315H	ENSP00000380153:Q315H	Q	-	3	2	OR51E2	4659573	0.013000	0.17824	0.002000	0.10522	0.844000	0.47949	0.652000	0.24888	0.500000	0.27991	0.655000	0.94253	CAG		0.438	OR51E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257198.1	NM_030774		27	39	1	0	5.45727e-16	0.000227799	1.3128e-14	27	39				
OR52E6	390078	broad.mit.edu	37	11	5862711	5862711	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:5862711G>C	ENST00000329322.5	-	1	416	c.417C>G	c.(415-417)acC>acG	p.T139T	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Silent_p.T143T	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T143T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATTTTGCTGGTGAGGATCA	0.488																																							uc010qzq.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(415-417)ACC>ACG		olfactory receptor, family 52, subfamily E,							205.0	185.0	192.0					11																	5862711		2201	4296	6497	SO:0001819	synonymous_variant	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862711G>C	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.417C>G	11.37:g.5862711G>C						TRIM5_uc001mbq.1_Intron	p.T139T	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	417	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	139			Cytoplasmic (Potential).		Q6IFF8	Silent	SNP	ENST00000329322.5	37	c.417C>G	CCDS53597.1																																																																																				0.488	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		5	231	0	0	0	1.23904e-05	0	5	231				
OR5P3	120066	broad.mit.edu	37	11	7847399	7847399	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:7847399C>A	ENST00000328375.1	-	1	120	c.121G>T	c.(121-123)Ggt>Tgt	p.G41C	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G41C(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTGATATTACCCATTAAGGTG	0.368																																							uc010rbg.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(121-123)GGT>TGT		olfactory receptor, family 5, subfamily P,							69.0	73.0	72.0					11																	7847399		2184	4296	6480	SO:0001583	missense	120066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7847399C>A	AF158377	CCDS7783.1	11p15.4	2012-08-09			ENSG00000182334	ENSG00000182334		"""GPCR / Class A : Olfactory receptors"""	14784	protein-coding gene	gene with protein product							Standard	NM_153445		Approved	JCG1	uc010rbg.2	Q8WZ94	OTTHUMG00000165669	ENST00000328375.1:c.121G>T	11.37:g.7847399C>A	ENSP00000332068:p.Gly41Cys						p.G41C	NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN		Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	121	-			41			Helical; Name=1; (Potential).		Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	c.121G>T	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.137007	0.56936	.	.	ENSG00000182334	ENST00000328375	T	0.04454	3.62	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.363657	0.19969	U	0.102027	T	0.34164	0.0888	H	0.96080	3.765	0.09310	N	0.999993	D	0.89917	1.0	D	0.76575	0.988	T	0.45101	-0.9284	10	0.87932	D	0	-9.9593	16.5172	0.84304	0.0:1.0:0.0:0.0	.	41	Q8WZ94	OR5P3_HUMAN	C	41	ENSP00000332068:G41C	ENSP00000332068:G41C	G	-	1	0	OR5P3	7803975	0.010000	0.17322	0.173000	0.22940	0.002000	0.02628	2.470000	0.45119	2.760000	0.94817	0.644000	0.83932	GGT		0.368	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445		29	63	1	0	1.13719e-10	0.000227799	2.61668e-09	29	63				
KCNC1	3746	broad.mit.edu	37	11	17793440	17793440	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:17793440T>G	ENST00000379472.3	+	2	829	c.799T>G	c.(799-801)Tgc>Ggc	p.C267G	KCNC1_ENST00000265969.6_Missense_Mutation_p.C267G	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	267					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)	p.C267G(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	TGTCATCTTCTGCCCCAACAA	0.572																																							uc001mnk.3		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(799-801)TGC>GGC		Shaw-related voltage-gated potassium channel							284.0	244.0	258.0					11																	17793440		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793440T>G	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.799T>G	11.37:g.17793440T>G	ENSP00000368785:p.Cys267Gly					KCNC1_uc009yhc.1_Missense_Mutation_p.C267G	p.C267G	NM_004976	NP_004967	P48547	KCNC1_HUMAN			2	854	+			267			Helical; Name=Segment S2; (Potential).		K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.799T>G	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940739	0.52972	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97161	-4.27;-4.27	4.77	4.77	0.60923	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98526	0.9508	M	0.88906	2.99	0.80722	D	1	P;D	0.89917	0.898;1.0	P;D	0.91635	0.813;0.999	D	0.99609	1.0980	10	0.72032	D	0.01	.	14.3104	0.66413	0.0:0.0:0.0:1.0	.	267;267	Q3KNS8;P48547	.;KCNC1_HUMAN	G	267	ENSP00000265969:C267G;ENSP00000368785:C267G	ENSP00000265969:C267G	C	+	1	0	KCNC1	17750016	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.040000	0.89188	1.788000	0.52465	0.454000	0.30748	TGC		0.572	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		62	103	0	0	0	0.000147903	0	62	103				
TPH1	7166	broad.mit.edu	37	11	18050857	18050858	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:18050857_18050858CC>AA	ENST00000250018.2	-	5	1083_1084	c.521_522GG>TT	c.(520-522)tGG>tTT	p.W174F	TPH1_ENST00000341556.2_Missense_Mutation_p.W174F	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	174					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)	p.W174F(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ATACGGTTCCCCAGGTCTTAAT	0.396																																							uc001mnp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(520-522)TGG>TTT		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)																																			SO:0001583	missense	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.chr11:18050857_18050858CC>AA	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.521_522delinsAA	11.37:g.18050857_18050858delinsAA	ENSP00000250018:p.Trp174Phe					TPH1_uc009yhe.2_Intron	p.W174F	NM_004179	NP_004170	P17752	TPH1_HUMAN			5	547_548	-			174					D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	DNP	ENST00000250018.2	37	c.521_522GG>TT	CCDS7829.1																																																																																				0.396	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179		14	426	0	0	0	6.4e-05	0	14	426				
DCDC1	341019	broad.mit.edu	37	11	31086079	31086079	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:31086079C>G	ENST00000597505.1	-	18	2527	c.2528G>C	c.(2527-2529)gGg>gCg	p.G843A	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)			p.G462A(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGTCAGCTCCCCCGTCTCCTC	0.488																																							uc009yjk.1		NA																	1	Substitution - Missense(1)		lung(1)		NA						c.(871-873)GGG>GCG		RecName: Full=Doublecortin domain-containing protein 5;							161.0	155.0	157.0					11																	31086079		1891	4117	6008	SO:0001583	missense	0							g.chr11:31086079C>G	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2528G>C	11.37:g.31086079C>G	ENSP00000472625:p.Gly843Ala					uc009yjl.1_Missense_Mutation_p.G219A|DCDC1_uc001msu.1_Missense_Mutation_p.G462A	p.G291A							8	941	-								A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.872G>C																																																																																					0.488	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		5	204	0	0	0	1.23904e-05	0	5	204				
SLC1A2	6506	broad.mit.edu	37	11	35313850	35313850	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:35313850G>C	ENST00000278379.3	-	7	1357	c.1075C>G	c.(1075-1077)Ctg>Gtg	p.L359V	SLC1A2_ENST00000395750.1_Missense_Mutation_p.L350V|SLC1A2_ENST00000395753.1_Missense_Mutation_p.L350V|SLC1A2_ENST00000606205.1_Missense_Mutation_p.L359V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	359					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.L359V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			GCGGTGCCCAGGGCAGTGATC	0.468																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	uc001mwd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1075-1077)CTG>GTG		excitatory amino acid transporter 2	L-Glutamic Acid(DB00142)						176.0	186.0	183.0					11																	35313850		2202	4298	6500	SO:0001583	missense	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35313850G>C	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1075C>G	11.37:g.35313850G>C	ENSP00000278379:p.Leu359Val					SLC1A2_uc001mwe.2_Missense_Mutation_p.L350V|SLC1A2_uc010rev.1_Missense_Mutation_p.L359V	p.L359V	NM_004171	NP_004162	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		7	1667	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	359					B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.1075C>G	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337820	0.60963	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753	T;T;T	0.60920	0.15;0.15;0.15	5.63	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.69975	0.3171	M	0.76002	2.32	0.58432	D	0.999999	D;D	0.65815	0.995;0.995	P;D	0.68039	0.838;0.955	T	0.72144	-0.4379	10	0.66056	D	0.02	-9.37	6.7675	0.23575	0.1418:0.0:0.7117:0.1465	.	359;359	B4DQE9;P43004	.;EAA2_HUMAN	V	359;350;350	ENSP00000278379:L359V;ENSP00000379099:L350V;ENSP00000379102:L350V	ENSP00000278379:L359V	L	-	1	2	SLC1A2	35270426	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.990000	0.49401	2.644000	0.89710	0.655000	0.94253	CTG		0.468	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		6	307	0	0	0	8.12818e-05	0	6	307				
RAG1	5896	broad.mit.edu	37	11	36597288	36597288	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:36597288C>G	ENST00000299440.5	+	2	2546	c.2434C>G	c.(2434-2436)Cag>Gag	p.Q812E		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	812					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q812E(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CAAGATCTTCCAGCTAGAGAT	0.473									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(2434-2436)CAG>GAG		recombination activating gene 1							72.0	72.0	72.0					11																	36597288		2202	4298	6500	SO:0001583	missense	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597288C>G	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2434C>G	11.37:g.36597288C>G	ENSP00000299440:p.Gln812Glu					RAG1_uc001mwt.2_RNA	p.Q812E	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	2558	+	all_lung(20;0.226)	all_hematologic(20;0.107)	812					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2434C>G	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904564	0.72868	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.86865	-2.18;-2.18	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	D	0.95847	0.8648	H	0.95679	3.705	0.80722	D	1	P	0.51537	0.946	D	0.66602	0.945	D	0.95944	0.8949	10	0.87932	D	0	.	20.8401	0.99726	0.0:1.0:0.0:0.0	.	812	P15918	RAG1_HUMAN	E	812	ENSP00000434610:Q812E;ENSP00000299440:Q812E	ENSP00000299440:Q812E	Q	+	1	0	RAG1	36553864	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.932000	0.99384	0.644000	0.83932	CAG		0.473	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		4	97	0	0	0	1.23904e-05	0	4	97				
CHRM4	1132	broad.mit.edu	37	11	46407116	46407116	+	Missense_Mutation	SNP	C	C	G	rs199586286		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:46407116C>G	ENST00000433765.2	-	1	991	c.992G>C	c.(991-993)cGg>cCg	p.R331P		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	331					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	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.R331P(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTTGAGGGCCCGCGGCTGCAG	0.637																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	Esophageal Squamous(171;1020 1936 4566 30205 42542)	uc001nct.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(991-993)CGG>CCG		cholinergic receptor, muscarinic 4	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)						134.0	153.0	147.0					11																	46407116		2100	4211	6311	SO:0001583	missense	1132				cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	g.chr11:46407116C>G	M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.992G>C	11.37:g.46407116C>G	ENSP00000409378:p.Arg331Pro						p.R331P	NM_000741	NP_000732	P08173	ACM4_HUMAN		GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	1	992	-			331			Cytoplasmic (By similarity).		B2RPP4|Q0VD60|Q4VBK7	Missense_Mutation	SNP	ENST00000433765.2	37	c.992G>C	CCDS44581.1	.	.	.	.	.	.	.	.	.	.	c	6.456	0.452237	0.12283	.	.	ENSG00000180720	ENST00000433765	T	0.59638	0.25	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.41971	0.1182	N	0.16478	0.41	0.09310	N	1	B	0.10296	0.003	B	0.18871	0.023	T	0.18147	-1.0346	9	0.27082	T	0.32	.	12.7832	0.57489	0.0:0.8352:0.1648:0.0	.	331	P08173	ACM4_HUMAN	P	331	ENSP00000409378:R331P	ENSP00000409378:R331P	R	-	2	0	CHRM4	46363692	0.263000	0.24083	0.844000	0.33320	0.361000	0.29550	2.077000	0.41557	2.225000	0.72522	0.457000	0.33378	CGG		0.637	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334985.1	NM_000741		6	317	0	0	0	0.000274275	0	6	317				
ATG13	9776	broad.mit.edu	37	11	46686437	46686437	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:46686437G>C	ENST00000434074.1	+	11	1517	c.828G>C	c.(826-828)ctG>ctC	p.L276L	ATG13_ENST00000526508.1_Silent_p.L276L|ATG13_ENST00000530500.1_Intron|ATG13_ENST00000528494.1_Silent_p.L309L|ATG13_ENST00000524625.1_Intron|ATG13_ENST00000529655.1_Intron|ATG13_ENST00000359513.4_Silent_p.L276L|ATG13_ENST00000312040.4_Silent_p.L276L|ATG13_ENST00000451945.1_Intron	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	276					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)	p.L309L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CTGCTGCCCTGGGCGTTGGAT	0.483																																							uc009yld.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(826-828)CTG>CTC		autophagy-related protein 13 isoform 1							179.0	159.0	165.0					11																	46686437		1566	3581	5147	SO:0001819	synonymous_variant	9776				autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr11:46686437G>C	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.828G>C	11.37:g.46686437G>C						KIAA0652_uc001nda.2_Silent_p.L309L|KIAA0652_uc001ndb.2_Silent_p.L276L|KIAA0652_uc001ncz.2_Intron|KIAA0652_uc001ndc.2_Intron|KIAA0652_uc010rgv.1_Intron	p.L276L	NM_001142673	NP_001136145	O75143	ATG13_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	12	1512	+			276					B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Silent	SNP	ENST00000434074.1	37	c.828G>C	CCDS44582.1																																																																																				0.483	ATG13-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390300.2	NM_014741		6	241	0	0	0	0.000157383	0	6	241				
CKAP5	9793	broad.mit.edu	37	11	46775022	46775022	+	Missense_Mutation	SNP	C	C	G	rs376318569		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:46775022C>G	ENST00000529230.1	-	37	4941	c.4895G>C	c.(4894-4896)cGg>cCg	p.R1632P	MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1572P|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1632P|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1572P			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1632					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGAGGCCTCCCGGGCAAGGCT	0.458																																					Ovarian(4;85 273 2202 4844 13323)	Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1		NA																	0				ovary(1)|skin(1)	2						c.(4894-4896)CGG>CCG		colonic and hepatic tumor over-expressed protein							104.0	101.0	102.0					11																	46775022		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46775022C>G		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4895G>C	11.37:g.46775022C>G	ENSP00000432768:p.Arg1632Pro					CKAP5_uc009ylg.1_Missense_Mutation_p.R1518P|CKAP5_uc001ndj.1_Missense_Mutation_p.R1572P|CKAP5_uc001ndh.1_Missense_Mutation_p.R561P	p.R1632P	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			37	5005	-			1632					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.4895G>C	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425983	0.83667	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.49720	0.86;0.86;0.77;0.77	5.72	5.72	0.89469	Armadillo-like helical (1);Armadillo-type fold (1);	0.052046	0.64402	D	0.000001	T	0.58680	0.2139	M	0.63843	1.955	0.20821	N	0.999846	P;D;D	0.63046	0.881;0.992;0.986	B;P;P	0.58210	0.395;0.835;0.689	T	0.53975	-0.8362	10	0.27785	T	0.31	-2.7544	13.126	0.59356	0.0:0.9271:0.0:0.0729	.	1632;1572;1632	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	P	1632;1632;1572;1572	ENSP00000432768:R1632P;ENSP00000395302:R1632P;ENSP00000310227:R1572P;ENSP00000346566:R1572P	ENSP00000310227:R1572P	R	-	2	0	CKAP5	46731598	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.989000	0.56958	2.699000	0.92147	0.655000	0.94253	CGG		0.458	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		5	122	0	0	0	1.23904e-05	0	5	122				
OR5D16	390144	broad.mit.edu	37	11	55606864	55606864	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:55606864C>A	ENST00000378396.1	+	1	637	c.637C>A	c.(637-639)Cta>Ata	p.L213I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L213I(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GATAAGCACACTACTCATCAT	0.458																																							uc010rio.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(637-639)CTA>ATA		olfactory receptor, family 5, subfamily D,							215.0	178.0	190.0					11																	55606864		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606864C>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.637C>A	11.37:g.55606864C>A	ENSP00000367649:p.Leu213Ile						p.L213I	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	637	+		all_epithelial(135;0.208)	213			Helical; Name=5; (Potential).		Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.637C>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	16.00	2.997837	0.54147	.	.	ENSG00000205029	ENST00000378396	T	0.46451	0.87	4.29	-3.17	0.05202	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.43590	0.1254	L	0.58510	1.815	0.09310	N	1	B	0.28512	0.214	P	0.48982	0.597	T	0.56329	-0.7997	9	0.15499	T	0.54	-16.971	1.2561	0.01992	0.1381:0.1808:0.2984:0.3827	.	213	Q8NGK9	OR5DG_HUMAN	I	213	ENSP00000367649:L213I	ENSP00000367649:L213I	L	+	1	2	OR5D16	55363440	0.000000	0.05858	0.000000	0.03702	0.875000	0.50365	-3.954000	0.00326	-0.183000	0.10585	0.530000	0.56133	CTA		0.458	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		42	58	1	0	5.2432e-18	0.000147903	1.27919e-16	42	58				
OR5I1	10798	broad.mit.edu	37	11	55703186	55703186	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:55703186G>C	ENST00000301532.3	-	1	690	c.691C>G	c.(691-693)Cgc>Ggc	p.R231G		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	231					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.R231G(1)|p.R231C(1)|p.R231S(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						CTGAAAGAGCGGATCTTTAAG	0.453																																							uc010ris.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(691-693)CGC>GGC		olfactory receptor, family 5, subfamily I,							51.0	52.0	52.0					11																	55703186		2201	4296	6497	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703186G>C	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.691C>G	11.37:g.55703186G>C	ENSP00000301532:p.Arg231Gly						p.R231G	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	691	-			231			Cytoplasmic (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.691C>G	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	G	4.401	0.074008	0.08485	.	.	ENSG00000167825	ENST00000301532	T	0.39056	1.1	5.16	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.141093	0.33180	N	0.005192	T	0.42854	0.1221	M	0.68317	2.08	0.09310	N	1	P	0.41597	0.756	B	0.41174	0.349	T	0.38714	-0.9648	10	0.48119	T	0.1	.	11.1547	0.48480	0.0:0.0:0.6659:0.3341	.	231	Q13606	OR5I1_HUMAN	G	231	ENSP00000301532:R231G	ENSP00000301532:R231G	R	-	1	0	OR5I1	55459762	0.000000	0.05858	0.175000	0.22980	0.088000	0.18126	0.636000	0.24644	1.275000	0.44379	0.643000	0.83706	CGC		0.453	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		3	19	0	0	0	6.4e-05	0	3	19				
OR5F1	338674	broad.mit.edu	37	11	55761692	55761692	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:55761692G>A	ENST00000278409.1	-	1	409	c.410C>T	c.(409-411)tCc>tTc	p.S137F		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	137					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.S137F(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GACGGTCCTGGACATGATCAA	0.512																																							uc010riv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(409-411)TCC>TTC		olfactory receptor, family 5, subfamily F,							48.0	49.0	49.0					11																	55761692		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761692G>A	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.410C>T	11.37:g.55761692G>A	ENSP00000278409:p.Ser137Phe						p.S137F	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	410	-	Esophageal squamous(21;0.00448)		137			Cytoplasmic (Potential).		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.410C>T	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	8.572	0.880342	0.17467	.	.	ENSG00000149133	ENST00000278409	T	0.02032	4.49	3.03	0.661	0.17874	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.11239	0.0274	M	0.90595	3.13	0.09310	N	1	D	0.63046	0.992	D	0.63381	0.914	T	0.05566	-1.0877	9	0.87932	D	0	.	6.0757	0.19913	0.0:0.1521:0.4228:0.425	.	137	O95221	OR5F1_HUMAN	F	137	ENSP00000278409:S137F	ENSP00000278409:S137F	S	-	2	0	OR5F1	55518268	0.000000	0.05858	0.044000	0.18714	0.110000	0.19582	-1.165000	0.03132	0.350000	0.24002	0.297000	0.19635	TCC		0.512	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		33	34	0	0	0	0.000339439	0	33	34				
OR8H2	390151	broad.mit.edu	37	11	55872561	55872561	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:55872561C>A	ENST00000313503.1	+	1	43	c.43C>A	c.(43-45)Ctt>Att	p.L15I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L15I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGACTTCATCCTTATGGGACT	0.433										HNSCC(53;0.14)																													uc010riy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(43-45)CTT>ATT		olfactory receptor, family 8, subfamily H,							227.0	216.0	220.0					11																	55872561		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872561C>A	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.43C>A	11.37:g.55872561C>A	ENSP00000323982:p.Leu15Ile	HNSCC(53;0.14)					p.L15I	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	43	+	Esophageal squamous(21;0.00693)		15			Extracellular (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.43C>A	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	c	13.57	2.276528	0.40294	.	.	ENSG00000181767	ENST00000313503	T	0.00561	6.59	3.74	1.82	0.25136	.	0.155564	0.30658	N	0.009152	T	0.01800	0.0057	M	0.85777	2.775	0.26495	N	0.974873	D	0.67145	0.996	P	0.62184	0.899	T	0.16719	-1.0393	10	0.72032	D	0.01	.	9.7765	0.40623	0.0:0.8216:0.0:0.1784	.	15	Q8N162	OR8H2_HUMAN	I	15	ENSP00000323982:L15I	ENSP00000323982:L15I	L	+	1	0	OR8H2	55629137	0.190000	0.23276	0.790000	0.31976	0.034000	0.12701	0.443000	0.21644	0.343000	0.23821	0.440000	0.28878	CTT		0.433	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		76	117	1	0	9.37156e-40	0.000147903	2.47036e-38	76	117				
OR5J2	282775	broad.mit.edu	37	11	55944491	55944491	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:55944491C>A	ENST00000312298.1	+	1	398	c.398C>A	c.(397-399)aCt>aAt	p.T133N		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T133N(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)					TTGCTTTACACTGTAGCCATG	0.458																																							uc010rjb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(397-399)ACT>AAT		olfactory receptor, family 5, subfamily J,							160.0	146.0	151.0					11																	55944491		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944491C>A	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.398C>A	11.37:g.55944491C>A	ENSP00000310788:p.Thr133Asn						p.T133N	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	398	+	Esophageal squamous(21;0.00693)		133			Cytoplasmic (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.398C>A	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336642	0.24253	.	.	ENSG00000174957	ENST00000312298	T	0.01613	4.73	4.67	1.04	0.20106	GPCR, rhodopsin-like superfamily (1);	0.520845	0.17280	N	0.180048	T	0.01940	0.0061	L	0.39514	1.22	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.41822	-0.9487	10	0.39692	T	0.17	.	9.4502	0.38721	0.0:0.5079:0.3834:0.1087	.	133	Q8NH18	OR5J2_HUMAN	N	133	ENSP00000310788:T133N	ENSP00000310788:T133N	T	+	2	0	OR5J2	55701067	0.000000	0.05858	0.002000	0.10522	0.022000	0.10575	-2.725000	0.00808	0.490000	0.27771	0.584000	0.79450	ACT		0.458	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		42	63	1	0	6.57855e-14	0.000437636	1.54472e-12	42	63				
DTX4	23220	broad.mit.edu	37	11	58949675	58949675	+	Silent	SNP	A	A	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:58949675A>C	ENST00000227451.3	+	2	779	c.675A>C	c.(673-675)ggA>ggC	p.G225G	DTX4_ENST00000532982.1_Silent_p.G119G	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	225					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G119G(1)|p.G225G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CGCCTCCTGGAGTGGTCAAGC	0.627																																							uc001nns.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(2)|central_nervous_system(1)	3						c.(673-675)GGA>GGC		deltex 4 homolog							23.0	30.0	28.0					11																	58949675		2054	4188	6242	SO:0001819	synonymous_variant	23220				Notch signaling pathway	cytoplasm	zinc ion binding	g.chr11:58949675A>C	AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.675A>C	11.37:g.58949675A>C						DTX4_uc001nnr.2_Silent_p.G119G	p.G225G	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN			2	932	+		all_epithelial(135;0.125)	225					Q0VF38	Silent	SNP	ENST00000227451.3	37	c.675A>C	CCDS44612.1																																																																																				0.627	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394228.1	XM_166213		13	24	0	0	0	0.00010058	0	13	24				
NUDT22	84304	broad.mit.edu	37	11	63994191	63994191	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:63994191G>C	ENST00000279206.3	+	2	223	c.67G>C	c.(67-69)Gcc>Ccc	p.A23P	TRPT1_ENST00000317459.6_5'Flank|RP11-783K16.14_ENST00000534988.1_RNA|TRPT1_ENST00000546133.1_5'Flank|NUDT22_ENST00000441250.2_Missense_Mutation_p.A23P|TRPT1_ENST00000394546.2_5'Flank|TRPT1_ENST00000540472.1_5'Flank|TRPT1_ENST00000394547.3_5'Flank|TRPT1_ENST00000541278.1_5'Flank|TRPT1_ENST00000546089.1_5'Flank	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	23							hydrolase activity (GO:0016787)	p.A23P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						GCAGATACAGGCCGAGCTGAG	0.672																																							uc001nyp.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(67-69)GCC>CCC		nudix (nucleoside diphosphate linked moiety							36.0	39.0	38.0					11																	63994191		2201	4297	6498	SO:0001583	missense	84304						hydrolase activity	g.chr11:63994191G>C	BC006129	CCDS8061.1, CCDS44640.1	11q13.1	2008-02-05			ENSG00000149761	ENSG00000149761		"""Nudix motif containing"""	28189	protein-coding gene	gene with protein product						12477932	Standard	NM_032344		Approved	MGC13045	uc009ype.4	Q9BRQ3	OTTHUMG00000167791	ENST00000279206.3:c.67G>C	11.37:g.63994191G>C	ENSP00000279206:p.Ala23Pro					TRPT1_uc010rnc.1_5'Flank|TRPT1_uc010rnd.1_5'Flank|TRPT1_uc001nyn.2_5'Flank|TRPT1_uc001nyo.2_5'Flank|TRPT1_uc010rne.1_5'Flank|TRPT1_uc010rnf.1_5'Flank|NUDT22_uc009ypd.2_Missense_Mutation_p.A23P|NUDT22_uc009ype.2_Missense_Mutation_p.A23P|NUDT22_uc001nyq.3_Missense_Mutation_p.A23P|NUDT22_uc010rng.1_5'Flank	p.A23P	NM_032344	NP_115720	Q9BRQ3	NUD22_HUMAN			2	247	+			23					C9JY06|Q71RD5	Missense_Mutation	SNP	ENST00000279206.3	37	c.67G>C	CCDS8061.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.512990	0.64522	.	.	ENSG00000149761	ENST00000539325;ENST00000279206;ENST00000441250;ENST00000428347;ENST00000536237	T;T;T;T	0.47177	0.85;2.16;2.17;1.42	4.55	4.55	0.56014	.	0.490245	0.21768	N	0.069414	T	0.59865	0.2225	L	0.50333	1.59	0.24229	N	0.995403	D;P;D	0.63880	0.993;0.955;0.964	P;P;P	0.59487	0.858;0.564;0.663	T	0.54899	-0.8224	10	0.66056	D	0.02	-9.5393	16.592	0.84769	0.0:0.0:1.0:0.0	.	23;23;23	Q9BRQ3-2;C9JY06;Q9BRQ3	.;.;NUD22_HUMAN	P	23	ENSP00000444022:A23P;ENSP00000279206:A23P;ENSP00000407970:A23P;ENSP00000401085:A23P	ENSP00000279206:A23P	A	+	1	0	NUDT22	63750767	0.722000	0.28017	0.038000	0.18304	0.021000	0.10359	4.547000	0.60712	2.535000	0.85469	0.491000	0.48974	GCC		0.672	NUDT22-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396304.2	NM_032344		3	40	0	0	0	6.4e-05	0	3	40				
KCNK7	10089	broad.mit.edu	37	11	65360547	65360547	+	Missense_Mutation	SNP	C	C	G	rs369191636		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:65360547C>G	ENST00000340313.4	-	3	1076	c.853G>C	c.(853-855)Ggg>Cgg	p.G285R	AP001362.1_ENST00000597463.1_5'Flank|KCNK7_ENST00000394216.2_3'UTR|KCNK7_ENST00000394217.2_3'UTR|KCNK7_ENST00000342202.4_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	285					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.G285R(1)		endometrium(1)|liver(1)|lung(1)	3						TCATCCTGCCCTAGGATGCCA	0.627																																							uc001oes.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(853-855)GGG>CGG		potassium channel, subfamily K, member 7 isoform							54.0	49.0	50.0					11																	65360547		2201	4297	6498	SO:0001583	missense	10089					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:65360547C>G	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.853G>C	11.37:g.65360547C>G	ENSP00000344820:p.Gly285Arg					KCNK7_uc001oeq.2_3'UTR|KCNK7_uc001oer.2_3'UTR|KCNK7_uc001oeu.2_3'UTR	p.G285R	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN			3	1077	-			285			Cytoplasmic (Potential).		Q3SYI2|Q9Y2U3|Q9Y2U4	Missense_Mutation	SNP	ENST00000340313.4	37	c.853G>C	CCDS31608.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.780|8.780	0.928055|0.928055	0.18131|0.18131	.|.	.|.	ENSG00000173338|ENSG00000173338	ENST00000340313|ENST00000530380	T|.	0.09445|.	2.98|.	4.7|4.7	0.355|0.355	0.16069|0.16069	.|.	0.425946|.	0.20090|.	N|.	0.099464|.	T|T	0.11707|0.11707	0.0285|0.0285	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.20671|.	0.047|.	B|.	0.21917|.	0.037|.	T|T	0.27020|0.27020	-1.0086|-1.0086	10|5	0.52906|.	T|.	0.07|.	.|.	2.0765|2.0765	0.03625|0.03625	0.1592:0.4939:0.1554:0.1915|0.1592:0.4939:0.1554:0.1915	.|.	285|.	Q9Y2U2|.	KCNK7_HUMAN|.	R|T	285|49	ENSP00000344820:G285R|.	ENSP00000344820:G285R|.	G|R	-|-	1|2	0|0	KCNK7|KCNK7	65117123|65117123	0.000000|0.000000	0.05858|0.05858	0.034000|0.034000	0.17996|0.17996	0.136000|0.136000	0.21042|0.21042	0.253000|0.253000	0.18296|0.18296	0.420000|0.420000	0.25954|0.25954	-0.264000|-0.264000	0.10439|0.10439	GGG|AGG		0.627	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		3	16	0	0	0	1.23904e-05	0	3	16				
PCNXL3	399909	broad.mit.edu	37	11	65380732	65380732	+	5'Flank	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:65380732G>C	ENST00000355703.3	+	0	0				MAP3K11_ENST00000530153.1_5'Flank|MAP3K11_ENST00000309100.3_Missense_Mutation_p.R166G	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)		p.R166G(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCGAAGAGCCGGGCCTCCTGG	0.647																																							uc001oew.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(496-498)CGG>GGG		mitogen-activated protein kinase kinase kinase							50.0	49.0	49.0					11																	65380732		2201	4297	6498	SO:0001631	upstream_gene_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65380732G>C	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65380732G>C	Exception_encountered					MAP3K11_uc010rol.1_5'Flank	p.R166G	NM_002419	NP_002410	Q16584	M3K11_HUMAN			1	989	-			166			Protein kinase.		Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.496C>G	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669643	0.67814	.	.	ENSG00000173327	ENST00000309100	D	0.82984	-1.67	3.79	3.79	0.43588	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	T	0.82204	0.4986	L	0.28740	0.885	0.80722	D	1	D	0.56521	0.976	P	0.60789	0.879	T	0.83066	-0.0145	10	0.87932	D	0	.	8.6032	0.33758	0.0:0.0:0.7711:0.2289	.	166	Q16584	M3K11_HUMAN	G	166	ENSP00000309597:R166G	ENSP00000309597:R166G	R	-	1	2	MAP3K11	65137308	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.571000	0.45990	1.956000	0.56807	0.563000	0.77884	CGG		0.647	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		3	59	0	0	0	6.4e-05	0	3	59				
CARNS1	57571	broad.mit.edu	37	11	67191717	67191717	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:67191717A>T	ENST00000307823.3	+	9	2581	c.2129A>T	c.(2128-2130)gAc>gTc	p.D710V	CARNS1_ENST00000531040.1_Missense_Mutation_p.D807V|CARNS1_ENST00000445895.2_Missense_Mutation_p.D833V|CARNS1_ENST00000423745.2_Missense_Mutation_p.D710V	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	710	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)	p.D833V(1)|p.D268V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						TATGGTGTTGACCTGCTGCTG	0.632																																							uc009yrp.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2128-2130)GAC>GTC		ATP-grasp domain containing 1							30.0	33.0	32.0					11																	67191717		2176	4254	6430	SO:0001583	missense	57571				carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding	g.chr11:67191717A>T		CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"""ATP-grasp domain containing 1"""	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.2129A>T	11.37:g.67191717A>T	ENSP00000308268:p.Asp710Val					CARNS1_uc001olc.3_Missense_Mutation_p.D849V	p.D710V	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN			9	2581	+			710			ATP-grasp.		A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	ENST00000307823.3	37	c.2129A>T	CCDS44658.1	.	.	.	.	.	.	.	.	.	.	a	18.94	3.728836	0.69074	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895	D;D;D;D	0.98296	-4.85;-4.85;-4.85;-4.85	5.54	5.54	0.83059	ATP-grasp fold (1);	0.084454	0.47455	D	0.000233	D	0.98937	0.9639	M	0.85859	2.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99795	1.1033	10	0.87932	D	0	-34.4736	14.6415	0.68729	1.0:0.0:0.0:0.0	.	710;849	A5YM72;A5YM72-3	CRNS1_HUMAN;.	V	807;710;807;710;833	ENSP00000431670:D807V;ENSP00000308268:D710V;ENSP00000401519:D710V;ENSP00000389009:D833V	ENSP00000308268:D710V	D	+	2	0	CARNS1	66948293	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.755000	0.55197	2.111000	0.64477	0.444000	0.29173	GAC		0.632	CARNS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395501.1	NM_020811		18	21	0	0	0	0.000229342	0	18	21				
NUMA1	4926	broad.mit.edu	37	11	71733410	71733410	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:71733410C>G	ENST00000393695.3	-	7	678	c.347G>C	c.(346-348)tGg>tCg	p.W116S	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Missense_Mutation_p.W116S|NUMA1_ENST00000351960.6_Missense_Mutation_p.W116S	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.W116S(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AAACTGTTCCCAGTCCCTGGG	0.493			T	RARA	APL																																		uc001orl.1		NA		Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(346-348)TGG>TCG		nuclear mitotic apparatus protein 1							170.0	175.0	173.0					11																	71733410		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71733410C>G	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.347G>C	11.37:g.71733410C>G	ENSP00000377298:p.Trp116Ser					NUMA1_uc001ork.1_Missense_Mutation_p.W116S|NUMA1_uc001orm.1_Missense_Mutation_p.W116S|NUMA1_uc009ysx.1_Missense_Mutation_p.W116S|NUMA1_uc001oro.1_Missense_Mutation_p.W116S|NUMA1_uc009ysy.1_Missense_Mutation_p.W116S|NUMA1_uc001orp.2_Missense_Mutation_p.W116S|NUMA1_uc001orq.2_Missense_Mutation_p.W116S	p.W116S	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			7	519	-			116						Missense_Mutation	SNP	ENST00000393695.3	37	c.347G>C	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.478343	0.44044	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217;ENST00000544238;ENST00000543937;ENST00000543009;ENST00000537930;ENST00000544129;ENST00000535947	T;T;T;T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.03	5.03	0.67393	.	0.096095	0.47852	D	0.000210	T	0.53738	0.1815	L	0.36672	1.1	0.51767	D	0.999931	D;P;P;P;D;P	0.89917	1.0;0.865;0.865;0.713;1.0;0.713	D;B;B;B;D;B	0.91635	0.999;0.421;0.421;0.33;0.997;0.225	T	0.51116	-0.8746	10	0.51188	T	0.08	.	14.1753	0.65537	0.0:0.8501:0.1499:0.0	.	116;116;116;116;116;116	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	S	116	ENSP00000260051:W116S;ENSP00000351851:W116S;ENSP00000377298:W116S;ENSP00000444880:W116S;ENSP00000442936:W116S;ENSP00000442761:W116S;ENSP00000439759:W116S;ENSP00000438821:W116S;ENSP00000438589:W116S;ENSP00000439092:W116S;ENSP00000444175:W116S	ENSP00000260051:W116S	W	-	2	0	NUMA1	71411058	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.203000	0.51075	2.768000	0.95171	0.655000	0.94253	TGG		0.493	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			6	210	0	0	0	0.000274275	0	6	210				
ATG16L2	89849	broad.mit.edu	37	11	72540382	72540382	+	Missense_Mutation	SNP	G	G	C	rs142770133		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:72540382G>C	ENST00000321297.5	+	18	1945	c.1807G>C	c.(1807-1809)Ggg>Cgg	p.G603R	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	603					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G603R(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTGCTACTCCGGGAGCCACAT	0.672																																							uc001otd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1807-1809)GGG>CGG		ATG16 autophagy related 16-like 2							45.0	41.0	42.0					11																	72540382		2200	4293	6493	SO:0001583	missense	89849				autophagy|protein transport	cytoplasm	protein binding	g.chr11:72540382G>C	AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.1807G>C	11.37:g.72540382G>C	ENSP00000326340:p.Gly603Arg					ATG16L2_uc001ote.2_Missense_Mutation_p.G497R|ATG16L2_uc009ytj.1_Intron|ATG16L2_uc001otf.2_Missense_Mutation_p.G358R|ATG16L2_uc001otg.2_Missense_Mutation_p.G337R|ATG16L2_uc009ytk.2_Missense_Mutation_p.G324R	p.G603R	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.73e-06)		18	1847	+			603			WD 7.		A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	ENST00000321297.5	37	c.1807G>C	CCDS31634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.922037|4.922037	0.92319|0.92319	.|.	.|.	ENSG00000168010|ENSG00000168010	ENST00000321297;ENST00000538973;ENST00000541367|ENST00000540222	D;D;D|.	0.84516|.	-1.86;-1.86;-1.86|.	6.04|6.04	6.04|6.04	0.98038|0.98038	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.198539|.	0.41938|.	D|.	0.000786|.	D|D	0.83783|0.83783	0.5329|0.5329	M|M	0.87971|0.87971	2.92|2.92	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.998|.	D|D	0.84920|0.84920	0.0853|0.0853	10|5	0.72032|.	D|.	0.01|.	.|.	18.073|18.073	0.89417|0.89417	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	497;603|.	Q8NAA4-2;Q8NAA4|.	.;A16L2_HUMAN|.	R|P	603;400;434|380	ENSP00000326340:G603R;ENSP00000441989:G400R;ENSP00000437412:G434R|.	ENSP00000326340:G603R|.	G|R	+|+	1|2	0|0	ATG16L2|ATG16L2	72218030|72218030	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.924000|0.924000	0.55760|0.55760	7.360000|7.360000	0.79487|0.79487	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.672	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388		3	36	0	0	0	6.4e-05	0	3	36				
UVRAG	7405	broad.mit.edu	37	11	75727941	75727941	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:75727941C>G	ENST00000356136.3	+	12	1384	c.1143C>G	c.(1141-1143)ccC>ccG	p.P381P	UVRAG_ENST00000528420.1_Silent_p.P280P|UVRAG_ENST00000531818.1_Silent_p.P9P|UVRAG_ENST00000539288.1_Silent_p.P9P|UVRAG_ENST00000532130.1_Silent_p.P9P|UVRAG_ENST00000533454.1_Silent_p.P9P	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	381					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)		p.P381P(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						TACAAGTGCCCCTCAGATATC	0.383																																							uc001oxc.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(4)|lung(2)	6						c.(1141-1143)CCC>CCG		UV radiation resistance associated							137.0	128.0	131.0					11																	75727941		2200	4293	6493	SO:0001819	synonymous_variant	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75727941C>G	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1143C>G	11.37:g.75727941C>G						UVRAG_uc010rrw.1_Silent_p.P280P|UVRAG_uc001oxd.2_Silent_p.P9P|UVRAG_uc010rrx.1_Silent_p.P9P|UVRAG_uc009yuh.1_RNA	p.P381P	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN			12	1384	+			381					B3KTC1|O00392	Silent	SNP	ENST00000356136.3	37	c.1143C>G	CCDS8241.1																																																																																				0.383	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369		4	140	0	0	0	0.00024832	0	4	140				
ALG8	79053	broad.mit.edu	37	11	77832145	77832145	+	Silent	SNP	T	T	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:77832145T>C	ENST00000299626.5	-	4	515	c.444A>G	c.(442-444)ttA>ttG	p.L148L	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000376156.3_Silent_p.L148L	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	148					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)	p.L148L(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TCCACAGAAGTAATACCGACA	0.323																																							uc001oza.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(442-444)TTA>TTG		dolichyl pyrophosphate Glc1Man9GlcNAc2							178.0	171.0	174.0					11																	77832145		2200	4292	6492	SO:0001819	synonymous_variant	79053				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr11:77832145T>C	AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.444A>G	11.37:g.77832145T>C						ALG8_uc001oyz.1_Silent_p.L148L|ALG8_uc009yux.1_Silent_p.L46L|ALG8_uc009yuy.1_RNA	p.L148L	NM_024079	NP_076984	Q9BVK2	ALG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)		4	509	-	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		148			Helical; (Potential).		A6NDW6|O60860	Silent	SNP	ENST00000299626.5	37	c.444A>G	CCDS8258.1	.	.	.	.	.	.	.	.	.	.	T	9.642	1.139194	0.21205	.	.	ENSG00000159063	ENST00000532306	.	.	.	5.8	0.82	0.18793	.	.	.	.	.	T	0.51381	0.1671	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36720	-0.9736	4	.	.	.	-10.7337	5.3177	0.15864	0.0:0.3788:0.3116:0.3096	.	.	.	.	C	22	.	.	Y	-	2	0	ALG8	77509793	0.716000	0.27956	0.843000	0.33291	0.951000	0.60555	-0.269000	0.08596	0.103000	0.17682	-0.263000	0.10527	TAC		0.323	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1	NM_024079		44	83	0	0	0	0.000147903	0	44	83				
ANKRD42	338699	broad.mit.edu	37	11	82922342	82922342	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:82922342C>G	ENST00000393392.2	+	5	534	c.372C>G	c.(370-372)ccC>ccG	p.P124P	ANKRD42_ENST00000533342.1_Silent_p.P152P|ANKRD42_ENST00000526731.1_Silent_p.P152P|ANKRD42_ENST00000528722.1_Silent_p.P39P|ANKRD42_ENST00000393389.3_Silent_p.P152P|ANKRD42_ENST00000531895.1_Silent_p.P152P|ANKRD42_ENST00000260047.6_Silent_p.P151P|RP11-727A23.7_ENST00000531869.1_RNA	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	124					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)		p.P124P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TCTAGGATCCCAGTGTGACTG	0.433																																							uc001ozz.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(370-372)CCC>CCG		ankyrin repeat domain 42							181.0	170.0	174.0					11																	82922342		2203	4300	6503	SO:0001819	synonymous_variant	338699							g.chr11:82922342C>G	AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.372C>G	11.37:g.82922342C>G						ANKRD42_uc009yvi.1_Silent_p.P152P|ANKRD42_uc010rsv.1_Silent_p.P152P|ANKRD42_uc001paa.2_Silent_p.P152P|ANKRD42_uc001pab.1_Silent_p.P151P	p.P124P	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN			5	794	+			124			ANK 3.		Q49A49	Silent	SNP	ENST00000393392.2	37	c.372C>G	CCDS8265.1																																																																																				0.433	ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603		6	162	0	0	0	0.000157383	0	6	162				
NOX4	50507	broad.mit.edu	37	11	89070632	89070632	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:89070632G>C	ENST00000263317.4	-	16	1736	c.1498C>G	c.(1498-1500)Caa>Gaa	p.Q500E	NOX4_ENST00000531342.1_Missense_Mutation_p.Q153E|NOX4_ENST00000375979.3_Missense_Mutation_p.Q193E|NOX4_ENST00000535633.1_Missense_Mutation_p.Q476E|NOX4_ENST00000527956.1_Missense_Mutation_p.Q476E|NOX4_ENST00000525196.1_Missense_Mutation_p.Q264E|NOX4_ENST00000534731.1_Missense_Mutation_p.Q460E|NOX4_ENST00000424319.1_Missense_Mutation_p.Q476E|NOX4_ENST00000413594.2_Missense_Mutation_p.Q521E|NOX4_ENST00000527626.1_Missense_Mutation_p.Q313E|NOX4_ENST00000343727.5_Missense_Mutation_p.Q476E|NOX4_ENST00000532825.1_Missense_Mutation_p.Q436E|NOX4_ENST00000542487.1_Missense_Mutation_p.Q476E|NOX4_ENST00000528341.1_Missense_Mutation_p.Q475E			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	500	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.Q500E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CCATCTGTTTGACTGAGGTAC	0.393																																							uc001pct.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1498-1500)CAA>GAA		NADPH oxidase 4 isoform a							66.0	59.0	62.0					11																	89070632		2201	4295	6496	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89070632G>C	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1498C>G	11.37:g.89070632G>C	ENSP00000263317:p.Gln500Glu					NOX4_uc009yvr.2_Missense_Mutation_p.Q475E|NOX4_uc001pcu.2_Missense_Mutation_p.Q426E|NOX4_uc001pcw.2_Missense_Mutation_p.Q193E|NOX4_uc001pcx.2_Missense_Mutation_p.Q153E|NOX4_uc001pcv.2_Missense_Mutation_p.Q460E|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.Q313E|NOX4_uc009yvp.2_Missense_Mutation_p.Q264E|NOX4_uc010rtv.1_Missense_Mutation_p.Q436E|NOX4_uc009yvq.2_Missense_Mutation_p.Q476E	p.Q500E	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			16	1737	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	500			Cytoplasmic (Potential).|Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.1498C>G	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.513438	0.44660	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	D;D;D;T;T;D;T;D;D;D;D;D;T;D	0.94417	-3.42;-3.42;-3.42;0.04;0.04;-3.42;0.04;-3.42;-3.42;-3.42;-3.42;-3.42;0.04;-3.42	5.18	5.18	0.71444	Ferric reductase, NAD binding (1);	0.125771	0.53938	D	0.000054	D	0.96134	0.8740	M	0.68728	2.09	0.54753	D	0.999981	B;P;B;D;P;P;B;B	0.53619	0.361;0.51;0.44;0.961;0.75;0.481;0.288;0.036	B;B;B;P;P;B;B;B	0.57846	0.309;0.297;0.257;0.828;0.554;0.217;0.193;0.102	D	0.95633	0.8691	9	.	.	.	-0.3079	18.3133	0.90208	0.0:0.0:1.0:0.0	.	436;313;475;264;153;193;460;500	E9PMY6;E9PR43;E9PPP2;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;.;NOX4_HUMAN	E	476;476;476;460;264;500;436;476;476;313;475;521;153;193	ENSP00000412446:Q476E;ENSP00000440172:Q476E;ENSP00000344747:Q476E;ENSP00000436892:Q460E;ENSP00000436716:Q264E;ENSP00000263317:Q500E;ENSP00000434924:Q436E;ENSP00000433797:Q476E;ENSP00000439373:Q476E;ENSP00000436093:Q313E;ENSP00000436970:Q475E;ENSP00000405705:Q521E;ENSP00000435039:Q153E;ENSP00000365146:Q193E	.	Q	-	1	0	NOX4	88710280	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.594000	0.67557	2.403000	0.81681	0.557000	0.71058	CAA		0.393	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		21	37	0	0	0	0.000184323	0	21	37				
CCDC67	159989	broad.mit.edu	37	11	93118683	93118683	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:93118683C>A	ENST00000298050.3	+	8	1009	c.909C>A	c.(907-909)tgC>tgA	p.C303*	CCDC67_ENST00000525646.1_Nonsense_Mutation_p.C45*	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	303					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)		p.C295*(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TAGGAGAGTGCCAAAATGCTC	0.303																																							uc001pdq.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(907-909)TGC>TGA		coiled-coil domain containing 67							59.0	58.0	58.0					11																	93118683		1807	4068	5875	SO:0001587	stop_gained	159989							g.chr11:93118683C>A	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.909C>A	11.37:g.93118683C>A	ENSP00000298050:p.Cys303*					CCDC67_uc001pdo.1_Nonsense_Mutation_p.C303*|CCDC67_uc001pdp.2_Nonsense_Mutation_p.C303*	p.C303*	NM_181645	NP_857596	Q05D60	CCD67_HUMAN			8	1009	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	303					Q8NEF1|Q96LL7	Nonsense_Mutation	SNP	ENST00000298050.3	37	c.909C>A	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	C	37	6.388607	0.97529	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819;ENST00000525646	.	.	.	5.94	4.04	0.47022	.	1.460460	0.03740	N	0.254894	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	6.0607	0.19837	0.0:0.5239:0.3103:0.1658	.	.	.	.	X	303;303;303;45	.	ENSP00000298050:C303X	C	+	3	2	CCDC67	92758331	0.021000	0.18746	0.670000	0.29842	0.939000	0.58152	0.137000	0.15995	0.811000	0.34303	0.557000	0.71058	TGC		0.303	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181645		21	59	1	0	7.92952e-12	7.16444e-05	1.8462e-10	21	59				
AMOTL1	154810	broad.mit.edu	37	11	94599210	94599210	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:94599210C>T	ENST00000433060.2	+	11	2506	c.2365C>T	c.(2365-2367)Cgt>Tgt	p.R789C	AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.R739C	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	789					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.R790C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CTCCAGCCTACGTCCTGCCCG	0.517																																							uc001pfb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(2365-2367)CGT>TGT		angiomotin like 1							52.0	56.0	55.0					11																	94599210		2012	4183	6195	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94599210C>T	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2365C>T	11.37:g.94599210C>T	ENSP00000387739:p.Arg789Cys					AMOTL1_uc001pfc.2_Missense_Mutation_p.R739C	p.R789C	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			11	2535	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	789					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.2365C>T	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834611	0.71373	.	.	ENSG00000166025	ENST00000317829;ENST00000433060	T;T	0.25414	1.82;1.8	5.23	3.32	0.38043	Angiomotin, C-terminal (1);	0.000000	0.64402	D	0.000004	T	0.50531	0.1621	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.54964	-0.8214	10	0.87932	D	0	-30.3426	14.4123	0.67121	0.2682:0.7317:0.0:0.0	.	739;789	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	C	739;789	ENSP00000320968:R739C;ENSP00000387739:R789C	ENSP00000320968:R739C	R	+	1	0	AMOTL1	94238858	0.920000	0.31207	1.000000	0.80357	0.864000	0.49448	0.310000	0.19356	0.572000	0.29383	0.561000	0.74099	CGT		0.517	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		19	29	0	0	0	9.7654e-05	0	19	29				
MMP20	9313	broad.mit.edu	37	11	102477386	102477386	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:102477386C>T	ENST00000260228.2	-	6	845	c.833G>A	c.(832-834)gGg>gAg	p.G278E	RP11-817J15.2_ENST00000542119.1_RNA|RP11-817J15.2_ENST00000544115.1_RNA|MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	297					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G278E(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	AGTGGGCTTCCCCAGGAATAC	0.537																																							uc001phc.2		NA																	1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|skin(1)	2						c.(832-834)GGG>GAG		matrix metalloproteinase 20 preproprotein							104.0	103.0	103.0					11																	102477386		2203	4299	6502	SO:0001583	missense	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102477386C>T	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.833G>A	11.37:g.102477386C>T	ENSP00000260228:p.Gly278Glu						p.G278E	NM_004771	NP_004762	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	6	846	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	278					D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	c.833G>A	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.111557	0.00353	.	.	ENSG00000137674	ENST00000260228	T	0.12984	2.63	5.45	4.47	0.54385	.	0.438616	0.23849	N	0.043976	T	0.11580	0.0282	L	0.55990	1.75	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.42172	-0.9467	10	0.02654	T	1	.	10.9912	0.47551	0.0:0.904:0.0:0.096	.	278	O60882	MMP20_HUMAN	E	278	ENSP00000260228:G278E	ENSP00000260228:G278E	G	-	2	0	MMP20	101982596	0.606000	0.26949	0.237000	0.24090	0.038000	0.13279	1.432000	0.34936	2.835000	0.97688	0.650000	0.86243	GGG		0.537	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			36	63	0	0	0	0.000319135	0	36	63				
DYNC2H1	79659	broad.mit.edu	37	11	103027385	103027385	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:103027385A>T	ENST00000375735.2	+	26	4157	c.4013A>T	c.(4012-4014)tAc>tTc	p.Y1338F	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.Y1338F	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1338	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTAGATGAATACCTGCAGAAT	0.368																																							uc001pho.2		NA																	0					0						c.(4012-4014)TAC>TTC		dynein, cytoplasmic 2, heavy chain 1							56.0	55.0	55.0					11																	103027385		1801	4076	5877	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103027385A>T	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.4013A>T	11.37:g.103027385A>T	ENSP00000364887:p.Tyr1338Phe					DYNC2H1_uc001phn.1_Missense_Mutation_p.Y1338F|DYNC2H1_uc009yxe.1_Intron	p.Y1338F	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	26	4157	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1338			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.4013A>T	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	10.75	1.439241	0.25900	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.60797	0.16;0.16	5.02	5.02	0.67125	Dynein heavy chain, domain-2 (1);	0.632493	0.13796	N	0.362190	T	0.53012	0.1770	L	0.49256	1.55	0.35644	D	0.811217	B;B	0.23058	0.045;0.079	B;B	0.26416	0.049;0.069	T	0.58929	-0.7549	10	0.42905	T	0.14	.	11.1766	0.48603	0.8626:0.0:0.0:0.1374	.	1338;1338	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	F	1338	ENSP00000364887:Y1338F;ENSP00000381167:Y1338F	ENSP00000364887:Y1338F	Y	+	2	0	DYNC2H1	102532595	1.000000	0.71417	0.957000	0.39632	0.880000	0.50808	4.159000	0.58157	1.889000	0.54706	0.379000	0.24179	TAC		0.368	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		17	32	0	0	0	0.000422831	0	17	32				
ATM	472	broad.mit.edu	37	11	108204678	108204679	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:108204678_108204679CC>AA	ENST00000452508.2	+	55	8182_8183	c.7993_7994CC>AA	c.(7993-7995)CCt>AAt	p.P2665N	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.P2665N			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2665					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.P2665T(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGTTGTTGTCCCTACTATGGAA	0.262			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(7993-7995)CCT>AAT	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1																																				SO:0001583	missense	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108204678_108204679CC>AA	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	Exception_encountered	11.37:g.108204678_108204679delinsAA	ENSP00000388058:p.Pro2665Asn	TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.P2665N|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.P1317N|ATM_uc001pkg.1_Missense_Mutation_p.P1022N	p.P2665N	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	54	8378_8379	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2665					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	DNP	ENST00000452508.2	37	c.7993_7994CC>AA	CCDS31669.1																																																																																				0.262	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		9	323	0	0	0	6.4e-05	0	9	323				
C11orf1	64776	broad.mit.edu	37	11	111754522	111754522	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:111754522C>G	ENST00000260276.3	+	4	708	c.371C>G	c.(370-372)cCa>cGa	p.P124R	C11orf1_ENST00000528125.1_Missense_Mutation_p.P78R|C11orf1_ENST00000529270.1_Missense_Mutation_p.P164R|C11orf1_ENST00000530214.1_Missense_Mutation_p.Q102E	NM_022761.2	NP_073598.1	Q9H5F2	CK001_HUMAN	chromosome 11 open reading frame 1	124						nucleus (GO:0005634)		p.P124R(1)		kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		CACTGGTTCCCAGGACATCAA	0.408																																							uc001pmd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(370-372)CCA>CGA		hypothetical protein LOC64776							109.0	108.0	108.0					11																	111754522		2201	4297	6498	SO:0001583	missense	64776					nucleus		g.chr11:111754522C>G	AJ250229	CCDS8350.1	11q23.1	2012-05-30			ENSG00000137720	ENSG00000137720			1163	protein-coding gene	gene with protein product						10873569	Standard	NM_022761		Approved	FLJ23499	uc001pmd.3	Q9H5F2	OTTHUMG00000166884	ENST00000260276.3:c.371C>G	11.37:g.111754522C>G	ENSP00000260276:p.Pro124Arg					C11orf1_uc001pme.2_Missense_Mutation_p.P164R	p.P124R	NM_022761	NP_073598	Q9H5F2	CK001_HUMAN		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)	4	708	+		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)	124					Q6I9X7|Q9NQC6	Missense_Mutation	SNP	ENST00000260276.3	37	c.371C>G	CCDS8350.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.488445|4.488445	0.84854|0.84854	.|.	.|.	ENSG00000137720|ENSG00000137720	ENST00000528125;ENST00000260276;ENST00000530799;ENST00000529270|ENST00000530214	T;T;T;T|T	0.34472|0.21361	1.36;1.36;1.36;1.36|2.01	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.46425|0.46425	0.1392|0.1392	M|M	0.79475|0.79475	2.455|2.455	0.40458|0.40458	D|D	0.980216|0.980216	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.46470|0.46470	-0.9189|-0.9189	10|7	0.87932|0.66056	D|D	0|0.02	-14.3563|-14.3563	17.4738|17.4738	0.87655|0.87655	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	164;124|.	E9PMC1;Q9H5F2|.	.;CK001_HUMAN|.	R|E	78;124;140;164|102	ENSP00000433224:P78R;ENSP00000260276:P124R;ENSP00000432128:P140R;ENSP00000431180:P164R|ENSP00000435864:Q102E	ENSP00000260276:P124R|ENSP00000435864:Q102E	P|Q	+|+	2|1	0|0	C11orf1|C11orf1	111259732|111259732	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.420000|3.420000	0.52735|0.52735	2.790000|2.790000	0.95986|0.95986	0.650000|0.650000	0.86243|0.86243	CCA|CAG		0.408	C11orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391650.1	NM_022761		5	167	0	0	0	3.59834e-05	0	5	167				
CLDN25	644672	broad.mit.edu	37	11	113651086	113651086	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:113651086G>T	ENST00000453129.2	+	1	618	c.569G>T	c.(568-570)gGa>gTa	p.G190V		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.G190V(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						GCCTGCCTGGGAAAAGAAGAT	0.557																																							uc009yyw.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(568-570)GGA>GTA		claudin 25							81.0	82.0	82.0					11																	113651086		1990	4174	6164	SO:0001583	missense	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113651086G>T		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.569G>T	11.37:g.113651086G>T	ENSP00000396304:p.Gly190Val						p.G190V	NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN			1	569	+			190			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000453129.2	37	c.569G>T	CCDS44736.1	.	.	.	.	.	.	.	.	.	.	G	9.431	1.085628	0.20390	.	.	ENSG00000228607	ENST00000453129	T	0.63580	-0.05	4.88	-0.117	0.13551	.	.	.	.	.	T	0.32645	0.0836	N	0.08118	0	0.48040	D	0.999574	P	0.46706	0.883	B	0.38458	0.274	T	0.05852	-1.0860	9	0.30854	T	0.27	.	5.9124	0.19035	0.3332:0.2054:0.4614:0.0	.	190	C9JDP6	CLD25_HUMAN	V	190	ENSP00000396304:G190V	ENSP00000396304:G190V	G	+	2	0	CLDN25	113156296	0.996000	0.38824	0.846000	0.33378	0.054000	0.15201	0.939000	0.28978	0.100000	0.17581	-0.796000	0.03273	GGA		0.557	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389		30	44	1	0	5.52252e-06	0.000339439	0.000120619	30	44				
USP28	57646	broad.mit.edu	37	11	113711322	113711322	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:113711322G>A	ENST00000003302.4	-	5	600	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Nonsense_Mutation_p.Q178*|USP28_ENST00000537706.1_Nonsense_Mutation_p.Q178*|USP28_ENST00000545540.1_Nonsense_Mutation_p.Q53*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	178	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.Q178*(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TATCATACCTGAATAACAGCA	0.353																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(532-534)CAG>TAG		ubiquitin specific protease 28							108.0	98.0	102.0					11																	113711322		2201	4296	6497	SO:0001587	stop_gained	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113711322G>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.532C>T	11.37:g.113711322G>A	ENSP00000003302:p.Gln178*					USP28_uc010rwy.1_Nonsense_Mutation_p.Q53*|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Nonsense_Mutation_p.Q178*|USP28_uc010rwz.1_Nonsense_Mutation_p.Q178*	p.Q178*	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	5	565	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	178					B0YJC0|B0YJC1|Q9P213	Nonsense_Mutation	SNP	ENST00000003302.4	37	c.532C>T	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	35	5.582212	0.96578	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000545540;ENST00000537706;ENST00000537642	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.6283	15.1436	0.72630	0.0:0.0:1.0:0.0	.	.	.	.	X	178;178;53;178;106	.	ENSP00000003302:Q178X	Q	-	1	0	USP28	113216532	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.067000	0.93955	2.536000	0.85505	0.591000	0.81541	CAG		0.353	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			30	57	0	0	0	0.000491102	0	30	57				
BACE1	23621	broad.mit.edu	37	11	117163813	117163813	+	Missense_Mutation	SNP	C	C	G	rs368294217		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:117163813C>G	ENST00000313005.6	-	5	1257	c.797G>C	c.(796-798)cGg>cCg	p.R266P	BACE1_ENST00000510630.1_Missense_Mutation_p.R141P|BACE1_ENST00000428381.2_Missense_Mutation_p.R197P|BACE1_ENST00000513780.1_Missense_Mutation_p.R241P|BACE1_ENST00000445823.2_Missense_Mutation_p.R222P|BACE1_ENST00000392937.6_Missense_Mutation_p.R166P|BACE1_ENST00000528053.1_Missense_Mutation_p.R266P|BACE1_ENST00000514464.1_5'Flank	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	266					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)	p.R266P(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GATCTCCACCCGCACAATGAT	0.502																																							uc001pqz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(796-798)CGG>CCG		beta-site APP-cleaving enzyme 1 isoform A							284.0	271.0	275.0					11																	117163813		2201	4296	6497	SO:0001583	missense	23621				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	g.chr11:117163813C>G	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.797G>C	11.37:g.117163813C>G	ENSP00000318585:p.Arg266Pro					BACE1_uc001pqw.2_Missense_Mutation_p.R241P|BACE1_uc001pqx.2_Missense_Mutation_p.R197P|BACE1_uc001pqy.2_Missense_Mutation_p.R222P|BACE1_uc010rxg.1_Missense_Mutation_p.R141P|BACE1_uc010rxh.1_Missense_Mutation_p.R166P|BACE1_uc009yzo.1_5'Flank	p.R266P	NM_012104	NP_036236	P56817	BACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)	5	1258	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	266			Extracellular (Potential).		A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	ENST00000313005.6	37	c.797G>C	CCDS8383.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250905	0.80135	.	.	ENSG00000186318	ENST00000313005;ENST00000392937;ENST00000528053;ENST00000510630;ENST00000428381;ENST00000513780;ENST00000445823;ENST00000292095	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94;0.94	6.07	5.16	0.70880	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.188254	0.43919	D	0.000507	T	0.43344	0.1243	L	0.52573	1.65	0.45930	D	0.998766	B;P;P;B;P;P	0.52316	0.342;0.519;0.879;0.39;0.952;0.835	B;B;P;B;B;B	0.49637	0.027;0.29;0.617;0.113;0.333;0.416	T	0.37709	-0.9694	10	0.46703	T	0.11	.	7.7233	0.28744	0.0:0.7578:0.0:0.2422	.	166;141;266;222;197;241	F8W807;E9PE65;P56817;P56817-3;P56817-4;P56817-2	.;.;BACE1_HUMAN;.;.;.	P	266;166;266;141;197;241;222;32	ENSP00000318585:R266P;ENSP00000431848:R266P;ENSP00000422461:R141P;ENSP00000402228:R197P;ENSP00000424536:R241P;ENSP00000403685:R222P	ENSP00000292095:R32P	R	-	2	0	BACE1	116669023	0.657000	0.27393	0.989000	0.46669	0.956000	0.61745	1.663000	0.37429	1.581000	0.49865	0.655000	0.94253	CGG		0.502	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			8	316	0	0	0	0.000274275	0	8	316				
MPZL3	196264	broad.mit.edu	37	11	118106197	118106197	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:118106197C>G	ENST00000278949.4	-	4	614	c.559G>C	c.(559-561)Ggg>Cgg	p.G187R	MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Missense_Mutation_p.G175R			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	187					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)		p.G187R(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTCTTCAGCCCAGCAGCCTTC	0.552																																							uc001psm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(559-561)GGG>CGG		myelin protein zero-like 3 precursor							177.0	171.0	173.0					11																	118106197		2200	4296	6496	SO:0001583	missense	196264				cell adhesion	integral to membrane		g.chr11:118106197C>G	AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"""Immunoglobulin superfamily / V-set domain containing"""	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.559G>C	11.37:g.118106197C>G	ENSP00000278949:p.Gly187Arg					MPZL3_uc010rxy.1_Missense_Mutation_p.G175R|MPZL3_uc010rxz.1_RNA|MPZL3_uc009yzy.2_Intron	p.G187R	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	4	561	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	187					A8K025|B4DLD5|B4E2I8	Missense_Mutation	SNP	ENST00000278949.4	37	c.559G>C	CCDS8392.1	.	.	.	.	.	.	.	.	.	.	C	6.288	0.421281	0.11928	.	.	ENSG00000160588	ENST00000278949;ENST00000527472	D;D	0.95171	-3.44;-3.63	5.87	4.97	0.65823	.	0.268438	0.38217	N	0.001772	D	0.88012	0.6323	L	0.27053	0.805	0.37401	D	0.912841	B;B	0.33549	0.251;0.417	B;B	0.31442	0.097;0.13	D	0.86276	0.1664	10	0.11794	T	0.64	.	11.5661	0.50807	0.0:0.8079:0.1251:0.067	.	175;187	B4E2I8;Q6UWV2	.;MPZL3_HUMAN	R	187;175	ENSP00000278949:G187R;ENSP00000432106:G175R	ENSP00000278949:G187R	G	-	1	0	MPZL3	117611407	0.319000	0.24607	0.908000	0.35775	0.955000	0.61496	0.941000	0.29005	1.636000	0.50526	-0.136000	0.14681	GGG		0.552	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275		5	232	0	0	0	3.59834e-05	0	5	232				
TRIM29	23650	broad.mit.edu	37	11	120008375	120008375	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:120008375G>T	ENST00000341846.5	-	1	786	c.365C>A	c.(364-366)gCc>gAc	p.A122D		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	122					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A122D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GCCCTTTTCGGCAAAGGTAAC	0.617																																							uc001pwz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(364-366)GCC>GAC		tripartite motif protein TRIM29							126.0	139.0	135.0					11																	120008375		2203	4300	6503	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008375G>T	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.365C>A	11.37:g.120008375G>T	ENSP00000343129:p.Ala122Asp					TRIM29_uc001pxa.2_RNA	p.A122D	NM_012101	NP_036233	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	489	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	122					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.365C>A	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575578	0.65878	.	.	ENSG00000137699	ENST00000341846	T	0.45276	0.9	5.06	5.06	0.68205	.	0.169978	0.41097	D	0.000941	T	0.37812	0.1017	L	0.29908	0.895	0.80722	D	1	P	0.50272	0.933	P	0.44860	0.462	T	0.10776	-1.0615	9	.	.	.	.	18.4348	0.90642	0.0:0.0:1.0:0.0	.	122	Q14134	TRI29_HUMAN	D	122	ENSP00000343129:A122D	.	A	-	2	0	TRIM29	119513585	0.828000	0.29307	0.909000	0.35828	0.440000	0.31957	4.496000	0.60360	2.358000	0.79984	0.467000	0.42956	GCC		0.617	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		64	139	1	0	2.66076e-39	0.000147903	6.98703e-38	64	139				
VSIG2	23584	broad.mit.edu	37	11	124618384	124618384	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:124618384C>A	ENST00000326621.5	-	6	853	c.753G>T	c.(751-753)ctG>ctT	p.L251L	VSIG2_ENST00000403470.1_Silent_p.L251L|RP11-677M14.2_ENST00000531241.1_RNA	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	251						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.L251L(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ACAGCACGCCCAGGAGCACCC	0.587																																							uc001qas.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(751-753)CTG>CTT		V-set and immunoglobulin domain containing 2							81.0	76.0	78.0					11																	124618384		2201	4299	6500	SO:0001819	synonymous_variant	23584					integral to plasma membrane|membrane fraction		g.chr11:124618384C>A	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.753G>T	11.37:g.124618384C>A						VSIG2_uc001qat.2_Silent_p.L251L	p.L251L	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)	6	829	-	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	251			Helical; (Potential).		O95791|Q9NX42	Silent	SNP	ENST00000326621.5	37	c.753G>T	CCDS8452.1																																																																																				0.587	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317785.1	NM_014312		27	41	1	0	2.47511e-08	0.000227799	5.58319e-07	27	41				
CCDC15	80071	broad.mit.edu	37	11	124857163	124857163	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:124857163G>C	ENST00000344762.5	+	8	1300	c.1041G>C	c.(1039-1041)caG>caC	p.Q347H	CCDC15_ENST00000529051.1_Missense_Mutation_p.Q347H	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	347						centrosome (GO:0005813)		p.Q347H(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TGGAAACCCAGGGTGATTTGA	0.473																																							uc001qbm.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1039-1041)CAG>CAC		coiled-coil domain containing 15							121.0	115.0	117.0					11																	124857163		1824	4080	5904	SO:0001583	missense	80071					centrosome		g.chr11:124857163G>C	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1041G>C	11.37:g.124857163G>C	ENSP00000341684:p.Gln347His						p.Q347H	NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1300	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	347					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1041G>C	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071518	0.76301	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.54866	0.63;0.55	3.53	3.53	0.40419	.	1.055280	0.07367	N	0.885118	T	0.72922	0.3521	M	0.71036	2.16	0.35906	D	0.830754	D	0.76494	0.999	D	0.85130	0.997	T	0.71457	-0.4587	10	0.87932	D	0	-5.4281	13.3991	0.60872	0.0:0.0:1.0:0.0	.	347	Q0P6D6	CCD15_HUMAN	H	347	ENSP00000435403:Q347H;ENSP00000341684:Q347H	ENSP00000341684:Q347H	Q	+	3	2	CCDC15	124362373	0.174000	0.23070	0.285000	0.24819	0.385000	0.30292	2.168000	0.42424	2.287000	0.76781	0.462000	0.41574	CAG		0.473	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		6	180	0	0	0	3.59834e-05	0	6	180				
EI24	9538	broad.mit.edu	37	11	125448101	125448101	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:125448101G>T	ENST00000278903.6	+	6	631	c.389G>T	c.(388-390)tGg>tTg	p.W130L	EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000343678.4_Missense_Mutation_p.W130L	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	130					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.W130L(2)		large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		AGTGCTCTTTGGGTGCTCCCC	0.488																																							uc001qca.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(388-390)TGG>TTG		etoposide induced 2.4 isoform 1							228.0	207.0	214.0					11																	125448101		1949	4161	6110	SO:0001583	missense	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125448101G>T	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.389G>T	11.37:g.125448101G>T	ENSP00000278903:p.Trp130Leu					EI24_uc001qcb.2_Missense_Mutation_p.W130L|EI24_uc010sbd.1_RNA|EI24_uc009zbl.2_Missense_Mutation_p.W130L|EI24_uc001qcc.2_RNA|EI24_uc010sbe.1_Missense_Mutation_p.W116L|EI24_uc010sbf.1_RNA	p.W130L	NM_004879	NP_004870	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	6	631	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	130			Helical; (Potential).		A8K7D6|B4DKL6|Q9BUQ1	Missense_Mutation	SNP	ENST00000278903.6	37	c.389G>T		.	.	.	.	.	.	.	.	.	.	G	35	5.475553	0.96291	.	.	ENSG00000149547	ENST00000278903;ENST00000343678;ENST00000524723;ENST00000527842	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.84638	0.5516	M	0.84683	2.71	0.80722	D	1	B;D;D;D	0.76494	0.163;0.999;0.997;0.999	B;D;D;D	0.87578	0.249;0.998;0.995;0.998	D	0.85452	0.1161	9	0.59425	D	0.04	.	19.7288	0.96175	0.0:0.0:1.0:0.0	.	116;130;130;130	B4DKL6;E9PM05;A6NES3;O14681	.;.;.;EI24_HUMAN	L	130;130;173;130	.	ENSP00000278903:W130L	W	+	2	0	EI24	124953311	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.373000	0.79623	2.769000	0.95229	0.655000	0.94253	TGG		0.488	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004879		8	160	1	0	1.12685e-05	0.000274275	0.000244952	8	160				
STT3A	3703	broad.mit.edu	37	11	125488319	125488319	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:125488319G>A	ENST00000529196.1	+	17	2032	c.1826G>A	c.(1825-1827)gGc>gAc	p.G609D	STT3A_ENST00000392708.4_Missense_Mutation_p.G609D|STT3A_ENST00000531491.1_Missense_Mutation_p.G517D			P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	609					cellular protein metabolic process (GO:0044267)|co-translational protein modification (GO:0043686)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.G609D(1)		NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ACAGATACAGGCAAACATATC	0.443																																							uc001qcd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1825-1827)GGC>GAC		integral membrane protein 1							129.0	120.0	123.0					11																	125488319		2201	4299	6500	SO:0001583	missense	3703				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity	g.chr11:125488319G>A	BC020965	CCDS8458.1, CCDS60998.1	11q23.3	2013-03-06	2013-03-06	2006-02-07	ENSG00000134910	ENSG00000134910	2.4.99.18		6172	protein-coding gene	gene with protein product	"""dolichyl-diphosphooligosaccharide protein glycotransferase"""	601134	"""integral membrane protein 1"", ""STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae)"", ""STT3A, cataylic subunit of the oligosaccharyltransferase complex"""	ITM1		8941377, 8634329, 10234787	Standard	NM_152713		Approved	TMC, MGC9042, STT3-A	uc001qcd.2	P46977	OTTHUMG00000165852	ENST00000529196.1:c.1826G>A	11.37:g.125488319G>A	ENSP00000436962:p.Gly609Asp					STT3A_uc001qce.2_Missense_Mutation_p.G609D|STT3A_uc010sbg.1_Missense_Mutation_p.G517D|STT3A_uc009zbn.2_Missense_Mutation_p.G331D	p.G609D	NM_152713	NP_689926	P46977	STT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)	16	1936	+	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	609			Lumenal (Potential).		B4DJ24|E9PNQ1|Q86XU9|Q8TE35|Q8WUB4	Missense_Mutation	SNP	ENST00000529196.1	37	c.1826G>A	CCDS8458.1	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368879	0.24771	.	.	ENSG00000134910	ENST00000392708;ENST00000529196;ENST00000531491	D;D;D	0.89552	-2.53;-2.53;-2.53	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.90239	0.6948	N	0.26162	0.8	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.72982	0.979;0.977	D	0.87698	0.2558	10	0.21014	T	0.42	-11.7001	18.521	0.90952	0.0:0.0:1.0:0.0	.	517;609	B4DJ24;P46977	.;STT3A_HUMAN	D	609;609;517	ENSP00000376472:G609D;ENSP00000436962:G609D;ENSP00000432820:G517D	ENSP00000376472:G609D	G	+	2	0	STT3A	124993529	1.000000	0.71417	1.000000	0.80357	0.246000	0.25737	9.777000	0.99008	2.548000	0.85928	0.655000	0.94253	GGC		0.443	STT3A-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386691.1	NM_152713		26	54	0	0	0	9.22233e-05	0	26	54				
RPUSD4	84881	broad.mit.edu	37	11	126080928	126080928	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:126080928C>G	ENST00000298317.4	-	2	265	c.212G>C	c.(211-213)cGg>cCg	p.R71P	FAM118B_ENST00000529731.1_5'Flank|FAM118B_ENST00000533050.1_5'Flank|FAM118B_ENST00000360194.4_5'Flank|RP11-50B3.4_ENST00000532866.1_RNA|RPUSD4_ENST00000533628.1_Missense_Mutation_p.R71P|RPUSD4_ENST00000534393.1_5'UTR	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	71					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		TTGCACTCTCCGCTGAACAGC	0.572																																							uc001qde.2		NA																	0				breast(1)	1						c.(211-213)CGG>CCG		RNA pseudouridylate synthase domain containing 4							130.0	128.0	129.0					11																	126080928		2201	4299	6500	SO:0001583	missense	84881				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr11:126080928C>G	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"""RNA pseudouridylate synthase domain containing"""	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.212G>C	11.37:g.126080928C>G	ENSP00000298317:p.Arg71Pro					FAM118B_uc001qdf.2_5'Flank|FAM118B_uc009zca.2_5'Flank|FAM118B_uc001qdg.2_5'Flank|RPUSD4_uc009zbz.2_Missense_Mutation_p.R71P|RPUSD4_uc009zby.2_RNA	p.R71P	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)	2	266	-	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	71					E9PML2|Q96K56	Missense_Mutation	SNP	ENST00000298317.4	37	c.212G>C	CCDS8469.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541166	0.85917	.	.	ENSG00000165526	ENST00000298317;ENST00000533628;ENST00000532674	T;T;T	0.44881	2.85;2.67;0.91	5.3	5.3	0.74995	.	0.311035	0.34777	N	0.003689	T	0.63721	0.2535	M	0.77616	2.38	0.37787	D	0.927212	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.958	T	0.64956	-0.6285	10	0.26408	T	0.33	-7.7531	16.1125	0.81273	0.0:1.0:0.0:0.0	.	71;71	E9PML2;Q96CM3	.;RUSD4_HUMAN	P	71	ENSP00000298317:R71P;ENSP00000433065:R71P;ENSP00000433709:R71P	ENSP00000298317:R71P	R	-	2	0	RPUSD4	125586138	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.796000	0.47869	2.474000	0.83562	0.561000	0.74099	CGG		0.572	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		6	141	0	0	0	3.59834e-05	0	6	141				
SPATA19	219938	broad.mit.edu	37	11	133715330	133715330	+	Silent	SNP	C	C	A	rs566143747		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr11:133715330C>A	ENST00000299140.3	-	1	66	c.12G>T	c.(10-12)acG>acT	p.T4T	SPATA19_ENST00000532889.1_Silent_p.T4T	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	4					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)		p.T4T(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CAATCCATGTCGTAATTATCA	0.463																																							uc001qgv.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(10-12)ACG>ACT		spermatogenesis associated 19 precursor							112.0	112.0	112.0					11																	133715330		2201	4297	6498	SO:0001819	synonymous_variant	219938				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		g.chr11:133715330C>A	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.12G>T	11.37:g.133715330C>A							p.T4T	NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	1	63	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	4					Q8N7A9	Silent	SNP	ENST00000299140.3	37	c.12G>T	CCDS8493.1																																																																																				0.463	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927		23	55	1	0	9.86323e-18	7.16444e-05	2.39785e-16	23	55				
IFFO1	25900	broad.mit.edu	37	12	6650692	6650692	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:6650692G>C	ENST00000396840.2	-	8	1601	c.1560C>G	c.(1558-1560)acC>acG	p.T520T	RP5-940J5.8_ENST00000499202.2_RNA|IFFO1_ENST00000336604.4_Silent_p.T523T|IFFO1_ENST00000465801.1_Silent_p.T216T|IFFO1_ENST00000436152.2_Silent_p.T217T|IFFO1_ENST00000356896.4_Silent_p.T524T			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	520						intermediate filament (GO:0005882)		p.T520T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CTCCAGACTGGGTGATGAGCC	0.637																																							uc001qpd.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1558-1560)ACC>ACG		intermediate filament family orphan isoform 2							60.0	59.0	59.0					12																	6650692		2203	4300	6503	SO:0001819	synonymous_variant	25900					intermediate filament		g.chr12:6650692G>C	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1560C>G	12.37:g.6650692G>C						IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_Silent_p.T160T|IFFO1_uc001qpb.1_Silent_p.T197T|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_Silent_p.T532T|IFFO1_uc001qpf.1_Silent_p.T523T|IFFO1_uc001qoz.1_Silent_p.T161T|IFFO1_uc001qpc.1_Silent_p.T524T|IFFO1_uc001qpg.2_Silent_p.T161T	p.T520T	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN			8	1594	-			520					Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	ENST00000396840.2	37	c.1560C>G		.	.	.	.	.	.	.	.	.	.	G	8.302	0.820128	0.16678	.	.	ENSG00000010295	ENST00000416019	.	.	.	4.78	-1.01	0.10169	.	.	.	.	.	T	0.49762	0.1576	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33727	-0.9857	4	.	.	.	-17.0591	4.9195	0.13862	0.0713:0.1247:0.3316:0.4725	.	.	.	.	R	254	.	.	P	-	2	0	IFFO1	6520953	0.918000	0.31147	0.986000	0.45419	0.876000	0.50452	-0.082000	0.11304	-0.601000	0.05783	-0.258000	0.10820	CCC		0.637	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1	NM_080730		18	27	0	0	0	9.7654e-05	0	18	27				
CHD4	1108	broad.mit.edu	37	12	6690214	6690214	+	Silent	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:6690214G>T	ENST00000357008.2	-	33	5068	c.4905C>A	c.(4903-4905)ccC>ccA	p.P1635P	RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000309577.6_Silent_p.P1663P|CHD4_ENST00000544040.1_Silent_p.P1628P|CHD4_ENST00000544484.1_Silent_p.P1660P|CHD4_ENST00000540960.1_5'Flank	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1635	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.P1635P(1)|p.P1663P(1)		central_nervous_system(2)	2						CTTTACCTTTGGGCTCTGTCT	0.488																																					Colon(32;586 792 4568 16848 45314)	Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)	2						c.(4903-4905)CCC>CCA		chromodomain helicase DNA binding protein 4							224.0	226.0	225.0					12																	6690214		2203	4300	6503	SO:0001819	synonymous_variant	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6690214G>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4905C>A	12.37:g.6690214G>T						CHD4_uc001qpn.2_Silent_p.P1628P|CHD4_uc001qpp.2_Silent_p.P1660P|uc001qpq.1_Intron	p.P1635P	NM_001273	NP_001264	Q14839	CHD4_HUMAN			33	5069	-			1635			Required for interaction with PCNT.		Q8IXZ5	Silent	SNP	ENST00000357008.2	37	c.4905C>A	CCDS8552.1																																																																																				0.488	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		15	327	1	0	0.000219431	0.000219431	0.00454042	15	327				
GPR162	27239	broad.mit.edu	37	12	6936107	6936107	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:6936107G>C	ENST00000311268.3	+	5	2292	c.1505G>C	c.(1504-1506)cGg>cCg	p.R502P	GPR162_ENST00000382315.3_Missense_Mutation_p.R198P|LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA|GPR162_ENST00000428545.2_Missense_Mutation_p.R218P	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	502						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R502P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GGCTTCTTCCGGGAGGAGATC	0.657																																							uc001qqw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1504-1506)CGG>CCG		G protein-coupled receptor 162 isoform 2							68.0	85.0	79.0					12																	6936107		2203	4300	6503	SO:0001583	missense	27239					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:6936107G>C	U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.1505G>C	12.37:g.6936107G>C	ENSP00000311528:p.Arg502Pro					LEPREL2_uc001qqz.1_5'Flank|LEPREL2_uc001qra.1_5'Flank|LEPREL2_uc001qrb.1_5'Flank|GPR162_uc001qqx.1_Missense_Mutation_p.R218P|GPR162_uc009zfd.1_Missense_Mutation_p.R198P|GPR162_uc001qqy.1_Intron	p.R502P	NM_019858	NP_062832	Q16538	GP162_HUMAN			5	2040	+			502			Cytoplasmic (Potential).		Q16664|Q59EH5|Q66K56	Missense_Mutation	SNP	ENST00000311268.3	37	c.1505G>C	CCDS8563.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183864	0.78677	.	.	ENSG00000250510	ENST00000311268;ENST00000428545;ENST00000382315	T;T;T	0.56776	2.51;0.45;0.44	5.21	5.21	0.72293	.	.	.	.	.	T	0.69860	0.3158	L	0.53249	1.67	0.41065	D	0.985401	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.931	T	0.72669	-0.4223	9	0.87932	D	0	.	19.1091	0.93310	0.0:0.0:1.0:0.0	.	218;502	Q16538-2;Q16538	.;GP162_HUMAN	P	502;218;198	ENSP00000311528:R502P;ENSP00000399670:R218P;ENSP00000371752:R198P	ENSP00000311528:R502P	R	+	2	0	GPR162	6806368	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.432000	0.80349	2.581000	0.87130	0.561000	0.74099	CGG		0.657	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399478.1	NM_019858		4	160	0	0	0	3.59834e-05	0	4	160				
ITPR2	3709	broad.mit.edu	37	12	26568412	26568412	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:26568412C>G	ENST00000381340.3	-	51	7546	c.7130G>C	c.(7129-7131)aGg>aCg	p.R2377T	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2377					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.R2377T(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGTCTCTTCCCTGTACACCAA	0.368																																							uc001rhg.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(7129-7131)AGG>ACG		inositol 1,4,5-triphosphate receptor, type 2							99.0	97.0	97.0					12																	26568412		1824	4081	5905	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26568412C>G	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7130G>C	12.37:g.26568412C>G	ENSP00000370744:p.Arg2377Thr					ITPR2_uc009zjg.1_Missense_Mutation_p.R528T	p.R2377T	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			51	7547	-	Colorectal(261;0.0847)		2377			Cytoplasmic (Potential).		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.7130G>C	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570225	0.65765	.	.	ENSG00000123104	ENST00000381340	D	0.98762	-5.12	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99042	0.9672	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99323	1.0907	10	0.38643	T	0.18	.	18.6686	0.91501	0.0:1.0:0.0:0.0	.	2377	Q14571	ITPR2_HUMAN	T	2377	ENSP00000370744:R2377T	ENSP00000370744:R2377T	R	-	2	0	ITPR2	26459679	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.638000	0.83328	2.636000	0.89361	0.591000	0.81541	AGG		0.368	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		4	125	0	0	0	1.23904e-05	0	4	125				
KLHL42	57542	broad.mit.edu	37	12	27933611	27933611	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:27933611C>T	ENST00000381271.2	+	1	659	c.348C>T	c.(346-348)tcC>tcT	p.S116S	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	116					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.S116S(1)									AGGTCACGTCCCTGCTGCAGC	0.677																																							uc001rij.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(346-348)TCC>TCT		kelch domain containing 5							49.0	49.0	49.0					12																	27933611		2201	4292	6493	SO:0001819	synonymous_variant	57542							g.chr12:27933611C>T	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.348C>T	12.37:g.27933611C>T						KLHDC5_uc009zjj.2_RNA	p.S116S	NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN			1	425	+	Lung SC(9;0.0873)		116					Q2VPK1|Q8N334	Silent	SNP	ENST00000381271.2	37	c.348C>T	CCDS31763.1																																																																																				0.677	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		19	55	0	0	0	0.000295444	0	19	55				
TMTC1	83857	broad.mit.edu	37	12	29911698	29911698	+	Missense_Mutation	SNP	C	C	T	rs372238552		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:29911698C>T	ENST00000539277.1	-	3	551	c.493G>A	c.(493-495)Gtt>Att	p.V165I	TMTC1_ENST00000256062.5_Missense_Mutation_p.V57I|TMTC1_ENST00000552618.1_Missense_Mutation_p.V165I|TMTC1_ENST00000551659.1_Missense_Mutation_p.V165I|TMTC1_ENST00000381224.2_Missense_Mutation_p.V57I	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	165						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.V57I(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GCTCTGCCAACGATCCCAGCC	0.393																																							uc001rjb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(169-171)GTT>ATT		transmembrane and tetratricopeptide repeat		C	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	95.0	73.0	80.0		493,169	5.3	1.0	12		80	0,8600		0,0,4300	no	missense,missense	TMTC1	NM_001193451.1,NM_175861.3	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	165/883,57/775	29911698	1,13005	2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29911698C>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.493G>A	12.37:g.29911698C>T	ENSP00000442046:p.Val165Ile					TMTC1_uc001rjc.1_Missense_Mutation_p.V57I	p.V57I	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			3	643	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		165			Helical; (Potential).		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.169G>A	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099887	0.94197	2.27E-4	0.0	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;D;D;D;T	0.94232	-1.12;-3.38;-3.38;-3.38;0.76	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.96759	0.8942	M	0.83012	2.62	0.46749	D	0.999185	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.972	D	0.96611	0.9452	9	.	.	.	-21.5472	17.8489	0.88739	0.0:1.0:0.0:0.0	.	57;165	Q8IUR5-3;Q8IUR5	.;TMTC1_HUMAN	I	57;165;165;165;57	ENSP00000256062:V57I;ENSP00000448112:V165I;ENSP00000449043:V165I;ENSP00000442046:V165I;ENSP00000370622:V57I	.	V	-	1	0	TMTC1	29802965	1.000000	0.71417	0.996000	0.52242	0.922000	0.55478	6.601000	0.74136	2.624000	0.88883	0.655000	0.94253	GTT		0.393	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		17	28	0	0	0	0.000175454	0	17	28				
CNTN1	1272	broad.mit.edu	37	12	41316191	41316191	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:41316191G>C	ENST00000551295.2	+	5	478	c.361G>C	c.(361-363)Ggg>Cgg	p.G121R	CNTN1_ENST00000360099.3_Missense_Mutation_p.G121R|CNTN1_ENST00000547702.1_Missense_Mutation_p.G121R|CNTN1_ENST00000547849.1_Missense_Mutation_p.G121R|CNTN1_ENST00000348761.2_Missense_Mutation_p.G110R|CNTN1_ENST00000347616.1_Missense_Mutation_p.G121R	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	121	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.G121R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TAATAACTACGGGATGGTCAG	0.398																																							uc001rmm.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|large_intestine(1)|skin(1)	9						c.(361-363)GGG>CGG		contactin 1 isoform 1 precursor							120.0	107.0	111.0					12																	41316191		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41316191G>C	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.361G>C	12.37:g.41316191G>C	ENSP00000447006:p.Gly121Arg					CNTN1_uc009zjy.1_Missense_Mutation_p.G121R|CNTN1_uc001rmn.1_Missense_Mutation_p.G110R|CNTN1_uc001rmo.2_Missense_Mutation_p.G121R	p.G121R	NM_001843	NP_001834	Q12860	CNTN1_HUMAN			5	474	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	121			Ig-like C2-type 1.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.361G>C	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146233	0.94603	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33	5.65	5.65	0.86999	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85720	0.5762	H	0.97291	3.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90043	0.4143	10	0.87932	D	0	.	20.1002	0.97872	0.0:0.0:1.0:0.0	.	121;110;121	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	R	121;121;121;121;121;110	ENSP00000448004:G121R;ENSP00000447006:G121R;ENSP00000448653:G121R;ENSP00000325660:G121R;ENSP00000353213:G121R;ENSP00000261160:G110R	ENSP00000325660:G121R	G	+	1	0	CNTN1	39602458	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	9.230000	0.95299	2.833000	0.97629	0.585000	0.79938	GGG		0.398	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		4	66	0	0	0	1.23904e-05	0	4	66				
TMEM117	84216	broad.mit.edu	37	12	44693440	44693441	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:44693440_44693441GG>TT	ENST00000266534.3	+	6	813_814	c.686_687GG>TT	c.(685-687)cGG>cTT	p.R229L	TMEM117_ENST00000536799.1_Missense_Mutation_p.R125L|TMEM117_ENST00000551577.1_Missense_Mutation_p.R229L	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	229						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.R229L(2)|p.R229Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		AAGCTGAATCGGGGATTTTTGC	0.436																																							uc001rod.2		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)		0						c.(685-687)CGG>CTT		transmembrane protein 117																																				SO:0001583	missense	84216					endoplasmic reticulum|integral to membrane		g.chr12:44693440_44693441GG>TT	BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	Exception_encountered	12.37:g.44693440_44693441delinsTT	ENSP00000266534:p.Arg229Leu					TMEM117_uc001roe.2_Missense_Mutation_p.R125L|TMEM117_uc009zkc.2_Missense_Mutation_p.R229L	p.R229L	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN		GBM - Glioblastoma multiforme(48;0.124)	6	752_753	+	Lung SC(27;0.192)		229						Missense_Mutation	DNP	ENST00000266534.3	37	c.686_687GG>TT	CCDS8745.1																																																																																				0.436	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256		8	222	0	0	0	6.4e-05	0	8	222				
ARID2	196528	broad.mit.edu	37	12	46230610	46230610	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:46230610C>A	ENST00000334344.6	+	8	1031	c.859C>A	c.(859-861)Ctt>Att	p.L287I	ARID2_ENST00000444670.1_5'Flank|ARID2_ENST00000422737.1_Missense_Mutation_p.L138I|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	287					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.L287I(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACAGCGGGTACTTCAGATTGC	0.413			"""N, S, F"""		hepatocellular carcinoma																																		uc001ros.1		NA		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(859-861)CTT>ATT		AT rich interactive domain 2 (ARID, RFX-like)							163.0	158.0	159.0					12																	46230610		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46230610C>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.859C>A	12.37:g.46230610C>A	ENSP00000335044:p.Leu287Ile					ARID2_uc001ror.2_Missense_Mutation_p.L287I|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_5'Flank|ARID2_uc001rot.1_5'UTR	p.L287I	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	8	859	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	287					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.859C>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997711	0.93227	.	.	ENSG00000189079	ENST00000334344;ENST00000422737	T;T	0.50277	0.75;0.75	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.68668	0.3026	M	0.64404	1.975	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.68454	-0.5404	10	0.66056	D	0.02	-11.8766	20.2009	0.98259	0.0:1.0:0.0:0.0	.	287	Q68CP9	ARID2_HUMAN	I	287;138	ENSP00000335044:L287I;ENSP00000415650:L138I	ENSP00000335044:L287I	L	+	1	0	ARID2	44516877	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.783000	0.85696	2.767000	0.95098	0.591000	0.81541	CTT		0.413	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		41	73	1	0	2.95478e-19	0.000374591	7.28633e-18	41	73				
KMT2D	8085	broad.mit.edu	37	12	49445233	49445233	+	Missense_Mutation	SNP	G	G	A	rs398123736		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:49445233G>A	ENST00000301067.7	-	10	2232	c.2233C>T	c.(2233-2235)Ccc>Tcc	p.P745S		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	745	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.P745S(1)									TCAGGCCGGGGTGACAGGTGC	0.697																																							uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		1	Substitution - Missense(1)		lung(1)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(2233-2235)CCC>TCC		myeloid/lymphoid or mixed-lineage leukemia 2							22.0	26.0	25.0					12																	49445233		1852	3999	5851	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49445233G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2233C>T	12.37:g.49445233G>A	ENSP00000301067:p.Pro745Ser	HNSCC(34;0.089)					p.P745S	NM_003482	NP_003473	O14686	MLL2_HUMAN			10	2233	-			745	Missing (in Ref. 1; AAC51734).		Pro-rich.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.2233C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.574165	0.28092	.	.	ENSG00000167548	ENST00000301067	T	0.33654	1.4	3.8	1.97	0.26223	.	.	.	.	.	T	0.25938	0.0632	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24693	-1.0153	9	0.87932	D	0	.	8.1108	0.30914	0.2065:0.0:0.7935:0.0	.	745	O14686	MLL2_HUMAN	S	745	ENSP00000301067:P745S	ENSP00000301067:P745S	P	-	1	0	MLL2	47731500	0.892000	0.30473	0.020000	0.16555	0.011000	0.07611	1.848000	0.39309	0.587000	0.29643	0.563000	0.77884	CCC		0.697	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			12	29	0	0	0	0.000219431	0	12	29				
FAM186B	84070	broad.mit.edu	37	12	49981528	49981528	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:49981528C>T	ENST00000257894.2	-	7	2703	c.2542G>A	c.(2542-2544)Ggg>Agg	p.G848R	FAM186B_ENST00000551047.1_Intron|FAM186B_ENST00000544141.1_Intron	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	848						protein complex (GO:0043234)		p.G848R(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATCTGCTTCCCCTGTTGGCTG	0.557																																							uc001ruo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2542-2544)GGG>AGG		hypothetical protein LOC84070							53.0	51.0	52.0					12																	49981528		2203	4300	6503	SO:0001583	missense	84070					protein complex		g.chr12:49981528C>T	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.2542G>A	12.37:g.49981528C>T	ENSP00000257894:p.Gly848Arg					FAM186B_uc010smk.1_Intron	p.G848R	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN			7	2715	-			848					B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	c.2542G>A	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.081505	0.36758	.	.	ENSG00000135436	ENST00000532262;ENST00000257894	T;T	0.11712	2.75;2.95	5.4	2.57	0.30868	.	0.868287	0.09781	N	0.756707	T	0.10594	0.0259	L	0.54323	1.7	0.09310	N	1	P	0.40431	0.717	B	0.37198	0.243	T	0.28870	-1.0030	10	0.56958	D	0.05	-6.6631	4.0463	0.09774	0.1668:0.587:0.1606:0.0856	.	848	Q8IYM0	F186B_HUMAN	R	461;848	ENSP00000436995:G461R;ENSP00000257894:G848R	ENSP00000257894:G848R	G	-	1	0	FAM186B	48267795	0.017000	0.18338	0.036000	0.18154	0.861000	0.49209	0.678000	0.25277	0.395000	0.25257	-0.305000	0.09177	GGG		0.557	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		17	22	0	0	0	9.7654e-05	0	17	22				
NCKAP5L	57701	broad.mit.edu	37	12	50189231	50189231	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:50189231C>G	ENST00000335999.6	-	8	2613	c.2412G>C	c.(2410-2412)ctG>ctC	p.L804L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	800	Pro-rich.							p.L804L(1)|p.L395L(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TGGGCTTGCCCAGGCTTGGGG	0.652																																							uc009zlk.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(2410-2412)CTG>CTC		NCK-associated protein 5-like							62.0	64.0	63.0					12																	50189231		1952	4143	6095	SO:0001819	synonymous_variant	57701							g.chr12:50189231C>G	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.2412G>C	12.37:g.50189231C>G						NCKAP5L_uc001rvc.3_Silent_p.L8L|NCKAP5L_uc001rvb.2_Silent_p.L397L	p.L804L	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN			8	2614	-			800			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	ENST00000335999.6	37	c.2412G>C	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	C	5.377	0.254892	0.10185	.	.	ENSG00000167566	ENST00000433948	.	.	.	5.0	-7.39	0.01402	.	.	.	.	.	T	0.35422	0.0931	.	.	.	0.50313	D	0.999867	.	.	.	.	.	.	T	0.41556	-0.9502	4	.	.	.	-11.3436	2.4401	0.04492	0.3971:0.273:0.2009:0.129	.	.	.	.	R	519	.	.	G	-	1	0	NCKAP5L	48475498	0.005000	0.15991	0.876000	0.34364	0.994000	0.84299	-1.181000	0.03085	-1.090000	0.03069	0.561000	0.74099	GGG		0.652	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		4	54	0	0	0	1.23904e-05	0	4	54				
SLC4A8	9498	broad.mit.edu	37	12	51888800	51888800	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:51888800G>C	ENST00000453097.2	+	21	3058	c.2841G>C	c.(2839-2841)gtG>gtC	p.V947V	SLC4A8_ENST00000358657.3_Silent_p.V974V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.V947V(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGCGGCATGTGCCGCTGCGCA	0.507																																							uc001rys.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|pancreas(1)|skin(1)	5						c.(2839-2841)GTG>GTC		solute carrier family 4, sodium bicarbonate							148.0	123.0	132.0					12																	51888800		2203	4300	6503	SO:0001819	synonymous_variant	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51888800G>C	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2841G>C	12.37:g.51888800G>C						SLC4A8_uc001rym.2_Silent_p.V894V|SLC4A8_uc001ryn.2_Silent_p.V894V|SLC4A8_uc001ryo.2_Silent_p.V894V|SLC4A8_uc010snj.1_Silent_p.V974V|SLC4A8_uc001ryr.2_Silent_p.V947V	p.V947V	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	21	3019	+			947			Extracellular (Potential).			Silent	SNP	ENST00000453097.2	37	c.2841G>C	CCDS44890.1																																																																																				0.507	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1	NM_004858		39	70	0	0	0	0.000270559	0	39	70				
SCN8A	6334	broad.mit.edu	37	12	52159702	52159702	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:52159702G>T	ENST00000354534.6	+	16	2970	c.2792G>T	c.(2791-2793)cGa>cTa	p.R931L	SCN8A_ENST00000550891.1_Missense_Mutation_p.R931L|SCN8A_ENST00000545061.1_Missense_Mutation_p.R931L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	931					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.R931L(2)|p.R931Q(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ATTGTCTTTCGAGTGTTGTGC	0.498																																							uc001ryw.2		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(7)	7						c.(2791-2793)CGA>CTA		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						227.0	231.0	230.0					12																	52159702		2201	4300	6501	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52159702G>T	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2792G>T	12.37:g.52159702G>T	ENSP00000346534:p.Arg931Leu					SCN8A_uc010snl.1_Missense_Mutation_p.R796L|SCN8A_uc001ryy.2_Missense_Mutation_p.R796L	p.R931L	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	16	2970	+			931			II.		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.2792G>T	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.047945	0.93740	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.98822	-4.33;-5.16;-5.16;-5.16	4.56	4.56	0.56223	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99423	0.9796	H	0.95539	3.685	0.80722	D	1	D;D;D	0.89917	1.0;0.992;1.0	D;D;D	0.97110	1.0;0.979;1.0	D	0.98331	1.0533	10	0.87932	D	0	.	18.6486	0.91421	0.0:0.0:1.0:0.0	.	931;931;931	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	L	931;931;931;931;844	ENSP00000448415:R931L;ENSP00000346534:R931L;ENSP00000440360:R931L;ENSP00000347255:R931L	ENSP00000346534:R931L	R	+	2	0	SCN8A	50445969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.817000	0.96982	0.563000	0.77884	CGA		0.498	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		8	282	1	0	0.000442599	0.000442599	0.00887779	8	282				
ESPL1	9700	broad.mit.edu	37	12	53682997	53682997	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:53682997G>C	ENST00000257934.4	+	21	4923	c.4832G>C	c.(4831-4833)cGg>cCg	p.R1611P	ESPL1_ENST00000552462.1_Missense_Mutation_p.R1611P	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1611					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)	p.R1611P(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGGGCCACCGGGATCCTTAT	0.602																																					Colon(53;1069 1201 2587 5382)	Colon(53;1069 1201 2587 5382)	uc001sck.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|kidney(1)|skin(1)	3						c.(4831-4833)CGG>CCG		separase							142.0	135.0	137.0					12																	53682997		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53682997G>C	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.4832G>C	12.37:g.53682997G>C	ENSP00000257934:p.Arg1611Pro					ESPL1_uc001scj.2_Missense_Mutation_p.R1286P	p.R1611P	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			21	4923	+			1611						Missense_Mutation	SNP	ENST00000257934.4	37	c.4832G>C	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638406	0.47153	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12361	2.69;2.69	5.41	3.48	0.39840	.	0.116929	0.64402	D	0.000016	T	0.10165	0.0249	L	0.29908	0.895	0.29708	N	0.839623	B	0.25312	0.123	B	0.28784	0.094	T	0.10428	-1.0630	10	0.51188	T	0.08	.	6.8323	0.23917	0.3662:0.0:0.6338:0.0	.	1611	Q14674	ESPL1_HUMAN	P	1611;1286;1611	ENSP00000257934:R1611P;ENSP00000449831:R1611P	ENSP00000257934:R1611P	R	+	2	0	ESPL1	51969264	0.876000	0.30132	0.995000	0.50966	0.933000	0.57130	0.617000	0.24359	0.746000	0.32786	0.563000	0.77884	CGG		0.602	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		4	164	0	0	0	0.00024832	0	4	164				
NCKAP1L	3071	broad.mit.edu	37	12	54925050	54925050	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:54925050G>C	ENST00000293373.6	+	23	2592	c.2513G>C	c.(2512-2514)cGg>cCg	p.R838P	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R788P	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	838					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.R838P(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCAGAGATGCGGGCCTTGGCA	0.473																																							uc001sgc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2512-2514)CGG>CCG		NCK-associated protein 1-like							112.0	119.0	117.0					12																	54925050		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54925050G>C	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.2513G>C	12.37:g.54925050G>C	ENSP00000293373:p.Arg838Pro					NCKAP1L_uc010sox.1_Missense_Mutation_p.R380P|NCKAP1L_uc010soy.1_Missense_Mutation_p.R788P	p.R838P	NM_005337	NP_005328	P55160	NCKPL_HUMAN			23	2592	+			838					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.2513G>C	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686586	0.68157	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.37584	1.19;1.19	4.95	4.95	0.65309	.	0.206001	0.36815	N	0.002381	T	0.50326	0.1609	M	0.72353	2.195	0.49483	D	0.999798	D	0.54397	0.966	P	0.57009	0.811	T	0.52305	-0.8593	10	0.72032	D	0.01	-15.1396	9.4483	0.38710	0.094:0.0:0.906:0.0	.	838	P55160	NCKPL_HUMAN	P	838;788	ENSP00000293373:R838P;ENSP00000445596:R788P	ENSP00000293373:R838P	R	+	2	0	NCKAP1L	53211317	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.679000	0.46909	2.735000	0.93741	0.655000	0.94253	CGG		0.473	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		5	235	0	0	0	1.23904e-05	0	5	235				
PA2G4	5036	broad.mit.edu	37	12	56500978	56500979	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:56500978_56500979GG>TT	ENST00000303305.6	+	4	750_751	c.331_332GG>TT	c.(331-333)GGg>TTg	p.G111L	RP11-603J24.17_ENST00000548595.1_RNA|RP11-603J24.9_ENST00000548861.1_Missense_Mutation_p.G92L|PA2G4_ENST00000552766.1_Missense_Mutation_p.G111L	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	111					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)	p.G111L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CAGTGACCTTGGGGTCCATGTG	0.416																																							uc001sjm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(331-333)GGG>TTG		ErbB3-binding protein 1																																				SO:0001583	missense	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56500978_56500979GG>TT	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	Exception_encountered	12.37:g.56500978_56500979delinsTT	ENSP00000302886:p.Gly111Leu					PA2G4_uc009zol.2_Missense_Mutation_p.G111L|PA2G4_uc009zom.2_Missense_Mutation_p.G111L	p.G111L	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		4	750_751	+			111					O43846|Q9UM59	Missense_Mutation	DNP	ENST00000303305.6	37	c.331_332GG>TT	CCDS8902.1																																																																																				0.416	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		10	218	0	0	0	6.4e-05	0	10	218				
PAN2	9924	broad.mit.edu	37	12	56713245	56713245	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:56713245C>G	ENST00000425394.2	-	23	3505	c.3129G>C	c.(3127-3129)tcG>tcC	p.S1043S	PAN2_ENST00000257931.5_Silent_p.S1042S|PAN2_ENST00000440411.3_Silent_p.S1039S|PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000548043.1_Silent_p.S1043S	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	198					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.S1039S(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	GCTTTATACCCGAGTATTGAG	0.443																																							uc001skx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(3127-3129)TCG>TCC		PAN2 polyA specific ribonuclease subunit homolog							158.0	153.0	154.0					12																	56713245		2203	4300	6503	SO:0001819	synonymous_variant	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56713245C>G	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.3129G>C	12.37:g.56713245C>G						PAN2_uc001skw.2_Silent_p.S191S|PAN2_uc001skz.2_Silent_p.S1042S|PAN2_uc001sky.2_Silent_p.S1039S	p.S1043S	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			23	3502	-			1043			Exonuclease.			Silent	SNP	ENST00000425394.2	37	c.3129G>C	CCDS44922.1																																																																																				0.443	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		4	122	0	0	0	3.59834e-05	0	4	122				
MYO1A	4640	broad.mit.edu	37	12	57440845	57440845	+	Splice_Site	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:57440845A>T	ENST00000442789.2	-	7	764	c.477T>A	c.(475-477)ttT>ttA	p.F159L	MYO1A_ENST00000544473.1_Intron|MYO1A_ENST00000300119.3_Splice_Site_p.F159L	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	159	Myosin motor.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.F159L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						ATTTACTCACAAATCGGGAGG	0.522																																							uc001smw.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|urinary_tract(1)	7						c.(475-477)TTT>TTA		myosin IA							83.0	76.0	78.0					12																	57440845		2203	4300	6503	SO:0001630	splice_region_variant	4640				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr12:57440845A>T	L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.477+1T>A	12.37:g.57440845A>T						MYO1A_uc010sqz.1_Intron|MYO1A_uc009zpd.2_Missense_Mutation_p.F159L	p.F159L	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN			6	720	-			159			Myosin head-like.		Q9UQD7	Missense_Mutation	SNP	ENST00000442789.2	37	c.477T>A	CCDS8929.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.956296	0.92726	.	.	ENSG00000166866	ENST00000300119;ENST00000442789	T;T	0.78481	-1.18;-1.18	5.19	2.82	0.32997	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.90587	0.7049	H	0.97682	4.055	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.89328	0.3645	9	.	.	.	.	8.1928	0.31379	0.831:0.0:0.169:0.0	.	159	Q9UBC5	MYO1A_HUMAN	L	159	ENSP00000300119:F159L;ENSP00000393392:F159L	.	F	-	3	2	MYO1A	55727112	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.122000	0.31295	0.388000	0.25054	0.533000	0.62120	TTT		0.522	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313833.2	NM_005379	Missense_Mutation	15	29	0	0	0	5.01169e-05	0	15	29				
STAC3	246329	broad.mit.edu	37	12	57642836	57642836	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:57642836G>C	ENST00000332782.2	-	3	523	c.322C>G	c.(322-324)Cgg>Ggg	p.R108G	STAC3_ENST00000554578.1_Missense_Mutation_p.R69G|STAC3_ENST00000546246.2_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	108					intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.R108G(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						ACAATCATCCGGGCACAGACA	0.483																																							uc001snp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(322-324)CGG>GGG		SH3 and cysteine rich domain 3							102.0	101.0	102.0					12																	57642836		2203	4300	6503	SO:0001583	missense	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57642836G>C	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.322C>G	12.37:g.57642836G>C	ENSP00000329200:p.Arg108Gly					STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Missense_Mutation_p.R69G|STAC3_uc010srm.1_Intron	p.R108G	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN			3	517	-			108			Phorbol-ester/DAG-type.		B4DUK9|Q96HU5	Missense_Mutation	SNP	ENST00000332782.2	37	c.322C>G	CCDS8936.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908484	0.72868	.	.	ENSG00000185482	ENST00000554578;ENST00000332782;ENST00000553489	D;D;D	0.92805	-3.11;-3.11;-3.11	5.58	4.58	0.56647	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.88258	0.6388	N	0.16833	0.445	0.80722	D	1	P	0.51449	0.945	P	0.50109	0.631	D	0.88085	0.2809	10	0.46703	T	0.11	-7.2572	13.1529	0.59500	0.0:0.0:0.7567:0.2433	.	108	Q96MF2	STAC3_HUMAN	G	69;108;108	ENSP00000452068:R69G;ENSP00000329200:R108G;ENSP00000452299:R108G	ENSP00000329200:R108G	R	-	1	2	STAC3	55929103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.448000	0.60027	2.813000	0.96785	0.655000	0.94253	CGG		0.483	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		5	100	0	0	0	1.23904e-05	0	5	100				
SLC26A10	65012	broad.mit.edu	37	12	58014048	58014049	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:58014048_58014049GG>TT	ENST00000320442.4	+	1	356_357	c.45_46GG>TT	c.(43-48)ctGGga>ctTTga	p.G16*	AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|SLC26A10_ENST00000379218.2_Nonsense_Mutation_p.G16*	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	16						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)	p.G16*(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTAAGAGTCTGGGAAGTGCATT	0.535																																							uc001spe.2		NA																	2	Substitution - Nonsense(2)		lung(2)	large_intestine(1)|central_nervous_system(1)	2						c.(43-48)CTGGGA>CTTTGA		solute carrier family 26, member 10																																				SO:0001587	stop_gained	65012					integral to membrane	antiporter activity	g.chr12:58014048_58014049GG>TT		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	Exception_encountered	12.37:g.58014048_58014049delinsTT	ENSP00000320217:p.Gly16*					uc001spc.2_5'Flank|SLC26A10_uc001spf.2_RNA	p.G16*	NM_133489	NP_597996	Q8NG04	S2610_HUMAN			1	356_357	+	Melanoma(17;0.122)		16					A6NMJ2|B6ZDQ3|Q6ZWI7	Nonsense_Mutation	DNP	ENST00000320442.4	37	c.45_46GG>TT	CCDS8949.2																																																																																				0.535	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			12	231	0	0	0	6.4e-05	0	12	231				
AVIL	10677	broad.mit.edu	37	12	58191674	58191674	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:58191674C>G	ENST00000257861.3	-	19	2881	c.2451G>C	c.(2449-2451)ggG>ggC	p.G817G	TSFM_ENST00000550559.1_Intron|TSFM_ENST00000543727.1_Intron|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000537081.1_Silent_p.G810G	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	817	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.|Headpiece. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)	p.G817G(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TTTAGAAAAGCCCCTTTTCTT	0.443																																							uc001sqj.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(2449-2451)GGG>GGC		advillin							134.0	125.0	128.0					12																	58191674		2203	4300	6503	SO:0001819	synonymous_variant	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58191674C>G	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.2451G>C	12.37:g.58191674C>G						AVIL_uc009zqe.1_Silent_p.G810G	p.G817G	NM_006576	NP_006567	O75366	AVIL_HUMAN			19	2480	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		817			Headpiece (By similarity).|HP.		B2RAU7|Q2NKM9	Silent	SNP	ENST00000257861.3	37	c.2451G>C	CCDS8959.1																																																																																				0.443	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576		22	64	0	0	0	0.000229342	0	22	64				
SYT1	6857	broad.mit.edu	37	12	79689968	79689968	+	Silent	SNP	C	C	A	rs370573414		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:79689968C>A	ENST00000261205.4	+	7	1251	c.594C>A	c.(592-594)gtC>gtA	p.V198V	SYT1_ENST00000552744.1_Silent_p.V198V|SYT1_ENST00000457153.2_Silent_p.V195V|SYT1_ENST00000393240.3_Silent_p.V198V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	198	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)	p.V198V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AGACAAAAGTCCACCGAAAAA	0.388																																							uc001sys.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|pancreas(2)|ovary(1)	6						c.(592-594)GTC>GTA		synaptotagmin I							102.0	106.0	105.0					12																	79689968		2203	4300	6503	SO:0001819	synonymous_variant	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79689968C>A		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.594C>A	12.37:g.79689968C>A						SYT1_uc001syt.2_Silent_p.V198V|SYT1_uc001syu.2_Silent_p.V195V|SYT1_uc001syv.2_Silent_p.V198V	p.V198V	NM_001135805	NP_001129277	P21579	SYT1_HUMAN			8	1265	+			198			Cytoplasmic (Potential).|Phospholipid binding (Probable).|C2 1.		Q6AI31	Silent	SNP	ENST00000261205.4	37	c.594C>A	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	C	8.222	0.802687	0.16397	.	.	ENSG00000067715	ENST00000549559	.	.	.	5.52	3.71	0.42584	.	.	.	.	.	T	0.61211	0.2329	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57219	-0.7849	4	.	.	.	.	10.313	0.43721	0.0:0.788:0.0:0.212	.	.	.	.	Y	100	.	.	S	+	2	0	SYT1	78214099	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.168000	0.42424	0.817000	0.34445	-0.145000	0.13849	TCC		0.388	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		27	55	1	0	1.12875e-08	0.000147802	2.55875e-07	27	55				
POLR3B	55703	broad.mit.edu	37	12	106763120	106763121	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:106763120_106763121CC>AA	ENST00000228347.4	+	5	517_518	c.295_296CC>AA	c.(295-297)CCt>AAt	p.P99N	POLR3B_ENST00000539066.1_Missense_Mutation_p.P41N	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	99					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.P99N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ACCAGTGTCCCCTCATGAGGTA	0.337																																							uc001tlp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(295-297)CCT>AAT		DNA-directed RNA polymerase III B isoform 1																																				SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106763120_106763121CC>AA	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	Exception_encountered	12.37:g.106763120_106763121delinsAA	ENSP00000228347:p.Pro99Asn					POLR3B_uc001tlq.2_Missense_Mutation_p.P41N	p.P99N	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			5	517_518	+			99					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	DNP	ENST00000228347.4	37	c.295_296CC>AA	CCDS9105.1																																																																																				0.337	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		10	336	0	0	0	6.4e-05	0	10	336				
ACACB	32	broad.mit.edu	37	12	109690858	109690858	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:109690858G>C	ENST00000338432.7	+	43	6059	c.5940G>C	c.(5938-5940)ctG>ctC	p.L1980L	ACACB_ENST00000543201.1_Silent_p.L646L|ACACB_ENST00000377854.5_Silent_p.L1910L|ACACB_ENST00000377848.3_Silent_p.L1980L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1980	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)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.L646L(1)|p.L1980L(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	ACAACCAGCTGGGTGGCGTTC	0.522																																							uc001tob.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(5938-5940)CTG>CTC		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						316.0	253.0	274.0					12																	109690858		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109690858G>C	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5940G>C	12.37:g.109690858G>C						ACACB_uc001toc.2_Silent_p.L1980L|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.L646L	p.L1980L	NM_001093	NP_001084	O00763	ACACB_HUMAN			43	6059	+			1980			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.5940G>C	CCDS31898.1																																																																																				0.522	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		6	180	0	0	0	0.000157383	0	6	180				
RBM19	9904	broad.mit.edu	37	12	114395815	114395815	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:114395815C>A	ENST00000545145.2	-	6	690	c.612G>T	c.(610-612)gaG>gaT	p.E204D	RBM19_ENST00000392561.3_Missense_Mutation_p.E204D|RBM19_ENST00000261741.5_Missense_Mutation_p.E204D	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	204					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.E204D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGTCCGACAGCTCCTTCTGCA	0.527																																							uc009zwi.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.(610-612)GAG>GAT		RNA binding motif protein 19							123.0	112.0	116.0					12																	114395815		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114395815C>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.612G>T	12.37:g.114395815C>A	ENSP00000442053:p.Glu204Asp					RBM19_uc001tvn.3_Missense_Mutation_p.E204D|RBM19_uc001tvm.2_Missense_Mutation_p.E204D	p.E204D	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			6	756	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		204					A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.612G>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430096	0.25726	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.05925	3.37;3.37;3.37	5.04	3.23	0.37069	.	0.307514	0.35838	N	0.002946	T	0.03959	0.0111	L	0.29908	0.895	0.32552	N	0.532244	B	0.10296	0.003	B	0.11329	0.006	T	0.28618	-1.0038	10	0.15952	T	0.53	-32.5249	3.3021	0.06987	0.1395:0.5703:0.1353:0.1548	.	204	Q9Y4C8	RBM19_HUMAN	D	204	ENSP00000442053:E204D;ENSP00000376344:E204D;ENSP00000261741:E204D	ENSP00000261741:E204D	E	-	3	2	RBM19	112880198	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.724000	0.25954	0.730000	0.32425	0.655000	0.94253	GAG		0.527	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		43	71	1	0	7.05121e-23	0.000509022	1.77052e-21	43	71				
GCN1L1	10985	broad.mit.edu	37	12	120578771	120578771	+	Silent	SNP	G	G	T	rs541410880		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:120578771G>T	ENST00000300648.6	-	45	5898	c.5886C>A	c.(5884-5886)ccC>ccA	p.P1962P		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1962					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.P1962P(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGATGATCTCGGGGAGGATTT	0.527																																							uc001txo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(5884-5886)CCC>CCA		GCN1 general control of amino-acid synthesis							151.0	152.0	152.0					12																	120578771		2013	4195	6208	SO:0001819	synonymous_variant	10985				regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	g.chr12:120578771G>T	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5886C>A	12.37:g.120578771G>T							p.P1962P	NM_006836	NP_006827	Q92616	GCN1L_HUMAN			45	5899	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1962			HEAT 16.		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	c.5886C>A	CCDS41847.1																																																																																				0.527	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			6	159	1	0	0.000157383	0.000157383	0.00327129	6	159				
C12orf43	64897	broad.mit.edu	37	12	121442869	121442869	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:121442869G>A	ENST00000288757.3	-	5	411	c.389C>T	c.(388-390)cCt>cTt	p.P130L	C12orf43_ENST00000445832.3_Missense_Mutation_p.P100L|C12orf43_ENST00000366211.2_Missense_Mutation_p.P88L|C12orf43_ENST00000537817.1_Missense_Mutation_p.P131L|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000539736.1_Intron	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	130								p.P130L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACGGCCTCCAGGGACAGAtgt	0.458																																							uc001tzh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(388-390)CCT>CTT		hypothetical protein LOC64897							48.0	49.0	49.0					12																	121442869		2193	4288	6481	SO:0001583	missense	64897							g.chr12:121442869G>A	AK022510	CCDS66486.1, CCDS66487.1	12q24.31	2012-05-30			ENSG00000157895	ENSG00000157895			25719	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001286195		Approved	FLJ12448	uc001tzh.1	Q96C57	OTTHUMG00000169150	ENST00000288757.3:c.389C>T	12.37:g.121442869G>A	ENSP00000288757:p.Pro130Leu					C12orf43_uc009zxa.1_Missense_Mutation_p.P161L|C12orf43_uc010szo.1_Missense_Mutation_p.P88L|C12orf43_uc010szp.1_Intron|C12orf43_uc001tzi.1_Missense_Mutation_p.P130L	p.P130L	NM_022895	NP_075046	Q96C57	CL043_HUMAN			5	412	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		130					Q53HF0|Q9H9Z7	Missense_Mutation	SNP	ENST00000288757.3	37	c.389C>T	CCDS9210.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342441	0.61073	.	.	ENSG00000157895	ENST00000445832;ENST00000288757;ENST00000537817;ENST00000366211;ENST00000538296;ENST00000535367	T;T;T;T	0.62105	0.08;0.05;0.08;0.06	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.80788	0.4690	M	0.80183	2.485	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	0.81858	-0.0739	10	0.72032	D	0.01	-17.8817	17.2804	0.87127	0.0:0.0:1.0:0.0	.	88;131;130	F6TFQ5;F5H7W8;Q96C57	.;.;CL043_HUMAN	L	100;130;131;88;67;84	ENSP00000409788:P100L;ENSP00000288757:P130L;ENSP00000442224:P131L;ENSP00000442041:P67L	ENSP00000288757:P130L	P	-	2	0	C12orf43	119927252	1.000000	0.71417	0.948000	0.38648	0.032000	0.12392	4.686000	0.61700	2.937000	0.99478	0.650000	0.86243	CCT		0.458	C12orf43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022895		7	14	0	0	0	0.000157383	0	7	14				
MLXIP	22877	broad.mit.edu	37	12	122614649	122614649	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:122614649C>T	ENST00000319080.7	+	6	1032	c.900C>T	c.(898-900)ccC>ccT	p.P300P	MLXIP_ENST00000538698.1_5'Flank					MLX interacting protein									p.P300P(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GGCCCAATCCCCGGGAAATAG	0.602																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	Esophageal Squamous(105;787 1493 16200 18566 52466)	uc001ubq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(898-900)CCC>CCT		MLX interacting protein							40.0	42.0	41.0					12																	122614649		1899	4108	6007	SO:0001819	synonymous_variant	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122614649C>T	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.900C>T	12.37:g.122614649C>T						MLXIP_uc001ubr.2_Silent_p.P51P|MLXIP_uc001ubs.1_5'Flank	p.P300P	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	6	900	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	300			Required for cytoplasmic localization.			Silent	SNP	ENST00000319080.7	37	c.900C>T																																																																																					0.602	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		7	9	0	0	0	0.000157383	0	7	9				
PITPNM2	57605	broad.mit.edu	37	12	123481914	123481914	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:123481914G>C	ENST00000542749.1	-	9	1493	c.1430C>G	c.(1429-1431)cCc>cGc	p.P477R	PITPNM2_ENST00000280562.5_Missense_Mutation_p.P477R|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P477R|PITPNM2_ENST00000451868.2_5'Flank|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P198R			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	477					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)	p.P477R(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GGGCGGGCAGGGCACCAGGCG	0.647																																							uc001uej.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1429-1431)CCC>CGC		phosphatidylinositol transfer protein,							77.0	76.0	76.0					12																	123481914		2203	4300	6503	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123481914G>C	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1430C>G	12.37:g.123481914G>C	ENSP00000437611:p.Pro477Arg					PITPNM2_uc001uek.1_Missense_Mutation_p.P477R	p.P477R	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	10	1569	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		477					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.1430C>G	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532184	0.85812	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	M	0.80183	2.485	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.58618	-0.7605	10	0.87932	D	0	-33.8827	17.9593	0.89079	0.0:0.0:1.0:0.0	.	477;477	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	R	477;477;198;477	ENSP00000280562:P477R;ENSP00000322218:P477R;ENSP00000376223:P198R;ENSP00000437611:P477R	ENSP00000280562:P477R	P	-	2	0	PITPNM2	122047867	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.833000	0.99426	2.235000	0.73313	0.563000	0.77884	CCC		0.647	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		21	54	0	0	0	9.22233e-05	0	21	54				
DDX55	57696	broad.mit.edu	37	12	124104073	124104073	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:124104073C>G	ENST00000238146.4	+	13	1478	c.1428C>G	c.(1426-1428)ccC>ccG	p.P476P	DDX55_ENST00000541259.1_3'UTR|SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000538744.1_Silent_p.P445P|DDX55_ENST00000421670.3_Silent_p.P83P	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	476						membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.P476P(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		ATTTTGTGCCCGTGGACGTTA	0.438																																							uc001ufi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1426-1428)CCC>CCG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							110.0	108.0	109.0					12																	124104073		2203	4300	6503	SO:0001819	synonymous_variant	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124104073C>G	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1428C>G	12.37:g.124104073C>G						DDX55_uc001ufh.2_3'UTR|DDX55_uc001ufk.2_Silent_p.P329P|DDX55_uc001ufl.2_Silent_p.P83P	p.P476P	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	13	1452	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		476					Q658L6|Q8IYH0|Q9HCH7	Silent	SNP	ENST00000238146.4	37	c.1428C>G	CCDS9251.1																																																																																				0.438	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			4	146	0	0	0	0.00024832	0	4	146				
DHX37	57647	broad.mit.edu	37	12	125444911	125444911	+	Missense_Mutation	SNP	G	G	C	rs114212811	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:125444911G>C	ENST00000308736.2	-	16	2202	c.2104C>G	c.(2104-2106)Cgg>Ggg	p.R702G	DHX37_ENST00000544745.1_Missense_Mutation_p.R489G	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	702	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		ACAGGCCTCCGGGTGATTTCT	0.527																																							uc001ugy.2		NA																	0				skin(1)	1						c.(2104-2106)CGG>GGG		DEAH (Asp-Glu-Ala-His) box polypeptide 37							93.0	101.0	98.0					12																	125444911		2203	4300	6503	SO:0001583	missense	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125444911G>C	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2104C>G	12.37:g.125444911G>C	ENSP00000311135:p.Arg702Gly						p.R702G	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	16	2203	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		702			Helicase C-terminal.		Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	37	c.2104C>G	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673571	0.67928	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03553	3.89;3.89	5.62	2.59	0.31030	Helicase, C-terminal (1);	0.053759	0.64402	D	0.000001	T	0.19967	0.0480	H	0.94808	3.585	0.44862	D	0.997871	D	0.60160	0.987	P	0.55455	0.776	T	0.40040	-0.9584	10	0.87932	D	0	-15.4238	14.4223	0.67193	0.0:0.0:0.4996:0.5004	.	702	Q8IY37	DHX37_HUMAN	G	702;489	ENSP00000311135:R702G;ENSP00000439009:R489G	ENSP00000311135:R702G	R	-	1	2	DHX37	124010864	1.000000	0.71417	0.993000	0.49108	0.955000	0.61496	2.347000	0.44036	0.703000	0.31848	0.561000	0.74099	CGG		0.527	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656		5	134	0	0	0	0.000157383	0	5	134				
FZD10	11211	broad.mit.edu	37	12	130647907	130647907	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:130647907G>T	ENST00000229030.4	+	1	904	c.420G>T	c.(418-420)aaG>aaT	p.K140N	FZD10_ENST00000539839.1_Nonsense_Mutation_p.E108*|FZD10-AS1_ENST00000505807.2_RNA			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	140	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.K140N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TCCCCAACAAGAACGACCCCA	0.662																																							uc001uii.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|breast(1)|central_nervous_system(1)	5						c.(418-420)AAG>AAT		frizzled 10 precursor							90.0	92.0	92.0					12																	130647907		2203	4300	6503	SO:0001583	missense	11211				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr12:130647907G>T	AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.420G>T	12.37:g.130647907G>T	ENSP00000229030:p.Lys140Asn					uc001uig.1_5'Flank|uc001uih.1_5'Flank	p.K140N	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	1	876	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		140			FZ.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000229030.4	37	c.420G>T	CCDS9267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	9.157214|9.157214	0.99084|0.99084	.|.	.|.	ENSG00000111432|ENSG00000111432	ENST00000539839|ENST00000229030	.|T	.|0.75938	.|-0.98	5.03|5.03	5.03|5.03	0.67393|0.67393	.|Frizzled domain (5);	.|0.000000	.|0.85682	.|U	.|0.000000	.|T	.|0.62478	.|0.2431	N|N	0.19112|0.19112	0.55|0.55	0.58432|0.58432	D|D	0.999994|0.999994	.|B	.|0.18013	.|0.025	.|B	.|0.18263	.|0.021	.|T	.|0.56962	.|-0.7892	.|10	0.87932|0.24483	D|T	0|0.36	.|.	18.3422|18.3422	0.90309|0.90309	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|140	.|Q9ULW2	.|FZD10_HUMAN	X|N	108|140	.|ENSP00000229030:K140N	ENSP00000438460:E108X|ENSP00000229030:K140N	E|K	+|+	1|3	0|2	FZD10|FZD10	129213860|129213860	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.088000|4.088000	0.57678|0.57678	2.318000|2.318000	0.78349|0.78349	0.561000|0.561000	0.74099|0.74099	GAA|AAG		0.662	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				34	71	1	0	8.01111e-26	0.000509022	2.04135e-24	34	71				
POLE	5426	broad.mit.edu	37	12	133220441	133220441	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:133220441C>A	ENST00000320574.5	-	33	4315	c.4272G>T	c.(4270-4272)gaG>gaT	p.E1424D	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Missense_Mutation_p.E1397D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1424					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.E1424D(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CATATACGCCCTCGATGTCTG	0.557								DNA polymerases (catalytic subunits)																															uc001uks.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(4270-4272)GAG>GAT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							164.0	139.0	148.0					12																	133220441		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220441C>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4272G>T	12.37:g.133220441C>A	ENSP00000322570:p.Glu1424Asp					POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.E228D|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.E1397D	p.E1424D	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	33	4316	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1424					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.4272G>T	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179184	0.38511	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	T;T;T	0.11712	2.75;2.75;2.75	5.63	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.15609	0.0376	M	0.69185	2.1	0.54753	D	0.999989	B;B	0.27823	0.185;0.19	B;B	0.30782	0.12;0.118	T	0.01848	-1.1261	10	0.46703	T	0.11	.	13.0997	0.59212	0.0:0.9258:0.0:0.0742	.	1397;1424	F5H1D6;Q07864	.;DPOE1_HUMAN	D	1424;1435;1397	ENSP00000322570:E1424D;ENSP00000406383:E1435D;ENSP00000445753:E1397D	ENSP00000322570:E1424D	E	-	3	2	POLE	131730514	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	1.184000	0.32053	1.539000	0.49286	0.650000	0.86243	GAG		0.557	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		19	17	1	0	5.3912e-06	7.07596e-05	0.000118126	19	17				
POLE	5426	broad.mit.edu	37	12	133245001	133245001	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:133245001C>G	ENST00000320574.5	-	19	2157	c.2114G>C	c.(2113-2115)cGg>cCg	p.R705P	POLE_ENST00000535270.1_Missense_Mutation_p.R678P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	705					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)	p.R705P(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ATGAAAGGCCCGAGCTGGCCC	0.607								DNA polymerases (catalytic subunits)																															uc001uks.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(2113-2115)CGG>CCG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							86.0	91.0	89.0					12																	133245001		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133245001C>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2114G>C	12.37:g.133245001C>G	ENSP00000322570:p.Arg705Pro					POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R678P	p.R705P	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	19	2158	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	705					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.2114G>C	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903841	0.72754	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.16897	2.31;2.31;2.31;2.31	5.79	4.88	0.63580	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.107606	0.64402	D	0.000005	T	0.46814	0.1412	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.55835	-0.8078	10	0.87932	D	0	.	16.8055	0.85626	0.0:0.8712:0.1288:0.0	.	678;705	F5H1D6;Q07864	.;DPOE1_HUMAN	P	705;716;678;485;640	ENSP00000322570:R705P;ENSP00000406383:R716P;ENSP00000445753:R678P;ENSP00000442519:R485P	ENSP00000322570:R705P	R	-	2	0	POLE	131755074	1.000000	0.71417	0.314000	0.25224	0.526000	0.34562	4.846000	0.62860	1.427000	0.47276	0.545000	0.68477	CGG		0.607	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		4	113	0	0	0	0.00024832	0	4	113				
GOLGA3	2802	broad.mit.edu	37	12	133358952	133358952	+	Missense_Mutation	SNP	C	C	G	rs370750118		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:133358952C>G	ENST00000450791.2	-	16	3578	c.3395G>C	c.(3394-3396)cGg>cCg	p.R1132P	GOLGA3_ENST00000456883.2_Missense_Mutation_p.R1132P|GOLGA3_ENST00000204726.3_Missense_Mutation_p.R1132P			Q08378	GOGA3_HUMAN	golgin A3	1132					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.R1132P(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTTGTGTTCCCGCAGAGCTGC	0.502																																							uc001ukz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(3394-3396)CGG>CCG		Golgi autoantigen, golgin subfamily a, 3							255.0	222.0	233.0					12																	133358952		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133358952C>G	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3395G>C	12.37:g.133358952C>G	ENSP00000410378:p.Arg1132Pro					GOLGA3_uc001ula.1_Missense_Mutation_p.R1132P	p.R1132P	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	17	3954	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1132			Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.3395G>C	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456891	0.84317	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	T;T;T	0.36157	1.27;1.27;1.27	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	T	0.50377	0.1612	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.51521	-0.8695	10	0.72032	D	0.01	.	20.4949	0.99206	0.0:1.0:0.0:0.0	.	1132;1132	Q08378-2;Q08378	.;GOGA3_HUMAN	P	1132	ENSP00000204726:R1132P;ENSP00000410378:R1132P;ENSP00000409303:R1132P	ENSP00000204726:R1132P	R	-	2	0	GOLGA3	131869025	1.000000	0.71417	0.999000	0.59377	0.635000	0.38103	5.908000	0.69916	2.848000	0.98002	0.655000	0.94253	CGG		0.502	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		5	216	0	0	0	3.59834e-05	0	5	216				
ATP8A2	51761	broad.mit.edu	37	13	26138096	26138096	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:26138096G>T	ENST00000381655.2	+	16	1542	c.1400G>T	c.(1399-1401)cGg>cTg	p.R467L	ATP8A2_ENST00000255283.8_Missense_Mutation_p.R427L	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	427					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R467L(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCTTACAGTCGGATGCCTCCT	0.413																																							uc001uqk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1399-1401)CGG>CTG		ATPase, aminophospholipid transporter-like,							110.0	99.0	102.0					13																	26138096		1858	4100	5958	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26138096G>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1400G>T	13.37:g.26138096G>T	ENSP00000371070:p.Arg467Leu					ATP8A2_uc010tdi.1_Missense_Mutation_p.R427L|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.R427L	p.R467L	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	16	1542	+		Breast(139;0.0201)|Lung SC(185;0.0225)	427			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.1400G>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532568	0.27387	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.63744	-0.06;-0.06	4.87	4.02	0.46733	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.385985	0.29715	N	0.011389	T	0.42653	0.1212	N	0.21324	0.655	0.48087	D	0.99958	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.44467	-0.9326	10	0.56958	D	0.05	.	4.8306	0.13437	0.2754:0.0:0.7246:0.0	.	427;427;427	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	L	467;427;247	ENSP00000371070:R467L;ENSP00000255283:R427L	ENSP00000255283:R427L	R	+	2	0	ATP8A2	25036096	1.000000	0.71417	0.959000	0.39883	0.097000	0.18754	2.658000	0.46733	2.703000	0.92315	0.650000	0.86243	CGG		0.413	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		6	93	1	0	8.12818e-05	8.12818e-05	0.00171015	6	93				
GPR12	2835	broad.mit.edu	37	13	27333871	27333871	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:27333871G>C	ENST00000381436.2	-	1	556	c.94C>G	c.(94-96)Cgg>Ggg	p.R32G	GPR12_ENST00000405846.3_Missense_Mutation_p.R32G			P47775	GPR12_HUMAN	G protein-coupled receptor 12	32					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.R32G(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		GCAGGAACCCGGGAGGAGACA	0.532																																							uc010aal.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(94-96)CGG>GGG		G protein-coupled receptor 12							56.0	61.0	59.0					13																	27333871		2203	4300	6503	SO:0001583	missense	2835					integral to plasma membrane		g.chr13:27333871G>C	U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.94C>G	13.37:g.27333871G>C	ENSP00000370844:p.Arg32Gly					GPR12_uc010tdl.1_Intron	p.R32G	NM_005288	NP_005279	P47775	GPR12_HUMAN		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	2	316	-	Colorectal(5;5.77e-05)	Breast(139;0.198)	32			Extracellular (Potential).		Q5T8P3	Missense_Mutation	SNP	ENST00000381436.2	37	c.94C>G	CCDS9319.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.237270	0.22711	.	.	ENSG00000132975	ENST00000405846;ENST00000381436	T;T	0.36699	1.24;1.24	5.13	5.13	0.70059	.	1.859090	0.03215	N	0.176634	T	0.28200	0.0696	N	0.08118	0	0.24129	N	0.995779	B	0.02656	0.0	B	0.01281	0.0	T	0.30416	-0.9979	10	0.18276	T	0.48	.	18.5796	0.91166	0.0:0.0:1.0:0.0	.	32	P47775	GPR12_HUMAN	G	32	ENSP00000384932:R32G;ENSP00000370844:R32G	ENSP00000370844:R32G	R	-	1	2	GPR12	26231871	1.000000	0.71417	0.911000	0.35937	0.460000	0.32559	1.719000	0.38011	2.406000	0.81754	0.462000	0.41574	CGG		0.532	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			4	82	0	0	0	1.23904e-05	0	4	82				
FLT3	2322	broad.mit.edu	37	13	28623785	28623785	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:28623785T>G	ENST00000241453.7	-	7	950	c.869A>C	c.(868-870)aAa>aCa	p.K290T	FLT3_ENST00000537084.1_Missense_Mutation_p.K290T|FLT3_ENST00000380982.4_Missense_Mutation_p.K290T	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	290	Ig-like C2-type.				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.K290T(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)	CTCGAGTGCTTTGTTTTCTAA	0.373			"""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.(868-870)AAA>ACA		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						138.0	129.0	132.0					13																	28623785		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.chr13:28623785T>G	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.869A>C	13.37:g.28623785T>G	ENSP00000241453:p.Lys290Thr					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.K290T	p.K290T	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)	7	951	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	290			Extracellular (Potential).|Ig-like C2-type.		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.869A>C	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	T	7.699	0.692599	0.15039	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.24350	1.86;1.86;1.86	5.52	0.243	0.15503	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.310752	0.31734	N	0.007147	T	0.12518	0.0304	N	0.12182	0.205	0.20196	N	0.999929	B;B	0.15930	0.015;0.008	B;B	0.15870	0.014;0.014	T	0.25152	-1.0140	10	0.29301	T	0.29	.	10.4449	0.44488	0.0:0.3441:0.0:0.6559	.	290;290	P36888-2;P36888	.;FLT3_HUMAN	T	290	ENSP00000241453:K290T;ENSP00000370369:K290T;ENSP00000438139:K290T	ENSP00000241453:K290T	K	-	2	0	FLT3	27521785	0.718000	0.27976	0.004000	0.12327	0.372000	0.29890	0.513000	0.22770	0.121000	0.18284	0.459000	0.35465	AAA		0.373	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			49	92	0	0	0	0.000147903	0	49	92				
RXFP2	122042	broad.mit.edu	37	13	32376489	32376489	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:32376489G>T	ENST00000298386.2	+	18	2283	c.2212G>T	c.(2212-2214)Ggg>Tgg	p.G738W	RXFP2_ENST00000380314.1_Missense_Mutation_p.G714W	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	738					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CCTGAAACTTGGGGTTTTGAA	0.373																																							uc001utt.2		NA																	0					0						c.(2212-2214)GGG>TGG		relaxin/insulin-like family peptide receptor 2							181.0	197.0	192.0					13																	32376489		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32376489G>T	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.2212G>T	13.37:g.32376489G>T	ENSP00000298386:p.Gly738Trp					RXFP2_uc010aba.2_Missense_Mutation_p.G697W	p.G738W	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	18	2283	+		Lung SC(185;0.0262)	738			Cytoplasmic (Potential).		B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.2212G>T	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274973	0.59649	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.72835	-0.69;-0.61	5.78	4.91	0.64330	.	0.159021	0.42964	D	0.000630	T	0.81833	0.4906	M	0.63428	1.95	0.41008	D	0.984983	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.83979	0.0331	10	0.62326	D	0.03	.	14.681	0.69017	0.0:0.0:0.8538:0.1462	.	714;738	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	W	714;738	ENSP00000369670:G714W;ENSP00000298386:G738W	ENSP00000298386:G738W	G	+	1	0	RXFP2	31274489	1.000000	0.71417	0.997000	0.53966	0.785000	0.44390	3.486000	0.53215	1.398000	0.46701	0.655000	0.94253	GGG		0.373	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		13	416	1	0	7.07596e-05	7.07596e-05	0.00149793	13	416				
FRY	10129	broad.mit.edu	37	13	32721512	32721512	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:32721512G>T	ENST00000380250.3	+	12	1769	c.1273G>T	c.(1273-1275)Gct>Tct	p.A425S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	425						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A425S(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAGCAACACAGCTACTCAGAG	0.398																																							uc001utx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(1273-1275)GCT>TCT		furry homolog							82.0	78.0	79.0					13																	32721512		1880	4113	5993	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32721512G>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.1273G>T	13.37:g.32721512G>T	ENSP00000369600:p.Ala425Ser					FRY_uc010tdw.1_RNA	p.A425S	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	12	1769	+		Lung SC(185;0.0271)	425					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.1273G>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294143	0.60086	.	.	ENSG00000073910	ENST00000380250;ENST00000267067	T	0.23552	1.9	5.35	5.35	0.76521	.	0.052119	0.85682	D	0.000000	T	0.34745	0.0908	M	0.81802	2.56	0.80722	D	1	B	0.12630	0.006	B	0.19666	0.026	T	0.22208	-1.0223	10	0.87932	D	0	.	13.7107	0.62667	0.0739:0.0:0.926:0.0	.	425	Q5TBA9	FRY_HUMAN	S	425;353	ENSP00000369600:A425S	ENSP00000267067:A353S	A	+	1	0	FRY	31619512	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.840000	0.75369	2.677000	0.91161	0.561000	0.74099	GCT		0.398	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		10	21	1	0	7.48243e-07	0.000442599	1.66062e-05	10	21				
DCLK1	9201	broad.mit.edu	37	13	36445427	36445427	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:36445427G>C	ENST00000360631.3	-	5	1085	c.874C>G	c.(874-876)Cgc>Ggc	p.R292G	DCLK1_ENST00000379892.4_Missense_Mutation_p.R292G|DCLK1_ENST00000255448.4_Missense_Mutation_p.R292G			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	292	Pro/Ser-rich.		R -> H (in dbSNP:rs56185003). {ECO:0000269|PubMed:17344846}.		axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GTGCTCCTGCGGGATGATGAA	0.507																																							uc001uvf.2		NA																	0				stomach(6)|ovary(2)|skin(1)	9						c.(874-876)CGC>GGC		doublecortin-like kinase 1							247.0	237.0	240.0					13																	36445427		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36445427G>C	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.874C>G	13.37:g.36445427G>C	ENSP00000353846:p.Arg292Gly					uc001uvi.1_Intron	p.R292G	NM_004734	NP_004725	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	5	1107	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	292			Pro/Ser-rich.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.874C>G		.	.	.	.	.	.	.	.	.	.	G	15.34	2.803398	0.50315	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.69040	-0.37;-0.35;1.78	5.28	5.28	0.74379	.	0.265538	0.37261	N	0.002163	T	0.52386	0.1731	N	0.12471	0.22	0.53688	D	0.999977	B	0.06786	0.001	B	0.09377	0.004	T	0.46289	-0.9202	10	0.44086	T	0.13	.	19.2736	0.94021	0.0:0.0:1.0:0.0	.	292	O15075-2	.	G	292	ENSP00000255448:R292G;ENSP00000353846:R292G;ENSP00000369222:R292G	ENSP00000255448:R292G	R	-	1	0	DCLK1	35343427	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	5.031000	0.64134	2.617000	0.88574	0.655000	0.94253	CGC		0.507	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		6	192	0	0	0	8.12818e-05	0	6	192				
POSTN	10631	broad.mit.edu	37	13	38153365	38153365	+	Splice_Site	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:38153365C>G	ENST00000379747.4	-	13	1909		c.e13+1		POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000541481.1_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000379742.4_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.?(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AGACAACTTACTTCTTTCAGA	0.318																																							uc001uwo.3		NA																	1	Unknown(1)		lung(1)	ovary(2)	2						c.e13+1		periostin, osteoblast specific factor isoform 1							82.0	75.0	78.0					13																	38153365		2203	4299	6502	SO:0001630	splice_region_variant	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38153365C>G	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1791+1G>C	13.37:g.38153365C>G						POSTN_uc010tet.1_Splice_Site_p.E125_splice|POSTN_uc001uwp.3_Splice_Site_p.E597_splice|POSTN_uc001uwr.2_Splice_Site_p.E597_splice|POSTN_uc001uwq.2_Splice_Site_p.E597_splice|POSTN_uc010teu.1_Splice_Site_p.E597_splice|POSTN_uc010tev.1_Splice_Site_p.E597_splice|POSTN_uc010tew.1_Splice_Site_p.E597_splice	p.E597_splice	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	13	1909	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)						B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Splice_Site	SNP	ENST00000379747.4	37	c.1791_splice	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693011	0.68271	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	.	.	.	5.87	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8769	0.70501	0.0:0.9313:0.0:0.0687	.	.	.	.	.	-1	.	.	.	-	.	.	POSTN	37051365	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.043000	0.76572	1.482000	0.48325	0.591000	0.81541	.		0.318	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475	Intron	43	44	0	0	0	0.000125731	0	43	44				
ZC3H13	23091	broad.mit.edu	37	13	46559733	46559733	+	Silent	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:46559733G>T	ENST00000242848.4	-	10	1767	c.1419C>A	c.(1417-1419)tcC>tcA	p.S473S	ZC3H13_ENST00000282007.3_Silent_p.S473S			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	473	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GCATGTCTCTGGAGTCTCTTA	0.517																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1		NA																	0				ovary(1)|lung(1)	2						c.(1417-1419)TCC>TCA		zinc finger CCCH-type containing 13							200.0	195.0	197.0					13																	46559733		2203	4300	6503	SO:0001819	synonymous_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46559733G>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1419C>A	13.37:g.46559733G>T						ZC3H13_uc001vas.1_Silent_p.S473S|ZC3H13_uc001vat.1_Silent_p.S473S	p.S473S	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	9	1425	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	473			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Silent	SNP	ENST00000242848.4	37	c.1419C>A																																																																																					0.517	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		8	179	1	0	0.000157383	0.000157383	0.00327129	8	179				
LRCH1	23143	broad.mit.edu	37	13	47315857	47315859	+	Missense_Mutation	TNP	CGG	CGG	ATT	rs377319675		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CGG	CGG	-	-	CGG	CGG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:47315857_47315859CGG>ATT	ENST00000389798.3	+	19	2258_2260	c.2061_2063CGG>ATT	c.(2059-2064)ctCGGg>ctATTg	p.G688L	LRCH1_ENST00000311191.6_Intron|LRCH1_ENST00000389797.3_Missense_Mutation_p.G723L	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	688	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TGCTGGCACTCGGGGAGAAAGCC	0.512																																							uc001vbj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2059-2064)CTCGGG>CTATTG		leucine-rich repeats and calponin homology (CH)																																				SO:0001583	missense	23143							g.chr13:47315857_47315859CGG>ATT	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.2061_2063CGG>ATT	13.37:g.47315857CGG>ATT	ENSP00000374448:p.Gly688Leu					LRCH1_uc001vbk.2_Missense_Mutation_p.G723L|LRCH1_uc001vbl.3_Intron	p.G688L	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	19	2297_2299	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	688			CH.		B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	TNP	ENST00000389798.3	37	c.2061_2063CGG>ATT	CCDS31972.1																																																																																				0.512	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		10	401	0	0	0	6.4e-05	0	10	401				
ATP7B	540	broad.mit.edu	37	13	52548699	52548699	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:52548699C>G	ENST00000242839.4	-	2	813	c.657G>C	c.(655-657)ctG>ctC	p.L219L	ATP7B_ENST00000542656.1_Silent_p.L187L|ATP7B_ENST00000400370.3_Silent_p.L219L|ATP7B_ENST00000418097.2_Silent_p.L219L|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000344297.5_Silent_p.L219L|ATP7B_ENST00000448424.2_Silent_p.L219L|ATP7B_ENST00000400366.3_Silent_p.L219L	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	219					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.L219L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CAATTGGTCCCAGGCTTAAGG	0.448									Wilson disease																														uc001vfw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(655-657)CTG>CTC		ATPase, Cu++ transporting, beta polypeptide							115.0	115.0	115.0					13																	52548699		1921	4142	6063	SO:0001819	synonymous_variant	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52548699C>G	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.657G>C	13.37:g.52548699C>G						ATP7B_uc010adv.2_Silent_p.L219L|ATP7B_uc001vfx.2_Silent_p.L219L|ATP7B_uc001vfy.2_Silent_p.L219L|ATP7B_uc010tgt.1_Silent_p.L219L|ATP7B_uc010tgu.1_Silent_p.L219L|ATP7B_uc010tgv.1_Silent_p.L219L|ATP7B_uc010tgw.1_Silent_p.L187L	p.L219L	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	2	814	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	219			Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.657G>C	CCDS41892.1																																																																																				0.448	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		6	219	0	0	0	3.59834e-05	0	6	219				
NEK5	341676	broad.mit.edu	37	13	52676385	52676385	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:52676385T>A	ENST00000355568.4	-	10	792	c.653A>T	c.(652-654)cAa>cTa	p.Q218L		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	218	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.Q218L(1)|p.Q275L(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AAAATGTGCTTGACAAATCTT	0.408																																							uc001vge.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(652-654)CAA>CTA		NIMA-related kinase 5							137.0	155.0	149.0					13																	52676385		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52676385T>A	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.653A>T	13.37:g.52676385T>A	ENSP00000347767:p.Gln218Leu					NEK5_uc001vgf.2_Missense_Mutation_p.Q218L	p.Q218L	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	10	793	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	218			Protein kinase.		Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.653A>T	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.728364	0.30593	.	.	ENSG00000197168	ENST00000355568	T	0.65732	-0.17	5.82	0.41	0.16387	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.201855	0.33346	N	0.005016	T	0.53594	0.1806	L	0.45698	1.435	0.36348	D	0.859922	P	0.44521	0.837	P	0.47299	0.543	T	0.56673	-0.7940	10	0.72032	D	0.01	.	3.3427	0.07124	0.2806:0.2974:0.0:0.422	.	218	Q6P3R8	NEK5_HUMAN	L	218	ENSP00000347767:Q218L	ENSP00000347767:Q218L	Q	-	2	0	NEK5	51574386	1.000000	0.71417	0.954000	0.39281	0.071000	0.16799	1.369000	0.34227	0.110000	0.17919	-0.502000	0.04539	CAA		0.408	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		85	159	0	0	0	0.000147903	0	85	159				
VPS36	51028	broad.mit.edu	37	13	53008930	53008931	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:53008930_53008931GG>TT	ENST00000378060.4	-	5	465_466	c.438_439CC>AA	c.(436-441)ccCCag>ccAAag	p.Q147K	VPS36_ENST00000480923.1_5'Flank	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	147					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)	p.Q147K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		AAAAATACCTGGGGTCCTCTAT	0.351																																							uc001vgs.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(436-441)CCCCAG>CCAAAG		vacuolar protein sorting 36																																				SO:0001583	missense	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:53008930_53008931GG>TT	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.438_439delinsTT	13.37:g.53008930_53008931delinsTT	ENSP00000367299:p.Gln147Lys					VPS36_uc001vgq.2_Missense_Mutation_p.Q89K	p.Q147K	NM_016075	NP_057159	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	5	472_473	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	147					A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Missense_Mutation	DNP	ENST00000378060.4	37	c.438_439CC>AA	CCDS9434.1																																																																																				0.351	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			10	331	0	0	0	6.4e-05	0	10	331				
KLHL1	57626	broad.mit.edu	37	13	70314593	70314593	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:70314593G>T	ENST00000377844.4	-	8	2494	c.1735C>A	c.(1735-1737)Caa>Aaa	p.Q579K	KLHL1_ENST00000545028.1_Missense_Mutation_p.Q386K	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	579					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.Q579K(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)		AATGTCCATTGTTGACTCTGT	0.408																																							uc001vip.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1735-1737)CAA>AAA		kelch-like 1 protein							101.0	89.0	93.0					13																	70314593		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70314593G>T	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.1735C>A	13.37:g.70314593G>T	ENSP00000367075:p.Gln579Lys					KLHL1_uc010thm.1_Missense_Mutation_p.Q518K	p.Q579K	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	8	2529	-		Breast(118;0.000162)	579			Kelch 3.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1735C>A	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569477	0.45798	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.76186	-1.0;-1.0	4.81	4.81	0.61882	Galactose oxidase, beta-propeller (1);	0.000000	0.53938	D	0.000045	T	0.75547	0.3864	N	0.20357	0.565	0.49798	D	0.999823	D;P	0.60160	0.987;0.616	D;B	0.68765	0.96;0.444	T	0.70861	-0.4757	10	0.14656	T	0.56	.	18.222	0.89904	0.0:0.0:1.0:0.0	.	579;579	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	K	579;386	ENSP00000367075:Q579K;ENSP00000439602:Q386K	ENSP00000367075:Q579K	Q	-	1	0	KLHL1	69212594	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.710000	0.98732	2.388000	0.81334	0.491000	0.48974	CAA		0.408	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		28	39	1	0	1.26454e-06	0.000117367	2.79295e-05	28	39				
SLITRK6	84189	broad.mit.edu	37	13	86368421	86368421	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:86368421G>T	ENST00000400286.2	-	2	2821	c.2223C>A	c.(2221-2223)aaC>aaA	p.N741K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	741					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.N741K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTGTTGATTGGTTCGTGGTTT	0.373																																							uc001vll.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(2221-2223)AAC>AAA		slit and trk like 6 precursor							250.0	242.0	245.0					13																	86368421		1864	4097	5961	SO:0001583	missense	84189					integral to membrane		g.chr13:86368421G>T	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.2223C>A	13.37:g.86368421G>T	ENSP00000383143:p.Asn741Lys					SLITRK6_uc010afe.1_Missense_Mutation_p.N194K	p.N741K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	2682	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		741			Cytoplasmic (Potential).		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.2223C>A	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	6.590	0.477233	0.12521	.	.	ENSG00000184564	ENST00000400286	T	0.55413	0.52	5.84	3.88	0.44766	.	0.165805	0.38837	U	0.001560	T	0.29223	0.0727	N	0.08118	0	0.30255	N	0.79372	B	0.12013	0.005	B	0.09377	0.004	T	0.17289	-1.0374	10	0.51188	T	0.08	-7.2192	7.4132	0.27029	0.2661:0.0:0.7339:0.0	.	741	Q9H5Y7	SLIK6_HUMAN	K	741	ENSP00000383143:N741K	ENSP00000383143:N741K	N	-	3	2	SLITRK6	85266422	0.999000	0.42202	0.994000	0.49952	0.586000	0.36452	0.593000	0.23999	1.480000	0.48289	-0.136000	0.14681	AAC		0.373	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		174	282	1	0	9.06622e-77	0.000147903	2.4318e-75	174	282				
OXGR1	27199	broad.mit.edu	37	13	97639335	97639335	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:97639335G>C	ENST00000298440.1	-	4	922	c.679C>G	c.(679-681)Cat>Gat	p.H227D	OXGR1_ENST00000543457.1_Missense_Mutation_p.H227D	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	227					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.H227D(1)		NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TGCAGTCCATGGGTCAGAGTG	0.428																																							uc001vmx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(679-681)CAT>GAT		oxoglutarate (alpha-ketoglutarate) receptor 1							176.0	167.0	170.0					13																	97639335		2203	4300	6503	SO:0001583	missense	27199					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr13:97639335G>C	AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.679C>G	13.37:g.97639335G>C	ENSP00000298440:p.His227Asp					OXGR1_uc010afr.1_Missense_Mutation_p.H227D	p.H227D	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.186)		4	923	-	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		227			Cytoplasmic (Potential).		Q5T5A7|Q86TL1	Missense_Mutation	SNP	ENST00000298440.1	37	c.679C>G	CCDS9482.1	.	.	.	.	.	.	.	.	.	.	G	0.738	-0.777462	0.02929	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.37411	1.2;1.2	5.83	5.83	0.93111	GPCR, rhodopsin-like superfamily (1);	0.465830	0.23100	N	0.051922	T	0.26846	0.0657	N	0.20986	0.625	0.21256	N	0.999747	B	0.15473	0.013	B	0.18561	0.022	T	0.11012	-1.0605	10	0.38643	T	0.18	.	13.2753	0.60184	0.0:0.0:0.8039:0.1961	.	227	Q96P68	OXGR1_HUMAN	D	227	ENSP00000298440:H227D;ENSP00000438800:H227D	ENSP00000298440:H227D	H	-	1	0	OXGR1	96437336	0.841000	0.29509	0.407000	0.26434	0.022000	0.10575	4.446000	0.60014	2.937000	0.99478	0.650000	0.86243	CAT		0.428	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045521.3	NM_080818		5	69	0	0	0	1.23904e-05	0	5	69				
IRS2	8660	broad.mit.edu	37	13	110437749	110437749	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr13:110437749G>C	ENST00000375856.3	-	1	1166	c.652C>G	c.(652-654)Cgt>Ggt	p.R218G		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	218	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.R218G(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			AGGCACAGACGGTACACCCCC	0.667																																					Melanoma(100;613 2409 40847)	Melanoma(100;613 2409 40847)	uc001vqv.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|skin(1)|ovary(1)|kidney(1)	8						c.(652-654)CGT>GGT		insulin receptor substrate 2							15.0	17.0	16.0					13																	110437749		2171	4245	6416	SO:0001583	missense	8660				fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity	g.chr13:110437749G>C	AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.652C>G	13.37:g.110437749G>C	ENSP00000365016:p.Arg218Gly						p.R218G	NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)		1	1166	-	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	218			IRS-type PTB.		Q96RR2|Q9BZG0|Q9Y6I5	Missense_Mutation	SNP	ENST00000375856.3	37	c.652C>G	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.197521	0.38806	.	.	ENSG00000185950	ENST00000375856	T	0.45668	0.89	3.93	3.93	0.45458	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (4);	0.000000	0.64402	U	0.000001	T	0.67382	0.2887	M	0.85542	2.76	0.41532	D	0.988469	D	0.89917	1.0	D	0.91635	0.999	T	0.75470	-0.3306	10	0.87932	D	0	-10.1739	14.8821	0.70542	0.0:0.0:1.0:0.0	.	218	Q9Y4H2	IRS2_HUMAN	G	218	ENSP00000365016:R218G	ENSP00000365016:R218G	R	-	1	0	IRS2	109235750	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.956000	0.29202	2.049000	0.60858	0.498000	0.49722	CGT		0.667	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045755.1	NM_003749		3	21	0	0	0	6.4e-05	0	3	21				
OR4K2	390431	broad.mit.edu	37	14	20344567	20344567	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr14:20344567C>A	ENST00000298642.2	+	1	177	c.141C>A	c.(139-141)atC>atA	p.I47I		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I47I(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCATAGTCATCACAGTTATAG	0.423																																							uc001vwh.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(139-141)ATC>ATA		olfactory receptor, family 4, subfamily K,							387.0	378.0	381.0					14																	20344567		2203	4300	6503	SO:0001819	synonymous_variant	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344567C>A		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.141C>A	14.37:g.20344567C>A							p.I47I	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	141	+	all_cancers(95;0.00108)		47			Helical; Name=1; (Potential).		B2RNK8|Q6IFA5	Silent	SNP	ENST00000298642.2	37	c.141C>A	CCDS32023.1																																																																																				0.423	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			107	183	1	0	5.4258e-56	0.000147903	1.44408e-54	107	183				
SLC39A2	29986	broad.mit.edu	37	14	21467712	21467712	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr14:21467712C>A	ENST00000298681.4	+	1	264	c.107C>A	c.(106-108)gCa>gAa	p.A36E	SLC39A2_ENST00000554422.1_Missense_Mutation_p.A36E|RP11-84C10.4_ENST00000557335.1_RNA	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	36					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.A36E(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		CAGATTGATGCAGCCAGAGGT	0.507																																							uc001vyr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(106-108)GCA>GAA		solute carrier family 39 (zinc transporter),							161.0	121.0	135.0					14																	21467712		2203	4300	6503	SO:0001583	missense	29986					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity	g.chr14:21467712C>A	AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"""Solute carriers"""	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.107C>A	14.37:g.21467712C>A	ENSP00000298681:p.Ala36Glu					SLC39A2_uc001vys.2_5'UTR	p.A36E	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)	1	294	+	all_cancers(95;0.00267)		36			Cytoplasmic (Potential).		B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	ENST00000298681.4	37	c.107C>A	CCDS9563.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.457950	0.01071	.	.	ENSG00000165794	ENST00000554422;ENST00000298681	T;T	0.30182	1.54;3.1	5.16	3.33	0.38152	.	0.990179	0.08226	N	0.978330	T	0.20700	0.0498	L	0.49350	1.555	0.29547	N	0.851653	P	0.39717	0.684	B	0.35182	0.197	T	0.17107	-1.0380	10	0.02654	T	1	-2.1808	3.9613	0.09412	0.1674:0.5841:0.1618:0.0867	.	36	Q9NP94	S39A2_HUMAN	E	36	ENSP00000452568:A36E;ENSP00000298681:A36E	ENSP00000298681:A36E	A	+	2	0	SLC39A2	20537552	0.018000	0.18449	0.808000	0.32385	0.014000	0.08584	0.171000	0.16685	0.744000	0.32741	-0.140000	0.14226	GCA		0.507	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579		28	17	1	0	4.43304e-23	0.000147802	1.11719e-21	28	17				
HECTD1	25831	broad.mit.edu	37	14	31604225	31604225	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr14:31604225C>G	ENST00000399332.1	-	22	3919	c.3431G>C	c.(3430-3432)tGg>tCg	p.W1144S	HECTD1_ENST00000553700.1_Missense_Mutation_p.W1144S	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1144					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.W1144S(1)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGGTATCACCCAGAGACCCAG	0.428																																							uc001wrc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|lung(1)	5						c.(3430-3432)TGG>TCG		HECT domain containing 1							190.0	169.0	176.0					14																	31604225		1945	4137	6082	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31604225C>G	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.3431G>C	14.37:g.31604225C>G	ENSP00000382269:p.Trp1144Ser					HECTD1_uc001wrd.1_Missense_Mutation_p.W659S	p.W1144S	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	22	3920	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1144					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.3431G>C	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800739	0.70567	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.25912	1.77;1.77;1.77	5.91	5.91	0.95273	Galactose-binding domain-like (1);Sad1/UNC-like, C-terminal (1);	0.000000	0.64402	U	0.000001	T	0.40094	0.1103	N	0.19112	0.55	0.80722	D	1	P;D	0.67145	0.939;0.996	P;D	0.79108	0.557;0.992	T	0.31420	-0.9944	10	0.72032	D	0.01	-4.385	20.2983	0.98569	0.0:1.0:0.0:0.0	.	1144;1144	D3DS86;Q9ULT8	.;HECD1_HUMAN	S	1144;1146;1144;618	ENSP00000450697:W1144S;ENSP00000382269:W1144S;ENSP00000451860:W618S	ENSP00000261312:W1146S	W	-	2	0	HECTD1	30673976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.800000	0.85949	2.802000	0.96397	0.655000	0.94253	TGG		0.428	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			5	98	0	0	0	3.59834e-05	0	5	98				
GPHN	10243	broad.mit.edu	37	14	67589024	67589024	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr14:67589024C>T	ENST00000315266.5	+	16	2700	c.1579C>T	c.(1579-1581)Cgt>Tgt	p.R527C	GPHN_ENST00000478722.1_Missense_Mutation_p.R560C|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.R496C|GPHN_ENST00000543237.1_Missense_Mutation_p.R573C	NM_001024218.1	NP_001019389.1	Q9NQX3	GEPH_HUMAN	gephyrin	527	MPT adenylyltransferase.				establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycine receptor clustering (GO:0072579)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|molybdopterin adenylyltransferase activity (GO:0061598)|molybdopterin molybdotransferase activity (GO:0061599)|transferase activity (GO:0016740)	p.R560C(1)		large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AGACAGCAATCGTTCAACTCT	0.388			T	MLL	AL																																		uc001xiy.2		NA		Dom	yes		14	14q24	10243	T	gephyrin (GPH)			L	MLL		AL		1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1579-1581)CGT>TGT		gephyrin isoform 2							127.0	114.0	118.0					14																	67589024		2203	4300	6503	SO:0001583	missense	10243				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity	g.chr14:67589024C>T	AB037806	CCDS9777.1, CCDS32103.1	14q23.3	2008-04-22			ENSG00000171723	ENSG00000171723			15465	protein-coding gene	gene with protein product		603930				1319186, 10325225, 18403029	Standard	XM_005267250		Approved	KIAA1385	uc001xix.3	Q9NQX3	OTTHUMG00000029785	ENST00000315266.5:c.1579C>T	14.37:g.67589024C>T	ENSP00000312771:p.Arg527Cys					GPHN_uc001xix.2_Missense_Mutation_p.R560C|GPHN_uc010tss.1_Missense_Mutation_p.R573C|GPHN_uc010tst.1_Missense_Mutation_p.R496C|GPHN_uc010tsu.1_Missense_Mutation_p.R450C	p.R527C	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)	16	2700	+		all_cancers(7;0.0476)|all_hematologic(31;0.0116)	527			MPT adenylyltransferase.		Q9H4E9|Q9P2G2	Missense_Mutation	SNP	ENST00000315266.5	37	c.1579C>T	CCDS32103.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020852	0.93462	.	.	ENSG00000171723	ENST00000315266;ENST00000478722;ENST00000543237;ENST00000305960;ENST00000555503	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	6.17	5.28	0.74379	Molybdenum cofactor synthesis (1);Molybdopterin binding (4);	0.000000	0.85682	D	0.000000	D	0.91676	0.7369	H	0.96142	3.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.80764	0.963;0.994;0.978;0.986	D	0.93524	0.6864	10	0.87932	D	0	-7.1757	15.9972	0.80260	0.0:0.935:0.0:0.065	.	496;573;527;560	F8W7D6;F5H039;Q9NQX3;Q9NQX3-2	.;.;GEPH_HUMAN;.	C	527;560;573;496;52	ENSP00000312771:R527C;ENSP00000417901:R560C;ENSP00000438404:R573C;ENSP00000303019:R496C;ENSP00000452009:R52C	ENSP00000303019:R496C	R	+	1	0	GPHN	66658777	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.861000	0.62969	2.941000	0.99782	0.655000	0.94253	CGT		0.388	GPHN-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000074299.2	NM_020806		29	16	0	0	0	0.000339439	0	29	16				
SLC8A3	6547	broad.mit.edu	37	14	70633596	70633596	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr14:70633596G>T	ENST00000381269.2	-	2	2297	c.1544C>A	c.(1543-1545)tCc>tAc	p.S515Y	SLC8A3_ENST00000357887.3_Missense_Mutation_p.S515Y|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S515Y|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S515Y|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S515Y	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	515					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.S515Y(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CACACAAGGGGAGGCTAGGAC	0.498																																							uc001xly.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|breast(2)	7						c.(1543-1545)TCC>TAC		solute carrier family 8 (sodium/calcium							60.0	59.0	59.0					14																	70633596		2203	4300	6503	SO:0001583	missense	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70633596G>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1544C>A	14.37:g.70633596G>T	ENSP00000370669:p.Ser515Tyr					SLC8A3_uc001xlw.2_Missense_Mutation_p.S515Y|SLC8A3_uc001xlx.2_Missense_Mutation_p.S515Y|SLC8A3_uc001xlz.2_Missense_Mutation_p.S515Y|SLC8A3_uc010ara.2_RNA	p.S515Y	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	2	2298	-			515			Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	ENST00000381269.2	37	c.1544C>A	CCDS35498.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481130	0.26598	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22	5.69	5.69	0.88448	.	0.105878	0.64402	D	0.000003	T	0.43831	0.1265	N	0.08118	0	0.48762	D	0.999708	P;P;D;D	0.76494	0.915;0.863;0.999;0.999	P;B;D;D	0.83275	0.457;0.269;0.996;0.996	T	0.55444	-0.8140	10	0.62326	D	0.03	.	19.8067	0.96534	0.0:0.0:1.0:0.0	.	515;515;515;515	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	Y	515	ENSP00000349392:S515Y;ENSP00000370669:S515Y;ENSP00000350560:S515Y;ENSP00000436688:S515Y;ENSP00000433531:S515Y	ENSP00000349392:S515Y	S	-	2	0	SLC8A3	69703349	1.000000	0.71417	0.949000	0.38748	0.988000	0.76386	6.365000	0.73090	2.672000	0.90937	0.650000	0.86243	TCC		0.498	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1			21	13	1	0	1.96292e-10	0.000175454	4.49415e-09	21	13				
EIF2B2	8892	broad.mit.edu	37	14	75475847	75475847	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr14:75475847C>G	ENST00000266126.5	+	8	1092	c.1012C>G	c.(1012-1014)Cgc>Ggc	p.R338G	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	338					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CTACATCTACCGCCTGATGAG	0.483																																							uc001xrc.1		NA																	0				ovary(1)	1						c.(1012-1014)CGC>GGC		eukaryotic translation initiation factor 2B,							350.0	285.0	307.0					14																	75475847		2203	4300	6503	SO:0001583	missense	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75475847C>G		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.1012C>G	14.37:g.75475847C>G	ENSP00000266126:p.Arg338Gly						p.R338G	NM_014239	NP_055054	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	8	1094	+			338					O43201	Missense_Mutation	SNP	ENST00000266126.5	37	c.1012C>G	CCDS9836.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142058	0.94560	.	.	ENSG00000119718	ENST00000266126	D	0.96104	-3.91	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.98632	0.9542	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.99226	1.0880	10	0.87932	D	0	-17.666	19.9894	0.97361	0.0:1.0:0.0:0.0	.	338	P49770	EI2BB_HUMAN	G	338	ENSP00000266126:R338G	ENSP00000266126:R338G	R	+	1	0	EIF2B2	74545600	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.825000	0.62708	2.730000	0.93505	0.655000	0.94253	CGC		0.483	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		5	142	0	0	0	1.23904e-05	0	5	142				
NDN	4692	broad.mit.edu	37	15	23931903	23931903	+	Silent	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:23931903G>A	ENST00000331837.4	-	1	547	c.462C>T	c.(460-462)caC>caT	p.H154H		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	154	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H154H(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TTAGCCTCAGGTGCAGCCCGA	0.617									Prader-Willi syndrome																														uc001ywk.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(460-462)CAC>CAT		necdin							36.0	38.0	37.0					15																	23931903		2203	4300	6503	SO:0001819	synonymous_variant	4692	Prader-Willsyndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931903G>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.462C>T	15.37:g.23931903G>A							p.H154H	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	548	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	154			MAGE.		B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.462C>T	CCDS10014.1																																																																																				0.617	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		27	30	0	0	0	9.22233e-05	0	27	30				
NPAP1	23742	broad.mit.edu	37	15	24921131	24921131	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:24921131C>A	ENST00000329468.2	+	1	591	c.117C>A	c.(115-117)caC>caA	p.H39Q		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	39					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.H39Q(1)									GTCGGGCTCACTCTGTACCCA	0.736																																							uc001ywo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(115-117)CAC>CAA		hypothetical protein LOC23742							10.0	12.0	11.0					15																	24921131		2116	4145	6261	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921131C>A	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.117C>A	15.37:g.24921131C>A	ENSP00000333735:p.His39Gln						p.H39Q	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	591	+		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)	39						Missense_Mutation	SNP	ENST00000329468.2	37	c.117C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	11.78	1.740230	0.30865	.	.	ENSG00000185823	ENST00000329468	T	0.10763	2.84	2.12	-2.32	0.06745	.	0.606022	0.12835	N	0.435267	T	0.04679	0.0127	N	0.19112	0.55	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.41574	-0.9501	10	0.19147	T	0.46	.	2.5432	0.04730	0.2243:0.4047:0.0:0.3709	.	39	Q9NZP6	CO002_HUMAN	Q	39	ENSP00000333735:H39Q	ENSP00000333735:H39Q	H	+	3	2	C15orf2	22472224	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.653000	0.24902	-0.593000	0.05844	-0.516000	0.04426	CAC		0.736	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		12	19	1	0	1.61879e-10	0.00010058	3.71863e-09	12	19				
FMN1	342184	broad.mit.edu	37	15	33191088	33191088	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:33191088C>G	ENST00000559047.1	-	12	3660	c.3661G>C	c.(3661-3663)Ggg>Cgg	p.G1221R	FMN1_ENST00000334528.9_Missense_Mutation_p.G998R|FMN1_ENST00000561249.1_Missense_Mutation_p.G1123R			Q68DA7	FMN1_HUMAN	formin 1	1221	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G998R(1)|p.G1221R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AGATTAATCCCATTATCCTAG	0.358																																							uc001zhf.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2992-2994)GGG>CGG		formin 1							122.0	114.0	117.0					15																	33191088		1874	4108	5982	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33191088C>G	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.3661G>C	15.37:g.33191088C>G	ENSP00000454047:p.Gly1221Arg						p.G998R	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	11	2992	-		all_lung(180;1.14e-07)	1221			FH2.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.2992G>C		.	.	.	.	.	.	.	.	.	.	C	10.06	1.247777	0.22880	.	.	ENSG00000248905	ENST00000334528	T	0.16196	2.36	5.87	5.87	0.94306	.	0.384323	0.30269	N	0.010015	T	0.08537	0.0212	N	0.08118	0	.	.	.	B	0.24882	0.113	B	0.23574	0.047	T	0.28106	-1.0054	9	0.18276	T	0.48	.	10.0728	0.42343	0.0:0.7889:0.1385:0.0726	.	998	Q68DA7-5	.	R	998	ENSP00000333950:G998R	ENSP00000333950:G998R	G	-	1	0	FMN1	30978380	0.997000	0.39634	0.989000	0.46669	0.763000	0.43281	2.076000	0.41548	2.941000	0.99782	0.655000	0.94253	GGG		0.358	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		5	122	0	0	0	3.59834e-05	0	5	122				
TMEM87A	25963	broad.mit.edu	37	15	42531877	42531878	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:42531877_42531878GG>TT	ENST00000389834.4	-	8	938_939	c.674_675CC>AA	c.(673-675)cCC>cAA	p.P225Q	TMEM87A_ENST00000448392.1_Missense_Mutation_p.P164Q	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	225						integral component of membrane (GO:0016021)		p.P225Q(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		CAATCATCAAGGGATAGTCTTC	0.356																																							uc010udd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(673-675)CCC>CAA		transmembrane protein 87A isoform 1																																				SO:0001583	missense	25963					integral to membrane		g.chr15:42531877_42531878GG>TT	AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.674_675delinsTT	15.37:g.42531877_42531878delinsTT	ENSP00000374484:p.Pro225Gln					TMEM87A_uc001zpf.3_Missense_Mutation_p.P164Q|TMEM87A_uc010bcu.1_Missense_Mutation_p.P164Q	p.P225Q	NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN		GBM - Glioblastoma multiforme(94;1.03e-06)	8	833_834	-		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	225					Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	DNP	ENST00000389834.4	37	c.674_675CC>AA	CCDS32205.1																																																																																				0.356	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497		10	219	0	0	0	6.4e-05	0	10	219				
PDIA3	2923	broad.mit.edu	37	15	44061820	44061820	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:44061820C>G	ENST00000300289.5	+	10	1390	c.1242C>G	c.(1240-1242)ccC>ccG	p.P414P	PDIA3_ENST00000538521.1_Silent_p.P394P	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	414	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)	p.P414P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		ACCTGGAGCCCAAGTATAAAG	0.388																																							uc001zsu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1240-1242)CCC>CCG		protein disulfide-isomerase A3 precursor							110.0	109.0	109.0					15																	44061820		2198	4298	6496	SO:0001819	synonymous_variant	2923				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr15:44061820C>G		CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444	ENST00000300289.5:c.1242C>G	15.37:g.44061820C>G						PDIA3_uc010bdp.2_Silent_p.P394P|PDIA3_uc010ued.1_Silent_p.P188P	p.P414P	NM_005313	NP_005304	P30101	PDIA3_HUMAN		GBM - Glioblastoma multiforme(94;9.48e-07)	10	1390	+		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	414			Thioredoxin 2.		Q13453|Q14255|Q8IYF8|Q9UMU7	Silent	SNP	ENST00000300289.5	37	c.1242C>G	CCDS10101.1																																																																																				0.388	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103532.3	NM_005313		5	124	0	0	0	1.23904e-05	0	5	124				
DUOXA2	405753	broad.mit.edu	37	15	45408801	45408801	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:45408801C>A	ENST00000323030.5	+	4	713	c.428C>A	c.(427-429)gCg>gAg	p.A143E	DUOX2_ENST00000603300.1_5'Flank|DUOX2_ENST00000389039.6_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	143					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.A143E(1)					all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GCGGAGTACGCGAACGCACTG	0.607																																							uc001zuo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(427-429)GCG>GAG		dual oxidase activator 2							58.0	65.0	63.0					15																	45408801		2092	4235	6327	SO:0001583	missense	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45408801C>A	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.428C>A	15.37:g.45408801C>A	ENSP00000319705:p.Ala143Glu					DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA	p.A143E	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	4	708	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	143			Extracellular (Potential).		B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	c.428C>A	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.369045	0.01225	.	.	ENSG00000140274	ENST00000323030;ENST00000350243	T	0.52983	0.64	5.58	-6.48	0.01896	.	0.795541	0.12099	N	0.499715	T	0.18467	0.0443	N	0.25144	0.715	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.39292	-0.9621	10	0.02654	T	1	-2.0629	2.096	0.03668	0.511:0.1159:0.1914:0.1816	.	143	Q1HG44	DOXA2_HUMAN	E	143;98	ENSP00000319705:A143E	ENSP00000319705:A143E	A	+	2	0	DUOXA2	43196093	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.185000	0.09684	-0.751000	0.04734	-0.140000	0.14226	GCG		0.607	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		15	29	1	0	1.49906e-05	0.000219431	0.000324325	15	29				
VPS13C	54832	broad.mit.edu	37	15	62146670	62146671	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:62146670_62146671GG>TT	ENST00000261517.5	-	85	11320_11321	c.11247_11248CC>AA	c.(11245-11250)ccCCaa>ccAAaa	p.Q3750K	RP11-16B9.1_ENST00000559251.1_RNA|VPS13C_ENST00000249837.3_Missense_Mutation_p.Q3707K	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.Q3750K(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GATGGCAATTGGGGTCTGAGAA	0.421																																							uc002agz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(11245-11250)CCCCAA>CCAAAA		vacuolar protein sorting 13C protein isoform 2A																																				SO:0001583	missense	54832				protein localization			g.chr15:62146670_62146671GG>TT	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.11247_11248delinsTT	15.37:g.62146670_62146671delinsTT	ENSP00000261517:p.Gln3750Lys					VPS13C_uc002aha.2_Missense_Mutation_p.Q3707K	p.Q3750K	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			85	11321_11322	-			3750						Missense_Mutation	DNP	ENST00000261517.5	37	c.11247_11248CC>AA	CCDS32257.1																																																																																				0.421	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		12	255	0	0	0	6.4e-05	0	12	255				
PARP6	56965	broad.mit.edu	37	15	72549734	72549734	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:72549734C>G	ENST00000569795.1	-	13	1641	c.954G>C	c.(952-954)ctG>ctC	p.L318L	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Silent_p.L318L|PARP6_ENST00000287196.9_Silent_p.L318L			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	318							NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L318L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						ACATGACGCCCAGTGTGTAGA	0.522																																							uc002auc.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(952-954)CTG>CTC		poly (ADP-ribose) polymerase family, member 6							130.0	137.0	135.0					15																	72549734		2050	4200	6250	SO:0001819	synonymous_variant	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72549734C>G	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.954G>C	15.37:g.72549734C>G						PARP6_uc002aua.2_Silent_p.L163L|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Silent_p.L318L	p.L318L	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN			12	1413	-			318					Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Silent	SNP	ENST00000569795.1	37	c.954G>C	CCDS10241.2																																																																																				0.522	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		5	146	0	0	0	8.12818e-05	0	5	146				
SCAMP2	10066	broad.mit.edu	37	15	75137815	75137815	+	Splice_Site	SNP	C	C	G	rs548821463	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:75137815C>G	ENST00000268099.9	-	8	963	c.854G>C	c.(853-855)cGg>cCg	p.R285P	ULK3_ENST00000568667.1_5'Flank|ULK3_ENST00000440863.2_5'Flank|ULK3_ENST00000569437.1_5'Flank	NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	285					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)		p.R285P(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						ACCACTCACCCGCTGCAGGAG	0.562																																							uc002azb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(853-855)CGG>CCG		secretory carrier membrane protein 2							102.0	90.0	94.0					15																	75137815		2197	4295	6492	SO:0001630	splice_region_variant	10066				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding	g.chr15:75137815C>G	AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"""Secretory carrier membrane proteins"""	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.855+1G>C	15.37:g.75137815C>G						ULK3_uc010ulp.1_5'Flank|ULK3_uc010ulq.1_5'Flank|ULK3_uc010ulr.1_5'Flank|ULK3_uc010bkf.1_5'Flank|ULK3_uc002ayv.2_5'Flank|ULK3_uc010uls.1_5'Flank|ULK3_uc010ult.1_5'Flank|ULK3_uc010ulu.1_5'Flank|SCAMP2_uc002aza.1_Missense_Mutation_p.R135P|SCAMP2_uc010bkg.1_RNA	p.R285P	NM_005697	NP_005688	O15127	SCAM2_HUMAN			8	928	-			285			Cytoplasmic (Potential).		B2RDF0|Q9BQE8	Missense_Mutation	SNP	ENST00000268099.9	37	c.854G>C	CCDS10271.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.928265	0.73327	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.18960	2.18	4.91	4.91	0.64330	.	0.104828	0.64402	D	0.000011	T	0.42471	0.1204	M	0.78049	2.395	0.46113	D	0.998877	P;D	0.54207	0.931;0.965	P;P	0.61477	0.88;0.889	T	0.37502	-0.9703	10	0.66056	D	0.02	.	10.6674	0.45739	0.0:0.9016:0.0:0.0983	.	285;254	O15127;B3KU14	SCAM2_HUMAN;.	P	285;254	ENSP00000268099:R285P	ENSP00000268099:R285P	R	-	2	0	SCAMP2	72924868	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.184000	0.42575	2.273000	0.75805	0.585000	0.79938	CGG		0.562	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3	NM_005697	Missense_Mutation	4	69	0	0	0	1.23904e-05	0	4	69				
KIAA1024	23251	broad.mit.edu	37	15	79750551	79750551	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:79750551G>C	ENST00000305428.3	+	2	2137	c.2062G>C	c.(2062-2064)Ggg>Cgg	p.G688R		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	688						integral component of membrane (GO:0016021)		p.G688R(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGATGCTAGCGGGAGCAACAG	0.557																																							uc002bew.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|central_nervous_system(1)	4						c.(2062-2064)GGG>CGG		hypothetical protein LOC23251							157.0	155.0	156.0					15																	79750551		2196	4293	6489	SO:0001583	missense	23251					integral to membrane		g.chr15:79750551G>C	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2062G>C	15.37:g.79750551G>C	ENSP00000307461:p.Gly688Arg					KIAA1024_uc010unk.1_Missense_Mutation_p.G688R	p.G688R	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN			2	2137	+			688					A7MD43	Missense_Mutation	SNP	ENST00000305428.3	37	c.2062G>C	CCDS32306.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.741140	0.30865	.	.	ENSG00000169330	ENST00000305428	T	0.37915	1.17	5.59	4.67	0.58626	.	0.178123	0.52532	D	0.000067	T	0.51244	0.1663	M	0.65975	2.015	0.24941	N	0.991859	D	0.65815	0.995	P	0.60012	0.867	T	0.45818	-0.9235	9	.	.	.	.	10.4174	0.44329	0.1495:0.0:0.8505:0.0	.	688	Q9UPX6	K1024_HUMAN	R	688	ENSP00000307461:G688R	.	G	+	1	0	KIAA1024	77537606	1.000000	0.71417	0.252000	0.24328	0.345000	0.29048	5.331000	0.65905	1.356000	0.45884	0.591000	0.81541	GGG		0.557	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206		4	124	0	0	0	1.23904e-05	0	4	124				
HOMER2	9455	broad.mit.edu	37	15	83544130	83544130	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:83544130C>T	ENST00000304231.8	-	3	381	c.189G>A	c.(187-189)ccG>ccA	p.P63P	HOMER2_ENST00000450735.2_Silent_p.P63P|HOMER2_ENST00000399166.2_Silent_p.P63P|HOMER2_ENST00000426485.1_Silent_p.P63P	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	63	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				behavioral response to cocaine (GO:0048148)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|chemical homeostasis within a tissue (GO:0048875)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.P126P(1)|p.P63P(1)		cervix(1)|endometrium(2)|lung(6)	9						AGGTCATATTCGGTGTGATTG	0.438																																							uc002bjg.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(187-189)CCG>CCA		homer 2 isoform 2							97.0	96.0	96.0					15																	83544130		2138	4275	6413	SO:0001819	synonymous_variant	9455				metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane		g.chr15:83544130C>T	AF093264	CCDS45334.1, CCDS45336.1	15q24.3	2008-02-05				ENSG00000103942			17513	protein-coding gene	gene with protein product		604799				9808459, 9808458	Standard	NM_199330		Approved	CPD, Cupidin, Vesl-2, HOMER-2B, HOMER-2, HOMER-2A	uc002bjg.3	Q9NSB8		ENST00000304231.8:c.189G>A	15.37:g.83544130C>T						HOMER2_uc002bjh.2_Silent_p.P63P|HOMER2_uc002bjj.2_Silent_p.P63P|HOMER2_uc002bji.2_Silent_p.P63P	p.P63P	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN			3	375	-			63			WH1.		O95269|O95349|Q9NSB6|Q9NSB7|Q9UNT7	Silent	SNP	ENST00000304231.8	37	c.189G>A	CCDS45334.1																																																																																				0.438	HOMER2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418689.1			24	36	0	0	0	0.00047179	0	24	36				
AGBL1	123624	broad.mit.edu	37	15	87066060	87066061	+	Missense_Mutation	DNP	GG	GG	TC	rs372004187		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:87066060_87066061GG>TC	ENST00000441037.2	+	18	2532_2533	c.2437_2438GG>TC	c.(2437-2439)GGg>TCg	p.G813S	AGBL1_ENST00000421325.2_Missense_Mutation_p.G813S|AGBL1_ENST00000389298.3_Missense_Mutation_p.G544S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	813					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.G813S(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CTCACTGAGCGGGGAAGATTTG	0.431																																							uc002blz.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2437-2439)GGG>TCG		ATP/GTP binding protein-like 1																																				SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:87066060_87066061GG>TC	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	Exception_encountered	15.37:g.87066060_87066061delinsTC	ENSP00000413001:p.Gly813Ser						p.G813S	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			18	2517_2518	+			813					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	DNP	ENST00000441037.2	37	c.2437_2438GG>TC	CCDS58398.1																																																																																				0.431	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		7	92	0	0	0	6.4e-05	0	7	92				
SLCO3A1	28232	broad.mit.edu	37	15	92669306	92669306	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:92669306C>G	ENST00000318445.6	+	6	1404	c.1190C>G	c.(1189-1191)cCg>cGg	p.P397R	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.P397R|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	397					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.P397R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	ACTGCGATCCCGTGTGCTTGT	0.602																																							uc002bqx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1189-1191)CCG>CGG		solute carrier organic anion transporter family,							133.0	116.0	122.0					15																	92669306		2198	4298	6496	SO:0001583	missense	28232				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	g.chr15:92669306C>G	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1190C>G	15.37:g.92669306C>G	ENSP00000320634:p.Pro397Arg					SLCO3A1_uc002bqy.2_Missense_Mutation_p.P397R|SLCO3A1_uc010boc.1_RNA|SLCO3A1_uc002bqz.1_Missense_Mutation_p.P339R	p.P397R	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0841)		6	1391	+	Lung NSC(78;0.0158)|all_lung(78;0.0255)		397			Helical; Name=8; (Potential).		A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	c.1190C>G	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269311	0.80469	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.80653	-1.4;-1.4	5.48	5.48	0.80851	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.92747	0.7694	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94238	0.7482	10	0.87932	D	0	.	19.3564	0.94416	0.0:1.0:0.0:0.0	.	339;397;397	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	R	397;397;116	ENSP00000320634:P397R;ENSP00000387846:P397R	ENSP00000320634:P397R	P	+	2	0	SLCO3A1	90470310	1.000000	0.71417	0.980000	0.43619	0.892000	0.51952	7.270000	0.78493	2.572000	0.86782	0.561000	0.74099	CCG		0.602	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272		3	48	0	0	0	3.59834e-05	0	3	48				
LRRC28	123355	broad.mit.edu	37	15	99926275	99926275	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:99926275C>G	ENST00000301981.3	+	10	1312	c.1072C>G	c.(1072-1074)Cag>Gag	p.Q358E	LRRC28_ENST00000447360.2_Silent_p.P304P|LRRC28_ENST00000558879.1_3'UTR|LRRC28_ENST00000422500.2_Missense_Mutation_p.Q289E|LRRC28_ENST00000331450.5_Missense_Mutation_p.Q84E	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	358								p.Q358E(1)		endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CTGCTCCACCCAGTGTCTGCA	0.493																																							uc002bva.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1072-1074)CAG>GAG		leucine rich repeat containing 28							319.0	323.0	322.0					15																	99926275		2197	4297	6494	SO:0001583	missense	123355							g.chr15:99926275C>G	AK091588	CCDS10380.1, CCDS66873.1	15q26.3	2004-06-29			ENSG00000168904	ENSG00000168904			28355	protein-coding gene	gene with protein product						12975309	Standard	XM_005254861		Approved	MGC24976, FLJ34269, FLJ45242	uc002bva.1	Q86X40	OTTHUMG00000149854	ENST00000301981.3:c.1072C>G	15.37:g.99926275C>G	ENSP00000304923:p.Gln358Glu					LRRC28_uc002bvb.1_Missense_Mutation_p.Q204E|LRRC28_uc010urt.1_Missense_Mutation_p.Q172E|LRRC28_uc002bvc.1_Silent_p.P304P|LRRC28_uc010uru.1_Missense_Mutation_p.Q289E|LRRC28_uc002bvd.1_Missense_Mutation_p.Q84E	p.Q358E	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00106)		10	1227	+	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		358					A8KA22|Q6UY49|Q6ZSS6	Missense_Mutation	SNP	ENST00000301981.3	37	c.1072C>G	CCDS10380.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414690	0.42817	.	.	ENSG00000168904	ENST00000301981;ENST00000422500;ENST00000331450	T;T;T	0.51817	1.05;1.54;0.69	5.6	5.6	0.85130	.	0.284737	0.41194	D	0.000927	T	0.43166	0.1235	L	0.44542	1.39	0.80722	D	1	B;B;B	0.25007	0.002;0.071;0.116	B;B;B	0.19391	0.003;0.025;0.016	T	0.19484	-1.0304	10	0.30078	T	0.28	.	18.6092	0.91277	0.0:1.0:0.0:0.0	.	289;84;358	B4DHL3;Q8WUS2;Q86X40	.;.;LRC28_HUMAN	E	358;289;84	ENSP00000304923:Q358E;ENSP00000398606:Q289E;ENSP00000332035:Q84E	ENSP00000304923:Q358E	Q	+	1	0	LRRC28	97743798	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.713000	0.68415	2.627000	0.88993	0.655000	0.94253	CAG		0.493	LRRC28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313546.1	NM_144598		7	568	0	0	0	0.000157383	0	7	568				
TARSL2	123283	broad.mit.edu	37	15	102264433	102264433	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:102264433T>A	ENST00000335968.3	-	1	374	c.158A>T	c.(157-159)gAg>gTg	p.E53V		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	53					threonyl-tRNA aminoacylation (GO:0006435)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)	p.E53V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGCGCCACCTCCCGCGTGAG	0.736																																							uc002bxm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(157-159)GAG>GTG		threonyl-tRNA synthetase-like 2							4.0	4.0	4.0					15																	102264433		1787	3654	5441	SO:0001583	missense	123283				threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity	g.chr15:102264433T>A	AL833188	CCDS10394.1	15q26.3	2008-02-05			ENSG00000185418	ENSG00000185418			24728	protein-coding gene	gene with protein product							Standard	NM_152334		Approved	FLJ25005	uc002bxm.3	A2RTX5	OTTHUMG00000149869	ENST00000335968.3:c.158A>T	15.37:g.102264433T>A	ENSP00000338093:p.Glu53Val					TARSL2_uc010usi.1_RNA	p.E53V	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		1	213	-	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		53					B2RMP7|Q6B0A1|Q6IS76|Q96LW3|Q96MP4	Missense_Mutation	SNP	ENST00000335968.3	37	c.158A>T	CCDS10394.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.095193	0.76870	.	.	ENSG00000185418	ENST00000335968;ENST00000333018;ENST00000539112	.	.	.	3.18	3.18	0.36537	.	0.512426	0.19220	N	0.119695	T	0.49864	0.1582	L	0.43152	1.355	0.28112	N	0.930969	D	0.71674	0.998	D	0.73708	0.981	T	0.35500	-0.9786	9	0.87932	D	0	-16.115	5.7497	0.18140	0.2392:0.0:0.0:0.7608	.	53	A2RTX5	SYTC2_HUMAN	V	53	.	ENSP00000329291:E53V	E	-	2	0	TARSL2	100081956	0.994000	0.37717	1.000000	0.80357	0.927000	0.56198	0.531000	0.23052	1.478000	0.48253	0.248000	0.18094	GAG		0.736	TARSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313619.3	NM_152334		5	4	0	0	0	1.23904e-05	0	5	4				
MGRN1	23295	broad.mit.edu	37	16	4700385	4700385	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:4700385C>G	ENST00000399577.5	+	2	201	c.108C>G	c.(106-108)caC>caG	p.H36Q	MGRN1_ENST00000415496.1_Missense_Mutation_p.H36Q|MGRN1_ENST00000262370.7_Missense_Mutation_p.H36Q|MGRN1_ENST00000588994.1_Missense_Mutation_p.H36Q|MGRN1_ENST00000586183.1_Missense_Mutation_p.H36Q	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	36					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H36Q(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						TTGCTTCGCACTTTTTCATGG	0.458																																							uc002cwz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(106-108)CAC>CAG		mahogunin, ring finger 1 isoform 3							82.0	85.0	84.0					16																	4700385		1860	4102	5962	SO:0001583	missense	23295				endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:4700385C>G	AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.108C>G	16.37:g.4700385C>G	ENSP00000382487:p.His36Gln					MGRN1_uc002cxa.2_Missense_Mutation_p.H36Q|MGRN1_uc010btx.2_Missense_Mutation_p.H36Q|MGRN1_uc010btw.2_Missense_Mutation_p.H36Q|MGRN1_uc002cxb.2_Missense_Mutation_p.H36Q|MGRN1_uc010uxo.1_Missense_Mutation_p.H36Q|MGRN1_uc010uxp.1_Missense_Mutation_p.H36Q|MGRN1_uc010uxq.1_RNA	p.H36Q	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN			2	244	+			36					A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	ENST00000399577.5	37	c.108C>G	CCDS45402.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102476	0.56183	.	.	ENSG00000102858	ENST00000262370;ENST00000399577;ENST00000415496;ENST00000536343	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.01	3.01	0.34805	.	0.047697	0.85682	D	0.000000	T	0.50017	0.1591	M	0.71581	2.175	0.80722	D	1	D;D;D;D;P;D	0.89917	0.999;1.0;0.999;1.0;0.875;1.0	D;D;D;D;P;D	0.91635	0.998;0.999;0.996;0.999;0.771;0.996	T	0.49725	-0.8909	10	0.59425	D	0.04	-36.1419	9.0801	0.36547	0.0:0.8169:0.0:0.1831	.	36;36;36;36;36;36	O60291-4;O60291-3;B4DR12;E9PB19;O60291-2;O60291	.;.;.;.;.;MGRN1_HUMAN	Q	36	ENSP00000262370:H36Q;ENSP00000382487:H36Q;ENSP00000393311:H36Q;ENSP00000443810:H36Q	ENSP00000262370:H36Q	H	+	3	2	MGRN1	4640386	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.718000	0.25866	1.073000	0.40885	0.555000	0.69702	CAC		0.458	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			44	21	0	0	0	0.000147903	0	44	21				
CIITA	4261	broad.mit.edu	37	16	11002979	11002979	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:11002979C>T	ENST00000324288.8	+	12	2884	c.2751C>T	c.(2749-2751)atC>atT	p.I917I	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Silent_p.I333I	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	917					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)	p.I917I(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGTTCACCATCGAGCCTTTCA	0.592			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																		uc002dai.3		NA		Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|		1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(2749-2751)ATC>ATT		class II transactivator							93.0	63.0	73.0					16																	11002979		2197	4300	6497	SO:0001819	synonymous_variant	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11002979C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2751C>T	16.37:g.11002979C>T						CIITA_uc002daj.3_Silent_p.I918I|CIITA_uc002dak.3_Silent_p.I333I|CIITA_uc010bup.1_Intron	p.I917I	NM_000246	NP_000237	P33076	C2TA_HUMAN			12	2884	+			917					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	ENST00000324288.8	37	c.2751C>T	CCDS10544.1																																																																																				0.592	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		20	13	0	0	0	0.000175454	0	20	13				
GP2	2813	broad.mit.edu	37	16	20329730	20329730	+	Missense_Mutation	SNP	C	C	G	rs192352686	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:20329730C>G	ENST00000381362.4	-	8	1115	c.1039G>C	c.(1039-1041)Ggg>Cgg	p.G347R	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000302555.5_Missense_Mutation_p.G344R|GP2_ENST00000381360.5_Missense_Mutation_p.G200R|GP2_ENST00000341642.5_Missense_Mutation_p.G197R	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	347	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.G344R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCTCCATTCCCGTCCACACTG	0.468																																							uc002dgv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1039-1041)GGG>CGG		zymogen granule membrane glycoprotein 2 isoform							227.0	197.0	207.0					16																	20329730		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20329730C>G	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1039G>C	16.37:g.20329730C>G	ENSP00000370767:p.Gly347Arg					GP2_uc002dgw.2_Missense_Mutation_p.G344R|GP2_uc002dgx.2_Missense_Mutation_p.G200R|GP2_uc002dgy.2_Missense_Mutation_p.G197R	p.G347R	NM_001007240	NP_001007241	P55259	GP2_HUMAN			8	1122	-			347			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.1039G>C	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404724	0.83230	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.8	5.8	0.92144	Zona pellucida sperm-binding protein (3);	.	.	.	.	D	0.92047	0.7480	M	0.86178	2.8	0.51482	D	0.999921	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;0.999	D	0.92264	0.5819	9	0.56958	D	0.05	-32.1939	17.5568	0.87892	0.0:1.0:0.0:0.0	.	197;325;344;347	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	R	344;347;200;197;325	ENSP00000304044:G344R;ENSP00000370767:G347R;ENSP00000370765:G200R;ENSP00000343861:G197R	ENSP00000304044:G344R	G	-	1	0	GP2	20237231	0.015000	0.18098	0.237000	0.24090	0.019000	0.09904	1.928000	0.40104	2.741000	0.93983	0.650000	0.86243	GGG		0.468	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		4	112	0	0	0	3.59834e-05	0	4	112				
ACSM5	54988	broad.mit.edu	37	16	20429419	20429419	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:20429419C>G	ENST00000331849.4	+	3	390	c.243C>G	c.(241-243)gtC>gtG	p.V81V	ACSM5_ENST00000575584.1_Silent_p.V81V	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	81					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.V81V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TCTGGTGGGTCAATGGCACAG	0.532																																							uc002dhe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(241-243)GTC>GTG		acyl-CoA synthetase medium-chain family member 5							50.0	45.0	47.0					16																	20429419		2203	4300	6503	SO:0001819	synonymous_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20429419C>G		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.243C>G	16.37:g.20429419C>G						ACSM5_uc002dhd.1_Silent_p.V81V	p.V81V	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			3	390	+			81					Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	c.243C>G	CCDS10585.1																																																																																				0.532	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		12	16	0	0	0	0.00010058	0	12	16				
PRKCB	5579	broad.mit.edu	37	16	24196864	24196864	+	Silent	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:24196864G>A	ENST00000321728.7	+	15	1873	c.1698G>A	c.(1696-1698)aaG>aaA	p.K566K	PRKCB_ENST00000303531.7_Silent_p.K566K	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	566	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.K566K(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CTATGTCCAAGGAAGCTGTGG	0.512																																							uc002dmd.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9						c.(1696-1698)AAG>AAA		protein kinase C, beta isoform 1	Vitamin E(DB00163)						145.0	120.0	129.0					16																	24196864		2197	4300	6497	SO:0001819	synonymous_variant	5579				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	g.chr16:24196864G>A	M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1698G>A	16.37:g.24196864G>A						PRKCB_uc002dme.2_Silent_p.K566K	p.K566K	NM_212535	NP_997700	P05771	KPCB_HUMAN			15	1895	+			566			Protein kinase.		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	ENST00000321728.7	37	c.1698G>A	CCDS10618.1																																																																																				0.512	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535		32	19	0	0	0	0.000159656	0	32	19				
KIAA0556	23247	broad.mit.edu	37	16	27751862	27751862	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:27751862C>G	ENST00000261588.4	+	15	2263	c.2244C>G	c.(2242-2244)ccC>ccG	p.P748P		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	748						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P748P(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTGAGCCACCCGGGAAAACCC	0.577																																							uc002dow.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						c.(2242-2244)CCC>CCG		hypothetical protein LOC23247							71.0	72.0	71.0					16																	27751862		2197	4300	6497	SO:0001819	synonymous_variant	23247							g.chr16:27751862C>G	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.2244C>G	16.37:g.27751862C>G							p.P748P	NM_015202	NP_056017	O60303	K0556_HUMAN			15	2268	+			748					A7E2C2	Silent	SNP	ENST00000261588.4	37	c.2244C>G	CCDS32415.1																																																																																				0.577	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	NM_015202		4	58	0	0	0	1.23904e-05	0	4	58				
CD2BP2	10421	broad.mit.edu	37	16	30365255	30365255	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:30365255C>A	ENST00000305596.3	-	4	517	c.342G>T	c.(340-342)caG>caT	p.Q114H	RP11-347C12.10_ENST00000563252.1_lincRNA|CD2BP2_ENST00000569466.1_Missense_Mutation_p.Q114H	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	114					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)	p.Q114H(1)		breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TGTCTCGGATCTGAGCATCCC	0.632																																							uc002dxr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(340-342)CAG>CAT		CD2 antigen (cytoplasmic tail) binding protein							71.0	67.0	69.0					16																	30365255		2197	4300	6497	SO:0001583	missense	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365255C>A	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.342G>T	16.37:g.30365255C>A	ENSP00000304903:p.Gln114His					CD2BP2_uc002dxs.2_Missense_Mutation_p.Q114H	p.Q114H	NM_006110	NP_006101	O95400	CD2B2_HUMAN			3	595	-			114					B2RDX2|Q9ULP2	Missense_Mutation	SNP	ENST00000305596.3	37	c.342G>T	CCDS10675.1	.	.	.	.	.	.	.	.	.	.	N	18.50	3.638377	0.67130	.	.	ENSG00000169217	ENST00000305596	T	0.30714	1.52	4.87	3.92	0.45320	.	0.294833	0.37669	N	0.001992	T	0.34337	0.0894	L	0.54323	1.7	0.40644	D	0.98197	D	0.59357	0.985	P	0.47827	0.558	T	0.13575	-1.0504	10	0.35671	T	0.21	-0.3819	12.2337	0.54503	0.0:0.9161:0.0:0.0839	.	114	O95400	CD2B2_HUMAN	H	114	ENSP00000304903:Q114H	ENSP00000304903:Q114H	Q	-	3	2	CD2BP2	30272756	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.864000	0.39469	1.275000	0.44379	0.558000	0.71614	CAG		0.632	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		82	29	1	0	1.30681e-28	0.000147903	3.37368e-27	82	29				
CD2BP2	10421	broad.mit.edu	37	16	30365934	30365935	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:30365934_30365935GG>TT	ENST00000305596.3	-	2	243_244	c.68_69CC>AA	c.(67-69)cCC>cAA	p.P23Q	RP11-347C12.10_ENST00000563252.1_lincRNA|CD2BP2_ENST00000569466.1_Missense_Mutation_p.P23Q	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	23					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of phosphatase activity (GO:0010923)|RNA splicing (GO:0008380)|spliceosomal tri-snRNP complex assembly (GO:0000244)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	ribonucleoprotein complex binding (GO:0043021)			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CCTTCTTCTTGGGGACAATGAT	0.569																																							uc002dxr.2		NA																	0				ovary(1)	1						c.(67-69)CCC>CAA		CD2 antigen (cytoplasmic tail) binding protein																																				SO:0001583	missense	10421				assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	g.chr16:30365934_30365935GG>TT	AF104222	CCDS10675.1	16p11.2	2012-04-17	2006-03-28		ENSG00000169217	ENSG00000169217		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 59"""	604470	"""CD2 antigen (cytoplasmic tail)-binding protein 2"""			9843987	Standard	NM_006110		Approved	LIN1, Snu40, PPP1R59	uc002dxs.3	O95400	OTTHUMG00000132397	ENST00000305596.3:c.68_69delinsTT	16.37:g.30365934_30365935delinsTT	ENSP00000304903:p.Pro23Gln					CD2BP2_uc002dxs.2_Missense_Mutation_p.P23Q	p.P23Q	NM_006110	NP_006101	O95400	CD2B2_HUMAN			1	321_322	-			23					B2RDX2|Q9ULP2	Missense_Mutation	DNP	ENST00000305596.3	37	c.68_69CC>AA	CCDS10675.1																																																																																				0.569	CD2BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255528.1	NM_006110		25	776	0	0	0	6.4e-05	0	25	776				
ITGAL	3683	broad.mit.edu	37	16	30507469	30507469	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:30507469G>C	ENST00000356798.6	+	14	1735	c.1555G>C	c.(1555-1557)Ggg>Cgg	p.G519R	ITGAL_ENST00000568012.1_3'UTR|RP11-297C4.1_ENST00000563751.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.G436R|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	519					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.G519R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CTACCCACTCGGGCGGTTTGG	0.597																																					NSCLC(110;1462 1641 3311 33990 49495)	NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(1555-1557)GGG>CGG		integrin alpha L isoform a precursor	Efalizumab(DB00095)						75.0	83.0	80.0					16																	30507469		2197	4300	6497	SO:0001583	missense	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30507469G>C		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.1555G>C	16.37:g.30507469G>C	ENSP00000349252:p.Gly519Arg					ITGAL_uc002dyj.3_Missense_Mutation_p.G436R|ITGAL_uc010vev.1_Intron	p.G519R	NM_002209	NP_002200	P20701	ITAL_HUMAN			14	1731	+			519			FG-GAP 6.|Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.1555G>C	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857481	0.51376	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.36699	1.24;1.24	5.94	4.99	0.66335	.	0.100940	0.44483	N	0.000443	T	0.64702	0.2622	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71652	-0.4528	10	0.87932	D	0	.	12.1137	0.53854	0.0798:0.0:0.9202:0.0	.	436;519	Q96HB1;P20701	.;ITAL_HUMAN	R	519;436	ENSP00000349252:G519R;ENSP00000350886:G436R	ENSP00000349252:G519R	G	+	1	0	ITGAL	30414970	1.000000	0.71417	0.361000	0.25849	0.005000	0.04900	6.980000	0.76160	1.522000	0.49001	0.563000	0.77884	GGG		0.597	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			5	236	0	0	0	1.23904e-05	0	5	236				
SRCAP	10847	broad.mit.edu	37	16	30732600	30732600	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:30732600G>T	ENST00000262518.4	+	21	3729	c.3344G>T	c.(3343-3345)cGc>cTc	p.R1115L	SRCAP_ENST00000395059.2_Missense_Mutation_p.R1115L|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1115	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.R1115L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCCCAGTTCGCCTGAGCCCA	0.642																																							uc002dze.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3343-3345)CGC>CTC		Snf2-related CBP activator protein							109.0	115.0	113.0					16																	30732600		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30732600G>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3344G>T	16.37:g.30732600G>T	ENSP00000262518:p.Arg1115Leu					SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.R972L|SRCAP_uc010bzz.1_Missense_Mutation_p.R685L	p.R1115L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		21	3729	+			1115			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.3344G>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009300	0.35415	.	.	ENSG00000080603	ENST00000262518;ENST00000395059	D;D	0.90955	-2.76;-2.75	5.36	5.36	0.76844	.	.	.	.	.	D	0.87370	0.6160	N	0.14661	0.345	0.80722	D	1	D;D	0.61697	0.99;0.982	P;P	0.58454	0.839;0.694	D	0.84248	0.0476	9	0.26408	T	0.33	-6.0038	9.9285	0.41507	0.0895:0.0:0.9105:0.0	.	1115;1115	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	L	1115	ENSP00000262518:R1115L;ENSP00000378499:R1115L	ENSP00000262518:R1115L	R	+	2	0	SRCAP	30640101	0.996000	0.38824	0.971000	0.41717	0.995000	0.86356	3.531000	0.53546	2.788000	0.95919	0.557000	0.71058	CGC		0.642	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		139	102	1	0	1.9326e-39	0.000147903	5.08461e-38	139	102				
TGFB1I1	7041	broad.mit.edu	37	16	31485199	31485199	+	Missense_Mutation	SNP	G	G	T	rs149961993	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:31485199G>T	ENST00000394863.3	+	4	356	c.226G>T	c.(226-228)Gcc>Tcc	p.A76S	TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A59S|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A59S|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A59S	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	76	Interaction with PTK2B/PYK2.|Transcription activation. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A76S(1)|p.A59S(1)		lung(8)|upper_aerodigestive_tract(1)	9						AGCCCCGGCGGCCCCTCCATT	0.602																																							uc002ecd.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(226-228)GCC>TCC		transforming growth factor beta 1 induced							52.0	60.0	57.0					16																	31485199		2197	4300	6497	SO:0001583	missense	7041				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	g.chr16:31485199G>T	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.226G>T	16.37:g.31485199G>T	ENSP00000378332:p.Ala76Ser					TGFB1I1_uc002ece.1_Missense_Mutation_p.A59S|TGFB1I1_uc010caq.1_5'UTR	p.A76S	NM_001042454	NP_001035919	O43294	TGFI1_HUMAN			4	252	+			76			Transcription activation (By similarity).|Interaction with PTK2B.		B2R8D5|Q9BPW3|Q9Y2V5	Missense_Mutation	SNP	ENST00000394863.3	37	c.226G>T	CCDS42156.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461835	0.43736	.	.	ENSG00000140682	ENST00000394863;ENST00000361773;ENST00000394858	T;T;T	0.08546	3.08;3.08;3.08	5.0	3.01	0.34805	.	0.523720	0.20547	N	0.090185	T	0.05181	0.0138	L	0.29908	0.895	0.29828	N	0.83023	B	0.14438	0.01	B	0.18263	0.021	T	0.38972	-0.9636	10	0.07482	T	0.82	.	6.7232	0.23342	0.0949:0.1789:0.7262:0.0	.	76	O43294	TGFI1_HUMAN	S	76;59;59	ENSP00000378332:A76S;ENSP00000355117:A59S;ENSP00000378327:A59S	ENSP00000355117:A59S	A	+	1	0	TGFB1I1	31392700	0.997000	0.39634	0.926000	0.36857	0.985000	0.73830	1.916000	0.39986	0.666000	0.31087	0.561000	0.74099	GCC		0.602	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3			46	65	1	0	1.81118e-26	0.000147903	4.62372e-25	46	65				
NOD2	64127	broad.mit.edu	37	16	50733803	50733803	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:50733803G>A	ENST00000300589.2	+	2	583	c.478G>A	c.(478-480)Ggt>Agt	p.G160S	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	160	CARD 2. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.G160S(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ATGGGAGCGGGGTTTCGTCAG	0.587																																							uc002egm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(478-480)GGT>AGT		nucleotide-binding oligomerization domain							74.0	65.0	68.0					16																	50733803		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50733803G>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.478G>A	16.37:g.50733803G>A	ENSP00000300589:p.Gly160Ser					NOD2_uc010cbj.1_Missense_Mutation_p.G133S|NOD2_uc010cbk.1_Missense_Mutation_p.G133S|NOD2_uc002egl.1_5'UTR	p.G160S	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			2	583	+		all_cancers(37;0.0156)	160			CARD 2.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.478G>A	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.927482	0.52759	.	.	ENSG00000167207	ENST00000526417;ENST00000531674;ENST00000300589	T;T	0.22134	2.3;1.97	5.29	5.29	0.74685	DEATH-like (2);Caspase Recruitment (2);	0.231803	0.30285	N	0.009975	T	0.43233	0.1238	M	0.63843	1.955	0.38945	D	0.95823	D	0.89917	1.0	D	0.97110	1.0	T	0.30650	-0.9971	10	0.44086	T	0.13	.	14.4314	0.67254	0.0:0.0:1.0:0.0	.	160	Q9HC29	NOD2_HUMAN	S	133;133;160	ENSP00000431681:G133S;ENSP00000300589:G160S	ENSP00000300589:G160S	G	+	1	0	NOD2	49291304	0.996000	0.38824	0.515000	0.27774	0.242000	0.25591	3.324000	0.52022	2.471000	0.83476	0.591000	0.81541	GGT		0.587	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		14	33	0	0	0	5.01169e-05	0	14	33				
POLR2C	5432	broad.mit.edu	37	16	57504902	57504902	+	Silent	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:57504902G>T	ENST00000219252.5	+	9	1037	c.699G>T	c.(697-699)gtG>gtT	p.V233V		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	233					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.V233V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						ACTACAATGTGGAGTCCTGTG	0.532																																							uc002elt.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(697-699)GTG>GTT		DNA directed RNA polymerase II polypeptide C							122.0	110.0	114.0					16																	57504902		2198	4300	6498	SO:0001819	synonymous_variant	5432				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr16:57504902G>T		CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"""RNA polymerase subunits"""	9189	protein-coding gene	gene with protein product	"""RNA polymerase II subunit 3"""	180663	"""polymerase (RNA) II (DNA directed) polypeptide C (33kD)"""			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.699G>T	16.37:g.57504902G>T							p.V233V	NM_032940	NP_116558	P19387	RPB3_HUMAN			9	785	+			233					O15161	Silent	SNP	ENST00000219252.5	37	c.699G>T	CCDS10782.1																																																																																				0.532	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257340.3	NM_032940		7	116	1	0	0.000274275	0.000274275	0.00558288	7	116				
RRAD	6236	broad.mit.edu	37	16	66957790	66957790	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:66957790C>G	ENST00000299759.6	-	3	653	c.403G>C	c.(403-405)Gga>Cga	p.G135R	RRAD_ENST00000420652.1_Missense_Mutation_p.G135R			P55042	RAD_HUMAN	Ras-related associated with diabetes	135					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G135*(1)|p.G135R(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GCCTCTTCTCCGTCCACTACA	0.562																																							uc002eqn.2		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)		0						c.(403-405)GGA>CGA		Ras-related associated with diabetes							218.0	204.0	209.0					16																	66957790		2200	4300	6500	SO:0001583	missense	6236				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr16:66957790C>G	L24564	CCDS10824.1	16q22	2014-05-09			ENSG00000166592	ENSG00000166592			10446	protein-coding gene	gene with protein product		179503				7859947	Standard	NM_004165		Approved	REM3, RAD	uc002eqo.2	P55042	OTTHUMG00000137511	ENST00000299759.6:c.403G>C	16.37:g.66957790C>G	ENSP00000299759:p.Gly135Arg					RRAD_uc002eqo.2_Missense_Mutation_p.G135R	p.G135R	NM_001128850	NP_001122322	P55042	RAD_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	3	555	-		Ovarian(137;0.192)	135					Q96F39	Missense_Mutation	SNP	ENST00000299759.6	37	c.403G>C	CCDS10824.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548614	0.86127	.	.	ENSG00000166592	ENST00000420652;ENST00000299759	D;D	0.83755	-1.76;-1.76	4.11	4.11	0.48088	Small GTP-binding protein domain (1);	0.107484	0.64402	D	0.000005	D	0.92331	0.7567	M	0.92507	3.315	0.58432	D	0.999999	D	0.71674	0.998	D	0.63957	0.92	D	0.94461	0.7676	10	0.87932	D	0	.	16.5253	0.84329	0.0:1.0:0.0:0.0	.	135	P55042	RAD_HUMAN	R	135	ENSP00000388744:G135R;ENSP00000299759:G135R	ENSP00000299759:G135R	G	-	1	0	RRAD	65515291	1.000000	0.71417	0.999000	0.59377	0.916000	0.54674	4.581000	0.60949	2.294000	0.77228	0.561000	0.74099	GGA		0.562	RRAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268830.1	NM_004165		4	151	0	0	0	1.23904e-05	0	4	151				
KCTD19	146212	broad.mit.edu	37	16	67333438	67333438	+	Missense_Mutation	SNP	C	C	G	rs200934934		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:67333438C>G	ENST00000304372.5	-	6	869	c.814G>C	c.(814-816)Ggg>Cgg	p.G272R	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	272					protein homooligomerization (GO:0051260)			p.G272R(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GCCCCCTTCCCGGGGCTCAGG	0.637																																							uc002esu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(814-816)GGG>CGG		potassium channel tetramerisation domain							60.0	67.0	65.0					16																	67333438		1882	4107	5989	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67333438C>G	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.814G>C	16.37:g.67333438C>G	ENSP00000305702:p.Gly272Arg					KCTD19_uc002est.2_Missense_Mutation_p.G44R|KCTD19_uc010vjj.1_Missense_Mutation_p.G15R	p.G272R	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	6	865	-		Ovarian(137;0.192)	272					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.814G>C	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392322	0.62066	.	.	ENSG00000168676	ENST00000304372	T	0.60424	0.19	5.77	4.81	0.61882	.	0.000000	0.64402	D	0.000003	T	0.56558	0.1993	N	0.19112	0.55	0.34842	D	0.740767	D	0.71674	0.998	P	0.62298	0.9	T	0.65529	-0.6146	10	0.56958	D	0.05	-26.0985	10.0452	0.42182	0.0:0.9103:0.0:0.0897	.	272	Q17RG1	KCD19_HUMAN	R	272	ENSP00000305702:G272R	ENSP00000305702:G272R	G	-	1	0	KCTD19	65890939	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	2.109000	0.41863	2.884000	0.98904	0.655000	0.94253	GGG		0.637	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367		4	94	0	0	0	0.00024832	0	4	94				
RANBP10	57610	broad.mit.edu	37	16	67805983	67805983	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:67805983C>G	ENST00000317506.3	-	3	469	c.354G>C	c.(352-354)atG>atC	p.M118I	RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000425512.2_Intron|RANBP10_ENST00000411657.2_Start_Codon_SNP_p.M1I|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000602677.1_Missense_Mutation_p.M118I|RANBP10_ENST00000448631.2_Missense_Mutation_p.M118I	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	118	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.M118I(1)		endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GTCCTATTCCCATGTAACTTC	0.373																																							uc002eud.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(352-354)ATG>ATC		RAN binding protein 10							105.0	101.0	103.0					16																	67805983		2198	4300	6498	SO:0001583	missense	57610							g.chr16:67805983C>G	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.354G>C	16.37:g.67805983C>G	ENSP00000316589:p.Met118Ile					RANBP10_uc010ceo.2_5'UTR|RANBP10_uc010vju.1_Missense_Mutation_p.M118I|RANBP10_uc010vjv.1_Missense_Mutation_p.M1I|RANBP10_uc010vjx.1_Missense_Mutation_p.M118I|RANBP10_uc010vjy.1_Intron	p.M118I	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)	3	470	-		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)	118			B30.2/SPRY.		A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	ENST00000317506.3	37	c.354G>C	CCDS32469.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039922	0.75732	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000411657	T;T;T	0.59638	0.25;0.25;0.25	5.11	5.11	0.69529	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.45856	0.1363	N	0.01761	-0.735	0.80722	D	1	B;P;D;B	0.54207	0.065;0.925;0.965;0.169	B;D;P;B	0.67900	0.124;0.954;0.696;0.124	T	0.45338	-0.9268	10	0.02654	T	1	-11.3845	15.9133	0.79488	0.0:1.0:0.0:0.0	.	118;1;118;118	B4E1Y2;B4DID0;B4DQH9;Q6VN20	.;.;.;RBP10_HUMAN	I	118;118;1	ENSP00000316589:M118I;ENSP00000392808:M118I;ENSP00000416460:M1I	ENSP00000316589:M118I	M	-	3	0	RANBP10	66363484	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.426000	0.66476	2.826000	0.97356	0.655000	0.94253	ATG		0.373	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850		6	205	0	0	0	3.59834e-05	0	6	205				
TANGO6	79613	broad.mit.edu	37	16	68912103	68912103	+	Nonsense_Mutation	SNP	C	C	G	rs372860158		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:68912103C>G	ENST00000261778.1	+	6	1226	c.1214C>G	c.(1213-1215)tCa>tGa	p.S405*		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	405						integral component of membrane (GO:0016021)		p.S405*(1)									ATAACTTTGTCAAGAGAACGC	0.408																																							uc002ewi.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1213-1215)TCA>TGA		transmembrane and coiled-coil domains 7							90.0	84.0	86.0					16																	68912103		1981	4170	6151	SO:0001587	stop_gained	79613					integral to membrane	binding	g.chr16:68912103C>G		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.1214C>G	16.37:g.68912103C>G	ENSP00000261778:p.Ser405*						p.S405*	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	6	1226	+		Ovarian(137;0.0568)	405					Q569F9|Q9H9K1	Nonsense_Mutation	SNP	ENST00000261778.1	37	c.1214C>G	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	C	37	6.202167	0.97371	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.48	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-0.0398	11.8932	0.52641	0.0:0.9163:0.0:0.0837	.	.	.	.	X	405	.	ENSP00000261778:S405X	S	+	2	0	TMCO7	67469604	0.994000	0.37717	0.993000	0.49108	0.998000	0.95712	1.148000	0.31614	1.292000	0.44672	0.650000	0.86243	TCA		0.408	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		28	49	0	0	0	0.000339439	0	28	49				
PDPR	55066	broad.mit.edu	37	16	70180115	70180115	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:70180115C>A	ENST00000288050.4	+	16	2903	c.1946C>A	c.(1945-1947)cCa>cAa	p.P649Q	PDPR_ENST00000568530.1_Missense_Mutation_p.P649Q|PDPR_ENST00000542659.1_5'UTR|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000567046.1_Missense_Mutation_p.P7Q|PDPR_ENST00000398122.3_Missense_Mutation_p.P549Q	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	649					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GACCACTTCCCAAGCCTCTTT	0.453																																							uc002eyf.1		NA																	0				breast(1)	1						c.(1945-1947)CCA>CAA		pyruvate dehydrogenase phosphatase regulatory							134.0	136.0	136.0					16																	70180115		1909	4137	6046	SO:0001583	missense	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70180115C>A		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.1946C>A	16.37:g.70180115C>A	ENSP00000288050:p.Pro649Gln					CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.P549Q|PDPR_uc002eyg.1_Missense_Mutation_p.P377Q|PDPR_uc002eyh.2_5'UTR|PDPR_uc010vls.1_5'UTR	p.P649Q	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	16	2903	+			649					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	ENST00000288050.4	37	c.1946C>A	CCDS45520.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464824	0.84425	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055	D;D	0.85171	-1.95;-1.95	5.02	5.02	0.67125	Glycine cleavage T-protein, N-terminal (1);	0.050410	0.85682	D	0.000000	D	0.94003	0.8079	M	0.92923	3.36	0.80722	D	1	D;P	0.71674	0.998;0.74	D;P	0.70935	0.971;0.588	D	0.95442	0.8526	10	0.87932	D	0	.	17.3278	0.87253	0.0:1.0:0.0:0.0	.	377;649	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	Q	649;549;377	ENSP00000288050:P649Q;ENSP00000381190:P549Q	ENSP00000205055:P377Q	P	+	2	0	PDPR	68737616	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.618000	0.83043	2.343000	0.79666	0.462000	0.41574	CCA		0.453	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		10	266	1	0	3.27435e-08	0.000219431	7.37399e-07	10	266				
AARS	16	broad.mit.edu	37	16	70305819	70305819	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:70305819C>T	ENST00000261772.8	-	5	679	c.536G>A	c.(535-537)gGt>gAt	p.G179D		NM_001605.2	NP_001596.2			alanyl-tRNA synthetase									p.G179D(1)		breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		GCCCGTGTCACCCATCTCCCA	0.542																																							uc002eyn.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(535-537)GGT>GAT		alanyl-tRNA synthetase	L-Alanine(DB00160)						107.0	103.0	104.0					16																	70305819		2198	4300	6498	SO:0001583	missense	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70305819C>T	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.536G>A	16.37:g.70305819C>T	ENSP00000261772:p.Gly179Asp					AARS_uc010vlu.1_Missense_Mutation_p.G9D	p.G179D	NM_001605	NP_001596	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	5	646	-		Ovarian(137;0.0365)	179						Missense_Mutation	SNP	ENST00000261772.8	37	c.536G>A	CCDS32474.1	.	.	.	.	.	.	.	.	.	.	C	34	5.349534	0.95830	.	.	ENSG00000090861	ENST00000261772	T	0.79749	-1.3	5.76	5.76	0.90799	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94108	0.8111	H	0.98333	4.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96004	0.8996	10	0.87932	D	0	-19.3509	17.4632	0.87625	0.0:1.0:0.0:0.0	.	187;179	E7ETK8;P49588	.;SYAC_HUMAN	D	179	ENSP00000261772:G179D	ENSP00000261772:G179D	G	-	2	0	AARS	68863320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.719000	0.93026	0.655000	0.94253	GGT		0.542	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		29	53	0	0	0	0.000279167	0	29	53				
SF3B3	23450	broad.mit.edu	37	16	70563080	70563080	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:70563080C>A	ENST00000302516.5	+	3	586	c.375C>A	c.(373-375)ccC>ccA	p.P125P	SNORD111B_ENST00000408587.1_RNA	NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	125					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CTGTGGATCCCAAAGGGCGAG	0.463																																							uc002ezf.2		NA																	0				ovary(1)	1						c.(373-375)CCC>CCA		splicing factor 3b, subunit 3							49.0	49.0	49.0					16																	70563080		2198	4300	6498	SO:0001819	synonymous_variant	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70563080C>A	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.375C>A	16.37:g.70563080C>A						SNORD111B_uc010cfv.1_5'Flank	p.P125P	NM_012426	NP_036558	Q15393	SF3B3_HUMAN			3	586	+		Ovarian(137;0.0694)	125					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	ENST00000302516.5	37	c.375C>A	CCDS10894.1																																																																																				0.463	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		7	55	1	0	6.31663e-08	0.000308642	1.41328e-06	7	55				
HYDIN	54768	broad.mit.edu	37	16	70954583	70954583	+	Missense_Mutation	SNP	C	C	A	rs369438771		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:70954583C>A	ENST00000393567.2	-	46	7846	c.7696G>T	c.(7696-7698)Gta>Tta	p.V2566L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2566					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.V2565L(1)|p.V2517L(1)|p.V196L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGGAAGGGTACGCCCAGGtcc	0.612																																							uc002ezr.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)|skin(1)	2						c.(7693-7695)GTA>TTA		hydrocephalus inducing isoform a							43.0	46.0	45.0					16																	70954583		2033	4189	6222	SO:0001583	missense	54768							g.chr16:70954583C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.7696G>T	16.37:g.70954583C>A	ENSP00000377197:p.Val2566Leu						p.V2565L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			46	7821	-		Ovarian(137;0.0654)	2566					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.7693G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328327	0.60743	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01252	5.1	5.89	5.89	0.94794	.	0.000000	0.30085	U	0.010441	T	0.08268	0.0206	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01819	-1.1267	10	0.51188	T	0.08	.	18.0178	0.89247	0.0:1.0:0.0:0.0	.	2565	F8WD23	.	L	2566;2565	ENSP00000377197:V2566L	ENSP00000313052:V2565L	V	-	1	0	HYDIN	69512084	0.973000	0.33851	0.964000	0.40570	0.033000	0.12548	2.322000	0.43814	2.790000	0.95986	0.609000	0.83330	GTA		0.612	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			10	22	1	0	2.17888e-05	0.000442599	0.000469192	10	22				
DHX38	9785	broad.mit.edu	37	16	72142724	72142725	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:72142724_72142725GC>TT	ENST00000268482.3	+	24	3790_3791	c.3281_3282GC>TT	c.(3280-3282)cGC>cTT	p.R1094L	DHX38_ENST00000536867.1_Missense_Mutation_p.R406L	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1094					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|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)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.R1094L(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GTGAACATCCGCACAGGGATGC	0.55																																					Melanoma(97;711 1442 7855 13832 28836)	Melanoma(97;711 1442 7855 13832 28836)	uc002fcb.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(3280-3282)CGC>CTT		DEAH (Asp-Glu-Ala-His) box polypeptide 38																																				SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72142724_72142725GC>TT	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	Exception_encountered	16.37:g.72142724_72142725delinsTT	ENSP00000268482:p.Arg1094Leu					DHX38_uc010vmp.1_Missense_Mutation_p.R406L	p.R1094L	NM_014003	NP_054722	Q92620	PRP16_HUMAN			24	3636_3637	+		Ovarian(137;0.125)	1094					B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	DNP	ENST00000268482.3	37	c.3281_3282GC>TT	CCDS10907.1																																																																																				0.550	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		10	24	0	0	0	6.4e-05	0	10	24				
GAN	8139	broad.mit.edu	37	16	81388139	81388139	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:81388139C>G	ENST00000568107.2	+	3	574	c.412C>G	c.(412-414)Cgt>Ggt	p.R138G		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	138	BACK.		R -> H (in GAN1). {ECO:0000269|PubMed:11062483}.		cell death (GO:0008219)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R138G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				TATTGGTATCCGTGACTTTGC	0.483																																					GBM(106;1239 1507 7582 9741 33976)	GBM(106;1239 1507 7582 9741 33976)	uc002fgo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(412-414)CGT>GGT		gigaxonin							237.0	211.0	220.0					16																	81388139		2202	4300	6502	SO:0001583	missense	8139				cell death	cytoplasm|neurofilament	protein binding	g.chr16:81388139C>G	AF291673	CCDS10935.1	16q24.1	2014-09-17	2008-08-01		ENSG00000261609	ENSG00000261609		"""Kelch-like"", ""BTB/POZ domain containing"""	4137	protein-coding gene	gene with protein product	"""kelch-like family member 16"""	605379	"""giant axonal neuropathy (gigaxonin)"""			9450783, 11062483	Standard	NM_022041		Approved	GAN1, KLHL16	uc002fgo.3	Q9H2C0	OTTHUMG00000137627	ENST00000568107.2:c.412C>G	16.37:g.81388139C>G	ENSP00000476795:p.Arg138Gly						p.R138G	NM_022041	NP_071324	Q9H2C0	GAN_HUMAN			3	560	+		Colorectal(91;0.153)	138		R -> H (in GAN).	BACK.			Missense_Mutation	SNP	ENST00000568107.2	37	c.412C>G	CCDS10935.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178606	0.78564	.	.	ENSG00000127688	ENST00000248272	T	0.69561	-0.41	5.86	4.86	0.63082	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.80944	0.4721	M	0.73430	2.235	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.82843	-0.0257	10	0.87932	D	0	.	15.8131	0.78578	0.1365:0.8635:0.0:0.0	.	138	Q9H2C0	GAN_HUMAN	G	138	ENSP00000248272:R138G	ENSP00000248272:R138G	R	+	1	0	GAN	79945640	1.000000	0.71417	0.970000	0.41538	0.753000	0.42808	5.687000	0.68219	2.776000	0.95493	0.655000	0.94253	CGT		0.483	GAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269050.3			4	186	0	0	0	0.00024832	0	4	186				
CDH13	1012	broad.mit.edu	37	16	83781757	83781757	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:83781757C>G	ENST00000566620.1	+	11	1873	c.1583C>G	c.(1582-1584)cCc>cGc	p.P528R	RP11-298D21.1_ENST00000570056.1_RNA|CDH13_ENST00000428848.3_Missense_Mutation_p.P489R|CDH13_ENST00000268613.10_Missense_Mutation_p.P575R|RP11-298D21.1_ENST00000569165.1_RNA|RP11-298D21.1_ENST00000563981.1_RNA	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	528	Cadherin 4. {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.P528R(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AATATTAACCCCATCAATGGG	0.463																																							uc002fgx.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1582-1584)CCC>CGC		cadherin 13 preproprotein							171.0	171.0	171.0					16																	83781757		1959	4156	6115	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.chr16:83781757C>G	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.1583C>G	16.37:g.83781757C>G	ENSP00000454435:p.Pro528Arg					CDH13_uc010vns.1_Missense_Mutation_p.P575R|CDH13_uc010vnt.1_Missense_Mutation_p.P274R|CDH13_uc010vnu.1_Missense_Mutation_p.P489R	p.P528R	NM_001257	NP_001248	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	11	1703	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	528			Cadherin 4.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.1583C>G	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051177	0.75960	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000539548;ENST00000540531	T	0.53640	0.61	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.69097	0.3073	M	0.71296	2.17	0.80722	D	1	P;P;D	0.89917	0.875;0.587;1.0	P;B;D	0.91635	0.627;0.241;0.999	T	0.69308	-0.5179	9	0.51188	T	0.08	.	18.4774	0.90798	0.0:1.0:0.0:0.0	.	489;575;528	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	R	575;528;489;230;87;218	ENSP00000268613:P575R	ENSP00000268613:P575R	P	+	2	0	CDH13	82339258	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.787000	0.75099	2.665000	0.90641	0.655000	0.94253	CCC		0.463	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		5	213	0	0	0	3.59834e-05	0	5	213				
ZNF276	92822	broad.mit.edu	37	16	89788983	89788983	+	Missense_Mutation	SNP	G	G	C	rs200293553		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr16:89788983G>C	ENST00000443381.2	+	2	347	c.250G>C	c.(250-252)Ggg>Cgg	p.G84R	ZNF276_ENST00000289816.5_Missense_Mutation_p.G9R|VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000568064.1_Missense_Mutation_p.G9R|ZNF276_ENST00000446326.2_5'UTR	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	84	ZAD.				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.G9R(1)|p.G84R(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCTCTGCCACGGGAAGTTTTC	0.647																																							uc002fos.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(250-252)GGG>CGG		zinc finger protein 276 isoform a							46.0	51.0	49.0					16																	89788983		2198	4296	6494	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89788983G>C	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.250G>C	16.37:g.89788983G>C	ENSP00000415836:p.Gly84Arg					C16orf7_uc002fol.1_5'Flank|C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.2_5'UTR|ZNF276_uc002fop.2_Missense_Mutation_p.G9R|ZNF276_uc002foq.3_Missense_Mutation_p.G9R|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_5'UTR|ZNF276_uc010cis.2_5'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_5'Flank|ZNF276_uc010cit.1_5'Flank	p.G84R	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	2	347	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	84			ZAD.		Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.250G>C	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	G	35	5.586186	0.96578	.	.	ENSG00000158805	ENST00000289816;ENST00000443381	T;T	0.27557	1.81;1.66	5.27	5.27	0.74061	Zinc finger, AD-type (1);	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.47837	-0.9086	10	0.87932	D	0	-32.5759	17.9137	0.88942	0.0:0.0:1.0:0.0	.	84;9	Q8N554;Q8N554-2	ZN276_HUMAN;.	R	9;84	ENSP00000289816:G9R;ENSP00000415836:G84R	ENSP00000289816:G9R	G	+	1	0	ZNF276	88316484	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	6.823000	0.75282	2.477000	0.83638	0.655000	0.94253	GGG		0.647	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		4	70	0	0	0	0.00024832	0	4	70				
DNAH9	1770	broad.mit.edu	37	17	11572723	11572723	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:11572723C>T	ENST00000262442.4	+	17	3033	c.2965C>T	c.(2965-2967)Cgg>Tgg	p.R989W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R989W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	989	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.R989W(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCAAACATGCGGCGCACACT	0.557																																							uc002gne.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(2965-2967)CGG>TGG		dynein, axonemal, heavy chain 9 isoform 2							52.0	46.0	48.0					17																	11572723		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11572723C>T	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2965C>T	17.37:g.11572723C>T	ENSP00000262442:p.Arg989Trp					DNAH9_uc010coo.2_Missense_Mutation_p.R283W	p.R989W	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	17	3033	+		Breast(5;0.0122)|all_epithelial(5;0.131)	989			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.2965C>T	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247813	0.59103	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.27557	1.71;1.66	4.8	-0.412	0.12367	.	0.000000	0.64402	D	0.000001	T	0.57213	0.2038	M	0.85945	2.785	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.67413	-0.5677	10	0.66056	D	0.02	.	16.419	0.83752	0.4634:0.5366:0.0:0.0	.	989	Q9NYC9	DYH9_HUMAN	W	989	ENSP00000262442:R989W;ENSP00000414874:R989W	ENSP00000262442:R989W	R	+	1	2	DNAH9	11513448	0.995000	0.38212	0.022000	0.16811	0.009000	0.06853	0.564000	0.23563	-0.052000	0.13311	-0.152000	0.13540	CGG		0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		13	9	0	0	0	0.000151284	0	13	9				
LGALS9	3965	broad.mit.edu	37	17	25969281	25969281	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:25969281C>A	ENST00000395473.2	+	4	1819	c.351C>A	c.(349-351)atC>atA	p.I117I	LGALS9_ENST00000310394.5_Silent_p.I117I|LGALS9_ENST00000313648.6_Silent_p.I117I|LGALS9_ENST00000413914.2_Silent_p.I60I|LGALS9_ENST00000302228.5_Silent_p.I117I	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	117	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)	p.I117I(1)		endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		TGAACGGGATCCTCTTCGTGC	0.597																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	uc002gzp.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(349-351)ATC>ATA		galectin-9 isoform long							88.0	63.0	72.0					17																	25969281		2200	4294	6494	SO:0001819	synonymous_variant	3965				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity	g.chr17:25969281C>A	AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.351C>A	17.37:g.25969281C>A						LGALS9_uc002gzq.2_Silent_p.I117I|LGALS9_uc002gzr.2_Silent_p.I60I|LGALS9_uc010waa.1_Silent_p.I60I|LGALS9_uc002gzs.2_Silent_p.I117I	p.I117I	NM_009587	NP_033665	O00182	LEG9_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)	4	469	+	Lung NSC(42;0.0103)		117			Galectin 1.		A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Silent	SNP	ENST00000395473.2	37	c.351C>A	CCDS11222.1																																																																																				0.597	LGALS9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255583.1	NM_009587		17	10	1	0	4.43304e-23	0.000147802	1.11719e-21	17	10				
SUPT6H	6830	broad.mit.edu	37	17	27014204	27014204	+	Silent	SNP	C	C	A	rs145262815		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:27014204C>A	ENST00000314616.6	+	22	3082	c.2799C>A	c.(2797-2799)tcC>tcA	p.S933S	SUPT6H_ENST00000347486.4_Silent_p.S933S	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	933	Interaction with KDM6A. {ECO:0000250}.				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.S933S(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)					TGTGCAGTTCCGATGAAGACA	0.562																																							uc002hby.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(2797-2799)TCC>TCA		suppressor of Ty 6 homolog							99.0	110.0	107.0					17																	27014204		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.chr17:27014204C>A	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.2799C>A	17.37:g.27014204C>A						SUPT6H_uc010crt.2_Silent_p.S933S|SUPT6H_uc002hbz.1_5'Flank	p.S933S	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			22	2889	+	Lung NSC(42;0.00431)		933					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Silent	SNP	ENST00000314616.6	37	c.2799C>A	CCDS32596.1																																																																																				0.562	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		6	150	1	0	0.000157383	0.000157383	0.00327129	6	150				
NUFIP2	57532	broad.mit.edu	37	17	27613442	27613442	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:27613442C>A	ENST00000225388.4	-	2	1628	c.1570G>T	c.(1570-1572)Ggg>Tgg	p.G524W	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	524						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G524W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GATGACTTCCCAGTAACAGTC	0.458																																							uc002hdy.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(1570-1572)GGG>TGG		nuclear fragile X mental retardation protein							73.0	72.0	72.0					17																	27613442		2203	4300	6503	SO:0001583	missense	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27613442C>A	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.1570G>T	17.37:g.27613442C>A	ENSP00000225388:p.Gly524Trp					NUFIP2_uc002hdx.3_Intron	p.G524W	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	1659	-			524					A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.1570G>T	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587314	0.46110	.	.	ENSG00000108256	ENST00000225388	.	.	.	6.17	5.21	0.72293	.	0.143318	0.49916	D	0.000128	T	0.52240	0.1722	L	0.27053	0.805	0.80722	D	1	D	0.59357	0.985	P	0.52267	0.694	T	0.57900	-0.7731	9	0.72032	D	0.01	-1.9074	15.336	0.74255	0.0:0.9338:0.0:0.0662	.	524	Q7Z417	NUFP2_HUMAN	W	524	.	ENSP00000225388:G524W	G	-	1	0	NUFIP2	24637568	0.967000	0.33354	0.985000	0.45067	0.968000	0.65278	1.849000	0.39318	1.630000	0.50440	0.655000	0.94253	GGG		0.458	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		6	84	1	0	8.12818e-05	8.12818e-05	0.00171015	6	84				
TCAP	8557	broad.mit.edu	37	17	37821714	37821714	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:37821714C>G	ENST00000309889.2	+	1	1275	c.102C>G	c.(100-102)ccC>ccG	p.P34P	TCAP_ENST00000578283.1_Silent_p.P34P|PNMT_ENST00000394246.1_5'Flank|PNMT_ENST00000269582.2_5'Flank			O15273	TELT_HUMAN	titin-cap	34					adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.P34P(1)		kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCACACGGCCCGAGGAGGGGT	0.617																																							uc002hsh.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(100-102)CCC>CCG		telethonin							74.0	71.0	72.0					17																	37821714		2203	4300	6503	SO:0001819	synonymous_variant	8557				adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	g.chr17:37821714C>G	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"""19 kDa sarcomeric protein"""	604488	"""limb girdle muscular dystrophy 2G (autosomal recessive)"", ""titin-cap (telethonin)"""	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.102C>G	17.37:g.37821714C>G						PNMT_uc002hsi.1_5'Flank	p.P34P	NM_003673	NP_003664	O15273	TELT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		1	116	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		34					Q96L27	Silent	SNP	ENST00000309889.2	37	c.102C>G	CCDS11342.1																																																																																				0.617	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673		3	29	0	0	0	6.4e-05	0	3	29				
THRA	7067	broad.mit.edu	37	17	38244622	38244622	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:38244622G>C	ENST00000264637.4	+	8	1431	c.851G>C	c.(850-852)cGg>cCg	p.R284P	THRA_ENST00000584985.1_Missense_Mutation_p.R284P|THRA_ENST00000450525.2_Missense_Mutation_p.R284P|THRA_ENST00000546243.1_Missense_Mutation_p.R284P|THRA_ENST00000394121.4_Missense_Mutation_p.R284P	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	284	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R284P(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GCTGTCAAGCGGGAGCAGCTC	0.607																																							uc002htw.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(850-852)CGG>CCG		thyroid hormone receptor, alpha isoform 2	Levothyroxine(DB00451)|Liothyronine(DB00279)						103.0	96.0	98.0					17																	38244622		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38244622G>C	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.851G>C	17.37:g.38244622G>C	ENSP00000264637:p.Arg284Pro					THRA_uc010cwp.1_Missense_Mutation_p.R284P|THRA_uc002htv.2_Missense_Mutation_p.R284P|THRA_uc002htx.2_Missense_Mutation_p.R284P	p.R284P	NM_003250	NP_003241	P10827	THA_HUMAN			8	1334	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	284			Ligand-binding.		A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.851G>C	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	g	29.3	4.994992	0.93167	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.96856	-4.15;-4.15;-4.15;-4.15	4.97	4.97	0.65823	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97651	0.9230	M	0.66378	2.025	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.997	D;D;P	0.72075	0.976;0.971;0.839	D	0.98593	1.0655	10	0.87932	D	0	.	17.0857	0.86611	0.0:0.0:1.0:0.0	.	284;284;284	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	P	284	ENSP00000377679:R284P;ENSP00000264637:R284P;ENSP00000395641:R284P;ENSP00000443972:R284P	ENSP00000264637:R284P	R	+	2	0	THRA	35498148	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.956000	0.87863	2.304000	0.77564	0.486000	0.48141	CGG		0.607	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			4	48	0	0	0	0.00024832	0	4	48				
G6PC	2538	broad.mit.edu	37	17	41052971	41052971	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:41052971C>T	ENST00000253801.2	+	1	157	c.78C>T	c.(76-78)tcC>tcT	p.S26S	G6PC_ENST00000585489.1_Silent_p.S26S|G6PC_ENST00000592383.1_Silent_p.S26S|LINC00671_ENST00000301683.3_lincRNA	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	26					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.S26S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ACCAAGACTCCCAGGACTGGT	0.502																																							uc002icb.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(76-78)TCC>TCT		glucose-6-phosphatase, catalytic subunit							135.0	108.0	117.0					17																	41052971		2203	4300	6503	SO:0001819	synonymous_variant	2538	Glycogen_Storage_Disease_type_Ia			gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41052971C>T	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.78C>T	17.37:g.41052971C>T						LOC388387_uc002ibz.2_5'Flank|LOC388387_uc002iby.2_5'Flank|LOC388387_uc002ica.2_5'Flank|LOC388387_uc010whe.1_5'Flank|G6PC_uc010whf.1_Silent_p.S28S	p.S26S	NM_000151	NP_000142	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	1	157	+		Breast(137;0.000143)	26			Lumenal (Potential).		A1L4C0|B4E1C3|K7EL82	Silent	SNP	ENST00000253801.2	37	c.78C>T	CCDS11446.1																																																																																				0.502	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151		43	28	0	0	0	0.000374591	0	43	28				
NAGS	162417	broad.mit.edu	37	17	42082136	42082136	+	Silent	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:42082136G>A	ENST00000293404.3	+	1	223	c.105G>A	c.(103-105)gcG>gcA	p.A35A	PYY_ENST00000360085.2_5'Flank	NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	35	Amino-acid kinase domain (AAK).				arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial matrix (GO:0005759)	acetyl-CoA:L-glutamate N-acetyltransferase activity (GO:0004042)	p.A35A(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCTGTggcgcgcggcggcggg	0.786																																							uc002ies.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(103-105)GCG>GCA		N-acetylglutamate synthase	L-Glutamic Acid(DB00142)						5.0	8.0	7.0					17																	42082136		1675	3605	5280	SO:0001819	synonymous_variant	162417				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity	g.chr17:42082136G>A	AY116537	CCDS11473.1	17q21.31	2008-02-05				ENSG00000161653			17996	protein-coding gene	gene with protein product		608300				15050968, 12459178	Standard	NM_153006		Approved	AGAS, ARGA, NAT7	uc002ies.3	Q8N159		ENST00000293404.3:c.105G>A	17.37:g.42082136G>A						PYY_uc002ieq.2_5'Flank|NAGS_uc010czn.2_Silent_p.A35A|NAGS_uc002iet.2_5'Flank	p.A35A	NM_153006	NP_694551	Q8N159	NAGS_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	1	105	+		Breast(137;0.00536)|Prostate(33;0.0724)	35					B2RAZ9|Q8IWR4	Silent	SNP	ENST00000293404.3	37	c.105G>A	CCDS11473.1																																																																																				0.786	NAGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457660.1	NM_153006		6	6	0	0	0	3.59834e-05	0	6	6				
ZNF652	22834	broad.mit.edu	37	17	47390144	47390144	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:47390144G>C	ENST00000362063.2	-	3	1282	c.964C>G	c.(964-966)Cat>Gat	p.H322D	ZNF652_ENST00000430262.2_Missense_Mutation_p.H322D	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	322					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.H322D(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GCATATCCATGGACGATCTTG	0.368																																							uc002iov.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(964-966)CAT>GAT		zinc finger protein 652							85.0	85.0	85.0					17																	47390144		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47390144G>C	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.964C>G	17.37:g.47390144G>C	ENSP00000354686:p.His322Asp					ZNF652_uc002iow.2_Missense_Mutation_p.H322D|ZNF652_uc002iou.3_RNA	p.H322D	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		3	1428	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		322			C2H2-type 3.		A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.964C>G	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632362	0.87660	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	D;D	0.81908	-1.55;-1.55	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	D	0.90947	0.7154	M	0.71206	2.165	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.90754	0.4659	10	0.56958	D	0.05	-12.5577	19.3691	0.94477	0.0:0.0:1.0:0.0	.	322	Q9Y2D9	ZN652_HUMAN	D	322	ENSP00000354686:H322D;ENSP00000416305:H322D	ENSP00000354686:H322D	H	-	1	0	ZNF652	44745143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.679000	0.91253	0.591000	0.81541	CAT		0.368	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		4	66	0	0	0	1.23904e-05	0	4	66				
GRB2	2885	broad.mit.edu	37	17	73316467	73316467	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:73316467G>C	ENST00000392562.1	-	6	1418	c.636C>G	c.(634-636)ccC>ccG	p.P212P	GRB2_ENST00000392564.1_Silent_p.P212P|GRB2_ENST00000316804.5_Silent_p.P212P|GRB2_ENST00000316615.5_Silent_p.P171P|GRB2_ENST00000392563.1_Silent_p.P171P|GRB2_ENST00000578961.1_Missense_Mutation_p.P156R|GRB2_ENST00000462266.1_5'UTR			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	212	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.P212P(2)		breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TCCGGTTCACGGGGGTGACAT	0.453																																							uc002jnx.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(634-636)CCC>CCG		growth factor receptor-bound protein 2 isoform	Pegademase bovine(DB00061)						152.0	164.0	160.0					17																	73316467		2203	4300	6503	SO:0001819	synonymous_variant	2885				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	g.chr17:73316467G>C		CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"""SH2 domain containing"""	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.636C>G	17.37:g.73316467G>C						GRB2_uc002jny.3_Silent_p.P171P	p.P212P	NM_002086	NP_002077	P62993	GRB2_HUMAN	all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		6	993	-	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		212			SH3 2.		P29354|Q14450|Q63057|Q63059	Silent	SNP	ENST00000392562.1	37	c.636C>G	CCDS11721.1																																																																																				0.453	GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1			5	216	0	0	0	3.59834e-05	0	5	216				
UBE2O	63893	broad.mit.edu	37	17	74392594	74392594	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:74392594G>C	ENST00000319380.7	-	14	2488	c.2424C>G	c.(2422-2424)ccC>ccG	p.P808P	UBE2O_ENST00000587581.1_5'Flank	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	808					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.P808P(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GGAAGCTCTTGGGTGGCCCGT	0.632																																							uc002jrm.3		NA																	2	Substitution - coding silent(2)		lung(2)	breast(2)|skin(2)|lung(1)	5						c.(2422-2424)CCC>CCG		ubiquitin-conjugating enzyme E2O							114.0	123.0	120.0					17																	74392594		2203	4300	6503	SO:0001819	synonymous_variant	63893						ATP binding|ubiquitin-protein ligase activity	g.chr17:74392594G>C	AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2424C>G	17.37:g.74392594G>C						UBE2O_uc002jrn.3_Silent_p.P808P|UBE2O_uc002jrl.3_Silent_p.P412P	p.P808P	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN			14	2489	-			808					A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Silent	SNP	ENST00000319380.7	37	c.2424C>G	CCDS32742.1																																																																																				0.632	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450123.1	NM_022066		5	145	0	0	0	8.12818e-05	0	5	145				
CBX8	57332	broad.mit.edu	37	17	77768512	77768512	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:77768512C>G	ENST00000269385.4	-	5	1209	c.1092G>C	c.(1090-1092)acG>acC	p.T364T	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	364					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)	p.T364T(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AGGTCACGTCCGTGACCACCA	0.547																																							uc002jxd.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1090-1092)ACG>ACC		chromobox homolog 8							97.0	108.0	105.0					17																	77768512		2203	4300	6503	SO:0001819	synonymous_variant	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77768512C>G	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.1092G>C	17.37:g.77768512C>G							p.T364T	NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1185	-			364					Q96H39|Q9NR07	Silent	SNP	ENST00000269385.4	37	c.1092G>C	CCDS11765.1																																																																																				0.547	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649		4	127	0	0	0	1.23904e-05	0	4	127				
OXLD1	339229	broad.mit.edu	37	17	79632502	79632502	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:79632502C>G	ENST00000374741.3	-	2	183	c.173G>C	c.(172-174)gGg>gCg	p.G58A	OXLD1_ENST00000573786.1_5'UTR|OXLD1_ENST00000571503.1_3'UTR|PDE6G_ENST00000574777.1_5'Flank|PDE6G_ENST00000571224.1_5'Flank|CCDC137_ENST00000329214.8_5'Flank	NM_001039842.1	NP_001034931.1	Q5BKU9	OXLD1_HUMAN	oxidoreductase-like domain containing 1	58						mitochondrion (GO:0005739)		p.G58A(1)									GTGGTCTGTCCCGAATTTTCT	0.647																																							uc002kba.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(172-174)GGG>GCG		hypothetical protein LOC339229							42.0	43.0	43.0					17																	79632502		2203	4300	6503	SO:0001583	missense	339229							g.chr17:79632502C>G		CCDS32766.1	17q25.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000204237	ENSG00000204237			27901	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 90"""	C17orf90			Standard	NM_001039842		Approved	MGC104712	uc002kba.3	Q5BKU9	OTTHUMG00000178063	ENST00000374741.3:c.173G>C	17.37:g.79632502C>G	ENSP00000363873:p.Gly58Ala					C17orf90_uc002kbb.2_3'UTR|CCDC137_uc002kbc.3_5'Flank|CCDC137_uc002kbd.2_5'Flank	p.G58A	NM_001039842	NP_001034931	Q5BKU9	CQ090_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		2	184	-	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		58					A6ND24	Missense_Mutation	SNP	ENST00000374741.3	37	c.173G>C	CCDS32766.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240340	0.39598	.	.	ENSG00000204237	ENST00000374741	.	.	.	4.57	2.54	0.30619	.	0.870303	0.09728	N	0.763543	T	0.28995	0.0720	L	0.32530	0.975	0.09310	N	0.999999	B	0.28082	0.2	B	0.24701	0.055	T	0.22695	-1.0209	9	0.35671	T	0.21	3.4241	5.1023	0.14766	0.0:0.6352:0.1734:0.1915	.	58	Q5BKU9	CQ090_HUMAN	A	58	.	ENSP00000363873:G58A	G	-	2	0	C17orf90	77242907	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.184000	0.16939	0.464000	0.27142	0.655000	0.94253	GGG		0.647	OXLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440380.1	NM_001039842		3	22	0	0	0	6.4e-05	0	3	22				
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000357775.5_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547																																							uc002koi.3		NA																	4	Substitution - Missense(4)		urinary_tract(2)|lung(2)	ovary(1)|pancreas(1)	2						c.(418-420)AAA>GAA		thioredoxin domain-containing 2 isoform 2							133.0	131.0	132.0					18																	9886894		2203	4300	6503	SO:0001583	missense	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886894A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.418A>G	18.37:g.9886894A>G	ENSP00000304908:p.Lys140Glu					TXNDC2_uc010wzq.1_RNA|TXNDC2_uc002koh.3_Missense_Mutation_p.K73E	p.K140E	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN			2	867	+			140			2.|22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.418A>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	a	8.625	0.892206	0.17613	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.20069	2.1;2.3;2.3	3.48	-6.96	0.01622	.	1.199930	0.06365	N	0.712409	T	0.12774	0.0310	L	0.35854	1.095	0.09310	N	1	B	0.25048	0.117	B	0.25884	0.064	T	0.32693	-0.9897	9	.	.	.	.	5.8007	0.18412	0.5013:0.2415:0.2572:0.0	.	140	Q86VQ3	TXND2_HUMAN	E	73;73;140;140	ENSP00000437393:K73E;ENSP00000350419:K73E;ENSP00000304908:K140E	.	K	+	1	0	TXNDC2	9876894	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.892000	0.04131	-1.042000	0.03262	-1.380000	0.01176	AAA		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			4	59	0	0	0	1.23904e-05	0	4	59				
MC5R	4161	broad.mit.edu	37	18	13826264	13826264	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:13826264G>C	ENST00000324750.3	+	1	722	c.500G>C	c.(499-501)tGg>tCg	p.W167S	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	167					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.W167S(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCCGGCATCTGGGCTTTCTGC	0.572																																							uc010xaf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(1)	6						c.(499-501)TGG>TCG		melanocortin 5 receptor							290.0	262.0	271.0					18																	13826264		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826264G>C	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.500G>C	18.37:g.13826264G>C	ENSP00000318077:p.Trp167Ser						p.W167S	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	500	+			167			Helical; Name=4; (Potential).		B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.500G>C	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718092	0.48622	.	.	ENSG00000176136	ENST00000324750	D	0.88896	-2.44	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.96911	0.8991	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98773	1.0729	10	0.87932	D	0	.	17.287	0.87145	0.0:0.0:1.0:0.0	.	167	P33032	MC5R_HUMAN	S	167	ENSP00000318077:W167S	ENSP00000318077:W167S	W	+	2	0	MC5R	13816264	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	9.353000	0.97080	2.311000	0.77944	0.455000	0.32223	TGG		0.572	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		6	300	0	0	0	8.12818e-05	0	6	300				
MC5R	4161	broad.mit.edu	37	18	13826433	13826433	+	Silent	SNP	C	C	G	rs142471410		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:13826433C>G	ENST00000324750.3	+	1	891	c.669C>G	c.(667-669)ccC>ccG	p.P223P	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	223				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). {ECO:0000305}.	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.P223P(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CGGCTCTGCCCGGGGCCAGCT	0.622																																							uc010xaf.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|breast(1)	6						c.(667-669)CCC>CCG		melanocortin 5 receptor							233.0	201.0	212.0					18																	13826433		2203	4300	6503	SO:0001819	synonymous_variant	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826433C>G	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.669C>G	18.37:g.13826433C>G							p.P223P	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	669	+			223	ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).		Cytoplasmic (Potential).		B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	c.669C>G	CCDS11868.1																																																																																				0.622	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		5	182	0	0	0	1.23904e-05	0	5	182				
HRH4	59340	broad.mit.edu	37	18	22048811	22048811	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:22048811G>T	ENST00000256906.4	+	2	353	c.253G>T	c.(253-255)Gaa>Taa	p.E85*	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	85					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.E85*(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	TTTTGGAAAGGAAATCTGTGT	0.408																																							uc002kvi.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(253-255)GAA>TAA		histamine H4 receptor isoform 1	Clozapine(DB00363)						241.0	196.0	211.0					18																	22048811		2203	4300	6503	SO:0001587	stop_gained	59340					integral to membrane|plasma membrane	histamine receptor activity	g.chr18:22048811G>T	AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.253G>T	18.37:g.22048811G>T	ENSP00000256906:p.Glu85*					HRH4_uc010xbd.1_Intron|HRH4_uc010dlx.2_Intron	p.E85*	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN			2	353	+	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		85			Extracellular (Potential).		B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Nonsense_Mutation	SNP	ENST00000256906.4	37	c.253G>T	CCDS11887.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.716123	0.68844	.	.	ENSG00000134489	ENST00000256906	.	.	.	5.63	-1.49	0.08718	.	1.012730	0.07923	N	0.976258	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	0.3107	2.0677	0.03606	0.264:0.3849:0.2288:0.1223	.	.	.	.	X	85	.	ENSP00000256906:E85X	E	+	1	0	HRH4	20302809	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.010000	0.12743	-0.312000	0.08741	-0.136000	0.14681	GAA		0.408	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254904.1			29	75	1	0	1.13719e-10	0.000227799	2.61668e-09	29	75				
ZNF521	25925	broad.mit.edu	37	18	22805988	22805988	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:22805988C>G	ENST00000361524.3	-	4	2042	c.1894G>C	c.(1894-1896)Gga>Cga	p.G632R	ZNF521_ENST00000584787.1_Missense_Mutation_p.G412R|ZNF521_ENST00000538137.2_Missense_Mutation_p.G632R|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	632					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.G632R(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ATATATTCTCCAGTGGGACGT	0.473			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(1894-1896)GGA>CGA		zinc finger protein 521							129.0	118.0	122.0					18																	22805988		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805988C>G	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1894G>C	18.37:g.22805988C>G	ENSP00000354794:p.Gly632Arg					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.G632R|ZNF521_uc002kvl.2_Missense_Mutation_p.G412R	p.G632R	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	2141	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		632					A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1894G>C	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	7.468	0.646140	0.14451	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.10005	2.92;2.95	6.16	6.16	0.99307	.	0.102918	0.64402	D	0.000002	T	0.23014	0.0556	L	0.27053	0.805	0.47905	D	0.999548	D	0.62365	0.991	D	0.63192	0.912	T	0.00252	-1.1876	10	0.72032	D	0.01	-16.0435	20.8598	0.99761	0.0:1.0:0.0:0.0	.	632	Q96K83	ZN521_HUMAN	R	632;666;632	ENSP00000354794:G632R;ENSP00000382352:G632R	ENSP00000354794:G632R	G	-	1	0	ZNF521	21059986	1.000000	0.71417	0.971000	0.41717	0.984000	0.73092	4.641000	0.61375	2.937000	0.99478	0.650000	0.86243	GGA		0.473	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		7	556	0	0	0	0.000274275	0	7	556				
ASXL3	80816	broad.mit.edu	37	18	31319522	31319522	+	Silent	SNP	G	G	A	rs370185733		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:31319522G>A	ENST00000269197.5	+	11	2154	c.2154G>A	c.(2152-2154)ccG>ccA	p.P718P		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	718	Ser-rich.				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.P425P(1)|p.P718P(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAACCTCACCGATGTCTGACT	0.403																																							uc010dmg.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(2152-2154)CCG>CCA		additional sex combs like 3							283.0	279.0	280.0					18																	31319522		1923	4146	6069	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31319522G>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.2154G>A	18.37:g.31319522G>A						ASXL3_uc002kxq.2_Silent_p.P425P	p.P718P	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			11	2209	+			718			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.2154G>A	CCDS45847.1																																																																																				0.403	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			203	333	0	0	0	0.000147903	0	203	333				
ASXL3	80816	broad.mit.edu	37	18	31325208	31325208	+	Missense_Mutation	SNP	C	C	A	rs374153290		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:31325208C>A	ENST00000269197.5	+	12	5396	c.5396C>A	c.(5395-5397)cCg>cAg	p.P1799Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1799					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.P1799Q(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTTGAAATTCCGCCCAGCTCT	0.498																																							uc010dmg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(5395-5397)CCG>CAG		additional sex combs like 3							85.0	84.0	84.0					18																	31325208		1884	4118	6002	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325208C>A	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5396C>A	18.37:g.31325208C>A	ENSP00000269197:p.Pro1799Gln					ASXL3_uc002kxq.2_Missense_Mutation_p.P1506Q	p.P1799Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	5451	+			1799					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5396C>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	16.57	3.159993	0.57368	.	.	ENSG00000141431	ENST00000269197	T	0.14640	2.49	5.7	5.7	0.88788	.	.	.	.	.	T	0.23886	0.0578	N	0.24115	0.695	0.43271	D	0.99522	D	0.63046	0.992	P	0.59703	0.862	T	0.01143	-1.1438	9	0.66056	D	0.02	.	19.8478	0.96722	0.0:1.0:0.0:0.0	.	1799	Q9C0F0	ASXL3_HUMAN	Q	1799	ENSP00000269197:P1799Q	ENSP00000269197:P1799Q	P	+	2	0	ASXL3	29579206	1.000000	0.71417	0.987000	0.45799	0.580000	0.36256	4.941000	0.63540	2.698000	0.92095	0.655000	0.94253	CCG		0.498	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			44	59	1	0	4.01765e-15	0.000437636	9.548e-14	44	59				
C18orf21	83608	broad.mit.edu	37	18	33554959	33554959	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:33554959C>A	ENST00000592875.1	+	3	847	c.201C>A	c.(199-201)ccC>ccA	p.P67P	C18orf21_ENST00000333234.5_5'UTR	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	67										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						GGTTGACACCCAAAATACAGA	0.393																																							uc002kzc.2		NA																	0					0						c.(199-201)CCC>CCA		chromosome 18 open reading frame 21							97.0	99.0	98.0					18																	33554959		2203	4300	6503	SO:0001819	synonymous_variant	83608							g.chr18:33554959C>A	BC025950	CCDS11916.2, CCDS56064.1, CCDS74212.1	18q12.2	2004-05-05			ENSG00000141428	ENSG00000141428			28802	protein-coding gene	gene with protein product						12477932	Standard	NM_031446		Approved	PNAS-131, PNAS-124, HsT3108	uc002kzc.3	Q32NC0	OTTHUMG00000128531	ENST00000592875.1:c.201C>A	18.37:g.33554959C>A						C18orf21_uc002kzd.2_5'UTR	p.P67P	NM_031446	NP_113634	Q32NC0	CR021_HUMAN			3	305	+			67					Q6GW03|Q9BXV6|Q9BXW2	Silent	SNP	ENST00000592875.1	37	c.201C>A	CCDS11916.2																																																																																				0.393	C18orf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250364.1	NM_031446		9	139	1	0	0.000442599	0.000442599	0.00887779	9	139				
SYT4	6860	broad.mit.edu	37	18	40854018	40854018	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:40854018A>G	ENST00000255224.3	-	2	744	c.376T>C	c.(376-378)Ttt>Ctt	p.F126L	SYT4_ENST00000590752.1_Missense_Mutation_p.F108L|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	126					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.F126L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CCTTCTAAAAAGAGCTTCGGG	0.443																																					NSCLC(85;81 1419 2855 22820 35912)	NSCLC(85;81 1419 2855 22820 35912)	uc002law.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(5)	5						c.(376-378)TTT>CTT		synaptotagmin IV							89.0	89.0	89.0					18																	40854018		2202	4299	6501	SO:0001583	missense	6860					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity	g.chr18:40854018A>G	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.376T>C	18.37:g.40854018A>G	ENSP00000255224:p.Phe126Leu					SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.F108L|SYT4_uc010dnh.2_Intron	p.F126L	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN			2	745	-			126			Cytoplasmic (Potential).		B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	37	c.376T>C	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	A	4.190	0.033880	0.08101	.	.	ENSG00000132872	ENST00000255224	T	0.35973	1.28	5.87	3.48	0.39840	.	0.375399	0.33650	N	0.004700	T	0.21387	0.0515	N	0.25144	0.715	0.30648	N	0.755748	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16808	-1.0390	10	0.21014	T	0.42	.	8.2891	0.31948	0.8162:0.0:0.0644:0.1194	.	108;126	B4DEU3;Q9H2B2	.;SYT4_HUMAN	L	126	ENSP00000255224:F126L	ENSP00000255224:F126L	F	-	1	0	SYT4	39108016	0.959000	0.32827	0.562000	0.28370	0.722000	0.41435	3.656000	0.54467	0.557000	0.29117	-0.301000	0.09380	TTT		0.443	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783		4	80	0	0	0	1.23904e-05	0	4	80				
EPG5	57724	broad.mit.edu	37	18	43459085	43459085	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:43459085C>A	ENST00000282041.5	-	33	5796	c.5762G>T	c.(5761-5763)aGt>aTt	p.S1921I	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1921					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.S1921I(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CATATAAGGACTCCATTTTGA	0.413																																							uc002lbm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(5761-5763)AGT>ATT		hypothetical protein LOC57724							101.0	98.0	99.0					18																	43459085		1839	4100	5939	SO:0001583	missense	57724				autophagy			g.chr18:43459085C>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.5762G>T	18.37:g.43459085C>A	ENSP00000282041:p.Ser1921Ile					KIAA1632_uc010xcq.1_Missense_Mutation_p.S475I|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.S796I	p.S1921I	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			33	5862	-			1921					A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	c.5762G>T	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	12.87	2.069005	0.36470	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.10763	2.84	5.25	1.12	0.20585	.	.	.	.	.	T	0.09818	0.0241	L	0.50333	1.59	0.32246	N	0.572081	P	0.37636	0.603	B	0.30495	0.116	T	0.11591	-1.0581	9	0.56958	D	0.05	-2.3894	10.681	0.45815	0.0:0.6505:0.1371:0.2124	.	1921	Q9HCE0	EPG5_HUMAN	I	1921;796	ENSP00000282041:S1921I	ENSP00000282041:S1921I	S	-	2	0	EPG5	41713083	0.240000	0.23847	0.999000	0.59377	0.997000	0.91878	0.159000	0.16442	0.233000	0.21120	0.563000	0.77884	AGT		0.413	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964		50	98	1	0	4.78724e-31	0.000147903	1.24523e-29	50	98				
RNF165	494470	broad.mit.edu	37	18	44030290	44030290	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:44030290C>G	ENST00000269439.7	+	5	698	c.647C>G	c.(646-648)cCt>cGt	p.P216R	RNF165_ENST00000543885.1_Missense_Mutation_p.P24R	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	216							zinc ion binding (GO:0008270)	p.P216R(1)		NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		TACCCTTACCCTCAGCTTCAC	0.512																																							uc002lcb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(646-648)CCT>CGT		ring finger protein 165							148.0	128.0	135.0					18																	44030290		2203	4300	6503	SO:0001583	missense	494470						zinc ion binding	g.chr18:44030290C>G	BC012190	CCDS32823.1, CCDS58621.1	18q21.1	2014-01-03			ENSG00000141622	ENSG00000141622		"""RING-type (C3HC4) zinc fingers"""	31696	protein-coding gene	gene with protein product							Standard	NR_046357		Approved	ARKL2, RNF111L2	uc002lcb.1	Q6ZSG1		ENST00000269439.7:c.647C>G	18.37:g.44030290C>G	ENSP00000269439:p.Pro216Arg					RNF165_uc002lby.1_Missense_Mutation_p.P149R|RNF165_uc010dnn.1_Missense_Mutation_p.P12R	p.P216R	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN		READ - Rectum adenocarcinoma(1;0.0873)	5	698	+			216					B3KVD1	Missense_Mutation	SNP	ENST00000269439.7	37	c.647C>G	CCDS32823.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871522	0.91587	.	.	ENSG00000141622	ENST00000269439;ENST00000543885	T;T	0.24538	2.06;1.85	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.48786	0.1519	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.35375	-0.9791	10	0.08837	T	0.75	.	19.5567	0.95351	0.0:1.0:0.0:0.0	.	216	Q6ZSG1	RN165_HUMAN	R	216;24	ENSP00000269439:P216R;ENSP00000444285:P24R	ENSP00000269439:P216R	P	+	2	0	RNF165	42284288	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.445000	0.80570	2.711000	0.92665	0.563000	0.77884	CCT		0.512	RNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445358.1	NM_152470		20	46	0	0	0	0.000295444	0	20	46				
TCEB3C	162699	broad.mit.edu	37	18	44554643	44554643	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:44554643G>T	ENST00000330682.2	-	1	1806	c.1571C>A	c.(1570-1572)gCt>gAt	p.A524D	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	524					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A524D(2)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTTCTTGGCAGCCTGTTTTCG	0.637																																							uc010xdb.1		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(1570-1572)GCT>GAT		transcription elongation factor B polypeptide							4.0	2.0	3.0					18																	44554643		695	1311	2006	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44554643G>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1571C>A	18.37:g.44554643G>T	ENSP00000328232:p.Ala524Asp					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.A524D	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			1	1807	-			524						Missense_Mutation	SNP	ENST00000330682.2	37	c.1571C>A	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	g	12.77	2.036750	0.35893	.	.	ENSG00000183791	ENST00000330682	T	0.12672	2.66	1.16	0.148	0.14843	.	1.337000	0.05719	U	0.597417	T	0.12944	0.0314	L	0.47716	1.5	0.09310	N	1	D	0.56287	0.975	B	0.42522	0.39	T	0.26155	-1.0111	10	0.48119	T	0.1	-0.5761	4.2715	0.10789	0.0:0.0:0.6062:0.3938	.	524	Q8NG57	ELOA3_HUMAN	D	524	ENSP00000328232:A524D	ENSP00000328232:A524D	A	-	2	0	TCEB3C	42808641	0.017000	0.18338	0.000000	0.03702	0.016000	0.09150	2.042000	0.41222	0.038000	0.15604	0.485000	0.47835	GCT		0.637	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		19	385	1	0	1.55469e-16	0.00047179	3.75309e-15	19	385				
CFAP53	220136	broad.mit.edu	37	18	47753912	47753912	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:47753912G>T	ENST00000398545.4	-	8	1501	c.1384C>A	c.(1384-1386)Caa>Aaa	p.Q462K		NM_145020.3	NP_659457.2												p.Q462K(1)		endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TCTGCTTCTTGGGACTGCTGC	0.468																																							uc002lee.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1384-1386)CAA>AAA		coiled-coil domain containing 11							239.0	236.0	237.0					18																	47753912		2006	4170	6176	SO:0001583	missense	220136							g.chr18:47753912G>T																												ENST00000398545.4:c.1384C>A	18.37:g.47753912G>T	ENSP00000381553:p.Gln462Lys						p.Q462K	NM_145020	NP_659457	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	8	1475	-			462			Potential.			Missense_Mutation	SNP	ENST00000398545.4	37	c.1384C>A	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	G	14.94	2.683924	0.47991	.	.	ENSG00000172361	ENST00000398545	T	0.07800	3.16	5.39	5.39	0.77823	.	0.137913	0.49305	D	0.000156	T	0.04497	0.0123	N	0.03608	-0.345	0.23997	N	0.99623	B	0.19073	0.033	B	0.17098	0.017	T	0.42327	-0.9458	10	0.23302	T	0.38	-1.3289	15.0012	0.71473	0.0:0.0:1.0:0.0	.	462	Q96M91	CCD11_HUMAN	K	462	ENSP00000381553:Q462K	ENSP00000381553:Q462K	Q	-	1	0	CCDC11	46007910	0.974000	0.33945	1.000000	0.80357	0.929000	0.56500	2.207000	0.42788	2.693000	0.91896	0.655000	0.94253	CAA		0.468	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			13	355	1	0	7.07596e-05	7.07596e-05	0.00149793	13	355				
ME2	4200	broad.mit.edu	37	18	48450553	48450553	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:48450553T>C	ENST00000321341.5	+	11	1414	c.1142T>C	c.(1141-1143)gTg>gCg	p.V381A	ME2_ENST00000382927.3_Missense_Mutation_p.V381A	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	381					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.V381A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		GAAGATGCAGTGAATATACTG	0.358																																							uc002ley.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1141-1143)GTG>GCG		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						97.0	96.0	96.0					18																	48450553		2203	4300	6503	SO:0001583	missense	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48450553T>C	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.1142T>C	18.37:g.48450553T>C	ENSP00000321070:p.Val381Ala					ME2_uc010dpd.2_Missense_Mutation_p.V381A	p.V381A	NM_002396	NP_002387	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	11	1398	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	381					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Missense_Mutation	SNP	ENST00000321341.5	37	c.1142T>C	CCDS11948.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.653015	0.67472	.	.	ENSG00000082212	ENST00000321341;ENST00000382927	T;T	0.38722	1.12;1.12	5.44	5.44	0.79542	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.71099	0.3300	M	0.92604	3.325	0.80722	D	1	D;D	0.61697	0.976;0.99	D;D	0.72982	0.936;0.979	T	0.78521	-0.2172	10	0.72032	D	0.01	-28.0563	13.3086	0.60368	0.0:0.0:0.0:1.0	.	381;381	Q9BWL6;P23368	.;MAOM_HUMAN	A	381	ENSP00000321070:V381A;ENSP00000372384:V381A	ENSP00000321070:V381A	V	+	2	0	ME2	46704551	1.000000	0.71417	0.997000	0.53966	0.458000	0.32498	6.221000	0.72243	2.194000	0.70268	0.459000	0.35465	GTG		0.358	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		24	63	0	0	0	0.000117367	0	24	63				
DCC	1630	broad.mit.edu	37	18	50734108	50734108	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:50734108T>A	ENST00000442544.2	+	11	2398	c.1782T>A	c.(1780-1782)taT>taA	p.Y594*	DCC_ENST00000412726.1_Nonsense_Mutation_p.Y442*|DCC_ENST00000581580.1_Nonsense_Mutation_p.Y249*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	594	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.Y594*(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCACCGAATATAGTCTTCGAT	0.378																																							uc002lfe.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(1780-1782)TAT>TAA		netrin receptor DCC precursor							148.0	153.0	151.0					18																	50734108		2203	4300	6503	SO:0001587	stop_gained	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50734108T>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1782T>A	18.37:g.50734108T>A	ENSP00000389140:p.Tyr594*					DCC_uc010xdr.1_Nonsense_Mutation_p.Y442*|DCC_uc010dpf.1_Nonsense_Mutation_p.Y249*	p.Y594*	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	11	2369	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	594			Extracellular (Potential).|Fibronectin type-III 2.			Nonsense_Mutation	SNP	ENST00000442544.2	37	c.1782T>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	38	7.130062	0.98085	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	.	.	.	5.83	2.18	0.27775	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.2149	0.31505	0.0:0.3024:0.0:0.6976	.	.	.	.	X	594;527;442	.	ENSP00000304146:Y527X	Y	+	3	2	DCC	48988106	0.983000	0.35010	0.946000	0.38457	0.880000	0.50808	0.653000	0.24902	0.152000	0.19188	-0.256000	0.11100	TAT		0.378	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		45	94	0	0	0	0.000125731	0	45	94				
DCC	1630	broad.mit.edu	37	18	50734144	50734144	+	Silent	SNP	G	G	C	rs143737066	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:50734144G>C	ENST00000442544.2	+	11	2434	c.1818G>C	c.(1816-1818)ccG>ccC	p.P606P	DCC_ENST00000412726.1_Silent_p.P454P|DCC_ENST00000581580.1_Silent_p.P261P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	606	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.P606P(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GCTATGGTCCGGGCGTCTCTA	0.353																																							uc002lfe.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(1816-1818)CCG>CCC		netrin receptor DCC precursor							144.0	148.0	147.0					18																	50734144		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50734144G>C	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1818G>C	18.37:g.50734144G>C						DCC_uc010xdr.1_Silent_p.P454P|DCC_uc010dpf.1_Silent_p.P261P	p.P606P	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	11	2405	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	606			Extracellular (Potential).|Fibronectin type-III 2.			Silent	SNP	ENST00000442544.2	37	c.1818G>C	CCDS11952.1																																																																																				0.353	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		5	158	0	0	0	8.12818e-05	0	5	158				
CBLN2	147381	broad.mit.edu	37	18	70209161	70209161	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:70209161T>A	ENST00000269503.4	-	3	1008	c.235A>T	c.(235-237)Acc>Tcc	p.T79S	CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.T79S|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000583651.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	79					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)		p.T79S(1)		endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				AGGGAGGAGGTGACGGCGCCG	0.706																																							uc002lku.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(235-237)ACC>TCC		cerebellin 2 precursor							33.0	29.0	31.0					18																	70209161		2202	4299	6501	SO:0001583	missense	147381					integral to membrane		g.chr18:70209161T>A	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.235A>T	18.37:g.70209161T>A	ENSP00000269503:p.Thr79Ser					CBLN2_uc002lkv.2_Missense_Mutation_p.T79S	p.T79S	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN			2	470	-		Esophageal squamous(42;0.131)	79					Q53Z56	Missense_Mutation	SNP	ENST00000269503.4	37	c.235A>T	CCDS11999.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.895025	0.33442	.	.	ENSG00000141668	ENST00000269503	D	0.81659	-1.52	3.9	3.9	0.45041	.	0.116177	0.56097	D	0.000030	T	0.64023	0.2561	N	0.16166	0.38	0.80722	D	1	B	0.17268	0.021	B	0.19148	0.024	T	0.58171	-0.7683	10	0.13853	T	0.58	-9.3858	12.8571	0.57892	0.0:0.0:0.0:1.0	.	79	Q8IUK8	CBLN2_HUMAN	S	79	ENSP00000269503:T79S	ENSP00000269503:T79S	T	-	1	0	CBLN2	68360141	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.622000	0.54217	1.766000	0.52107	0.379000	0.24179	ACC		0.706	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256288.1	NM_182511		6	26	0	0	0	3.59834e-05	0	6	26				
KCNG2	26251	broad.mit.edu	37	18	77659266	77659266	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr18:77659266G>A	ENST00000316249.3	+	2	851	c.851G>A	c.(850-852)gGg>gAg	p.G284E	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	284					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.G284E(1)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GAGCGCGCGGGGCTGGTGCTG	0.716																																							uc010xfl.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(850-852)GGG>GAG		potassium voltage-gated channel, subfamily G,							11.0	14.0	13.0					18																	77659266		2161	4204	6365	SO:0001583	missense	26251				energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr18:77659266G>A	AJ011021	CCDS12019.1	18q23	2011-07-05			ENSG00000178342	ENSG00000178342		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6249	protein-coding gene	gene with protein product		605696				10551266, 16382104	Standard	NM_012283		Approved	Kv6.2, KCNF2	uc010xfl.2	Q9UJ96	OTTHUMG00000044541	ENST00000316249.3:c.851G>A	18.37:g.77659266G>A	ENSP00000315654:p.Gly284Glu						p.G284E	NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)	2	851	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	284						Missense_Mutation	SNP	ENST00000316249.3	37	c.851G>A	CCDS12019.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451074	0.84209	.	.	ENSG00000178342	ENST00000316249	D	0.98550	-4.99	3.35	3.35	0.38373	Ion transport (1);	0.144352	0.46442	U	0.000282	D	0.98592	0.9529	M	0.75085	2.285	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.98413	1.0573	10	0.36615	T	0.2	.	14.868	0.70430	0.0:0.0:1.0:0.0	.	284	Q9UJ96	KCNG2_HUMAN	E	284	ENSP00000315654:G284E	ENSP00000315654:G284E	G	+	2	0	KCNG2	75760254	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	8.415000	0.90241	1.708000	0.51301	0.411000	0.27672	GGG		0.716	KCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103906.1	NM_012283		5	5	0	0	0	8.12818e-05	0	5	5				
SAFB2	9667	broad.mit.edu	37	19	5621405	5621405	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:5621405C>G	ENST00000252542.4	-	2	453	c.189G>C	c.(187-189)gcG>gcC	p.A63A	SAFB_ENST00000292123.5_5'Flank|SAFB_ENST00000433404.1_5'Flank|SAFB_ENST00000592224.1_5'Flank|SAFB_ENST00000588852.1_5'Flank|SAFB_ENST00000538656.1_5'Flank|SAFB_ENST00000454510.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	63	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A63A(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTTCTTTAACCGCCTATTAGG	0.443																																					Ovarian(127;888 1728 23957 44128 52668)	Ovarian(127;888 1728 23957 44128 52668)	uc002mcd.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(187-189)GCG>GCC		scaffold attachment factor B2							221.0	204.0	209.0					19																	5621405		2203	4300	6503	SO:0001819	synonymous_variant	9667				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5621405C>G	D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.189G>C	19.37:g.5621405C>G						SAFB_uc010xiq.1_5'Flank|SAFB_uc002mcf.2_5'Flank|SAFB_uc002mcg.2_5'Flank|SAFB_uc002mce.3_5'Flank|SAFB_uc010xir.1_5'Flank|SAFB_uc010xis.1_5'Flank|SAFB_uc010xit.1_5'Flank|SAFB_uc010xiu.1_5'Flank|SAFB2_uc010xio.1_Silent_p.A63A|SAFB2_uc010xip.1_RNA	p.A63A	NM_014649	NP_055464	Q14151	SAFB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)	2	401	-			63			SAP.		B4DKG3|Q8TB13	Silent	SNP	ENST00000252542.4	37	c.189G>C	CCDS32879.1																																																																																				0.443	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1	NM_014649		5	119	0	0	0	1.23904e-05	0	5	119				
MUC16	94025	broad.mit.edu	37	19	9065289	9065289	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:9065289A>G	ENST00000397910.4	-	3	22360	c.22157T>C	c.(22156-22158)gTg>gCg	p.V7386A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7388	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.V7386A(2)|p.V3019A(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						TGTTTCTTCCACAGGGAGAGA	0.502																																							uc002mkp.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(22156-22158)GTG>GCG		mucin 16							71.0	73.0	72.0					19																	9065289		2000	4157	6157	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065289A>G	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.22157T>C	19.37:g.9065289A>G	ENSP00000381008:p.Val7386Ala						p.V7386A	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	22361	-			7388			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.22157T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	4.193	0.034515	0.08101	.	.	ENSG00000181143	ENST00000397910	T	0.30714	1.52	2.44	-1.64	0.08318	.	.	.	.	.	T	0.18718	0.0449	L	0.27053	0.805	.	.	.	P	0.34977	0.478	B	0.34301	0.179	T	0.18871	-1.0323	8	0.87932	D	0	.	6.5386	0.22367	0.3541:0.0:0.0:0.6459	.	7386	B5ME49	.	A	7386	ENSP00000381008:V7386A	ENSP00000381008:V7386A	V	-	2	0	MUC16	8926289	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.973000	0.01500	-0.508000	0.06540	-0.514000	0.04452	GTG		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		14	9	0	0	0	0.000151284	0	14	9				
MUC16	94025	broad.mit.edu	37	19	9065940	9065940	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:9065940G>T	ENST00000397910.4	-	3	21709	c.21506C>A	c.(21505-21507)aCc>aAc	p.T7169N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7171	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.T7169N(2)|p.T2802N(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						TGTATTTGTGGTGTCCTTGCC	0.507																																							uc002mkp.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(21505-21507)ACC>AAC		mucin 16							195.0	180.0	185.0					19																	9065940		2101	4234	6335	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9065940G>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.21506C>A	19.37:g.9065940G>T	ENSP00000381008:p.Thr7169Asn						p.T7169N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	21710	-			7171			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.21506C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.131	-0.178322	0.06380	.	.	ENSG00000181143	ENST00000397910	T	0.30448	1.53	2.59	0.145	0.14829	.	.	.	.	.	T	0.24353	0.0590	L	0.47716	1.5	.	.	.	B	0.23540	0.087	B	0.26517	0.07	T	0.29610	-1.0006	8	0.87932	D	0	.	4.7216	0.12920	0.0:0.2457:0.5027:0.2516	.	7169	B5ME49	.	N	7169	ENSP00000381008:T7169N	ENSP00000381008:T7169N	T	-	2	0	MUC16	8926940	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.243000	0.18106	0.127000	0.18452	-0.774000	0.03386	ACC		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		48	29	1	0	2.9001e-28	0.000147903	7.45895e-27	48	29				
MUC16	94025	broad.mit.edu	37	19	9084758	9084758	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:9084758C>A	ENST00000397910.4	-	1	7260	c.7057G>T	c.(7057-7059)Gat>Tat	p.D2353Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2353	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.D2353Y(2)		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						TCAAGGATATCTGAGGTTTTT	0.453																																							uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(7057-7059)GAT>TAT		mucin 16							153.0	148.0	150.0					19																	9084758		1923	4141	6064	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9084758C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7057G>T	19.37:g.9084758C>A	ENSP00000381008:p.Asp2353Tyr						p.D2353Y	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	7261	-			2353			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.7057G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	0.719	-0.784125	0.02907	.	.	ENSG00000181143	ENST00000397910	T	0.03124	4.04	0.225	0.225	0.15325	.	.	.	.	.	T	0.05547	0.0146	N	0.08118	0	.	.	.	D	0.76494	0.999	D	0.72982	0.979	T	0.41378	-0.9512	7	0.87932	D	0	.	.	.	.	.	2353	B5ME49	.	Y	2353	ENSP00000381008:D2353Y	ENSP00000381008:D2353Y	D	-	1	0	MUC16	8945758	0.600000	0.26899	0.116000	0.21606	0.116000	0.19942	0.673000	0.25203	0.300000	0.22699	0.305000	0.20034	GAT		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		21	11	1	0	1.64113e-05	0.000175454	0.000354506	21	11				
OR7C1	26664	broad.mit.edu	37	19	14910187	14910187	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:14910187C>A	ENST00000248073.2	-	1	836	c.762G>T	c.(760-762)acG>acT	p.T254T	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	254					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T254T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CCCCAAAGCCCGTGCCATAGA	0.517																																							uc010xnz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(760-762)ACG>ACT		olfactory receptor, family 7, subfamily C,							82.0	77.0	79.0					19																	14910187		2203	4300	6503	SO:0001819	synonymous_variant	26664				sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14910187C>A	X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.762G>T	19.37:g.14910187C>A							p.T254T	NM_198944	NP_945182	O76099	OR7C1_HUMAN			1	762	-			254			Helical; Name=6; (Potential).		Q15621|Q6IFP2|Q96R94	Silent	SNP	ENST00000248073.2	37	c.762G>T	CCDS12317.1																																																																																				0.517	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1			30	7	1	0	8.88839e-20	0.000339439	2.19972e-18	30	7				
OR7A5	26659	broad.mit.edu	37	19	14938679	14938679	+	Silent	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:14938679G>A	ENST00000322301.3	-	2	462	c.375C>T	c.(373-375)gcC>gcT	p.A125A	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.A125A			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	125					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.A125A(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GGTGACAGATGGCCACAAACC	0.488																																							uc002mzw.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(373-375)GCC>GCT		olfactory receptor, family 7, subfamily A,							107.0	97.0	100.0					19																	14938679		2203	4300	6503	SO:0001819	synonymous_variant	26659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14938679G>A	X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.375C>T	19.37:g.14938679G>A						OR7A5_uc010xoa.1_Silent_p.A125A	p.A125A	NM_017506	NP_059976	Q15622	OR7A5_HUMAN			1	598	-			125			Cytoplasmic (Potential).		B2R682|Q6IFP1|Q96R96	Silent	SNP	ENST00000322301.3	37	c.375C>T	CCDS12318.1																																																																																				0.488	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466518.1	NM_017506		40	11	0	0	0	0.000106405	0	40	11				
EPS15L1	58513	broad.mit.edu	37	19	16487937	16487937	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:16487937G>C	ENST00000248070.6	-	22	2515	c.2376C>G	c.(2374-2376)ccC>ccG	p.P792P	EPS15L1_ENST00000455140.2_Silent_p.P792P|EPS15L1_ENST00000535753.2_Intron|EPS15L1_ENST00000594975.1_Intron	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	792	15 X 3 AA repeats of D-P-F.|Pro-rich.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P792P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ACTGACCGCTGGGCGGTTTAG	0.607											OREG0025332	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002ndz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(2374-2376)CCC>CCG		epidermal growth factor receptor pathway							96.0	98.0	98.0					19																	16487937		2203	4300	6503	SO:0001819	synonymous_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16487937G>C	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.2376C>G	19.37:g.16487937G>C			OREG0025332	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	710	EPS15L1_uc002ndx.2_Silent_p.P792P|EPS15L1_uc002ndy.2_Intron|EPS15L1_uc010xpe.1_Intron|EPS15L1_uc010xpf.1_Silent_p.P695P|EPS15L1_uc002nea.1_Intron|EPS15L1_uc010eah.1_Intron	p.P792P	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			22	2382	-			792			Pro-rich.|15 X 3 AA repeats of D-P-F.		A2RRF3|A5PL29|B4DKA3	Silent	SNP	ENST00000248070.6	37	c.2376C>G	CCDS32944.1																																																																																				0.607	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235		4	43	0	0	0	1.23904e-05	0	4	43				
ZNF737	100129842	broad.mit.edu	37	19	20727897	20727897	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:20727897C>A	ENST00000427401.4	-	4	1206	c.1112G>T	c.(1111-1113)tGt>tTt	p.C371F		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	371					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.C370F(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						ACATTCTTCACATTTGTAGGG	0.408																																							uc002npa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1111-1113)TGT>TTT		zinc finger protein 737							28.0	28.0	28.0					19																	20727897		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20727897C>A	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.1112G>T	19.37:g.20727897C>A	ENSP00000395733:p.Cys371Phe						p.C371F	NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN			4	1292	-			371					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.1112G>T	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	N	10.62	1.401583	0.25291	.	.	ENSG00000237440	ENST00000427401	D	0.85088	-1.94	0.801	0.801	0.18679	.	.	.	.	.	D	0.92616	0.7654	H	0.96239	3.79	0.23994	N	0.996233	D	0.64830	0.994	P	0.60541	0.876	D	0.83522	0.0086	9	0.72032	D	0.01	.	6.955	0.24565	0.0:1.0:0.0:0.0	.	371	C9JHM3	.	F	371	ENSP00000395733:C371F	ENSP00000395733:C371F	C	-	2	0	ZNF737	20519737	0.996000	0.38824	0.701000	0.30321	0.702000	0.40608	5.253000	0.65452	0.170000	0.19704	0.173000	0.16961	TGT		0.408	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		13	13	1	0	3.45872e-05	0.000422831	0.000742464	13	13				
GPATCH1	55094	broad.mit.edu	37	19	33602681	33602681	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:33602681G>T	ENST00000170564.2	+	12	1951	c.1637G>T	c.(1636-1638)cGt>cTt	p.R546L		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	546					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.R546L(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GAGCGAGGCCGTGAGCGGGAT	0.582																																					Pancreas(67;88 1713 4567 18227)	Pancreas(67;88 1713 4567 18227)	uc002nug.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1636-1638)CGT>CTT		G patch domain containing 1							111.0	107.0	109.0					19																	33602681		2203	4300	6503	SO:0001583	missense	55094					catalytic step 2 spliceosome	nucleic acid binding	g.chr19:33602681G>T	AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.1637G>T	19.37:g.33602681G>T	ENSP00000170564:p.Arg546Leu					GPATCH1_uc002nuh.1_5'Flank	p.R546L	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN			12	1951	+	Esophageal squamous(110;0.137)		546					Q8IZV6|Q8N3B7|Q9NW94	Missense_Mutation	SNP	ENST00000170564.2	37	c.1637G>T	CCDS12428.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338120	0.60963	.	.	ENSG00000076650	ENST00000170564	T	0.33865	1.39	5.73	5.73	0.89815	.	0.047094	0.85682	D	0.000000	T	0.46658	0.1404	M	0.81497	2.545	0.80722	D	1	P	0.50528	0.936	B	0.42062	0.374	T	0.55471	-0.8136	10	0.54805	T	0.06	-11.1636	18.9062	0.92462	0.0:0.0:1.0:0.0	.	546	Q9BRR8	GPTC1_HUMAN	L	546	ENSP00000170564:R546L	ENSP00000170564:R546L	R	+	2	0	GPATCH1	38294521	1.000000	0.71417	0.960000	0.40013	0.134000	0.20937	6.665000	0.74442	2.714000	0.92807	0.650000	0.86243	CGT		0.582	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450834.1	NM_018025		30	11	1	0	1.30897e-18	0.000279167	3.22208e-17	30	11				
CATSPERG	57828	broad.mit.edu	37	19	38853033	38853033	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:38853033G>C	ENST00000409235.3	+	19	2290	c.2175G>C	c.(2173-2175)ttG>ttC	p.L725F	CATSPERG_ENST00000410018.1_Missense_Mutation_p.L685F|AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	725					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.L365F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ACTTCTTCTTGGCGAGCAATT	0.642																																							uc002oih.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2173-2175)TTG>TTC		cation channel, sperm-associated, gamma							61.0	67.0	65.0					19																	38853033		2202	4299	6501	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38853033G>C	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2175G>C	19.37:g.38853033G>C	ENSP00000386962:p.Leu725Phe					CATSPERG_uc002oig.3_Missense_Mutation_p.L685F|CATSPERG_uc002oif.3_Missense_Mutation_p.L365F|CATSPERG_uc010efw.2_RNA	p.L725F	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			19	2262	+			725			Extracellular (Potential).		A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.2175G>C	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659224	0.47467	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.37584	1.19;1.19	4.61	0.63	0.17693	.	0.188220	0.25535	N	0.030020	T	0.50463	0.1617	M	0.71581	2.175	0.19775	N	0.99995	D;D	0.89917	0.995;1.0	D;D	0.85130	0.925;0.997	T	0.29822	-0.9999	10	0.72032	D	0.01	-15.008	4.7724	0.13162	0.2377:0.1866:0.5756:0.0	.	725;685	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	F	685;725;725	ENSP00000387057:L685F;ENSP00000386962:L725F	ENSP00000386962:L725F	L	+	3	2	CATSPERG	43544873	0.992000	0.36948	0.629000	0.29254	0.257000	0.26127	0.559000	0.23485	0.354000	0.24105	0.462000	0.41574	TTG		0.642	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		4	61	0	0	0	1.23904e-05	0	4	61				
SPTBN4	57731	broad.mit.edu	37	19	41077931	41077931	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:41077931G>C	ENST00000352632.3	+	34	7412	c.7326G>C	c.(7324-7326)tgG>tgC	p.W2442C	SPTBN4_ENST00000392025.1_Missense_Mutation_p.W1185C|SPTBN4_ENST00000598249.1_Missense_Mutation_p.W2442C|SPTBN4_ENST00000593816.1_3'UTR			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2442	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.W2442C(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGGTCGTGGGTGAGCCTGT	0.562																																							uc002ony.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(7324-7326)TGG>TGC		spectrin, beta, non-erythrocytic 4 isoform							236.0	251.0	246.0					19																	41077931		2203	4300	6503	SO:0001583	missense	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41077931G>C	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.7326G>C	19.37:g.41077931G>C	ENSP00000263373:p.Trp2442Cys					SPTBN4_uc002onz.2_Missense_Mutation_p.W2442C|SPTBN4_uc010egx.2_Missense_Mutation_p.W1185C	p.W2442C	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		34	7412	+			2442			PH.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.7326G>C	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137547	0.77775	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000392025	D;D	0.84800	-1.9;-1.9	5.1	5.1	0.69264	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.197760	0.35525	U	0.003143	D	0.94198	0.8138	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95280	0.8385	10	0.87932	D	0	.	17.4308	0.87539	0.0:0.0:1.0:0.0	.	1185;2442	C9JY79;Q9H254	.;SPTN4_HUMAN	C	2442;2442;1185	ENSP00000263373:W2442C;ENSP00000375879:W1185C	ENSP00000263373:W2442C	W	+	3	0	SPTBN4	45769771	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.505000	0.97989	2.657000	0.90304	0.563000	0.77884	TGG		0.562	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			6	191	0	0	0	0.000157383	0	6	191				
PSG5	5673	broad.mit.edu	37	19	43689024	43689024	+	Missense_Mutation	SNP	G	G	C	rs199745569		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:43689024G>C	ENST00000366175.3	-	2	470	c.340C>G	c.(340-342)Cgg>Ggg	p.R114G	PSG5_ENST00000404580.1_Missense_Mutation_p.R114G|PSG5_ENST00000342951.6_Missense_Mutation_p.R114G|PSG5_ENST00000599812.1_Missense_Mutation_p.R114G|PSG5_ENST00000407356.1_Missense_Mutation_p.R114G|PSG5_ENST00000407568.1_Missense_Mutation_p.R114G|PSG5_ENST00000401992.1_5'UTR			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	114	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				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)				GCGTCTTCCCGGGTGACATTC	0.428																																							uc002ovu.2		NA																	0				skin(3)	3						c.(340-342)CGG>GGG		pregnancy specific beta-1-glycoprotein 5							344.0	318.0	327.0					19																	43689024		2203	4295	6498	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43689024G>C		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.340C>G	19.37:g.43689024G>C	ENSP00000382334:p.Arg114Gly					PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Missense_Mutation_p.R42G|PSG5_uc002ovx.2_Missense_Mutation_p.R114G|PSG5_uc002ovv.2_Missense_Mutation_p.R114G|PSG5_uc002ovw.2_Missense_Mutation_p.R114G	p.R114G	NM_002781	NP_002772	Q15238	PSG5_HUMAN			2	471	-		Prostate(69;0.00899)	114			Ig-like V-type.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.340C>G	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	N	3.136	-0.177328	0.06380	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	1.58	-3.15	0.05233	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53769	0.1817	L	0.56340	1.77	0.09310	N	1	B;B;B;B	0.12013	0.003;0.005;0.001;0.003	B;B;B;B	0.26416	0.069;0.03;0.011;0.018	T	0.47058	-0.9146	9	0.49607	T	0.09	.	0.7009	0.00908	0.157:0.1932:0.2612:0.3887	.	114;114;114;114	E7EWL9;E9PC55;Q15228;Q15238	.;.;.;PSG5_HUMAN	G	114	ENSP00000382334:R114G;ENSP00000386008:R114G;ENSP00000386053:R114G;ENSP00000344413:R114G;ENSP00000385250:R114G	ENSP00000344413:R114G	R	-	1	2	PSG5	48380864	0.003000	0.15002	0.005000	0.12908	0.011000	0.07611	0.199000	0.17237	-1.557000	0.01692	-1.434000	0.01081	CGG		0.428	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		6	260	0	0	0	3.59834e-05	0	6	260				
LIG1	3978	broad.mit.edu	37	19	48631178	48631178	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:48631178G>C	ENST00000263274.7	-	20	2340	c.1921C>G	c.(1921-1923)Cgc>Ggc	p.R641G	LIG1_ENST00000427526.2_Missense_Mutation_p.R610G|CTC-453G23.5_ENST00000596563.1_RNA|LIG1_ENST00000536218.1_Missense_Mutation_p.R573G|CTC-453G23.5_ENST00000596839.1_RNA	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	641					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.R641G(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TTGCGTTTGCGGGTGGTGAGC	0.592								Nucleotide excision repair (NER)																															uc002pia.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)	3						c.(1921-1923)CGC>GGC	NER	DNA ligase I	Bleomycin(DB00290)						324.0	272.0	290.0					19																	48631178		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48631178G>C		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.1921C>G	19.37:g.48631178G>C	ENSP00000263274:p.Arg641Gly					LIG1_uc010xze.1_Missense_Mutation_p.R334G|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.R573G|LIG1_uc010xzg.1_Missense_Mutation_p.R610G	p.R641G	NM_000234	NP_000225	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	20	2041	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	641					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.1921C>G	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826145	0.71143	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000536218	D;D;D	0.83163	-1.69;-1.69;-1.69	5.16	5.16	0.70880	DNA ligase, ATP-dependent, central (1);	0.000000	0.85682	D	0.000000	D	0.94198	0.8138	H	0.98646	4.29	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.97110	0.966;1.0;1.0	D	0.95314	0.8414	10	0.87932	D	0	-20.2062	11.6154	0.51086	0.0:0.0:0.8222:0.1778	.	610;573;641	B4DTU4;F5GZ28;P18858	.;.;DNLI1_HUMAN	G	641;672;610;573	ENSP00000263274:R641G;ENSP00000442841:R610G;ENSP00000441531:R573G	ENSP00000263274:R641G	R	-	1	0	LIG1	53322990	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.689000	0.61723	2.575000	0.86900	0.561000	0.74099	CGC		0.592	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		5	147	0	0	0	3.59834e-05	0	5	147				
NCR1	9437	broad.mit.edu	37	19	55420752	55420752	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:55420752C>A	ENST00000291890.4	+	4	542	c.504C>A	c.(502-504)taC>taA	p.Y168*	NCR1_ENST00000338835.5_Nonsense_Mutation_p.Y168*|NCR1_ENST00000357397.5_Nonsense_Mutation_p.Y61*|NCR1_ENST00000350790.5_Nonsense_Mutation_p.Y73*|NCR1_ENST00000447255.1_Nonsense_Mutation_p.Y168*|NCR1_ENST00000594765.1_Nonsense_Mutation_p.Y168*|NCR1_ENST00000598576.1_Nonsense_Mutation_p.Y156*	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	168	Ig-like 2.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)	p.Y168*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		AGCGCGGATACGGGAAGGTCC	0.567																																							uc002qib.2		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(502-504)TAC>TAA		natural cytotoxicity triggering receptor 1							109.0	93.0	99.0					19																	55420752		2203	4300	6503	SO:0001587	stop_gained	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55420752C>A	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.504C>A	19.37:g.55420752C>A	ENSP00000291890:p.Tyr168*					NCR1_uc002qic.2_Nonsense_Mutation_p.Y168*|NCR1_uc002qie.2_Nonsense_Mutation_p.Y168*|NCR1_uc002qid.2_Nonsense_Mutation_p.Y73*|NCR1_uc002qif.2_Nonsense_Mutation_p.Y73*|NCR1_uc010esj.2_Nonsense_Mutation_p.Y61*	p.Y168*	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	4	542	+			168			Extracellular (Potential).|Ig-like 2.		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Nonsense_Mutation	SNP	ENST00000291890.4	37	c.504C>A	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	c	11.18	1.562667	0.27915	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	.	.	.	3.53	-7.07	0.01563	.	25.890400	0.00166	N	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	10.9141	0.47126	0.0:0.1682:0.1012:0.7307	.	.	.	.	X	168;168;168;73;61	.	ENSP00000291890:Y168X	Y	+	3	2	NCR1	60112564	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-3.556000	0.00432	-3.199000	0.00217	-1.290000	0.01357	TAC		0.567	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			18	22	1	0	4.96729e-08	0.000132079	1.11501e-06	18	22				
NLRP4	147945	broad.mit.edu	37	19	56379135	56379135	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:56379135C>A	ENST00000301295.6	+	6	2669	c.2247C>A	c.(2245-2247)aaC>aaA	p.N749K	NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000587891.1_Missense_Mutation_p.N674K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	749					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.N749K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCTAACCAACAACAAGAAGC	0.488																																							uc002qmd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2245-2247)AAC>AAA		NLR family, pyrin domain containing 4							201.0	162.0	175.0					19																	56379135		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56379135C>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2247C>A	19.37:g.56379135C>A	ENSP00000301295:p.Asn749Lys					NLRP4_uc002qmf.2_Missense_Mutation_p.N674K|NLRP4_uc010etf.2_Intron	p.N749K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	6	2669	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	749					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2247C>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.667250	0.00765	.	.	ENSG00000160505	ENST00000301295	T	0.13089	2.62	3.13	-0.532	0.11890	.	.	.	.	.	T	0.07593	0.0191	N	0.20766	0.605	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.36089	-0.9762	9	0.35671	T	0.21	.	5.5263	0.16960	0.4049:0.3975:0.1976:0.0	.	674;749	Q96MN2-3;Q96MN2	.;NALP4_HUMAN	K	749	ENSP00000301295:N749K	ENSP00000301295:N749K	N	+	3	2	NLRP4	61070947	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.090000	0.11163	-0.003000	0.14444	-0.718000	0.03613	AAC		0.488	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		50	33	1	0	1.86633e-21	0.000147903	4.66075e-20	50	33				
ZNF548	147694	broad.mit.edu	37	19	57908500	57908500	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:57908500C>G	ENST00000366197.5	+	2	350	c.100C>G	c.(100-102)Cgt>Ggt	p.R34G	AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000598895.1_Missense_Mutation_p.R46G|AC003002.6_ENST00000600421.1_3'UTR|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.R46G|ZNF548_ENST00000597400.1_Missense_Mutation_p.R46G|AC004076.7_ENST00000597410.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTGCTGTACCGTGATGTGAT	0.532																																							uc002qom.2		NA																	0				breast(1)	1						c.(100-102)CGT>GGT		zinc finger protein 548							431.0	392.0	405.0					19																	57908500		2203	4300	6503	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57908500C>G	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.100C>G	19.37:g.57908500C>G	ENSP00000379482:p.Arg34Gly					ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.R37G	p.R34G	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	350	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	34			KRAB.		Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.100C>G	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	C	7.319	0.616568	0.14129	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.02656	4.21;4.21	2.55	-3.74	0.04385	Krueppel-associated box (4);	.	.	.	.	T	0.05777	0.0151	M	0.92026	3.265	0.09310	N	1	B;B	0.24963	0.094;0.115	B;B	0.23275	0.027;0.045	T	0.25813	-1.0121	9	0.48119	T	0.1	.	4.5366	0.12037	0.1714:0.2128:0.0:0.6158	.	46;34	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	G	46;34	ENSP00000337555:R46G;ENSP00000379482:R34G	ENSP00000337555:R46G	R	+	1	0	ZNF548	62600312	0.000000	0.05858	0.001000	0.08648	0.432000	0.31715	-3.078000	0.00615	-0.774000	0.04590	0.563000	0.77884	CGT		0.532	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1	NM_152909		5	238	0	0	0	0.000157383	0	5	238				
ZNF134	7693	broad.mit.edu	37	19	58132703	58132703	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr19:58132703G>C	ENST00000396161.5	+	3	1526	c.1216G>C	c.(1216-1218)Ggg>Cgg	p.G406R		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	406					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.G406R(1)|p.G406W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CAGTGAATGTGGGAAGGCCTA	0.478																																							uc002qpn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1216-1218)GGG>CGG		zinc finger protein 134							136.0	142.0	140.0					19																	58132703		2203	4300	6503	SO:0001583	missense	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58132703G>C	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.1216G>C	19.37:g.58132703G>C	ENSP00000379464:p.Gly406Arg					ZNF134_uc002qpo.2_Missense_Mutation_p.G233R|ZNF211_uc010yhb.1_5'UTR	p.G406R	NM_003435	NP_003426	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	1315	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	406			C2H2-type 11.		Q9Y4B2	Missense_Mutation	SNP	ENST00000396161.5	37	c.1216G>C	CCDS42638.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970308	0.74246	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	T	0.03524	3.9	4.37	4.37	0.52481	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18593	0.0446	M	0.78285	2.405	0.33827	D	0.62975	D	0.89917	1.0	D	0.97110	1.0	T	0.09618	-1.0666	9	0.49607	T	0.09	.	16.1539	0.81644	0.0:0.0:1.0:0.0	.	406	P52741	ZN134_HUMAN	R	473;326;406	ENSP00000379464:G406R	ENSP00000379464:G406R	G	+	1	0	ZNF134	62824515	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.723000	0.47277	2.408000	0.81797	0.563000	0.77884	GGG		0.478	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435		4	94	0	0	0	0.00024832	0	4	94				
ACP1	52	broad.mit.edu	37	2	277079	277079	+	Silent	SNP	C	C	G	rs144534474		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:277079C>G	ENST00000272065.5	+	5	486	c.393C>G	c.(391-393)ccC>ccG	p.P131P	ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000272067.6_Silent_p.P131P	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	131						cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)	p.P131P(3)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	TTGAAGATCCCTATTATGTAA	0.323																																							uc002qwg.2		NA																	3	Substitution - coding silent(3)	p.P131P(1)	lung(2)|skin(1)	skin(1)	1						c.(391-393)CCC>CCG		acid phosphatase 1, soluble isoform b							67.0	69.0	69.0					2																	277079		2202	4300	6502	SO:0001819	synonymous_variant	52					cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:277079C>G	M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"""Protein tyrosine phosphatases / Class II Cys-based PTPs"""	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.393C>G	2.37:g.277079C>G						ACP1_uc002qwh.2_RNA|ACP1_uc002qwf.2_Silent_p.P131P	p.P131P	NM_007099	NP_009030	P24666	PPAC_HUMAN		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	5	489	+	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)	131					A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Silent	SNP	ENST00000272065.5	37	c.393C>G	CCDS1639.1																																																																																				0.323	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195862.3			5	79	0	0	0	1.23904e-05	0	5	79				
KCNS3	3790	broad.mit.edu	37	2	18112979	18112979	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:18112979G>C	ENST00000403915.1	+	3	1155	c.704G>C	c.(703-705)gGg>gCg	p.G235A	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.G235A	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	235					energy reserve metabolic process (GO:0006112)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)	p.G235A(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGGTTCACCGGGGAGCTTGCC	0.517																																							uc002rcv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(703-705)GGG>GCG		potassium voltage-gated channel							87.0	86.0	86.0					2																	18112979		2203	4300	6503	SO:0001583	missense	3790				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr2:18112979G>C	AF043472	CCDS1692.1	2p24	2011-07-05			ENSG00000170745	ENSG00000170745		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6302	protein-coding gene	gene with protein product		603888				10484328, 16382104	Standard	NM_002252		Approved	Kv9.3	uc002rcw.3	Q9BQ31	OTTHUMG00000044150	ENST00000403915.1:c.704G>C	2.37:g.18112979G>C	ENSP00000385968:p.Gly235Ala					KCNS3_uc002rcw.2_Missense_Mutation_p.G235A	p.G235A	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN			3	1155	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		235			Helical; Name=Segment S2; (Potential).		D6W520|O43651|Q4ZFY1|Q96B56	Missense_Mutation	SNP	ENST00000403915.1	37	c.704G>C	CCDS1692.1	.	.	.	.	.	.	.	.	.	.	G	5.141	0.211550	0.09757	.	.	ENSG00000170745	ENST00000403915;ENST00000304101	D;D	0.98313	-4.86;-4.86	6.07	4.25	0.50352	Ion transport (1);	0.484707	0.23690	N	0.045530	D	0.91054	0.7185	N	0.01464	-0.85	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.83168	-0.0095	10	0.22706	T	0.39	.	9.69	0.40123	0.0:0.2475:0.5301:0.2224	.	235	Q9BQ31	KCNS3_HUMAN	A	235	ENSP00000385968:G235A;ENSP00000305824:G235A	ENSP00000305824:G235A	G	+	2	0	KCNS3	17976460	0.018000	0.18449	0.416000	0.26546	0.981000	0.71138	1.873000	0.39558	0.873000	0.35799	0.655000	0.94253	GGG		0.517	KCNS3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323808.1	NM_002252		5	140	0	0	0	1.23904e-05	0	5	140				
RDH14	57665	broad.mit.edu	37	2	18736716	18736716	+	Missense_Mutation	SNP	C	C	G	rs565233813		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:18736716C>G	ENST00000381249.3	-	2	859	c.752G>C	c.(751-753)cGg>cCg	p.R251P	RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1	Q9HBH5	RDH14_HUMAN	retinol dehydrogenase 14 (all-trans/9-cis/11-cis)	251					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)				Vitamin A(DB00162)	CAGATTTGTCCGTACAATACC	0.478																																							uc010exr.2		NA																	0				skin(2)|ovary(1)	3						c.(1693-1695)CGG>CCG		5' nucleotidase, cytosolic IB isoform 2							187.0	179.0	182.0					2																	18736716		2203	4299	6502	SO:0001583	missense	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18736716C>G	AF237952	CCDS1693.1	2p24.2	2011-09-14	2006-05-09		ENSG00000240857	ENSG00000240857	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19979	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 4"""		"""retinol dehydrogenase 14 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_020905		Approved	PAN2, SDR7C4		Q9HBH5	OTTHUMG00000090705	ENST00000381249.3:c.752G>C	2.37:g.18736716C>G	ENSP00000370648:p.Arg251Pro					NT5C1B_uc002rcy.2_3'UTR|RDH14_uc002rcx.3_Missense_Mutation_p.R251P	p.R565P	NM_033253	NP_150278	Q96P26	5NT1B_HUMAN			9	1798	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	Error:Variant_position_missing_in_Q96P26_after_alignment						Missense_Mutation	SNP	ENST00000381249.3	37	c.1694G>C	CCDS1693.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813550	0.70912	.	.	ENSG00000240857	ENST00000381249	D	0.95482	-3.72	5.67	4.8	0.61643	NAD(P)-binding domain (1);	.	.	.	.	D	0.95658	0.8588	L	0.41027	1.25	0.58432	D	0.999994	D	0.76494	0.999	D	0.66351	0.943	D	0.94155	0.7409	9	0.24483	T	0.36	.	14.7208	0.69305	0.0:0.9305:0.0:0.0695	.	251	Q9HBH5	RDH14_HUMAN	P	251	ENSP00000370648:R251P	ENSP00000370648:R251P	R	-	2	0	RDH14	18600197	1.000000	0.71417	0.956000	0.39512	0.955000	0.61496	6.080000	0.71299	1.407000	0.46875	0.655000	0.94253	CGG		0.478	RDH14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207394.1			5	214	0	0	0	3.59834e-05	0	5	214				
WDR35	57539	broad.mit.edu	37	2	20145669	20145669	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:20145669C>A	ENST00000345530.3	-	17	1871	c.1756G>T	c.(1756-1758)Gga>Tga	p.G586*	WDR35_ENST00000416055.2_Nonsense_Mutation_p.G151*|WDR35_ENST00000281405.4_Nonsense_Mutation_p.G575*	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	586					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.G586*(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACAACTCTCCAACTACTTGC	0.413																																							uc002rdi.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1756-1758)GGA>TGA		WD repeat domain 35 isoform 1							204.0	185.0	192.0					2																	20145669		2203	4300	6503	SO:0001587	stop_gained	57539							g.chr2:20145669C>A	AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.1756G>T	2.37:g.20145669C>A	ENSP00000314444:p.Gly586*					WDR35_uc002rdj.2_Nonsense_Mutation_p.G575*|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Nonsense_Mutation_p.G151*|WDR35_uc002rdk.3_Nonsense_Mutation_p.G151*	p.G586*	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN			17	1864	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		586					B3KVI5|Q4ZG01|Q8NE11	Nonsense_Mutation	SNP	ENST00000345530.3	37	c.1756G>T	CCDS33152.1	.	.	.	.	.	.	.	.	.	.	C	37	6.560984	0.97663	.	.	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	.	.	.	5.49	5.49	0.81192	.	0.051039	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-14.6099	18.3562	0.90358	0.0:1.0:0.0:0.0	.	.	.	.	X	586;575;151;121	.	ENSP00000281405:G575X	G	-	1	0	WDR35	20009150	1.000000	0.71417	0.913000	0.36048	0.486000	0.33341	7.666000	0.83877	2.580000	0.87095	0.650000	0.86243	GGA		0.413	WDR35-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000207472.2	NM_020779		9	185	1	0	0.000274275	0.000274275	0.00558288	9	185				
APOB	338	broad.mit.edu	37	2	21242677	21242677	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:21242677G>T	ENST00000233242.1	-	19	3044	c.2917C>A	c.(2917-2919)Ctg>Atg	p.L973M		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	973					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.L973M(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTAATTCAGGCCAGGAAAG	0.537																																							uc002red.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(2917-2919)CTG>ATG		apolipoprotein B precursor	Atorvastatin(DB01076)						150.0	132.0	138.0					2																	21242677		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21242677G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2917C>A	2.37:g.21242677G>T	ENSP00000233242:p.Leu973Met						p.L973M	NM_000384	NP_000375	P04114	APOB_HUMAN			19	3045	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		973					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2917C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	12.01	1.809542	0.31961	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.17691	2.26	5.23	3.33	0.38152	Lipid transport protein, beta-sheet shell (1);Lipid transport, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.127136	0.35772	N	0.002984	T	0.15003	0.0362	L	0.40543	1.245	0.80722	D	1	P	0.37061	0.58	B	0.37550	0.253	T	0.04203	-1.0969	10	0.23891	T	0.37	.	13.078	0.59097	0.0:0.0:0.564:0.436	.	973	P04114	APOB_HUMAN	M	973	ENSP00000233242:L973M	ENSP00000233242:L973M	L	-	1	2	APOB	21096182	0.307000	0.24500	0.993000	0.49108	0.860000	0.49131	0.569000	0.23638	0.638000	0.30545	0.655000	0.94253	CTG		0.537	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			40	64	1	0	4.44401e-20	0.000509022	1.10378e-18	40	64				
ITSN2	50618	broad.mit.edu	37	2	24533237	24533238	+	Missense_Mutation	DNP	CC	CC	AA	rs550046461		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:24533237_24533238CC>AA	ENST00000355123.4	-	7	1011_1012	c.568_569GG>TT	c.(568-570)GGg>TTg	p.G190L	ITSN2_ENST00000406921.3_Missense_Mutation_p.G190L|ITSN2_ENST00000361999.3_Missense_Mutation_p.G190L|ITSN2_ENST00000407704.1_5'Flank	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	190					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.G190W(1)|p.G189W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAAGATGACCCATGAGGCAAT	0.342																																							uc002rfe.2		NA																	2	Substitution - Missense(2)		lung(2)	kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(568-570)GGG>TTG		intersectin 2 isoform 1																																				SO:0001583	missense	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24533237_24533238CC>AA	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.568_569delinsAA	2.37:g.24533237_24533238delinsAA	ENSP00000347244:p.Gly190Leu					ITSN2_uc002rff.2_Missense_Mutation_p.G190L|ITSN2_uc002rfg.2_Missense_Mutation_p.G190L|ITSN2_uc010eyd.2_Missense_Mutation_p.G190L	p.G190L	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			7	826_827	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		190					O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	DNP	ENST00000355123.4	37	c.568_569GG>TT	CCDS1710.2																																																																																				0.342	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		10	397	0	0	0	6.4e-05	0	10	397				
ASXL2	55252	broad.mit.edu	37	2	25973143	25973143	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:25973143G>C	ENST00000435504.4	-	12	1575	c.1282C>G	c.(1282-1284)Cag>Gag	p.Q428E	ASXL2_ENST00000404843.1_Missense_Mutation_p.Q168E|ASXL2_ENST00000336112.4_Missense_Mutation_p.Q400E|ASXL2_ENST00000272341.4_Missense_Mutation_p.Q168E			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	428					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.Q168E(1)|p.Q428E(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTCTGACTGGGAGACTACT	0.458																																							uc002rgs.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1282-1284)CAG>GAG		additional sex combs like 2							276.0	269.0	271.0					2																	25973143		1925	4131	6056	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25973143G>C			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1282C>G	2.37:g.25973143G>C	ENSP00000391447:p.Gln428Glu					ASXL2_uc002rgt.1_Missense_Mutation_p.Q168E	p.Q428E	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			11	1503	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		428					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.1282C>G		.	.	.	.	.	.	.	.	.	.	G	9.868	1.198122	0.22037	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.16597	2.33;2.33;2.36;2.36	5.79	4.87	0.63330	.	0.667362	0.15270	N	0.271318	T	0.16214	0.0390	L	0.46157	1.445	0.19945	N	0.999944	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.33317	-0.9873	10	0.06236	T	0.91	0.3389	17.2946	0.87167	0.0:0.1361:0.8639:0.0	.	168;428	Q76L83-2;Q76L83	.;ASXL2_HUMAN	E	428;400;168;168	ENSP00000391447:Q428E;ENSP00000337250:Q400E;ENSP00000383920:Q168E;ENSP00000272341:Q168E	ENSP00000272341:Q168E	Q	-	1	0	ASXL2	25826647	0.581000	0.26741	0.921000	0.36526	0.813000	0.45954	1.924000	0.40065	2.731000	0.93534	0.591000	0.81541	CAG		0.458	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		9	447	0	0	0	3.86212e-05	0	9	447				
CGREF1	10669	broad.mit.edu	37	2	27324192	27324192	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:27324192G>T	ENST00000260595.5	-	7	1148	c.856C>A	c.(856-858)Caa>Aaa	p.Q286K	CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000402394.1_Missense_Mutation_p.Q303K|CGREF1_ENST00000312734.4_Missense_Mutation_p.Q303K|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000404694.3_Missense_Mutation_p.Q425K|CGREF1_ENST00000405600.1_Missense_Mutation_p.Q303K			Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	286					cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGTCATTTTGGGTGTTCTTA	0.537																																							uc010eys.1		NA																	0				ovary(1)	1						c.(856-858)CAA>AAA		cell growth regulator with EF-hand domain 1							188.0	187.0	187.0					2																	27324192		2203	4300	6503	SO:0001583	missense	10669				cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding	g.chr2:27324192G>T	BC034764	CCDS33162.1, CCDS33162.2, CCDS54339.1	2p23.3	2013-01-10			ENSG00000138028	ENSG00000138028		"""EF-hand domain containing"""	16962	protein-coding gene	gene with protein product		606137				8968090	Standard	NM_006569		Approved	CGR11	uc002riq.3	Q99674	OTTHUMG00000152009	ENST00000260595.5:c.856C>A	2.37:g.27324192G>T	ENSP00000260595:p.Gln286Lys					CGREF1_uc010ylf.1_Intron|CGREF1_uc002rip.1_Intron|CGREF1_uc002riq.2_Missense_Mutation_p.Q303K|CGREF1_uc010eyr.1_Missense_Mutation_p.Q408K|CGREF1_uc002rir.1_Missense_Mutation_p.Q286K|CGREF1_uc002ris.2_Silent_p.P286P	p.Q286K	NM_006569	NP_006560	Q99674	CGRE1_HUMAN			7	998	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		286					A6NHV7|B4DXY8|B5MCB7|B5MCC9|B5MCP5|E7EU99|Q8N4B7	Missense_Mutation	SNP	ENST00000260595.5	37	c.856C>A		.	.	.	.	.	.	.	.	.	.	G	11.51	1.658920	0.29515	.	.	ENSG00000138028	ENST00000402394;ENST00000405600;ENST00000389521;ENST00000312734;ENST00000404694;ENST00000260595	T;T;T;T;T	0.77229	-1.01;-1.01;-1.01;-1.08;-1.01	4.89	4.01	0.46588	.	0.348277	0.27052	N	0.021161	T	0.68155	0.2970	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.62172	-0.6910	9	0.66056	D	0.02	-5.7151	9.2667	0.37645	0.0973:0.0:0.9027:0.0	.	286	Q99674	CGRE1_HUMAN	K	303;303;286;303;425;286	ENSP00000385452:Q303K;ENSP00000386113:Q303K;ENSP00000324025:Q303K;ENSP00000385574:Q425K;ENSP00000260595:Q286K	ENSP00000260595:Q286K	Q	-	1	0	CGREF1	27177696	0.016000	0.18221	0.017000	0.16124	0.019000	0.09904	1.173000	0.31920	1.310000	0.45006	-0.219000	0.12488	CAA		0.537	CGREF1-201	KNOWN	basic	protein_coding	protein_coding		NM_006569		11	215	1	0	0.000219431	0.000219431	0.00454042	11	215				
ABHD1	84696	broad.mit.edu	37	2	27353581	27353581	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:27353581C>A	ENST00000316470.4	+	9	1301	c.1187C>A	c.(1186-1188)gCt>gAt	p.A396D	PREB_ENST00000416802.1_5'Flank	NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	396						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)	p.A396D(1)		endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCTCAGGGCTCTCTTACCT	0.512																																							uc002rit.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1186-1188)GCT>GAT		abhydrolase domain-containing protein 1							64.0	63.0	63.0					2																	27353581		2203	4300	6503	SO:0001583	missense	84696					integral to membrane	carboxylesterase activity	g.chr2:27353581C>A	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"""Abhydrolase domain containing"""	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.1187C>A	2.37:g.27353581C>A	ENSP00000326491:p.Ala396Asp					ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_RNA	p.A396D	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN			9	1347	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		396					B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Missense_Mutation	SNP	ENST00000316470.4	37	c.1187C>A	CCDS1736.1	.	.	.	.	.	.	.	.	.	.	C	0.043	-1.276921	0.01410	.	.	ENSG00000143994	ENST00000316470	T	0.14516	2.5	5.5	-0.343	0.12632	.	1.115090	0.06867	N	0.800127	T	0.07548	0.0190	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41963	-0.9479	10	0.23302	T	0.38	-3.7106	4.6704	0.12685	0.2855:0.4672:0.0:0.2473	.	396	Q96SE0	ABHD1_HUMAN	D	396	ENSP00000326491:A396D	ENSP00000326491:A396D	A	+	2	0	ABHD1	27207085	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.041000	0.13927	0.006000	0.14734	-0.251000	0.11542	GCT		0.512	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		23	40	1	0	3.7963e-18	0.00047179	9.27836e-17	23	40				
TCF23	150921	broad.mit.edu	37	2	27375691	27375691	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:27375691C>A	ENST00000296096.5	+	3	731	c.601C>A	c.(601-603)Ctc>Atc	p.L201I		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	201					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)		p.L201I(1)		large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAGATGCTCTCCTTTCCAC	0.537																																							uc010ylg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(601-603)CTC>ATC		transcription factor 23							136.0	133.0	134.0					2																	27375691		2203	4300	6503	SO:0001583	missense	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27375691C>A	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"""Basic helix-loop-helix proteins"""	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.601C>A	2.37:g.27375691C>A	ENSP00000296096:p.Leu201Ile						p.L201I	NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN			3	601	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		201					B2RNZ3	Missense_Mutation	SNP	ENST00000296096.5	37	c.601C>A	CCDS33163.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754921	0.31046	.	.	ENSG00000163792	ENST00000296096	D	0.97772	-4.53	5.32	-0.465	0.12157	.	1.348740	0.04871	N	0.445905	D	0.94853	0.8337	L	0.57536	1.79	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	D	0.83601	0.0128	10	0.23302	T	0.38	-0.1184	1.6039	0.02680	0.2737:0.4108:0.1345:0.181	.	201	Q7RTU1	TCF23_HUMAN	I	201	ENSP00000296096:L201I	ENSP00000296096:L201I	L	+	1	0	TCF23	27229195	0.000000	0.05858	0.001000	0.08648	0.068000	0.16541	-0.597000	0.05713	-0.019000	0.14055	-0.140000	0.14226	CTC		0.537	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		64	81	1	0	2.165e-29	0.000147903	5.62083e-28	64	81				
IFT172	26160	broad.mit.edu	37	2	27708286	27708286	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:27708286G>T	ENST00000260570.3	-	2	227	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	IFT172_ENST00000416524.2_Missense_Mutation_p.L21M|IFT172_ENST00000359466.6_Missense_Mutation_p.L42M	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	42					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)		p.L42M(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCATCATACAGCAAGACCACT	0.458																																							uc002rku.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(124-126)CTG>ATG		selective LIM binding factor homolog							202.0	178.0	187.0					2																	27708286		2203	4300	6503	SO:0001583	missense	26160				cilium assembly	cilium	binding	g.chr2:27708286G>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.124C>A	2.37:g.27708286G>T	ENSP00000260570:p.Leu42Met					IFT172_uc002rkw.2_Missense_Mutation_p.L42M|IFT172_uc010yls.1_Missense_Mutation_p.L21M|IFT172_uc010ezc.2_Missense_Mutation_p.L42M|IFT172_uc002rkv.2_Missense_Mutation_p.L42M|IFT172_uc010ylt.1_Missense_Mutation_p.L42M	p.L42M	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			2	175	-	Acute lymphoblastic leukemia(172;0.155)		42			WD 1.		A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.124C>A	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006059	0.74932	.	.	ENSG00000138002	ENST00000260570;ENST00000359466;ENST00000416524	T;T;T	0.70631	-0.5;-0.5;1.29	5.73	4.85	0.62838	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	D	0.83663	0.5303	M	0.86028	2.79	0.58432	D	0.999998	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.986;0.996;0.986;0.996	D	0.85104	0.0959	10	0.72032	D	0.01	-9.0547	10.1756	0.42937	0.154:0.0:0.846:0.0	.	42;42;42;42;42	B4E3C1;A5PKZ0;Q9UG01-2;E7EP25;Q9UG01	.;.;.;.;IF172_HUMAN	M	42;42;21	ENSP00000260570:L42M;ENSP00000352443:L42M;ENSP00000407408:L21M	ENSP00000260570:L42M	L	-	1	2	IFT172	27561790	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.921000	0.56454	2.707000	0.92482	0.557000	0.71058	CTG		0.458	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		46	82	1	0	5.85753e-14	0.000147903	1.37777e-12	46	82				
PLB1	151056	broad.mit.edu	37	2	28812874	28812874	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:28812874G>C	ENST00000327757.5	+	29	2063	c.2019G>C	c.(2017-2019)ctG>ctC	p.L673L	PLB1_ENST00000422425.2_Silent_p.L662L|PLB1_ENST00000329020.6_Silent_p.L361L	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	673	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.L673L(1)|p.L662L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TTGTTTAGCTGGAGCCTGTTG	0.542																																							uc002rmb.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(2017-2019)CTG>CTC		phospholipase B1 precursor							130.0	128.0	129.0					2																	28812874		2203	4300	6503	SO:0001819	synonymous_variant	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28812874G>C		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2019G>C	2.37:g.28812874G>C						PLB1_uc010ezj.1_Silent_p.L662L|PLB1_uc002rmc.2_Silent_p.L361L|PLB1_uc002rmd.1_Silent_p.L183L	p.L673L	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			29	2019	+	Acute lymphoblastic leukemia(172;0.155)		673			4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential).		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	c.2019G>C	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963091	0.34659	.	.	ENSG00000163803	ENST00000404858	.	.	.	5.73	4.84	0.62591	.	.	.	.	.	T	0.63117	0.2484	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61744	-0.7000	4	.	.	.	-16.1861	11.3887	0.49800	0.0847:0.0:0.9153:0.0	.	.	.	.	S	661	.	.	W	+	2	0	PLB1	28666378	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	2.983000	0.49345	1.530000	0.49136	0.655000	0.94253	TGG		0.542	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			5	246	0	0	0	3.59834e-05	0	5	246				
SOS1	6654	broad.mit.edu	37	2	39262581	39262581	+	Missense_Mutation	SNP	C	C	A	rs397517180		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:39262581C>A	ENST00000426016.1	-	8	1011	c.925G>T	c.(925-927)Gat>Tat	p.D309Y	SOS1_ENST00000402219.2_Missense_Mutation_p.D309Y|SOS1_ENST00000428721.2_Missense_Mutation_p.D252Y|SOS1_ENST00000395038.2_Missense_Mutation_p.D309Y			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	309	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.		D -> Y (in NS4). {ECO:0000269|PubMed:17143285}.		apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D309Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AGGAAACGATCATGAAAACCA	0.328									Noonan syndrome																														uc002rrk.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10	GRCh37	CM070284	SOS1	M		c.(925-927)GAT>TAT		son of sevenless homolog 1							76.0	79.0	78.0					2																	39262581		2203	4300	6503	SO:0001583	missense	6654	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr2:39262581C>A	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.925G>T	2.37:g.39262581C>A	ENSP00000387784:p.Asp309Tyr					SOS1_uc010ynr.1_RNA|SOS1_uc002rrj.3_5'Flank|SOS1_uc002rrl.2_Missense_Mutation_p.D41Y	p.D309Y	NM_005633	NP_005624	Q07889	SOS1_HUMAN			7	966	-		all_hematologic(82;0.21)	309		D -> Y (in NS4).	DH.		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	c.925G>T	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216781	0.79352	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879;ENST00000428721	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.55	5.55	0.83447	Dbl homology (DH) domain (5);	0.200443	0.52532	D	0.000079	T	0.70046	0.3179	L	0.42245	1.32	0.54753	D	0.999981	D;D	0.58620	0.983;0.974	P;P	0.55508	0.777;0.774	T	0.72304	-0.4333	10	0.72032	D	0.01	.	19.5053	0.95113	0.0:1.0:0.0:0.0	.	41;309	F5GX06;Q07889	.;SOS1_HUMAN	Y	309;309;41;309;309;252	ENSP00000387784:D309Y;ENSP00000384675:D309Y;ENSP00000378479:D309Y;ENSP00000399992:D252Y	ENSP00000263879:D309Y	D	-	1	0	SOS1	39116085	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	5.215000	0.65241	2.613000	0.88420	0.650000	0.86243	GAT		0.328	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3	NM_005633		38	70	1	0	1.57019e-19	0.000319135	3.87897e-18	38	70				
DYNC2LI1	51626	broad.mit.edu	37	2	44016823	44016823	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:44016823G>T	ENST00000260605.8	+	5	383	c.283G>T	c.(283-285)Gac>Tac	p.D95Y	DYNC2LI1_ENST00000398823.2_Missense_Mutation_p.D95Y|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.D95Y|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.D95Y|DYNC2LI1_ENST00000443170.3_5'UTR	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	95					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)	p.D95Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTCTTTATTGGACTTAATCAG	0.403																																							uc002rtk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(283-285)GAC>TAC		dynein 2 light intermediate chain isoform 1							129.0	125.0	127.0					2																	44016823		2203	4300	6503	SO:0001583	missense	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44016823G>T		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.283G>T	2.37:g.44016823G>T	ENSP00000260605:p.Asp95Tyr					DYNC2LI1_uc002rth.2_Missense_Mutation_p.D95Y|DYNC2LI1_uc002rti.2_Missense_Mutation_p.D95Y|DYNC2LI1_uc002rtj.2_Missense_Mutation_p.D95Y|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.D95Y|DYNC2LI1_uc010ynz.1_5'UTR	p.D95Y	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN			5	379	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	95					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	c.283G>T	CCDS1813.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.668390|4.668390	0.88348|0.88348	.|.	.|.	ENSG00000138036|ENSG00000138036	ENST00000260605;ENST00000406852;ENST00000398823|ENST00000378587	T;T;T|.	0.30448|.	2.25;1.53;1.53|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.042969|.	0.85682|.	D|.	0.000000|.	T|T	0.76630|0.76630	0.4014|0.4014	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.71674|.	0.991;0.993;0.997;0.998;0.998|.	P;D;P;D;D|.	0.74348|.	0.861;0.914;0.861;0.983;0.976|.	T|T	0.74506|0.74506	-0.3643|-0.3643	10|5	0.46703|.	T|.	0.11|.	-13.925|-13.925	19.5755|19.5755	0.95441|0.95441	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	95;95;95;95;95|.	Q8TCX1-2;Q8TCX1;Q8TCX1-3;Q8TCX1-5;Q8TCX1-4|.	.;DC2L1_HUMAN;.;.;.|.	Y|C	95|78	ENSP00000260605:D95Y;ENSP00000385738:D95Y;ENSP00000381804:D95Y|.	ENSP00000260605:D95Y|.	D|W	+|+	1|3	0|0	DYNC2LI1|DYNC2LI1	43870327|43870327	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	8.323000|8.323000	0.90002|0.90002	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GAC|TGG		0.403	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008		53	93	1	0	1.02487e-32	0.000147903	2.67087e-31	53	93				
PPM1B	5495	broad.mit.edu	37	2	44459476	44459477	+	IGR	DNP	CC	CC	AA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:44459476_44459477CC>AA	ENST00000282412.4	+	0	2606				PPM1B_ENST00000378551.2_Missense_Mutation_p.P386K|PPM1B_ENST00000378540.4_Intron	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B						cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.P386K(1)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTAGAAGACCCATGGTAGCCT	0.327																																							uc002rtw.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)|skin(1)	2						c.(1156-1158)CCA>AAA		protein phosphatase 1B isoform 2																																				SO:0001628	intergenic_variant	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44459476_44459477CC>AA	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	Exception_encountered	2.37:g.44459476_44459477delinsAA						PPM1B_uc002rtx.2_Intron	p.P386K	NM_177968	NP_808907	O75688	PPM1B_HUMAN			6	1584_1585	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Error:Variant_position_missing_in_O75688_after_alignment					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Missense_Mutation	DNP	ENST00000282412.4	37	c.1156_1157CC>AA	CCDS1817.1																																																																																				0.327	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	NM_002706		9	318	0	0	0	6.4e-05	0	9	318				
NRXN1	9378	broad.mit.edu	37	2	50149313	50149313	+	Silent	SNP	C	C	G	rs369748793		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:50149313C>G	ENST00000406316.2	-	22	5679	c.4203G>C	c.(4201-4203)acG>acC	p.T1401T	NRXN1_ENST00000402717.3_Silent_p.T1423T|NRXN1_ENST00000342183.5_Silent_p.T366T|NRXN1_ENST00000404971.1_Silent_p.T1471T|NRXN1_ENST00000401669.2_Silent_p.T1431T|NRXN1_ENST00000405472.3_Silent_p.T1423T|NRXN1_ENST00000406859.3_Silent_p.T1401T|NRXN1_ENST00000401710.1_Silent_p.T419T	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1401					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.T366T(2)|p.T1401T(1)|p.T1472T(1)|p.T1471T(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)			CGACCATACCCGTGGTGCTGC	0.552																																							uc010fbp.2		NA																	5	Substitution - coding silent(5)		lung(4)|large_intestine(1)	ovary(2)	2						c.(1096-1098)ACG>ACC		neurexin 1 isoform beta precursor							93.0	76.0	82.0					2																	50149313		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.chr2:50149313C>G	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.4203G>C	2.37:g.50149313C>G						NRXN1_uc002rxb.3_Silent_p.T1100T|NRXN1_uc010fbq.2_Silent_p.T1471T|NRXN1_uc002rxe.3_Silent_p.T1401T|NRXN1_uc010yon.1_Silent_p.T66T|NRXN1_uc002rxa.3_Silent_p.T63T	p.T366T	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	1905	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	366			Helical; (Potential).		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.1098G>C	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.096|3.096	-0.185881|-0.185881	0.06340|0.06340	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000378262|ENST00000412315	.|.	.|.	.|.	5.97|5.97	-4.09|-4.09	0.03951|0.03951	.|.	.|.	.|.	.|.	.|.	T|T	0.38134|0.38134	0.1029|0.1029	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35992|0.35992	-0.9766|-0.9766	4|4	.|.	.|.	.|.	.|.	1.7802|1.7802	0.03030|0.03030	0.3857:0.2624:0.0796:0.2723|0.3857:0.2624:0.0796:0.2723	.|.	.|.	.|.	.|.	R|P	68|134	.|.	.|.	G|R	-|-	1|2	0|0	NRXN1|NRXN1	50002817|50002817	0.001000|0.001000	0.12720|0.12720	0.952000|0.952000	0.39060|0.39060	0.954000|0.954000	0.61252|0.61252	-1.296000|-1.296000	0.02762|0.02762	-0.692000|-0.692000	0.05128|0.05128	-0.989000|-0.989000	0.02550|0.02550	GGG|CGG		0.552	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	47	0	0	0	1.23904e-05	0	4	47				
COMMD1	150684	broad.mit.edu	37	2	62132853	62132853	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:62132853G>C	ENST00000311832.5	+	1	72	c.40G>C	c.(40-42)Ggg>Cgg	p.G14R	COMMD1_ENST00000538736.1_Missense_Mutation_p.G14R|COMMD1_ENST00000472729.1_Intron	NM_152516.2	NP_689729.1	Q8N668	COMD1_HUMAN	copper metabolism (Murr1) domain containing 1	14					copper ion homeostasis (GO:0055070)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of protein ubiquitination (GO:0031398)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.G14R(1)		large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			ACCCCTGAGCGGGCTGCTGAA	0.682																																							uc002sbp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(40-42)GGG>CGG		MURR1							17.0	20.0	19.0					2																	62132853		2203	4300	6503	SO:0001583	missense	150684				copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	cell junction|Cul2-RING ubiquitin ligase complex|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity	g.chr2:62132853G>C	BC022046	CCDS1869.1	2p15	2004-03-02	2004-02-13	2004-02-18	ENSG00000173163	ENSG00000173163			23024	protein-coding gene	gene with protein product	"""copper metabolism gene MURR1"""	607238	"""chromosome 2 open reading frame 5 (MURR1)"""	C2orf5		9001233, 11809725	Standard	NM_152516		Approved	MURR1, MGC27155	uc002sbp.3	Q8N668	OTTHUMG00000129445	ENST00000311832.5:c.40G>C	2.37:g.62132853G>C	ENSP00000308236:p.Gly14Arg						p.G14R	NM_152516	NP_689729	Q8N668	COMD1_HUMAN	LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)		1	51	+	Lung NSC(7;0.035)|all_lung(7;0.0691)		14					B4DFQ4|Q96GS0	Missense_Mutation	SNP	ENST00000311832.5	37	c.40G>C	CCDS1869.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820627	0.50633	.	.	ENSG00000173163	ENST00000311832;ENST00000538736	T;T	0.09723	2.95;2.95	5.6	3.75	0.43078	.	0.173838	0.49305	D	0.000145	T	0.26774	0.0655	M	0.66939	2.045	0.43110	D	0.994812	D	0.89917	1.0	D	0.87578	0.998	T	0.01013	-1.1481	10	0.87932	D	0	.	7.1371	0.25535	0.087:0.0:0.7447:0.1683	.	14	Q8N668	COMD1_HUMAN	R	14	ENSP00000308236:G14R;ENSP00000438961:G14R	ENSP00000308236:G14R	G	+	1	0	COMMD1	61986357	1.000000	0.71417	0.858000	0.33744	0.150000	0.21749	5.190000	0.65104	0.684000	0.31448	0.655000	0.94253	GGG		0.682	COMMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251607.2	NM_152516		3	14	0	0	0	6.4e-05	0	3	14				
RAB11FIP5	26056	broad.mit.edu	37	2	73303311	73303311	+	Splice_Site	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:73303311C>A	ENST00000258098.6	-	4	1809		c.e4-1		RAB11FIP5_ENST00000493523.2_Splice_Site	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)						cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)	p.?(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GGGGTGGGGACTGCAAAGACA	0.627																																							uc002siu.3		NA																	1	Unknown(1)		lung(1)		0						c.e4-1		RAB11 family interacting protein 5 (class I)							80.0	90.0	87.0					2																	73303311		2203	4300	6503	SO:0001630	splice_region_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73303311C>A	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1569-1G>T	2.37:g.73303311C>A						RAB11FIP5_uc002sis.3_Splice_Site|RAB11FIP5_uc002sit.3_Splice_Site_p.S445_splice	p.S523_splice	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			4	1810	-								O94939|Q9P0M1	Splice_Site	SNP	ENST00000258098.6	37	c.1569_splice	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003611	0.54254	.	.	ENSG00000135631	ENST00000258098	.	.	.	5.29	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7437	0.69474	0.0:0.8542:0.1458:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RAB11FIP5	73156819	1.000000	0.71417	0.946000	0.38457	0.714000	0.41099	4.661000	0.61518	1.330000	0.45394	0.637000	0.83480	.		0.627	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470	Intron	54	76	1	0	1.19403e-26	0.000147903	3.05389e-25	54	76				
CTNNA2	1496	broad.mit.edu	37	2	80801386	80801386	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:80801386C>G	ENST00000402739.4	+	12	1845	c.1840C>G	c.(1840-1842)Cgc>Ggc	p.R614G	CTNNA2_ENST00000541047.1_Missense_Mutation_p.R614G|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R293G|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R614G|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R614G|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R648G|AC008067.2_ENST00000430876.1_RNA|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R614G	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	614					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.R614G(1)|p.L615V(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGATGCCTCTCGCCTGGTGTA	0.527																																							uc010ysh.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1840-1842)CGC>GGC		catenin, alpha 2 isoform 1							173.0	165.0	167.0					2																	80801386		2144	4277	6421	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80801386C>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1840C>G	2.37:g.80801386C>G	ENSP00000384638:p.Arg614Gly					CTNNA2_uc010yse.1_Missense_Mutation_p.R614G|CTNNA2_uc010ysf.1_Missense_Mutation_p.R614G|CTNNA2_uc010ysg.1_Missense_Mutation_p.R614G|CTNNA2_uc010ysi.1_Missense_Mutation_p.R246G	p.R614G	NM_004389	NP_004380	P26232	CTNA2_HUMAN			12	1845	+			614					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1840C>G		.	.	.	.	.	.	.	.	.	.	C	26.8	4.771292	0.90108	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.75	5.75	0.90469	.	0.061993	0.64402	D	0.000005	T	0.58652	0.2137	M	0.80183	2.485	0.80722	D	1	P;P;P;P	0.45569	0.861;0.647;0.732;0.732	P;P;B;B	0.49887	0.625;0.534;0.399;0.399	T	0.59542	-0.7435	9	.	.	.	.	18.1307	0.89600	0.0:1.0:0.0:0.0	.	246;614;614;614	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	G	614;614;648;614;614;614;293	ENSP00000418191:R614G;ENSP00000419295:R614G;ENSP00000355398:R648G;ENSP00000384638:R614G;ENSP00000444675:R614G;ENSP00000441705:R614G;ENSP00000341500:R293G	.	R	+	1	0	CTNNA2	80654897	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.764000	0.85297	2.732000	0.93576	0.655000	0.94253	CGC		0.527	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		5	154	0	0	0	3.59834e-05	0	5	154				
POLR1A	25885	broad.mit.edu	37	2	86266540	86266540	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:86266540G>C	ENST00000263857.6	-	26	4164	c.3786C>G	c.(3784-3786)ccC>ccG	p.P1262P	POLR1A_ENST00000409681.1_Silent_p.P1262P			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1262					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)	p.P1262P(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CGCTCATCATGGGTGTCTTGA	0.532																																							uc002sqs.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(3784-3786)CCC>CCG		DNA-directed RNA polymerase I A							252.0	248.0	250.0					2																	86266540		1994	4162	6156	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86266540G>C	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3786C>G	2.37:g.86266540G>C						POLR1A_uc010ytb.1_Silent_p.P628P|POLR1A_uc002sqt.1_Silent_p.P285P	p.P1262P	NM_015425	NP_056240	O95602	RPA1_HUMAN			26	4165	-			1262					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.3786C>G	CCDS42706.1																																																																																				0.532	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		6	281	0	0	0	3.59834e-05	0	6	281				
CD8B	926	broad.mit.edu	37	2	87042749	87042750	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:87042749_87042750GG>TT	ENST00000349455.3	-	5	671_672	c.622_623CC>AA	c.(622-624)CCa>AAa	p.P208K	CD8B_ENST00000331469.2_Missense_Mutation_p.P238K|CD8B_ENST00000393759.2_3'UTR|CD8B_ENST00000393761.2_Missense_Mutation_p.H196N	NM_172102.3	NP_742100.1	P10966	CD8B_HUMAN	CD8b molecule	0					immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)	p.P238S(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CAGGATCCATGGGTTAAGCAGC	0.48																																							uc002srw.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(712-714)CCA>AAA		CD8b antigen isoform 2 precursor																																				SO:0001583	missense	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87042749_87042750GG>TT		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000349455.3:c.622_623delinsTT	2.37:g.87042749_87042750delinsTT	ENSP00000340592:p.Pro208Lys					RMND5A_uc002srs.3_Intron|CD8B_uc002srx.2_3'UTR|CD8B_uc002sry.2_Missense_Mutation_p.P208K|CD8B_uc010fgt.2_Missense_Mutation_p.H196N	p.P238K	NM_172213	NP_757362	P10966	CD8B_HUMAN			6	762_763	-			Error:Variant_position_missing_in_P10966_after_alignment					P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	DNP	ENST00000349455.3	37	c.712_713CC>AA	CCDS1994.1																																																																																				0.480	CD8B-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252594.1	NM_172099		12	583	0	0	0	6.4e-05	0	12	583				
ZNF514	84874	broad.mit.edu	37	2	95815548	95815548	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:95815548C>G	ENST00000295208.2	-	5	1144	c.682G>C	c.(682-684)Gga>Cga	p.G228R	MRPS5_ENST00000475040.1_5'Flank|ZNF514_ENST00000411425.1_Missense_Mutation_p.G228R	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	228					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.G228R(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11						GGCTTTTCTCCAGTGTGACAT	0.428																																							uc002sue.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(682-684)GGA>CGA		zinc finger protein 514							131.0	136.0	134.0					2																	95815548		2203	4300	6503	SO:0001583	missense	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95815548C>G	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.682G>C	2.37:g.95815548C>G	ENSP00000295208:p.Gly228Arg					ZNF514_uc002sud.1_Missense_Mutation_p.G301R	p.G228R	NM_032788	NP_116177	Q96K75	ZN514_HUMAN			5	1056	-			228					Q5JPJ3	Missense_Mutation	SNP	ENST00000295208.2	37	c.682G>C	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396764	0.62177	.	.	ENSG00000144026	ENST00000295208;ENST00000411425;ENST00000542127	T;T	0.26223	1.75;1.75	3.18	2.29	0.28610	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36386	0.0965	L	0.41906	1.305	0.38504	D	0.948291	D;D	0.71674	0.998;0.997	D;D	0.73708	0.933;0.981	T	0.22661	-1.0210	9	0.66056	D	0.02	.	8.1469	0.31117	0.0:0.8757:0.0:0.1242	.	228;47	Q96K75;Q658L7	ZN514_HUMAN;.	R	228;228;13	ENSP00000295208:G228R;ENSP00000405509:G228R	ENSP00000295208:G228R	G	-	1	0	ZNF514	95179275	0.140000	0.22579	1.000000	0.80357	0.995000	0.86356	2.014000	0.40951	0.893000	0.36288	0.655000	0.94253	GGA		0.428	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788		5	223	0	0	0	3.59834e-05	0	5	223				
SNRNP200	23020	broad.mit.edu	37	2	96968949	96968950	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:96968949_96968950CG>AT	ENST00000323853.5	-	3	405_406	c.328_329CG>AT	c.(328-330)CGg>ATg	p.R110M	SNRNP200_ENST00000349783.5_Missense_Mutation_p.R110M	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	110					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.R110L(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ATAGGTCTCCCGAGTCTCTTTA	0.455																																							uc002svu.2		NA																	2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(5)|skin(4)|large_intestine(1)	10						c.(328-330)CGG>ATG		activating signal cointegrator 1 complex subunit																																				SO:0001583	missense	23020					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr2:96968949_96968950CG>AT	AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.328_329delinsAT	2.37:g.96968949_96968950delinsAT	ENSP00000317123:p.Arg110Met						p.R110M	NM_014014	NP_054733	O75643	U520_HUMAN			3	414_415	-			110					O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	DNP	ENST00000323853.5	37	c.328_329CG>AT	CCDS2020.1																																																																																				0.455	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252846.2	NM_014014		10	319	0	0	0	6.4e-05	0	10	319				
INPP4A	3631	broad.mit.edu	37	2	99182490	99182490	+	Splice_Site	SNP	A	A	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:99182490A>C	ENST00000523221.1	+	20	2294		c.e20-1		INPP4A_ENST00000074304.5_Splice_Site|INPP4A_ENST00000409540.3_Splice_Site|INPP4A_ENST00000545415.1_Splice_Site|INPP4A_ENST00000409463.1_Splice_Site|INPP4A_ENST00000409016.4_Splice_Site|INPP4A_ENST00000409851.3_Splice_Site			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa						inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.?(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						ACCTTTCTCCAGCGACGGGTT	0.657																																							uc002syy.2		NA																	2	Unknown(2)		lung(2)	kidney(1)	1						c.e22-2		inositol polyphosphate-4-phosphatase, type 1							20.0	21.0	21.0					2																	99182490		1953	4133	6086	SO:0001630	splice_region_variant	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99182490A>C	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2295-1A>C	2.37:g.99182490A>C						INPP4A_uc010yvj.1_Splice_Site_p.R726_splice|INPP4A_uc010yvk.1_Splice_Site_p.R726_splice|INPP4A_uc002syx.2_Splice_Site_p.R760_splice|INPP4A_uc010fik.2_Splice_Site_p.R94_splice	p.R765_splice	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN			22	2688	+								O15326|Q13187|Q53TD8|Q8TC02	Splice_Site	SNP	ENST00000523221.1	37	c.2295_splice	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.693439	0.88735	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000409463;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7153	0.69262	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	INPP4A	98548922	1.000000	0.71417	0.131000	0.22000	0.939000	0.58152	8.561000	0.90715	2.266000	0.75297	0.528000	0.53228	.		0.657	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566	Intron	3	9	0	0	0	0.00024832	0	3	9				
ST6GAL2	84620	broad.mit.edu	37	2	107460085	107460085	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:107460085C>G	ENST00000409382.3	-	2	959	c.349G>C	c.(349-351)Ggg>Cgg	p.G117R	AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.G117R|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.G117R	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	117					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.G117R(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						GATTTTCTCCCCACCTGGGAT	0.532																																							uc002tdq.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(4)|skin(1)	11						c.(349-351)GGG>CGG		ST6 beta-galactosamide							65.0	77.0	73.0					2																	107460085		2191	4295	6486	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.chr2:107460085C>G	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.349G>C	2.37:g.107460085C>G	ENSP00000386942:p.Gly117Arg					ST6GAL2_uc002tdr.2_Missense_Mutation_p.G117R|ST6GAL2_uc002tds.3_Missense_Mutation_p.G117R	p.G117R	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	468	-			117			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.349G>C	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	C	4.464	0.085968	0.08583	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.31247	2.52;2.52;1.5	5.54	-0.176	0.13311	.	0.620082	0.17810	N	0.161251	T	0.14830	0.0358	N	0.22421	0.69	0.09310	N	0.999997	B;B	0.17268	0.021;0.003	B;B	0.18263	0.021;0.005	T	0.16660	-1.0395	10	0.24483	T	0.36	-14.4254	3.0837	0.06271	0.1144:0.4838:0.1123:0.2895	.	117;117	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	R	117	ENSP00000355273:G117R;ENSP00000386942:G117R;ENSP00000387332:G117R	ENSP00000355273:G117R	G	-	1	0	ST6GAL2	106826517	0.032000	0.19561	0.003000	0.11579	0.166000	0.22503	0.040000	0.13905	0.022000	0.15160	0.655000	0.94253	GGG		0.532	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		5	129	0	0	0	3.59834e-05	0	5	129				
IL1A	3552	broad.mit.edu	37	2	113539268	113539268	+	Missense_Mutation	SNP	C	C	G	rs138861340	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:113539268C>G	ENST00000263339.3	-	4	387	c.232G>C	c.(232-234)Ggg>Cgg	p.G78R		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	78					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|response to copper ion (GO:0046688)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	copper ion binding (GO:0005507)|cytokine activity (GO:0005125)	p.G78R(1)		breast(2)|large_intestine(1)|lung(9)	12					Rilonacept(DB06372)	AGAACCTTCCCGTTGGTTGCT	0.478																																							uc002tig.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(232-234)GGG>CGG		interleukin 1, alpha proprotein							214.0	194.0	201.0					2																	113539268		2203	4300	6503	SO:0001583	missense	3552				anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding	g.chr2:113539268C>G	M28983	CCDS2101.1	2q14	2014-01-30			ENSG00000115008	ENSG00000115008		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5991	protein-coding gene	gene with protein product	"""preinterleukin 1 alpha"", ""hematopoietin-1"", ""pro-interleukin-1-alpha"""	147760		IL1		8188271, 2989698	Standard	NM_000575		Approved	IL1F1, IL-1A, IL1-ALPHA	uc002tig.3	P01583	OTTHUMG00000131315	ENST00000263339.3:c.232G>C	2.37:g.113539268C>G	ENSP00000263339:p.Gly78Arg						p.G78R	NM_000575	NP_000566	P01583	IL1A_HUMAN			4	1192	-			78					Q53QF9|Q7RU02	Missense_Mutation	SNP	ENST00000263339.3	37	c.232G>C	CCDS2101.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.651335	0.47362	.	.	ENSG00000115008	ENST00000263339	T	0.14516	2.5	5.78	4.89	0.63831	Interleukin-1 propeptide (1);	0.108147	0.42053	D	0.000763	T	0.31918	0.0812	M	0.73217	2.22	0.33876	D	0.635499	D	0.76494	0.999	D	0.67382	0.951	T	0.29150	-1.0021	10	0.39692	T	0.17	-34.5275	11.2864	0.49224	0.0:0.9124:0.0:0.0876	.	78	P01583	IL1A_HUMAN	R	78	ENSP00000263339:G78R	ENSP00000263339:G78R	G	-	1	0	IL1A	113255739	0.809000	0.29036	0.968000	0.41197	0.208000	0.24298	2.003000	0.40844	2.894000	0.99253	0.655000	0.94253	GGG		0.478	IL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254084.1	NM_000575		5	201	0	0	0	1.23904e-05	0	5	201				
PAX8	7849	broad.mit.edu	37	2	114002024	114002024	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:114002024G>C	ENST00000429538.3	-	4	563	c.369C>G	c.(367-369)ccC>ccG	p.P123P	AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263334.5_Silent_p.P123P|PAX8_ENST00000263335.7_Silent_p.P123P|PAX8_ENST00000348715.5_Silent_p.P123P|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000397647.3_Silent_p.P123P	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	123	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)	p.P123P(1)	PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						AGCTGACACTGGGCACAGTGT	0.552			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	Ovarian(188;7 2067 9084 29802 29892)	uc010yxt.1		NA		Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis 	E	PPARG		follicular thyroid		1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(367-369)CCC>CCG		paired box 8 isoform PAX8A							110.0	123.0	119.0					2																	114002024		2195	4298	6493	SO:0001819	synonymous_variant	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:114002024G>C	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.369C>G	2.37:g.114002024G>C						PAX8_uc010yxu.1_Silent_p.P123P|PAX8_uc010yxv.1_Silent_p.P123P|PAX8_uc002tjm.2_Silent_p.P123P|PAX8_uc002tjn.2_Silent_p.P123P|PAX8_uc010fku.1_Silent_p.P123P|LOC654433_uc002tjq.3_Intron|LOC654433_uc010fks.2_Intron|LOC654433_uc010fkt.2_Intron|LOC654433_uc002tjr.3_Intron	p.P123P	NM_003466	NP_003457	Q06710	PAX8_HUMAN			4	535	-			123			Paired.		Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Silent	SNP	ENST00000429538.3	37	c.369C>G	CCDS46398.1																																																																																				0.552	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			7	149	0	0	0	0.000157383	0	7	149				
CFAP221	200373	broad.mit.edu	37	2	120395970	120395970	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:120395970C>G	ENST00000413369.3	+	20	2197	c.2110C>G	c.(2110-2112)Caa>Gaa	p.Q704E	PCDP1_ENST00000602047.1_Missense_Mutation_p.Q418E	NM_001271049.1	NP_001257978												p.Q418E(1)				Colorectal(110;0.196)					TCCTGTCACCCAAAAGCAGTT	0.537																																							uc002tmb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1252-1254)CAA>GAA		primary ciliary dyskinesia protein 1							102.0	97.0	99.0					2																	120395970		2203	4300	6503	SO:0001583	missense	200373					cilium	calmodulin binding	g.chr2:120395970C>G																												ENST00000413369.3:c.2110C>G	2.37:g.120395970C>G	ENSP00000393222:p.Gln704Glu						p.Q418E	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN			21	2344	+	Colorectal(110;0.196)		704						Missense_Mutation	SNP	ENST00000413369.3	37	c.1252C>G	CCDS33282.2	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530837	0.64860	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	T	0.15952	2.38	5.4	4.53	0.55603	.	0.183475	0.37577	N	0.002036	T	0.22244	0.0536	L	0.46157	1.445	0.80722	D	1	D	0.57571	0.98	P	0.50708	0.648	T	0.01051	-1.1468	10	0.44086	T	0.13	-14.8296	10.1974	0.43062	0.0:0.9105:0.0:0.0895	.	704	Q4G0U5	PCDP1_HUMAN	E	418;704	ENSP00000393222:Q704E	ENSP00000295220:Q418E	Q	+	1	0	AC069154.2	120112440	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	4.324000	0.59228	1.514000	0.48869	0.655000	0.94253	CAA		0.537	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464236.1			4	74	0	0	0	0.00024832	0	4	74				
TUBA3D	113457	broad.mit.edu	37	2	132240385	132240385	+	Silent	SNP	C	C	G	rs553733940		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:132240385C>G	ENST00000321253.6	+	5	1424	c.1317C>G	c.(1315-1317)tcC>tcG	p.S439S	MZT2A_ENST00000410036.2_5'Flank	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	439					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.S439S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GCGTGGATTCCGTGGAAGCTG	0.582																																					Ovarian(137;2059 2432 35543 39401)	Ovarian(137;2059 2432 35543 39401)	uc002tsu.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1315-1317)TCC>TCG		tubulin, alpha 3d							142.0	144.0	144.0					2																	132240385		2203	4300	6503	SO:0001819	synonymous_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132240385C>G	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.1317C>G	2.37:g.132240385C>G							p.S439S	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	5	1424	+			439					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	c.1317C>G	CCDS33290.1																																																																																				0.582	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		4	181	0	0	0	1.23904e-05	0	4	181				
LOC150776	150776	broad.mit.edu	37	2	132277823	132277823	+	RNA	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:132277823A>T	ENST00000438378.2	+	0	2462					NR_026922.1																						CCCCAGGCTCAGCCTGCGCTT	0.687																																							uc002tsz.3		NA																	0					0						c.(403-405)AGC>TGC		Homo sapiens cDNA FLJ41352 fis, clone BRAWH2014645.																																						150776							g.chr2:132277823A>T																													2.37:g.132277823A>T						LOC150776_uc002tsy.3_RNA	p.S135C							3	850	+									Missense_Mutation	SNP	ENST00000438378.2	37	c.403A>T																																																																																					0.687	AC093838.4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331819.7			7	6	0	0	0	0.000274275	0	7	6				
LRP1B	53353	broad.mit.edu	37	2	141264383	141264383	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:141264383C>T	ENST00000389484.3	-	53	9474	c.8503G>A	c.(8503-8505)Gat>Aat	p.D2835N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2835	LDL-receptor class A 18. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D2835N(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)		GGTGACTCATCAGAGCCATCT	0.368										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.(8503-8505)GAT>AAT		low density lipoprotein-related protein 1B							163.0	154.0	157.0					2																	141264383		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141264383C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8503G>A	2.37:g.141264383C>T	ENSP00000374135:p.Asp2835Asn	TSP Lung(27;0.18)					p.D2835N	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)	53	9475	-		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)	2835			Extracellular (Potential).|LDL-receptor class A 18.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8503G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	36	5.631829	0.96682	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99214	-5.57	5.65	5.65	0.86999	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	H	0.98559	4.265	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.97234	0.9886	10	0.87932	D	0	.	19.7319	0.96186	0.0:1.0:0.0:0.0	.	2835	Q9NZR2	LRP1B_HUMAN	N	2835;2773	ENSP00000374135:D2835N	ENSP00000374135:D2835N	D	-	1	0	LRP1B	140980853	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	7.684000	0.84104	2.668000	0.90789	0.655000	0.94253	GAT		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		52	96	0	0	0	0.000147903	0	52	96				
LRP1B	53353	broad.mit.edu	37	2	141598583	141598583	+	Missense_Mutation	SNP	G	G	T	rs199519370	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:141598583G>T	ENST00000389484.3	-	30	5989	c.5018C>A	c.(5017-5019)aCg>aAg	p.T1673K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1673					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.T1673K(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)		ATTAATTTGCGTTTCATCAAA	0.418										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.(5017-5019)ACG>AAG		low density lipoprotein-related protein 1B							136.0	123.0	127.0					2																	141598583		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141598583G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5018C>A	2.37:g.141598583G>T	ENSP00000374135:p.Thr1673Lys	TSP Lung(27;0.18)					p.T1673K	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)	30	5990	-		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)	1673			Extracellular (Potential).|LDL-receptor class B 15.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5018C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.797051	0.50208	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.89552	-2.53	5.44	5.44	0.79542	Six-bladed beta-propeller, TolB-like (1);	0.074341	0.52532	U	0.000071	T	0.72211	0.3432	N	0.02181	-0.65	0.45378	D	0.998365	B	0.26672	0.156	B	0.21151	0.033	T	0.73297	-0.4027	10	0.02654	T	1	.	19.2577	0.93952	0.0:0.0:1.0:0.0	.	1673	Q9NZR2	LRP1B_HUMAN	K	1673;1611	ENSP00000374135:T1673K	ENSP00000374135:T1673K	T	-	2	0	LRP1B	141315053	1.000000	0.71417	0.998000	0.56505	0.882000	0.50991	5.345000	0.65987	2.563000	0.86464	0.460000	0.39030	ACG		0.418	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		36	56	1	0	2.20474e-14	0.000109025	5.21257e-13	36	56				
ZEB2	9839	broad.mit.edu	37	2	145156296	145156296	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:145156296A>C	ENST00000558170.2	-	8	3642	c.2458T>G	c.(2458-2460)Tta>Gta	p.L820V	ZEB2_ENST00000303660.4_Missense_Mutation_p.L820V|ZEB2_ENST00000539609.3_Missense_Mutation_p.L796V|ZEB2_ENST00000409487.3_Missense_Mutation_p.L820V	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	820					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.L820V(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)		TGTTTTGGTAATGACAAGTCT	0.383																																					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.(2458-2460)TTA>GTA		zinc finger homeobox 1b							140.0	138.0	139.0					2																	145156296		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.chr2:145156296A>C	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.2458T>G	2.37:g.145156296A>C	ENSP00000454157:p.Leu820Val					ZEB2_uc002tvv.2_Missense_Mutation_p.L814V|ZEB2_uc010zbm.1_Missense_Mutation_p.L791V|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.L849V	p.L820V	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2938	-			820					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.2458T>G	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	A	8.461	0.855411	0.17106	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.17691	2.27;2.26;2.26	5.42	5.42	0.78866	.	0.067685	0.64402	D	0.000008	T	0.33440	0.0863	L	0.45698	1.435	0.53005	D	0.999969	D;B;B;B	0.89917	1.0;0.003;0.003;0.003	D;B;B;B	0.85130	0.997;0.005;0.003;0.003	T	0.02437	-1.1159	10	0.52906	T	0.07	-4.7117	11.7324	0.51746	0.8528:0.1472:0.0:0.0	.	796;685;819;820	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	V	796;820;820	ENSP00000443792:L796V;ENSP00000302501:L820V;ENSP00000386854:L820V	ENSP00000302501:L820V	L	-	1	2	ZEB2	144872766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.060000	0.49955	2.194000	0.70268	0.533000	0.62120	TTA		0.383	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		74	99	0	0	0	0.000147903	0	74	99				
KIF5C	3800	broad.mit.edu	37	2	149799276	149799276	+	Splice_Site	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:149799276T>A	ENST00000435030.1	+	7	957		c.e7+2		KIF5C_ENST00000414838.2_Splice_Site			O60282	KIF5C_HUMAN	kinesin family member 5C						ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTGTGACAAGTAAGCATGGTG	0.527																																							uc010zbu.1		NA																	2	Unknown(2)		lung(2)	skin(1)	1						c.e7+2		kinesin family member 5C							62.0	62.0	62.0					2																	149799276		1990	4164	6154	SO:0001630	splice_region_variant	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149799276T>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.589+2T>A	2.37:g.149799276T>A							p.N197_splice	NM_004522	NP_004513	O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	7	957	+								O95079|Q2YDC5	Splice_Site	SNP	ENST00000435030.1	37	c.589_splice		.	.	.	.	.	.	.	.	.	.	T	16.45	3.125826	0.56721	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5672	0.76303	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF5C	149507522	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	7.795000	0.85887	2.261000	0.74972	0.482000	0.46254	.		0.527	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	Intron	8	5	0	0	0	0.000157383	0	8	5				
ERMN	57471	broad.mit.edu	37	2	158182141	158182141	+	Missense_Mutation	SNP	G	G	C	rs201076820	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:158182141G>C	ENST00000410096.1	-	1	305	c.14C>G	c.(13-15)cCg>cGg	p.P5R	ERMN_ENST00000409925.1_Missense_Mutation_p.P5R|ERMN_ENST00000535935.1_5'Flank|ERMN_ENST00000420719.2_Missense_Mutation_p.P5R|ERMN_ENST00000397283.2_Missense_Mutation_p.P18R|ERMN_ENST00000409216.1_Missense_Mutation_p.P5R	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	5					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)		p.P18R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						AAATGTAGCCGGAACATCTGT	0.448																																							uc002tzh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(13-15)CCG>CGG		ermin, ERM-like protein isoform b							176.0	160.0	165.0					2																	158182141		1903	4115	6018	SO:0001583	missense	57471					cytoplasm|cytoskeleton		g.chr2:158182141G>C	AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.14C>G	2.37:g.158182141G>C	ENSP00000387047:p.Pro5Arg					ERMN_uc010zcj.1_5'Flank|ERMN_uc010zck.1_Missense_Mutation_p.P5R|ERMN_uc002tzi.2_Missense_Mutation_p.P18R	p.P5R	NM_020711	NP_065762	Q8TAM6	ERMIN_HUMAN			1	276	-			5					B4DKA6|Q9ULN1	Missense_Mutation	SNP	ENST00000410096.1	37	c.14C>G	CCDS46431.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.194734	0.58017	.	.	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000420719;ENST00000420317;ENST00000411762;ENST00000409216;ENST00000409925;ENST00000419116	T;T	0.58210	0.35;0.35	5.64	5.64	0.86602	.	0.186072	0.38164	N	0.001783	T	0.57858	0.2082	L	0.34521	1.04	0.09310	N	1	D;D;D	0.61080	0.989;0.989;0.989	P;P;P	0.60473	0.875;0.875;0.875	T	0.54589	-0.8271	10	0.72032	D	0.01	0.0291	12.2177	0.54416	0.0:0.0:0.83:0.17	.	5;18;5	B4DIZ1;Q8TAM6-2;Q8TAM6	.;.;ERMIN_HUMAN	R	5;18;5;5;5;5;5;5	ENSP00000387049:P5R;ENSP00000387325:P5R	ENSP00000380453:P18R	P	-	2	0	ERMN	157890387	0.719000	0.27986	0.035000	0.18076	0.136000	0.21042	4.152000	0.58111	2.644000	0.89710	0.557000	0.71058	CCG		0.448	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		4	156	0	0	0	1.23904e-05	0	4	156				
IFIH1	64135	broad.mit.edu	37	2	163174366	163174367	+	Splice_Site	DNP	CG	CG	AT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:163174366_163174367CG>AT	ENST00000263642.2	-	1	846_847	c.451_452CG>AT	c.(451-453)CGg>ATg	p.R151M	GCA_ENST00000429691.2_5'Flank|IFIH1_ENST00000421365.2_Splice_Site_p.R151M	NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	151	CARD 2.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.R151R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GACACCTACCCGGTTTCTGTCT	0.49																																							uc002uce.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(451-453)CGG>ATG		interferon induced with helicase C domain 1																																				SO:0001630	splice_region_variant	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163174366_163174367CG>AT	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.451_452delinsAT	2.37:g.163174366_163174367delinsAT						IFIH1_uc002ucf.2_Missense_Mutation_p.R151M	p.R151M	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN			1	673_674	-			151			CARD 2.		Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	DNP	ENST00000263642.2	37	c.451_452CG>AT	CCDS2217.1																																																																																				0.490	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168	Missense_Mutation	13	583	0	0	0	6.4e-05	0	13	583				
SCN9A	6335	broad.mit.edu	37	2	167056049	167056049	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:167056049C>G	ENST00000409435.1	-	26	5099	c.5100G>C	c.(5098-5100)tgG>tgC	p.W1700C	SCN9A_ENST00000375387.4_Missense_Mutation_p.W1701C|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.W1701C|SCN9A_ENST00000409672.1_Missense_Mutation_p.W1689C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1700					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.W1689C(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCAATCCATCCCAGCCAGCAG	0.418																																							uc010fpl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(5)|skin(2)	13	GRCh37	CM072037	SCN9A	M		c.(5065-5067)TGG>TGC		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						191.0	202.0	198.0					2																	167056049		2203	4300	6503	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167056049C>G	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5100G>C	2.37:g.167056049C>G	ENSP00000386330:p.Trp1700Cys					uc002udp.2_Intron	p.W1689C	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			27	5408	-			1700			IV.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.5067G>C	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700117	0.68501	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97850	-4.57;-4.57;-4.57;-4.57	5.86	5.86	0.93980	.	0.000000	0.56097	D	0.000026	D	0.99536	0.9834	H	0.99955	5.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97478	1.0045	10	0.87932	D	0	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	1689	E7EUN6	.	C	1689;1701;1701;1700	ENSP00000386306:W1689C;ENSP00000364536:W1701C;ENSP00000304748:W1701C;ENSP00000386330:W1700C	ENSP00000304748:W1701C	W	-	3	0	SCN9A	166764295	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.566000	0.82347	2.777000	0.95525	0.655000	0.94253	TGG		0.418	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		6	292	0	0	0	3.59834e-05	0	6	292				
XIRP2	129446	broad.mit.edu	37	2	168100039	168100039	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:168100039G>T	ENST00000409195.1	+	9	2226	c.2137G>T	c.(2137-2139)Gtt>Ttt	p.V713F	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V491F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V713F	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	538					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.V713F(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGTGGATGAGGTTCATTTACT	0.363																																							uc002udx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(2137-2139)GTT>TTT		xin actin-binding repeat containing 2 isoform 1							72.0	68.0	69.0					2																	168100039		1908	4114	6022	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100039G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2137G>T	2.37:g.168100039G>T	ENSP00000386840:p.Val713Phe					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V538F|XIRP2_uc010fpq.2_Missense_Mutation_p.V491F|XIRP2_uc010fpr.2_Intron	p.V713F	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	2155	+			538					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2137G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	4.464	0.086030	0.08583	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02606	4.23;4.23;4.23	5.92	0.907	0.19321	.	0.753644	0.13186	N	0.407150	T	0.02649	0.0080	L	0.50333	1.59	0.09310	N	1	B;B;B	0.14438	0.007;0.01;0.01	B;B;B	0.14023	0.005;0.007;0.01	T	0.47433	-0.9118	10	0.28530	T	0.3	0.095	0.6639	0.00847	0.2428:0.2124:0.3313:0.2135	.	538;538;491	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	F	713;713;491	ENSP00000386840:V713F;ENSP00000295237:V713F;ENSP00000387255:V491F	ENSP00000295237:V713F	V	+	1	0	XIRP2	167808285	0.000000	0.05858	0.555000	0.28281	0.997000	0.91878	0.054000	0.14205	-0.106000	0.12110	0.650000	0.86243	GTT		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		14	28	1	0	3.41278e-10	5.01169e-05	7.78771e-09	14	28				
LRP2	4036	broad.mit.edu	37	2	170060754	170060754	+	Silent	SNP	C	C	G	rs140698184	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:170060754C>G	ENST00000263816.3	-	42	8028	c.7743G>C	c.(7741-7743)acG>acC	p.T2581T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2581					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)			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)"""	GATCCACGCCCGTCAGAGTGC	0.423																																							uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(7741-7743)ACG>ACC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						141.0	149.0	146.0					2																	170060754		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.chr2:170060754C>G		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.7743G>C	2.37:g.170060754C>G							p.T2581T	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	42	7956	-			2581			LDL-receptor class B 28.|Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.7743G>C	CCDS2232.1																																																																																				0.423	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		8	264	0	0	0	0.000274275	0	8	264				
HAT1	8520	broad.mit.edu	37	2	172823010	172823010	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:172823010C>G	ENST00000264108.4	+	7	728	c.692C>G	c.(691-693)cCa>cGa	p.P231R	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.P146R	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	231					chromatin organization (GO:0006325)|chromatin silencing at telomere (GO:0006348)|DNA packaging (GO:0006323)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4 acetylation (GO:0043967)|internal protein amino acid acetylation (GO:0006475)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	H4 histone acetyltransferase activity (GO:0010485)|histone acetyltransferase activity (GO:0004402)	p.P231R(1)		breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TATGTGTACCCAGACAAAACC	0.403																																							uc002uhi.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(691-693)CCA>CGA		histone acetyltransferase 1							120.0	115.0	117.0					2																	172823010		2203	4300	6503	SO:0001583	missense	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172823010C>G	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053				9427644	Standard	NM_003642		Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.692C>G	2.37:g.172823010C>G	ENSP00000264108:p.Pro231Arg					HAT1_uc010fqi.2_Missense_Mutation_p.P66R|HAT1_uc002uhj.2_Missense_Mutation_p.P146R	p.P231R	NM_003642	NP_003633	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		7	768	+			231					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	ENST00000264108.4	37	c.692C>G	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300680	0.81136	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.93	5.93	0.95920	Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.84951	0.5586	M	0.85462	2.755	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86036	0.1516	9	0.87932	D	0	-20.8836	20.3334	0.98727	0.0:1.0:0.0:0.0	.	146;231	O14929-2;O14929	.;HAT1_HUMAN	R	146;231	.	ENSP00000264108:P231R	P	+	2	0	HAT1	172531256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.818000	0.97014	0.591000	0.81541	CCA		0.403	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		4	90	0	0	0	1.23904e-05	0	4	90				
SP3	6670	broad.mit.edu	37	2	174820400	174820400	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:174820400C>A	ENST00000310015.6	-	4	1370	c.840G>T	c.(838-840)tcG>tcT	p.S280S	SP3_ENST00000418194.2_Silent_p.S212S|SP3_ENST00000455789.2_Silent_p.S227S|SP3_ENST00000483084.1_5'Flank	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	280					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|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 core promoter sequence-specific DNA binding (GO:0000979)	p.S280S(1)	EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			GAGAACTGCCCGAGAGTCCCA	0.443																																							uc002uig.2		NA																EWSR1/SP3(3)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(838-840)TCG>TCT		Sp3 transcription factor isoform 1							94.0	92.0	93.0					2																	174820400		2203	4300	6503	SO:0001819	synonymous_variant	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174820400C>A	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.840G>T	2.37:g.174820400C>A						SP3_uc002uie.2_Silent_p.S212S|SP3_uc002uif.2_Silent_p.S227S|SP3_uc010zel.1_Silent_p.S277S	p.S280S	NM_003111	NP_003102	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		4	1004	-			280					A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Silent	SNP	ENST00000310015.6	37	c.840G>T	CCDS2254.1	.	.	.	.	.	.	.	.	.	.	C	4.625	0.116180	0.08831	.	.	ENSG00000172845	ENST00000416195	.	.	.	5.79	0.277	0.15668	.	.	.	.	.	T	0.44726	0.1307	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25916	-1.0118	4	.	.	.	.	4.2123	0.10517	0.3881:0.3797:0.1568:0.0753	.	.	.	.	L	237	.	.	R	-	2	0	SP3	174528646	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.426000	0.21363	0.295000	0.22570	0.557000	0.71058	CGG		0.443	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		9	164	1	0	0.000274275	0.000274275	0.00558288	9	164				
TTN	7273	broad.mit.edu	37	2	179407625	179407625	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:179407625G>C	ENST00000591111.1	-	298	92257	c.92033C>G	c.(92032-92034)cCa>cGa	p.P30678R	RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P29751R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P23379R|TTN_ENST00000460472.2_Missense_Mutation_p.P23254R|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P23446R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P32319R|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30678	Ig-like 138.				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.P29751R(1)|p.P23446R(1)|p.P29749R(1)|p.P23379R(1)|p.P23254R(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)			TCTGCCAGCTGGGACATGGAT	0.453																																							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.(89251-89253)CCA>CGA		titin isoform N2-A							253.0	254.0	253.0					2																	179407625		1972	4144	6116	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179407625G>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.92033C>G	2.37:g.179407625G>C	ENSP00000465570:p.Pro30678Arg					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P23446R|TTN_uc010zfi.1_Missense_Mutation_p.P23379R|TTN_uc010zfj.1_Missense_Mutation_p.P23254R	p.P29751R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		297	89476	-			30678					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.89252C>G		.	.	.	.	.	.	.	.	.	.	G	15.54	2.862386	0.51482	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.67	5.67	0.87782	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	0.55369	0.1916	N	0.03209	-0.39	0.47584	D	0.999469	P;P;P;P	0.42518	0.782;0.782;0.782;0.782	P;P;P;P	0.51101	0.659;0.659;0.659;0.659	T	0.67162	-0.5740	9	0.87932	D	0	.	19.773	0.96379	0.0:0.0:1.0:0.0	.	23254;23379;23446;30678	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	29751;23254;23446;23379;23251	ENSP00000343764:P29751R;ENSP00000434586:P23254R;ENSP00000340554:P23446R;ENSP00000352154:P23379R	ENSP00000340554:P23446R	P	-	2	0	TTN	179115871	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.414000	0.59802	2.677000	0.91161	0.655000	0.94253	CCA		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	397	0	0	0	8.12818e-05	0	6	397				
TTN	7273	broad.mit.edu	37	2	179539774	179539774	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:179539774G>C	ENST00000591111.1	-	146	33706	c.33482C>G	c.(33481-33483)cCa>cGa	p.P11161R	TTN_ENST00000342992.6_Missense_Mutation_p.P10234R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P11535R			Q8WZ42	TITIN_HUMAN	titin	11161	Glu-rich.|Pro-rich.				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.P10234R(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)			ACCTTCAACTGGTAGAACTTC	0.323																																							uc010zfg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(30700-30702)CCA>CGA		titin isoform N2-A							84.0	80.0	81.0					2																	179539774		1820	4077	5897	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179539774G>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.33482C>G	2.37:g.179539774G>C	ENSP00000465570:p.Pro11161Arg					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6895R|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_RNA|TTN_uc010frf.1_Intron	p.P10234R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		145	30925	-			11161					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.30701C>G		.	.	.	.	.	.	.	.	.	.	G	10.15	1.271416	0.23221	.	.	ENSG00000155657	ENST00000342992	T	0.78816	-1.21	5.63	3.85	0.44370	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.74718	0.3753	M	0.64170	1.965	0.80722	D	1	B	0.26258	0.145	B	0.25759	0.063	T	0.72481	-0.4280	9	0.87932	D	0	.	12.5895	0.56436	0.1353:0.0:0.8647:0.0	.	11161	Q8WZ42	TITIN_HUMAN	R	10234	ENSP00000343764:P10234R	ENSP00000343764:P10234R	P	-	2	0	TTN	179248019	0.458000	0.25760	0.499000	0.27577	0.674000	0.39518	2.798000	0.47884	0.742000	0.32697	-0.232000	0.12228	CCA		0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	57	0	0	0	0.00024832	0	4	57				
TTN	7273	broad.mit.edu	37	2	179585148	179585149	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:179585148_179585149CC>AA	ENST00000591111.1	-	78	22613_22614	c.22389_22390GG>TT	c.(22387-22392)gtGGga>gtTTga	p.G7464*	TTN_ENST00000342992.6_Nonsense_Mutation_p.G6537*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.G7781*			Q8WZ42	TITIN_HUMAN	titin	13019	Ig-like 56.				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.G6537*(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)			GTGTCACTTCCCACCTCATTAG	0.376																																							uc010zfg.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(19606-19611)GTGGGA>GTTTGA		titin isoform N2-A																																				SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179585148_179585149CC>AA	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.22389_22390delinsAA	2.37:g.179585148_179585149delinsAA	ENSP00000465570:p.Gly7464*					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.G3198*	p.G6537*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		77	19832_19833	-			7464					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	Nonsense_Mutation	DNP	ENST00000591111.1	37	c.19608_19609GG>TT																																																																																					0.376	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		11	201	0	0	0	6.4e-05	0	11	201				
ITGA4	3676	broad.mit.edu	37	2	182347321	182347321	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:182347321C>G	ENST00000397033.2	+	9	1414	c.984C>G	c.(982-984)ccC>ccG	p.P328P		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	328					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.P328P(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TGGGAGCACCCATGCAGAGCA	0.498																																							uc002unu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(982-984)CCC>CCG		integrin alpha 4 precursor	Natalizumab(DB00108)						169.0	169.0	169.0					2																	182347321		2005	4183	6188	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182347321C>G		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.984C>G	2.37:g.182347321C>G						ITGA4_uc010zfl.1_Silent_p.P328P	p.P328P	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		9	1747	+			328			FG-GAP 5.|Extracellular (Potential).		D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.984C>G	CCDS42788.1																																																																																				0.498	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			5	236	0	0	0	1.23904e-05	0	5	236				
ZNF804A	91752	broad.mit.edu	37	2	185801408	185801408	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:185801408C>T	ENST00000302277.6	+	4	1879	c.1285C>T	c.(1285-1287)Ctt>Ttt	p.L429F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	429							metal ion binding (GO:0046872)	p.L429F(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGTACCTGTCCTTAACAAACA	0.373																																							uc002uph.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1285-1287)CTT>TTT		zinc finger protein 804A							122.0	131.0	128.0					2																	185801408		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801408C>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1285C>T	2.37:g.185801408C>T	ENSP00000303252:p.Leu429Phe						p.L429F	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1879	+			429					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1285C>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016569	0.35606	.	.	ENSG00000170396	ENST00000302277	T	0.12255	2.7	5.6	2.85	0.33270	.	0.123348	0.34386	N	0.004018	T	0.14743	0.0356	M	0.78049	2.395	0.39594	D	0.969634	P	0.42993	0.797	B	0.32211	0.142	T	0.06041	-1.0849	10	0.72032	D	0.01	-8.6414	9.8967	0.41322	0.0:0.7806:0.0:0.2194	.	429	Q7Z570	Z804A_HUMAN	F	429	ENSP00000303252:L429F	ENSP00000303252:L429F	L	+	1	0	ZNF804A	185509653	0.767000	0.28508	0.965000	0.40720	0.764000	0.43329	1.507000	0.35758	0.325000	0.23359	0.591000	0.81541	CTT		0.373	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		107	150	0	0	0	0.000147903	0	107	150				
COL5A2	1290	broad.mit.edu	37	2	189945770	189945770	+	Splice_Site	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:189945770C>G	ENST00000374866.3	-	13	1127		c.e13-1			NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2						axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.?(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CACGAGCTCCCTGGGAGGAAA	0.398																																							uc002uqk.2		NA																	1	Unknown(1)		lung(1)	ovary(2)	2						c.e13-1		alpha 2 type V collagen preproprotein							74.0	84.0	80.0					2																	189945770		2203	4300	6503	SO:0001630	splice_region_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189945770C>G	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.853-1G>C	2.37:g.189945770C>G						COL5A2_uc010frx.2_Splice_Site_p.G38_splice	p.G285_splice	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		13	1128	-								P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Splice_Site	SNP	ENST00000374866.3	37	c.853_splice	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198965	0.58126	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2306	0.65890	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL5A2	189654015	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	5.417000	0.66423	2.732000	0.93576	0.555000	0.69702	.		0.398	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	Intron	4	120	0	0	0	0.00024832	0	4	120				
SLC40A1	30061	broad.mit.edu	37	2	190439933	190439933	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:190439933C>G	ENST00000261024.2	-	3	651	c.225G>C	c.(223-225)ctG>ctC	p.L75L	SLC40A1_ENST00000418714.1_5'UTR	NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	75					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)	p.L75L(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			TGATGGCTCCCAGGACCAGAA	0.498																																							uc002uqp.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(223-225)CTG>CTC		solute carrier family 40 (iron-regulated							206.0	208.0	207.0					2																	190439933		2203	4300	6503	SO:0001819	synonymous_variant	30061				anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding	g.chr2:190439933C>G	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.225G>C	2.37:g.190439933C>G						SLC40A1_uc002uqq.2_Silent_p.L75L	p.L75L	NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)		3	576	-			75			Helical; (Potential).		Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Silent	SNP	ENST00000261024.2	37	c.225G>C	CCDS2299.1																																																																																				0.498	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2			6	273	0	0	0	3.59834e-05	0	6	273				
ANKAR	150709	broad.mit.edu	37	2	190606123	190606123	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:190606123C>G	ENST00000520309.1	+	20	3844	c.3756C>G	c.(3754-3756)acC>acG	p.T1252T	ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000313581.4_Silent_p.T1252T|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000431575.2_Silent_p.T1181T	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1252						integral component of membrane (GO:0016021)		p.T1252T(1)|p.T1181T(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAGCATTTACCACATTAGGAA	0.318																																							uc002uqw.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(3541-3543)ACC>ACG		ankyrin and armadillo repeat containing							69.0	70.0	70.0					2																	190606123		2203	4300	6503	SO:0001819	synonymous_variant	150709					integral to membrane	binding	g.chr2:190606123C>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3756C>G	2.37:g.190606123C>G						ANKAR_uc002uqu.2_RNA|ANKAR_uc002uqx.1_RNA|ANKAR_uc002uqy.1_Silent_p.T348T	p.T1181T	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		19	3543	+			1252					Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	c.3543C>G	CCDS33351.2																																																																																				0.318	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		4	107	0	0	0	3.59834e-05	0	4	107				
HIBCH	26275	broad.mit.edu	37	2	191109623	191109623	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:191109623T>A	ENST00000359678.5	-	11	1175	c.881A>T	c.(880-882)gAg>gTg	p.E294V	HIBCH_ENST00000410045.1_Missense_Mutation_p.E71V|HIBCH_ENST00000392332.3_Missense_Mutation_p.E294V	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	294					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)	p.E294V(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CTTCAATTGCTCTAGGGCAAA	0.398																																							uc002uru.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(880-882)GAG>GTG		3-hydroxyisobutyryl-Coenzyme A hydrolase isoform							131.0	132.0	131.0					2																	191109623		2203	4300	6503	SO:0001583	missense	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191109623T>A	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.881A>T	2.37:g.191109623T>A	ENSP00000352706:p.Glu294Val					HIBCH_uc002urv.2_Missense_Mutation_p.E294V	p.E294V	NM_014362	NP_055177	Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		11	964	-			294					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	ENST00000359678.5	37	c.881A>T	CCDS2304.1	.	.	.	.	.	.	.	.	.	.	T	18.37	3.610210	0.66558	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000410045;ENST00000416732;ENST00000409820	T;T	0.74209	-0.82;-0.82	5.23	5.23	0.72850	.	0.045710	0.85682	D	0.000000	T	0.79411	0.4441	M	0.85777	2.775	0.48452	D	0.999652	B;B	0.28439	0.177;0.212	B;B	0.35688	0.132;0.208	T	0.80594	-0.1313	10	0.66056	D	0.02	4.0094	12.9975	0.58654	0.0:0.0:0.0:1.0	.	294;294	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	V	294;294;71;45;74	ENSP00000376144:E294V;ENSP00000352706:E294V	ENSP00000352706:E294V	E	-	2	0	HIBCH	190817868	0.998000	0.40836	0.977000	0.42913	0.989000	0.77384	5.101000	0.64566	2.198000	0.70561	0.528000	0.53228	GAG		0.398	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			64	114	0	0	0	0.000147903	0	64	114				
DNAH7	56171	broad.mit.edu	37	2	196746569	196746569	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:196746569G>T	ENST00000312428.6	-	36	6011	c.5911C>A	c.(5911-5913)Cct>Act	p.P1971T		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1971	AAA 3. {ECO:0000250}.		P -> L (in dbSNP:rs2889109).		cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.P1971T(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AATATTGAAGGCTTTTGATGG	0.373																																							uc002utj.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(5911-5913)CCT>ACT		dynein, axonemal, heavy chain 7							168.0	155.0	159.0					2																	196746569		1849	4096	5945	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196746569G>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5911C>A	2.37:g.196746569G>T	ENSP00000311273:p.Pro1971Thr						p.P1971T	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			36	6012	-			1971			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.5911C>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.114445	0.77210	.	.	ENSG00000118997	ENST00000312428	T	0.53206	0.63	5.34	5.34	0.76211	ATPase, AAA+ type, core (1);	0.056248	0.64402	D	0.000001	T	0.73697	0.3620	H	0.95114	3.625	0.80722	D	1	P	0.45428	0.858	P	0.58130	0.833	T	0.79757	-0.1669	10	0.66056	D	0.02	.	12.1944	0.54288	0.0781:0.0:0.9219:0.0	.	1971	Q8WXX0	DYH7_HUMAN	T	1971	ENSP00000311273:P1971T	ENSP00000311273:P1971T	P	-	1	0	DNAH7	196454814	1.000000	0.71417	0.997000	0.53966	0.901000	0.52897	4.703000	0.61824	2.780000	0.95670	0.585000	0.79938	CCT		0.373	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		60	93	1	0	4.13886e-29	0.000147903	1.0705e-27	60	93				
DNAH7	56171	broad.mit.edu	37	2	196912157	196912157	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:196912157C>A	ENST00000312428.6	-	5	417	c.317G>T	c.(316-318)gGa>gTa	p.G106V	DNAH7_ENST00000410072.1_Missense_Mutation_p.G106V	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	106	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.G106V(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGTAGATGGTCCAACATAACT	0.323																																							uc002utj.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(316-318)GGA>GTA		dynein, axonemal, heavy chain 7							188.0	186.0	187.0					2																	196912157		1839	4082	5921	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196912157C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.317G>T	2.37:g.196912157C>A	ENSP00000311273:p.Gly106Val						p.G106V	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			5	418	-			106			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.317G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	9.576	1.122300	0.20877	.	.	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446;ENST00000427816	T;T	0.24538	1.85;2.58	5.2	2.31	0.28768	.	1.109520	0.06832	N	0.794143	T	0.20941	0.0504	L	0.40543	1.245	0.49051	D	0.999746	B	0.20671	0.047	B	0.21708	0.036	T	0.06643	-1.0815	10	0.18276	T	0.48	.	7.0319	0.24972	0.0:0.5559:0.3512:0.0929	.	106	Q8WXX0	DYH7_HUMAN	V	106;106;106;81	ENSP00000311273:G106V;ENSP00000386260:G106V	ENSP00000311273:G106V	G	-	2	0	DNAH7	196620402	0.586000	0.26782	0.443000	0.26883	0.157000	0.22087	0.457000	0.21875	0.301000	0.22738	0.591000	0.81541	GGA		0.323	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		87	137	1	0	3.07327e-39	0.000147903	8.0549e-38	87	137				
ZDBF2	57683	broad.mit.edu	37	2	207169659	207169659	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:207169659C>T	ENST00000374423.3	+	5	793	c.407C>T	c.(406-408)tCa>tTa	p.S136L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	136							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S136L(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTTCGACCATCAGTTATTCAA	0.448																																							uc002vbp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(406-408)TCA>TTA		zinc finger, DBF-type containing 2							64.0	58.0	60.0					2																	207169659		1885	4120	6005	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207169659C>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.407C>T	2.37:g.207169659C>T	ENSP00000363545:p.Ser136Leu						p.S136L	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	657	+			136					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.407C>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916314	0.92249	.	.	ENSG00000204186	ENST00000374423	T	0.19532	2.14	5.16	5.16	0.70880	.	0.000000	0.30392	N	0.009721	T	0.43590	0.1254	L	0.53249	1.67	0.34195	D	0.67247	D	0.76494	0.999	D	0.71184	0.972	T	0.55879	-0.8071	10	0.72032	D	0.01	.	18.6585	0.91463	0.0:1.0:0.0:0.0	.	136	Q9HCK1	ZDBF2_HUMAN	L	136	ENSP00000363545:S136L	ENSP00000363545:S136L	S	+	2	0	ZDBF2	206877904	0.965000	0.33210	1.000000	0.80357	0.992000	0.81027	2.554000	0.45845	2.402000	0.81655	0.650000	0.86243	TCA		0.448	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		7	25	0	0	0	0.000274275	0	7	25				
CRYGB	1419	broad.mit.edu	37	2	209010521	209010521	+	Missense_Mutation	SNP	G	G	A	rs201502749		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:209010521G>A	ENST00000260988.4	-	2	276	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	77	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)	p.R77C(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CAGCAGGAGCGGATGGAGTCG	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		16095	0.001		0.0	False		,,,				2504	0.0						uc002vcp.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(229-231)CGC>TGC		crystallin, gamma B							45.0	49.0	48.0					2																	209010521		2198	4285	6483	SO:0001583	missense	1419				visual perception		structural constituent of eye lens	g.chr2:209010521G>A		CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"""crystallin, gamma 1-2"""	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.229C>T	2.37:g.209010521G>A	ENSP00000260988:p.Arg77Cys						p.R77C	NM_005210	NP_005201	P07316	CRGB_HUMAN		Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)	2	262	-			77			Beta/gamma crystallin 'Greek key' 2.		Q17RB5|Q53ST2	Missense_Mutation	SNP	ENST00000260988.4	37	c.229C>T	CCDS2380.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.57	2.276697	0.40294	.	.	ENSG00000182187	ENST00000260988	T	0.76839	-1.05	4.71	2.74	0.32292	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.182018	0.49916	D	0.000138	T	0.78342	0.4268	M	0.84683	2.71	0.54753	D	0.999982	P	0.42357	0.777	B	0.40901	0.343	T	0.80732	-0.1251	10	0.59425	D	0.04	.	10.1032	0.42517	0.0:0.0:0.5194:0.4806	.	77	P07316	CRGB_HUMAN	C	77	ENSP00000260988:R77C	ENSP00000260988:R77C	R	-	1	0	CRYGB	208718766	0.950000	0.32346	0.998000	0.56505	0.807000	0.45602	1.516000	0.35856	1.314000	0.45095	0.549000	0.68633	CGC		0.502	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	NM_005210		5	102	0	0	0	3.59834e-05	0	5	102				
PTH2R	5746	broad.mit.edu	37	2	209353827	209353827	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:209353827C>T	ENST00000272847.2	+	11	1380	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	389					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.L389L(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)	TCACTGGGCTCGGGTGGGAGA	0.488																																							uc002vdb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1165-1167)CTC>CTT		parathyroid hormone 2 receptor precursor							200.0	173.0	182.0					2																	209353827		2203	4300	6503	SO:0001819	synonymous_variant	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209353827C>T	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.1167C>T	2.37:g.209353827C>T						PTH2R_uc010zjb.1_Silent_p.L400L|PTH2R_uc010fuo.1_RNA	p.L389L	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	11	1380	+			389			Extracellular (Potential).		Q8N429	Silent	SNP	ENST00000272847.2	37	c.1167C>T	CCDS2383.1																																																																																				0.488	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		29	51	0	0	0	0.000227799	0	29	51				
XRCC5	7520	broad.mit.edu	37	2	217012886	217012886	+	Silent	SNP	C	C	G	rs141533226		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:217012886C>G	ENST00000392133.3	+	16	2018	c.1557C>G	c.(1555-1557)ccC>ccG	p.P519P	XRCC5_ENST00000392132.2_Silent_p.P519P			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	519	Pro-rich.				brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to fatty acid (GO:0071398)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|hematopoietic stem cell differentiation (GO:0060218)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of type I interferon production (GO:0032481)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.P519P(1)		endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TGAATCCTCCCGCTGAGGTGA	0.443								Non-homologous end-joining																															uc002vfy.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)|kidney(1)	2						c.(1555-1557)CCC>CCG	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II							93.0	93.0	93.0					2																	217012886		2203	4300	6503	SO:0001819	synonymous_variant	7520				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding	g.chr2:217012886C>G	AF039597	CCDS2402.1	2q35	2008-07-31	2008-07-31		ENSG00000079246	ENSG00000079246			12833	protein-coding gene	gene with protein product	"""Ku autoantigen, 80kDa"""	194364	"""X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining; Ku autoantigen, 80kD)"""			9636207, 9214634	Standard	NM_021141		Approved	KU80, KARP-1, Ku86, KUB2	uc002vfy.3	P13010	OTTHUMG00000133059	ENST00000392133.3:c.1557C>G	2.37:g.217012886C>G						XRCC5_uc002vfz.2_Silent_p.P405P	p.P519P	NM_021141	NP_066964	P13010	XRCC5_HUMAN		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)	14	1697	+		Renal(323;0.0328)	519			Pro-rich.		A8K3X5|Q0Z7V0|Q4VBQ5|Q53HH7|Q7M4N0|Q9UCQ0|Q9UCQ1	Silent	SNP	ENST00000392133.3	37	c.1557C>G	CCDS2402.1																																																																																				0.443	XRCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256675.3	NM_021141		4	135	0	0	0	0.00024832	0	4	135				
DOCK10	55619	broad.mit.edu	37	2	225659777	225659777	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:225659777G>T	ENST00000258390.7	-	45	5040	c.4973C>A	c.(4972-4974)aCt>aAt	p.T1658N	DOCK10_ENST00000409592.3_Missense_Mutation_p.T1652N	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1658					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T196N(1)|p.T1656N(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TATACGCTTAGTCAGGTCCTT	0.468																																							uc010fwz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(4972-4974)ACT>AAT		dedicator of cytokinesis 10							138.0	138.0	138.0					2																	225659777		1988	4169	6157	SO:0001583	missense	55619						GTP binding	g.chr2:225659777G>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4973C>A	2.37:g.225659777G>T	ENSP00000258390:p.Thr1658Asn					DOCK10_uc002vob.2_Missense_Mutation_p.T1652N|DOCK10_uc002voa.2_Missense_Mutation_p.T314N|DOCK10_uc002voc.2_Missense_Mutation_p.T512N	p.T1658N	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	45	5212	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1658			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.4973C>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433647	0.83776	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.66638	3.52;-0.22	5.8	4.92	0.64577	.	0.046808	0.85682	D	0.000000	T	0.80924	0.4717	M	0.76002	2.32	0.53005	D	0.999969	D;D;D;P	0.89917	0.997;0.999;1.0;0.927	D;D;D;P	0.85130	0.974;0.991;0.997;0.677	T	0.82094	-0.0627	10	0.49607	T	0.09	.	14.7431	0.69469	0.0693:0.0:0.9307:0.0	.	1658;512;1652;320	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	N	1652;1658;196	ENSP00000386694:T1652N;ENSP00000258390:T1658N	ENSP00000258390:T1658N	T	-	2	0	DOCK10	225368021	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.656000	0.83736	1.453000	0.47775	0.650000	0.86243	ACT		0.468	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			65	102	1	0	8.07507e-42	0.000147903	2.1409e-40	65	102				
IRS1	3667	broad.mit.edu	37	2	227663340	227663340	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:227663340C>G	ENST00000305123.5	-	1	1135	c.115G>C	c.(115-117)Ggg>Cgg	p.G39R	RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	39	Mediates interaction with PHIP. {ECO:0000250}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.G39R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCCGGGCCCCCAGCCTCGCTG	0.632																																							uc002voh.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(115-117)GGG>CGG		insulin receptor substrate 1							48.0	58.0	55.0					2																	227663340		2203	4300	6503	SO:0001583	missense	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227663340C>G		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.115G>C	2.37:g.227663340C>G	ENSP00000304895:p.Gly39Arg						p.G39R	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	167	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	39			PH.|Mediates interaction with PHIP (By similarity).			Missense_Mutation	SNP	ENST00000305123.5	37	c.115G>C	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323660	0.60634	.	.	ENSG00000169047	ENST00000305123	T	0.72394	-0.65	5.49	5.49	0.81192	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.137009	0.33534	N	0.004812	T	0.70762	0.3261	L	0.28400	0.85	0.41237	D	0.986612	P	0.51791	0.948	P	0.50570	0.644	T	0.74827	-0.3532	10	0.87932	D	0	-18.007	19.3348	0.94312	0.0:1.0:0.0:0.0	.	39	P35568	IRS1_HUMAN	R	39	ENSP00000304895:G39R	ENSP00000304895:G39R	G	-	1	0	IRS1	227371584	0.994000	0.37717	0.994000	0.49952	0.993000	0.82548	3.819000	0.55686	2.735000	0.93741	0.561000	0.74099	GGG		0.632	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		4	70	0	0	0	0.00024832	0	4	70				
GPR55	9290	broad.mit.edu	37	2	231775219	231775219	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:231775219G>T	ENST00000392040.1	-	2	651	c.459C>A	c.(457-459)agC>agA	p.S153R	GPR55_ENST00000392039.2_Missense_Mutation_p.S153R|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	153					activation of phospholipase C activity (GO:0007202)|bone resorption (GO:0045453)|cannabinoid signaling pathway (GO:0038171)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho protein signal transduction (GO:0035025)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|G-protein coupled receptor activity (GO:0004930)	p.S153R(1)		endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AGATAGGGATGCTTCCGGTCC	0.547																																							uc002vrg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(457-459)AGC>AGA		G protein-coupled receptor 55							87.0	90.0	89.0					2																	231775219		2203	4300	6503	SO:0001583	missense	9290				activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity	g.chr2:231775219G>T	AF096786	CCDS2480.1	2q37	2012-08-21			ENSG00000135898	ENSG00000135898		"""GPCR / Class A : Orphans"""	4511	protein-coding gene	gene with protein product		604107				9931487	Standard	NM_005683		Approved		uc002vrg.3	Q9Y2T6	OTTHUMG00000133224	ENST00000392040.1:c.459C>A	2.37:g.231775219G>T	ENSP00000375894:p.Ser153Arg					GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.S153R	p.S153R	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)	2	652	-		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)	153			Helical; Name=4; (Potential).		Q8N580	Missense_Mutation	SNP	ENST00000392040.1	37	c.459C>A	CCDS2480.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.727100	0.30593	.	.	ENSG00000135898	ENST00000392040;ENST00000392039;ENST00000438398	T;T;T	0.46063	0.88;0.88;0.88	5.65	0.217	0.15264	GPCR, rhodopsin-like superfamily (1);	0.195104	0.53938	D	0.000045	T	0.57917	0.2086	M	0.86097	2.795	0.35303	D	0.783198	D	0.62365	0.991	D	0.64506	0.926	T	0.62067	-0.6932	10	0.66056	D	0.02	-40.9866	5.0475	0.14492	0.4171:0.0:0.4506:0.1323	.	153	Q9Y2T6	GPR55_HUMAN	R	153	ENSP00000375894:S153R;ENSP00000375893:S153R;ENSP00000412768:S153R	ENSP00000375893:S153R	S	-	3	2	GPR55	231483463	0.009000	0.17119	0.990000	0.47175	0.084000	0.17831	0.345000	0.19979	-0.267000	0.09325	-0.136000	0.14681	AGC		0.547	GPR55-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332618.1	NM_005683		32	56	1	0	1.06801e-11	0.000279167	2.48241e-10	32	56				
HJURP	55355	broad.mit.edu	37	2	234750475	234750475	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:234750475C>G	ENST00000411486.2	-	8	1016	c.951G>C	c.(949-951)caG>caC	p.Q317H	HJURP_ENST00000441687.1_Missense_Mutation_p.Q232H|HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000432087.1_Missense_Mutation_p.Q263H	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	317					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.Q317H(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TGGAGCTCCTCTGAGAACGTC	0.463																																							uc002vvg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(949-951)CAG>CAC		Holliday junction recognition protein							63.0	64.0	64.0					2																	234750475		2203	4300	6503	SO:0001583	missense	55355				cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	g.chr2:234750475C>G		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.951G>C	2.37:g.234750475C>G	ENSP00000414109:p.Gln317His					HJURP_uc010znd.1_Missense_Mutation_p.Q256H|HJURP_uc010zne.1_Missense_Mutation_p.Q225H	p.Q317H	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)	8	1017	-		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)	317					A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	c.951G>C	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515655	0.44763	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.55930	0.49;0.49;0.49;0.49	4.36	0.319	0.15873	Holliday junction recognition protein, HJURP (1);	1.048640	0.07533	N	0.912644	T	0.40372	0.1114	L	0.29908	0.895	0.09310	N	1	B;B;B	0.21520	0.046;0.046;0.057	B;B;B	0.21708	0.013;0.013;0.036	T	0.39461	-0.9613	10	0.66056	D	0.02	-0.6639	7.7239	0.28748	0.0:0.4132:0.4923:0.0945	.	232;263;317	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	H	317;263;232;232	ENSP00000414109:Q317H;ENSP00000407208:Q263H;ENSP00000401944:Q232H;ENSP00000393253:Q232H	ENSP00000414109:Q317H	Q	-	3	2	HJURP	234415214	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-1.699000	0.01906	0.041000	0.15688	0.655000	0.94253	CAG		0.463	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		21	19	0	0	0	0.000175454	0	21	19				
IQCA1	79781	broad.mit.edu	37	2	237300647	237300647	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:237300647G>T	ENST00000409907.3	-	11	1659	c.1385C>A	c.(1384-1386)cCa>cAa	p.P462Q	IQCA1_ENST00000465621.1_5'Flank|IQCA1_ENST00000309507.5_Missense_Mutation_p.P458Q|AC019068.2_ENST00000413353.1_RNA|IQCA1_ENST00000431676.2_Missense_Mutation_p.P421Q	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	462	Lys-rich.						ATP binding (GO:0005524)	p.P462Q(1)|p.P469Q(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TGCTTTCACTGGGCGCTCCCT	0.478																																							uc002vvz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1384-1386)CCA>CAA		IQ motif containing with AAA domain 1							185.0	191.0	189.0					2																	237300647		1896	4114	6010	SO:0001583	missense	79781						ATP binding	g.chr2:237300647G>T	AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1385C>A	2.37:g.237300647G>T	ENSP00000387347:p.Pro462Gln					IQCA1_uc002vwb.2_Missense_Mutation_p.P469Q|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.P421Q	p.P462Q	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN			11	1567	-			462			Lys-rich.		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	c.1385C>A	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.435796	0.25813	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.93859	-3.19;-3.21;-3.3	5.45	3.63	0.41609	.	4.024100	0.00447	N	0.000083	D	0.92541	0.7631	M	0.66939	2.045	0.09310	N	1	B;B;B	0.21606	0.009;0.058;0.058	B;B;B	0.24394	0.009;0.053;0.036	T	0.75156	-0.3417	10	0.35671	T	0.21	.	6.8241	0.23872	0.0818:0.0:0.6093:0.3089	.	421;469;462	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	Q	462;469;458;421;458	ENSP00000387347:P462Q;ENSP00000311951:P458Q;ENSP00000407213:P421Q	ENSP00000254653:P462Q	P	-	2	0	IQCA1	236965386	0.042000	0.20092	0.003000	0.11579	0.003000	0.03518	1.903000	0.39858	0.649000	0.30751	0.655000	0.94253	CCA		0.478	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		11	266	1	0	9.31168e-06	0.000151284	0.000203057	11	266				
C20orf194	25943	broad.mit.edu	37	20	3303303	3303304	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:3303303_3303304CC>AA	ENST00000252032.9	-	15	1372_1373	c.1305_1306GG>TT	c.(1303-1308)caGGga>caTTga	p.435_436QG>H*	C20orf194_ENST00000453730.2_Nonsense_Mutation_p.173_174QG>H*	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	435								p.Q435_G436>H*(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ACGCACCTTCCCTGATTATTCA	0.431																																							uc002wii.2		NA																	1	Complex - compound substitution(1)		lung(1)		0						c.(1303-1308)CAGGGA>CATTGA		hypothetical protein LOC25943																																				SO:0001587	stop_gained	25943							g.chr20:3303303_3303304CC>AA	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1305_1306delinsAA	20.37:g.3303303_3303304delinsAA	ENSP00000252032:p.Q435_G436delinsH*					C20orf194_uc002wij.3_Nonsense_Mutation_p.174_175QG>H*|C20orf194_uc002wik.2_Nonsense_Mutation_p.109_110QG>H*|C20orf194_uc010gay.1_RNA	p.435_436QG>H*	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN			15	1356_1357	-			435_436					Q66K86|Q6P2R9|Q9UFX9	Nonsense_Mutation	DNP	ENST00000252032.9	37	c.1305_1306GG>TT	CCDS42851.1																																																																																				0.431	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		13	394	0	0	0	6.4e-05	0	13	394				
OTOR	56914	broad.mit.edu	37	20	16729075	16729076	+	Missense_Mutation	DNP	CG	CG	AT	rs373345936		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:16729075_16729076CG>AT	ENST00000246081.2	+	1	73_74	c.29_30CG>AT	c.(28-30)cCG>cAT	p.P10H		NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	10					cartilage condensation (GO:0001502)|sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)		p.P10P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						CTTTTCCTCCCGGGTCTTGTGG	0.431																																							uc002wpj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(28-30)CCG>CAT		otoraplin precursor																																				SO:0001583	missense	56914				sensory perception of sound	extracellular region		g.chr20:16729075_16729076CG>AT	AF233261	CCDS13124.1	20p12.1-p11.23	2005-11-14			ENSG00000125879	ENSG00000125879			8517	protein-coding gene	gene with protein product		606067				10873378	Standard	NM_020157		Approved	MIAL, MIAL1, FDP	uc002wpj.3	Q9NRC9	OTTHUMG00000031931	Exception_encountered	20.37:g.16729075_16729076delinsAT	ENSP00000246081:p.Pro10His					OTOR_uc002wpk.2_5'Flank	p.P10H	NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN			1	73_74	+			10					D3DW22|Q3MIU6	Missense_Mutation	DNP	ENST00000246081.2	37	c.29_30CG>AT	CCDS13124.1																																																																																				0.431	OTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078108.2			11	383	0	0	0	6.4e-05	0	11	383				
PCSK2	5126	broad.mit.edu	37	20	17437055	17437055	+	Silent	SNP	C	C	G	rs574761340		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:17437055C>G	ENST00000262545.2	+	10	1479	c.1164C>G	c.(1162-1164)ccC>ccG	p.P388P	PCSK2_ENST00000536609.1_Silent_p.P353P|PCSK2_ENST00000377899.1_Silent_p.P369P	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	388	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.P388P(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAGCTGCCCCCGAGGCAGCTG	0.532													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18261	0.0		0.0	False		,,,				2504	0.0						uc002wpm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(1162-1164)CCC>CCG		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						141.0	144.0	143.0					20																	17437055		2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17437055C>G	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1164C>G	20.37:g.17437055C>G						PCSK2_uc002wpl.2_Silent_p.P369P|PCSK2_uc010zrm.1_Silent_p.P353P	p.P388P	NM_002594	NP_002585	P16519	NEC2_HUMAN			10	1484	+			388			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.1164C>G	CCDS13125.1																																																																																				0.532	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		5	185	0	0	0	3.59834e-05	0	5	185				
SSTR4	6754	broad.mit.edu	37	20	23016973	23016973	+	Missense_Mutation	SNP	G	G	A	rs368872232		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:23016973G>A	ENST00000255008.3	+	1	917	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	285					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.V285M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAACCTCTTCGTGACCAGCCT	0.552																																					Esophageal Squamous(15;850 1104 16640)	Esophageal Squamous(15;850 1104 16640)	uc002wsr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(853-855)GTG>ATG		somatostatin receptor 4							195.0	203.0	200.0					20																	23016973		2203	4300	6503	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016973G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.853G>A	20.37:g.23016973G>A	ENSP00000255008:p.Val285Met						p.V285M	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	917	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		285			Extracellular (Potential).		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.853G>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	2.403	-0.337113	0.05278	.	.	ENSG00000132671	ENST00000255008	T	0.72167	-0.63	3.36	-0.825	0.10809	GPCR, rhodopsin-like superfamily (1);	0.372260	0.21521	U	0.073207	T	0.48786	0.1519	N	0.25789	0.76	0.18873	N	0.999988	B	0.27498	0.18	B	0.26202	0.067	T	0.27938	-1.0059	10	0.34782	T	0.22	.	4.4573	0.11649	0.4609:0.2801:0.259:0.0	.	285	P31391	SSR4_HUMAN	M	285	ENSP00000255008:V285M	ENSP00000255008:V285M	V	+	1	0	SSTR4	22964973	0.893000	0.30496	0.193000	0.23327	0.330000	0.28571	-0.061000	0.11693	-0.109000	0.12044	-0.119000	0.15052	GTG		0.552	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			51	87	0	0	0	0.000147903	0	51	87				
CST9L	128821	broad.mit.edu	37	20	23549030	23549030	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:23549030C>A	ENST00000376979.3	-	1	356	c.58G>T	c.(58-60)Ggc>Tgc	p.G20C		NM_080610.2	NP_542177.1	Q9H4G1	CST9L_HUMAN	cystatin 9-like	20						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.G20C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ATCTGGGAGCCTAAGAGAAGC	0.582																																							uc002wtk.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(58-60)GGC>TGC		cystatin 9-like precursor							100.0	90.0	93.0					20																	23549030		2203	4300	6503	SO:0001583	missense	128821					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23549030C>A		CCDS13157.1	20p11.21	2012-08-14	2008-03-06		ENSG00000101435	ENSG00000101435			16233	protein-coding gene	gene with protein product			"""cystatin 9 (mouse)-like"""			20565543	Standard	NM_080610		Approved	bA218C14.1, CTES7B	uc002wtk.4	Q9H4G1	OTTHUMG00000032073	ENST00000376979.3:c.58G>T	20.37:g.23549030C>A	ENSP00000366178:p.Gly20Cys						p.G20C	NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN			1	357	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		20					B2R5A1	Missense_Mutation	SNP	ENST00000376979.3	37	c.58G>T	CCDS13157.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577992	0.28180	.	.	ENSG00000101435	ENST00000376979	T	0.15139	2.45	2.03	-0.17	0.13335	.	0.226336	0.22795	N	0.055547	T	0.04182	0.0116	N	0.08118	0	0.09310	N	1	P	0.49783	0.928	B	0.27076	0.076	T	0.42716	-0.9435	10	0.51188	T	0.08	.	2.2949	0.04147	0.3:0.5095:0.0:0.1904	.	20	Q9H4G1	CST9L_HUMAN	C	20	ENSP00000366178:G20C	ENSP00000366178:G20C	G	-	1	0	CST9L	23497030	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.045000	0.12003	-0.031000	0.13781	0.313000	0.20887	GGC		0.582	CST9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078338.1	NM_080610		10	18	1	0	3.86212e-05	3.86212e-05	0.000822643	10	18				
NINL	22981	broad.mit.edu	37	20	25456719	25456719	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:25456719G>C	ENST00000278886.6	-	17	3281	c.3208C>G	c.(3208-3210)Cgg>Ggg	p.R1070G	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1070					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.R1070G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TCCAGAGCCCGGACGACGTCT	0.463																																							uc002wux.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(3208-3210)CGG>GGG		ninein-like							116.0	100.0	106.0					20																	25456719		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25456719G>C		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3208C>G	20.37:g.25456719G>C	ENSP00000278886:p.Arg1070Gly					NINL_uc010gdn.1_Intron	p.R1070G	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN			17	3282	-			1070			Potential.		A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.3208C>G	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	G	1.505	-0.551064	0.03996	.	.	ENSG00000101004	ENST00000278886	T	0.06068	3.35	4.85	0.0649	0.14354	.	1.331900	0.04751	N	0.424594	T	0.06371	0.0164	L	0.38175	1.15	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42207	-0.9465	10	0.46703	T	0.11	0.1959	5.151	0.15009	0.2992:0.1477:0.5531:0.0	.	1070	Q9Y2I6	NINL_HUMAN	G	1070	ENSP00000278886:R1070G	ENSP00000278886:R1070G	R	-	1	2	NINL	25404719	0.001000	0.12720	0.001000	0.08648	0.056000	0.15407	0.175000	0.16762	-0.285000	0.09089	0.561000	0.74099	CGG		0.463	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		4	122	0	0	0	3.59834e-05	0	4	122				
ASXL1	171023	broad.mit.edu	37	20	31021635	31021635	+	Missense_Mutation	SNP	G	G	C	rs149449801		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:31021635G>C	ENST00000375687.4	+	12	2058	c.1634G>C	c.(1633-1635)cGt>cCt	p.R545P	ASXL1_ENST00000306058.5_Missense_Mutation_p.R540P	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	545	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R545P(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTGAAGATCGTCAGTCCTTT	0.522			"""F, N, Mis"""		"""MDS, CMML"""																																		uc002wxs.2		NA		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(1633-1635)CGT>CCT		additional sex combs like 1 isoform 1							85.0	94.0	91.0					20																	31021635		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31021635G>C	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1634G>C	20.37:g.31021635G>C	ENSP00000364839:p.Arg545Pro					ASXL1_uc010geb.2_Missense_Mutation_p.R436P	p.R545P	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			11	2060	+			545					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.1634G>C	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810871	0.70797	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.41758	0.99;0.99	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.57725	0.2073	M	0.72894	2.215	0.58432	D	0.999998	D;P	0.58620	0.983;0.547	P;B	0.53861	0.736;0.194	T	0.57619	-0.7780	10	0.42905	T	0.14	-5.9173	18.905	0.92456	0.0:0.0:1.0:0.0	.	540;545	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	P	545;545;545;484;540	ENSP00000364839:R545P;ENSP00000305119:R540P	ENSP00000305119:R540P	R	+	2	0	ASXL1	30485296	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.990000	0.76225	2.780000	0.95670	0.655000	0.94253	CGT		0.522	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		45	68	0	0	0	0.000147903	0	45	68				
NCOA6	23054	broad.mit.edu	37	20	33330374	33330374	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:33330374G>C	ENST00000374796.2	-	12	6256	c.3686C>G	c.(3685-3687)cCt>cGt	p.P1229R	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1229R			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1229	NCOA1-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.P1229R(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGTGCTGGGAGGGCGGTTGTT	0.512																																							uc002xav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(3685-3687)CCT>CGT		nuclear receptor coactivator 6							172.0	179.0	177.0					20																	33330374		2203	4300	6503	SO:0001583	missense	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33330374G>C	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.3686C>G	20.37:g.33330374G>C	ENSP00000363929:p.Pro1229Arg					NCOA6_uc002xaw.2_Missense_Mutation_p.P1229R	p.P1229R	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			12	6257	-			1229			NCOA1-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	c.3686C>G	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909892	0.72983	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.30182	1.54;1.54	6.08	6.08	0.98989	.	0.075314	0.56097	D	0.000028	T	0.45296	0.1335	L	0.32530	0.975	0.80722	D	1	D	0.63880	0.993	P	0.60682	0.878	T	0.14896	-1.0456	10	0.51188	T	0.08	-7.8126	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1229	Q14686	NCOA6_HUMAN	R	1229	ENSP00000363929:P1229R;ENSP00000351894:P1229R	ENSP00000351894:P1229R	P	-	2	0	NCOA6	32794035	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.894000	0.99253	0.591000	0.81541	CCT		0.512	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		126	226	0	0	0	0.000147903	0	126	226				
TTI1	9675	broad.mit.edu	37	20	36641045	36641045	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:36641045G>T	ENST00000373448.2	-	3	1412	c.1174C>A	c.(1174-1176)Caa>Aaa	p.Q392K	TTI1_ENST00000449821.1_Missense_Mutation_p.Q392K|TTI1_ENST00000373447.3_Missense_Mutation_p.Q392K|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	392					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.Q392K(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGGTCATCTTGGGAGTTCATT	0.463																																							uc002xhl.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1174-1176)CAA>AAA		hypothetical protein LOC9675							111.0	114.0	113.0					20																	36641045		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36641045G>T	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1174C>A	20.37:g.36641045G>T	ENSP00000362547:p.Gln392Lys					KIAA0406_uc002xhm.2_Missense_Mutation_p.Q392K	p.Q392K	NM_014657	NP_055472	O43156	TTI1_HUMAN			3	1383	-		Myeloproliferative disorder(115;0.00874)	392					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.1174C>A	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485761	0.44147	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.13657	2.57;2.57;2.57	5.5	3.5	0.40072	Armadillo-type fold (1);	0.384954	0.30473	N	0.009555	T	0.19927	0.0479	M	0.70595	2.14	0.40158	D	0.977039	P	0.51933	0.949	P	0.48189	0.57	T	0.15521	-1.0434	10	0.05959	T	0.93	-15.8184	15.1748	0.72901	0.0:0.2673:0.7327:0.0	.	392	O43156	TTI1_HUMAN	K	392	ENSP00000362547:Q392K;ENSP00000362546:Q392K;ENSP00000407270:Q392K	ENSP00000362546:Q392K	Q	-	1	0	TTI1	36074459	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	3.132000	0.50523	0.827000	0.34685	-0.165000	0.13383	CAA		0.463	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		10	148	1	0	1.58986e-06	3.86212e-05	3.50024e-05	10	148				
KIAA1755	85449	broad.mit.edu	37	20	36851966	36851966	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:36851966T>A	ENST00000279024.4	-	9	2513	c.2242A>T	c.(2242-2244)Aag>Tag	p.K748*		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	748								p.K748*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGGTCGGCCTTCTCGAATTCC	0.607																																							uc002xhy.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(2242-2244)AAG>TAG		hypothetical protein LOC85449							50.0	48.0	49.0					20																	36851966		2203	4300	6503	SO:0001587	stop_gained	85449							g.chr20:36851966T>A	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2242A>T	20.37:g.36851966T>A	ENSP00000279024:p.Lys748*					KIAA1755_uc002xhx.1_5'Flank	p.K748*	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			9	2514	-		Myeloproliferative disorder(115;0.00874)	748					Q9C0A8	Nonsense_Mutation	SNP	ENST00000279024.4	37	c.2242A>T	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.740623	0.49045	.	.	ENSG00000149633	ENST00000279024;ENST00000373398;ENST00000435901	.	.	.	4.46	4.46	0.54185	.	0.130493	0.34906	N	0.003596	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.5736	0.22553	0.0:0.1062:0.0:0.8938	.	.	.	.	X	748;256;47	.	ENSP00000279024:K748X	K	-	1	0	KIAA1755	36285380	1.000000	0.71417	0.996000	0.52242	0.033000	0.12548	1.535000	0.36061	1.872000	0.54250	0.418000	0.28097	AAG		0.607	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		11	17	0	0	0	6.40141e-05	0	11	17				
TNNC2	7125	broad.mit.edu	37	20	44453140	44453140	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:44453140C>T	ENST00000372555.3	-	3	285	c.193G>A	c.(193-195)Gag>Aag	p.E65K	TNNC2_ENST00000372557.1_Missense_Mutation_p.E50K	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	65	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)	p.E65K(1)		endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	TCACCGTCCTCATCCACCTCC	0.672																																							uc002xpr.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(193-195)GAG>AAG		fast skeletal muscle troponin C							123.0	99.0	107.0					20																	44453140		2203	4300	6503	SO:0001583	missense	7125				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding	g.chr20:44453140C>T		CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"""EF-hand domain containing"""	11944	protein-coding gene	gene with protein product		191039	"""troponin C2, fast"""			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.193G>A	20.37:g.44453140C>T	ENSP00000361636:p.Glu65Lys						p.E65K	NM_003279	NP_003270	P02585	TNNC2_HUMAN			3	259	-		Myeloproliferative disorder(115;0.0122)	65			EF-hand 2.|2.		Q6FH92	Missense_Mutation	SNP	ENST00000372555.3	37	c.193G>A	CCDS13375.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081019	0.76528	.	.	ENSG00000101470	ENST00000372557;ENST00000372555	T;T	0.78595	-1.19;-1.19	4.49	4.49	0.54785	EF-hand-like domain (1);	0.104827	0.64402	D	0.000005	T	0.70649	0.3248	N	0.03903	-0.33	0.80722	D	1	D	0.52996	0.957	P	0.56398	0.797	T	0.79610	-0.1732	10	0.72032	D	0.01	-19.8271	15.9331	0.79679	0.0:1.0:0.0:0.0	.	65	P02585	TNNC2_HUMAN	K	50;65	ENSP00000361638:E50K;ENSP00000361636:E65K	ENSP00000361636:E65K	E	-	1	0	TNNC2	43886547	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	7.651000	0.83577	2.334000	0.79466	0.557000	0.71058	GAG		0.672	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079524.3	NM_003279		22	38	0	0	0	0.000375601	0	22	38				
NCOA3	8202	broad.mit.edu	37	20	46265153	46265153	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:46265153G>T	ENST00000371998.3	+	12	2214	c.2023G>T	c.(2023-2025)Ggg>Tgg	p.G675W	NCOA3_ENST00000341724.6_Missense_Mutation_p.G685W|NCOA3_ENST00000372004.3_Missense_Mutation_p.G675W|NCOA3_ENST00000371997.3_Missense_Mutation_p.G685W			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	675					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|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)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.G675W(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAATATGCATGGGTCACTGTT	0.473																																							uc002xtk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(2023-2025)GGG>TGG		nuclear receptor coactivator 3 isoform a							82.0	80.0	81.0					20																	46265153		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46265153G>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.2023G>T	20.37:g.46265153G>T	ENSP00000361066:p.Gly675Trp					NCOA3_uc010ght.1_Missense_Mutation_p.G685W|NCOA3_uc002xtl.2_Missense_Mutation_p.G675W|NCOA3_uc002xtm.2_Missense_Mutation_p.G675W|NCOA3_uc002xtn.2_Missense_Mutation_p.G675W|NCOA3_uc010zyc.1_Missense_Mutation_p.G470W	p.G675W	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			12	2228	+			675					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.2023G>T	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503983	0.64410	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.03004	4.1;4.28;4.28;4.08	5.73	5.73	0.89815	Steroid receptor coactivator (1);	0.000000	0.85682	D	0.000000	T	0.19327	0.0464	M	0.71581	2.175	0.51482	D	0.999924	D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.83275	0.995;0.996;0.995;0.995;0.992;0.995	T	0.00007	-1.2494	10	0.87932	D	0	-14.5057	19.2577	0.93952	0.0:0.0:1.0:0.0	.	675;685;679;675;675;675	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	W	675;685;675;675;685	ENSP00000342123:G685W;ENSP00000361073:G675W;ENSP00000361066:G675W;ENSP00000361065:G685W	ENSP00000345671:G675W	G	+	1	0	NCOA3	45698560	0.926000	0.31397	0.983000	0.44433	0.944000	0.59088	1.941000	0.40233	2.854000	0.98071	0.655000	0.94253	GGG		0.473	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		9	120	1	0	0.000442599	0.000442599	0.00887779	9	120				
B4GALT5	9334	broad.mit.edu	37	20	48252857	48252857	+	Nonsense_Mutation	SNP	C	C	A	rs200432175		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:48252857C>A	ENST00000371711.4	-	9	1346	c.1159G>T	c.(1159-1161)Gag>Tag	p.E387*		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	387					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.E387*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TCTCAGTACTCGTTCACCTGA	0.483																																							uc002xuu.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1159-1161)GAG>TAG		UDP-Gal:betaGlcNAc beta 1,4-							215.0	183.0	194.0					20																	48252857		2203	4300	6503	SO:0001587	stop_gained	9334				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding	g.chr20:48252857C>A	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.1159G>T	20.37:g.48252857C>A	ENSP00000360776:p.Glu387*						p.E387*	NM_004776	NP_004767	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		9	1353	-			387			Lumenal (Potential).		E1P625|Q2M394|Q9UJQ8	Nonsense_Mutation	SNP	ENST00000371711.4	37	c.1159G>T	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	C	38	7.053683	0.98032	.	.	ENSG00000158470	ENST00000371711	.	.	.	5.51	5.51	0.81932	.	0.090275	0.85682	D	0.000000	.	.	.	.	.	.	0.32784	N	0.502146	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-23.2226	19.4363	0.94796	0.0:1.0:0.0:0.0	.	.	.	.	X	387	.	ENSP00000360776:E387X	E	-	1	0	B4GALT5	47686264	1.000000	0.71417	0.954000	0.39281	0.927000	0.56198	4.728000	0.62000	2.582000	0.87167	0.557000	0.71058	GAG		0.483	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		53	96	1	0	3.40165e-17	0.000147903	8.25516e-16	53	96				
TSHZ2	128553	broad.mit.edu	37	20	51872086	51872086	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:51872086G>A	ENST00000371497.5	+	2	2976	c.2089G>A	c.(2089-2091)Gcc>Acc	p.A697T	TSHZ2_ENST00000603338.2_Missense_Mutation_p.A694T|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A694T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	697					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)	p.A697T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCCACTCAGCGCCCTGCAGTC	0.612																																							uc002xwo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(2089-2091)GCC>ACC		teashirt zinc finger homeobox 2							52.0	48.0	50.0					20																	51872086		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872086G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2089G>A	20.37:g.51872086G>A	ENSP00000360552:p.Ala697Thr						p.A697T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3045	+			697					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.2089G>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006340	0.93287	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.70986	-0.53;-0.53	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.85877	0.5799	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.86906	0.2057	10	0.87932	D	0	-15.9359	19.8608	0.96783	0.0:0.0:1.0:0.0	.	697	Q9NRE2	TSH2_HUMAN	T	697;694;223	ENSP00000360552:A697T;ENSP00000333114:A694T	ENSP00000333114:A694T	A	+	1	0	TSHZ2	51305493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.470000	0.97683	2.695000	0.91970	0.643000	0.83706	GCC		0.612	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		23	23	0	0	0	0.000375601	0	23	23				
FAM209A	200232	broad.mit.edu	37	20	55100931	55100931	+	Silent	SNP	C	C	A	rs1054347		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:55100931C>A	ENST00000371328.3	+	2	644	c.321C>A	c.(319-321)ccC>ccA	p.P107P	FAM209A_ENST00000481560.1_3'UTR|GCNT7_ENST00000243913.4_5'UTR	NM_001012971.3	NP_001012989.2	Q5JX71	F209A_HUMAN	family with sequence similarity 209, member A	107						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.P107P(1)									ATGCTTCCCCCAACAAAGACT	0.453																																							uc002xxx.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(319-321)CCC>CCA		hypothetical protein LOC200232 precursor							108.0	106.0	107.0					20																	55100931		2203	4300	6503	SO:0001819	synonymous_variant	200232					integral to membrane		g.chr20:55100931C>A	AL109806	CCDS33493.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000124103	ENSG00000124103			16100	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 106"""	C20orf106			Standard	NM_001012971		Approved	dJ1153D9.3		Q5JX71	OTTHUMG00000032799	ENST00000371328.3:c.321C>A	20.37:g.55100931C>A						GCNT7_uc010zzg.1_5'UTR|C20orf107_uc010zzh.1_Intron	p.P107P	NM_001012971	NP_001012989	Q5JX71	CT106_HUMAN	Colorectal(105;0.202)		2	401	+			107			Cytoplasmic (Potential).		Q05C43	Silent	SNP	ENST00000371328.3	37	c.321C>A	CCDS33493.1																																																																																				0.453	FAM209A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079815.2			8	126	1	0	0.000157383	0.000157383	0.00327129	8	126				
ZNF831	128611	broad.mit.edu	37	20	57766592	57766592	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:57766592C>G	ENST00000371030.2	+	1	518	c.518C>G	c.(517-519)cCg>cGg	p.P173R		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	173							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.P173R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGCCCTTCCCGTGTGCCACC	0.607																																							uc002yan.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(517-519)CCG>CGG		zinc finger protein 831							72.0	80.0	77.0					20																	57766592		2106	4224	6330	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766592C>G	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.518C>G	20.37:g.57766592C>G	ENSP00000360069:p.Pro173Arg						p.P173R	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	518	+	all_lung(29;0.0085)		173			C2H2-type 2.		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.518C>G	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102665	0.56183	.	.	ENSG00000124203	ENST00000371030	T	0.18502	2.21	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24851	0.0603	N	0.05574	-0.02	0.80722	D	1	D	0.57257	0.979	D	0.72075	0.976	T	0.34129	-0.9841	9	0.72032	D	0.01	-12.1798	18.1834	0.89786	0.0:1.0:0.0:0.0	.	173	Q5JPB2	ZN831_HUMAN	R	173	ENSP00000360069:P173R	ENSP00000360069:P173R	P	+	2	0	ZNF831	57199987	1.000000	0.71417	0.894000	0.35097	0.148000	0.21650	7.755000	0.85180	2.538000	0.85594	0.561000	0.74099	CCG		0.607	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		4	112	0	0	0	3.59834e-05	0	4	112				
PPP1R3D	5509	broad.mit.edu	37	20	58514122	58514122	+	Missense_Mutation	SNP	C	C	G	rs567015173		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr20:58514122C>G	ENST00000370996.3	-	1	1230	c.865G>C	c.(865-867)Ggg>Cgg	p.G289R	FAM217B_ENST00000360816.3_5'Flank|FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	289					dephosphorylation (GO:0016311)|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 serine/threonine phosphatase activity (GO:0004722)	p.G289R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			TCGCACTCCCCGCGAGGCATG	0.642																																							uc002ybb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(865-867)GGG>CGG		protein phosphatase 1, regulatory subunit 3D							42.0	43.0	43.0					20																	58514122		2203	4300	6503	SO:0001583	missense	5509				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	g.chr20:58514122C>G	Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9294	protein-coding gene	gene with protein product		603326	"""protein phosphatase 1, regulatory (inhibitor) subunit 3D"""	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.865G>C	20.37:g.58514122C>G	ENSP00000360035:p.Gly289Arg					C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	p.G289R	NM_006242	NP_006233	O95685	PPR3D_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.12e-09)		1	1231	-	all_lung(29;0.00391)		289					Q6DK02	Missense_Mutation	SNP	ENST00000370996.3	37	c.865G>C	CCDS13483.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534025	0.45073	.	.	ENSG00000132825	ENST00000370996	T	0.54071	0.59	4.5	3.55	0.40652	.	0.086755	0.42548	D	0.000699	T	0.25419	0.0618	N	0.08118	0	0.37676	D	0.923325	B	0.23316	0.083	B	0.17433	0.018	T	0.16482	-1.0401	10	0.30078	T	0.28	-29.4957	3.9632	0.09420	0.0:0.6674:0.0:0.3326	.	289	O95685	PPR3D_HUMAN	R	289	ENSP00000360035:G289R	ENSP00000360035:G289R	G	-	1	0	PPP1R3D	57947517	0.998000	0.40836	0.857000	0.33713	0.186000	0.23388	3.811000	0.55620	2.451000	0.82905	0.561000	0.74099	GGG		0.642	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	NM_006242		3	37	0	0	0	0.00024832	0	3	37				
ERG	2078	broad.mit.edu	37	21	39755518	39755518	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr21:39755518G>C	ENST00000417133.2	-	12	1453	c.1268C>G	c.(1267-1269)cCg>cGg	p.P423R	ERG_ENST00000398897.1_Missense_Mutation_p.P300R|ERG_ENST00000398905.1_Missense_Mutation_p.P392R|ERG_ENST00000398907.1_Missense_Mutation_p.P393R|ERG_ENST00000398919.2_Missense_Mutation_p.P423R|ERG_ENST00000398910.1_Missense_Mutation_p.P400R|ERG_ENST00000442448.1_Missense_Mutation_p.P399R|ERG_ENST00000288319.7_Missense_Mutation_p.P416R|ERG_ENST00000398911.1_Missense_Mutation_p.P399R|ERG_ENST00000453032.2_Missense_Mutation_p.P324R	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.P423R(1)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GCCCATGTACGGGAGGTCTGA	0.612			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	Esophageal Squamous(130;336 1700 3010 3083 40589)	uc010gnw.2		NA		Dom	yes		21	21q22.3	2078		v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""				TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	1	Substitution - Missense(1)		lung(1)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828						c.(1267-1269)CCG>CGG		ets-related isoform 4							70.0	69.0	69.0					21																	39755518		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39755518G>C		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1268C>G	21.37:g.39755518G>C	ENSP00000414150:p.Pro423Arg					ERG_uc002yxa.2_Missense_Mutation_p.P416R|ERG_uc011aek.1_Missense_Mutation_p.P324R|ERG_uc010gnv.2_Missense_Mutation_p.P300R|ERG_uc010gnx.2_Missense_Mutation_p.P399R|ERG_uc011ael.1_Missense_Mutation_p.P423R|ERG_uc002yxb.2_Missense_Mutation_p.P399R	p.P423R	NM_001136155	NP_001129627	P11308	ERG_HUMAN			12	1563	-		Prostate(19;3.6e-06)	423					A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.1268C>G	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238622	0.58886	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	5.2	5.2	0.72013	.	0.055506	0.85682	D	0.000000	T	0.49660	0.1570	L	0.40543	1.245	0.80722	D	1	B;B;B;P	0.38788	0.073;0.038;0.22;0.647	B;B;B;B	0.39562	0.035;0.055;0.118;0.303	T	0.52734	-0.8536	10	0.51188	T	0.08	.	18.7596	0.91845	0.0:0.0:1.0:0.0	.	423;392;399;416	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	R	392;393;416;300;399;423;400;399;324;423	ENSP00000381877:P392R;ENSP00000381879:P393R;ENSP00000288319:P416R;ENSP00000381871:P300R;ENSP00000381882:P399R;ENSP00000414150:P423R;ENSP00000381881:P400R;ENSP00000394694:P399R;ENSP00000396268:P324R;ENSP00000381891:P423R	ENSP00000288319:P416R	P	-	2	0	ERG	38677388	1.000000	0.71417	0.952000	0.39060	0.989000	0.77384	9.869000	0.99810	2.404000	0.81709	0.655000	0.94253	CCG		0.612	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918		3	41	0	0	0	6.4e-05	0	3	41				
PRDM15	63977	broad.mit.edu	37	21	43222983	43222983	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr21:43222983C>G	ENST00000269844.3	-	30	4040	c.3930G>C	c.(3928-3930)gcG>gcC	p.A1310A	PRDM15_ENST00000422911.1_Silent_p.A1001A|PRDM15_ENST00000398548.1_Silent_p.A981A|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_Silent_p.A944A|PRDM15_ENST00000538201.1_Silent_p.A964A	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.A1310A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCGGAGCACCCGCCTCCTCTT	0.577																																							uc002yzq.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(3928-3930)GCG>GCC		PR domain containing 15 isoform 1							169.0	184.0	179.0					21																	43222983		2203	4300	6503	SO:0001819	synonymous_variant	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43222983C>G	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3930G>C	21.37:g.43222983C>G						PRDM15_uc002yzo.2_Silent_p.A981A|PRDM15_uc002yzp.2_Silent_p.A1001A|PRDM15_uc002yzr.1_Silent_p.A1001A	p.A1310A	NM_022115	NP_071398	P57071	PRD15_HUMAN			30	4041	-			1310					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	c.3930G>C	CCDS13676.1																																																																																				0.577	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		4	157	0	0	0	8.12818e-05	0	4	157				
MED15	51586	broad.mit.edu	37	22	20921087	20921087	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr22:20921087C>A	ENST00000263205.7	+	7	1093	c.1024C>A	c.(1024-1026)Caa>Aaa	p.Q342K	MED15_ENST00000292733.7_Missense_Mutation_p.Q342K|MED15_ENST00000541476.1_Missense_Mutation_p.Q316K|MED15_ENST00000406969.1_Missense_Mutation_p.Q316K|MED15_ENST00000542773.1_Missense_Mutation_p.Q147K|MED15_ENST00000425759.2_Missense_Mutation_p.Q231K|MED15_ENST00000382974.2_Missense_Mutation_p.Q271K|MED15_ENST00000478831.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	342	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q342K(2)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GTTGTATACCCAACCACCACT	0.537																																							uc002zsp.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1024-1026)CAA>AAA		mediator complex subunit 15 isoform a							145.0	141.0	142.0					22																	20921087		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20921087C>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1024C>A	22.37:g.20921087C>A	ENSP00000263205:p.Gln342Lys					MED15_uc002zso.2_Missense_Mutation_p.Q271K|MED15_uc002zsq.2_Missense_Mutation_p.Q342K|MED15_uc010gso.2_Missense_Mutation_p.Q342K|MED15_uc002zsr.2_Missense_Mutation_p.Q316K|MED15_uc011ahs.1_Missense_Mutation_p.Q316K|MED15_uc002zss.2_Missense_Mutation_p.Q261K|MED15_uc011ahu.1_Missense_Mutation_p.Q68K	p.Q342K	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		7	1104	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	342			Pro-rich.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.1024C>A	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.197423	0.38806	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000542773;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	T;T	0.40756	1.02;1.02	5.13	4.03	0.46877	Mediator complex, subunit Med15, metazoa (1);	0.747880	0.12892	N	0.430480	T	0.36771	0.0979	L	0.61218	1.895	0.36801	D	0.885383	B;B;B;B;B;B	0.17038	0.001;0.002;0.002;0.002;0.002;0.02	B;B;B;B;B;B	0.19666	0.002;0.003;0.002;0.002;0.003;0.026	T	0.35475	-0.9787	10	0.25751	T	0.34	.	5.8765	0.18832	0.1909:0.7144:0.0:0.0947	.	288;361;316;342;342;271	B4DGD6;Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5;Q96RN5-3	.;.;.;.;MED15_HUMAN;.	K	231;342;147;342;316;271;316;288	ENSP00000292733:Q342K;ENSP00000263205:Q342K	ENSP00000263205:Q342K	Q	+	1	0	MED15	19251087	0.450000	0.25697	0.461000	0.27105	0.552000	0.35366	3.003000	0.49505	2.775000	0.95449	0.655000	0.94253	CAA		0.537	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		6	52	1	0	8.12818e-05	8.12818e-05	0.00171015	6	52				
MYO18B	84700	broad.mit.edu	37	22	26164827	26164827	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr22:26164827G>T	ENST00000407587.2	+	4	1113	c.944G>T	c.(943-945)gGg>gTg	p.G315V	MYO18B_ENST00000335473.7_Missense_Mutation_p.G315V|MYO18B_ENST00000536101.1_Missense_Mutation_p.G315V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	315						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.G315V(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAAATCCCTGGGAGAAAGTGG	0.532																																							uc003abz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(943-945)GGG>GTG		myosin XVIIIB							28.0	29.0	29.0					22																	26164827		1945	4145	6090	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26164827G>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.944G>T	22.37:g.26164827G>T	ENSP00000386096:p.Gly315Val					MYO18B_uc003aca.1_Missense_Mutation_p.G196V|MYO18B_uc010guy.1_Missense_Mutation_p.G196V|MYO18B_uc010guz.1_Missense_Mutation_p.G196V|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	p.G315V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			4	1194	+			315					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.944G>T		.	.	.	.	.	.	.	.	.	.	g	0.056	-1.237162	0.01493	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.85258	-1.95;-1.95;-1.96	4.81	-9.63	0.00544	.	2.084330	0.02766	N	0.119130	T	0.58623	0.2135	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.53535	-0.8425	10	0.17832	T	0.49	.	2.2225	0.03976	0.2006:0.1114:0.4201:0.2679	.	315;315;315	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	V	315	ENSP00000441229:G315V;ENSP00000334563:G315V;ENSP00000386096:G315V	ENSP00000334563:G315V	G	+	2	0	MYO18B	24494827	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.576000	0.02129	-1.335000	0.02241	-2.273000	0.00274	GGG		0.532	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	4	1	0	1.23904e-05	1.23904e-05	0.000268915	4	4				
SLC5A4	6527	broad.mit.edu	37	22	32650194	32650194	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr22:32650194G>T	ENST00000266086.4	-	2	153	c.142C>A	c.(142-144)Ctg>Atg	p.L48M	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	48					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.L48M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTGGTCTTCAGCATCGCCTGA	0.567																																							uc003ami.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(142-144)CTG>ATG		solute carrier family 5 (low affinity glucose							86.0	74.0	78.0					22																	32650194		2203	4300	6503	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32650194G>T	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.142C>A	22.37:g.32650194G>T	ENSP00000266086:p.Leu48Met						p.L48M	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			2	144	-			48			Extracellular (Potential).		O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.142C>A	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	G	7.512	0.654970	0.14580	.	.	ENSG00000100191	ENST00000266086	D	0.86030	-2.06	5.4	4.37	0.52481	.	0.327472	0.27917	N	0.017322	D	0.82697	0.5093	M	0.63428	1.95	0.29774	N	0.834547	B	0.19935	0.04	B	0.23275	0.045	T	0.77040	-0.2735	10	0.38643	T	0.18	.	12.7048	0.57054	0.0:0.3161:0.6839:0.0	.	48	Q9NY91	SC5A4_HUMAN	M	48	ENSP00000266086:L48M	ENSP00000266086:L48M	L	-	1	2	SLC5A4	30980194	0.984000	0.35163	0.999000	0.59377	0.228000	0.25075	0.476000	0.22180	1.268000	0.44264	0.655000	0.94253	CTG		0.567	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		33	15	1	0	1.90571e-15	0.000132358	4.55252e-14	33	15				
TCF20	6942	broad.mit.edu	37	22	42575632	42575632	+	Missense_Mutation	SNP	G	G	C	rs185777730	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr22:42575632G>C	ENST00000359486.3	-	2	5868	c.5732C>G	c.(5731-5733)cCg>cGg	p.P1911R	TCF20_ENST00000404876.1_Missense_Mutation_p.P212R|TCF20_ENST00000335626.4_Missense_Mutation_p.P1911R	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1911					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.P1911R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AATGGCACACGGGTAATGGTA	0.502																																							uc003bcj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(5731-5733)CCG>CGG		transcription factor 20 isoform 1							233.0	186.0	202.0					22																	42575632		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42575632G>C	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5732C>G	22.37:g.42575632G>C	ENSP00000352463:p.Pro1911Arg					TCF20_uc003bck.1_Missense_Mutation_p.P1911R|TCF20_uc003bnt.2_Missense_Mutation_p.P1911R	p.P1911R	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			2	5866	-			1911			PHD-type; atypical.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.5732C>G	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297214	0.60086	.	.	ENSG00000100207	ENST00000359486;ENST00000335626;ENST00000404876	T;T;T	0.70631	-0.5;-0.5;-0.5	4.67	4.67	0.58626	Zinc finger, PHD-type (1);	0.000000	0.64402	D	0.000002	T	0.79879	0.4522	L	0.58583	1.82	0.43652	D	0.996069	P;P	0.49783	0.928;0.871	P;P	0.59703	0.784;0.862	T	0.81656	-0.0834	10	0.66056	D	0.02	-12.4386	16.8669	0.86032	0.0:0.0:1.0:0.0	.	1911;1911	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	R	1911;1911;212	ENSP00000352463:P1911R;ENSP00000335561:P1911R;ENSP00000385531:P212R	ENSP00000335561:P1911R	P	-	2	0	TCF20	40905576	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.539000	0.73856	2.587000	0.87381	0.655000	0.94253	CCG		0.502	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		4	118	0	0	0	1.23904e-05	0	4	118				
CDPF1	150383	broad.mit.edu	37	22	46641089	46641089	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr22:46641089C>G	ENST00000314567.3	-	4	695	c.272G>C	c.(271-273)cGg>cCg	p.R91P	CDPF1_ENST00000475605.1_5'UTR|CDPF1_ENST00000404583.1_Missense_Mutation_p.R86P|CDPF1_ENST00000404744.1_3'UTR	NM_207327.4	NP_997210.3	Q6NVV7	CDPF1_HUMAN	cysteine-rich, DPF motif domain containing 1	91								p.R91P(1)									GATGTTCTCCCGGACACAAGG	0.502																																							uc003bhe.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(271-273)CGG>CCG		hypothetical protein LOC150383							84.0	79.0	81.0					22																	46641089		2203	4300	6503	SO:0001583	missense	150383							g.chr22:46641089C>G		CCDS33670.1	22q13.31	2012-07-18	2012-07-18	2012-07-18	ENSG00000205643	ENSG00000205643			33710	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 40"""	C22orf40			Standard	NM_207327		Approved	LOC150383	uc003bhe.3	Q6NVV7	OTTHUMG00000030672	ENST00000314567.3:c.272G>C	22.37:g.46641089C>G	ENSP00000325301:p.Arg91Pro					C22orf40_uc003bhc.2_3'UTR|C22orf40_uc003bhd.2_Missense_Mutation_p.R86P|C22orf40_uc003bhf.2_RNA	p.R91P	NM_207327	NP_997210	Q6NVV7	CV040_HUMAN			4	313	-			91					A6NCA1|A9IU12|A9IU16|Q3ZCR8	Missense_Mutation	SNP	ENST00000314567.3	37	c.272G>C	CCDS33670.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533128	0.27387	.	.	ENSG00000205643	ENST00000404583;ENST00000314567	T;T	0.44881	0.91;0.91	5.56	-8.63	0.00878	Cysteine-rich domain, DPF-motif (2);	1.255780	0.04975	N	0.464622	T	0.32496	0.0831	L	0.38175	1.15	0.09310	N	0.999997	P;P	0.38148	0.62;0.467	B;B	0.36808	0.233;0.128	T	0.31668	-0.9935	10	0.33940	T	0.23	.	16.7746	0.85548	0.0:0.6905:0.0883:0.2212	.	91;86	Q6NVV7;F6RAJ7	CV040_HUMAN;.	P	86;91	ENSP00000384451:R86P;ENSP00000325301:R91P	ENSP00000325301:R91P	R	-	2	0	C22orf40	45019753	0.000000	0.05858	0.005000	0.12908	0.957000	0.61999	-0.494000	0.06451	-1.742000	0.01342	-1.027000	0.02421	CGG		0.502	CDPF1-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075560.4	NM_207327		4	38	0	0	0	1.23904e-05	0	4	38				
CNTN4	152330	broad.mit.edu	37	3	2928832	2928832	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:2928832G>T	ENST00000397461.1	+	9	1248	c.864G>T	c.(862-864)gaG>gaT	p.E288D	CNTN4_ENST00000358480.3_Missense_Mutation_p.E69D|CNTN4_ENST00000427331.1_Missense_Mutation_p.E288D|CNTN4_ENST00000418658.1_Missense_Mutation_p.E288D	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	288	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.E288D(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)		TTCAGCAGGAGGATGCTGGTT	0.398																																							uc003bpc.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(862-864)GAG>GAT		contactin 4 isoform a precursor							107.0	102.0	104.0					3																	2928832		1845	4099	5944	SO:0001583	missense	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.chr3:2928832G>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.864G>T	3.37:g.2928832G>T	ENSP00000380602:p.Glu288Asp					CNTN4_uc003bpb.1_Translation_Start_Site|CNTN4_uc003bpd.1_Missense_Mutation_p.E288D	p.E288D	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	9	1085	+		Ovarian(110;0.156)	288			Ig-like C2-type 3.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.864G>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.722760	0.68959	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480	D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05	5.73	-4.51	0.03483	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91129	0.7207	N	0.20328	0.56	0.80722	D	1	B;B	0.32876	0.001;0.388	B;B	0.41646	0.017;0.362	T	0.80162	-0.1497	10	0.38643	T	0.18	.	10.0604	0.42270	0.6292:0.0955:0.2753:0.0	.	288;288	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	D	288;288;288;69	ENSP00000396010:E288D;ENSP00000380602:E288D;ENSP00000413642:E288D;ENSP00000351267:E69D	ENSP00000351267:E69D	E	+	3	2	CNTN4	2903832	0.998000	0.40836	0.962000	0.40283	0.989000	0.77384	0.582000	0.23834	-0.659000	0.05359	-0.355000	0.07637	GAG		0.398	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			26	37	1	0	5.45024e-15	0.00047179	1.29302e-13	26	37				
GRM7	2917	broad.mit.edu	37	3	7620495	7620495	+	Silent	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:7620495G>T	ENST00000357716.4	+	8	2176	c.1902G>T	c.(1900-1902)acG>acT	p.T634T	GRM7_ENST00000486284.1_Silent_p.T634T|GRM7_ENST00000402647.2_Silent_p.T634T|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Silent_p.T634T|GRM7_ENST00000389336.4_Silent_p.T634T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	634					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.T634T(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TTCTTTTGACGGGCATCTTTC	0.498																																							uc003bqm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(3)	7						c.(1900-1902)ACG>ACT		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						142.0	141.0	141.0					3																	7620495		2203	4300	6503	SO:0001819	synonymous_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620495G>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1902G>T	3.37:g.7620495G>T						GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.T634T|GRM7_uc003bql.2_Silent_p.T634T|GRM7_uc003bqn.1_Silent_p.T217T|GRM7_uc010hch.1_Silent_p.T145T	p.T634T	NM_000844	NP_000835	Q14831	GRM7_HUMAN			8	2176	+			634			Helical; Name=2; (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.1902G>T	CCDS43042.1																																																																																				0.498	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		8	235	1	0	0.000157383	0.000157383	0.00327129	8	235				
GRM7	2917	broad.mit.edu	37	3	7620936	7620936	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:7620936C>G	ENST00000357716.4	+	8	2617	c.2343C>G	c.(2341-2343)ccC>ccG	p.P781P	GRM7_ENST00000486284.1_Silent_p.P781P|GRM7_ENST00000402647.2_Silent_p.P781P|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Silent_p.P781P|GRM7_ENST00000389336.4_Silent_p.P781P	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	781					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.P781P(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GGGGTGTACCCGAGAATTTTA	0.428																																							uc003bqm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(3)	7						c.(2341-2343)CCC>CCG		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						84.0	81.0	82.0					3																	7620936		2203	4300	6503	SO:0001819	synonymous_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7620936C>G	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2343C>G	3.37:g.7620936C>G						GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.P781P|GRM7_uc003bql.2_Silent_p.P781P|GRM7_uc003bqn.1_Silent_p.P364P|GRM7_uc010hch.1_Silent_p.P292P	p.P781P	NM_000844	NP_000835	Q14831	GRM7_HUMAN			8	2617	+			781			Cytoplasmic (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.2343C>G	CCDS43042.1																																																																																				0.428	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		4	68	0	0	0	1.23904e-05	0	4	68				
MKRN2	23609	broad.mit.edu	37	3	12623673	12623674	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:12623673_12623674CC>AA	ENST00000170447.7	+	8	1309_1310	c.1172_1173CC>AA	c.(1171-1173)cCC>cAA	p.P391Q	MKRN2_ENST00000411987.1_Missense_Mutation_p.P348Q|MKRN2_ENST00000448482.1_Missense_Mutation_p.P389Q	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	391					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P391Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						CGGCATGTCCCCAACAATGAAG	0.495																																							uc003bxd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1171-1173)CCC>CAA		makorin ring finger protein 2																																				SO:0001583	missense	23609					intracellular	ligase activity|nucleic acid binding|zinc ion binding	g.chr3:12623673_12623674CC>AA		CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"""RING-type (C3HC4) zinc fingers"""	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	Exception_encountered	3.37:g.12623673_12623674delinsAA	ENSP00000170447:p.Pro391Gln					MKRN2_uc003bxe.2_Missense_Mutation_p.P389Q|MKRN2_uc011aus.1_Missense_Mutation_p.P348Q	p.P391Q	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN			8	1228_1229	+			391					A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Missense_Mutation	DNP	ENST00000170447.7	37	c.1172_1173CC>AA	CCDS33702.1																																																																																				0.495	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339679.1	NM_014160		9	248	0	0	0	6.4e-05	0	9	248				
WNT7A	7476	broad.mit.edu	37	3	13896069	13896070	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:13896069_13896070CG>AT	ENST00000285018.4	-	3	833_834	c.529_530CG>AT	c.(529-531)CGg>ATg	p.R177M		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	177					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)	p.R177M(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CATGAGAGTCCGGGCATTCTGC	0.614																																							uc003bye.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(529-531)CGG>ATG		wingless-type MMTV integration site family,																																				SO:0001583	missense	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13896069_13896070CG>AT	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.529_530delinsAT	3.37:g.13896069_13896070delinsAT	ENSP00000285018:p.Arg177Met						p.R177M	NM_004625	NP_004616	O00755	WNT7A_HUMAN			3	834_835	-			177					Q96H90|Q9Y560	Missense_Mutation	DNP	ENST00000285018.4	37	c.529_530CG>AT	CCDS2616.1																																																																																				0.614	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		7	248	0	0	0	6.4e-05	0	7	248				
MRPS25	64432	broad.mit.edu	37	3	15094060	15094060	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:15094060C>G	ENST00000253686.2	-	4	550	c.410G>C	c.(409-411)cGg>cCg	p.R137P	MRPS25_ENST00000496484.1_5'Flank|MRPS25_ENST00000444840.2_Missense_Mutation_p.G108R|MRPS25_ENST00000449354.2_Intron	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	137						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(1)	2						GATGCACTCCCGCAGGCAGTA	0.582																																							uc003bzl.2		NA																	0					0						c.(409-411)CGG>CCG		mitochondrial ribosomal protein S25							196.0	196.0	196.0					3																	15094060		2203	4300	6503	SO:0001583	missense	64432				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:15094060C>G	AB061208	CCDS2622.1	3p25	2012-09-13			ENSG00000131368	ENSG00000131368		"""Mitochondrial ribosomal proteins / small subunits"""	14511	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S25"""	611987				11279123	Standard	NM_022497		Approved	MRP-S25, FLJ00023, DKFZp313H0817, RPMS25	uc003bzl.3	P82663	OTTHUMG00000129836	ENST00000253686.2:c.410G>C	3.37:g.15094060C>G	ENSP00000253686:p.Arg137Pro					MRPS25_uc011avl.1_Missense_Mutation_p.G108R|MRPS25_uc011avm.1_Intron	p.R137P	NM_022497	NP_071942	P82663	RT25_HUMAN			4	525	-			137					B4DFJ5|B4DQG6|Q9H7P5	Missense_Mutation	SNP	ENST00000253686.2	37	c.410G>C	CCDS2622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.1|20.1	3.935188|3.935188	0.73442|0.73442	.|.	.|.	ENSG00000131368|ENSG00000131368	ENST00000444840|ENST00000253686	.|.	.|.	.|.	5.74|5.74	3.89|3.89	0.44902|0.44902	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.74030|0.74030	0.3663|0.3663	M|M	0.87180|0.87180	2.865|2.865	0.25656|0.25656	N|N	0.986053|0.986053	B|D	0.17465|0.69078	0.022|0.997	B|D	0.14578|0.65140	0.011|0.932	T|T	0.71034|0.71034	-0.4709|-0.4709	8|9	0.13470|0.87932	T|D	0.59|0	-41.2108|-41.2108	15.1634|15.1634	0.72801|0.72801	0.0:0.7314:0.2685:0.0|0.0:0.7314:0.2685:0.0	.|.	108|137	B4DQG6|P82663	.|RT25_HUMAN	R|P	108|137	.|.	ENSP00000407733:G108R|ENSP00000253686:R137P	G|R	-|-	1|2	0|0	MRPS25|MRPS25	15069064|15069064	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.657000|4.657000	0.61490|0.61490	0.718000|0.718000	0.32166|0.32166	0.491000|0.491000	0.48974|0.48974	GGG|CGG		0.582	MRPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252076.2	NM_022497		5	234	0	0	0	8.12818e-05	0	5	234				
OXSM	54995	broad.mit.edu	37	3	25833265	25833265	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:25833265C>G	ENST00000280701.3	+	2	853	c.754C>G	c.(754-756)Cgg>Ggg	p.R252G	NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Intron|OXSM_ENST00000449808.1_3'UTR	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	252					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.R252G(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TTCCAGAGCCCGGGCTCTGAG	0.478																																							uc003cdn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(754-756)CGG>GGG		3-oxoacyl-ACP synthase, mitochondrial isoform 1							85.0	88.0	87.0					3																	25833265		2203	4300	6503	SO:0001583	missense	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25833265C>G	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.754C>G	3.37:g.25833265C>G	ENSP00000280701:p.Arg252Gly					NGLY1_uc011awo.1_5'Flank|OXSM_uc011awp.1_5'UTR|OXSM_uc010hfh.2_Intron	p.R252G	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN			2	861	+			252						Missense_Mutation	SNP	ENST00000280701.3	37	c.754C>G	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460754	0.84317	.	.	ENSG00000151093	ENST00000280701	.	.	.	6.16	6.16	0.99307	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.054755	0.85682	D	0.000000	T	0.69504	0.3118	L	0.39020	1.185	0.80722	D	1	P	0.40875	0.731	P	0.55545	0.778	T	0.69617	-0.5097	9	0.87932	D	0	-13.6695	16.3585	0.83245	0.1324:0.8676:0.0:0.0	.	252	Q9NWU1	OXSM_HUMAN	G	252	.	ENSP00000280701:R252G	R	+	1	2	OXSM	25808269	0.999000	0.42202	1.000000	0.80357	1.000000	0.99986	3.970000	0.56824	2.937000	0.99478	0.650000	0.86243	CGG		0.478	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		4	118	0	0	0	8.12818e-05	0	4	118				
TRANK1	9881	broad.mit.edu	37	3	36873406	36873406	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:36873406C>G	ENST00000429976.2	-	21	7783	c.7536G>C	c.(7534-7536)tcG>tcC	p.S2512S	TRANK1_ENST00000428977.2_Silent_p.S1962S|TRANK1_ENST00000301807.6_Silent_p.S1962S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2512							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CAGCCTCACCCGAGACCACAT	0.527																																							uc003cgj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(5884-5886)TCG>TCC		lupus brain antigen 1							120.0	122.0	122.0					3																	36873406		2174	4278	6452	SO:0001819	synonymous_variant	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36873406C>G	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7536G>C	3.37:g.36873406C>G							p.S1962S	NM_014831	NP_055646	O15050	TRNK1_HUMAN			12	6188	-			2512					Q8N8K0	Silent	SNP	ENST00000429976.2	37	c.5886G>C	CCDS46789.2																																																																																				0.527	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		5	97	0	0	0	3.59834e-05	0	5	97				
ACVR2B	93	broad.mit.edu	37	3	38521287	38521287	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:38521287G>T	ENST00000352511.4	+	7	1401	c.929G>T	c.(928-930)gGc>gTc	p.G310V		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	310	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.G310V(1)		lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		TGGTGCCGTGGCGAGGGCCAC	0.582											OREG0015478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003cif.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(928-930)GGC>GTC		activin A receptor, type IIB precursor							111.0	83.0	92.0					3																	38521287		2203	4300	6503	SO:0001583	missense	93				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr3:38521287G>T	X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.929G>T	3.37:g.38521287G>T	ENSP00000340361:p.Gly310Val		OREG0015478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	878	ACVR2B_uc003cig.2_Missense_Mutation_p.G101V	p.G310V	NM_001106	NP_001097	Q13705	AVR2B_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)	7	953	+	Medulloblastoma(35;0.163)		310			Cytoplasmic (Potential).|Protein kinase.		Q4VAV0	Missense_Mutation	SNP	ENST00000352511.4	37	c.929G>T	CCDS2679.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978649	0.53720	.	.	ENSG00000114739	ENST00000352511	D	0.85861	-2.04	5.01	5.01	0.66863	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.114890	0.64402	D	0.000014	D	0.83709	0.5313	L	0.56124	1.755	0.80722	D	1	B	0.09022	0.002	B	0.13407	0.009	T	0.80650	-0.1288	10	0.66056	D	0.02	.	18.49	0.90843	0.0:0.0:1.0:0.0	.	310	Q13705	AVR2B_HUMAN	V	310	ENSP00000340361:G310V	ENSP00000340361:G310V	G	+	2	0	ACVR2B	38496291	1.000000	0.71417	0.938000	0.37757	0.971000	0.66376	7.611000	0.82962	2.598000	0.87819	0.655000	0.94253	GGC		0.582	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254059.3	NM_001106		19	29	1	0	8.34094e-07	0.000132079	1.84817e-05	19	29				
ZNF621	285268	broad.mit.edu	37	3	40574363	40574363	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:40574363G>T	ENST00000339296.5	+	5	1554	c.1102G>T	c.(1102-1104)Gtt>Ttt	p.V368F	ZNF621_ENST00000431278.1_Missense_Mutation_p.V257F|ZNF621_ENST00000403205.2_Missense_Mutation_p.V368F|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000310898.1_Intron	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	368					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.V368F(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		catacctcctgttcttctcca	0.527																																							uc003ckm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1102-1104)GTT>TTT		zinc finger protein 621							100.0	69.0	79.0					3																	40574363		2203	4300	6503	SO:0001583	missense	285268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:40574363G>T	AK127181	CCDS2693.1, CCDS74920.1	3p21.33	2013-01-08			ENSG00000172888	ENSG00000172888		"""Zinc fingers, C2H2-type"", ""-"""	24787	protein-coding gene	gene with protein product							Standard	XM_005265079		Approved	FLJ45246	uc003ckm.2	Q6ZSS3	OTTHUMG00000131389	ENST00000339296.5:c.1102G>T	3.37:g.40574363G>T	ENSP00000340841:p.Val368Phe					ZNF621_uc003ckn.2_Missense_Mutation_p.V368F|ZNF621_uc003cko.2_Missense_Mutation_p.V333F|ZNF621_uc011aze.1_Missense_Mutation_p.V360F	p.V368F	NM_001098414	NP_001091884	Q6ZSS3	ZN621_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)	5	1318	+			368					Q14DC7|Q8TE91	Missense_Mutation	SNP	ENST00000339296.5	37	c.1102G>T	CCDS2693.1	.	.	.	.	.	.	.	.	.	.	g	10.95	1.495216	0.26774	.	.	ENSG00000172888	ENST00000403205;ENST00000339296;ENST00000431278	T;T;T	0.08370	3.29;3.29;3.1	4.23	-0.859	0.10685	.	1.140560	0.06927	N	0.810492	T	0.05044	0.0135	N	0.14661	0.345	0.09310	N	1	B;B	0.21381	0.037;0.055	B;B	0.16289	0.014;0.015	T	0.42732	-0.9434	10	0.59425	D	0.04	.	5.3067	0.15807	0.3438:0.1396:0.5166:0.0	.	257;368	C9JZC2;Q6ZSS3	.;ZN621_HUMAN	F	368;368;257	ENSP00000386051:V368F;ENSP00000340841:V368F;ENSP00000413236:V257F	ENSP00000340841:V368F	V	+	1	0	ZNF621	40549367	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.532000	0.06164	-0.300000	0.08895	-0.158000	0.13435	GTT		0.527	ZNF621-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254178.2	NM_198484		9	6	1	0	0.000274275	0.000274275	0.00558288	9	6				
CDCP1	64866	broad.mit.edu	37	3	45127529	45127529	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:45127529C>G	ENST00000296129.1	-	9	2246	c.2112G>C	c.(2110-2112)gtG>gtC	p.V704V		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	704						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V704V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TGTAGATACCCACAGCGGGGC	0.448																																							uc003com.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2110-2112)GTG>GTC		CUB domain-containing protein 1 isoform 1							153.0	156.0	155.0					3																	45127529		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45127529C>G	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.2112G>C	3.37:g.45127529C>G							p.V704V	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	9	2247	-			704			Cytoplasmic (Potential).		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.2112G>C	CCDS2727.1																																																																																				0.448	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		7	293	0	0	0	8.12818e-05	0	7	293				
ATRIP	84126	broad.mit.edu	37	3	48502063	48502063	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:48502063C>G	ENST00000320211.3	+	8	1723	c.1610C>G	c.(1609-1611)cCa>cGa	p.P537R	ATRIP_ENST00000357105.6_Missense_Mutation_p.P410R|ATRIP_ENST00000346691.4_Missense_Mutation_p.P537R|ATRIP_ENST00000412052.1_Missense_Mutation_p.P444R	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	537					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.P537R(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGACAGCACCCACTGTTGAAG	0.522								Other conserved DNA damage response genes																															uc003ctf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1609-1611)CCA>CGA	Other_conserved_DNA_damage_response_genes	ATR interacting protein isoform 1							92.0	85.0	87.0					3																	48502063		2203	4300	6503	SO:0001583	missense	84126				DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	g.chr3:48502063C>G	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.1610C>G	3.37:g.48502063C>G	ENSP00000323099:p.Pro537Arg					ATRIP_uc011bbj.1_Missense_Mutation_p.P410R|ATRIP_uc003ctg.1_Missense_Mutation_p.P537R|TREX1_uc010hjy.2_Intron	p.P537R	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	8	1642	+			537					A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	c.1610C>G	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.147695	0.77888	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.66280	2.57;-0.2;2.57;2.57	6.17	6.17	0.99709	.	0.101130	0.64402	D	0.000002	T	0.79191	0.4404	M	0.70275	2.135	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76793	-0.2828	9	.	.	.	-15.9893	18.3732	0.90420	0.0:1.0:0.0:0.0	.	537;537	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	R	537;537;410;444	ENSP00000323099:P537R;ENSP00000302338:P537R;ENSP00000349620:P410R;ENSP00000400930:P444R	.	P	+	2	0	ATRIP	48477067	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	5.359000	0.66074	2.941000	0.99782	0.655000	0.94253	CCA		0.522	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384		4	72	0	0	0	0.00024832	0	4	72				
IP6K2	51447	broad.mit.edu	37	3	48725827	48725827	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:48725827G>A	ENST00000328631.5	-	6	1383	c.1160C>T	c.(1159-1161)aCc>aTc	p.T387I	NCKIPSD_ENST00000416649.2_5'Flank|NCKIPSD_ENST00000341520.4_5'Flank|NCKIPSD_ENST00000294129.2_5'Flank	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	387					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.T387I(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CCTGCAGGTGGTGTGTGCAAA	0.552																																							uc003cup.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1159-1161)ACC>ATC		inositol hexaphosphate kinase 2 isoform a							117.0	111.0	113.0					3																	48725827		2203	4300	6503	SO:0001583	missense	51447				negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:48725827G>A	AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.1160C>T	3.37:g.48725827G>A	ENSP00000331103:p.Thr387Ile					NCKIPSD_uc003cum.2_5'Flank|NCKIPSD_uc003cun.2_5'Flank|NCKIPSD_uc010hkh.1_5'Flank|IP6K2_uc003cuq.2_Missense_Mutation_p.T387I	p.T387I	NM_001005909	NP_001005909	Q9UHH9	IP6K2_HUMAN			6	1404	-			387					A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Missense_Mutation	SNP	ENST00000328631.5	37	c.1160C>T	CCDS2777.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.792756	0.90453	.	.	ENSG00000068745	ENST00000328631	T	0.18502	2.21	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.48429	0.1499	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.54111	-0.8342	10	0.87932	D	0	-15.4113	19.0652	0.93108	0.0:0.0:1.0:0.0	.	387	Q9UHH9	IP6K2_HUMAN	I	387	ENSP00000331103:T387I	ENSP00000331103:T387I	T	-	2	0	IP6K2	48700831	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.864000	0.99589	2.483000	0.83821	0.650000	0.86243	ACC		0.552	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	NM_016291		18	38	0	0	0	7.07596e-05	0	18	38				
LAMB2	3913	broad.mit.edu	37	3	49168416	49168416	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:49168416G>C	ENST00000418109.1	-	8	1046	c.882C>G	c.(880-882)ccC>ccG	p.P294P	LAMB2_ENST00000305544.4_Silent_p.P294P	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	294	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.P294P(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCCCTGGGGCGGGTGCACACT	0.612																																							uc003cwe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(880-882)CCC>CCG		laminin, beta 2 precursor							103.0	100.0	101.0					3																	49168416		2203	4300	6503	SO:0001819	synonymous_variant	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49168416G>C		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.882C>G	3.37:g.49168416G>C						LAMB2_uc003cwf.1_Silent_p.P294P	p.P294P	NM_002292	NP_002283	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	7	1181	-			294			Laminin EGF-like 1.		Q16321	Silent	SNP	ENST00000418109.1	37	c.882C>G	CCDS2789.1																																																																																				0.612	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		4	54	0	0	0	1.23904e-05	0	4	54				
RBM6	10180	broad.mit.edu	37	3	50091820	50091820	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:50091820C>A	ENST00000266022.4	+	8	1944	c.1685C>A	c.(1684-1686)cCa>cAa	p.P562Q	RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000422955.1_Missense_Mutation_p.P40Q|RBM6_ENST00000442092.1_Missense_Mutation_p.P40Q|RBM6_ENST00000443081.1_Missense_Mutation_p.P430Q|RBM6_ENST00000441115.1_3'UTR	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	562					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P562Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TGCAAGAACCCAAGAGAAGGT	0.383																																							uc003cyc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1684-1686)CCA>CAA		RNA binding motif protein 6							180.0	187.0	185.0					3																	50091820		2203	4300	6503	SO:0001583	missense	10180				RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr3:50091820C>A	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.1685C>A	3.37:g.50091820C>A	ENSP00000266022:p.Pro562Gln					RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Missense_Mutation_p.P81Q|RBM6_uc003cyd.2_Missense_Mutation_p.P40Q|RBM6_uc003cye.2_Missense_Mutation_p.P40Q|RBM6_uc011bdi.1_5'UTR|RBM6_uc010hld.1_RNA|RBM6_uc010hle.1_RNA|RBM6_uc010hlf.1_RNA	p.P562Q	NM_005777	NP_005768	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	8	1818	+			562					O60549|O75524|Q86SS3	Missense_Mutation	SNP	ENST00000266022.4	37	c.1685C>A	CCDS2809.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358234	0.61403	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000422955;ENST00000446471	T;T;T;T;D	0.82255	0.09;0.74;0.76;0.09;-1.59	5.42	5.42	0.78866	.	0.596008	0.17146	N	0.185278	D	0.86818	0.6024	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.959;1.0	P;D	0.87578	0.65;0.998	D	0.84847	0.0811	9	.	.	.	-3.6406	16.9973	0.86371	0.0:1.0:0.0:0.0	.	430;562	E9PGM9;P78332	.;RBM6_HUMAN	Q	40;562;430;40;40	ENSP00000393530:P40Q;ENSP00000266022:P562Q;ENSP00000396466:P430Q;ENSP00000392939:P40Q;ENSP00000394336:P40Q	.	P	+	2	0	RBM6	50066824	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	4.412000	0.59787	2.542000	0.85734	0.650000	0.86243	CCA		0.383	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		11	271	1	0	3.07112e-06	6.40141e-05	6.7398e-05	11	271				
IQCF1	132141	broad.mit.edu	37	3	51937040	51937040	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:51937040C>T	ENST00000310914.5	-	2	131	c.69G>A	c.(67-69)atG>atA	p.M23I		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	23								p.M23I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AATGGGTTGGCATCTCCTTCT	0.512																																							uc003dbv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(67-69)ATG>ATA		IQ motif containing F1							482.0	442.0	455.0					3																	51937040		2203	4300	6503	SO:0001583	missense	132141							g.chr3:51937040C>T	BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.69G>A	3.37:g.51937040C>T	ENSP00000307958:p.Met23Ile					IQCF1_uc003dbq.3_RNA	p.M23I	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	167	-			23					Q8N711	Missense_Mutation	SNP	ENST00000310914.5	37	c.69G>A	CCDS2836.1	.	.	.	.	.	.	.	.	.	.	C	6.506	0.461558	0.12342	.	.	ENSG00000173389	ENST00000535733;ENST00000310914	T	0.29142	1.58	3.87	-3.56	0.04626	.	4.932270	0.00447	N	0.000094	T	0.13927	0.0337	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09796	-1.0658	10	0.39692	T	0.17	-15.589	1.3911	0.02250	0.149:0.2571:0.1465:0.4475	.	23	Q8N6M8	IQCF1_HUMAN	I	23	ENSP00000307958:M23I	ENSP00000307958:M23I	M	-	3	0	IQCF1	51912080	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.593000	0.05740	-0.842000	0.04195	-2.713000	0.00133	ATG		0.512	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397		255	406	0	0	0	0.000147903	0	255	406				
PCBP4	57060	broad.mit.edu	37	3	51992957	51992957	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:51992957C>G	ENST00000461554.1	-	13	1103	c.772G>C	c.(772-774)Ggg>Cgg	p.G258R	PCBP4_ENST00000428823.2_Missense_Mutation_p.G215R|PCBP4_ENST00000471622.1_Missense_Mutation_p.G258R|PCBP4_ENST00000484633.1_Missense_Mutation_p.G215R|PCBP4_ENST00000355852.2_Missense_Mutation_p.G258R|PCBP4_ENST00000395014.2_Missense_Mutation_p.G279R|RP11-155D18.12_ENST00000488257.1_RNA|PCBP4_ENST00000395013.3_Missense_Mutation_p.G98R|PCBP4_ENST00000322099.7_Missense_Mutation_p.G258R	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	258	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G279R(1)|p.G258R(1)		endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCTGGCGCCCGATCACACAG	0.617																																							uc003dcd.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(772-774)GGG>CGG		poly(rC) binding protein 4 isoform c							106.0	99.0	101.0					3																	51992957		2203	4300	6503	SO:0001583	missense	57060					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding	g.chr3:51992957C>G	AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"""RNA binding protein MCG10"", ""LYST-interacting protein"", ""alphaCP-4 protein"""	608503	"""poly(rC)-binding protein 4"""			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.772G>C	3.37:g.51992957C>G	ENSP00000417196:p.Gly258Arg					PCBP4_uc003dcb.1_Missense_Mutation_p.G224R|PCBP4_uc003dcc.1_Missense_Mutation_p.G279R|PCBP4_uc003dce.1_Missense_Mutation_p.R259P|PCBP4_uc003dcf.1_Missense_Mutation_p.G258R|PCBP4_uc003dcg.1_Missense_Mutation_p.G224R|PCBP4_uc003dch.1_Missense_Mutation_p.G258R|PCBP4_uc003dci.1_Missense_Mutation_p.G98R|PCBP4_uc003dcj.1_Missense_Mutation_p.G258R|PCBP4_uc003dck.1_Missense_Mutation_p.G215R|PCBP4_uc003dcl.1_Missense_Mutation_p.G258R	p.G258R	NM_033010	NP_127503	P57723	PCBP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	11	1168	-			258			KH 3.		Q96AH7	Missense_Mutation	SNP	ENST00000461554.1	37	c.772G>C	CCDS2839.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.024215	0.93462	.	.	ENSG00000090097	ENST00000355852;ENST00000322099;ENST00000461554;ENST00000484633;ENST00000395013;ENST00000428823;ENST00000395014;ENST00000471622;ENST00000294192	D;D;D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.25	5.25	0.73442	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.96390	0.8822	H	0.95816	3.725	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.981;0.995;0.998;0.995;0.999;1.0	D	0.97587	1.0114	10	0.87932	D	0	-6.2806	18.4584	0.90729	0.0:1.0:0.0:0.0	.	258;215;98;258;279;224	C9J0A4;P57723-2;B3KM64;P57723;Q9GZT1;Q9HCU2	.;.;.;PCBP4_HUMAN;.;.	R	258;258;258;215;98;215;279;258;258	ENSP00000348111:G258R;ENSP00000322341:G258R;ENSP00000417196:G258R;ENSP00000417100:G215R;ENSP00000378460:G98R;ENSP00000395030:G215R;ENSP00000378461:G279R;ENSP00000418925:G258R	ENSP00000294192:G258R	G	-	1	0	PCBP4	51967997	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.811000	0.86092	2.429000	0.82318	0.563000	0.77884	GGG		0.617	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1	NM_020418		4	99	0	0	0	1.23904e-05	0	4	99				
STAB1	23166	broad.mit.edu	37	3	52537484	52537484	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:52537484G>C	ENST00000321725.6	+	8	895	c.819G>C	c.(817-819)aaG>aaC	p.K273N		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	273					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)	p.K273N(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTCTGCCCAAGGACCCATGCA	0.622																																							uc003dej.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9						c.(817-819)AAG>AAC		stabilin 1 precursor							86.0	81.0	83.0					3																	52537484		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52537484G>C	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.819G>C	3.37:g.52537484G>C	ENSP00000312946:p.Lys273Asn					STAB1_uc003dei.1_Missense_Mutation_p.K273N	p.K273N	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	8	893	+			273			Extracellular (Potential).		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.819G>C	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476820	0.26511	.	.	ENSG00000010327	ENST00000321725	T	0.07800	3.16	5.58	-0.972	0.10300	.	0.995032	0.08152	N	0.989957	T	0.04182	0.0116	N	0.16790	0.44	0.09310	N	0.999997	B;P	0.34546	0.087;0.456	B;B	0.29862	0.021;0.108	T	0.38824	-0.9643	10	0.38643	T	0.18	.	3.0988	0.06319	0.1559:0.3875:0.3232:0.1334	.	273;273	Q9NY15;Q9NY15-2	STAB1_HUMAN;.	N	273	ENSP00000312946:K273N	ENSP00000312946:K273N	K	+	3	2	STAB1	52512524	0.000000	0.05858	0.373000	0.26003	0.554000	0.35429	-0.752000	0.04797	-0.526000	0.06383	-0.140000	0.14226	AAG		0.622	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		3	40	0	0	0	6.4e-05	0	3	40				
CNTN3	5067	broad.mit.edu	37	3	74413646	74413646	+	Silent	SNP	A	A	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:74413646A>C	ENST00000263665.6	-	9	1212	c.1185T>G	c.(1183-1185)gtT>gtG	p.V395V		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	395	Ig-like C2-type 4.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V395V(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CACTGGAATAAACAAGGCCAT	0.378																																							uc003dpm.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(1183-1185)GTT>GTG		contactin 3 precursor							192.0	171.0	178.0					3																	74413646		2203	4300	6503	SO:0001819	synonymous_variant	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74413646A>C	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1185T>G	3.37:g.74413646A>C							p.V395V	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	9	1265	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	395			Ig-like C2-type 4.		B9EK50|Q9H039	Silent	SNP	ENST00000263665.6	37	c.1185T>G	CCDS33790.1																																																																																				0.378	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		21	43	0	0	0	0.000375601	0	21	43				
ROBO2	6092	broad.mit.edu	37	3	77693982	77693982	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:77693982G>C	ENST00000461745.1	+	25	4962	c.4062G>C	c.(4060-4062)caG>caC	p.Q1354H	ROBO2_ENST00000487694.3_Missense_Mutation_p.Q1370H|ROBO2_ENST00000332191.8_Missense_Mutation_p.Q1415H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1354					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.Q1354H(1)|p.Q1370H(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAGGCCACCAGCGCAATGCCA	0.493																																							uc003dpy.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(4060-4062)CAG>CAC		roundabout, axon guidance receptor, homolog 2							114.0	117.0	116.0					3																	77693982		2057	4192	6249	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77693982G>C	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.4062G>C	3.37:g.77693982G>C	ENSP00000417164:p.Gln1354His					ROBO2_uc003dpz.2_Missense_Mutation_p.Q1419H|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.Q1358H	p.Q1354H	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	25	4705	+			1354			Cytoplasmic (Potential).		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.4062G>C	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.71|13.71	2.317778|2.317778	0.40996|0.40996	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000475334;ENST00000490534|ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	.|T;T;T	.|0.69306	.|-0.31;-0.27;-0.39	5.85|5.85	3.9|3.9	0.45041|0.45041	.|.	.|0.160789	.|0.28809	.|N	.|0.014075	T|T	0.54095|0.54095	0.1837|0.1837	N|N	0.19112|0.19112	0.55|0.55	.|.	.|.	.|.	.|B;P;B	.|0.35656	.|0.38;0.514;0.38	.|B;B;B	.|0.41236	.|0.191;0.351;0.191	T|T	0.64867|0.64867	-0.6306|-0.6306	4|9	.|0.66056	.|D	.|0.02	.|.	8.9837|8.9837	0.35980|0.35980	0.321:0.0:0.679:0.0|0.321:0.0:0.679:0.0	.|.	.|1370;1415;1354	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	P|H	186;174|1370;1370;1354;1415	.|ENSP00000417335:Q1370H;ENSP00000417164:Q1354H;ENSP00000327536:Q1415H	.|ENSP00000327536:Q1415H	A|Q	+|+	1|3	0|2	ROBO2|ROBO2	77776672|77776672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.147000|0.147000	0.21601|0.21601	3.305000|3.305000	0.51873|0.51873	0.697000|0.697000	0.31718|0.31718	0.655000|0.655000	0.94253|0.94253	GCG|CAG		0.493	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		50	66	0	0	0	0.000147903	0	50	66				
GPR128	84873	broad.mit.edu	37	3	100362125	100362125	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:100362125G>C	ENST00000273352.3	+	7	982	c.714G>C	c.(712-714)atG>atC	p.M238I	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Intron	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	238					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.M238I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TTGAGCAAATGGAGACTTATT	0.363																																					Pancreas(87;185 1975 7223 18722)	Pancreas(87;185 1975 7223 18722)	uc003duc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(712-714)ATG>ATC		G protein-coupled receptor 128 precursor							133.0	143.0	140.0					3																	100362125		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100362125G>C	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.714G>C	3.37:g.100362125G>C	ENSP00000273352:p.Met238Ile					GPR128_uc011bhc.1_Intron	p.M238I	NM_032787	NP_116176	Q96K78	GP128_HUMAN			7	982	+			238			Extracellular (Potential).		Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.714G>C	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687317	0.29962	.	.	ENSG00000144820	ENST00000273352	T	0.36157	1.27	4.91	-0.0787	0.13714	.	0.085846	0.49305	N	0.000150	T	0.22627	0.0546	L	0.42245	1.32	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.05209	-1.0899	10	0.27082	T	0.32	.	4.0641	0.09852	0.3525:0.0:0.4927:0.1548	.	238	Q96K78	GP128_HUMAN	I	238	ENSP00000273352:M238I	ENSP00000273352:M238I	M	+	3	0	GPR128	101844815	1.000000	0.71417	0.965000	0.40720	0.952000	0.60782	0.228000	0.17814	0.024000	0.15214	0.650000	0.86243	ATG		0.363	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			6	193	0	0	0	0.000157383	0	6	193				
SENP7	57337	broad.mit.edu	37	3	101231956	101231956	+	Missense_Mutation	SNP	C	C	G	rs367645612		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:101231956C>G	ENST00000394095.2	-	1	72	c.19G>C	c.(19-21)Ggg>Cgg	p.G7R	SENP7_ENST00000358203.3_5'UTR|SENP7_ENST00000348610.3_5'UTR|SENP7_ENST00000394091.1_5'UTR|SENP7_ENST00000314261.7_Missense_Mutation_p.G7R|SENP7_ENST00000394094.2_Missense_Mutation_p.G7R	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	7						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.G7R(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGCCGTCGCCCGAGCTTTCTC	0.607																																							uc003dut.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)	5						c.(19-21)GGG>CGG		sentrin/SUMO-specific protease 7 isoform 1							89.0	90.0	90.0					3																	101231956		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101231956C>G		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.19G>C	3.37:g.101231956C>G	ENSP00000377655:p.Gly7Arg					SENP7_uc003duu.2_Missense_Mutation_p.G7R|SENP7_uc003duv.2_5'UTR|SENP7_uc003duw.2_Missense_Mutation_p.G7R|SENP7_uc003dux.2_5'UTR	p.G7R	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			1	130	-			7					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.19G>C	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711201	0.68730	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261	T;T;T	0.23754	2.13;1.9;1.89	4.34	4.34	0.51931	.	.	.	.	.	T	0.32041	0.0816	N	0.19112	0.55	0.80722	D	1	D;D	0.63046	0.992;0.987	D;P	0.63381	0.914;0.822	T	0.11108	-1.0601	9	0.87932	D	0	-3.8287	12.5465	0.56203	0.0:1.0:0.0:0.0	.	7;7	Q9BQF6-5;Q9BQF6	.;SENP7_HUMAN	R	7	ENSP00000377655:G7R;ENSP00000377654:G7R;ENSP00000313624:G7R	ENSP00000313624:G7R	G	-	1	0	SENP7	102714646	0.999000	0.42202	0.964000	0.40570	0.461000	0.32589	3.177000	0.50871	2.388000	0.81334	0.655000	0.94253	GGG		0.607	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		4	150	0	0	0	0.00024832	0	4	150				
CEP97	79598	broad.mit.edu	37	3	101477064	101477064	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:101477064C>G	ENST00000341893.3	+	9	2366	c.1614C>G	c.(1612-1614)ccC>ccG	p.P538P	CEP97_ENST00000494050.1_Silent_p.P479P|CEP97_ENST00000327230.4_Silent_p.P538P			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	538	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)		p.P538P(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						AGAAACTTCCCATGATTTTAA	0.413																																							uc003dvk.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1612-1614)CCC>CCG		centrosomal protein 97kDa							98.0	109.0	105.0					3																	101477064		2203	4300	6503	SO:0001819	synonymous_variant	79598					centrosome|nucleus	protein binding	g.chr3:101477064C>G	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1614C>G	3.37:g.101477064C>G						CEP97_uc010hpm.1_Silent_p.P504P|CEP97_uc011bhf.1_Silent_p.P479P|CEP97_uc003dvl.1_Silent_p.P234P|CEP97_uc003dvm.1_Silent_p.P376P	p.P538P	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN			9	1641	+			538			CEP110 binding.		B5MDY8|Q8NA71|Q9H5T9	Silent	SNP	ENST00000341893.3	37	c.1614C>G	CCDS2944.1																																																																																				0.413	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		5	207	0	0	0	1.23904e-05	0	5	207				
MAATS1	89876	broad.mit.edu	37	3	119449158	119449158	+	Missense_Mutation	SNP	C	C	G	rs374317339		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:119449158C>G	ENST00000273390.5	+	8	1029	c.952C>G	c.(952-954)Cgg>Ggg	p.R318G		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	318						mitochondrion (GO:0005739)		p.R318W(1)									CTTGAATGCCCGGTGGTCTAA	0.438																																							uc003ede.3		NA																	1	Substitution - Missense(1)		kidney(1)	ovary(2)|pancreas(1)	3						c.(952-954)CGG>GGG		AAT1-alpha		C	GLY/ARG	0,4406		0,0,2203	192.0	196.0	195.0		952	3.3	1.0	3		195	1,8599	1.2+/-3.3	0,1,4299	no	missense	C3orf15	NM_033364.3	125	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign	318/768	119449158	1,13005	2203	4300	6503	SO:0001583	missense	89876					mitochondrion	protein binding	g.chr3:119449158C>G	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.952C>G	3.37:g.119449158C>G	ENSP00000273390:p.Arg318Gly					C3orf15_uc010hqy.1_Missense_Mutation_p.R318G|C3orf15_uc010hqz.2_Missense_Mutation_p.R256G|C3orf15_uc011bjd.1_Missense_Mutation_p.R192G|C3orf15_uc011bje.1_Missense_Mutation_p.R298G|C3orf15_uc010hra.1_Missense_Mutation_p.R79G	p.R318G	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN		GBM - Glioblastoma multiforme(114;0.186)	8	1029	+			318					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	ENST00000273390.5	37	c.952C>G	CCDS2994.1	.	.	.	.	.	.	.	.	.	.	C	8.894	0.954821	0.18431	0.0	1.16E-4	ENSG00000183833	ENST00000273390	T	0.21191	2.02	5.2	3.3	0.37823	.	0.711873	0.14769	N	0.299528	T	0.20129	0.0484	L	0.50333	1.59	0.80722	D	1	B;P;B;P;B	0.43973	0.429;0.579;0.294;0.823;0.312	B;B;B;B;B	0.38755	0.281;0.178;0.178;0.254;0.197	T	0.02417	-1.1162	10	0.23302	T	0.38	-20.1193	13.8788	0.63670	0.2982:0.7018:0.0:0.0	.	318;79;256;318;318	Q7Z4T9;Q9UFB4;Q7Z4T9-3;Q4G0Y0;Q7Z4T9-7	AAT1_HUMAN;.;.;.;.	G	318	ENSP00000273390:R318G	ENSP00000273390:R318G	R	+	1	2	C3orf15	120931848	0.011000	0.17503	0.966000	0.40874	0.751000	0.42716	1.946000	0.40283	0.590000	0.29694	0.557000	0.71058	CGG		0.438	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	NM_033364		7	234	0	0	0	0.000157383	0	7	234				
POLQ	10721	broad.mit.edu	37	3	121212468	121212468	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:121212468C>A	ENST00000264233.5	-	15	2507	c.2379G>T	c.(2377-2379)ctG>ctT	p.L793L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	793					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.L928L(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)		CCAGGTCACACAGCTCCCTCT	0.473								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(2377-2379)CTG>CTT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							79.0	76.0	77.0					3																	121212468		2203	4300	6503	SO:0001819	synonymous_variant	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.chr3:121212468C>A	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.2379G>T	3.37:g.121212468C>A						POLQ_uc003eed.2_5'Flank	p.L793L	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	15	2508	-			793					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.2379G>T	CCDS33833.1																																																																																				0.473	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		15	20	1	0	0.000308642	0.000308642	0.00625466	15	20				
SLC15A2	6565	broad.mit.edu	37	3	121631924	121631925	+	Missense_Mutation	DNP	CC	CC	AA	rs553052850		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:121631924_121631925CC>AA	ENST00000489711.1	+	5	873_874	c.485_486CC>AA	c.(484-486)cCC>cAA	p.P162Q	SLC15A2_ENST00000295605.2_Missense_Mutation_p.P131Q	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	162					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)	p.P162H(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GGCATCAAACCCTGTGTGGCAG	0.416																																							uc003eep.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(484-486)CCC>CAA		peptide transporter 2 isoform a	Cefadroxil(DB01140)																																			SO:0001583	missense	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121631924_121631925CC>AA	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	Exception_encountered	3.37:g.121631924_121631925delinsAA	ENSP00000417085:p.Pro162Gln					SLC15A2_uc011bjn.1_Missense_Mutation_p.P131Q	p.P162Q	NM_021082	NP_066568	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	5	638_639	+			162					A8K1A5|B4E2A7	Missense_Mutation	DNP	ENST00000489711.1	37	c.485_486CC>AA	CCDS3007.1																																																																																				0.416	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		13	467	0	0	0	6.4e-05	0	13	467				
MYLK	4638	broad.mit.edu	37	3	123452795	123452795	+	Missense_Mutation	SNP	C	C	A	rs532659627		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:123452795C>A	ENST00000475616.1	-	7	1047	c.1048G>T	c.(1048-1050)Gca>Tca	p.A350S	MYLK_ENST00000360772.3_Missense_Mutation_p.A350S|MYLK_ENST00000359169.1_Missense_Mutation_p.A350S|MYLK_ENST00000346322.5_Missense_Mutation_p.A350S|MYLK_ENST00000360304.3_Missense_Mutation_p.A350S			Q15746	MYLK_HUMAN	myosin light chain kinase	350					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.A350T(1)|p.A350P(1)|p.A350S(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGAACTCTTGCGGCCTGCAGG	0.632																																							uc003ego.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(6)|skin(2)|stomach(1)	9						c.(1048-1050)GCA>TCA		myosin light chain kinase isoform 1							72.0	79.0	76.0					3																	123452795		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123452795C>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1048G>T	3.37:g.123452795C>A	ENSP00000418335:p.Ala350Ser					MYLK_uc011bjw.1_Missense_Mutation_p.A350S|MYLK_uc003egp.2_Missense_Mutation_p.A350S|MYLK_uc003egq.2_Missense_Mutation_p.A350S|MYLK_uc003egr.2_Missense_Mutation_p.A350S|MYLK_uc003egs.2_Missense_Mutation_p.A174S	p.A350S	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	10	1330	-		Lung NSC(201;0.0496)	350					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1048G>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	C	8.805	0.933743	0.18206	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.66099	-0.19;-0.14;-0.19;-0.12;-0.14	5.43	-7.78	0.01223	.	.	.	.	.	T	0.35248	0.0925	L	0.27053	0.805	0.09310	N	0.999999	B;B;B;B;B	0.23377	0.084;0.006;0.084;0.002;0.01	B;B;B;B;B	0.20184	0.017;0.004;0.028;0.004;0.008	T	0.27536	-1.0071	9	0.09843	T	0.71	.	4.3246	0.11034	0.1071:0.2038:0.1012:0.5879	.	350;350;350;350;350	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	S	350	ENSP00000354004:A350S;ENSP00000353452:A350S;ENSP00000352088:A350S;ENSP00000320622:A350S;ENSP00000418335:A350S	ENSP00000320622:A350S	A	-	1	0	MYLK	124935485	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.939000	0.03933	-1.950000	0.01030	-0.844000	0.03045	GCA		0.632	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		39	76	1	0	7.53189e-24	0.000319135	1.90513e-22	39	76				
UMPS	7372	broad.mit.edu	37	3	124449388	124449388	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:124449388G>T	ENST00000232607.2	+	1	176	c.70G>T	c.(70-72)Ggg>Tgg	p.G24W	MIR544B_ENST00000582372.1_RNA|UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000538242.1_5'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	24	OPRTase.				'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)	p.G24W(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	TTTCAAGTTTGGGGACTTCGT	0.592																																							uc003ehl.3		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(70-72)GGG>TGG		uridine monophosphate synthase							97.0	92.0	94.0					3																	124449388		2203	4300	6503	SO:0001583	missense	7372				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity	g.chr3:124449388G>T		CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.70G>T	3.37:g.124449388G>T	ENSP00000232607:p.Gly24Trp					UMPS_uc003ehm.3_RNA|UMPS_uc011bka.1_5'UTR|UMPS_uc011bkb.1_5'UTR|UMPS_uc011bkc.1_5'UTR|UMPS_uc003ehn.3_5'UTR|UMPS_uc011bkd.1_5'UTR|hsa-mir-544b|MI0014159_5'Flank	p.G24W	NM_000373	NP_000364	P11172	UMPS_HUMAN		GBM - Glioblastoma multiforme(114;0.146)	1	176	+			24			OPRTase.		B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	ENST00000232607.2	37	c.70G>T	CCDS3029.1	.	.	.	.	.	.	.	.	.	.	G	33	5.218986	0.95104	.	.	ENSG00000114491	ENST00000232607	T	0.75704	-0.96	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.91529	0.7325	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94364	0.7590	10	0.87932	D	0	-16.9474	16.9976	0.86372	0.0:0.0:1.0:0.0	.	24	P11172	UMPS_HUMAN	W	24	ENSP00000232607:G24W	ENSP00000232607:G24W	G	+	1	0	UMPS	125932078	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.352000	0.90075	2.668000	0.90789	0.563000	0.77884	GGG		0.592	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355271.1	NM_000373		29	64	1	0	2.65835e-16	0.000184323	6.4061e-15	29	64				
HEG1	57493	broad.mit.edu	37	3	124732073	124732073	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:124732073G>C	ENST00000311127.4	-	6	2417	c.2350C>G	c.(2350-2352)Cca>Gca	p.P784A	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	784					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.P784A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TCTTGGTGTGGGGTGCTCTGG	0.463																																							uc003ehs.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2350-2352)CCA>GCA		HEG homolog 1 precursor							170.0	175.0	174.0					3																	124732073		2035	4188	6223	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124732073G>C	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2350C>G	3.37:g.124732073G>C	ENSP00000311502:p.Pro784Ala					HEG1_uc011bke.1_Missense_Mutation_p.P884A	p.P784A	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			6	2418	-			784			Extracellular (Potential).		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.2350C>G	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.986774	0.35036	.	.	ENSG00000173706	ENST00000311127	D	0.89875	-2.58	4.68	1.75	0.24633	.	0.194137	0.24945	U	0.034360	D	0.83326	0.5230	M	0.64997	1.995	0.09310	N	1	P;B	0.36909	0.573;0.437	B;B	0.35182	0.197;0.097	T	0.75042	-0.3457	10	0.56958	D	0.05	.	3.726	0.08474	0.2995:0.0:0.5214:0.1791	.	784;784	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	A	784	ENSP00000311502:P784A	ENSP00000311502:P784A	P	-	1	0	HEG1	126214763	0.001000	0.12720	0.007000	0.13788	0.019000	0.09904	0.018000	0.13422	0.253000	0.21552	-0.367000	0.07326	CCA		0.463	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		5	264	0	0	0	3.59834e-05	0	5	264				
COL6A5	256076	broad.mit.edu	37	3	130095223	130095223	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:130095223C>G	ENST00000432398.2	+	3	705	c.211C>G	c.(211-213)Ctg>Gtg	p.L71V	COL6A5_ENST00000265379.6_Missense_Mutation_p.L71V	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	71	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.L71V(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCGTGTAGCCCTGGCCCAGTA	0.483																																							uc010htj.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(211-213)CTG>GTG		collagen, type XXIX, alpha 1							121.0	100.0	106.0					3																	130095223		692	1591	2283	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130095223C>G	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.211C>G	3.37:g.130095223C>G	ENSP00000390895:p.Leu71Val					COL29A1_uc010hti.1_RNA	p.L71V	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			3	705	+			71			Nonhelical region.|VWFA 1.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.211C>G		.	.	.	.	.	.	.	.	.	.	C	4.796	0.147923	0.09134	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.80393	-1.37;-1.37	5.14	3.21	0.36854	.	.	.	.	.	T	0.72463	0.3463	N	0.25890	0.77	0.28736	N	0.902201	B	0.27286	0.174	B	0.42798	0.398	T	0.60850	-0.7181	9	0.02654	T	1	.	9.6329	0.39789	0.0:0.7772:0.1423:0.0805	.	71	A8TX70-2	.	V	71	ENSP00000390895:L71V;ENSP00000265379:L71V	ENSP00000265379:L71V	L	+	1	2	COL6A5	131577913	0.002000	0.14202	1.000000	0.80357	0.193000	0.23685	-0.057000	0.11768	1.293000	0.44690	0.557000	0.71058	CTG		0.483	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		3	33	0	0	0	0.00024832	0	3	33				
PIK3R4	30849	broad.mit.edu	37	3	130463450	130463450	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:130463450C>A	ENST00000356763.3	-	2	1170	c.613G>T	c.(613-615)Ggt>Tgt	p.G205C		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	205	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|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)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G205C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						AACATCCCACCATCAACAAAA	0.423																																							uc003enj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(613-615)GGT>TGT		phosphoinositide-3-kinase, regulatory subunit 4							93.0	90.0	91.0					3																	130463450		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130463450C>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.613G>T	3.37:g.130463450C>A	ENSP00000349205:p.Gly205Cys						p.G205C	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			2	1194	-			205			Protein kinase.		Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.613G>T	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420288	0.83559	.	.	ENSG00000196455	ENST00000356763	T	0.05925	3.37	5.42	5.42	0.78866	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.22627	0.0546	L	0.58925	1.835	0.80722	D	1	D	0.64830	0.994	D	0.66351	0.943	T	0.00048	-1.2205	10	0.62326	D	0.03	-13.3091	19.578	0.95452	0.0:1.0:0.0:0.0	.	205	Q99570	PI3R4_HUMAN	C	205	ENSP00000349205:G205C	ENSP00000349205:G205C	G	-	1	0	PIK3R4	131946140	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	7.741000	0.84997	2.705000	0.92388	0.462000	0.41574	GGT		0.423	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		20	39	1	0	2.54575e-18	0.000175454	6.24412e-17	20	39				
NEK11	79858	broad.mit.edu	37	3	130828742	130828742	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:130828742G>C	ENST00000510769.1	+	4	685	c.432G>C	c.(430-432)ctG>ctC	p.L144L	NEK11_ENST00000429253.2_Silent_p.L144L|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000356918.4_Silent_p.L144L|AC121332.1_ENST00000390784.1_RNA|NEK11_ENST00000383366.4_Silent_p.L144L|NEK11_ENST00000507910.1_Silent_p.L144L|NEK11_ENST00000511262.1_Silent_p.L144L|NEK11_ENST00000510688.1_Silent_p.L144L|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000508196.1_Silent_p.L144L					NIMA-related kinase 11									p.L144L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AGCTGCTGCTGGGAGTTGACT	0.363																																							uc003eny.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(4)|stomach(1)|central_nervous_system(1)	6						c.(430-432)CTG>CTC		NIMA-related kinase 11 isoform 1							78.0	84.0	82.0					3																	130828742		2203	4299	6502	SO:0001819	synonymous_variant	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130828742G>C	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.432G>C	3.37:g.130828742G>C						NEK11_uc003enx.2_Silent_p.L144L|NEK11_uc003eoa.2_Silent_p.L144L|NEK11_uc003enz.2_5'UTR|NEK11_uc010htn.2_RNA|NEK11_uc011blk.1_5'UTR|NEK11_uc011bll.1_Silent_p.L144L|NEK11_uc003enw.1_Silent_p.L144L|NEK11_uc011blm.1_Silent_p.L144L|NEK11_uc010hto.1_5'UTR	p.L144L	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN			5	758	+			144			Protein kinase.			Silent	SNP	ENST00000510769.1	37	c.432G>C																																																																																					0.363	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		5	142	0	0	0	1.23904e-05	0	5	142				
EPHB1	2047	broad.mit.edu	37	3	134885789	134885789	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:134885789G>C	ENST00000398015.3	+	9	2070	c.1700G>C	c.(1699-1701)cGg>cCg	p.R567P	EPHB1_ENST00000493838.1_Missense_Mutation_p.R128P	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	567					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.R567P(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CACAGGAAACGGGCTTATAGC	0.567																																							uc003eqt.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1699-1701)CGG>CCG		ephrin receptor EphB1 precursor							113.0	120.0	118.0					3																	134885789		1931	4137	6068	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134885789G>C	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1700G>C	3.37:g.134885789G>C	ENSP00000381097:p.Arg567Pro					EPHB1_uc003equ.2_Missense_Mutation_p.R128P	p.R567P	NM_004441	NP_004432	P54762	EPHB1_HUMAN			9	1920	+			567			Cytoplasmic (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1700G>C	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781185	0.70222	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.11169	2.8;2.8	6.08	6.08	0.98989	.	0.061142	0.64402	D	0.000006	T	0.17109	0.0411	M	0.79123	2.44	0.80722	D	1	P	0.45176	0.852	B	0.35039	0.194	T	0.03807	-1.1002	10	0.36615	T	0.2	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	567	P54762	EPHB1_HUMAN	P	567;128	ENSP00000381097:R567P;ENSP00000419574:R128P	ENSP00000381097:R567P	R	+	2	0	EPHB1	136368479	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.199000	0.95003	2.894000	0.99253	0.655000	0.94253	CGG		0.567	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		4	135	0	0	0	3.59834e-05	0	4	135				
PCCB	5096	broad.mit.edu	37	3	135974715	135974715	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:135974715G>T	ENST00000251654.4	+	2	271	c.201G>T	c.(199-201)agG>agT	p.R67S	PCCB_ENST00000466072.1_Missense_Mutation_p.R67S|PCCB_ENST00000482086.1_Intron|PCCB_ENST00000471595.1_Missense_Mutation_p.R67S|PCCB_ENST00000468777.1_Missense_Mutation_p.R67S|PCCB_ENST00000483687.1_Missense_Mutation_p.R67S|PCCB_ENST00000478469.1_Missense_Mutation_p.R67S|PCCB_ENST00000462637.1_Missense_Mutation_p.R67S|PCCB_ENST00000474833.1_Intron|PCCB_ENST00000469217.1_Missense_Mutation_p.R67S|PCCB_ENST00000490504.1_Missense_Mutation_p.R67S	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	67	Carboxyltransferase.		R -> S (in PA-2). {ECO:0000269|PubMed:12559849}.		biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|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)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)	p.R67S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TAACAGCCAGGGAGAGGATCA	0.463																																							uc003eqy.1		NA																	1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM034105	PCCB	M		c.(199-201)AGG>AGT		propionyl Coenzyme A carboxylase, beta	Biotin(DB00121)|L-Valine(DB00161)						158.0	149.0	152.0					3																	135974715		2203	4300	6503	SO:0001583	missense	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:135974715G>T		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.201G>T	3.37:g.135974715G>T	ENSP00000251654:p.Arg67Ser					PCCB_uc003eqz.1_Missense_Mutation_p.R67S|PCCB_uc011bmc.1_Missense_Mutation_p.R67S|PCCB_uc011bmd.1_5'UTR	p.R67S	NM_000532	NP_000523	P05166	PCCB_HUMAN			2	252	+			67		R -> S (in PA-2).	Carboxyltransferase.		B7Z2Z4|Q16813|Q96CX0	Missense_Mutation	SNP	ENST00000251654.4	37	c.201G>T	CCDS3089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.47|17.47	3.397097|3.397097	0.62177|0.62177	.|.	.|.	ENSG00000114054|ENSG00000114054	ENST00000462542|ENST00000251654;ENST00000490504;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000471595;ENST00000469217;ENST00000465423;ENST00000478469	.|D;D;D;D;D;D;D;D;D;D	.|0.99479	.|-5.17;-5.98;-5.17;-5.17;-4.64;-5.17;-5.17;-5.17;-4.64;-5.17	4.61|4.61	3.6|3.6	0.41247|0.41247	.|Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99566|0.99566	0.9844|0.9844	H|H	0.96398|0.96398	3.815|3.815	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.87578	.|0.995;0.998;0.998	D|D	0.99211|0.99211	1.0876|1.0876	5|10	.|0.87932	.|D	.|0	.|.	5.917|5.917	0.19059|0.19059	0.325:0.0:0.675:0.0|0.325:0.0:0.675:0.0	.|.	.|67;67;67	.|B7Z2Z4;E9PDR0;P05166	.|.;.;PCCB_HUMAN	V|S	23|67;67;67;67;67;67;67;67;96;67	.|ENSP00000251654:R67S;ENSP00000418307:R67S;ENSP00000420639:R67S;ENSP00000419129:R67S;ENSP00000420391:R67S;ENSP00000420158:R67S;ENSP00000417549:R67S;ENSP00000419027:R67S;ENSP00000419263:R96S;ENSP00000420759:R67S	.|ENSP00000251654:R67S	G|R	+|+	2|3	0|2	PCCB|PCCB	137457405|137457405	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.888000|0.888000	0.51559|0.51559	1.444000|1.444000	0.35068|0.35068	1.002000|1.002000	0.39104|0.39104	0.462000|0.462000	0.41574|0.41574	GGG|AGG		0.463	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			49	60	1	0	7.05377e-20	0.000147903	1.74883e-18	49	60				
SUCNR1	56670	broad.mit.edu	37	3	151599205	151599205	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:151599205C>A	ENST00000362032.5	+	3	979	c.874C>A	c.(874-876)Cct>Act	p.P292T	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	292						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P292T(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TGTCATCAACCCTGTCTTCTA	0.463																																							uc003ezf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(874-876)CCT>ACT		succinate receptor 1	Succinic acid(DB00139)						134.0	125.0	128.0					3																	151599205		2203	4300	6503	SO:0001583	missense	56670					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:151599205C>A	AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"""GPCR / Class A : Orphans"""	4542	protein-coding gene	gene with protein product		606381	"""G protein-coupled receptor 91"""	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.874C>A	3.37:g.151599205C>A	ENSP00000355156:p.Pro292Thr						p.P292T	NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		3	973	+			292			Helical; Name=7; (Potential).		A8K305|Q8TDQ8	Missense_Mutation	SNP	ENST00000362032.5	37	c.874C>A	CCDS3162.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.074950	0.76415	.	.	ENSG00000198829	ENST00000362032	D	0.98807	-5.15	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	D	0.99408	0.9791	M	0.93197	3.39	0.54753	D	0.999987	D	0.89917	1.0	D	0.97110	1.0	D	0.98732	1.0713	10	0.87932	D	0	.	19.7112	0.96096	0.0:1.0:0.0:0.0	.	292	Q9BXA5	SUCR1_HUMAN	T	292	ENSP00000355156:P292T	ENSP00000355156:P292T	P	+	1	0	SUCNR1	153081895	1.000000	0.71417	1.000000	0.80357	0.461000	0.32589	5.810000	0.69179	2.731000	0.93534	0.650000	0.86243	CCT		0.463	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	NM_033050		43	100	1	0	1.7489e-18	0.000106405	4.29731e-17	43	100				
SI	6476	broad.mit.edu	37	3	164741477	164741477	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:164741477C>A	ENST00000264382.3	-	26	3042	c.2980G>T	c.(2980-2982)Ggt>Tgt	p.G994C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	994	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.G994C(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GCTGTTATACCCATGGATGAA	0.403										HNSCC(35;0.089)																													uc003fei.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2980-2982)GGT>TGT		sucrase-isomaltase	Acarbose(DB00284)						132.0	126.0	128.0					3																	164741477		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164741477C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2980G>T	3.37:g.164741477C>A	ENSP00000264382:p.Gly994Cys	HNSCC(35;0.089)					p.G994C	NM_001041	NP_001032	P14410	SUIS_HUMAN			26	3042	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	994			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2980G>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258350	0.80246	.	.	ENSG00000090402	ENST00000264382	D	0.86865	-2.18	5.53	5.53	0.82687	Glycoside hydrolase-type carbohydrate-binding (1);	0.224664	0.39687	N	0.001288	D	0.96074	0.8721	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.96917	0.9671	10	0.87932	D	0	.	19.2635	0.93977	0.0:1.0:0.0:0.0	.	994	P14410	SUIS_HUMAN	C	994	ENSP00000264382:G994C	ENSP00000264382:G994C	G	-	1	0	SI	166224171	0.996000	0.38824	0.444000	0.26895	0.066000	0.16364	5.528000	0.67129	2.882000	0.98803	0.655000	0.94253	GGT		0.403	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		27	46	1	0	9.04412e-07	9.22233e-05	2.00076e-05	27	46				
KLHL6	89857	broad.mit.edu	37	3	183211960	183211960	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:183211960C>A	ENST00000341319.3	-	5	1292	c.1257G>T	c.(1255-1257)ttG>ttT	p.L419F		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	419					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.L419F(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CCTTGCCACCCAACACCACCA	0.448																																							uc003flr.2		NA																	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(1255-1257)TTG>TTT		kelch-like 6							231.0	213.0	219.0					3																	183211960		2203	4300	6503	SO:0001583	missense	89857							g.chr3:183211960C>A	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1257G>T	3.37:g.183211960C>A	ENSP00000341342:p.Leu419Phe					KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA	p.L419F	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		5	1315	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		419			Kelch 2.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.1257G>T	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943240	0.53079	.	.	ENSG00000172578	ENST00000341319	T	0.79247	-1.25	5.96	3.22	0.36961	Kelch-type beta propeller (1);	0.398599	0.27130	N	0.020789	D	0.84243	0.5429	M	0.80982	2.52	0.34516	D	0.707632	D	0.57257	0.979	D	0.67725	0.953	D	0.85529	0.1208	10	0.56958	D	0.05	.	4.2231	0.10567	0.1319:0.6065:0.1272:0.1344	.	419	Q8WZ60	KLHL6_HUMAN	F	419	ENSP00000341342:L419F	ENSP00000341342:L419F	L	-	3	2	KLHL6	184694654	0.938000	0.31826	0.984000	0.44739	0.535000	0.34838	0.187000	0.16998	0.855000	0.35359	0.655000	0.94253	TTG		0.448	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		9	218	1	0	0.000274275	0.000274275	0.00558288	9	218				
CHRD	8646	broad.mit.edu	37	3	184106428	184106429	+	Missense_Mutation	DNP	CG	CG	AT	rs374891781	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:184106428_184106429CG>AT	ENST00000204604.1	+	21	2854_2855	c.2608_2609CG>AT	c.(2608-2610)CGg>ATg	p.R870M	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.R870M|CHRD_ENST00000545352.1_Missense_Mutation_p.R412M|CHRD_ENST00000348986.3_Missense_Mutation_p.R830M	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	870					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)	p.R870L(1)|p.R870M(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGATGGGCCCCGGGGCTGCCGT	0.634																																							uc003fov.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(2608-2610)CGG>ATG		chordin precursor																																				SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184106428_184106429CG>AT	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	Exception_encountered	3.37:g.184106428_184106429delinsAT	ENSP00000204604:p.Arg870Met					CHRD_uc003fow.2_Missense_Mutation_p.R500M|CHRD_uc003fox.2_Missense_Mutation_p.R870M|CHRD_uc003foy.2_Missense_Mutation_p.R500M|CHRD_uc010hyc.2_Missense_Mutation_p.R460M|CHRD_uc011brr.1_Missense_Mutation_p.R412M	p.R870M	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		21	2854_2855	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		870					O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	DNP	ENST00000204604.1	37	c.2608_2609CG>AT	CCDS3266.1																																																																																				0.634	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		8	87	0	0	0	6.4e-05	0	8	87				
ATP13A5	344905	broad.mit.edu	37	3	192994553	192994553	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:192994553C>A	ENST00000342358.4	-	29	3499	c.3382G>T	c.(3382-3384)Gct>Tct	p.A1128S	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1128						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.A1128S(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACAAAGAAAGCCACACAGAAT	0.353																																							uc011bsq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|large_intestine(2)	11						c.(3382-3384)GCT>TCT		ATPase type 13A5							55.0	54.0	54.0					3																	192994553		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:192994553C>A	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.3382G>T	3.37:g.192994553C>A	ENSP00000341942:p.Ala1128Ser						p.A1128S	NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	29	3382	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		1128			Helical; (Potential).		Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.3382G>T	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	0.056	-1.235896	0.01505	.	.	ENSG00000187527	ENST00000342358	T	0.38240	1.15	5.43	3.61	0.41365	.	0.153416	0.45126	D	0.000388	T	0.13970	0.0338	N	0.04508	-0.205	0.27698	N	0.945894	B	0.16166	0.016	B	0.17722	0.019	T	0.34378	-0.9831	10	0.02654	T	1	-6.8647	9.1043	0.36687	0.2565:0.6691:0.0:0.0745	.	1128	Q4VNC0	AT135_HUMAN	S	1128	ENSP00000341942:A1128S	ENSP00000341942:A1128S	A	-	1	0	ATP13A5	194477247	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	2.408000	0.44574	0.360000	0.24265	-2.067000	0.00394	GCT		0.353	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		14	50	1	0	4.14922e-12	0.000422831	9.67682e-11	14	50				
GP5	2814	broad.mit.edu	37	3	194117476	194117476	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:194117476C>G	ENST00000401815.1	-	1	1607	c.1536G>C	c.(1534-1536)acG>acC	p.T512T	GP5_ENST00000323007.3_Silent_p.T512T			P40197	GPV_HUMAN	glycoprotein V (platelet)	512					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|negative regulation of platelet activation (GO:0010544)|platelet activation (GO:0030168)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T512T(2)		breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GACCTTTGCCCGTGGTCACCG	0.567																																							uc003ftv.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)|breast(1)	3						c.(1534-1536)ACG>ACC		glycoprotein V (platelet) precursor							90.0	104.0	100.0					3																	194117476		2203	4300	6503	SO:0001819	synonymous_variant	2814				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane		g.chr3:194117476C>G	L11238	CCDS3307.1	3q29	2008-02-01			ENSG00000178732	ENSG00000178732		"""CD molecules"""	4443	protein-coding gene	gene with protein product		173511				7690959	Standard	NM_004488		Approved	CD42d	uc003ftv.1	P40197	OTTHUMG00000150345	ENST00000401815.1:c.1536G>C	3.37:g.194117476C>G							p.T512T	NM_004488	NP_004479	P40197	GPV_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)	2	1567	-	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	512			Extracellular (Potential).		D1MER9	Silent	SNP	ENST00000401815.1	37	c.1536G>C	CCDS3307.1																																																																																				0.567	GP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317710.1	NM_004488		4	158	0	0	0	1.23904e-05	0	4	158				
RNF168	165918	broad.mit.edu	37	3	196210747	196210748	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr3:196210747_196210748CC>AA	ENST00000318037.3	-	4	1167_1168	c.573_574GG>TT	c.(571-576)gaGGga>gaTTga	p.191_192EG>D*		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	191					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E191_G192>D*(1)		NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GAGATACTTCCCTCACAGAAAT	0.332																																							uc003fwq.2		NA																	1	Complex - compound substitution(1)		lung(1)		0						c.(571-576)GAGGGA>GATTGA		ring finger protein 168																																				SO:0001587	stop_gained	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196210747_196210748CC>AA	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.573_574delinsAA	3.37:g.196210747_196210748delinsAA	ENSP00000320898:p.E191_G192delinsD*					RNF168_uc010iah.2_Nonsense_Mutation_p.24_25EG>D*	p.191_192EG>D*	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	4	1111_1112	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		191_192					Q8NA67|Q96NS4	Nonsense_Mutation	DNP	ENST00000318037.3	37	c.573_574GG>TT	CCDS3317.1																																																																																				0.332	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		9	231	0	0	0	6.4e-05	0	9	231				
CRIPAK	285464	broad.mit.edu	37	4	1389294	1389294	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:1389294G>T	ENST00000324803.4	+	1	3955	c.995G>T	c.(994-996)tGc>tTc	p.C332F		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	332					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.C332F(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)			GTGCCCGCCTGCTCACACACA	0.672																																							uc003gdf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(994-996)TGC>TTC		cysteine-rich PAK1 inhibitor							181.0	184.0	183.0					4																	1389294		2202	4300	6502	SO:0001583	missense	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.chr4:1389294G>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.995G>T	4.37:g.1389294G>T	ENSP00000323978:p.Cys332Phe						p.C332F	NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3955	+			332			9.		Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	c.995G>T	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	G	5.316	0.243597	0.10077	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	T	0.16743	2.32	0.632	-0.562	0.11781	Post-SET domain (1);	.	.	.	.	T	0.08313	0.0207	N	0.08118	0	0.09310	N	1	D	0.53462	0.96	P	0.44422	0.449	T	0.20207	-1.0282	9	0.56958	D	0.05	.	3.8933	0.09128	0.5781:0.0:0.4219:0.0	.	332	Q8N1N5	CRPAK_HUMAN	F	332;274	ENSP00000323978:C332F	ENSP00000323978:C332F	C	+	2	0	CRIPAK	1379294	0.468000	0.25839	0.001000	0.08648	0.095000	0.18619	0.654000	0.24918	-0.224000	0.09928	0.064000	0.15345	TGC		0.672	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		118	169	1	0	2.51586e-40	0.000147903	6.64458e-39	118	169				
TMEM129	92305	broad.mit.edu	37	4	1719959	1719959	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:1719959C>G	ENST00000382936.3	-	2	1093	c.600G>C	c.(598-600)tcG>tcC	p.S200S	TMEM129_ENST00000536901.1_Silent_p.S200S|TMEM129_ENST00000303277.2_Silent_p.S200S	NM_001127266.1	NP_001120738.1	A0AVI4	TM129_HUMAN	transmembrane protein 129, E3 ubiquitin protein ligase	200					protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)	p.S200S(1)		lung(2)	2			OV - Ovarian serous cystadenocarcinoma(23;0.00765)			TCGAGTCTGGCGAGAGCTCAT	0.607																																							uc003gdn.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(598-600)TCG>TCC		transmembrane protein 129 isoform a							79.0	54.0	63.0					4																	1719959		2202	4299	6501	SO:0001819	synonymous_variant	92305					integral to membrane		g.chr4:1719959C>G	BC009331	CCDS3351.1, CCDS46998.1	4p16.3	2014-07-25	2014-07-25		ENSG00000168936	ENSG00000168936			25137	protein-coding gene	gene with protein product		615975	"""transmembrane protein 129"""			24807418, 25030448	Standard	NM_138385		Approved	D4S2561E	uc003gdn.3	A0AVI4	OTTHUMG00000121150	ENST00000382936.3:c.600G>C	4.37:g.1719959C>G						TMEM129_uc010iby.2_RNA|TMEM129_uc003gdm.2_Silent_p.S200S	p.S200S	NM_001127266	NP_001120738	A0AVI4	TM129_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)		2	1120	-			200			Extracellular (Potential).		A6NH49|A6NI98|D3DVP8	Silent	SNP	ENST00000382936.3	37	c.600G>C	CCDS46998.1																																																																																				0.607	TMEM129-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350724.1	NM_138385		3	7	0	0	0	0.00024832	0	3	7				
HTT	3064	broad.mit.edu	37	4	3134425	3134425	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:3134425G>C	ENST00000355072.5	+	17	2518	c.2373G>C	c.(2371-2373)atG>atC	p.M791I		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	791					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.M791I(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAGATTGGATGGGCACCATTA	0.488																																							uc011bvq.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(2377-2379)ATG>ATC		huntingtin							157.0	153.0	154.0					4																	3134425		1957	4158	6115	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3134425G>C	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2373G>C	4.37:g.3134425G>C	ENSP00000347184:p.Met791Ile						p.M793I	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	18	2524	+		all_epithelial(65;0.18)	791					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.2379G>C	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	G	7.274	0.607674	0.14002	.	.	ENSG00000197386	ENST00000355072	T	0.63255	-0.03	4.91	4.05	0.47172	Armadillo-like helical (1);Armadillo-type fold (1);	0.445404	0.25316	N	0.031556	T	0.31575	0.0801	N	0.04508	-0.205	0.26360	N	0.97706	B	0.02656	0.0	B	0.01281	0.0	T	0.15665	-1.0429	10	0.11794	T	0.64	.	4.8535	0.13549	0.1175:0.0:0.5169:0.3656	.	791	P42858	HD_HUMAN	I	791	ENSP00000347184:M791I	ENSP00000347184:M791I	M	+	3	0	HTT	3104223	1.000000	0.71417	0.976000	0.42696	0.425000	0.31504	2.490000	0.45294	1.163000	0.42636	0.655000	0.94253	ATG		0.488	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		5	143	0	0	0	1.23904e-05	0	5	143				
BOD1L1	259282	broad.mit.edu	37	4	13605302	13605302	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:13605302C>T	ENST00000040738.5	-	10	3357	c.3222G>A	c.(3220-3222)cgG>cgA	p.R1074R		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1074						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R1074R(1)									AGCTTCCTCTCCGATTTTCGC	0.418																																							uc003gmz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(1)	6						c.(3220-3222)CGG>CGA		biorientation of chromosomes in cell division							108.0	103.0	105.0					4																	13605302		2203	4300	6503	SO:0001819	synonymous_variant	259282						DNA binding	g.chr4:13605302C>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3222G>A	4.37:g.13605302C>T						BOD1L_uc010idr.1_Silent_p.R411R	p.R1074R	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	3339	-			1074					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	c.3222G>A	CCDS3411.2																																																																																				0.418	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		27	50	0	0	0	7.16444e-05	0	27	50				
SEL1L3	23231	broad.mit.edu	37	4	25836822	25836823	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:25836822_25836823GG>TT	ENST00000399878.3	-	3	978_979	c.856_857CC>AA	c.(856-858)CCa>AAa	p.P286K	SEL1L3_ENST00000264868.5_Missense_Mutation_p.P251K|SEL1L3_ENST00000502949.1_Missense_Mutation_p.P133K|SEL1L3_ENST00000513364.1_5'UTR	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	286						integral component of membrane (GO:0016021)		p.P286K(1)|p.P133K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCCTTACACTGGGTAATCCATC	0.525																																							uc003gru.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(856-858)CCA>AAA		sel-1 suppressor of lin-12-like 3																																				SO:0001583	missense	23231					integral to membrane	binding	g.chr4:25836822_25836823GG>TT	BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.856_857delinsTT	4.37:g.25836822_25836823delinsTT	ENSP00000382767:p.Pro286Lys						p.P286K	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN			3	1008_1009	-			286					A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	DNP	ENST00000399878.3	37	c.856_857CC>AA	CCDS47037.1																																																																																				0.525	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		9	179	0	0	0	6.4e-05	0	9	179				
WDR19	57728	broad.mit.edu	37	4	39219646	39219646	+	Missense_Mutation	SNP	G	G	C	rs199991653		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:39219646G>C	ENST00000399820.3	+	14	1554	c.1400G>C	c.(1399-1401)cGg>cCg	p.R467P	WDR19_ENST00000506503.1_Missense_Mutation_p.G466R|WDR19_ENST00000288634.7_Missense_Mutation_p.R307P	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	467					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium assembly (GO:0042384)|digestive system development (GO:0055123)|ear morphogenesis (GO:0042471)|embryonic camera-type eye development (GO:0031076)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|intraciliary retrograde transport (GO:0035721)|myotome development (GO:0061055)|neurological system process (GO:0050877)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|photoreceptor connecting cilium (GO:0032391)		p.R467P(2)		large_intestine(1)	1						CGTGAGACTCGGCTTTTCCCA	0.373																																							uc003gtv.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1399-1401)CGG>CCG		WD repeat domain 19							247.0	241.0	243.0					4																	39219646		1915	4128	6043	SO:0001583	missense	57728				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	g.chr4:39219646G>C	AB046858, AY029257	CCDS47042.1	4p14	2014-02-21			ENSG00000157796	ENSG00000157796		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	18340	protein-coding gene	gene with protein product	"""intraflagellar transport 144 homolog (Chlamydomonas)"""	608151				12906858, 22019273	Standard	XM_005262658		Approved	Pwdmp, KIAA1638, FLJ23127, ORF26, DYF-2, Oseg6, IFT144, NPHP13	uc003gtv.3	Q8NEZ3	OTTHUMG00000160466	ENST00000399820.3:c.1400G>C	4.37:g.39219646G>C	ENSP00000382717:p.Arg467Pro					WDR19_uc003gtu.1_Missense_Mutation_p.G466R|WDR19_uc011byi.1_Missense_Mutation_p.R307P|WDR19_uc003gtw.1_Missense_Mutation_p.R64P	p.R467P	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN			14	1554	+			467					B5MEF2|Q8N5B4|Q9H5S0|Q9HCD4	Missense_Mutation	SNP	ENST00000399820.3	37	c.1400G>C	CCDS47042.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.035072|4.035072	0.75617|0.75617	.|.	.|.	ENSG00000157796|ENSG00000157796	ENST00000506503;ENST00000399836|ENST00000399820;ENST00000288634	T|D;D	0.36520|0.95588	1.25|-3.75;-3.75	5.5|5.5	5.5|5.5	0.81552|0.81552	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.051225	.|0.85682	.|D	.|0.000000	D|D	0.95755|0.95755	0.8619|0.8619	M|M	0.68317|0.68317	2.08|2.08	0.48696|0.48696	D|D	0.999691|0.999691	P|P	0.42203|0.46220	0.773|0.874	B|P	0.43360|0.47470	0.417|0.548	D|D	0.94877|0.94877	0.8035|0.8035	9|10	0.28530|0.36615	T|T	0.3|0.2	-13.2319|-13.2319	19.3889|19.3889	0.94570|0.94570	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	466|467	D6R9P6|Q8NEZ3	.|WDR19_HUMAN	R|P	466;465|467;307	ENSP00000423491:G466R|ENSP00000382717:R467P;ENSP00000288634:R307P	ENSP00000382730:G465R|ENSP00000288634:R307P	G|R	+|+	1|2	0|0	WDR19|WDR19	38896041|38896041	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.932000|0.932000	0.56968|0.56968	6.643000|6.643000	0.74334|0.74334	2.600000|2.600000	0.87896|0.87896	0.491000|0.491000	0.48974|0.48974	GGC|CGG		0.373	WDR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360689.1			4	285	0	0	0	0.00024832	0	4	285				
N4BP2	55728	broad.mit.edu	37	4	40104402	40104403	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:40104402_40104403CG>AT	ENST00000261435.6	+	4	1353_1354	c.937_938CG>AT	c.(937-939)CGg>ATg	p.R313M		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	313					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)	p.R313M(1)		breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GAAATCTACTCGGGTCTCTGAT	0.485																																							uc003guy.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|breast(2)|kidney(2)|ovary(1)	8						c.(937-939)CGG>ATG		Nedd4 binding protein 2																																				SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40104402_40104403CG>AT	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	Exception_encountered	4.37:g.40104402_40104403delinsAT	ENSP00000261435:p.Arg313Met					N4BP2_uc010ifq.2_Missense_Mutation_p.R233M|N4BP2_uc010ifr.2_Missense_Mutation_p.R233M	p.R313M	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN			4	1275_1276	+			313					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	DNP	ENST00000261435.6	37	c.937_938CG>AT	CCDS3457.1																																																																																				0.485	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		7	90	0	0	0	6.4e-05	0	7	90				
GUF1	60558	broad.mit.edu	37	4	44693769	44693769	+	Silent	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:44693769G>T	ENST00000281543.5	+	13	1760	c.1566G>T	c.(1564-1566)gtG>gtT	p.V522V	GUF1_ENST00000506793.1_3'UTR|RP11-700J17.1_ENST00000610260.1_RNA	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ATGAAATTGTGGTAGATTTTT	0.313																																							uc003gww.3		NA																	0				upper_aerodigestive_tract(1)	1						c.(1564-1566)GTG>GTT		GUF1 GTPase homolog							97.0	112.0	107.0					4																	44693769		2203	4281	6484	SO:0001819	synonymous_variant	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44693769G>T		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1566G>T	4.37:g.44693769G>T							p.V522V	NM_021927	NP_068746	Q8N442	GUF1_HUMAN			13	1773	+			522						Silent	SNP	ENST00000281543.5	37	c.1566G>T	CCDS3468.1																																																																																				0.313	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927		10	291	1	0	0.000442599	0.000442599	0.00887779	10	291				
HOPX	84525	broad.mit.edu	37	4	57514950	57514950	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:57514950T>A	ENST00000337881.7	-	3	814	c.158A>T	c.(157-159)cAg>cTg	p.Q53L	HOPX_ENST00000381255.3_Missense_Mutation_p.Q53L|HOPX_ENST00000503639.3_Missense_Mutation_p.Q53L|HOPX_ENST00000420433.1_Missense_Mutation_p.Q71L|HOPX_ENST00000508121.1_Missense_Mutation_p.Q71L|HOPX_ENST00000317745.7_Missense_Mutation_p.Q53L|HOPX_ENST00000556614.2_Missense_Mutation_p.Q53L|HOPX_ENST00000555760.2_Missense_Mutation_p.Q53L|HOPX_ENST00000553379.2_Missense_Mutation_p.Q53L|HOPX_ENST00000381260.3_3'UTR|HOPX_ENST00000554144.1_3'UTR|HOPX_ENST00000556376.2_Missense_Mutation_p.Q53L	NM_139212.3	NP_631958.1	Q9BPY8	HOP_HUMAN	HOP homeobox	53					heart development (GO:0007507)|histone deacetylation (GO:0016575)|lung alveolus development (GO:0048286)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of heart contraction (GO:0008016)|regulation of protein binding (GO:0043393)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q53L(1)		large_intestine(2)|lung(5)|skin(1)	8	Glioma(25;0.08)|all_neural(26;0.101)					TGCCAGGCGCTGCTTAAACCA	0.478																																							uc011cad.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(157-159)CAG>CTG		HOP homeobox isoform b							70.0	70.0	70.0					4																	57514950		2203	4300	6503	SO:0001583	missense	84525				negative regulation of cell differentiation|trophectodermal cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:57514950T>A		CCDS3507.1, CCDS47062.1, CCDS54767.1	4q12	2011-06-20			ENSG00000171476	ENSG00000171476		"""Homeoboxes / PRD class"""	24961	protein-coding gene	gene with protein product	"""homeobox only domain"""	607275				12297045	Standard	NM_032495		Approved	LAGY, HOP, OB1, NECC1, SMAP31	uc003hbz.2	Q9BPY8	OTTHUMG00000128768	ENST00000337881.7:c.158A>T	4.37:g.57514950T>A	ENSP00000337330:p.Gln53Leu					HOPX_uc003hcc.2_3'UTR|HOPX_uc003hca.2_Missense_Mutation_p.Q71L|HOPX_uc003hcb.2_Missense_Mutation_p.Q53L|HOPX_uc003hcd.2_RNA|HOPX_uc003hce.2_RNA|HOPX_uc003hbz.2_Missense_Mutation_p.Q53L	p.Q53L	NM_001145459	NP_001138931	Q9BPY8	HOP_HUMAN			3	393	-	Glioma(25;0.08)|all_neural(26;0.101)		53			Homeobox; atypical.		A8K0Z2|E9PB55|G3V294|Q8N0V6|Q96CI1	Missense_Mutation	SNP	ENST00000337881.7	37	c.158A>T	CCDS3507.1	.	.	.	.	.	.	.	.	.	.	T	7.024	0.559221	0.13436	.	.	ENSG00000171476	ENST00000420433;ENST00000508121;ENST00000556376;ENST00000553379;ENST00000381255;ENST00000317745;ENST00000503639;ENST00000337881;ENST00000555760;ENST00000556614;ENST00000514890;ENST00000506661	D;D;D;D;D;D;D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9;-3.9;-3.9;-3.9;-3.9;-3.9;-3.9	5.93	5.93	0.95920	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	.	.	.	.	D	0.91737	0.7387	.	.	.	0.80722	D	1	B;B	0.12630	0.006;0.0	B;B	0.12837	0.008;0.001	D	0.87768	0.2603	8	0.27785	T	0.31	.	12.7654	0.57388	0.0:0.0:0.0:1.0	.	71;53	E9PB55;Q9BPY8	.;HOP_HUMAN	L	71;71;53;53;53;53;53;53;53;53;53;53	ENSP00000396275:Q71L;ENSP00000422175:Q71L;ENSP00000451794:Q53L;ENSP00000452340:Q53L;ENSP00000370654:Q53L;ENSP00000315198:Q53L;ENSP00000424101:Q53L;ENSP00000337330:Q53L;ENSP00000452098:Q53L;ENSP00000452003:Q53L	ENSP00000315198:Q53L	Q	-	2	0	HOPX	57209707	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	4.016000	0.57159	2.273000	0.75805	0.482000	0.46254	CAG		0.478	HOPX-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250689.4			45	46	0	0	0	0.000147903	0	45	46				
CENPC	1060	broad.mit.edu	37	4	68380143	68380143	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:68380143G>C	ENST00000273853.6	-	8	1343	c.1093C>G	c.(1093-1095)Cat>Gat	p.H365D		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	365					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)	p.H365D(1)									TGAGGTTTATGGGAATGTTTG	0.383																																							uc003hdd.1		NA																	1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|lung(1)	2						c.(1093-1095)CAT>GAT		centromere protein C 1							100.0	92.0	94.0					4																	68380143		1855	4096	5951	SO:0001583	missense	1060				mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding	g.chr4:68380143G>C	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.1093C>G	4.37:g.68380143G>C	ENSP00000273853:p.His365Asp					CENPC1_uc010ihj.1_RNA|CENPC1_uc010ihk.1_RNA|CENPC1_uc010ihm.1_Missense_Mutation_p.H365D	p.H365D	NM_001812	NP_001803	Q03188	CENPC_HUMAN			8	1276	-			365					Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	c.1093C>G	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	G	0.214	-1.033862	0.02029	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.52	-0.582	0.11709	.	1.831890	0.02599	N	0.100884	T	0.15522	0.0374	N	0.04880	-0.145	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.21314	-1.0249	9	0.02654	T	1	4.697	5.1777	0.15143	0.1001:0.5469:0.2354:0.1177	.	365;365	Q8IW27;Q03188	.;CENPC_HUMAN	D	365	.	ENSP00000273853:H365D	H	-	1	0	CENPC1	68062738	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.015000	0.03637	-0.267000	0.09325	-0.857000	0.03018	CAT		0.383	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2			5	60	0	0	0	1.23904e-05	0	5	60				
PRKG2	5593	broad.mit.edu	37	4	82125807	82125808	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:82125807_82125808CG>AT	ENST00000395578.1	-	2	510_511	c.394_395CG>AT	c.(394-396)CGg>ATg	p.R132M	PRKG2_ENST00000264399.1_Missense_Mutation_p.R132M|PRKG2_ENST00000418486.2_Missense_Mutation_p.R132M			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	132					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)	p.R132L(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GTCATAGGTCCGGGTTGTTGGC	0.495																																							uc003hmh.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						c.(394-396)CGG>ATG		protein kinase, cGMP-dependent, type II																																				SO:0001583	missense	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82125807_82125808CG>AT	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.394_395delinsAT	4.37:g.82125807_82125808delinsAT	ENSP00000378945:p.Arg132Met					PRKG2_uc011cch.1_Missense_Mutation_p.R132M	p.R132M	NM_006259	NP_006250	Q13237	KGP2_HUMAN			1	408_409	-			132					B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	DNP	ENST00000395578.1	37	c.394_395CG>AT	CCDS3589.1																																																																																				0.495	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		9	471	0	0	0	6.4e-05	0	9	471				
ZGRF1	55345	broad.mit.edu	37	4	113479457	113479457	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:113479457C>A	ENST00000505019.1	-	20	5094	c.4969G>T	c.(4969-4971)Gga>Tga	p.G1657*		NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1657						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.G1657*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTTCCTGCTCCAAACACACCT	0.343																																							uc003iau.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(4969-4971)GGA>TGA		prematurely terminated mRNA decay factor-like							49.0	49.0	49.0					4																	113479457		2203	4300	6503	SO:0001587	stop_gained	55345					integral to membrane	zinc ion binding	g.chr4:113479457C>A																												ENST00000505019.1:c.4969G>T	4.37:g.113479457C>A	ENSP00000424737:p.Gly1657*					C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Nonsense_Mutation_p.G115*	p.G1657*	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	20	5180	-		Ovarian(17;0.156)	479					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Nonsense_Mutation	SNP	ENST00000505019.1	37	c.4969G>T		.	.	.	.	.	.	.	.	.	.	C	38	7.256012	0.98168	.	.	ENSG00000138658	ENST00000505019	.	.	.	5.8	5.8	0.92144	.	0.140177	0.49916	D	0.000139	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.3966	20.1011	0.97876	0.0:1.0:0.0:0.0	.	.	.	.	X	1657	.	ENSP00000404365:G555X	G	-	1	0	C4orf21	113698906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.918000	0.63376	2.754000	0.94517	0.650000	0.86243	GGA		0.343	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			6	64	1	0	2.0095e-06	8.12818e-05	4.41704e-05	6	64				
NDST3	9348	broad.mit.edu	37	4	119059263	119059263	+	Missense_Mutation	SNP	G	G	A	rs150758016	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:119059263G>A	ENST00000296499.5	+	5	1682	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I	NDST3_ENST00000433996.2_Missense_Mutation_p.V346I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	427	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)	p.V427I(3)		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						CCATTCGGGCGTCTACCCTGT	0.468																																							uc003ibx.2		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)	large_intestine(1)	1						c.(1279-1281)GTC>ATC		N-deacetylase/N-sulfotransferase (heparan		G	ILE/VAL	0,4406		0,0,2203	102.0	98.0	100.0		1279	5.4	1.0	4	dbSNP_134	100	2,8598	2.2+/-6.3	0,2,4298	no	missense	NDST3	NM_004784.2	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	427/874	119059263	2,13004	2203	4300	6503	SO:0001583	missense	9348					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:119059263G>A	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.1279G>A	4.37:g.119059263G>A	ENSP00000296499:p.Val427Ile					NDST3_uc011cgf.1_Missense_Mutation_p.V346I	p.V427I	NM_004784	NP_004775	O95803	NDST3_HUMAN			5	1682	+			427			Lumenal (Potential).|Heparan sulfate N-deacetylase 3.		B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	ENST00000296499.5	37	c.1279G>A	CCDS3708.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685475	0.88639	0.0	2.33E-4	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.53857	0.88;0.6	5.39	5.39	0.77823	.	0.114616	0.64402	D	0.000018	T	0.70272	0.3205	M	0.68317	2.08	0.43724	D	0.996204	D;D	0.62365	0.987;0.991	P;P	0.62885	0.826;0.908	T	0.71567	-0.4554	10	0.54805	T	0.06	.	19.1484	0.93477	0.0:0.0:1.0:0.0	.	346;427	B4DI67;O95803	.;NDST3_HUMAN	I	427;346	ENSP00000296499:V427I;ENSP00000396625:V346I	ENSP00000296499:V427I	V	+	1	0	NDST3	119278711	1.000000	0.71417	0.986000	0.45419	0.630000	0.37929	9.778000	0.99011	2.519000	0.84933	0.557000	0.71058	GTC		0.468	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256517.4	NM_004784		31	58	0	0	0	0.000339439	0	31	58				
CCNA2	890	broad.mit.edu	37	4	122742166	122742166	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:122742166C>T	ENST00000274026.5	-	3	841	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_001237.3	NP_001228	P20248	CCNA2_HUMAN	cyclin A2	180					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|organ regeneration (GO:0031100)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|response to estradiol (GO:0032355)|response to glucagon (GO:0033762)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E180K(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						TGAATATCCTCATGGTAGTCT	0.353																																							uc003iec.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(538-540)GAG>AAG		cyclin A							215.0	205.0	208.0					4																	122742166		2203	4298	6501	SO:0001583	missense	890				cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding	g.chr4:122742166C>T		CCDS3723.1	4q27	2012-07-12			ENSG00000145386	ENSG00000145386			1578	protein-coding gene	gene with protein product		123835		CCNA, CCN1		1675006	Standard	NM_001237		Approved		uc003iec.4	P20248	OTTHUMG00000133072	ENST00000274026.5:c.538G>A	4.37:g.122742166C>T	ENSP00000274026:p.Glu180Lys						p.E180K	NM_001237	NP_001228	P20248	CCNA2_HUMAN			3	843	-			180					A8K7B6|Q2M3U6|Q4W5P4|Q6LER8	Missense_Mutation	SNP	ENST00000274026.5	37	c.538G>A	CCDS3723.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496903	0.64186	.	.	ENSG00000145386	ENST00000274026	T	0.17691	2.26	6.08	6.08	0.98989	Cyclin-like (1);	0.227953	0.45126	D	0.000388	T	0.16428	0.0395	L	0.49350	1.555	0.35244	D	0.778056	B	0.13145	0.007	B	0.11329	0.006	T	0.14117	-1.0484	10	0.15952	T	0.53	.	12.4627	0.55741	0.0:0.918:0.0:0.082	.	180	P20248	CCNA2_HUMAN	K	180	ENSP00000274026:E180K	ENSP00000274026:E180K	E	-	1	0	CCNA2	122961616	0.252000	0.23972	0.994000	0.49952	0.992000	0.81027	1.954000	0.40362	2.894000	0.99253	0.591000	0.81541	GAG		0.353	CCNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256712.2	NM_001237		41	108	0	0	0	0.000125731	0	41	108				
KIAA1109	84162	broad.mit.edu	37	4	123167449	123167449	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:123167449C>A	ENST00000264501.4	+	33	5553	c.5180C>A	c.(5179-5181)cCa>cAa	p.P1727Q	KIAA1109_ENST00000455637.1_Missense_Mutation_p.P1727Q|KIAA1109_ENST00000388738.3_Missense_Mutation_p.P1727Q			Q2LD37	K1109_HUMAN	KIAA1109	1727					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P1727Q(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTAGCATACCAAAGGTAACa	0.328																																							uc003ieh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(5179-5181)CCA>CAA		fragile site-associated protein							72.0	70.0	71.0					4																	123167449		1827	4073	5900	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123167449C>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5180C>A	4.37:g.123167449C>A	ENSP00000264501:p.Pro1727Gln					KIAA1109_uc003iek.2_Missense_Mutation_p.P346Q	p.P1727Q	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			31	5225	+			1727					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.5180C>A	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.859748|4.859748	0.91433|0.91433	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180	T;T;T|.	0.51574|.	1.4;1.4;0.7|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.000000|.	0.44483|.	U|.	0.000445|.	T|T	0.59018|0.59018	0.2163|0.2163	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999997|0.999997	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.997|.	T|T	0.50276|0.50276	-0.8847|-0.8847	10|5	0.87932|.	D|.	0|.	.|.	20.4496|20.4496	0.99125|0.99125	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1726;1727|.	Q2LD37-2;Q2LD37|.	.;K1109_HUMAN|.	Q|K	1727|300	ENSP00000264501:P1727Q;ENSP00000373390:P1727Q;ENSP00000389925:P1727Q|.	ENSP00000264501:P1727Q|.	P|Q	+|+	2|1	0|0	KIAA1109|KIAA1109	123386899|123386899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.967000|6.967000	0.76079|0.76079	2.838000|2.838000	0.97847|0.97847	0.563000|0.563000	0.77884|0.77884	CCA|CAA		0.328	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		12	167	1	0	6.40141e-05	6.40141e-05	0.00135931	12	167				
KIAA1109	84162	broad.mit.edu	37	4	123239424	123239424	+	Splice_Site	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:123239424G>C	ENST00000264501.4	+	63	11166	c.10793G>C	c.(10792-10794)cGg>cCg	p.R3598P	KIAA1109_ENST00000455637.1_Splice_Site_p.R3598P|KIAA1109_ENST00000388738.3_Splice_Site_p.R3598P			Q2LD37	K1109_HUMAN	KIAA1109	3598					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R3598P(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCCAGTATGCGGGTGAGTTCT	0.403																																							uc003ieh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(10792-10794)CGG>CCG		fragile site-associated protein							139.0	135.0	136.0					4																	123239424		1855	4090	5945	SO:0001630	splice_region_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123239424G>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10794+1G>C	4.37:g.123239424G>C						KIAA1109_uc003iel.1_Missense_Mutation_p.R1533P	p.R3598P	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			61	10838	+			3598					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.10793G>C	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543437	0.86022	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000438707	T;T;T;T	0.44881	2.01;2.01;1.44;0.91	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000017	T	0.55593	0.1930	L	0.55481	1.735	0.58432	D	0.999992	D;D	0.71674	0.998;0.996	P;P	0.58454	0.839;0.774	T	0.60105	-0.7328	10	0.72032	D	0.01	.	16.0842	0.81025	0.0:0.0:1.0:0.0	.	3598;3598	Q2LD37-6;Q2LD37	.;K1109_HUMAN	P	3598;3598;3598;281	ENSP00000264501:R3598P;ENSP00000373390:R3598P;ENSP00000389925:R3598P;ENSP00000410874:R281P	ENSP00000264501:R3598P	R	+	2	0	KIAA1109	123458874	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.787000	0.99055	2.230000	0.72887	0.650000	0.86243	CGG		0.403	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	Missense_Mutation	4	117	0	0	0	1.23904e-05	0	4	117				
KIAA1109	84162	broad.mit.edu	37	4	123264572	123264572	+	Silent	SNP	G	G	T	rs201174372		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:123264572G>T	ENST00000264501.4	+	73	12733	c.12360G>T	c.(12358-12360)tcG>tcT	p.S4120S	KIAA1109_ENST00000388738.3_Silent_p.S4120S			Q2LD37	K1109_HUMAN	KIAA1109	4120	Ser-rich.				regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S4120S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TAGGTTCATCGGGATTAGGCA	0.433																																							uc003ieh.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(12358-12360)TCG>TCT		fragile site-associated protein							96.0	86.0	89.0					4																	123264572		1922	4138	6060	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123264572G>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12360G>T	4.37:g.123264572G>T						KIAA1109_uc003iem.2_Silent_p.S476S|KIAA1109_uc003ien.2_Silent_p.S54S	p.S4120S	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			71	12405	+			4120			Ser-rich.		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.12360G>T	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.487|6.487	0.458096|0.458096	0.12342|0.12342	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000442707|ENST00000306802	.|.	.|.	.|.	5.88|5.88	-5.71|-5.71	0.02413|0.02413	.|.	.|.	.|.	.|.	.|.	T|T	0.48003|0.48003	0.1476|0.1476	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.51116|0.51116	-0.8746|-0.8746	4|4	.|.	.|.	.|.	.|.	7.1879|7.1879	0.25809|0.25809	0.3368:0.0:0.4148:0.2484|0.3368:0.0:0.4148:0.2484	.|.	.|.	.|.	.|.	W|L	66|496	.|.	.|.	G|R	+|+	1|2	0|0	KIAA1109|KIAA1109	123484022|123484022	0.022000|0.022000	0.18835|0.18835	0.316000|0.316000	0.25252|0.25252	0.210000|0.210000	0.24377|0.24377	-0.498000|-0.498000	0.06420|0.06420	-0.646000|-0.646000	0.05452|0.05452	-1.004000|-1.004000	0.02495|0.02495	GGG|CGG		0.433	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		5	86	1	0	8.12818e-05	8.12818e-05	0.00171015	5	86				
HSPA4L	22824	broad.mit.edu	37	4	128753935	128753935	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:128753935C>A	ENST00000296464.4	+	19	2837	c.2426C>A	c.(2425-2427)cCa>cAa	p.P809Q	HSPA4L_ENST00000505726.1_Missense_Mutation_p.P783Q|HSPA4L_ENST00000508776.1_Missense_Mutation_p.P809Q|HSPA4L_ENST00000439123.2_Missense_Mutation_p.P840Q	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	809					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.P809Q(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CACAATGGCCCAATGGATGGA	0.403																																							uc003ifm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2425-2427)CCA>CAA		heat shock 70kDa protein 4-like							114.0	105.0	108.0					4																	128753935		2203	4300	6503	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128753935C>A	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.2426C>A	4.37:g.128753935C>A	ENSP00000296464:p.Pro809Gln					HSPA4L_uc011cgr.1_Missense_Mutation_p.P776Q	p.P809Q	NM_014278	NP_055093	O95757	HS74L_HUMAN			19	2679	+			809					A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.2426C>A	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	C	8.970	0.972781	0.18736	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000505726	T;T;T;T	0.01422	5.06;5.05;5.06;4.91	5.03	4.18	0.49190	.	0.057268	0.64402	N	0.000001	T	0.05318	0.0141	L	0.48174	1.505	0.54753	D	0.999988	D;B	0.89917	1.0;0.11	D;B	0.91635	0.999;0.016	T	0.56798	-0.7919	10	0.27785	T	0.31	.	14.8919	0.70614	0.1445:0.8555:0.0:0.0	.	783;809	E9PDE8;O95757	.;HS74L_HUMAN	Q	809;840;809;783	ENSP00000422482:P809Q;ENSP00000393926:P840Q;ENSP00000296464:P809Q;ENSP00000425645:P783Q	ENSP00000296464:P809Q	P	+	2	0	HSPA4L	128973385	1.000000	0.71417	0.999000	0.59377	0.076000	0.17211	5.308000	0.65768	1.328000	0.45358	0.650000	0.86243	CCA		0.403	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		8	113	1	0	0.000157383	0.000157383	0.00327129	8	113				
SCLT1	132320	broad.mit.edu	37	4	129886409	129886409	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:129886409T>G	ENST00000281142.5	-	11	1345	c.842A>C	c.(841-843)cAg>cCg	p.Q281P	SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	281					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)	p.Q281P(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TATACTAGACTGTAACTGCTG	0.343																																							uc003igp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(841-843)CAG>CCG		sodium channel associated protein 1							99.0	103.0	101.0					4																	129886409		2203	4300	6503	SO:0001583	missense	132320					centrosome		g.chr4:129886409T>G	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.842A>C	4.37:g.129886409T>G	ENSP00000281142:p.Gln281Pro					SCLT1_uc003ign.2_Intron|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	p.Q281P	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN			11	1348	-			281			Potential.		A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	ENST00000281142.5	37	c.842A>C	CCDS3740.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.862481	0.71949	.	.	ENSG00000151466	ENST00000281142	T	0.10573	2.86	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.31702	0.0805	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.01121	-1.1445	9	.	.	.	-14.4391	15.7933	0.78384	0.0:0.0:0.0:1.0	.	281	Q96NL6	SCLT1_HUMAN	P	281	ENSP00000281142:Q281P	.	Q	-	2	0	SCLT1	130105859	1.000000	0.71417	0.983000	0.44433	0.738000	0.42128	5.756000	0.68757	2.194000	0.70268	0.533000	0.62120	CAG		0.343	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		22	81	0	0	0	9.22233e-05	0	22	81				
TBC1D9	23158	broad.mit.edu	37	4	141543675	141543675	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:141543675C>G	ENST00000442267.2	-	21	3549	c.3475G>C	c.(3475-3477)Gac>Cac	p.D1159H		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1159							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.D1159H(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATGGAGCTGTCGTCCTTGGTG	0.622																																							uc010ioj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3475-3477)GAC>CAC		TBC1 domain family, member 9 (with GRAM domain)							74.0	81.0	79.0					4																	141543675		2119	4230	6349	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543675C>G	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3475G>C	4.37:g.141543675C>G	ENSP00000411197:p.Asp1159His						p.D1159H	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			21	3747	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1159					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3475G>C	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498345	0.85069	.	.	ENSG00000109436	ENST00000442267	T	0.59083	0.29	5.01	5.01	0.66863	.	.	.	.	.	T	0.76421	0.3985	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.79778	-0.1660	9	0.72032	D	0.01	.	18.3423	0.90309	0.0:1.0:0.0:0.0	.	1159	Q6ZT07	TBCD9_HUMAN	H	1159	ENSP00000411197:D1159H	ENSP00000411197:D1159H	D	-	1	0	TBC1D9	141763125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.757000	0.68766	2.319000	0.78375	0.655000	0.94253	GAC		0.622	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		36	49	0	0	0	0.000270559	0	36	49				
USP38	84640	broad.mit.edu	37	4	144135082	144135082	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:144135082C>G	ENST00000307017.4	+	9	2459	c.1953C>G	c.(1951-1953)ccC>ccG	p.P651P	USP38_ENST00000510377.1_Silent_p.P651P	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	651	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CCTCTGTACCCGGTCCTTCAG	0.438																																							uc003ijb.2		NA																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(1951-1953)CCC>CCG		ubiquitin specific peptidase 38							171.0	189.0	183.0					4																	144135082		2203	4299	6502	SO:0001819	synonymous_variant	84640				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr4:144135082C>G	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.1953C>G	4.37:g.144135082C>G						USP38_uc003ija.3_Silent_p.P651P|USP38_uc003ijc.2_RNA	p.P651P	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN			9	2487	+	all_hematologic(180;0.158)		651					B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Silent	SNP	ENST00000307017.4	37	c.1953C>G	CCDS3758.1																																																																																				0.438	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557		7	261	0	0	0	0.000274275	0	7	261				
ANAPC10	10393	broad.mit.edu	37	4	145916629	145916629	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:145916629G>C	ENST00000507656.1	-	5	547	c.454C>G	c.(454-456)Cat>Gat	p.H152D	ANAPC10_ENST00000451299.2_Missense_Mutation_p.H152D|ANAPC10_ENST00000309439.5_Missense_Mutation_p.H152D|ANAPC10_ENST00000510270.1_5'UTR	NM_001256706.1	NP_001243635.1	Q9UM13	APC10_HUMAN	anaphase promoting complex subunit 10	152	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.H152D(1)		endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(180;0.151)					TGTCTCATATGGGTGTCTCTT	0.368																																							uc003iju.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(454-456)CAT>GAT		anaphase promoting complex subunit 10							173.0	169.0	171.0					4																	145916629		1837	4091	5928	SO:0001583	missense	10393				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin-protein ligase activity	g.chr4:145916629G>C	AF132794	CCDS43273.1	4q31	2011-06-15			ENSG00000164162	ENSG00000164162		"""Anaphase promoting complex subunits"""	24077	protein-coding gene	gene with protein product		613745				10318877, 11230166	Standard	NM_001256706		Approved	APC10, DOC1, DKFZP564L0562	uc031shk.1	Q9UM13	OTTHUMG00000161477	ENST00000507656.1:c.454C>G	4.37:g.145916629G>C	ENSP00000423995:p.His152Asp					ANAPC10_uc003ijv.3_Missense_Mutation_p.H152D|ANAPC10_uc003ijw.3_Missense_Mutation_p.H152D	p.H152D	NM_014885	NP_055700	Q9UM13	APC10_HUMAN			6	609	-	all_hematologic(180;0.151)		152			DOC.		D3DNZ7|Q2V500|Q9UG51|Q9Y5R0	Missense_Mutation	SNP	ENST00000507656.1	37	c.454C>G	CCDS43273.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.877807	0.91664	.	.	ENSG00000164162	ENST00000507656;ENST00000309439;ENST00000451299;ENST00000514390;ENST00000513054	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.96	5.96	0.96718	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.80076	0.4557	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84934	0.0861	10	0.87932	D	0	-12.6193	20.394	0.98981	0.0:0.0:1.0:0.0	.	152	Q9UM13	APC10_HUMAN	D	152	ENSP00000423995:H152D;ENSP00000310071:H152D;ENSP00000403891:H152D;ENSP00000423043:H152D;ENSP00000421609:H152D	ENSP00000310071:H152D	H	-	1	0	ANAPC10	146136079	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.677000	0.98645	2.830000	0.97506	0.585000	0.79938	CAT		0.368	ANAPC10-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365090.1	NM_014885		5	216	0	0	0	3.59834e-05	0	5	216				
ABCE1	6059	broad.mit.edu	37	4	146044398	146044398	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:146044398G>C	ENST00000296577.4	+	15	1921	c.1406G>C	c.(1405-1407)cGa>cCa	p.R469P	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_3'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	469	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)	p.R469P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GAACTACAGCGAGTAGCTTTA	0.378																																							uc003ijx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1405-1407)CGA>CCA		ATP-binding cassette, sub-family E, member 1							79.0	79.0	79.0					4																	146044398		2203	4300	6503	SO:0001583	missense	6059				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	g.chr4:146044398G>C	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1406G>C	4.37:g.146044398G>C	ENSP00000296577:p.Arg469Pro					ABCE1_uc003ijy.2_Missense_Mutation_p.R469P|ABCE1_uc010iot.2_RNA	p.R469P	NM_001040876	NP_001035809	P61221	ABCE1_HUMAN			15	1846	+	all_hematologic(180;0.151)		469			ABC transporter 2.		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	c.1406G>C	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056401	0.93793	.	.	ENSG00000164163	ENST00000296577	D	0.89810	-2.57	5.69	5.69	0.88448	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97040	0.9033	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97860	1.0280	10	0.87932	D	0	-37.6925	20.181	0.98201	0.0:0.0:1.0:0.0	.	469	P61221	ABCE1_HUMAN	P	469	ENSP00000296577:R469P	ENSP00000296577:R469P	R	+	2	0	ABCE1	146263848	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	9.869000	0.99810	2.840000	0.97914	0.655000	0.94253	CGA		0.378	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		4	99	0	0	0	1.23904e-05	0	4	99				
DCHS2	54798	broad.mit.edu	37	4	155241831	155241831	+	Missense_Mutation	SNP	G	G	C	rs139445399		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:155241831G>C	ENST00000357232.4	-	14	3354	c.3355C>G	c.(3355-3357)Cgt>Ggt	p.R1119G		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1119	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGTCAAGACGGGACACAGTG	0.463																																							uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(3355-3357)CGT>GGT		dachsous 2 isoform 1							304.0	319.0	314.0					4																	155241831		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155241831G>C	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3355C>G	4.37:g.155241831G>C	ENSP00000349768:p.Arg1119Gly						p.R1119G	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	14	3355	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1119			Cadherin 9.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.3355C>G	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732548	0.30684	.	.	ENSG00000197410	ENST00000357232	T	0.53640	0.61	5.59	2.86	0.33363	Cadherin (4);Cadherin-like (1);	0.647324	0.14962	N	0.288290	T	0.23727	0.0574	N	0.03115	-0.41	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03278	-1.1053	10	0.27785	T	0.31	.	10.4623	0.44587	0.0703:0.4143:0.5154:0.0	.	1119	Q6V1P9	PCD23_HUMAN	G	1119	ENSP00000349768:R1119G	ENSP00000349768:R1119G	R	-	1	0	DCHS2	155461281	0.950000	0.32346	0.776000	0.31678	0.704000	0.40688	1.471000	0.35365	0.274000	0.22072	0.563000	0.77884	CGT		0.463	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		6	255	0	0	0	8.12818e-05	0	6	255				
PLRG1	5356	broad.mit.edu	37	4	155468953	155468953	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:155468953G>T	ENST00000499023.2	-	3	295	c.169C>A	c.(169-171)Cat>Aat	p.H57N	PLRG1_ENST00000393905.2_Missense_Mutation_p.H57N|PLRG1_ENST00000302078.5_Missense_Mutation_p.H57N	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	57					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.H57N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				GTAGGCATATGCAACACAGGA	0.348																																							uc003iny.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(169-171)CAT>AAT		pleiotropic regulator 1 (PRL1 homolog,							111.0	104.0	106.0					4																	155468953		2203	4300	6503	SO:0001583	missense	5356					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	g.chr4:155468953G>T	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.169C>A	4.37:g.155468953G>T	ENSP00000424417:p.His57Asn					PLRG1_uc003inz.2_Missense_Mutation_p.H57N|PLRG1_uc011cil.1_5'UTR	p.H57N	NM_002669	NP_002660	O43660	PLRG1_HUMAN			3	232	-	all_hematologic(180;0.215)	Renal(120;0.0854)	57					B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	ENST00000499023.2	37	c.169C>A	CCDS34083.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559789	0.45590	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078;ENST00000504341	T;T;T	0.61158	0.13;0.13;0.17	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	L	0.43152	1.355	0.80722	D	1	B;B	0.12013	0.005;0.003	B;B	0.12156	0.007;0.002	T	0.42531	-0.9446	10	0.25106	T	0.35	-18.8437	20.422	0.99049	0.0:0.0:1.0:0.0	.	57;57	O43660-2;O43660	.;PLRG1_HUMAN	N	57;57;57;55	ENSP00000424417:H57N;ENSP00000377483:H57N;ENSP00000303191:H57N	ENSP00000303191:H57N	H	-	1	0	PLRG1	155688403	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.720000	0.91442	2.832000	0.97577	0.655000	0.94253	CAT		0.348	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669		25	52	1	0	8.24728e-16	9.22233e-05	1.97705e-14	25	52				
GUCY1B3	2983	broad.mit.edu	37	4	156715060	156715060	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:156715060A>T	ENST00000264424.8	+	6	630	c.548A>T	c.(547-549)gAa>gTa	p.E183V	GUCY1B3_ENST00000505154.1_Missense_Mutation_p.E115V|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.E205V|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.E183V|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.E115V|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.E163V|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.E115V	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	183					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.E183V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TTAATTGAAGAAAAAGAGTCA	0.343																																							uc003ipc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(547-549)GAA>GTA		guanylate cyclase 1, soluble, beta 3							53.0	54.0	54.0					4																	156715060		1828	4074	5902	SO:0001583	missense	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156715060A>T	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.548A>T	4.37:g.156715060A>T	ENSP00000264424:p.Glu183Val					GUCY1B3_uc011cio.1_Missense_Mutation_p.E205V|GUCY1B3_uc011cip.1_Missense_Mutation_p.E163V|GUCY1B3_uc003ipd.2_Missense_Mutation_p.E111V|GUCY1B3_uc010iqf.2_Missense_Mutation_p.E183V|GUCY1B3_uc010iqg.2_Missense_Mutation_p.E111V|GUCY1B3_uc011ciq.1_Missense_Mutation_p.E111V	p.E183V	NM_000857	NP_000848	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	6	715	+	all_hematologic(180;0.24)	Renal(120;0.0854)	183					B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	c.548A>T	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.734126	0.89482	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	6.03	6.03	0.97812	NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.48502	0.1503	M	0.79693	2.465	0.80722	D	1	P;B;B;P;B	0.44690	0.572;0.43;0.23;0.841;0.251	B;B;B;B;B	0.40825	0.076;0.122;0.053;0.341;0.084	T	0.50783	-0.8787	10	0.25106	T	0.35	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	163;205;115;183;183	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	V	115;205;163;115;183;183;115	ENSP00000427226:E115V;ENSP00000426786:E205V;ENSP00000426319:E163V;ENSP00000422313:E115V;ENSP00000264424:E183V;ENSP00000420842:E183V;ENSP00000425065:E115V	ENSP00000264424:E183V	E	+	2	0	GUCY1B3	156934510	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.308000	0.77769	0.533000	0.62120	GAA		0.343	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2			47	91	0	0	0	0.000147903	0	47	91				
SH3RF1	57630	broad.mit.edu	37	4	170190190	170190190	+	Silent	SNP	C	C	G	rs141769951		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:170190190C>G	ENST00000284637.9	-	2	515	c.174G>C	c.(172-174)tcG>tcC	p.S58S	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	58					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S58S(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CCTCGACACCCGAGCCAACAA	0.537																																							uc003isa.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)|lung(1)	3						c.(172-174)TCG>TCC		SH3 domain containing ring finger 1							80.0	68.0	72.0					4																	170190190		2203	4300	6503	SO:0001819	synonymous_variant	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170190190C>G	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.174G>C	4.37:g.170190190C>G							p.S58S	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	2	509	-		Prostate(90;0.00267)|Renal(120;0.0183)	58					Q05BT2|Q8IW46|Q9HAM2|Q9P234	Silent	SNP	ENST00000284637.9	37	c.174G>C	CCDS34099.1																																																																																				0.537	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		3	50	0	0	0	6.4e-05	0	3	50				
GALNT7	51809	broad.mit.edu	37	4	174223255	174223255	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:174223255G>T	ENST00000265000.4	+	7	1289	c.1206G>T	c.(1204-1206)ttG>ttT	p.L402F		NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	402	Catalytic subdomain B.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L402F(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		TCTTTGAATTGGGTCTCTATG	0.418																																							uc003isz.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1204-1206)TTG>TTT		polypeptide N-acetylgalactosaminyltransferase 7							207.0	214.0	211.0					4																	174223255		2203	4300	6503	SO:0001583	missense	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174223255G>T	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1206G>T	4.37:g.174223255G>T	ENSP00000265000:p.Leu402Phe					GALNT7_uc011ckb.1_Missense_Mutation_p.L179F	p.L402F	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	7	1289	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	402			Catalytic subdomain B.|Lumenal (Potential).		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	c.1206G>T	CCDS3815.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.132641|4.132641	0.77662|0.77662	.|.	.|.	ENSG00000109586|ENSG00000109586	ENST00000265000;ENST00000458613|ENST00000505308	D|.	0.83591|.	-1.74|.	5.97|5.97	5.13|5.13	0.70059|0.70059	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85927|0.85927	0.5811|0.5811	H|H	0.96239|0.96239	3.79|3.79	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.78314|.	0.973;0.991|.	D|D	0.89090|0.89090	0.3482|0.3482	10|5	0.87932|.	D|.	0|.	.|.	11.0168|11.0168	0.47693|0.47693	0.1408:0.0:0.8592:0.0|0.1408:0.0:0.8592:0.0	.|.	179;402|.	B4DIB4;Q86SF2|.	.;GALT7_HUMAN|.	F|L	402;179|199	ENSP00000265000:L402F|.	ENSP00000265000:L402F|.	L|W	+|+	3|2	2|0	GALNT7|GALNT7	174459830|174459830	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.876000|2.876000	0.48498|0.48498	1.532000|1.532000	0.49169|0.49169	0.655000|0.655000	0.94253|0.94253	TTG|TGG		0.418	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423		11	215	1	0	0.000308642	0.000308642	0.00625466	11	215				
F11	2160	broad.mit.edu	37	4	187209638	187209638	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:187209638A>T	ENST00000403665.2	+	15	2100	c.1748A>T	c.(1747-1749)cAc>cTc	p.H583L	F11_ENST00000264692.4_Missense_Mutation_p.H531L|F11-AS1_ENST00000505103.1_RNA	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	583	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.H583L(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TCCTGCAAACACAATGAGGTC	0.557																																							uc003iza.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1747-1749)CAC>CTC		coagulation factor XI precursor	Coagulation Factor IX(DB00100)						167.0	161.0	163.0					4																	187209638		2203	4300	6503	SO:0001583	missense	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187209638A>T	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1748A>T	4.37:g.187209638A>T	ENSP00000384957:p.His583Leu					uc003izb.1_RNA	p.H583L	NM_000128	NP_000119	P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	15	2081	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	583			Peptidase S1.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.1748A>T	CCDS3847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.93|12.93	2.085818|2.085818	0.36758|0.36758	.|.	.|.	ENSG00000088926|ENSG00000088926	ENST00000403665;ENST00000264692|ENST00000264691	D;D|.	0.88354|.	-2.37;-2.37|.	5.05|5.05	5.05|5.05	0.67936|0.67936	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.432432|.	0.24573|.	N|.	0.037364|.	T|T	0.21307|0.21307	0.0513|0.0513	N|N	0.10685|0.10685	0.025|0.025	0.24145|0.24145	N|N	0.995716|0.995716	B|.	0.33198|.	0.401|.	B|.	0.35240|.	0.198|.	T|T	0.16335|0.16335	-1.0406|-1.0406	10|5	0.59425|.	D|.	0.04|.	.|.	10.5361|10.5361	0.45004|0.45004	0.8558:0.0:0.0:0.1442|0.8558:0.0:0.0:0.1442	.|.	583|.	P03951|.	FA11_HUMAN|.	L|S	583;531|117	ENSP00000384957:H583L;ENSP00000264692:H531L|.	ENSP00000264692:H531L|.	H|T	+|+	2|1	0|0	F11|F11	187446632|187446632	0.008000|0.008000	0.16893|0.16893	0.999000|0.999000	0.59377|0.59377	0.482000|0.482000	0.33219|0.33219	2.597000|2.597000	0.46214|0.46214	2.254000|2.254000	0.74563|0.74563	0.449000|0.449000	0.29647|0.29647	CAC|ACA		0.557	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			70	115	0	0	0	0.000147903	0	70	115				
FAT1	2195	broad.mit.edu	37	4	187630249	187630249	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:187630249C>T	ENST00000441802.2	-	2	942	c.733G>A	c.(733-735)Gtg>Atg	p.V245M		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	245	Cadherin 2. {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.V245M(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						TCGATGTGCACCGTTAGCTTG	0.512										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.(733-735)GTG>ATG		FAT tumor suppressor 1 precursor							145.0	144.0	144.0					4																	187630249		2180	4287	6467	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.chr4:187630249C>T	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.733G>A	4.37:g.187630249C>T	ENSP00000406229:p.Val245Met	HNSCC(5;0.00058)				FAT1_uc010iso.1_Missense_Mutation_p.V245M	p.V245M	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	921	-			245			Extracellular (Potential).|Cadherin 2.			Missense_Mutation	SNP	ENST00000441802.2	37	c.733G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.049985	0.36181	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	T;T	0.62232	0.04;0.04	5.3	5.3	0.74995	Cadherin (4);Cadherin-like (1);	0.058439	0.64402	D	0.000002	T	0.80839	0.4700	M	0.88775	2.98	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	D	0.83712	0.0188	10	0.87932	D	0	.	12.4674	0.55766	0.0:0.9239:0.0:0.0761	.	245	Q14517	FAT1_HUMAN	M	245	ENSP00000406229:V245M;ENSP00000423736:V245M	ENSP00000260147:V245M	V	-	1	0	FAT1	187867243	0.981000	0.34729	0.316000	0.25252	0.013000	0.08279	2.624000	0.46444	2.762000	0.94881	0.591000	0.81541	GTG		0.512	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		54	84	0	0	0	0.000147903	0	54	84				
TRIML2	205860	broad.mit.edu	37	4	189012726	189012726	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr4:189012726A>T	ENST00000512729.1	-	7	1339	c.965T>A	c.(964-966)gTt>gAt	p.V322D	TRIML2_ENST00000326754.3_Missense_Mutation_p.V347D	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	322	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.V322D(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)		GTCAAGGAAAACGCCAACTGT	0.527																																							uc003izl.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(964-966)GTT>GAT		tripartite motif family-like 2							143.0	159.0	154.0					4																	189012726		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189012726A>T	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.965T>A	4.37:g.189012726A>T	ENSP00000422581:p.Val322Asp					TRIML2_uc003izj.1_Missense_Mutation_p.V150D|TRIML2_uc003izk.1_Missense_Mutation_p.V130D|TRIML2_uc011cle.1_Missense_Mutation_p.V397D	p.V322D	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	1001	-		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)	322			B30.2/SPRY.		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.965T>A	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.869071	0.51588	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.74842	-0.88;-0.88	5.85	4.59	0.56863	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.468026	0.18181	N	0.149125	D	0.88544	0.6465	H	0.96365	3.81	0.80722	D	1	D;D	0.55800	0.973;0.973	P;P	0.62089	0.898;0.84	D	0.90577	0.4526	10	0.87932	D	0	.	10.4004	0.44227	0.8536:0.0:0.0:0.1464	.	347;322	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	D	322;347	ENSP00000422581:V322D;ENSP00000317498:V347D	ENSP00000317498:V347D	V	-	2	0	TRIML2	189249720	0.982000	0.34865	0.973000	0.42090	0.015000	0.08874	7.219000	0.78000	2.371000	0.80710	0.533000	0.62120	GTT		0.527	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		68	140	0	0	0	0.000147903	0	68	140				
CEP72	55722	broad.mit.edu	37	5	640629	640629	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:640629C>G	ENST00000264935.5	+	9	1539	c.1449C>G	c.(1447-1449)tcC>tcG	p.S483S	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	483					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)		p.S483S(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AGAGTAAGTCCCTGCAAAGCC	0.597																																							uc003jbf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1447-1449)TCC>TCG		centrosomal protein 72 kDa							96.0	89.0	91.0					5																	640629		2203	4300	6503	SO:0001819	synonymous_variant	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:640629C>G	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1449C>G	5.37:g.640629C>G							p.S483S	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		9	1521	+			483			Potential.		B4DR26|Q9BV03|Q9BWM3|Q9NVR4	Silent	SNP	ENST00000264935.5	37	c.1449C>G	CCDS34126.1																																																																																				0.597	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		5	141	0	0	0	3.59834e-05	0	5	141				
ICE1	23379	broad.mit.edu	37	5	5464767	5464767	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:5464767C>T	ENST00000296564.7	+	13	5542	c.5320C>T	c.(5320-5322)Caa>Taa	p.Q1774*		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1774					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.Q1774*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGGGAATATTCAACTCACACG	0.493																																							uc003jdm.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(5320-5322)CAA>TAA		hypothetical protein LOC23379							36.0	36.0	36.0					5																	5464767		1904	4119	6023	SO:0001587	stop_gained	23379							g.chr5:5464767C>T																												ENST00000296564.7:c.5320C>T	5.37:g.5464767C>T	ENSP00000296564:p.Gln1774*						p.Q1774*	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	5542	+			1774					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Nonsense_Mutation	SNP	ENST00000296564.7	37	c.5320C>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	C	46	12.290018	0.99654	.	.	ENSG00000164151	ENST00000296564	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.3084	16.5365	0.84373	0.0:1.0:0.0:0.0	.	.	.	.	X	1774	.	ENSP00000296564:Q1774X	Q	+	1	0	KIAA0947	5517767	1.000000	0.71417	0.616000	0.29078	0.593000	0.36681	3.435000	0.52849	2.496000	0.84212	0.467000	0.42956	CAA		0.493	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			13	22	0	0	0	0.00010058	0	13	22				
NSUN2	54888	broad.mit.edu	37	5	6602608	6602609	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:6602608_6602609CC>AA	ENST00000264670.6	-	18	2273_2274	c.1962_1963GG>TT	c.(1960-1965)aaGGga>aaTTga	p.654_655KG>N*	NSUN2_ENST00000539938.1_Nonsense_Mutation_p.418_419KG>N*|NSUN2_ENST00000506139.1_Nonsense_Mutation_p.619_620KG>N*	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	654					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)	p.K654_G655>N*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ACGATGCTTCCCTTTGCTGGAA	0.475																																							uc003jdu.2		NA																	1	Complex - compound substitution(1)		lung(1)	ovary(1)	1						c.(1960-1965)AAGGGA>AATTGA		NOL1/NOP2/Sun domain family, member 2																																				SO:0001587	stop_gained	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6602608_6602609CC>AA	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1962_1963delinsAA	5.37:g.6602608_6602609delinsAA	ENSP00000264670:p.K654_G655delinsN*					NSUN2_uc003jds.2_Nonsense_Mutation_p.100_101KG>N*|NSUN2_uc003jdt.2_Nonsense_Mutation_p.418_419KG>N*|NSUN2_uc011cmk.1_Nonsense_Mutation_p.619_620KG>N*|NSUN2_uc003jdv.2_Nonsense_Mutation_p.418_419KG>N*	p.654_655KG>N*	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			18	2027_2028	-			654_655					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Nonsense_Mutation	DNP	ENST00000264670.6	37	c.1962_1963GG>TT	CCDS3869.1																																																																																				0.475	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755		11	451	0	0	0	6.4e-05	0	11	451				
ZNF622	90441	broad.mit.edu	37	5	16463331	16463332	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:16463331_16463332CC>AA	ENST00000308683.2	-	3	1060_1061	c.934_935GG>TT	c.(934-936)GGg>TTg	p.G312L		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	312					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GAAGGACTTCCCTTTCTCGTTG	0.401																																							uc003jfq.2		NA																	0				ovary(1)	1						c.(934-936)GGG>TTG		zinc finger protein 622																																				SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16463331_16463332CC>AA	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.934_935delinsAA	5.37:g.16463331_16463332delinsAA	ENSP00000310042:p.Gly312Leu						p.G312L	NM_033414	NP_219482	Q969S3	ZN622_HUMAN			3	1054_1055	-			312						Missense_Mutation	DNP	ENST00000308683.2	37	c.934_935GG>TT	CCDS3886.1																																																																																				0.401	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414		17	617	0	0	0	6.4e-05	0	17	617				
C5orf22	55322	broad.mit.edu	37	5	31545771	31545772	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:31545771_31545772CC>AA	ENST00000325366.9	+	7	1138_1139	c.1011_1012CC>AA	c.(1009-1014)ccCCtt>ccAAtt	p.L338I	C5orf22_ENST00000355907.3_De_novo_Start_OutOfFrame	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	338								p.L338F(1)|p.L338I(1)		kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CACTAGTTCCCCTTGTACAGAG	0.312																																							uc003jhj.3		NA																	2	Substitution - Missense(2)	p.L338F(1)	ovary(1)|lung(1)	ovary(2)	2						c.(1009-1014)CCCCTT>CCAATT		hypothetical protein LOC55322																																				SO:0001583	missense	55322							g.chr5:31545771_31545772CC>AA	AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	Exception_encountered	5.37:g.31545771_31545772delinsAA	ENSP00000326879:p.Leu338Ile					C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_Missense_Mutation_p.L73I|C5orf22_uc010iuj.2_Missense_Mutation_p.L7I	p.L338I	NM_018356	NP_060826	Q49AR2	CE022_HUMAN			7	1138_1139	+			338					Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	DNP	ENST00000325366.9	37	c.1011_1012CC>AA	CCDS3895.1																																																																																				0.312	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		12	429	0	0	0	6.4e-05	0	12	429				
SPEF2	79925	broad.mit.edu	37	5	35800155	35800155	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:35800155C>G	ENST00000356031.3	+	34	5070	c.4916C>G	c.(4915-4917)cCa>cGa	p.P1639R	SPEF2_ENST00000440995.2_Missense_Mutation_p.P1634R|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_Missense_Mutation_p.P436R	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1639					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)		p.P1639R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCTTGCCACCCAGACACCGTG	0.463																																							uc003jjo.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(4915-4917)CCA>CGA		KPL2 protein isoform 1							196.0	180.0	185.0					5																	35800155		1967	4158	6125	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35800155C>G	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4916C>G	5.37:g.35800155C>G	ENSP00000348314:p.Pro1639Arg					SPEF2_uc003jjp.1_Missense_Mutation_p.P1125R|SPEF2_uc003jjr.2_Missense_Mutation_p.P694R	p.P1639R	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		34	5027	+	all_lung(31;7.56e-05)		1639					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.4916C>G	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480353	0.63849	.	.	ENSG00000152582	ENST00000356031;ENST00000440995;ENST00000303129	T;T;T	0.75821	-0.97;-0.97;-0.97	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.86192	0.5874	M	0.74258	2.255	0.46774	D	0.999195	P;D;D	0.89917	0.915;1.0;1.0	P;D;D	0.91635	0.752;0.999;0.998	D	0.84506	0.0619	10	0.36615	T	0.2	.	19.1483	0.93477	0.0:1.0:0.0:0.0	.	436;1634;1639	Q9C093-4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	R	1639;1634;436	ENSP00000348314:P1639R;ENSP00000412125:P1634R;ENSP00000303843:P436R	ENSP00000303843:P436R	P	+	2	0	SPEF2	35835912	0.994000	0.37717	0.976000	0.42696	0.847000	0.48162	3.793000	0.55484	2.621000	0.88768	0.561000	0.74099	CCA		0.463	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		8	291	0	0	0	0.000157383	0	8	291				
SLC1A3	6507	broad.mit.edu	37	5	36608612	36608612	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:36608612C>A	ENST00000265113.4	+	2	563	c.87C>A	c.(85-87)gcC>gcA	p.A29A	SLC1A3_ENST00000381918.3_Silent_p.A29A|SLC1A3_ENST00000506725.1_3'UTR	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	29					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.A29A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACTTTTGGCCAAGAAGAAAG	0.453																																							uc003jkj.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(85-87)GCC>GCA		solute carrier family 1 (glial high affinity	L-Glutamic Acid(DB00142)						173.0	168.0	170.0					5																	36608612		2203	4300	6503	SO:0001819	synonymous_variant	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36608612C>A		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.87C>A	5.37:g.36608612C>A						SLC1A3_uc011cox.1_5'UTR|SLC1A3_uc010iuy.2_Silent_p.A29A	p.A29A	NM_004172	NP_004163	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	563	+	all_lung(31;0.000245)		29			Cytoplasmic (Potential).		B2R5T3|Q4JCQ8	Silent	SNP	ENST00000265113.4	37	c.87C>A	CCDS3919.1																																																																																				0.453	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		79	301	1	0	2.72187e-29	0.000147903	7.05328e-28	79	301				
FYB	2533	broad.mit.edu	37	5	39202308	39202308	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:39202308C>G	ENST00000351578.6	-	2	945	c.755G>C	c.(754-756)gGg>gCg	p.G252A	FYB_ENST00000515010.1_Missense_Mutation_p.G252A|FYB_ENST00000505428.1_Missense_Mutation_p.G252A|FYB_ENST00000512982.1_Missense_Mutation_p.G252A|FYB_ENST00000540520.1_Missense_Mutation_p.G262A	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	252					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.G252A(3)|p.G262A(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)			TGAAATCTCCCCTGCATGGTC	0.498																																							uc003jls.2		NA																	4	Substitution - Missense(4)		lung(4)	ovary(2)	2						c.(754-756)GGG>GCG		FYN binding protein (FYB-120/130) isoform 2							108.0	105.0	106.0					5																	39202308		1833	4088	5921	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.chr5:39202308C>G	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.755G>C	5.37:g.39202308C>G	ENSP00000316460:p.Gly252Ala					FYB_uc003jlt.2_Missense_Mutation_p.G252A|FYB_uc003jlu.2_Missense_Mutation_p.G252A|FYB_uc011cpl.1_Missense_Mutation_p.G262A	p.G252A	NM_199335	NP_955367	O15117	FYB_HUMAN	Epithelial(62;0.235)		1	822	-	all_lung(31;0.000343)		252					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.755G>C	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.515945	0.00151	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.20332	2.09;2.09;2.08;2.08;2.08	6.07	3.14	0.36123	.	1.014470	0.07858	N	0.965811	T	0.13030	0.0316	L	0.35414	1.06	0.09310	N	1	B;B	0.19706	0.038;0.001	B;B	0.16289	0.015;0.005	T	0.37798	-0.9690	10	0.02654	T	1	-3.3962	5.6397	0.17557	0.11:0.3144:0.4912:0.0843	.	262;252	B4DLN2;O15117	.;FYB_HUMAN	A	252;252;252;252;262;252	ENSP00000316460:G252A;ENSP00000426346:G252A;ENSP00000425845:G252A;ENSP00000427114:G252A;ENSP00000442840:G262A	ENSP00000316460:G252A	G	-	2	0	FYB	39238065	0.002000	0.14202	0.001000	0.08648	0.009000	0.06853	1.294000	0.33365	0.780000	0.33566	0.655000	0.94253	GGG		0.498	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465		6	347	0	0	0	8.12818e-05	0	6	347				
FBXO4	26272	broad.mit.edu	37	5	41939605	41939605	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:41939605T>C	ENST00000281623.3	+	6	1017	c.961T>C	c.(961-963)Tcg>Ccg	p.S321P	FBXO4_ENST00000509134.1_Intron	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	321					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)	p.S321P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				CTTTGGGTCTTCGGGAAGACC	0.373																																							uc003jmq.2		NA																	1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(961-963)TCG>CCG		F-box only protein 4 isoform 1							157.0	164.0	161.0					5																	41939605		2203	4300	6503	SO:0001583	missense	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41939605T>C	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.961T>C	5.37:g.41939605T>C	ENSP00000281623:p.Ser321Pro					FBXO4_uc003jmr.2_Intron	p.S321P	NM_012176	NP_036308	Q9UKT5	FBX4_HUMAN			6	1017	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	321					Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	c.961T>C	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	T	10.59	1.392377	0.25118	.	.	ENSG00000151876	ENST00000281623	T	0.49139	0.79	5.29	0.971	0.19698	.	0.473884	0.22014	N	0.065833	T	0.18341	0.0440	N	0.03608	-0.345	0.58432	D	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.03503	-1.1030	10	0.23302	T	0.38	-2.7166	4.2164	0.10537	0.0:0.1787:0.3698:0.4515	.	321	Q9UKT5	FBX4_HUMAN	P	321	ENSP00000281623:S321P	ENSP00000281623:S321P	S	+	1	0	FBXO4	41975362	0.018000	0.18449	0.990000	0.47175	0.856000	0.48823	0.063000	0.14410	0.356000	0.24157	0.459000	0.35465	TCG		0.373	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			251	127	0	0	0	0.000147903	0	251	127				
TMEM167A	153339	broad.mit.edu	37	5	82360853	82360853	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:82360853G>C	ENST00000502346.1	-	2	259	c.87C>G	c.(85-87)ccC>ccG	p.P29P	SCARNA18_ENST00000459004.1_RNA|TMEM167A_ENST00000511450.1_5'UTR	NM_174909.4	NP_777569.1	Q8TBQ9	KISHA_HUMAN	transmembrane protein 167A	29						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.P29P(1)		large_intestine(1)|lung(1)	2						CCAGGAGGCTGGGTGCCAAGG	0.323																																							uc003khx.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(85-87)CCC>CCG		transmembrane protein 167A precursor							88.0	94.0	92.0					5																	82360853		2203	4300	6503	SO:0001819	synonymous_variant	153339					Golgi membrane|integral to membrane		g.chr5:82360853G>C	BC107575, AK055070	CCDS34198.1	5q14.2	2008-06-06	2008-06-06	2008-06-06	ENSG00000174695	ENSG00000174695			28330	protein-coding gene	gene with protein product			"""transmembrane protein 167"""	TMEM167		1316117	Standard	NM_174909		Approved	FLJ30508, MGC23909	uc003khx.4	Q8TBQ9	OTTHUMG00000162570	ENST00000502346.1:c.87C>G	5.37:g.82360853G>C						SCARNA18_uc003khz.2_5'Flank	p.P29P	NM_174909	NP_777569	Q8TBQ9	KISHA_HUMAN			2	217	-			29			Extracellular (Potential).		Q0P692	Silent	SNP	ENST00000502346.1	37	c.87C>G	CCDS34198.1																																																																																				0.323	TMEM167A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369631.2	NM_174909		5	122	0	0	0	8.12818e-05	0	5	122				
TRIM36	55521	broad.mit.edu	37	5	114499299	114499299	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:114499299C>G	ENST00000282369.3	-	2	335	c.214G>C	c.(214-216)Gga>Cga	p.G72R	TRIM36_ENST00000513154.1_Missense_Mutation_p.G60R|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000515104.1_5'UTR	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	72					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G72R(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTGTCTGATCCCACATCGTTG	0.443																																							uc003kqs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|breast(2)	8						c.(214-216)GGA>CGA		tripartite motif-containing 36 isoform 1							164.0	152.0	156.0					5																	114499299		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114499299C>G	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.214G>C	5.37:g.114499299C>G	ENSP00000282369:p.Gly72Arg					TRIM36_uc011cwc.1_Missense_Mutation_p.G60R|TRIM36_uc003kqt.2_Intron	p.G72R	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	2	723	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	72			RING-type; degenerate.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.214G>C	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.985827	0.74589	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	T;T;T	0.54071	0.59;0.71;0.93	5.31	4.44	0.53790	Zinc finger, RING-type (2);	0.873522	0.10323	N	0.688474	T	0.57125	0.2032	L	0.47716	1.5	0.80722	D	1	P;B	0.35363	0.497;0.425	P;P	0.47786	0.557;0.529	T	0.50841	-0.8780	10	0.39692	T	0.17	.	9.7188	0.40291	0.0:0.8449:0.0:0.1551	.	60;72	E9PFI8;Q9NQ86	.;TRI36_HUMAN	R	72;60;60	ENSP00000282369:G72R;ENSP00000423934:G60R;ENSP00000424743:G60R	ENSP00000282369:G72R	G	-	1	0	TRIM36	114527198	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	4.563000	0.60823	2.468000	0.83385	0.655000	0.94253	GGA		0.443	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2	NM_018700		4	56	0	0	0	0.00024832	0	4	56				
FBN2	2201	broad.mit.edu	37	5	127595291	127595291	+	Silent	SNP	G	G	T	rs137914321		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:127595291G>T	ENST00000508053.1	-	71	9569	c.8595C>A	c.(8593-8595)ccC>ccA	p.P2865P	FBN2_ENST00000262464.4_Silent_p.P2865P			P35556	FBN2_HUMAN	fibrillin 2	2865					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.P2865P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGTATGTGCCGGGCATGAGCT	0.507																																							uc003kuu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(8593-8595)CCC>CCA		fibrillin 2 precursor							236.0	210.0	219.0					5																	127595291		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127595291G>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.8595C>A	5.37:g.127595291G>T							p.P2865P	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	65	9034	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2865					B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.8595C>A	CCDS34222.1																																																																																				0.507	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		73	42	1	0	8.2577e-42	0.000147903	2.18512e-40	73	42				
CATSPER3	347732	broad.mit.edu	37	5	134303734	134303734	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:134303734T>C	ENST00000282611.6	+	1	139	c.53T>C	c.(52-54)gTt>gCt	p.V18A	CATSPER3_ENST00000511235.1_3'UTR|PCBD2_ENST00000512783.1_3'UTR	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	18					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.V18A(1)		NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGTTCACCAGTTGACACTACA	0.383																																							uc003lag.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(52-54)GTT>GCT		cation channel, sperm associated 3							120.0	116.0	117.0					5																	134303734		2203	4300	6503	SO:0001583	missense	347732				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr5:134303734T>C	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.53T>C	5.37:g.134303734T>C	ENSP00000282611:p.Val18Ala					PCBD2_uc011cxw.1_3'UTR	p.V18A	NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	121	+			18			Cytoplasmic (Potential).		Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	c.53T>C	CCDS4181.1	.	.	.	.	.	.	.	.	.	.	T	11.36	1.614594	0.28712	.	.	ENSG00000152705	ENST00000282611	D	0.96940	-4.18	4.52	-4.32	0.03688	.	1.411860	0.04610	N	0.400038	D	0.88621	0.6486	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.77515	-0.2559	10	0.46703	T	0.11	0.4707	0.2534	0.00208	0.2744:0.1743:0.2812:0.2701	.	18	Q86XQ3	CTSR3_HUMAN	A	18	ENSP00000282611:V18A	ENSP00000282611:V18A	V	+	2	0	CATSPER3	134331633	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.082000	0.14847	-0.747000	0.04759	-0.262000	0.10625	GTT		0.383	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		21	12	0	0	0	9.22233e-05	0	21	12				
BRD8	10902	broad.mit.edu	37	5	137488277	137488277	+	Missense_Mutation	SNP	G	G	C	rs374460094		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:137488277G>C	ENST00000254900.5	-	21	3121	c.2750C>G	c.(2749-2751)cCg>cGg	p.P917R		NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	917					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTCTCTCTCCGGGCTGCTTTC	0.552																																							uc003lcf.1		NA																	0				ovary(1)	1						c.(2749-2751)CCG>CGG		bromodomain containing 8 isoform 2							212.0	213.0	213.0					5																	137488277		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137488277G>C	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2750C>G	5.37:g.137488277G>C	ENSP00000254900:p.Pro917Arg					BRD8_uc003lcc.1_Intron	p.P917R	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		21	2805	-			917					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.2750C>G	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838839	0.32513	.	.	ENSG00000112983	ENST00000254900;ENST00000427976	T;T	0.31769	1.82;1.48	5.39	4.45	0.53987	.	0.422018	0.17920	N	0.157523	T	0.25306	0.0615	N	0.24115	0.695	0.80722	D	1	P	0.43431	0.807	P	0.44359	0.447	T	0.02053	-1.1222	10	0.72032	D	0.01	-1.4587	10.8434	0.46728	0.0978:0.0:0.9022:0.0	.	917	Q9H0E9	BRD8_HUMAN	R	917;23	ENSP00000254900:P917R;ENSP00000392646:P23R	ENSP00000254900:P917R	P	-	2	0	BRD8	137516176	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	1.981000	0.40628	2.795000	0.96236	0.655000	0.94253	CCG		0.552	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		6	191	0	0	0	0.000157383	0	6	191				
PCDHB5	26167	broad.mit.edu	37	5	140516259	140516259	+	Nonsense_Mutation	SNP	G	G	T	rs374862933		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:140516259G>T	ENST00000231134.5	+	1	1460	c.1243G>T	c.(1243-1245)Gag>Tag	p.E415*		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	415	Cadherin 4. {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.E415*(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)			GAGCCAAGCCGAGTACAACAT	0.502																																							uc003liq.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)	5						c.(1243-1245)GAG>TAG		protocadherin beta 5 precursor							133.0	119.0	124.0					5																	140516259		2203	4300	6503	SO:0001587	stop_gained	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516259G>T	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.1243G>T	5.37:g.140516259G>T	ENSP00000231134:p.Glu415*						p.E415*	NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1460	+			415			Cadherin 4.|Extracellular (Potential).		Q549F4|Q9UFU9	Nonsense_Mutation	SNP	ENST00000231134.5	37	c.1243G>T	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657351	0.47467	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	.	.	.	4.85	3.04	0.35103	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	5.4967	0.16807	0.0731:0.2595:0.5336:0.1338	.	.	.	.	X	415;199	.	ENSP00000231134:E415X	E	+	1	0	PCDHB5	140496443	0.000000	0.05858	0.381000	0.26106	0.032000	0.12392	-1.245000	0.02899	0.559000	0.29153	-0.305000	0.09177	GAG		0.502	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		31	21	1	0	6.84511e-11	8.91981e-05	1.583e-09	31	21				
PCDHGA10	56106	broad.mit.edu	37	5	140794435	140794435	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:140794435G>T	ENST00000398610.2	+	1	1693	c.1693G>T	c.(1693-1695)Gag>Tag	p.E565*	PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	565	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E565*(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGCGCCCGAGATCCTGTA	0.652																																							uc003lkl.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1693-1695)GAG>TAG		protocadherin gamma subfamily A, 10 isoform 1							160.0	178.0	172.0					5																	140794435		2203	4300	6503	SO:0001587	stop_gained	56106				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140794435G>T		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1693G>T	5.37:g.140794435G>T	ENSP00000381611:p.Glu565*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Nonsense_Mutation_p.E565*|PCDHGB7_uc003lkm.2_5'Flank|PCDHGB7_uc003lkn.1_5'Flank	p.E565*	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1693	+			565			Extracellular (Potential).|Cadherin 5.		Q9Y5E0	Nonsense_Mutation	SNP	ENST00000398610.2	37	c.1693G>T	CCDS47292.1	.	.	.	.	.	.	.	.	.	.	g	16.73	3.203870	0.58234	.	.	ENSG00000253846	ENST00000398610	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	5.9974	0.19501	0.1525:0.1699:0.6776:0.0	.	.	.	.	X	565	.	ENSP00000381611:E565X	E	+	1	0	PCDHGA10	140774619	0.000000	0.05858	0.842000	0.33263	0.063000	0.16089	0.084000	0.14891	2.673000	0.90976	0.650000	0.86243	GAG		0.652	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		64	34	1	0	7.05995e-25	0.000147903	1.79566e-23	64	34				
ARHGEF37	389337	broad.mit.edu	37	5	148997825	148997825	+	Missense_Mutation	SNP	C	C	G	rs372222488		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:148997825C>G	ENST00000333677.6	+	6	908	c.745C>G	c.(745-747)Cgg>Ggg	p.R249G		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	249						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R249G(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GAAGACCACCCGGCTGAGCCA	0.652																																							uc003lra.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(745-747)CGG>GGG		hypothetical protein LOC389337							51.0	59.0	56.0					5																	148997825		2007	4179	6186	SO:0001583	missense	389337				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr5:148997825C>G	BC041325	CCDS43385.1	5q33.1	2012-07-24			ENSG00000183111	ENSG00000183111		"""Rho guanine nucleotide exchange factors"""	34430	protein-coding gene	gene with protein product							Standard	XM_005268448		Approved	FLJ41603	uc003lra.1	A1IGU5	OTTHUMG00000163491	ENST00000333677.6:c.745C>G	5.37:g.148997825C>G	ENSP00000328083:p.Arg249Gly						p.R249G	NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN			6	809	+			249					Q6ZW51	Missense_Mutation	SNP	ENST00000333677.6	37	c.745C>G	CCDS43385.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023367	0.75390	.	.	ENSG00000183111	ENST00000333677	T	0.80653	-1.4	5.7	3.85	0.44370	BAR (1);	0.000000	0.85682	D	0.000000	D	0.89097	0.6618	M	0.82056	2.57	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.89080	0.3475	10	0.59425	D	0.04	-7.7155	13.1215	0.59329	0.3013:0.6987:0.0:0.0	.	249	A1IGU5	ARH37_HUMAN	G	249	ENSP00000328083:R249G	ENSP00000328083:R249G	R	+	1	2	ARHGEF37	148978018	0.517000	0.26226	1.000000	0.80357	0.997000	0.91878	1.127000	0.31357	0.692000	0.31613	0.655000	0.94253	CGG		0.652	ARHGEF37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373763.1	NM_001001669		3	39	0	0	0	6.4e-05	0	3	39				
WWC1	23286	broad.mit.edu	37	5	167850972	167850972	+	Missense_Mutation	SNP	C	C	G	rs146672179	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:167850972C>G	ENST00000265293.4	+	11	2211	c.1709C>G	c.(1708-1710)cCg>cGg	p.P570R	WWC1_ENST00000521089.1_Missense_Mutation_p.P570R	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	570					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)	p.P570R(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TTTGAAGACCCGGAGCTGAGT	0.602																																							uc003lzu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|breast(1)	5						c.(1708-1710)CCG>CGG		WW and C2 domain containing 1 isoform 3							66.0	67.0	67.0					5																	167850972		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167850972C>G	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.1709C>G	5.37:g.167850972C>G	ENSP00000265293:p.Pro570Arg					WWC1_uc003lzv.2_Missense_Mutation_p.P570R|WWC1_uc011den.1_Missense_Mutation_p.P570R|WWC1_uc003lzw.2_Missense_Mutation_p.P369R	p.P570R	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	11	1802	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	570					B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.1709C>G	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	7.340	0.620663	0.14193	.	.	ENSG00000113645	ENST00000265293;ENST00000521089	T;T	0.19250	2.16;2.16	4.98	4.09	0.47781	.	0.527164	0.19212	N	0.119912	T	0.15349	0.0370	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.32071	0.065;0.355;0.355;0.081	B;B;B;B	0.33254	0.052;0.16;0.16;0.07	T	0.20706	-1.0267	10	0.15952	T	0.53	.	8.8386	0.35129	0.0:0.7699:0.1517:0.0785	.	570;476;476;570	Q8IX03-2;F5H498;B3KX05;Q8IX03	.;.;.;KIBRA_HUMAN	R	570	ENSP00000265293:P570R;ENSP00000427772:P570R	ENSP00000265293:P570R	P	+	2	0	WWC1	167783550	0.042000	0.20092	0.727000	0.30756	0.942000	0.58702	2.951000	0.49089	1.070000	0.40811	0.655000	0.94253	CCG		0.602	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		4	117	0	0	0	1.23904e-05	0	4	117				
DOCK2	1794	broad.mit.edu	37	5	169127118	169127118	+	Silent	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:169127118G>T	ENST00000256935.8	+	13	1313	c.1233G>T	c.(1231-1233)ctG>ctT	p.L411L		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	411					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.L411L(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)			CCAGGAAGCTGGGATTCCCAG	0.537																																							uc003maf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(1231-1233)CTG>CTT		dedicator of cytokinesis 2							147.0	135.0	139.0					5																	169127118		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169127118G>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.1233G>T	5.37:g.169127118G>T						DOCK2_uc011der.1_RNA|DOCK2_uc010jjl.1_5'Flank	p.L411L	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	1313	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	411					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.1233G>T	CCDS4371.1																																																																																				0.537	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		8	139	1	0	0.000274275	0.000274275	0.00558288	8	139				
DOCK2	1794	broad.mit.edu	37	5	169188557	169188557	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:169188557C>A	ENST00000256935.8	+	25	2562	c.2482C>A	c.(2482-2484)Cct>Act	p.P828T	DOCK2_ENST00000520908.1_Missense_Mutation_p.P320T|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_De_novo_Start_OutOfFrame	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	828					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGCATCCCTCCTGTGAAACT	0.493																																							uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(2482-2484)CCT>ACT		dedicator of cytokinesis 2							197.0	184.0	188.0					5																	169188557		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.chr5:169188557C>A	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.2482C>A	5.37:g.169188557C>A	ENSP00000256935:p.Pro828Thr					DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.P320T	p.P828T	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		25	2562	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	828					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.2482C>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475967	0.63737	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.68025	-0.3;-0.3;-0.3	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.71117	0.3302	L	0.28344	0.845	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.986;0.994	T	0.63580	-0.6605	10	0.12766	T	0.61	.	18.5738	0.91147	0.0:1.0:0.0:0.0	.	320;828	E7ERW7;Q92608	.;DOCK2_HUMAN	T	828;209;320;32	ENSP00000256935:P828T;ENSP00000429283:P320T;ENSP00000428841:P32T	ENSP00000256935:P828T	P	+	1	0	DOCK2	169121135	1.000000	0.71417	0.566000	0.28421	0.992000	0.81027	7.005000	0.76323	2.760000	0.94817	0.655000	0.94253	CCT		0.493	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		149	55	1	0	4.76223e-79	0.000147903	1.27985e-77	149	55				
FGF18	8817	broad.mit.edu	37	5	170863159	170863159	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:170863159G>C	ENST00000274625.5	+	3	676	c.132G>C	c.(130-132)cgG>cgC	p.R44R		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	44					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)	p.R44R(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CGCGGGCTCGGGACGATGTGA	0.637																																							uc003mbk.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(130-132)CGG>CGC		fibroblast growth factor 18 precursor							67.0	61.0	63.0					5																	170863159		2203	4300	6503	SO:0001819	synonymous_variant	8817				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding	g.chr5:170863159G>C	AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.132G>C	5.37:g.170863159G>C							p.R44R	NM_003862	NP_003853	O76093	FGF18_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	669	+	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	44					D3DQL7|Q6UWF1	Silent	SNP	ENST00000274625.5	37	c.132G>C	CCDS4378.1																																																																																				0.637	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252857.2	NM_033649, NM_003862		3	27	0	0	0	1.23904e-05	0	3	27				
SIMC1	375484	broad.mit.edu	37	5	175717588	175717588	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:175717588G>C	ENST00000443967.1	+	4	1411	c.1004G>C	c.(1003-1005)gGg>gCg	p.G335A	SIMC1_ENST00000429602.2_Missense_Mutation_p.G354A|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000341199.6_Intron			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	335	Pro-rich.						SUMO polymer binding (GO:0032184)	p.G335A(1)									CACTCATCAGGGGACGTGACA	0.522																																							uc003mds.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1003-1005)GGG>GCG		RecName: Full=Uncharacterized protein C5orf25;							140.0	135.0	137.0					5																	175717588		2202	4281	6483	SO:0001583	missense	375484							g.chr5:175717588G>C	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1004G>C	5.37:g.175717588G>C	ENSP00000406571:p.Gly335Ala					C5orf25_uc003mdt.3_Intron|C5orf25_uc003mdr.3_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.G354A|uc003mdu.1_Missense_Mutation_p.G246A	p.G335A			Q8NDZ2	CE025_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)	4	1411	+	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	335			Pro-rich.		J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37	c.1004G>C		.	.	.	.	.	.	.	.	.	.	G	0.033	-1.322663	0.01320	.	.	ENSG00000170085	ENST00000443967;ENST00000429602;ENST00000377277	T;T	0.31769	2.25;1.48	3.13	0.0905	0.14464	.	1.252760	0.05389	N	0.538707	T	0.14614	0.0353	.	.	.	0.09310	N	1	B;B	0.32101	0.356;0.206	B;B	0.30401	0.115;0.06	T	0.17899	-1.0354	9	0.13470	T	0.59	-0.0899	2.6033	0.04872	0.282:0.0:0.4942:0.2238	.	354;335	B4DRM7;Q8NDZ2	.;CE025_HUMAN	A	335;354;246	ENSP00000406571:G335A;ENSP00000410552:G354A	ENSP00000366489:G246A	G	+	2	0	C5orf25	175650194	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.203000	0.09438	-0.011000	0.14247	-0.422000	0.05995	GGG		0.522	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		5	125	0	0	0	1.23904e-05	0	5	125				
ZNF454	285676	broad.mit.edu	37	5	178392340	178392340	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:178392340G>A	ENST00000320129.3	+	5	1238	c.935G>A	c.(934-936)aGg>aAg	p.R312K	ZNF454_ENST00000519564.1_Missense_Mutation_p.R312K	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	312					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.R312K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TTTGTGTGCAGGGCACACCTT	0.378																																							uc003mjo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(934-936)AGG>AAG		zinc finger protein 454							52.0	56.0	55.0					5																	178392340		2203	4300	6503	SO:0001583	missense	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178392340G>A	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.935G>A	5.37:g.178392340G>A	ENSP00000326249:p.Arg312Lys					ZNF454_uc010jkz.1_Missense_Mutation_p.R312K	p.R312K	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	1206	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	312			C2H2-type 5.		Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	c.935G>A	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	G	1.704	-0.500785	0.04261	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.03951	3.75;3.75	4.11	4.11	0.48088	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38837	N	0.001542	T	0.02688	0.0081	N	0.11106	0.095	0.09310	N	1	B	0.29955	0.263	B	0.28553	0.091	T	0.41680	-0.9495	10	0.06236	T	0.91	-11.2617	14.2275	0.65871	0.0:0.0:1.0:0.0	.	312	Q8N9F8	ZN454_HUMAN	K	312	ENSP00000326249:R312K;ENSP00000430354:R312K	ENSP00000326249:R312K	R	+	2	0	ZNF454	178324946	0.000000	0.05858	0.998000	0.56505	0.005000	0.04900	0.034000	0.13776	2.296000	0.77279	0.585000	0.79938	AGG		0.378	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		49	16	0	0	0	0.000147903	0	49	16				
BTNL9	153579	broad.mit.edu	37	5	180486691	180486691	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr5:180486691G>C	ENST00000327705.9	+	11	1668	c.1437G>C	c.(1435-1437)tcG>tcC	p.S479S	BTNL9_ENST00000376842.3_Silent_p.S480S	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	479	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)		p.S479S(1)		breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACACCTTCTCGGGCGCGCTCT	0.672																																							uc003mmt.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1435-1437)TCG>TCC		butyrophilin-like 9 precursor							37.0	36.0	36.0					5																	180486691		2203	4300	6503	SO:0001819	synonymous_variant	153579					integral to membrane		g.chr5:180486691G>C	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.1437G>C	5.37:g.180486691G>C							p.S479S	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		11	1668	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	479			Cytoplasmic (Potential).|B30.2/SPRY.		A6NL42|Q6P660|Q96DM5	Silent	SNP	ENST00000327705.9	37	c.1437G>C	CCDS4460.2																																																																																				0.672	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	NM_152547		3	35	0	0	0	6.4e-05	0	3	35				
RREB1	6239	broad.mit.edu	37	6	7231086	7231086	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:7231086C>A	ENST00000349384.6	+	10	3068	c.2754C>A	c.(2752-2754)tcC>tcA	p.S918S	RREB1_ENST00000334984.6_Silent_p.S918S|RREB1_ENST00000379938.2_Silent_p.S918S|RREB1_ENST00000379933.3_Silent_p.S918S	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	918					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S918S(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AAAACATCTCCTTTCTGAGCC	0.567																																							uc003mxc.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11						c.(2752-2754)TCC>TCA		ras responsive element binding protein 1 isoform							69.0	67.0	68.0					6																	7231086		2203	4300	6503	SO:0001819	synonymous_variant	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231086C>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2754C>A	6.37:g.7231086C>A						RREB1_uc003mxb.2_Silent_p.S918S|RREB1_uc010jnx.2_Silent_p.S918S	p.S918S	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN			10	3144	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	918					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	c.2754C>A	CCDS34336.1																																																																																				0.567	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1			32	29	1	0	3.76114e-14	0.000132358	8.87705e-13	32	29				
FAM65B	9750	broad.mit.edu	37	6	24843408	24843408	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:24843408C>T	ENST00000259698.4	-	14	1777	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E	FAM65B_ENST00000538035.1_Silent_p.E513E|FAM65B_ENST00000473070.1_5'Flank|FAM65B_ENST00000378023.4_Silent_p.E484E|FAM65B_ENST00000540914.1_Silent_p.E484E|FAM65B_ENST00000510784.2_Silent_p.E518E	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	534					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)		p.E484E(1)|p.E534E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CAACATCATTCTCAAGGAACA	0.572																																							uc003neo.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1600-1602)GAG>GAA		hypothetical protein LOC9750 isoform 1							109.0	108.0	109.0					6																	24843408		1934	4131	6065	SO:0001819	synonymous_variant	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24843408C>T	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1602G>A	6.37:g.24843408C>T						FAM65B_uc011djs.1_Silent_p.E513E|FAM65B_uc011dju.1_Silent_p.E518E|FAM65B_uc003nep.2_Silent_p.E484E|FAM65B_uc011djt.1_Silent_p.E484E	p.E534E	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN			14	1778	-			534					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Silent	SNP	ENST00000259698.4	37	c.1602G>A	CCDS47383.1																																																																																				0.572	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			56	78	0	0	0	0.000147903	0	56	78				
HIST1H2BM	8342	broad.mit.edu	37	6	27783099	27783099	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:27783099G>C	ENST00000359465.4	+	1	278	c.278G>C	c.(277-279)aGg>aCg	p.R93T	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	93					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R93T(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						ATCACTTCGAGGGAGATCCAG	0.587																																							uc003njo.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(277-279)AGG>ACG		histone cluster 1, H2bm							76.0	74.0	75.0					6																	27783099		2203	4300	6503	SO:0001583	missense	8342				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27783099G>C	Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"""Histones / Replication-dependent"""	4750	protein-coding gene	gene with protein product		602802	"""H2B histone family, member E"", ""histone 1, H2bm"""	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.278G>C	6.37:g.27783099G>C	ENSP00000352442:p.Arg93Thr					HIST1H2AJ_uc003njn.1_5'Flank	p.R93T	NM_003521	NP_003512	Q99879	H2B1M_HUMAN			1	278	+			93					Q6NWQ3	Missense_Mutation	SNP	ENST00000359465.4	37	c.278G>C	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	17.46	3.396378	0.62177	.	.	ENSG00000196374	ENST00000359465	T	0.52295	0.67	4.34	4.34	0.51931	Histone-fold (2);Histone core (1);	0.000000	0.52532	U	0.000071	T	0.70518	0.3233	H	0.97103	3.94	0.58432	D	0.999998	D	0.54207	0.965	P	0.56127	0.792	T	0.82182	-0.0584	10	0.87932	D	0	.	16.3606	0.83263	0.0:0.0:1.0:0.0	.	93	Q99879	H2B1M_HUMAN	T	93	ENSP00000352442:R93T	ENSP00000352442:R93T	R	+	2	0	HIST1H2BM	27891078	1.000000	0.71417	0.948000	0.38648	0.986000	0.74619	9.154000	0.94694	2.391000	0.81399	0.563000	0.77884	AGG		0.587	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521		4	82	0	0	0	1.23904e-05	0	4	82				
TRIM27	5987	broad.mit.edu	37	6	28879488	28879489	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:28879488_28879489CC>AA	ENST00000377199.3	-	4	1110_1111	c.754_755GG>TT	c.(754-756)GGg>TTg	p.G252L	TRIM27_ENST00000377194.3_Missense_Mutation_p.G252L|TRIM27_ENST00000498117.1_5'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	252					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G252L(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CAATGTGTCCCCAATGTCCTGC	0.376			T	RET	papillary thyroid																																		uc003nlr.2		NA		Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(754-756)GGG>TTG		ret finger protein																																				SO:0001583	missense	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28879488_28879489CC>AA	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.754_755delinsAA	6.37:g.28879488_28879489delinsAA	ENSP00000366404:p.Gly252Leu					TRIM27_uc003nls.2_Missense_Mutation_p.G252L|TRIM27_uc003nlt.1_Missense_Mutation_p.G252L	p.G252L	NM_006510	NP_006501	P14373	TRI27_HUMAN			4	1113_1114	-			252					A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	DNP	ENST00000377199.3	37	c.754_755GG>TT	CCDS4654.1																																																																																				0.376	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950		8	102	0	0	0	6.4e-05	0	8	102				
OR2J2	26707	broad.mit.edu	37	6	29141763	29141763	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:29141763G>C	ENST00000377167.2	+	1	453	c.351G>C	c.(349-351)gtG>gtC	p.V117V		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V117V(1)		endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCCTACTGGTGGTGATGTCAT	0.488																																							uc011dlm.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(349-351)GTG>GTC		olfactory receptor, family 2, subfamily J,							292.0	274.0	280.0					6																	29141763		2081	4200	6281	SO:0001819	synonymous_variant	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29141763G>C		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.351G>C	6.37:g.29141763G>C							p.V117V	NM_030905	NP_112167	O76002	OR2J2_HUMAN			1	453	+			117			Helical; Name=3; (Potential).		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Silent	SNP	ENST00000377167.2	37	c.351G>C	CCDS43434.1																																																																																				0.488	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			6	320	0	0	0	3.59834e-05	0	6	320				
OR11A1	26531	broad.mit.edu	37	6	29395095	29395095	+	Silent	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:29395095T>A	ENST00000377149.1	-	5	796	c.324A>T	c.(322-324)ctA>ctT	p.L108L	OR11A1_ENST00000377147.2_Silent_p.L108L|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Silent_p.L108L			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L108L(1)		cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CAGCTGTGGCTAGAGAGCCGA	0.537																																							uc003nmg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(322-324)CTA>CTT		olfactory receptor, family 11, subfamily A,							54.0	55.0	55.0					6																	29395095		1511	2708	4219	SO:0001819	synonymous_variant	26531				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29395095T>A		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.324A>T	6.37:g.29395095T>A							p.L108L	NM_013937	NP_039225	Q9GZK7	O11A1_HUMAN			1	415	-			108			Helical; Name=3; (Potential).		A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Silent	SNP	ENST00000377149.1	37	c.324A>T	CCDS34363.1																																																																																				0.537	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1			25	26	0	0	0	0.00047179	0	25	26				
COL11A2	1302	broad.mit.edu	37	6	33133723	33133723	+	Silent	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:33133723G>T	ENST00000374708.4	-	60	4467	c.4209C>A	c.(4207-4209)ggC>ggA	p.G1403G	COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Silent_p.G1408G|COL11A2_ENST00000357486.1_Silent_p.G1468G|COL11A2_ENST00000395197.1_Silent_p.G1429G|COL11A2_ENST00000374714.1_Silent_p.G1463G|COL11A2_ENST00000374713.1_Silent_p.G1442G|COL11A2_ENST00000361917.1_Silent_p.G1382G|COL11A2_ENST00000341947.2_Silent_p.G1489G	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1489	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1489G(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GTCCTGGAGGGCCCTGCACAC	0.607																																					Melanoma(1;90 116 3946 5341 17093)	Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(4465-4467)GGC>GGA		collagen, type XI, alpha 2 isoform 1							37.0	35.0	36.0					6																	33133723		2203	4298	6501	SO:0001819	synonymous_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33133723G>T	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.4209C>A	6.37:g.33133723G>T						COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.G1403G|COL11A2_uc003ocz.1_Silent_p.G1382G	p.G1489G	NM_080680	NP_542411	P13942	COBA2_HUMAN			62	4695	-			1489			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Silent	SNP	ENST00000374708.4	37	c.4467C>A	CCDS43452.1																																																																																				0.607	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			10	20	1	0	7.48243e-07	0.000442599	1.66062e-05	10	20				
RGL2	5863	broad.mit.edu	37	6	33260873	33260873	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:33260873C>A	ENST00000497454.1	-	16	2422	c.1927G>T	c.(1927-1929)Ggg>Tgg	p.G643W	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	643					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GCCCCTGGCCCAGATCCCTCT	0.622																																							uc003odv.2		NA																	0				skin(3)|lung(1)|breast(1)|pancreas(1)	6						c.(1927-1929)GGG>TGG		ral guanine nucleotide dissociation							125.0	147.0	139.0					6																	33260873		2203	4300	6503	SO:0001583	missense	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33260873C>A		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1927G>T	6.37:g.33260873C>A	ENSP00000420211:p.Gly643Trp					RGL2_uc003odu.2_Missense_Mutation_p.G203W|RGL2_uc010jur.2_Missense_Mutation_p.G203W|RGL2_uc003odw.2_Missense_Mutation_p.G561W	p.G643W	NM_004761	NP_004752	O15211	RGL2_HUMAN			16	2060	-			643					B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	ENST00000497454.1	37	c.1927G>T	CCDS4774.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276631	0.59758	.	.	ENSG00000237441	ENST00000497454;ENST00000421215	T	0.12039	2.72	4.6	4.6	0.57074	.	0.332135	0.29814	N	0.011139	T	0.16557	0.0398	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	T	0.00747	-1.1583	10	0.72032	D	0.01	.	12.8144	0.57657	0.0:1.0:0.0:0.0	.	643	O15211	RGL2_HUMAN	W	643;507	ENSP00000420211:G643W	ENSP00000400083:G507W	G	-	1	0	RGL2	33368851	0.985000	0.35326	0.994000	0.49952	0.992000	0.81027	2.802000	0.47916	2.389000	0.81357	0.643000	0.83706	GGG		0.622	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			10	233	1	0	3.86212e-05	3.86212e-05	0.000822643	10	233				
PNPLA1	285848	broad.mit.edu	37	6	36259267	36259267	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:36259267C>G	ENST00000394571.2	+	2	376	c.376C>G	c.(376-378)Cgc>Ggc	p.R126G	PNPLA1_ENST00000312917.5_Missense_Mutation_p.R31G|PNPLA1_ENST00000388715.3_Missense_Mutation_p.R31G	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	126	Patatin.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)	p.R31G(1)|p.R126G(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GAGCCTCACCCGCTTAACGGA	0.602																																							uc010jwf.2		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						c.(376-378)CGC>GGC		patatin-like phospholipase domain containing 1							70.0	62.0	65.0					6																	36259267		2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36259267C>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.376C>G	6.37:g.36259267C>G	ENSP00000378072:p.Arg126Gly					PNPLA1_uc003olw.1_Missense_Mutation_p.R31G|PNPLA1_uc010jwe.1_Missense_Mutation_p.R31G	p.R126G	NM_001145717	NP_001139189	Q8N8W4	PLPL1_HUMAN			2	376	+			126			Patatin.		A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.376C>G	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147221	0.57151	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.24	5.24	0.73138	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.64402	D	0.000012	D	0.87601	0.6218	M	0.84773	2.715	0.41687	D	0.989322	D;D	0.89917	1.0;1.0	D;D	0.87578	0.985;0.998	D	0.89575	0.3816	10	0.87932	D	0	-21.413	16.3104	0.82865	0.0:1.0:0.0:0.0	.	126;31	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	G	31;31;126;126	ENSP00000373367:R31G;ENSP00000321116:R31G;ENSP00000391868:R126G;ENSP00000378072:R126G	ENSP00000321116:R31G	R	+	1	0	PNPLA1	36367245	0.837000	0.29446	0.984000	0.44739	0.605000	0.37080	0.920000	0.28705	2.444000	0.82710	0.467000	0.42956	CGC		0.602	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		3	16	0	0	0	6.4e-05	0	3	16				
KCNK16	83795	broad.mit.edu	37	6	39285675	39285675	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:39285675A>G	ENST00000373229.5	-	3	395	c.382T>C	c.(382-384)Tat>Cat	p.Y128H	KCNK16_ENST00000373227.4_Missense_Mutation_p.Y128H|KCNK16_ENST00000507712.1_Missense_Mutation_p.Y63H|KCNK16_ENST00000437525.2_Missense_Mutation_p.Y128H|KCNK16_ENST00000425054.2_Missense_Mutation_p.Y128H	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	128					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.Y128H(2)		large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AACAGGGCATAGAAGACACAG	0.587																																							uc003ooq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(382-384)TAT>CAT		potassium channel, subfamily K, member 16							70.0	58.0	62.0					6																	39285675		2203	4300	6503	SO:0001583	missense	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39285675A>G	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.382T>C	6.37:g.39285675A>G	ENSP00000362326:p.Tyr128His					KCNK16_uc003oor.3_Missense_Mutation_p.Y128H|KCNK16_uc010jwy.2_Missense_Mutation_p.Y128H|KCNK16_uc011dtz.1_Missense_Mutation_p.Y128H	p.Y128H	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN			3	396	-			128			Helical; (Potential).		B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	c.382T>C	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.701598	0.88924	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000507712;ENST00000373227;ENST00000437525	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.65	5.65	0.86999	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	T	0.65186	0.2667	H	0.94264	3.515	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.997;0.998;0.99	T	0.75938	-0.3141	10	0.59425	D	0.04	.	15.538	0.76018	1.0:0.0:0.0:0.0	.	128;128;128;128	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	H	128;128;63;128;128	ENSP00000362326:Y128H;ENSP00000391498:Y128H;ENSP00000423842:Y63H;ENSP00000362324:Y128H;ENSP00000415375:Y128H	ENSP00000362324:Y128H	Y	-	1	0	KCNK16	39393653	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.515000	0.90548	2.154000	0.67381	0.459000	0.35465	TAT		0.587	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		15	25	0	0	0	0.000422831	0	15	25				
MEP1A	4224	broad.mit.edu	37	6	46801138	46801138	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:46801138G>C	ENST00000230588.4	+	11	1481	c.1472G>C	c.(1471-1473)gGg>gCg	p.G491A		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	491	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G491A(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GTGTGCAGTGGGGAGAACGAT	0.473																																							uc010jzh.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1471-1473)GGG>GCG		meprin A alpha precursor							122.0	128.0	126.0					6																	46801138		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46801138G>C		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1472G>C	6.37:g.46801138G>C	ENSP00000230588:p.Gly491Ala					MEP1A_uc011dwg.1_Missense_Mutation_p.G213A|MEP1A_uc011dwh.1_Missense_Mutation_p.G519A|MEP1A_uc011dwi.1_Missense_Mutation_p.G391A	p.G491A	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		11	1514	+			491			MATH.|Extracellular (Potential).		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.1472G>C	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262175	0.80358	.	.	ENSG00000112818	ENST00000230588	T	0.37058	1.22	5.72	5.72	0.89469	TRAF-type (1);TRAF-like (1);MATH (3);	0.046101	0.85682	D	0.000000	T	0.67674	0.2918	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.75972	-0.3129	10	0.72032	D	0.01	-23.1321	19.8751	0.96867	0.0:0.0:1.0:0.0	.	519;491	B7ZL91;Q16819	.;MEP1A_HUMAN	A	491	ENSP00000230588:G491A	ENSP00000230588:G491A	G	+	2	0	MEP1A	46909097	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.799000	0.85936	2.706000	0.92434	0.650000	0.86243	GGG		0.473	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		4	145	0	0	0	0.00024832	0	4	145				
PGK2	5232	broad.mit.edu	37	6	49753693	49753693	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:49753693A>G	ENST00000304801.3	-	1	1360	c.1208T>C	c.(1207-1209)cTg>cCg	p.L403P		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	403					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.L403P(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTTACCTTCCAGAAGCTCTAG	0.473																																							uc003ozu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1207-1209)CTG>CCG		phosphoglycerate kinase 2							85.0	83.0	84.0					6																	49753693		2203	4300	6503	SO:0001583	missense	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49753693A>G	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.1208T>C	6.37:g.49753693A>G	ENSP00000305995:p.Leu403Pro						p.L403P	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	1315	-	Lung NSC(77;0.0402)		403					B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	c.1208T>C	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.519628	0.64634	.	.	ENSG00000170950	ENST00000304801	D	0.96232	-3.95	4.19	4.19	0.49359	Phosphoglycerate kinase, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.99020	0.9665	H	0.99811	4.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98370	1.0553	10	0.87932	D	0	-8.8092	11.8373	0.52333	1.0:0.0:0.0:0.0	.	403	P07205	PGK2_HUMAN	P	403	ENSP00000305995:L403P	ENSP00000305995:L403P	L	-	2	0	PGK2	49861652	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.448000	0.90335	2.115000	0.64714	0.477000	0.44152	CTG		0.473	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			61	72	0	0	0	0.000147903	0	61	72				
GSTA5	221357	broad.mit.edu	37	6	52705574	52705574	+	Missense_Mutation	SNP	C	C	G	rs373314602		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:52705574C>G	ENST00000370989.2	-	1	67	c.38G>C	c.(37-39)cGg>cCg	p.R13P	GSTA5_ENST00000475052.1_5'UTR|GSTA5_ENST00000284562.2_Missense_Mutation_p.R13P			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	13	GST N-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)	p.R13P(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CATACTGCCCCGTGCATTGGA	0.463																																							uc003pba.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(37-39)CGG>CCG		glutathione S-transferase alpha 5	Glutathione(DB00143)	C	PRO/ARG	0,4406		0,0,2203	119.0	111.0	114.0		38	1.3	0.0	6		114	1,8599	1.2+/-3.3	0,1,4299	no	missense	GSTA5	NM_153699.1	103	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	13/223	52705574	1,13005	2203	4300	6503	SO:0001583	missense	221357				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52705574C>G	BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.38G>C	6.37:g.52705574C>G	ENSP00000360028:p.Arg13Pro						p.R13P	NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN			2	108	-	Lung NSC(77;0.0912)		13			GST N-terminal.		Q5SZC2	Missense_Mutation	SNP	ENST00000370989.2	37	c.38G>C	CCDS4946.1	.	.	.	.	.	.	.	.	.	.	c	10.58	1.389899	0.25118	0.0	1.16E-4	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.07567	3.18;3.18	3.16	1.3	0.21679	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.061455	0.64402	D	0.000008	T	0.18759	0.0450	M	0.90595	3.13	0.42790	D	0.993899	D	0.64830	0.994	D	0.68765	0.96	T	0.02042	-1.1224	10	0.87932	D	0	.	8.7888	0.34837	0.0:0.7997:0.0:0.2003	.	13	Q7RTV2	GSTA5_HUMAN	P	13	ENSP00000360028:R13P;ENSP00000284562:R13P	ENSP00000284562:R13P	R	-	2	0	GSTA5	52813533	0.171000	0.23029	0.042000	0.18584	0.006000	0.05464	2.133000	0.42093	0.063000	0.16370	-1.098000	0.02139	CGG		0.463	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040917.1	NM_153699		4	102	0	0	0	1.23904e-05	0	4	102				
DST	667	broad.mit.edu	37	6	56373423	56373423	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:56373423C>G	ENST00000361203.3	-	70	18190	c.18183G>C	c.(18181-18183)ttG>ttC	p.L6061F	DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.L3975F|DST_ENST00000340834.4_5'UTR|DST_ENST00000370754.5_Missense_Mutation_p.L6350F|DST_ENST00000370769.4_Missense_Mutation_p.L6172F|DST_ENST00000446842.2_Missense_Mutation_p.L5846F|DST_ENST00000244364.6_Missense_Mutation_p.L3758F|DST_ENST00000421834.2_Missense_Mutation_p.L4084F			Q03001	DYST_HUMAN	dystonin	6054					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.L6172F(1)|p.L3758F(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)			TGGTAACTATCAATGACATGT	0.428																																							uc003pdf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(12784-12786)TTG>TTC		dystonin isoform 2							214.0	212.0	212.0					6																	56373423		1903	4125	6028	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.chr6:56373423C>G	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.18183G>C	6.37:g.56373423C>G	ENSP00000354508:p.Leu6061Phe					DST_uc003pcz.3_Missense_Mutation_p.L4084F|DST_uc011dxj.1_Missense_Mutation_p.L4113F|DST_uc011dxk.1_Missense_Mutation_p.L4124F|DST_uc003pcy.3_Missense_Mutation_p.L3758F	p.L4262F	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		69	12814	-	Lung NSC(77;0.103)		6170					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.12786G>C		.	.	.	.	.	.	.	.	.	.	C	14.07	2.426226	0.43020	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000537444	T;T;T;T;T;T;T	0.67865	0.98;0.98;0.98;0.98;0.98;0.98;-0.29	6.06	2.54	0.30619	.	0.000000	0.41938	D	0.000783	T	0.61924	0.2386	M	0.66939	2.045	0.33971	D	0.646809	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.986;0.988	T	0.59506	-0.7442	9	0.30078	T	0.28	.	2.7832	0.05366	0.1609:0.4822:0.1037:0.2532	.	4084;6172;6350;6170;3758	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	F	3758;6350;6172;4084;5846;3975;6061;174	ENSP00000244364:L3758F;ENSP00000359790:L6350F;ENSP00000359805:L6172F;ENSP00000400883:L4084F;ENSP00000393645:L5846F;ENSP00000359824:L3975F;ENSP00000354508:L6061F	ENSP00000244364:L3758F	L	-	3	2	DST	56481382	0.997000	0.39634	0.324000	0.25361	0.984000	0.73092	0.428000	0.21395	0.706000	0.31912	0.650000	0.86243	TTG		0.428	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		70	123	0	0	0	0.000147903	0	70	123				
DST	667	broad.mit.edu	37	6	56516036	56516036	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:56516036G>T	ENST00000361203.3	-	7	595	c.588C>A	c.(586-588)gaC>gaA	p.D196E	DST_ENST00000312431.6_Missense_Mutation_p.D196E|DST_ENST00000370788.2_Missense_Mutation_p.D196E|DST_ENST00000370754.5_Missense_Mutation_p.D374E|DST_ENST00000370769.4_Missense_Mutation_p.D196E|DST_ENST00000421834.2_Missense_Mutation_p.D196E			Q03001	DYST_HUMAN	dystonin	196	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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.D196E(1)|p.D374E(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)			TATCTATCAGGTCCGGCCTAG	0.343																																							uc003pdf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(1120-1122)GAC>GAA		dystonin isoform 2							28.0	26.0	27.0					6																	56516036		1831	4075	5906	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.chr6:56516036G>T	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.588C>A	6.37:g.56516036G>T	ENSP00000354508:p.Asp196Glu					DST_uc003pcz.3_Missense_Mutation_p.D196E|DST_uc011dxj.1_Missense_Mutation_p.D225E|DST_uc011dxk.1_Missense_Mutation_p.D236E|DST_uc011dxl.1_Missense_Mutation_p.D225E|DST_uc003pde.2_Missense_Mutation_p.D312E	p.D374E	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		10	1150	-	Lung NSC(77;0.103)		196			CH 2.|Actin-binding.		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.1122C>A		.	.	.	.	.	.	.	.	.	.	G	16.67	3.188357	0.57909	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000421834;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000520645;ENST00000449297	D;D;D;D;D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72;-3.72	5.38	5.38	0.77491	Calponin homology domain (5);	0.000000	0.64402	D	0.000020	D	0.97823	0.9285	.	.	.	0.31361	N	0.6814009999999999	B;D;D;D;P;D	0.89917	0.099;0.999;0.997;1.0;0.552;0.999	B;D;D;D;B;D	0.87578	0.097;0.997;0.994;0.998;0.158;0.997	D	0.98139	1.0435	8	0.87932	D	0	.	19.3168	0.94218	0.0:0.0:1.0:0.0	.	225;196;196;374;312;196	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q03001	.;.;.;.;.;DYST_HUMAN	E	374;196;196;196;196;196;236;374	ENSP00000359790:D374E;ENSP00000359805:D196E;ENSP00000400883:D196E;ENSP00000307959:D196E;ENSP00000359824:D196E;ENSP00000354508:D196E;ENSP00000431030:D236E;ENSP00000393082:D374E	ENSP00000307959:D196E	D	-	3	2	DST	56623995	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.727000	0.61993	2.786000	0.95864	0.563000	0.77884	GAC		0.343	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		9	14	1	0	0.000274275	0.000274275	0.00558288	9	14				
DOPEY1	23033	broad.mit.edu	37	6	83838812	83838812	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:83838812C>G	ENST00000349129.2	+	16	2186	c.1926C>G	c.(1924-1926)tcC>tcG	p.S642S	DOPEY1_ENST00000237163.5_Silent_p.S623S|DOPEY1_ENST00000369739.3_Silent_p.S633S	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	642					protein transport (GO:0015031)			p.S642S(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAACAGCATCCACTGTGGGAT	0.522																																							uc003pjs.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1924-1926)TCC>TCG		dopey family member 1							116.0	119.0	118.0					6																	83838812		2203	4300	6503	SO:0001819	synonymous_variant	23033				protein transport			g.chr6:83838812C>G	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.1926C>G	6.37:g.83838812C>G						DOPEY1_uc011dyy.1_Silent_p.S633S|DOPEY1_uc010kbl.1_Silent_p.S633S	p.S642S	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	16	2186	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	642					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	37	c.1926C>G	CCDS4996.1																																																																																				0.522	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		4	102	0	0	0	0.00024832	0	4	102				
CNR1	1268	broad.mit.edu	37	6	88854765	88854765	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:88854765T>A	ENST00000537554.1	-	2	3791	c.229A>T	c.(229-231)Aac>Tac	p.N77Y	CNR1_ENST00000428600.2_Missense_Mutation_p.N77Y|CNR1_ENST00000362094.5_Intron|CNR1_ENST00000369499.2_Missense_Mutation_p.N77Y|CNR1_ENST00000468898.1_Missense_Mutation_p.N44Y|CNR1_ENST00000549890.1_Missense_Mutation_p.N77Y|CNR1_ENST00000535130.1_Missense_Mutation_p.N77Y|CNR1_ENST00000369501.2_Missense_Mutation_p.N77Y|CNR1_ENST00000549716.1_Intron	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	77					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)	p.N77Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TCTGTAATGTTCACCTGGTCT	0.473																																							uc011dzq.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(229-231)AAC>TAC		cannabinoid receptor 1 isoform a	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)						82.0	81.0	81.0					6																	88854765		2203	4300	6503	SO:0001583	missense	1268				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	g.chr6:88854765T>A	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.229A>T	6.37:g.88854765T>A	ENSP00000441046:p.Asn77Tyr					CNR1_uc010kbz.2_Missense_Mutation_p.N77Y|CNR1_uc011dzr.1_Missense_Mutation_p.N77Y|CNR1_uc011dzs.1_Missense_Mutation_p.N77Y|CNR1_uc003pmq.3_Missense_Mutation_p.N77Y|CNR1_uc011dzt.1_Missense_Mutation_p.N77Y|CNR1_uc010kca.2_Missense_Mutation_p.N44Y	p.N77Y	NM_001160260	NP_001153732	P21554	CNR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.15)	2	3792	-		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)	77			Extracellular (Potential).		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	ENST00000537554.1	37	c.229A>T	CCDS5015.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.104692	0.37145	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000551417	T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.12;-1.17	5.77	5.77	0.91146	.	0.824855	0.10967	N	0.614251	D	0.83473	0.5262	L	0.55481	1.735	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.994	T	0.81573	-0.0871	10	0.54805	T	0.06	.	16.1022	0.81184	0.0:0.0:0.0:1.0	.	44;77	P21554-3;P21554	.;CNR1_HUMAN	Y	77;77;77;77;77;44;77;77	ENSP00000358513:N77Y;ENSP00000442689:N77Y;ENSP00000441046:N77Y;ENSP00000358511:N77Y;ENSP00000446819:N77Y;ENSP00000420188:N44Y;ENSP00000412192:N77Y	ENSP00000358511:N77Y	N	-	1	0	CNR1	88911484	1.000000	0.71417	0.587000	0.28692	0.093000	0.18481	7.698000	0.84413	2.205000	0.71048	0.460000	0.39030	AAC		0.473	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354204.2			15	24	0	0	0	0.000219431	0	15	24				
COQ3	51805	broad.mit.edu	37	6	99823932	99823932	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:99823932G>C	ENST00000254759.3	-	5	637	c.613C>G	c.(613-615)Ctg>Gtg	p.L205V	COQ3_ENST00000369242.1_Intron|COQ3_ENST00000479163.1_5'Flank|COQ3_ENST00000369240.1_Intron	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	205					glycerol metabolic process (GO:0006071)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity (GO:0008425)|3-demethylubiquinone-9 3-O-methyltransferase activity (GO:0008689)|hexaprenyldihydroxybenzoate methyltransferase activity (GO:0004395)|O-methyltransferase activity (GO:0008171)	p.L205V(1)		cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		ATCTCTTCCAGGGAACACACT	0.393																																							uc003ppk.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(613-615)CTG>GTG		hexaprenyldihydroxybenzoate methyltransferase							206.0	196.0	199.0					6																	99823932		2203	4300	6503	SO:0001583	missense	51805				glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity	g.chr6:99823932G>C	AF193016	CCDS5042.1	6q21	2013-05-01	2013-05-01		ENSG00000132423	ENSG00000132423	2.1.1.114		18175	protein-coding gene	gene with protein product	"""polyprenyldihydroxybenzoate methyltransferase"""	605196	"""coenzyme Q3 homolog, methyltransferase (yeast)"", ""coenzyme Q3 homolog, methyltransferase (S. cerevisiae)"""			10777520	Standard	NM_017421		Approved	bA9819.1	uc003ppk.3	Q9NZJ6	OTTHUMG00000015264	ENST00000254759.3:c.613C>G	6.37:g.99823932G>C	ENSP00000254759:p.Leu205Val						p.L205V	NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0625)	5	640	-		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)	205					B3KPX0|Q5T061|Q6P4F0|Q8IXG6|Q96BG1|Q9H0N1	Missense_Mutation	SNP	ENST00000254759.3	37	c.613C>G	CCDS5042.1	.	.	.	.	.	.	.	.	.	.	G	9.907	1.208585	0.22205	.	.	ENSG00000132423	ENST00000254759	T	0.14516	2.5	5.49	3.7	0.42460	Methyltransferase type 11 (1);	0.071295	0.64402	D	0.000019	T	0.02494	0.0076	N	0.13272	0.32	0.80722	D	1	B	0.27140	0.169	B	0.34180	0.177	T	0.30357	-0.9981	10	0.09590	T	0.72	-16.5408	6.8956	0.24255	0.1516:0.1451:0.7033:0.0	.	205	Q9NZJ6	COQ3_HUMAN	V	205	ENSP00000254759:L205V	ENSP00000254759:L205V	L	-	1	2	COQ3	99930653	1.000000	0.71417	0.995000	0.50966	0.798000	0.45092	3.050000	0.49877	1.323000	0.45263	0.561000	0.74099	CTG		0.393	COQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041602.1	NM_017421		5	172	0	0	0	3.59834e-05	0	5	172				
PHACTR2	9749	broad.mit.edu	37	6	144033228	144033228	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:144033228G>A	ENST00000427704.2	+	2	219	c.89G>A	c.(88-90)aGa>aAa	p.R30K	PHACTR2_ENST00000397980.3_Missense_Mutation_p.R41K|PHACTR2_ENST00000367582.3_Missense_Mutation_p.R41K|PHACTR2_ENST00000440869.2_Missense_Mutation_p.R41K|PHACTR2_ENST00000305766.6_Missense_Mutation_p.R30K|PHACTR2_ENST00000367584.4_Missense_Mutation_p.R98K	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	30							protein phosphatase inhibitor activity (GO:0004864)	p.R41K(1)|p.R30K(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CCCTTCAAAAGAAAGGGGAAA	0.428																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	uc003qjq.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(88-90)AGA>AAA		phosphatase and actin regulator 2 isoform 3							107.0	106.0	106.0					6																	144033228		1827	4080	5907	SO:0001583	missense	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144033228G>A	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.89G>A	6.37:g.144033228G>A	ENSP00000391763:p.Arg30Lys					PHACTR2_uc010khh.2_Missense_Mutation_p.R30K|PHACTR2_uc010khi.2_Missense_Mutation_p.R41K|PHACTR2_uc003qjr.3_Missense_Mutation_p.R41K	p.R30K	NM_014721	NP_055536	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	2	219	+			30					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	37	c.89G>A	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458978	0.84317	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582;ENST00000451827;ENST00000397980;ENST00000367583	T;T;T;T;T	0.50001	0.76;1.09;0.87;1.11;0.89	5.93	5.93	0.95920	.	0.156590	0.56097	D	0.000021	T	0.58793	0.2147	L	0.47190	1.495	0.52501	D	0.99995	D;D;D;D	0.65815	0.992;0.995;0.967;0.991	D;P;P;P	0.74674	0.984;0.795;0.718;0.629	T	0.57254	-0.7843	10	0.59425	D	0.04	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	41;30;41;30	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	K	98;30;30;41;41;41;41;41	ENSP00000356556:R98K;ENSP00000391763:R30K;ENSP00000305530:R30K;ENSP00000417038:R41K;ENSP00000356554:R41K	ENSP00000305530:R30K	R	+	2	0	PHACTR2	144074921	1.000000	0.71417	0.991000	0.47740	0.969000	0.65631	6.739000	0.74827	2.814000	0.96858	0.591000	0.81541	AGA		0.428	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		60	96	0	0	0	0.000147903	0	60	96				
STXBP5	134957	broad.mit.edu	37	6	147684611	147684611	+	Missense_Mutation	SNP	C	C	T	rs143796366		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:147684611C>T	ENST00000321680.6	+	24	2686	c.2686C>T	c.(2686-2688)Cgg>Tgg	p.R896W	STXBP5_ENST00000367481.3_Missense_Mutation_p.R860W|STXBP5_ENST00000367480.3_Missense_Mutation_p.R843W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R551W	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	896					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.R860W(1)|p.R896W(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ATTGAAAAAACGGCGGCCTGT	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		17597	0.0		0.001	False		,,,				2504	0.0						uc003qlz.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2686-2688)CGG>TGG		syntaxin binding protein 5 (tomosyn) isoform b		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	74.0	82.0	79.0		2686,2578	0.4	0.0	6	dbSNP_134	79	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	STXBP5	NM_001127715.2,NM_139244.4	101,101	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging	896/1152,860/1116	147684611	3,13003	2203	4300	6503	SO:0001583	missense	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147684611C>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2686C>T	6.37:g.147684611C>T	ENSP00000321826:p.Arg896Trp					STXBP5_uc010khz.1_Missense_Mutation_p.R860W|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Missense_Mutation_p.R551W	p.R896W	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	24	2847	+		Ovarian(120;0.0164)	896			WD 12.		Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.2686C>T	CCDS47499.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.09	3.760004	0.69763	0.0	3.49E-4	ENSG00000164506	ENST00000367479;ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882;ENST00000392291	T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76	5.69	0.365	0.16131	.	0.127261	0.53938	D	0.000051	T	0.51075	0.1653	M	0.65975	2.015	0.54753	D	0.999982	D;D;D	0.89917	1.0;0.987;1.0	D;P;D	0.85130	0.997;0.757;0.995	T	0.55805	-0.8083	10	0.87932	D	0	.	10.3362	0.43852	0.5101:0.4279:0.0:0.062	.	860;896;551	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	W	235;860;896;843;551;220	ENSP00000356451:R860W;ENSP00000321826:R896W;ENSP00000356450:R843W;ENSP00000179882:R551W;ENSP00000376112:R220W	ENSP00000179882:R551W	R	+	1	2	STXBP5	147726304	1.000000	0.71417	0.005000	0.12908	0.928000	0.56348	1.909000	0.39917	-0.250000	0.09555	0.591000	0.81541	CGG		0.438	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			11	25	0	0	0	0.00010058	0	11	25				
NUP43	348995	broad.mit.edu	37	6	150067629	150067629	+	Start_Codon_SNP	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:150067629C>G	ENST00000340413.2	-	1	79	c.3G>C	c.(1-3)atG>atC	p.M1I	PCMT1_ENST00000464889.1_5'Flank|NUP43_ENST00000460354.2_Start_Codon_SNP_p.M1I|PCMT1_ENST00000367378.1_5'Flank|NUP43_ENST00000367403.3_Missense_Mutation_p.M62I|PCMT1_ENST00000367384.2_5'Flank|NUP43_ENST00000463048.3_Intron|NUP43_ENST00000367404.4_Start_Codon_SNP_p.M1I	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	1					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|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)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)		p.M1I(1)		breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		AAATTTCCTCCATGCCGAAAG	0.567											OREG0017720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003qmz.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1-3)ATG>ATC		nucleoporin 43kDa							85.0	95.0	91.0					6																	150067629		2203	4300	6503	SO:0001582	initiator_codon_variant	348995				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr6:150067629C>G	AF514997	CCDS5218.1	6q25.1	2013-01-10			ENSG00000120253	ENSG00000120253		"""WD repeat domain containing"""	21182	protein-coding gene	gene with protein product		608141				12196509	Standard	XM_005266961		Approved	bA350J20.1, FLJ13287	uc003qmz.3	Q8NFH3	OTTHUMG00000015795	ENST00000340413.2:c.3G>C	6.37:g.150067629C>G	ENSP00000342262:p.Met1Ile		OREG0017720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1729	NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Missense_Mutation_p.M1I	p.M1I	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)	1	60	-		Ovarian(120;0.0164)	1					B4E2F0|Q9H8S0	Missense_Mutation	SNP	ENST00000340413.2	37	c.3G>C	CCDS5218.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659273	0.67586	.	.	ENSG00000120253	ENST00000340413;ENST00000460354;ENST00000367403;ENST00000367404;ENST00000543637	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	4.66	4.66	0.58398	.	0.034940	0.85682	D	0.000000	T	0.80675	0.4668	.	.	.	0.58432	D	0.999999	P;B	0.49447	0.924;0.006	P;B	0.60682	0.878;0.006	T	0.83140	-0.0109	9	0.87932	D	0	-6.7431	18.076	0.89427	0.0:1.0:0.0:0.0	.	1;1	B4E2F0;Q8NFH3	.;NUP43_HUMAN	I	1;1;62;1;1	ENSP00000342262:M1I;ENSP00000432401:M1I;ENSP00000356373:M62I;ENSP00000356374:M1I;ENSP00000438031:M1I	ENSP00000342262:M1I	M	-	3	0	NUP43	150109322	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	6.801000	0.75170	2.583000	0.87209	0.655000	0.94253	ATG		0.567	NUP43-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396947.1	NM_198887	Missense_Mutation	5	152	0	0	0	1.23904e-05	0	5	152				
PLEKHG1	57480	broad.mit.edu	37	6	151161418	151161418	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:151161418C>G	ENST00000358517.2	+	16	3755	c.3544C>G	c.(3544-3546)Cag>Gag	p.Q1182E	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.Q1182E			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1182							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q1182E(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TCACAGGTCCCAGTCATCTTC	0.468																																							uc003qny.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3544-3546)CAG>GAG		pleckstrin homology domain containing, family G							138.0	145.0	142.0					6																	151161418		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151161418C>G	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.3544C>G	6.37:g.151161418C>G	ENSP00000351318:p.Gln1182Glu					PLEKHG1_uc011eem.1_Missense_Mutation_p.Q1241E	p.Q1182E	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	17	3856	+			1182					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.3544C>G	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461514	0.63513	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.60299	0.2;0.2	5.91	5.91	0.95273	.	0.150462	0.64402	D	0.000008	T	0.48624	0.1510	M	0.66939	2.045	0.33843	D	0.63162	B;B	0.27791	0.189;0.189	B;B	0.22386	0.039;0.039	T	0.56390	-0.7987	10	0.87932	D	0	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	989;1182	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	E	1182	ENSP00000356297:Q1182E;ENSP00000351318:Q1182E	ENSP00000351318:Q1182E	Q	+	1	0	PLEKHG1	151203111	1.000000	0.71417	0.996000	0.52242	0.891000	0.51852	4.564000	0.60830	2.802000	0.96397	0.655000	0.94253	CAG		0.468	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			6	204	0	0	0	3.59834e-05	0	6	204				
AKAP12	9590	broad.mit.edu	37	6	151671920	151671920	+	Silent	SNP	C	C	G	rs140093591	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:151671920C>G	ENST00000253332.1	+	3	2583	c.2394C>G	c.(2392-2394)ccC>ccG	p.P798P	AKAP12_ENST00000354675.6_Silent_p.P700P|AKAP12_ENST00000359755.5_Silent_p.P693P|AKAP12_ENST00000402676.2_Silent_p.P798P			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	798	AKAP 3.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)	p.P798P(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ACACTGAACCCGGTAAAGAAG	0.463																																					Melanoma(141;1616 1805 10049 24534 51979)	Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(2392-2394)CCC>CCG		A kinase (PRKA) anchor protein 12 isoform 1							47.0	55.0	52.0					6																	151671920		2203	4300	6503	SO:0001819	synonymous_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671920C>G	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2394C>G	6.37:g.151671920C>G						AKAP12_uc003qoe.2_Silent_p.P798P|AKAP12_uc003qof.2_Silent_p.P700P|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.P693P	p.P798P	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2634	+		Ovarian(120;0.125)	798			AKAP 3.		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	c.2394C>G	CCDS5229.1																																																																																				0.463	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			4	89	0	0	0	0.00024832	0	4	89				
MAP3K4	4216	broad.mit.edu	37	6	161532908	161532908	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:161532908G>C	ENST00000392142.4	+	24	4585	c.4437G>C	c.(4435-4437)ctG>ctC	p.L1479L	MAP3K4_ENST00000366919.2_Silent_p.L1429L|MAP3K4_ENST00000348824.7_Silent_p.L1425L|MAP3K4_ENST00000366920.2_Silent_p.L1475L	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1479	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.L1478L(1)|p.L1479L(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TAATCAAACTGGGAGATTTTG	0.458																																							uc003qtn.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(3)|skin(2)|stomach(1)	9						c.(4435-4437)CTG>CTC		mitogen-activated protein kinase kinase kinase 4							206.0	192.0	197.0					6																	161532908		2203	4300	6503	SO:0001819	synonymous_variant	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161532908G>C	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4437G>C	6.37:g.161532908G>C						MAP3K4_uc003qto.2_Silent_p.L1429L|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Silent_p.L932L|MAP3K4_uc003qtp.2_Silent_p.L415L|MAP3K4_uc003qtq.2_Silent_p.L168L	p.L1479L	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	24	4579	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1479			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	c.4437G>C	CCDS34565.1																																																																																				0.458	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			7	173	0	0	0	0.000157383	0	7	173				
THBS2	7058	broad.mit.edu	37	6	169637803	169637803	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr6:169637803C>A	ENST00000366787.3	-	9	1466	c.1217G>T	c.(1216-1218)cGg>cTg	p.R406L	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	406	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.R406L(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)		GTCACAGGACCGGCCTCTCTG	0.652																																					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.(1216-1218)CGG>CTG		thrombospondin 2 precursor							87.0	73.0	78.0					6																	169637803		2203	4299	6502	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169637803C>A		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.1217G>T	6.37:g.169637803C>A	ENSP00000355751:p.Arg406Leu						p.R406L	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	1465	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	406			TSP type-1 1.		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.1217G>T	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	c	24.3	4.519322	0.85495	.	.	ENSG00000186340	ENST00000366787	T	0.65178	-0.14	4.75	4.75	0.60458	.	0.000000	0.36815	U	0.002398	D	0.85801	0.5781	H	0.98295	4.195	0.48511	D	0.999665	D	0.76494	0.999	D	0.74348	0.983	D	0.91925	0.5550	10	0.87932	D	0	-52.5429	17.77	0.88489	0.0:1.0:0.0:0.0	.	406	P35442	TSP2_HUMAN	L	406	ENSP00000355751:R406L	ENSP00000355751:R406L	R	-	2	0	THBS2	169379728	0.994000	0.37717	0.367000	0.25926	0.608000	0.37181	7.291000	0.78721	2.181000	0.69327	0.552000	0.68991	CGG		0.652	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		16	24	1	0	3.41278e-10	5.01169e-05	7.78771e-09	16	24				
AMZ1	155185	broad.mit.edu	37	7	2749348	2749348	+	Silent	SNP	G	G	A	rs150265717		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:2749348G>A	ENST00000312371.4	+	6	1214	c.846G>A	c.(844-846)gcG>gcA	p.A282A	AMZ1_ENST00000407112.1_Missense_Mutation_p.A226T|AMZ1_ENST00000489665.1_3'UTR	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	282							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A282A(1)		breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		TGCAGGGTGCGCTCAGCCTGG	0.667											OREG0017838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003smr.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(844-846)GCG>GCA		archaelysin family metallopeptidase 1		G		0,4406		0,0,2203	49.0	44.0	46.0		846	-8.3	0.0	7	dbSNP_134	46	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	AMZ1	NM_133463.1		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		282/499	2749348	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	155185						metallopeptidase activity|zinc ion binding	g.chr7:2749348G>A	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.846G>A	7.37:g.2749348G>A			OREG0017838	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	605	AMZ1_uc003sms.1_Missense_Mutation_p.A226T|AMZ1_uc011jwa.1_Silent_p.A31A	p.A282A	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	6	1207	+		Ovarian(82;0.0779)	282					B3KRS0|Q8TF51	Silent	SNP	ENST00000312371.4	37	c.846G>A	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892512	0.33442	0.0	1.16E-4	ENSG00000174945	ENST00000407112	T	0.37058	1.22	5.0	-8.28	0.01013	.	0.289562	0.32624	N	0.005846	T	0.13970	0.0338	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.24404	-1.0161	9	0.12766	T	0.61	-13.2846	9.9896	0.41863	0.4043:0.3588:0.2369:0.0	.	226	B3KRS0	.	T	226	ENSP00000386020:A226T	ENSP00000386020:A226T	A	+	1	0	AMZ1	2715874	0.000000	0.05858	0.017000	0.16124	0.030000	0.12068	-2.991000	0.00657	-1.560000	0.01686	-1.263000	0.01449	GCT		0.667	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		8	17	0	0	0	0.000157383	0	8	17				
RNF216	54476	broad.mit.edu	37	7	5662579	5662579	+	Missense_Mutation	SNP	C	C	G	rs150725128		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:5662579C>G	ENST00000425013.2	-	17	2737	c.2513G>C	c.(2512-2514)cGg>cCg	p.R838P	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.R895P	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	838	Pro-rich.				apoptotic process (GO:0006915)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of defense response to virus by host (GO:0050691)|regulation of interferon-beta production (GO:0032648)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.R895P(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ATAGTTGACCCGCACGTTGGG	0.642																																							uc003soy.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(2512-2514)CGG>CCG		ring finger protein 216 isoform b							103.0	109.0	107.0					7																	5662579		2203	4300	6503	SO:0001583	missense	54476				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding	g.chr7:5662579C>G	AY062174	CCDS34594.1, CCDS34595.1	7p22.1	2014-02-12	2007-08-20		ENSG00000011275	ENSG00000011275		"""RING-type (C3HC4) zinc fingers"""	21698	protein-coding gene	gene with protein product		609948					Standard	NM_207111		Approved	TRIAD3, UBCE7IP1, ZIN	uc003sox.2	Q9NWF9	OTTHUMG00000155500	ENST00000425013.2:c.2513G>C	7.37:g.5662579C>G	ENSP00000404602:p.Arg838Pro					RNF216_uc010ksz.1_Missense_Mutation_p.R460P|RNF216_uc010kta.1_Missense_Mutation_p.R460P|RNF216_uc011jwj.1_Missense_Mutation_p.R460P|RNF216_uc003sox.1_Missense_Mutation_p.R895P	p.R838P	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)	17	2703	-		Ovarian(82;0.07)	838			Pro-rich.		Q6Y691|Q75ML7|Q7Z2H7|Q7Z7C1|Q8NHW7|Q9NYT1	Missense_Mutation	SNP	ENST00000425013.2	37	c.2513G>C	CCDS34595.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881818	0.51908	.	.	ENSG00000011275	ENST00000425013;ENST00000389902;ENST00000458425	T;T	0.48201	0.87;0.82	4.89	4.89	0.63831	.	0.065480	0.64402	D	0.000013	T	0.44008	0.1273	L	0.38531	1.155	0.45490	D	0.998453	B;B	0.26258	0.059;0.145	B;B	0.33295	0.054;0.161	T	0.35201	-0.9798	10	0.38643	T	0.18	-14.9668	16.9527	0.86250	0.0:1.0:0.0:0.0	.	838;895	Q9NWF9;Q9NWF9-1	RN216_HUMAN;.	P	838;895;650	ENSP00000404602:R838P;ENSP00000374552:R895P	ENSP00000374552:R895P	R	-	2	0	RNF216	5629105	0.997000	0.39634	0.139000	0.22197	0.978000	0.69477	3.876000	0.56115	2.411000	0.81874	0.561000	0.74099	CGG		0.642	RNF216-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340374.1	NM_207111		5	108	0	0	0	1.23904e-05	0	5	108				
ARL4A	10124	broad.mit.edu	37	7	12727889	12727889	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:12727889G>C	ENST00000396663.1	+	2	492	c.10G>C	c.(10-12)Ggg>Cgg	p.G4R	ARL4A_ENST00000356797.3_Missense_Mutation_p.G4R|ARL4A_ENST00000396664.2_Missense_Mutation_p.G4R|ARL4A_ENST00000396662.1_Missense_Mutation_p.G4R|ARL4A_ENST00000404894.1_Missense_Mutation_p.G4R	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	4					brown fat cell differentiation (GO:0050873)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.G4R(1)		NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		AATGGGGAATGGGCTGTCAGA	0.428																																							uc003ssp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(10-12)GGG>CGG		ADP-ribosylation factor-like 4A							127.0	120.0	123.0					7																	12727889		2203	4300	6503	SO:0001583	missense	10124				small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding	g.chr7:12727889G>C	U73960	CCDS5359.1	7p21.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000122644	ENSG00000122644		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	695	protein-coding gene	gene with protein product		604786	"""ADP-ribosylation factor-like 4"""	ARL4			Standard	NM_212460		Approved		uc003ssq.3	P40617	OTTHUMG00000023374	ENST00000396663.1:c.10G>C	7.37:g.12727889G>C	ENSP00000379898:p.Gly4Arg					ARL4A_uc003ssq.2_Missense_Mutation_p.G4R|ARL4A_uc003ssr.2_Missense_Mutation_p.G4R|ARL4A_uc003sss.2_Missense_Mutation_p.G4R	p.G4R	NM_001037164	NP_001032241	P40617	ARL4A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.176)	2	287	+			4					A4D119|P80418|Q49AF5	Missense_Mutation	SNP	ENST00000396663.1	37	c.10G>C	CCDS5359.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239805	0.22711	.	.	ENSG00000122644	ENST00000396662;ENST00000356797;ENST00000396664;ENST00000439721;ENST00000396663;ENST00000404894	T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;0.98;-0.37;-0.37	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.58366	0.2117	L	0.33485	1.01	0.80722	D	1	B	0.21225	0.053	B	0.19666	0.026	T	0.52064	-0.8625	10	0.29301	T	0.29	.	18.9079	0.92471	0.0:0.0:1.0:0.0	.	4	P40617	ARL4A_HUMAN	R	4	ENSP00000379897:G4R;ENSP00000349250:G4R;ENSP00000379899:G4R;ENSP00000397651:G4R;ENSP00000379898:G4R;ENSP00000385236:G4R	ENSP00000349250:G4R	G	+	1	0	ARL4A	12694414	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	9.336000	0.96533	2.768000	0.95171	0.655000	0.94253	GGG		0.428	ARL4A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326036.1	NM_005738		5	149	0	0	0	3.59834e-05	0	5	149				
SNX13	23161	broad.mit.edu	37	7	17843055	17843055	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:17843055T>A	ENST00000409389.1	-	21	2418	c.2246A>T	c.(2245-2247)cAa>cTa	p.Q749L	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.Q738L			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	749					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.Q738L(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AAAAAATGATTGCTTTATGTC	0.338																																							uc003stw.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|kidney(1)	3						c.(2245-2247)CAA>CTA		SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;							94.0	86.0	88.0					7																	17843055		1843	4089	5932	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17843055T>A	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2246A>T	7.37:g.17843055T>A	ENSP00000386705:p.Gln749Leu					SNX13_uc003stv.2_Missense_Mutation_p.Q738L|SNX13_uc010kuc.2_Missense_Mutation_p.Q535L|SNX13_uc010kub.2_Missense_Mutation_p.Q144L	p.Q749L			Q9Y5W8	SNX13_HUMAN			21	2459	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		749					B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.2246A>T		.	.	.	.	.	.	.	.	.	.	T	17.84	3.487163	0.63962	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.18338	2.22;2.45	5.77	5.77	0.91146	.	0.048960	0.85682	D	0.000000	T	0.17109	0.0411	L	0.40543	1.245	0.80722	D	1	B;B;B	0.23937	0.094;0.006;0.082	B;B;B	0.21917	0.023;0.022;0.037	T	0.02789	-1.1110	10	0.32370	T	0.25	-12.0983	16.099	0.81152	0.0:0.0:0.0:1.0	.	535;749;738	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	L	749;738;786	ENSP00000386705:Q749L;ENSP00000398789:Q738L	ENSP00000242044:Q786L	Q	-	2	0	SNX13	17809580	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.203000	0.70933	0.533000	0.62120	CAA		0.338	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		12	22	0	0	0	0.000219431	0	12	22				
SP8	221833	broad.mit.edu	37	7	20824767	20824767	+	Silent	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:20824767G>A	ENST00000361443.4	-	3	852	c.615C>T	c.(613-615)gcC>gcT	p.A205A	SP8_ENST00000418710.2_Silent_p.A223A	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	205					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|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.A223A(1)|p.A205A(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						TGGAGGCGCCGGCCGAGCCCA	0.746																																							uc003suy.2		NA																	2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(613-615)GCC>GCT		Sp8 transcription factor isoform 2							5.0	6.0	6.0					7																	20824767		1568	3408	4976	SO:0001819	synonymous_variant	221833				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:20824767G>A		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.615C>T	7.37:g.20824767G>A						SP8_uc003suz.2_Silent_p.A223A	p.A205A	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN			3	856	-			205					Q7Z615|Q7Z616|Q96MJ1	Silent	SNP	ENST00000361443.4	37	c.615C>T	CCDS5372.1																																																																																				0.746	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326904.2			9	3	0	0	0	3.86212e-05	0	9	3				
HOXA3	3200	broad.mit.edu	37	7	27147548	27147548	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:27147548G>A	ENST00000396352.4	-	3	1517	c.1318C>T	c.(1318-1320)Ctc>Ttc	p.L440F	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.L440F|HOXA3_ENST00000521401.1_5'Flank	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	440					angiogenesis (GO:0001525)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L440F(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AGGTGGGTGAGCTTGGGTGCT	0.572																																					Esophageal Squamous(136;1368 1743 5685 7935 50360)	Esophageal Squamous(136;1368 1743 5685 7935 50360)	uc011jzl.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1318-1320)CTC>TTC		homeobox A3 isoform a							48.0	57.0	54.0					7																	27147548		2203	4300	6503	SO:0001583	missense	3200				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27147548G>A		CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997		"""Homeoboxes / ANTP class : HOXL subclass"""	5104	protein-coding gene	gene with protein product		142954	"""homeo box A3"""	HOX1E, HOX1		1973146, 1358459	Standard	XM_005249730		Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.1318C>T	7.37:g.27147548G>A	ENSP00000379640:p.Leu440Phe					HOXA3_uc011jzk.1_Missense_Mutation_p.L282F|HOXA3_uc003syk.2_Missense_Mutation_p.L440F	p.L440F	NM_030661	NP_109377	O43365	HXA3_HUMAN			3	1518	-			440					A4D181	Missense_Mutation	SNP	ENST00000396352.4	37	c.1318C>T	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547549	0.45383	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.93811	-3.29;-3.29	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.96460	0.8845	M	0.86178	2.8	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.96368	0.9271	10	0.87932	D	0	.	10.2687	0.43470	0.1459:0.0:0.8541:0.0	.	440	O43365	HXA3_HUMAN	F	440;440;282	ENSP00000379640:L440F;ENSP00000324884:L440F	ENSP00000324884:L440F	L	-	1	0	HOXA3	27114073	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.482000	0.73613	2.699000	0.92147	0.591000	0.81541	CTC		0.572	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358708.2			29	50	0	0	0	8.91981e-05	0	29	50				
TAX1BP1	8887	broad.mit.edu	37	7	27827104	27827104	+	Nonsense_Mutation	SNP	T	T	A	rs141015886		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:27827104T>A	ENST00000396319.2	+	8	1008	c.920T>A	c.(919-921)tTa>tAa	p.L307*	TAX1BP1_ENST00000543117.1_Nonsense_Mutation_p.L307*|TAX1BP1_ENST00000409980.1_Nonsense_Mutation_p.L307*|TAX1BP1_ENST00000433216.2_Nonsense_Mutation_p.L150*|TAX1BP1_ENST00000265393.6_Nonsense_Mutation_p.L307*	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	307			L -> I (in dbSNP:rs11540483). {ECO:0000269|PubMed:15489334}.		apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)	p.L307*(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TTAAAAAATTTAGATGGGAAC	0.348																																							uc003szl.2		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(919-921)TTA>TAA		Tax1 (human T-cell leukemia virus type I)							73.0	78.0	76.0					7																	27827104		2203	4300	6503	SO:0001587	stop_gained	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27827104T>A	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.920T>A	7.37:g.27827104T>A	ENSP00000379612:p.Leu307*					TAX1BP1_uc011jzo.1_Nonsense_Mutation_p.L307*|TAX1BP1_uc003szk.2_Nonsense_Mutation_p.L307*|TAX1BP1_uc011jzp.1_Nonsense_Mutation_p.L150*	p.L307*	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		8	1078	+			307			Potential.		B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Nonsense_Mutation	SNP	ENST00000396319.2	37	c.920T>A	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	T	38	6.921180	0.97936	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319	.	.	.	5.98	5.98	0.97165	.	0.170216	0.27500	N	0.019093	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-1.4847	16.4781	0.84144	0.0:0.0:0.0:1.0	.	.	.	.	X	307;307;307;150;307	.	ENSP00000265393:L307X	L	+	2	0	TAX1BP1	27793629	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.111000	0.77077	2.288000	0.76882	0.528000	0.53228	TTA		0.348	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	NM_006024		57	70	0	0	0	0.000147903	0	57	70				
NEUROD6	63974	broad.mit.edu	37	7	31378296	31378296	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:31378296G>T	ENST00000297142.3	-	2	909	c.587C>A	c.(586-588)gCt>gAt	p.A196D		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	196					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.A196D(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GTGGTGTGCAGCCTCCCCACC	0.552																																							uc003tch.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(586-588)GCT>GAT		neurogenic differentiation 6							128.0	93.0	105.0					7																	31378296		2203	4300	6503	SO:0001583	missense	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378296G>T	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.587C>A	7.37:g.31378296G>T	ENSP00000297142:p.Ala196Asp						p.A196D	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	940	-			196					Q548T9|Q9H3H6	Missense_Mutation	SNP	ENST00000297142.3	37	c.587C>A	CCDS5434.1	.	.	.	.	.	.	.	.	.	.	G	1.502	-0.551852	0.03996	.	.	ENSG00000164600	ENST00000297142	T	0.63913	-0.07	5.02	3.05	0.35203	Neurogenic differentiation factor, domain of unknown function (1);	0.370724	0.29972	N	0.010732	T	0.48995	0.1531	L	0.29908	0.895	0.34043	D	0.655177	B	0.16396	0.017	B	0.26770	0.073	T	0.55909	-0.8066	10	0.30078	T	0.28	-15.0404	11.4379	0.50078	0.0:0.2184:0.6633:0.1183	.	196	Q96NK8	NDF6_HUMAN	D	196	ENSP00000297142:A196D	ENSP00000297142:A196D	A	-	2	0	NEUROD6	31344821	1.000000	0.71417	0.989000	0.46669	0.940000	0.58332	3.891000	0.56227	1.217000	0.43442	-0.188000	0.12872	GCT		0.552	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		38	49	1	0	2.05212e-20	0.000191422	5.10618e-19	38	49				
FIGNL1	63979	broad.mit.edu	37	7	50513930	50513930	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:50513930C>A	ENST00000419119.1	-	2	2609	c.1056G>T	c.(1054-1056)caG>caT	p.Q352H	FIGNL1_ENST00000433017.1_Missense_Mutation_p.Q352H|FIGNL1_ENST00000395556.2_Missense_Mutation_p.Q352H|FIGNL1_ENST00000356889.4_Missense_Mutation_p.Q352H			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	352					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.Q352H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TTCCTCCATTCTGCTCTCCCC	0.468																																							uc003tpc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1054-1056)CAG>CAT		fidgetin-like 1							91.0	93.0	92.0					7																	50513930		2203	4300	6503	SO:0001583	missense	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50513930C>A	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1056G>T	7.37:g.50513930C>A	ENSP00000410811:p.Gln352His					FIGNL1_uc003tpb.2_Missense_Mutation_p.Q241H|FIGNL1_uc003tpd.2_Missense_Mutation_p.Q352H|FIGNL1_uc003tpe.2_Missense_Mutation_p.Q352H|FIGNL1_uc010kyy.2_Missense_Mutation_p.Q352H	p.Q352H	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN			4	1433	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	352					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	c.1056G>T	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	C	9.685	1.150319	0.21371	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02	5.87	4.99	0.66335	.	1.343700	0.04403	N	0.364523	D	0.85647	0.5745	N	0.08118	0	0.19575	N	0.999963	B	0.29037	0.231	B	0.33799	0.17	T	0.75502	-0.3295	10	0.29301	T	0.29	0.1944	8.8955	0.35460	0.1517:0.768:0.0:0.0804	.	352	Q6PIW4	FIGL1_HUMAN	H	352	ENSP00000349356:Q352H;ENSP00000378924:Q352H;ENSP00000399997:Q352H;ENSP00000410811:Q352H	ENSP00000349356:Q352H	Q	-	3	2	FIGNL1	50481424	0.000000	0.05858	0.021000	0.16686	0.995000	0.86356	0.002000	0.13061	1.461000	0.47929	0.650000	0.86243	CAG		0.468	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		44	74	1	0	5.20006e-24	0.000106405	1.31773e-22	44	74				
GUSB	2990	broad.mit.edu	37	7	65426034	65426034	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:65426034C>G	ENST00000304895.4	-	12	1936	c.1806G>C	c.(1804-1806)ctG>ctC	p.L602L	GUSB_ENST00000421103.1_Silent_p.L456L|GUSB_ENST00000345660.6_Silent_p.L551L	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	602					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)	p.L602L(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TTTTATTCCCCAGCACTCTCG	0.448																																							uc003tun.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1804-1806)CTG>CTC		glucuronidase, beta precursor							162.0	158.0	159.0					7																	65426034		2203	4300	6503	SO:0001819	synonymous_variant	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65426034C>G	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1806G>C	7.37:g.65426034C>G						GUSB_uc011kdt.1_Silent_p.L456L	p.L602L	NM_000181	NP_000172	P08236	BGLR_HUMAN			12	1882	-			602					B4E1F6|E9PCV0|Q549U0|Q96CL9	Silent	SNP	ENST00000304895.4	37	c.1806G>C	CCDS5530.1																																																																																				0.448	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181		6	228	0	0	0	3.59834e-05	0	6	228				
POM121C	100101267	broad.mit.edu	37	7	75053400	75053400	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:75053400G>T	ENST00000257665.5	-	10	1705	c.1706C>A	c.(1705-1707)cCa>cAa	p.P569Q	POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000453279.2_Missense_Mutation_p.P327Q			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	569	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)		p.P327Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GTTGGTGCTTGGGGCCAGGAG	0.607																																							uc003udk.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(979-981)CCA>CAA		POM121 membrane glycoprotein (rat)-like							126.0	142.0	136.0					7																	75053400		2203	4300	6503	SO:0001583	missense	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75053400G>T		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.1706C>A	7.37:g.75053400G>T	ENSP00000257665:p.Pro569Gln						p.P327Q	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN			12	1865	-			569			Pore side (Potential).		O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	ENST00000257665.5	37	c.980C>A		.	.	.	.	.	.	.	.	.	.	G	12.63	1.996283	0.35226	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.24151	3.24;1.87	3.57	3.57	0.40892	.	0.372159	0.19716	N	0.107684	T	0.38692	0.1050	L	0.52266	1.64	0.09310	N	1	D	0.71674	0.998	D	0.69142	0.962	T	0.12578	-1.0542	10	0.20519	T	0.43	.	11.0215	0.47720	0.0:0.0:1.0:0.0	.	569	A8CG34	P121C_HUMAN	Q	569;327	ENSP00000257665:P569Q;ENSP00000414208:P327Q	ENSP00000257665:P569Q	P	-	2	0	POM121C	74891336	0.183000	0.23186	0.023000	0.16930	0.148000	0.21650	4.471000	0.60182	1.717000	0.51406	0.195000	0.17529	CCA		0.607	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		9	168	1	0	1.58986e-06	3.86212e-05	3.50024e-05	9	168				
SEMA3C	10512	broad.mit.edu	37	7	80387660	80387660	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:80387660G>T	ENST00000265361.3	-	15	2191	c.1630C>A	c.(1630-1632)Cca>Aca	p.P544T	SEMA3C_ENST00000544525.1_Missense_Mutation_p.P562T|SEMA3C_ENST00000419255.2_Missense_Mutation_p.P544T	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	544					axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.P544T(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTCCCAGTTGGGTAGAATCTG	0.502																																							uc003uhj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1630-1632)CCA>ACA		semaphorin 3C precursor							129.0	120.0	123.0					7																	80387660		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80387660G>T	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1630C>A	7.37:g.80387660G>T	ENSP00000265361:p.Pro544Thr					SEMA3C_uc011kgw.1_Missense_Mutation_p.P562T	p.P544T	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			15	2192	-			544					B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1630C>A	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781213	0.90282	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.21543	2.0;2.0;2.0	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.36826	0.0981	M	0.62088	1.915	0.80722	D	1	D;P	0.54772	0.968;0.945	P;P	0.51135	0.66;0.459	T	0.05989	-1.0852	10	0.54805	T	0.06	.	19.6959	0.96026	0.0:0.0:1.0:0.0	.	562;544	F5H1Z7;Q99985	.;SEM3C_HUMAN	T	544;544;562	ENSP00000265361:P544T;ENSP00000411193:P544T;ENSP00000445649:P562T	ENSP00000265361:P544T	P	-	1	0	SEMA3C	80225596	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.799000	0.99117	2.729000	0.93468	0.467000	0.42956	CCA		0.502	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		36	55	1	0	9.62906e-15	0.000228196	2.28048e-13	36	55				
HGF	3082	broad.mit.edu	37	7	81372699	81372699	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:81372699G>C	ENST00000222390.5	-	7	1061	c.835C>G	c.(835-837)Cgc>Ggc	p.R279G	HGF_ENST00000457544.2_Missense_Mutation_p.R274G|HGF_ENST00000444829.2_Missense_Mutation_p.R279G|HGF_ENST00000453411.1_Missense_Mutation_p.R274G	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	279	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.R279G(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TACTCCCAGCGGGTGTGAGGG	0.473																																							uc003uhl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(835-837)CGC>GGC		hepatocyte growth factor isoform 1							101.0	90.0	94.0					7																	81372699		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81372699G>C		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.835C>G	7.37:g.81372699G>C	ENSP00000222390:p.Arg279Gly					HGF_uc003uhm.2_Missense_Mutation_p.R274G|HGF_uc003uhn.1_Missense_Mutation_p.R279G|HGF_uc003uho.1_Missense_Mutation_p.R274G	p.R279G	NM_000601	NP_000592	P14210	HGF_HUMAN			7	1000	-			279			Kringle 2.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.835C>G	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272126	0.59649	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.75	5.75	0.90469	Kringle (5);Kringle-like fold (1);	0.048214	0.85682	D	0.000000	T	0.69097	0.3073	M	0.74389	2.26	0.80722	D	1	B;B;B;B	0.29612	0.008;0.079;0.251;0.097	B;B;B;B	0.25506	0.02;0.038;0.061;0.044	T	0.67719	-0.5598	10	0.46703	T	0.11	.	19.9474	0.97186	0.0:0.0:1.0:0.0	.	274;279;274;279	P14210-5;P14210-2;P14210-3;P14210	.;.;.;HGF_HUMAN	G	279;274;279;274;279	ENSP00000222390:R279G;ENSP00000391238:R274G;ENSP00000389854:R279G;ENSP00000408270:R274G	ENSP00000222390:R279G	R	-	1	0	HGF	81210635	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.061000	0.64319	2.724000	0.93272	0.655000	0.94253	CGC		0.473	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		34	41	0	0	0	0.000109025	0	34	41				
PCLO	27445	broad.mit.edu	37	7	82544898	82544899	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:82544898_82544899CC>AA	ENST00000333891.9	-	7	12740_12741	c.12403_12404GG>TT	c.(12403-12405)GGg>TTg	p.G4135L	PCLO_ENST00000437081.1_Missense_Mutation_p.G855L|PCLO_ENST00000423517.2_Missense_Mutation_p.G4135L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.G4135L(2)		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						GCTCTCTGTCCCTCTACGAAAT	0.406																																							uc003uhx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)	7						c.(12403-12405)GGG>TTG		piccolo isoform 1																																				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.chr7:82544898_82544899CC>AA	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.12403_12404delinsAA	7.37:g.82544898_82544899delinsAA	ENSP00000334319:p.Gly4135Leu					PCLO_uc003uhv.2_Missense_Mutation_p.G4135L|PCLO_uc010lec.2_Missense_Mutation_p.G1100L	p.G4135L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			7	12692_12693	-			4066						Missense_Mutation	DNP	ENST00000333891.9	37	c.12403_12404GG>TT	CCDS47630.1																																																																																				0.406	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		8	149	0	0	0	6.4e-05	0	8	149				
CROT	54677	broad.mit.edu	37	7	87022321	87022321	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:87022321G>C	ENST00000331536.3	+	17	1841	c.1656G>C	c.(1654-1656)caG>caC	p.Q552H	CROT_ENST00000442291.1_Missense_Mutation_p.Q552H|CROT_ENST00000419147.2_Missense_Mutation_p.Q580H	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	552					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.Q552H(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TACGAGTCCAGGGAGTGGTAG	0.418																																							uc003uit.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(1654-1656)CAG>CAC		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						199.0	196.0	197.0					7																	87022321		2203	4300	6503	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:87022321G>C		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.1656G>C	7.37:g.87022321G>C	ENSP00000331981:p.Gln552His					CROT_uc003uiu.2_Missense_Mutation_p.Q580H	p.Q552H	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			17	1901	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		552					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.1656G>C	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	9.819	1.185307	0.21870	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	T;T;T	0.41758	0.99;0.99;0.99	6.17	-0.147	0.13428	.	0.566392	0.19644	N	0.109391	T	0.15305	0.0369	N	0.10733	0.035	0.34161	D	0.668631	B;B	0.14012	0.001;0.009	B;B	0.12837	0.006;0.008	T	0.11494	-1.0585	10	0.15066	T	0.55	-5.7265	2.0426	0.03553	0.2542:0.1726:0.4386:0.1346	.	580;552	E7EQF2;Q9UKG9	.;OCTC_HUMAN	H	580;552;552	ENSP00000413575:Q580H;ENSP00000331981:Q552H;ENSP00000411983:Q552H	ENSP00000331981:Q552H	Q	+	3	2	CROT	86860257	0.760000	0.28428	0.963000	0.40424	0.985000	0.73830	0.350000	0.20079	0.188000	0.20168	0.655000	0.94253	CAG		0.418	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		5	197	0	0	0	1.23904e-05	0	5	197				
ABCB4	5244	broad.mit.edu	37	7	87082321	87082321	+	Nonsense_Mutation	SNP	G	G	A	rs377160065		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:87082321G>A	ENST00000265723.4	-	6	586	c.475C>T	c.(475-477)Cga>Tga	p.R159*	ABCB4_ENST00000358400.3_Nonsense_Mutation_p.R159*|ABCB4_ENST00000545634.1_Nonsense_Mutation_p.R159*|ABCB4_ENST00000359206.3_Nonsense_Mutation_p.R159*|ABCB4_ENST00000453593.1_Nonsense_Mutation_p.R159*	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	159	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.R159*(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)	ATTTCCTGTCGTAGAATAGCA	0.393																																							uc003uiv.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(1)|pancreas(1)	6	GRCh37	CM075939	ABCB4	M		c.(475-477)CGA>TGA		ATP-binding cassette, subfamily B, member 4		G	stop/ARG,stop/ARG,stop/ARG	0,4406		0,0,2203	122.0	110.0	114.0		475,475,475	1.6	1.0	7		114	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained,stop-gained,stop-gained	ABCB4	NM_000443.3,NM_018849.2,NM_018850.2	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	159/1280,159/1287,159/1233	87082321	1,13005	2203	4300	6503	SO:0001587	stop_gained	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.chr7:87082321G>A	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.475C>T	7.37:g.87082321G>A	ENSP00000265723:p.Arg159*					ABCB4_uc003uiw.1_Nonsense_Mutation_p.R159*|ABCB4_uc003uix.1_Nonsense_Mutation_p.R159*|ABCB4_uc003uiy.2_Nonsense_Mutation_p.R159*	p.R159*	NM_018849	NP_061337	P21439	MDR3_HUMAN			6	551	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		159			ABC transmembrane type-1 1.|Cytoplasmic (By similarity).		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Nonsense_Mutation	SNP	ENST00000265723.4	37	c.475C>T	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434667	0.83885	0.0	1.16E-4	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	.	.	.	5.76	1.58	0.23477	.	0.256188	0.39341	N	0.001388	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7051	6.6402	0.22904	0.1383:0.0:0.3894:0.4722	.	.	.	.	X	159	.	ENSP00000265723:R159X	R	-	1	2	ABCB4	86920257	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	2.477000	0.45180	0.312000	0.23038	0.591000	0.81541	CGA		0.393	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		40	70	0	0	0	0.000319135	0	40	70				
CFAP69	79846	broad.mit.edu	37	7	89929315	89929315	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:89929315G>T	ENST00000389297.4	+	17	2243	c.1992G>T	c.(1990-1992)ttG>ttT	p.L664F	C7orf63_ENST00000497910.1_Missense_Mutation_p.L646F|C7orf63_ENST00000316089.8_Missense_Mutation_p.L664F	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		664								p.L664F(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TAATTAAATTGTGGAGAAAGG	0.338																																							uc010lep.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1990-1992)TTG>TTT		hypothetical protein LOC79846 isoform 1							77.0	77.0	77.0					7																	89929315		1818	4084	5902	SO:0001583	missense	79846						binding	g.chr7:89929315G>T																												ENST00000389297.4:c.1992G>T	7.37:g.89929315G>T	ENSP00000373948:p.Leu664Phe					C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_Missense_Mutation_p.L339F|C7orf63_uc011khj.1_Missense_Mutation_p.L646F|C7orf63_uc011khk.1_Missense_Mutation_p.L226F	p.L664F	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN			17	2243	+			664					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	c.1992G>T	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670854	0.67814	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170;ENST00000449577	T;T;T;T;T	0.57107	0.42;0.42;0.42;1.78;0.42	5.81	2.96	0.34315	Armadillo-type fold (1);	0.076947	0.53938	D	0.000060	T	0.68842	0.3045	M	0.78049	2.395	0.36732	D	0.88175	D;D;D	0.76494	0.991;0.999;0.997	D;D;D	0.72075	0.965;0.976;0.94	T	0.73353	-0.4009	10	0.72032	D	0.01	-7.6936	9.4688	0.38829	0.3201:0.0:0.6799:0.0	.	646;664;664	A5D8W1-5;A5D8W1;A5D8W1-2	.;CG063_HUMAN;.	F	664;664;646;514;247	ENSP00000373948:L664F;ENSP00000321753:L664F;ENSP00000419549:L646F;ENSP00000392365:L514F;ENSP00000391571:L247F	ENSP00000321753:L664F	L	+	3	2	C7orf63	89767251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.796000	0.26986	0.335000	0.23614	0.655000	0.94253	TTG		0.338	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			31	33	1	0	2.85442e-18	0.000339439	6.98875e-17	31	33				
ANKIB1	54467	broad.mit.edu	37	7	92021572	92021572	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:92021572G>C	ENST00000265742.3	+	17	2625	c.2249G>C	c.(2248-2250)tGg>tCg	p.W750S		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	750							zinc ion binding (GO:0008270)	p.W750S(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGTGGAACATGGGATTGGGAA	0.338																																							uc003ulw.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(2248-2250)TGG>TCG		ankyrin repeat and IBR domain containing 1							366.0	354.0	357.0					7																	92021572		1831	4087	5918	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92021572G>C	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2249G>C	7.37:g.92021572G>C	ENSP00000265742:p.Trp750Ser					ANKIB1_uc010lew.1_Intron	p.W750S	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		17	2625	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		750					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.2249G>C	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335208	0.81801	.	.	ENSG00000001629	ENST00000265742	T	0.27557	1.66	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.46219	-0.9207	10	0.87932	D	0	.	19.2578	0.93952	0.0:0.0:1.0:0.0	.	750	Q9P2G1	AKIB1_HUMAN	S	750	ENSP00000265742:W750S	ENSP00000265742:W750S	W	+	2	0	ANKIB1	91859508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.137000	0.71710	2.706000	0.92434	0.563000	0.77884	TGG		0.338	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			7	470	0	0	0	0.000274275	0	7	470				
EPHB4	2050	broad.mit.edu	37	7	100411606	100411606	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:100411606C>G	ENST00000358173.3	-	9	2094	c.1626G>C	c.(1624-1626)gcG>gcC	p.A542A	EPHB4_ENST00000360620.3_Silent_p.A542A|EPHB4_ENST00000477446.1_5'Flank	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	542					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A542A(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTGCCGTGCCCGCAATCAGGG	0.647																																					GBM(200;2113 3072 25865 52728)	GBM(200;2113 3072 25865 52728)	uc003uwn.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15						c.(1624-1626)GCG>GCC		EPH receptor B4 precursor							91.0	73.0	79.0					7																	100411606		2203	4300	6503	SO:0001819	synonymous_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100411606C>G	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1626G>C	7.37:g.100411606C>G						EPHB4_uc003uwm.1_Silent_p.A449A|EPHB4_uc010lhj.1_Silent_p.A542A|EPHB4_uc011kkf.1_3'UTR	p.A542A	NM_004444	NP_004435	P54760	EPHB4_HUMAN			9	2117	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		542			Helical; (Potential).		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	c.1626G>C	CCDS5706.1																																																																																				0.647	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		4	75	0	0	0	3.59834e-05	0	4	75				
DNAJC2	27000	broad.mit.edu	37	7	102963026	102963026	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:102963026C>T	ENST00000379263.3	-	9	1115	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	DNAJC2_ENST00000249270.7_Missense_Mutation_p.A289T|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	289					'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)	p.A289T(1)		endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						tctttcttggctttttcttct	0.333																																							uc003vbo.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(865-867)GCC>ACC		DnaJ (Hsp40) homolog, subfamily C, member 2							141.0	122.0	128.0					7																	102963026		1834	4089	5923	SO:0001583	missense	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102963026C>T	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.865G>A	7.37:g.102963026C>T	ENSP00000368565:p.Ala289Thr					PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.2_5'UTR|DNAJC2_uc010lix.2_Missense_Mutation_p.A289T|DNAJC2_uc003vbp.2_5'UTR	p.A289T	NM_014377	NP_055192	Q99543	DNJC2_HUMAN			9	1116	-			289					A4VCI0|Q9BVX1	Missense_Mutation	SNP	ENST00000379263.3	37	c.865G>A	CCDS43628.1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772209	0.69992	.	.	ENSG00000105821	ENST00000249270;ENST00000379263	T;T	0.39229	1.09;1.09	5.81	5.81	0.92471	.	0.098707	0.64402	D	0.000001	T	0.70395	0.3219	M	0.89095	3.005	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.76071	0.987;0.971	T	0.68239	-0.5461	10	0.24483	T	0.36	-0.989	19.6936	0.96012	0.0:1.0:0.0:0.0	.	289;289	Q99543-2;Q99543	.;DNJC2_HUMAN	T	289	ENSP00000249270:A289T;ENSP00000368565:A289T	ENSP00000249270:A289T	A	-	1	0	DNAJC2	102750262	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.958000	0.56737	2.751000	0.94390	0.650000	0.86243	GCC		0.333	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			13	18	0	0	0	0.00010058	0	13	18				
LAMB4	22798	broad.mit.edu	37	7	107708461	107708461	+	Splice_Site	SNP	G	G	C	rs371403032		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:107708461G>C	ENST00000388781.3	-	19	2529	c.2446C>G	c.(2446-2448)Cca>Gca	p.P816A	LAMB4_ENST00000205386.4_Splice_Site_p.P816A|LAMB4_ENST00000388780.3_Splice_Site_p.P816A	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	816	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGCTACGTACGGTGACAGCCG	0.527																																							uc010ljo.1		NA																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(2446-2448)CCA>GCA		laminin, beta 4 precursor							226.0	210.0	215.0					7																	107708461		2203	4300	6503	SO:0001630	splice_region_variant	22798				cell adhesion	basement membrane		g.chr7:107708461G>C	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.2446+1C>G	7.37:g.107708461G>C						LAMB4_uc003vey.2_Missense_Mutation_p.P816A	p.P816A	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			19	2530	-			816			Laminin EGF-like 6.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.2446C>G	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	8.200	0.797955	0.16327	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780	T;T;T	0.55413	0.52;0.52;0.52	5.03	-5.38	0.02673	EGF-like, laminin (2);	1.244610	0.05744	N	0.601904	T	0.30978	0.0782	N	0.13371	0.34	0.35671	D	0.813284	B	0.09022	0.002	B	0.06405	0.002	T	0.17653	-1.0362	9	.	.	.	.	10.3164	0.43740	0.2043:0.3875:0.4081:0.0	.	816	A4D0S4	LAMB4_HUMAN	A	816	ENSP00000205386:P816A;ENSP00000373433:P816A;ENSP00000373432:P816A	.	P	-	1	0	LAMB4	107495697	0.007000	0.16637	0.008000	0.14137	0.616000	0.37450	-1.111000	0.03303	-1.099000	0.03034	-0.302000	0.09304	CCA		0.527	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	Missense_Mutation	8	341	0	0	0	6.40141e-05	0	8	341				
DOCK4	9732	broad.mit.edu	37	7	111535745	111535745	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:111535745C>A	ENST00000437633.1	-	16	1766	c.1510G>T	c.(1510-1512)Ggg>Tgg	p.G504W	DOCK4_ENST00000428084.1_Missense_Mutation_p.G504W|DOCK4_ENST00000476846.1_5'UTR	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	504	DHR-1.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.G504W(1)|p.G492W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AAAGAAAACCCAAACAACTTC	0.398																																							uc003vfx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(1510-1512)GGG>TGG		dedicator of cytokinesis 4							223.0	203.0	210.0					7																	111535745		1934	4139	6073	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111535745C>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1510G>T	7.37:g.111535745C>A	ENSP00000404179:p.Gly504Trp					DOCK4_uc003vfy.2_Missense_Mutation_p.G504W|DOCK4_uc003vga.1_Missense_Mutation_p.G109W	p.G504W	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			16	1779	-		Acute lymphoblastic leukemia(1;0.0441)	504			DHR-1.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.1510G>T	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.940411|4.940411	0.92526|0.92526	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000445943	T;T|.	0.20463|.	2.07;2.07|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86715|0.86715	0.5999|0.5999	M|M	0.91663|0.91663	3.23|3.23	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.88252|0.88252	0.2917|0.2917	10|5	0.87932|.	D|.	0|.	.|.	20.4239|20.4239	0.99064|0.99064	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	504;504;504|.	Q149N2;Q149N5;Q8N1I0|.	.;.;DOCK4_HUMAN|.	W|F	492;504;504;492;503|491	ENSP00000410746:G504W;ENSP00000404179:G504W|.	ENSP00000345432:G492W|.	G|L	-|-	1|3	0|2	DOCK4|DOCK4	111322981|111322981	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.991000|0.991000	0.79684|0.79684	7.818000|7.818000	0.86416|0.86416	2.828000|2.828000	0.97474|0.97474	0.655000|0.655000	0.94253|0.94253	GGG|TTG		0.398	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		11	341	1	0	0.000219431	0.000219431	0.00454042	11	341				
FOXP2	93986	broad.mit.edu	37	7	114304371	114304371	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:114304371G>T	ENST00000393494.2	+	16	2162	c.1883G>T	c.(1882-1884)gGa>gTa	p.G628V	FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000403559.4_Missense_Mutation_p.G645V|FOXP2_ENST00000350908.4_Missense_Mutation_p.G628V|FOXP2_ENST00000393489.3_Missense_Mutation_p.G536V|FOXP2_ENST00000408937.3_Missense_Mutation_p.G653V|FOXP2_ENST00000393491.3_Missense_Mutation_p.G443V|FOXP2_ENST00000393498.2_Missense_Mutation_p.G607V			O15409	FOXP2_HUMAN	forkhead box P2	628					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G653V(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AGTAATCCTGGACTGATAAAT	0.423																																							uc003vhb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(1882-1884)GGA>GTA		forkhead box P2 isoform I							89.0	80.0	83.0					7																	114304371		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114304371G>T	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1883G>T	7.37:g.114304371G>T	ENSP00000377132:p.Gly628Val					FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.G653V|FOXP2_uc003vha.2_Missense_Mutation_p.G536V|FOXP2_uc011kmu.1_Missense_Mutation_p.G645V|FOXP2_uc011kmv.1_Missense_Mutation_p.G627V|FOXP2_uc010ljz.1_Missense_Mutation_p.G443V	p.G628V	NM_014491	NP_055306	O15409	FOXP2_HUMAN			16	2257	+			628					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1883G>T	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500262	0.44455	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.91631	-2.6;-2.58;-2.6;-2.6;-2.69;-2.88	5.57	5.57	0.84162	.	0.096735	0.64402	D	0.000001	D	0.93559	0.7944	L	0.38175	1.15	0.80722	D	1	P;P;D;P;D	0.55605	0.878;0.931;0.972;0.878;0.959	B;B;P;B;P	0.60682	0.29;0.376;0.878;0.29;0.58	D	0.93914	0.7199	10	0.62326	D	0.03	.	19.5416	0.95277	0.0:0.0:1.0:0.0	.	627;645;443;628;653	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	V	628;653;645;628;605;536;443	ENSP00000377132:G628V;ENSP00000386200:G653V;ENSP00000385069:G645V;ENSP00000265436:G628V;ENSP00000377129:G536V;ENSP00000377130:G443V	ENSP00000265436:G628V	G	+	2	0	FOXP2	114091607	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.292000	0.96076	2.614000	0.88457	0.655000	0.94253	GGA		0.423	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		27	43	1	0	1.13719e-10	0.000227799	2.61668e-09	27	43				
CFTR	1080	broad.mit.edu	37	7	117267710	117267710	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:117267710T>A	ENST00000003084.6	+	22	3735	c.3603T>A	c.(3601-3603)gaT>gaA	p.D1201E	CFTR_ENST00000454343.1_Missense_Mutation_p.D1140E|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1201					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.D1201E(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TGAAGAAAGATGACATCTGGC	0.408									Cystic Fibrosis																														uc003vjd.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(3601-3603)GAT>GAA		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						86.0	78.0	80.0					7																	117267710		2203	4300	6503	SO:0001583	missense	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117267710T>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.3603T>A	7.37:g.117267710T>A	ENSP00000003084:p.Asp1201Glu					CFTR_uc011knq.1_Missense_Mutation_p.D607E	p.D1201E	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		22	3735	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		1201			Cytoplasmic (Potential).		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.3603T>A	CCDS5773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.22|10.22	1.290555|1.290555	0.23564|0.23564	.|.	.|.	ENSG00000001626|ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809|ENST00000468795	D;D;D|.	0.92545|.	-2.99;-2.8;-3.06|.	5.86|5.86	0.419|0.419	0.16438|0.16438	.|.	0.549977|.	0.20348|.	N|.	0.094112|.	T|T	0.14614|0.14614	0.0353|0.0353	N|N	0.04805|0.04805	-0.155|-0.155	0.27501|0.27501	N|N	0.951974|0.951974	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.28106|0.28106	-1.0054|-1.0054	10|5	0.19590|.	T|.	0.45|.	-3.7623|-3.7623	5.1359|5.1359	0.14934|0.14934	0.109:0.0767:0.5257:0.2886|0.109:0.0767:0.5257:0.2886	.|.	1201|.	P13569|.	CFTR_HUMAN|.	E|K	1201;1140;1171|143	ENSP00000003084:D1201E;ENSP00000403677:D1140E;ENSP00000389119:D1171E|.	ENSP00000003084:D1201E|.	D|M	+|+	3|2	2|0	CFTR|CFTR	117054946|117054946	0.841000|0.841000	0.29509|0.29509	0.998000|0.998000	0.56505|0.56505	0.670000|0.670000	0.39368|0.39368	0.236000|0.236000	0.17967|0.17967	0.498000|0.498000	0.27948|0.27948	0.528000|0.528000	0.53228|0.53228	GAT|ATG		0.408	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		22	41	0	0	0	0.000375601	0	22	41				
CTTNBP2	83992	broad.mit.edu	37	7	117375073	117375073	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:117375073G>C	ENST00000160373.3	-	16	3861	c.3770C>G	c.(3769-3771)tCc>tGc	p.S1257C		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1257					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.S1257C(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CAGCAAGTCGGAGCCCTGGAG	0.527																																							uc003vjf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(3769-3771)TCC>TGC		cortactin binding protein 2							67.0	70.0	69.0					7																	117375073		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117375073G>C		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.3770C>G	7.37:g.117375073G>C	ENSP00000160373:p.Ser1257Cys						p.S1257C	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	16	3862	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1257					O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.3770C>G	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441356	0.83993	.	.	ENSG00000077063	ENST00000160373	T	0.68331	-0.32	5.38	5.38	0.77491	.	0.272814	0.43919	D	0.000513	T	0.79203	0.4406	M	0.83852	2.665	0.58432	D	0.999994	D	0.55605	0.972	P	0.51833	0.681	T	0.82924	-0.0216	10	0.87932	D	0	2.2411	19.4933	0.95060	0.0:0.0:1.0:0.0	.	1257	Q8WZ74	CTTB2_HUMAN	C	1257	ENSP00000160373:S1257C	ENSP00000160373:S1257C	S	-	2	0	CTTNBP2	117162309	1.000000	0.71417	0.940000	0.37924	0.539000	0.34962	7.284000	0.78650	2.654000	0.90174	0.655000	0.94253	TCC		0.527	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		15	20	0	0	0	5.01169e-05	0	15	20				
AASS	10157	broad.mit.edu	37	7	121717923	121717923	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:121717923G>C	ENST00000393376.1	-	22	2726	c.2631C>G	c.(2629-2631)ccC>ccG	p.P877P	AASS_ENST00000417368.2_Silent_p.P877P|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	877	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.P877P(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CCATGGCGGTGGGTAACCCCA	0.463																																							uc003vka.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2629-2631)CCC>CCG		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						156.0	161.0	159.0					7																	121717923		2203	4300	6503	SO:0001819	synonymous_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121717923G>C	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2631C>G	7.37:g.121717923G>C						AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.P877P|AASS_uc011knw.1_Silent_p.P365P	p.P877P	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			22	2727	-			877			Saccharopine dehydrogenase.		O95462	Silent	SNP	ENST00000393376.1	37	c.2631C>G	CCDS5783.1																																																																																				0.463	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		6	276	0	0	0	8.12818e-05	0	6	276				
FLNC	2318	broad.mit.edu	37	7	128478663	128478663	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:128478663G>A	ENST00000325888.8	+	8	1478	c.1217G>A	c.(1216-1218)gGc>gAc	p.G406D	FLNC_ENST00000346177.6_Missense_Mutation_p.G406D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	406					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.G406D(1)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCAGGGGCCGGCACTGGCGAT	0.667																																							uc003vnz.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(1216-1218)GGC>GAC		gamma filamin isoform a							60.0	74.0	69.0					7																	128478663		2160	4248	6408	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128478663G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1217G>A	7.37:g.128478663G>A	ENSP00000327145:p.Gly406Asp					FLNC_uc003voa.3_Missense_Mutation_p.G406D	p.G406D	NM_001458	NP_001449	Q14315	FLNC_HUMAN			8	1426	+			406			Filamin 2.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.1217G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982684	0.74474	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.70631	-0.5;-0.5	5.53	5.53	0.82687	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88570	0.6472	M	0.93898	3.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91236	0.5018	10	0.87932	D	0	.	18.0334	0.89292	0.0:0.0:1.0:0.0	.	406;406	Q14315-2;Q14315	.;FLNC_HUMAN	D	406	ENSP00000327145:G406D;ENSP00000344002:G406D	ENSP00000327145:G406D	G	+	2	0	FLNC	128265899	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	9.841000	0.99482	2.590000	0.87494	0.561000	0.74099	GGC		0.667	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			36	62	0	0	0	0.000374591	0	36	62				
NRF1	4899	broad.mit.edu	37	7	129348936	129348937	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:129348936_129348937CC>AA	ENST00000393232.1	+	6	745_746	c.628_629CC>AA	c.(628-630)CCa>AAa	p.P210K	NRF1_ENST00000223190.4_Missense_Mutation_p.P210K|NRF1_ENST00000393231.3_Missense_Mutation_p.P210K|NRF1_ENST00000539636.1_Missense_Mutation_p.P49K|NRF1_ENST00000393230.2_Missense_Mutation_p.P210K|NRF1_ENST00000353868.4_Missense_Mutation_p.P210K|NRF1_ENST00000311967.2_Missense_Mutation_p.P210K	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	210					cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P210K(1)		breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GGCATTTATCCCAGAGATGCTC	0.49																																							uc003voz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(628-630)CCA>AAA		nuclear respiratory factor 1																																				SO:0001583	missense	4899				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:129348936_129348937CC>AA	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	Exception_encountered	7.37:g.129348936_129348937delinsAA	ENSP00000376924:p.Pro210Lys					NRF1_uc003vpa.2_Missense_Mutation_p.P210K|NRF1_uc011kpa.1_Missense_Mutation_p.P49K|NRF1_uc003vpb.2_Missense_Mutation_p.P210K	p.P210K	NM_005011	NP_005002	Q16656	NRF1_HUMAN			6	745_746	+			210					A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	DNP	ENST00000393232.1	37	c.628_629CC>AA	CCDS5813.2																																																																																				0.490	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289813.1	NM_001040110		11	480	0	0	0	6.4e-05	0	11	480				
PLXNA4	91584	broad.mit.edu	37	7	131864552	131864552	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:131864552C>A	ENST00000359827.3	-	20	4730	c.3768G>T	c.(3766-3768)gtG>gtT	p.V1256V	PLXNA4_ENST00000321063.4_Silent_p.V1256V			Q9HCM2	PLXA4_HUMAN	plexin A4	1256					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.V1256V(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGGCAATGAGCACGGCCACGA	0.617																																							uc003vra.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(3766-3768)GTG>GTT		plexin A4 isoform 1							39.0	39.0	39.0					7																	131864552		2203	4300	6503	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131864552C>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3768G>T	7.37:g.131864552C>A							p.V1256V	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			20	3997	-			1256			Helical; (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.3768G>T	CCDS43646.1																																																																																				0.617	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		10	19	1	0	5.50884e-06	0.00010058	0.000120511	10	19				
KIAA1549	57670	broad.mit.edu	37	7	138603427	138603427	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:138603427C>G	ENST00000422774.1	-	2	993	c.945G>C	c.(943-945)tgG>tgC	p.W315C	KIAA1549_ENST00000440172.1_Missense_Mutation_p.W315C|KIAA1549_ENST00000242365.4_Missense_Mutation_p.W265C			Q9HCM3	K1549_HUMAN	KIAA1549	315						integral component of membrane (GO:0016021)		p.W315C(1)|p.W265C(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CACTTGTGGCCCAAACCTCCT	0.522			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1		NA		Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - Missense(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(943-945)TGG>TGC		hypothetical protein LOC57670 isoform 1							93.0	100.0	97.0					7																	138603427		2034	4185	6219	SO:0001583	missense	57670					integral to membrane		g.chr7:138603427C>G		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.945G>C	7.37:g.138603427C>G	ENSP00000416040:p.Trp315Cys					KIAA1549_uc003vuk.3_Missense_Mutation_p.W265C|KIAA1549_uc011kqj.1_Missense_Mutation_p.W315C	p.W315C	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			2	994	-			315					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.945G>C	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414706	0.42817	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.21932	1.98;1.99;1.98	4.19	4.19	0.49359	.	2.428320	0.02548	N	0.095322	T	0.14442	0.0349	N	0.08118	0	0.09310	N	0.999999	P;P	0.42010	0.657;0.768	B;B	0.41036	0.187;0.346	T	0.12967	-1.0527	10	0.39692	T	0.17	.	7.1359	0.25527	0.0:0.8751:0.0:0.1249	.	315;315	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	C	315;265;315	ENSP00000406661:W315C;ENSP00000242365:W265C;ENSP00000416040:W315C	ENSP00000242365:W265C	W	-	3	0	KIAA1549	138253967	0.006000	0.16342	0.014000	0.15608	0.628000	0.37860	1.210000	0.32370	2.172000	0.68678	0.561000	0.74099	TGG		0.522	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			30	53	0	0	0	0.000147802	0	30	53				
MGAM	8972	broad.mit.edu	37	7	141800678	141800678	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:141800678G>T	ENST00000549489.2	+	45	5358	c.5263G>T	c.(5263-5265)Ggg>Tgg	p.G1755W	MGAM_ENST00000475668.2_Missense_Mutation_p.G2651W	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1755	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.G1755W(2)|p.G2652W(1)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGGGATGATGGGCAAAGCAT	0.502																																							uc003vwy.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(5263-5265)GGG>TGG		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						86.0	87.0	87.0					7																	141800678		1984	4155	6139	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141800678G>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5263G>T	7.37:g.141800678G>T	ENSP00000447378:p.Gly1755Trp						p.G1755W	NM_004668	NP_004659	O43451	MGA_HUMAN			45	5317	+	Melanoma(164;0.0272)		1755			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.5263G>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256869	0.80246	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.92495	-3.05	4.83	4.83	0.62350	.	.	.	.	.	D	0.96685	0.8918	M	0.89534	3.04	0.44098	D	0.996867	D	0.89917	1.0	D	0.80764	0.994	D	0.97461	1.0034	9	0.87932	D	0	.	16.8509	0.85993	0.0:0.0:1.0:0.0	.	1755	O43451	MGA_HUMAN	W	1755;2652	ENSP00000447378:G1755W	ENSP00000373973:G1755W	G	+	1	0	MGAM	141447147	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	8.736000	0.91554	2.507000	0.84556	0.643000	0.83706	GGG		0.502	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			9	11	1	0	9.70103e-10	3.86212e-05	2.20638e-08	9	11				
PRSS1	5644	broad.mit.edu	37	7	142459785	142459785	+	Missense_Mutation	SNP	G	G	A	rs199422123		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:142459785G>A	ENST00000311737.7	+	3	367	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	PRSS1_ENST00000486171.1_Missense_Mutation_p.A135T	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	121	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.A121T(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)	AGTAATCAACGCCCGCGTGTC	0.572																																							uc003wak.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2	GRCh37	CM063077	PRSS1	M		c.(361-363)GCC>ACC		protease, serine, 1 preproprotein							171.0	158.0	163.0					7																	142459785		2203	4300	6503	SO:0001583	missense	5644	Hereditary_Pancreatitis			digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142459785G>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.361G>A	7.37:g.142459785G>A	ENSP00000308720:p.Ala121Thr					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_Missense_Mutation_p.A61T	p.A121T	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	378	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	121			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.361G>A	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	G	4.678	0.126025	0.08931	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;D	0.92911	-3.13;-3.13;-1.51	3.28	-6.56	0.01848	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.182470	0.05686	N	0.591314	T	0.78387	0.4275	N	0.05177	-0.1	0.09310	N	1	B;B	0.12013	0.005;0.003	B;B	0.08055	0.003;0.003	T	0.66344	-0.5947	10	0.35671	T	0.21	.	5.3227	0.15889	0.2532:0.0:0.2027:0.5441	.	135;121	E7EQ64;P07477	.;TRY1_HUMAN	T	135;121;111;71	ENSP00000417854:A135T;ENSP00000308720:A121T;ENSP00000419912:A71T	ENSP00000308720:A121T	A	+	1	0	PRSS1	142139359	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.990000	0.00162	-1.639000	0.01527	0.398000	0.26397	GCC		0.572	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			55	67	0	0	0	0.000147903	0	55	67				
CNTNAP2	26047	broad.mit.edu	37	7	148112658	148112658	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:148112658C>T	ENST00000361727.3	+	24	4462	c.3946C>T	c.(3946-3948)Ccc>Tcc	p.P1316S	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P375S|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1316					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.P1316S(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)			GAACAACGACCCCAACTTCAC	0.547										HNSCC(39;0.1)																													uc003weu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(3946-3948)CCC>TCC		cell recognition molecule Caspr2 precursor							99.0	90.0	93.0					7																	148112658		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.chr7:148112658C>T	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.3946C>T	7.37:g.148112658C>T	ENSP00000354778:p.Pro1316Ser	HNSCC(39;0.1)				CNTNAP2_uc003wev.1_Missense_Mutation_p.P93S	p.P1316S	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		24	4462	+	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)	1316			Cytoplasmic (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.3946C>T	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035044	0.54896	.	.	ENSG00000174469	ENST00000361727;ENST00000538075	D;T	0.88586	-2.4;2.84	5.42	5.42	0.78866	.	0.148137	0.45126	D	0.000400	D	0.85687	0.5754	L	0.51914	1.62	0.36244	D	0.853462	B	0.31435	0.323	B	0.27380	0.079	D	0.85673	0.1296	10	0.24483	T	0.36	.	17.8137	0.88624	0.0:1.0:0.0:0.0	.	1316	Q9UHC6	CNTP2_HUMAN	S	1316;375	ENSP00000354778:P1316S;ENSP00000440732:P375S	ENSP00000354778:P1316S	P	+	1	0	CNTNAP2	147743591	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.024000	0.64090	2.534000	0.85438	0.655000	0.94253	CCC		0.547	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			32	64	0	0	0	0.000191422	0	32	64				
AOC1	26	broad.mit.edu	37	7	150555928	150555928	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:150555928G>A	ENST00000493429.1	+	5	2232	c.1648G>A	c.(1648-1650)Gtc>Atc	p.V550I	AOC1_ENST00000416793.2_Missense_Mutation_p.V550I|AOC1_ENST00000360937.4_Missense_Mutation_p.V550I|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000467291.1_Missense_Mutation_p.V550I			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	550					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)	p.V550I(1)								Amiloride(DB00594)	ACACCGCGTGGTCCAGCCAAC	0.577																																						Pancreas(195;1227 3054 24912 28503)	uc003why.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(2)	6						c.(1648-1650)GTC>ATC		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						35.0	39.0	38.0					7																	150555928		2007	4175	6182	SO:0001583	missense	26				amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding	g.chr7:150555928G>A	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.1648G>A	7.37:g.150555928G>A	ENSP00000418614:p.Val550Ile					ABP1_uc003whz.1_Missense_Mutation_p.V550I|ABP1_uc003wia.1_Missense_Mutation_p.V550I	p.V550I	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	5866	+	all_neural(206;0.219)		550					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.1648G>A	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347169	0.24426	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000487631;ENST00000416793;ENST00000437714	T;T;T;T	0.03635	3.86;3.86;3.86;3.86	5.42	4.48	0.54585	Copper amine oxidase, C-terminal (3);	0.263632	0.38492	N	0.001671	T	0.07143	0.0181	L	0.58428	1.81	0.43364	D	0.995441	P;P	0.41546	0.752;0.754	P;P	0.49226	0.46;0.603	T	0.36890	-0.9729	10	0.15952	T	0.53	-16.2037	8.4048	0.32608	0.0:0.1674:0.6595:0.1732	.	550;550	C9J690;P19801	.;ABP1_HUMAN	I	550;550;550;76;550;426	ENSP00000418614:V550I;ENSP00000418328:V550I;ENSP00000354193:V550I;ENSP00000411613:V550I	ENSP00000354193:V550I	V	+	1	0	ABP1	150186861	1.000000	0.71417	0.651000	0.29564	0.164000	0.22412	3.700000	0.54786	2.539000	0.85634	0.561000	0.74099	GTC		0.577	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		19	31	0	0	0	0.000229342	0	19	31				
MYOM2	9172	broad.mit.edu	37	8	2092878	2092878	+	Silent	SNP	C	C	A	rs542232441		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:2092878C>A	ENST00000262113.4	+	37	4512	c.4371C>A	c.(4369-4371)ccC>ccA	p.P1457P	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Silent_p.P882P	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1457					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.P1457P(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AGCTCATCCCCGCGTCTGCCT	0.582																																							uc003wpx.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4369-4371)CCC>CCA		myomesin 2							54.0	50.0	52.0					8																	2092878		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2092878C>A		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.4371C>A	8.37:g.2092878C>A						MYOM2_uc011kwi.1_Silent_p.P882P	p.P1457P	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	37	4509	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1457					Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.4371C>A	CCDS5957.1																																																																																				0.582	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		16	22	1	0	6.31663e-08	0.000308642	1.41328e-06	16	22				
CSMD1	64478	broad.mit.edu	37	8	3165290	3165290	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:3165290C>A	ENST00000520002.1	-	26	4435	c.3880G>T	c.(3880-3882)Ggc>Tgc	p.G1294C	CSMD1_ENST00000537824.1_Missense_Mutation_p.G1293C|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1294C|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1294C|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1293C|CSMD1_ENST00000542608.1_Missense_Mutation_p.G1293C|CSMD1_ENST00000602557.1_Missense_Mutation_p.G1294C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1294	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.G1022C(1)|p.G1293C(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGGATAGCCAGGGGACAAT	0.483																																							uc011kwk.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(3880-3882)GGC>TGC		CUB and Sushi multiple domains 1 precursor							151.0	151.0	151.0					8																	3165290		2030	4196	6226	SO:0001583	missense	64478					integral to membrane		g.chr8:3165290C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3880G>T	8.37:g.3165290C>A	ENSP00000430733:p.Gly1294Cys					CSMD1_uc011kwj.1_Missense_Mutation_p.G686C|CSMD1_uc003wqe.2_Missense_Mutation_p.G450C	p.G1294C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	25	4270	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1294			Extracellular (Potential).|CUB 8.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.3880G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.356921|4.356921	0.82243|0.82243	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.62639|.	0.01;0.01;0.01;0.01;0.01|.	4.61|4.61	4.61|4.61	0.57282|0.57282	CUB (5);|.	0.149183|.	0.43919|.	D|.	0.000510|.	D|D	0.83566|0.83566	0.5282|0.5282	M|M	0.89478|0.89478	3.035|3.035	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.91635|.	0.956;0.999;0.99|.	D|D	0.87215|0.87215	0.2250|0.2250	10|5	0.87932|.	D|.	0|.	.|.	17.4557|17.4557	0.87606|0.87606	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1294;1294;1294|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	C|L	1294;1294;1156;1293;1293;1293|773	ENSP00000383047:G1294C;ENSP00000430733:G1294C;ENSP00000441462:G1293C;ENSP00000446243:G1293C;ENSP00000441675:G1293C|.	ENSP00000320445:G1156C|.	G|W	-|-	1|2	0|0	CSMD1|CSMD1	3152697|3152697	1.000000|1.000000	0.71417|0.71417	0.953000|0.953000	0.39169|0.39169	0.794000|0.794000	0.44872|0.44872	7.616000|7.616000	0.83018|0.83018	2.118000|2.118000	0.64928|0.64928	0.650000|0.650000	0.86243|0.86243	GGC|TGG		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		8	160	1	0	1.12685e-05	0.000274275	0.000244952	8	160				
ZNF705B	100132396	broad.mit.edu	37	8	7806690	7806690	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:7806690C>G	ENST00000400120.3	+	4	334	c.52C>G	c.(52-54)Cag>Gag	p.Q18E	ZNF705B_ENST00000443676.1_Missense_Mutation_p.Q18E	NM_001193630.1	NP_001180559.1	P0CI00	Z705B_HUMAN	zinc finger protein 705B	18	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)	p.Q18E(2)		kidney(2)|lung(2)	4						TGACTTCACCCAGGAAGAGTG	0.428																																							uc010lro.1		NA																	2	Substitution - Missense(2)		lung(2)		NA						c.(52-54)CAG>GAG		zinc finger protein 705D																																				SO:0001583	missense	0							g.chr8:7806690C>G		CCDS55194.1	8p23.1	2013-01-08			ENSG00000215356	ENSG00000215356		"""Zinc fingers, C2H2-type"", ""-"""	32284	protein-coding gene	gene with protein product							Standard	NM_001193630		Approved		uc010lro.1	P0CI00	OTTHUMG00000165401	ENST00000400120.3:c.52C>G	8.37:g.7806690C>G	ENSP00000382987:p.Gln18Glu						p.Q18E	NM_001039615	NP_001034704					4	334	+								A8K971|A8MY01	Missense_Mutation	SNP	ENST00000400120.3	37	c.52C>G	CCDS55194.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236268	0.22626	.	.	ENSG00000215356	ENST00000400120;ENST00000443676	T;T	0.02032	4.49;4.49	0.64	-0.607	0.11615	Krueppel-associated box (4);	.	.	.	.	T	0.01835	0.0058	L	0.41236	1.265	0.20196	N	0.999921	B	0.34372	0.451	B	0.30029	0.11	T	0.44513	-0.9323	9	0.54805	T	0.06	.	1.5897	0.02651	0.3419:0.3945:0.0:0.2636	.	18	P0CI00	Z705L_HUMAN	E	18	ENSP00000382987:Q18E;ENSP00000411618:Q18E	ENSP00000382987:Q18E	Q	+	1	0	ZNF705B	7844100	0.570000	0.26651	0.071000	0.20095	0.159000	0.22180	-0.239000	0.08965	-0.200000	0.10300	0.064000	0.15345	CAG		0.428	ZNF705B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383804.1	NM_001193630		74	22	0	0	0	0.000147903	0	74	22				
MTMR7	9108	broad.mit.edu	37	8	17157580	17157580	+	Missense_Mutation	SNP	G	G	C	rs140365611		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:17157580G>C	ENST00000180173.5	-	14	1808	c.1774C>G	c.(1774-1776)Cgg>Ggg	p.R592G	MTMR7_ENST00000398099.3_Missense_Mutation_p.R183G|VPS37A_ENST00000521162.1_3'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	592					inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)	p.R592G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		GAAGGGCTCCGGGATGGAAAT	0.478																																							uc003wxm.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1774-1776)CGG>GGG		myotubularin related protein 7							169.0	166.0	167.0					8																	17157580		2203	4300	6503	SO:0001583	missense	9108						protein tyrosine phosphatase activity	g.chr8:17157580G>C	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.1774C>G	8.37:g.17157580G>C	ENSP00000180173:p.Arg592Gly					MTMR7_uc011kya.1_Missense_Mutation_p.R226G|MTMR7_uc011kyb.1_Missense_Mutation_p.R183G	p.R592G	NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	14	2013	-			592					A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	c.1774C>G	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949558	0.34377	.	.	ENSG00000003987	ENST00000180173;ENST00000398099	D;T	0.93488	-3.23;-1.17	5.5	-0.495	0.12030	.	0.461462	0.25704	N	0.028841	D	0.84822	0.5557	N	0.24115	0.695	0.47123	D	0.999321	B	0.10296	0.003	B	0.04013	0.001	T	0.71421	-0.4598	10	0.20046	T	0.44	.	10.5449	0.45054	0.0982:0.0:0.6531:0.2487	.	592	Q9Y216	MTMR7_HUMAN	G	592;183	ENSP00000180173:R592G;ENSP00000381171:R183G	ENSP00000180173:R592G	R	-	1	2	MTMR7	17201951	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	0.860000	0.27871	0.095000	0.17434	-0.467000	0.05162	CGG		0.478	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		4	158	0	0	0	8.12818e-05	0	4	158				
CCDC25	55246	broad.mit.edu	37	8	27610105	27610105	+	Splice_Site	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:27610105C>G	ENST00000356537.4	-	5	262		c.e5-1		CCDC25_ENST00000522915.1_Splice_Site|snoU13_ENST00000459268.1_RNA|RP11-16P20.3_ENST00000521510.1_RNA|CCDC25_ENST00000539095.1_Splice_Site	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25							extracellular vesicular exosome (GO:0070062)		p.?(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		TATTCTCTCCCTGAAACACAA	0.428																																							uc003xgc.2		NA																	1	Unknown(1)		lung(1)		0						c.e5-1		coiled-coil domain containing 25							126.0	112.0	117.0					8																	27610105		2203	4300	6503	SO:0001630	splice_region_variant	55246							g.chr8:27610105C>G	AK001715	CCDS6062.2	8p21.1	2006-09-20			ENSG00000147419	ENSG00000147419			25591	protein-coding gene	gene with protein product						12477932	Standard	NM_018246		Approved	FLJ10853	uc003xgc.3	Q86WR0	OTTHUMG00000132173	ENST00000356537.4:c.169-1G>C	8.37:g.27610105C>G						CCDC25_uc003xgd.2_Splice_Site|CCDC25_uc011lan.1_Splice_Site|CCDC25_uc011lao.1_Splice_Site|CCDC25_uc003xge.2_Splice_Site|CCDC25_uc003xgf.1_Splice_Site	p.G57_splice	NM_018246	NP_060716	Q86WR0	CCD25_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)	5	282	-		Ovarian(32;0.000953)						Q0P663|Q96SI2|Q9NV98	Splice_Site	SNP	ENST00000356537.4	37	c.169_splice	CCDS6062.2	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532467	0.64972	.	.	ENSG00000147419	ENST00000356537	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5073	0.84276	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CCDC25	27666024	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.295000	0.78780	2.477000	0.83638	0.563000	0.77884	.		0.428	CCDC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255224.1	NM_018246	Intron	4	48	0	0	0	1.23904e-05	0	4	48				
PCMTD1	115294	broad.mit.edu	37	8	52733173	52733173	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:52733173C>A	ENST00000360540.5	-	7	1218	c.812G>T	c.(811-813)aGg>aTg	p.R271M	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.R195M|PCMTD1_ENST00000522514.1_Missense_Mutation_p.R271M	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	271						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.R271M(2)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGGTGGAGCCCTTTGAGGAAT	0.423																																							uc003xqx.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(811-813)AGG>ATG		protein-L-isoaspartate (D-aspartate)							122.0	128.0	126.0					8																	52733173		2203	4298	6501	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733173C>A		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.812G>T	8.37:g.52733173C>A	ENSP00000353739:p.Arg271Met					PCMTD1_uc011ldm.1_Missense_Mutation_p.R141M|PCMTD1_uc003xqw.3_Missense_Mutation_p.R271M|PCMTD1_uc011ldn.1_Missense_Mutation_p.R83M|PCMTD1_uc010lya.2_Missense_Mutation_p.R195M	p.R271M	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			6	1153	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	271					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.812G>T	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337908	0.60963	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.43294	0.95;0.95;0.95	5.77	4.89	0.63831	.	0.046526	0.85682	D	0.000000	T	0.54240	0.1846	M	0.61703	1.905	0.42707	D	0.993631	D;D;P	0.71674	0.994;0.998;0.882	P;D;P	0.63113	0.733;0.911;0.576	T	0.56098	-0.8035	10	0.59425	D	0.04	-23.8708	7.8639	0.29526	0.0:0.7539:0.0:0.2461	.	141;195;271	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	M	271;195;271	ENSP00000353739:R271M;ENSP00000444026:R195M;ENSP00000428099:R271M	ENSP00000353739:R271M	R	-	2	0	PCMTD1	52895726	0.964000	0.33143	0.710000	0.30468	0.995000	0.86356	2.798000	0.47884	2.722000	0.93159	0.655000	0.94253	AGG		0.423	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		10	198	1	0	1.49906e-05	0.000219431	0.000324325	10	198				
PENK	5179	broad.mit.edu	37	8	57353976	57353976	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:57353976G>C	ENST00000314922.3	-	2	735	c.659C>G	c.(658-660)cCa>cGa	p.P220R	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Missense_Mutation_p.P220R	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	220					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.P220R(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCACCACTCTGGGCGACCTAC	0.537																																							uc003xsz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(658-660)CCA>CGA		proenkephalin							98.0	100.0	99.0					8																	57353976		2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57353976G>C		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.659C>G	8.37:g.57353976G>C	ENSP00000324248:p.Pro220Arg					PENK_uc003xta.3_Missense_Mutation_p.P220R	p.P220R	NM_006211	NP_006202	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	740	-		all_lung(136;0.229)	220					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.659C>G	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352599	0.82132	.	.	ENSG00000181195	ENST00000314922;ENST00000451791	T;T	0.60299	0.2;0.2	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.80204	0.4580	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82174	-0.0588	10	0.87932	D	0	-15.3493	19.2867	0.94077	0.0:0.0:1.0:0.0	.	220	P01210	PENK_HUMAN	R	220	ENSP00000324248:P220R;ENSP00000400894:P220R	ENSP00000324248:P220R	P	-	2	0	PENK	57516530	1.000000	0.71417	0.945000	0.38365	0.711000	0.40976	8.925000	0.92832	2.793000	0.96121	0.655000	0.94253	CCA		0.537	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			4	137	0	0	0	3.59834e-05	0	4	137				
RAB2A	5862	broad.mit.edu	37	8	61496839	61496839	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:61496839G>T	ENST00000262646.7	+	4	610	c.259G>T	c.(259-261)Gat>Tat	p.D87Y	RAB2A_ENST00000529579.1_Missense_Mutation_p.D87Y|RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000531289.1_Missense_Mutation_p.D63Y	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	87					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D87Y(1)		endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			ACTAGTTTACGATATTACACG	0.378																																							uc003xud.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(259-261)GAT>TAT		RAB2A, member RAS oncogene family							135.0	131.0	132.0					8																	61496839		2203	4300	6503	SO:0001583	missense	5862				ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity	g.chr8:61496839G>T		CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"""RAB, member RAS oncogene"""	9763	protein-coding gene	gene with protein product		179509	"""RAB2, member RAS oncogene family"""	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.259G>T	8.37:g.61496839G>T	ENSP00000262646:p.Asp87Tyr					RAB2A_uc011lef.1_Missense_Mutation_p.D63Y	p.D87Y	NM_002865	NP_002856	P61019	RAB2A_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0805)		4	467	+			87					B2R5W8|B4DMQ5|P08886	Missense_Mutation	SNP	ENST00000262646.7	37	c.259G>T	CCDS6175.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899263	0.91962	.	.	ENSG00000104388	ENST00000262646;ENST00000531289;ENST00000529579;ENST00000543829	D;D;D	0.87491	-2.26;-2.26;-2.26	5.84	5.84	0.93424	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.97114	0.9057	H	0.99634	4.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98468	1.0599	10	0.87932	D	0	.	20.1322	0.98003	0.0:0.0:1.0:0.0	.	63;87	B4DMQ5;P61019	.;RAB2A_HUMAN	Y	87;63;87;41	ENSP00000262646:D87Y;ENSP00000431846:D63Y;ENSP00000431589:D87Y	ENSP00000262646:D87Y	D	+	1	0	RAB2A	61659393	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.869000	0.99810	2.765000	0.95021	0.484000	0.47621	GAT		0.378	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259145.2			62	94	1	0	1.34159e-35	0.000147903	3.50957e-34	62	94				
CRISPLD1	83690	broad.mit.edu	37	8	75929613	75929613	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:75929613G>T	ENST00000262207.4	+	10	1523	c.1055G>T	c.(1054-1056)tGg>tTg	p.W352L	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.W166L|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.W164L	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	352	LCCL 1. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GATGGTGGCTGGGTAGATATC	0.338																																							uc003yan.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1054-1056)TGG>TTG		cysteine-rich secretory protein LCCL domain							126.0	136.0	133.0					8																	75929613		2203	4297	6500	SO:0001583	missense	83690					extracellular region		g.chr8:75929613G>T	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1055G>T	8.37:g.75929613G>T	ENSP00000262207:p.Trp352Leu					CRISPLD1_uc011lfk.1_Missense_Mutation_p.W164L|CRISPLD1_uc011lfl.1_Missense_Mutation_p.W164L	p.W352L	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		10	1430	+	Breast(64;0.0799)		352			LCCL 1.		B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	c.1055G>T	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	G	9.353	1.065924	0.20067	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.88124	-2.34;-2.34;-2.34	5.42	5.42	0.78866	LCCL (5);	0.000000	0.85682	D	0.000000	D	0.82683	0.5090	N	0.02357	-0.585	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.77275	-0.2648	10	0.02654	T	1	.	19.416	0.94700	0.0:0.0:1.0:0.0	.	166;352	B7Z929;Q9H336	.;CRLD1_HUMAN	L	352;164;166	ENSP00000262207:W352L;ENSP00000430105:W164L;ENSP00000429746:W166L	ENSP00000262207:W352L	W	+	2	0	CRISPLD1	76092168	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.371000	0.79600	2.821000	0.97095	0.650000	0.86243	TGG		0.338	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		89	134	1	0	2.56585e-57	0.000147903	6.84226e-56	89	134				
CDH17	1015	broad.mit.edu	37	8	95183133	95183133	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:95183133C>G	ENST00000027335.3	-	8	988	c.864G>C	c.(862-864)caG>caC	p.Q288H	CDH17_ENST00000450165.2_Missense_Mutation_p.Q288H|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	288	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.Q288H(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TATCTCCTTCCTGGTCAATTG	0.468																																							uc003ygh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(862-864)CAG>CAC		cadherin 17 precursor							146.0	143.0	144.0					8																	95183133		2203	4300	6503	SO:0001583	missense	1015					integral to membrane	calcium ion binding	g.chr8:95183133C>G	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.864G>C	8.37:g.95183133C>G	ENSP00000027335:p.Gln288His					CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.Q288H	p.Q288H	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		8	989	-	Breast(36;4.65e-06)		288			Extracellular (Potential).|Cadherin 3.		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	c.864G>C	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871547	0.51695	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.52983	0.64;0.64	5.95	2.8	0.32819	Cadherin (4);Cadherin-like (1);	0.122140	0.37348	N	0.002132	T	0.37348	0.1000	L	0.54908	1.71	0.38926	D	0.957835	P	0.45957	0.869	B	0.41036	0.346	T	0.35699	-0.9778	10	0.66056	D	0.02	-6.2947	2.9068	0.05723	0.1955:0.462:0.0:0.3425	.	288	Q12864	CAD17_HUMAN	H	288	ENSP00000027335:Q288H;ENSP00000401468:Q288H	ENSP00000027335:Q288H	Q	-	3	2	CDH17	95252309	0.491000	0.26019	1.000000	0.80357	0.955000	0.61496	-0.142000	0.10311	0.827000	0.34685	0.650000	0.86243	CAG		0.468	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		5	196	0	0	0	1.23904e-05	0	5	196				
DPYS	1807	broad.mit.edu	37	8	105441832	105441832	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:105441832C>G	ENST00000351513.2	-	5	1023	c.891G>C	c.(889-891)atG>atC	p.M297I		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	297					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)	p.M297I(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AAGGTGGACCCATGACATGGT	0.502																																							uc003yly.3		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(889-891)ATG>ATC		dihydropyrimidinase							171.0	134.0	146.0					8																	105441832		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105441832C>G	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.891G>C	8.37:g.105441832C>G	ENSP00000276651:p.Met297Ile						p.M297I	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	1020	-			297						Missense_Mutation	SNP	ENST00000351513.2	37	c.891G>C	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747540	0.69533	.	.	ENSG00000147647	ENST00000351513	D	0.88046	-2.33	6.06	6.06	0.98353	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.86522	0.5953	L	0.45228	1.405	0.58432	D	0.999992	B	0.24651	0.108	B	0.32533	0.147	T	0.81741	-0.0794	10	0.52906	T	0.07	-37.308	20.6244	0.99512	0.0:1.0:0.0:0.0	.	297	Q14117	DPYS_HUMAN	I	297	ENSP00000276651:M297I	ENSP00000276651:M297I	M	-	3	0	DPYS	105511008	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.999000	0.70665	2.879000	0.98667	0.650000	0.86243	ATG		0.502	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		4	70	0	0	0	0.00024832	0	4	70				
SYBU	55638	broad.mit.edu	37	8	110592123	110592123	+	Silent	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:110592123C>T	ENST00000422135.1	-	6	1154	c.639G>A	c.(637-639)ctG>ctA	p.L213L	SYBU_ENST00000440310.1_Silent_p.L213L|SYBU_ENST00000399066.3_Silent_p.L210L|SYBU_ENST00000276646.9_Silent_p.L213L|SYBU_ENST00000528331.1_Silent_p.L94L|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000532779.1_Silent_p.L145L|SYBU_ENST00000533171.1_Silent_p.L213L|SYBU_ENST00000424158.2_Silent_p.L218L|SYBU_ENST00000408889.3_Silent_p.L94L|SYBU_ENST00000433638.1_Silent_p.L213L|SYBU_ENST00000408908.2_Silent_p.L213L|SYBU_ENST00000529175.1_Silent_p.L7L|SYBU_ENST00000533065.1_Silent_p.L94L|SYBU_ENST00000529690.1_Silent_p.L83L|SYBU_ENST00000446070.2_Silent_p.L212L|SYBU_ENST00000533895.1_Silent_p.L212L|SYBU_ENST00000528647.1_Silent_p.L212L|SYBU_ENST00000419099.1_Silent_p.L212L	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	213	Ser-rich.|Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.L210L(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TGACAGGGCTCAGCTGATTCC	0.552																																							uc003ynj.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(637-639)CTG>CTA		Golgi-localized syntaphilin-related protein							190.0	180.0	183.0					8																	110592123		2047	4202	6249	SO:0001819	synonymous_variant	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110592123C>T	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.639G>A	8.37:g.110592123C>T						SYBU_uc003yni.3_Silent_p.L210L|SYBU_uc003ynk.3_Silent_p.L94L|SYBU_uc010mco.2_Silent_p.L212L|SYBU_uc003ynl.3_Silent_p.L212L|SYBU_uc010mcp.2_Silent_p.L213L|SYBU_uc010mcq.2_Silent_p.L213L|SYBU_uc003yno.3_Silent_p.L94L|SYBU_uc010mcr.2_Silent_p.L213L|SYBU_uc003ynm.3_Silent_p.L212L|SYBU_uc003ynn.3_Silent_p.L212L|SYBU_uc010mcs.2_Silent_p.L94L|SYBU_uc010mct.2_Silent_p.L213L|SYBU_uc010mcu.2_Silent_p.L212L|SYBU_uc003ynp.3_Silent_p.L145L|SYBU_uc010mcv.2_Silent_p.L213L|SYBU_uc003ynh.3_Silent_p.L7L|SYBU_uc011lhw.1_Silent_p.L83L	p.L213L	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN			5	802	-			213			Sufficient for interaction with KIF5B.|Ser-rich.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Silent	SNP	ENST00000422135.1	37	c.639G>A	CCDS47912.1																																																																																				0.552	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		72	120	0	0	0	0.000147903	0	72	120				
CSMD3	114788	broad.mit.edu	37	8	113253965	113253965	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:113253965G>C	ENST00000297405.5	-	66	10696	c.10452C>G	c.(10450-10452)ccC>ccG	p.P3484P	CSMD3_ENST00000343508.3_Silent_p.P3444P|CSMD3_ENST00000352409.3_Silent_p.P3414P|CSMD3_ENST00000455883.2_Silent_p.P3315P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3484						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P3444P(2)|p.P3484P(2)		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						GCTTTGGGCTGGGTGTTCCCA	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	4	Substitution - coding silent(4)		lung(4)	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.(10450-10452)CCC>CCG		CUB and Sushi multiple domains 3 isoform 1							123.0	132.0	129.0					8																	113253965		2203	4299	6502	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113253965G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10452C>G	8.37:g.113253965G>C		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.P2686P|CSMD3_uc003ynt.2_Silent_p.P3444P|CSMD3_uc011lhx.1_Silent_p.P3315P	p.P3484P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			66	10611	-			3484			Extracellular (Potential).		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.10452C>G	CCDS6315.1																																																																																				0.323	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		5	221	0	0	0	0.000157383	0	5	221				
TRPS1	7227	broad.mit.edu	37	8	116631852	116631852	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:116631852C>G	ENST00000220888.5	-	2	593	c.434G>C	c.(433-435)gGg>gCg	p.G145A	TRPS1_ENST00000395715.3_Missense_Mutation_p.G158A|TRPS1_ENST00000520276.1_Missense_Mutation_p.G149A|TRPS1_ENST00000519674.1_Missense_Mutation_p.G145A|TRPS1_ENST00000519076.1_Missense_Mutation_p.G99A			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	145					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G158A(1)|p.G145A(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CAGTGAGTCCCCTGAGGGGGT	0.537									Langer-Giedion syndrome																														uc003ynz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(433-435)GGG>GCG		zinc finger transcription factor TRPS1							77.0	76.0	76.0					8																	116631852		1949	4153	6102	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116631852C>G	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.434G>C	8.37:g.116631852C>G	ENSP00000220888:p.Gly145Ala					TRPS1_uc011lhy.1_Missense_Mutation_p.G149A|TRPS1_uc003yny.2_Missense_Mutation_p.G158A|TRPS1_uc010mcy.2_Missense_Mutation_p.G145A	p.G145A	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		2	893	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		145					B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.434G>C		.	.	.	.	.	.	.	.	.	.	C	13.63	2.294535	0.40594	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98987	-5.12;-5.09;-5.3;-5.09;0.71	5.82	5.82	0.92795	.	0.082013	0.52532	D	0.000077	D	0.96898	0.8987	N	0.19112	0.55	0.43471	D	0.995683	P;P;P	0.40909	0.732;0.612;0.732	B;B;B	0.41988	0.372;0.206;0.372	D	0.97217	0.9875	10	0.62326	D	0.03	-8.0382	14.8829	0.70547	0.1434:0.8566:0.0:0.0	.	149;145;158	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	A	158;145;99;149;145	ENSP00000379065:G158A;ENSP00000220888:G145A;ENSP00000428910:G99A;ENSP00000428680:G149A;ENSP00000429174:G145A	ENSP00000220888:G145A	G	-	2	0	TRPS1	116701027	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.516000	0.45520	2.751000	0.94390	0.650000	0.86243	GGG		0.537	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112		4	96	0	0	0	0.00024832	0	4	96				
TNFRSF11B	4982	broad.mit.edu	37	8	119945315	119945315	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:119945315G>C	ENST00000297350.4	-	2	633	c.255C>G	c.(253-255)ccC>ccG	p.P85P		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	85					apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|negative regulation of bone resorption (GO:0045779)|negative regulation of odontogenesis of dentin-containing tooth (GO:0042489)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to magnesium ion (GO:0032026)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|receptor activity (GO:0004872)	p.P85P(4)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CCTTGCACACGGGGCTGCAGT	0.562																																							uc003yon.3		NA																	4	Substitution - coding silent(4)		lung(4)	central_nervous_system(2)	2						c.(253-255)CCC>CCG		osteoprotegerin precursor							145.0	130.0	135.0					8																	119945315		2203	4300	6503	SO:0001819	synonymous_variant	4982				apoptosis|skeletal system development		cytokine activity|receptor activity	g.chr8:119945315G>C	U94332	CCDS6326.1	8q24	2008-07-31	2008-07-31		ENSG00000164761	ENSG00000164761		"""Tumor necrosis factor receptor superfamily"""	11909	protein-coding gene	gene with protein product		602643	"""osteoprotegerin"""	OPG		9108485	Standard	NM_002546		Approved	OCIF, TR1	uc003yon.4	O00300	OTTHUMG00000164969	ENST00000297350.4:c.255C>G	8.37:g.119945315G>C						TNFRSF11B_uc010mdc.1_RNA	p.P85P	NM_002546	NP_002537	O00300	TR11B_HUMAN	STAD - Stomach adenocarcinoma(47;0.00193)		2	578	-	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		85			TNFR-Cys 2.		B2R9A8|O60236|Q53FX6|Q9UHP4	Silent	SNP	ENST00000297350.4	37	c.255C>G	CCDS6326.1																																																																																				0.562	TNFRSF11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381220.1			4	89	0	0	0	1.23904e-05	0	4	89				
FER1L6	654463	broad.mit.edu	37	8	125022894	125022894	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:125022894G>T	ENST00000522917.1	+	14	1967	c.1761G>T	c.(1759-1761)tgG>tgT	p.W587C	FER1L6_ENST00000399018.1_Missense_Mutation_p.W587C|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	587						integral component of membrane (GO:0016021)		p.W587C(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)			TCAGCTCTTGGGGAGACCAGA	0.458																																							uc003yqw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(5)|central_nervous_system(1)	11						c.(1759-1761)TGG>TGT		fer-1-like 6							184.0	178.0	180.0					8																	125022894		2046	4216	6262	SO:0001583	missense	654463					integral to membrane		g.chr8:125022894G>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.1761G>T	8.37:g.125022894G>T	ENSP00000428280:p.Trp587Cys					uc003yqx.1_Intron	p.W587C	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		14	1967	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		587			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.1761G>T	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824647	0.71143	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.89343	-2.5;-2.5	5.34	5.34	0.76211	.	0.185574	0.38548	U	0.001648	D	0.94631	0.8269	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.95171	0.8290	10	0.87932	D	0	.	17.8032	0.88593	0.0:0.0:1.0:0.0	.	587	Q2WGJ9	FR1L6_HUMAN	C	587	ENSP00000428280:W587C;ENSP00000381982:W587C	ENSP00000381982:W587C	W	+	3	0	FER1L6	125092075	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.110000	0.77069	2.483000	0.83821	0.655000	0.94253	TGG		0.458	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		10	242	1	0	0.00010058	0.00010058	0.00210972	10	242				
KHDRBS3	10656	broad.mit.edu	37	8	136561009	136561009	+	Silent	SNP	A	A	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:136561009A>C	ENST00000355849.5	+	4	747	c.337A>C	c.(337-339)Agg>Cgg	p.R113R	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	113	KH.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R113R(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			AGAAGAGTTGAGGAAAAGTGG	0.358																																							uc003yuv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(337-339)AGG>CGG		KH domain containing, RNA binding, signal							59.0	49.0	52.0					8																	136561009		2203	4300	6503	SO:0001819	synonymous_variant	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136561009A>C	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.337A>C	8.37:g.136561009A>C						KHDRBS3_uc003yuw.2_Silent_p.R113R	p.R113R	NM_006558	NP_006549	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		4	731	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		113			KH.		Q6NUL8|Q9UPA8	Silent	SNP	ENST00000355849.5	37	c.337A>C	CCDS6374.1	.	.	.	.	.	.	.	.	.	.	A	9.836	1.189736	0.21954	.	.	ENSG00000131773	ENST00000524282	.	.	.	5.8	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-24.7632	12.2207	0.54433	0.8575:0.1425:0.0:0.0	.	.	.	.	C	27	.	.	X	+	3	0	KHDRBS3	136630191	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.599000	0.54045	0.988000	0.38734	0.528000	0.53228	TGA		0.358	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1			13	23	0	0	0	0.000308642	0	13	23				
COL22A1	169044	broad.mit.edu	37	8	139629183	139629183	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:139629183C>A	ENST00000303045.6	-	54	4290	c.3844G>T	c.(3844-3846)Ggc>Tgc	p.G1282C	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1262C	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1282	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G1282C(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCAGAATCGCCTGTGTGTCCC	0.577										HNSCC(7;0.00092)																													uc003yvd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(3844-3846)GGC>TGC		collagen, type XXII, alpha 1							81.0	80.0	80.0					8																	139629183		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139629183C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3844G>T	8.37:g.139629183C>A	ENSP00000303153:p.Gly1282Cys	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.G562C	p.G1282C	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		54	4291	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1282			Pro-rich.|Gly-rich.|Collagen-like 12.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3844G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149980	0.37923	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99637	-6.29;-6.29	4.35	4.35	0.52113	.	0.000000	0.49916	D	0.000127	D	0.99764	0.9904	H	0.97852	4.09	0.42723	D	0.993681	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97102	0.9798	10	0.87932	D	0	.	12.6914	0.56976	0.0:1.0:0.0:0.0	.	1262;1282	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	C	1282;1262;975	ENSP00000303153:G1282C;ENSP00000387655:G1262C	ENSP00000303153:G1282C	G	-	1	0	COL22A1	139698365	0.651000	0.27340	0.561000	0.28357	0.692000	0.40212	3.554000	0.53720	2.709000	0.92574	0.555000	0.69702	GGC		0.577	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		18	33	1	0	1.96292e-10	0.000175454	4.49415e-09	18	33				
BAI1	575	broad.mit.edu	37	8	143623435	143623435	+	Silent	SNP	G	G	T	rs575943898	byFrequency	TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:143623435G>T	ENST00000517894.1	+	28	4734	c.3840G>T	c.(3838-3840)ccG>ccT	p.P1280P	BAI1_ENST00000323289.5_Silent_p.P1280P			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1280					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.P1280P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACAGCCTGCCGGCCAACGTGT	0.662																																							uc003ywm.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(3838-3840)CCG>CCT		brain-specific angiogenesis inhibitor 1							23.0	28.0	26.0					8																	143623435		2108	4210	6318	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143623435G>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3840G>T	8.37:g.143623435G>T							p.P1280P	NM_001702	NP_001693	O14514	BAI1_HUMAN			27	4023	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1280			Cytoplasmic (Potential).			Silent	SNP	ENST00000517894.1	37	c.3840G>T																																																																																					0.662	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		7	14	1	0	3.86212e-05	3.86212e-05	0.000822643	7	14				
ZNF623	9831	broad.mit.edu	37	8	144733268	144733268	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:144733268G>T	ENST00000501748.2	+	1	1315	c.1226G>T	c.(1225-1227)gGg>gTg	p.G409V	ZNF623_ENST00000526926.1_Missense_Mutation_p.G369V|ZNF623_ENST00000458270.2_Missense_Mutation_p.G369V	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	409					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.G409V(1)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAGGAATGTGGGAAAGCGTTT	0.468																																							uc003yzd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1225-1227)GGG>GTG		zinc finger protein 623 isoform 1							75.0	71.0	73.0					8																	144733268		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144733268G>T	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.1226G>T	8.37:g.144733268G>T	ENSP00000445979:p.Gly409Val					ZNF623_uc011lkp.1_Missense_Mutation_p.G369V|ZNF623_uc003yzc.2_Missense_Mutation_p.G369V	p.G409V	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	1315	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		409			C2H2-type 11.		A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.1226G>T	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173774	0.57692	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.07567	3.18;3.18;3.18	4.03	3.06	0.35304	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27241	0.0668	H	0.95780	3.72	0.51233	D	0.999914	D	0.53885	0.963	P	0.50231	0.635	T	0.38972	-0.9636	9	0.87932	D	0	-16.7356	10.8031	0.46500	0.0:0.0:0.8105:0.1894	.	409	O75123	ZN623_HUMAN	V	369;369;369;409;409	ENSP00000435232:G369V;ENSP00000411139:G369V;ENSP00000445979:G409V	ENSP00000330358:G369V	G	+	2	0	ZNF623	144804411	1.000000	0.71417	0.934000	0.37439	0.773000	0.43773	3.691000	0.54720	2.241000	0.73720	0.491000	0.48974	GGG		0.468	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		19	49	1	0	6.44725e-10	0.000295444	1.46878e-08	19	49				
EPPK1	83481	broad.mit.edu	37	8	144940387	144940387	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:144940387C>G	ENST00000525985.1	-	2	7106	c.7035G>C	c.(7033-7035)acG>acC	p.T2345T				P58107	EPIPL_HUMAN	epiplakin 1	2345						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.T2345T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGACGCCGCCCGTGGCGATCT	0.692																																							uc003zaa.1		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(15043-15045)ACG>ACC		epiplakin 1							177.0	174.0	175.0					8																	144940387		2166	4227	6393	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940387C>G	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7035G>C	8.37:g.144940387C>G							p.T5015T	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	15058	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		5015			Plectin 64.		Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.15045G>C																																																																																					0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		6	275	0	0	0	8.12818e-05	0	6	275				
SLC52A2	79581	broad.mit.edu	37	8	145583397	145583398	+	Missense_Mutation	DNP	GG	GG	TT	rs377110942		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr8:145583397_145583398GG>TT	ENST00000532887.1	+	3	828_829	c.245_246GG>TT	c.(244-246)cGG>cTT	p.R82L	SLC52A2_ENST00000329994.2_Missense_Mutation_p.R82L|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000526891.1_3'UTR|SLC52A2_ENST00000540505.1_5'UTR|SLC52A2_ENST00000402965.1_Missense_Mutation_p.R82L|SLC52A2_ENST00000527078.1_Missense_Mutation_p.R82L|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000530047.1_Missense_Mutation_p.R82L|FBXL6_ENST00000455319.2_5'Flank|FBXL6_ENST00000526524.1_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	82					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)	p.R82R(1)								Gamma Hydroxybutyric Acid(DB01440)	GTCCCCATCCGGGTGGTGCAGG	0.634																																							uc003zcc.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(244-246)CGG>CTT		G protein-coupled receptor 172A precursor																																				SO:0001583	missense	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583397_145583398GG>TT	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		Exception_encountered	8.37:g.145583397_145583398delinsTT	ENSP00000436768:p.Arg82Leu					FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Missense_Mutation_p.R82L|GPR172A_uc003zce.1_Missense_Mutation_p.R82L|GPR172A_uc010mfy.1_Missense_Mutation_p.R82L|GPR172A_uc003zcf.1_Missense_Mutation_p.R82L|GPR172A_uc011llc.1_5'UTR	p.R82L	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		3	402_403	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		82					A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	DNP	ENST00000532887.1	37	c.245_246GG>TT	CCDS6423.1																																																																																				0.634	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		32	29	0	0	0	6.4e-05	0	32	29				
KIAA2026	158358	broad.mit.edu	37	9	5924840	5924840	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:5924840C>A	ENST00000399933.3	-	7	2503	c.2504G>T	c.(2503-2505)cGc>cTc	p.R835L	KIAA2026_ENST00000381461.2_Missense_Mutation_p.R805L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	835								p.R10L(1)|p.R835L(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TTTCTTCAGGCGGCTCCTGAA	0.308																																							uc003zjq.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(2503-2505)CGC>CTC		hypothetical protein LOC158358							67.0	66.0	66.0					9																	5924840		1810	4068	5878	SO:0001583	missense	158358							g.chr9:5924840C>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2504G>T	9.37:g.5924840C>A	ENSP00000382815:p.Arg835Leu					KIAA2026_uc010mht.2_Missense_Mutation_p.R10L	p.R835L	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	7	2720	-		Acute lymphoblastic leukemia(23;0.158)	835					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.2504G>T		.	.	.	.	.	.	.	.	.	.	C	24.9	4.576711	0.86645	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.55	5.55	0.83447	.	0.000000	0.56097	D	0.000031	T	0.68449	0.3002	L	0.29908	0.895	0.45025	D	0.998041	D	0.89917	1.0	D	0.91635	0.999	T	0.71583	-0.4549	9	0.87932	D	0	-3.5784	19.4969	0.95077	0.0:1.0:0.0:0.0	.	835	Q5HYC2	K2026_HUMAN	L	835;805	.	ENSP00000370870:R805L	R	-	2	0	KIAA2026	5914840	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	7.057000	0.76669	2.597000	0.87782	0.484000	0.47621	CGC		0.308	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		37	25	1	0	8.73648e-17	0.000132358	2.11272e-15	37	25				
CNTLN	54875	broad.mit.edu	37	9	17464545	17464545	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:17464545A>G	ENST00000380647.3	+	21	3539	c.3455A>G	c.(3454-3456)gAc>gGc	p.D1152G	CNTLN_ENST00000425824.1_Missense_Mutation_p.D1152G|CNTLN_ENST00000262360.5_Missense_Mutation_p.D1152G			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1152					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.D1152G(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TTGATAGAGGACTTGAAATTT	0.299																																							uc003zmz.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(3451-3453)GAC>GGC		centlein isoform 1							84.0	87.0	86.0					9																	17464545		1802	4037	5839	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17464545A>G	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.3455A>G	9.37:g.17464545A>G	ENSP00000370021:p.Asp1152Gly					CNTLN_uc003zmy.2_Missense_Mutation_p.D1152G|CNTLN_uc010mio.2_Missense_Mutation_p.D831G	p.D1151G	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	21	3478	+			1152			Potential.		A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.3452A>G	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028087	0.75390	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.30714	1.52;1.52;1.77	5.26	5.26	0.73747	.	.	.	.	.	T	0.53481	0.1799	M	0.72894	2.215	0.44424	D	0.997349	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.65443	0.91;0.935;0.935	T	0.56914	-0.7900	9	0.59425	D	0.04	.	15.4873	0.75575	1.0:0.0:0.0:0.0	.	1152;1152;1152	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	G	1152	ENSP00000370021:D1152G;ENSP00000392798:D1152G;ENSP00000262360:D1152G	ENSP00000262360:D1152G	D	+	2	0	CNTLN	17454545	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	6.799000	0.75160	2.123000	0.65237	0.477000	0.44152	GAC		0.299	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		107	62	0	0	0	0.000147903	0	107	62				
FOCAD	54914	broad.mit.edu	37	9	20881959	20881959	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:20881959C>G	ENST00000380249.1	+	22	2771	c.2407C>G	c.(2407-2409)Cgc>Ggc	p.R803G	FOCAD_ENST00000605086.1_Missense_Mutation_p.R239G|FOCAD_ENST00000338382.6_Missense_Mutation_p.R803G	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	803						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											AGGAGGTGCCCGCTCAGACCA	0.413																																							uc003zog.1		NA																	0				ovary(8)|breast(1)|kidney(1)	10						c.(2407-2409)CGC>GGC		hypothetical protein LOC54914							90.0	98.0	95.0					9																	20881959		2203	4300	6503	SO:0001583	missense	54914					integral to membrane	binding	g.chr9:20881959C>G	AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.2407C>G	9.37:g.20881959C>G	ENSP00000369599:p.Arg803Gly					KIAA1797_uc003zoh.1_Missense_Mutation_p.R239G	p.R803G	NM_017794	NP_060264	Q5VW36	K1797_HUMAN		GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)	22	2770	+			803					D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	ENST00000380249.1	37	c.2407C>G	CCDS34993.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462305	0.43736	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.08634	3.07;3.07	5.82	4.91	0.64330	Armadillo-type fold (1);	0.099890	0.64402	D	0.000002	T	0.10937	0.0267	L	0.58101	1.795	0.47276	D	0.999379	P	0.52577	0.954	B	0.42738	0.396	T	0.03750	-1.1007	10	0.48119	T	0.1	-5.9001	10.1124	0.42570	0.1357:0.7951:0.0:0.0692	.	803	Q5VW36	K1797_HUMAN	G	803	ENSP00000369599:R803G;ENSP00000344307:R803G	ENSP00000344307:R803G	R	+	1	0	KIAA1797	20871959	0.998000	0.40836	0.981000	0.43875	0.750000	0.42670	3.801000	0.55545	1.438000	0.47492	0.555000	0.69702	CGC		0.413	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143442.1	NM_017794		6	106	0	0	0	0.000157383	0	6	106				
TAF1L	138474	broad.mit.edu	37	9	32634374	32634374	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:32634374C>T	ENST00000242310.4	-	1	1293	c.1204G>A	c.(1204-1206)Gag>Aag	p.E402K	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	402					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.E402K(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTAAATTCCTCCATCATTCTA	0.438																																							uc003zrg.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(1204-1206)GAG>AAG		TBP-associated factor RNA polymerase 1-like							230.0	220.0	223.0					9																	32634374		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634374C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1204G>A	9.37:g.32634374C>T	ENSP00000418379:p.Glu402Lys					uc003zrh.1_RNA	p.E402K	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1294	-			402					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1204G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.234084	0.22626	.	.	ENSG00000122728	ENST00000242310	T	0.08546	3.08	0.479	0.479	0.16796	.	0.555585	0.19876	N	0.104093	T	0.04137	0.0115	N	0.15975	0.35	0.19575	N	0.999963	B	0.02656	0.0	B	0.04013	0.001	T	0.41610	-0.9499	9	0.26408	T	0.33	.	.	.	.	.	402	Q8IZX4	TAF1L_HUMAN	K	402	ENSP00000418379:E402K	ENSP00000418379:E402K	E	-	1	0	TAF1L	32624374	0.006000	0.16342	0.079000	0.20413	0.030000	0.12068	0.433000	0.21477	0.507000	0.28148	0.195000	0.17529	GAG		0.438	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			87	127	0	0	0	0.000147903	0	87	127				
DCAF12	25853	broad.mit.edu	37	9	34098434	34098434	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:34098434C>G	ENST00000361264.4	-	5	1024	c.683G>C	c.(682-684)cGg>cCg	p.R228P	RP11-537H15.3_ENST00000448245.1_RNA	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	228					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)		p.R228P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CACAGGGACCCGTGACACATT	0.517																																							uc003ztt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(682-684)CGG>CCG		DDB1 and CUL4 associated factor 12							310.0	245.0	267.0					9																	34098434		2203	4300	6503	SO:0001583	missense	25853					centrosome|CUL4 RING ubiquitin ligase complex		g.chr9:34098434C>G	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.683G>C	9.37:g.34098434C>G	ENSP00000355114:p.Arg228Pro						p.R228P	NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN			5	1025	-			228					A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	ENST00000361264.4	37	c.683G>C	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	C	9.985	1.229239	0.22542	.	.	ENSG00000198876	ENST00000361264;ENST00000396990	T;T	0.59502	2.19;0.26	5.51	-4.72	0.03269	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.033650	0.07605	N	0.924410	T	0.40015	0.1100	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.21552	-1.0242	10	0.25106	T	0.35	-19.8445	9.3431	0.38091	0.0:0.307:0.1029:0.5901	.	228	Q5T6F0	DCA12_HUMAN	P	228;210	ENSP00000355114:R228P;ENSP00000380187:R210P	ENSP00000355114:R228P	R	-	2	0	DCAF12	34088434	0.000000	0.05858	0.119000	0.21687	0.859000	0.49053	-0.167000	0.09940	-1.496000	0.01828	0.655000	0.94253	CGG		0.517	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2	NM_015397		4	85	0	0	0	1.23904e-05	0	4	85				
GRHPR	9380	broad.mit.edu	37	9	37436696	37436696	+	Missense_Mutation	SNP	C	C	G	rs180177322		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:37436696C>G	ENST00000318158.6	+	9	989	c.904C>G	c.(904-906)Cgc>Ggc	p.R302G		NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	302					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)	p.R302G(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CCACAGAACCCGCAACACCAT	0.552																																							uc003zzu.1		NA																	1	Substitution - Missense(1)		lung(1)		0	GRCh37	CM033387	GRHPR	M		c.(904-906)CGC>GGC		glyoxylate reductase/hydroxypyruvate reductase							207.0	202.0	204.0					9																	37436696		2203	4300	6503	SO:0001583	missense	9380				cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	g.chr9:37436696C>G	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.904C>G	9.37:g.37436696C>G	ENSP00000313432:p.Arg302Gly					GRHPR_uc003zzt.1_Missense_Mutation_p.R222G|GRHPR_uc003zzw.1_Missense_Mutation_p.R159G	p.R302G	NM_012203	NP_036335	Q9UBQ7	GRHPR_HUMAN		GBM - Glioblastoma multiforme(29;0.00687)	9	945	+			302					Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	ENST00000318158.6	37	c.904C>G	CCDS6609.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372177	0.61624	.	.	ENSG00000137106	ENST00000318158	D	0.85013	-1.93	5.76	5.76	0.90799	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);	.	.	.	.	D	0.94545	0.8243	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95400	0.8489	9	0.87932	D	0	.	14.6077	0.68493	0.2612:0.7388:0.0:0.0	.	315;302	Q5M7Z5;Q9UBQ7	.;GRHPR_HUMAN	G	302	ENSP00000313432:R302G	ENSP00000313432:R302G	R	+	1	0	GRHPR	37426696	0.910000	0.30920	1.000000	0.80357	0.436000	0.31835	1.879000	0.39618	2.871000	0.98454	0.655000	0.94253	CGC		0.552	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		4	148	0	0	0	0.00024832	0	4	148				
SPATA31A6	389730	broad.mit.edu	37	9	43624974	43624975	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:43624974_43624975GG>TT	ENST00000332857.6	-	4	3740_3741	c.3712_3713CC>AA	c.(3712-3714)CCa>AAa	p.P1238K	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1238					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P1238Q(1)									CCCACAGACTGGGGCTTGAAAC	0.5																																							uc011lrb.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(3712-3714)CCA>AAA		hypothetical protein LOC389730																																				SO:0001583	missense	389730					integral to membrane		g.chr9:43624974_43624975GG>TT		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.3712_3713delinsTT	9.37:g.43624974_43624975delinsTT	ENSP00000329825:p.Pro1238Lys						p.P1238K	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	3741_3742	-			1238						Missense_Mutation	DNP	ENST00000332857.6	37	c.3712_3713CC>AA	CCDS47973.1																																																																																				0.500	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		11	396	0	0	0	6.4e-05	0	11	396				
DAPK1	1612	broad.mit.edu	37	9	90255752	90255752	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:90255752C>G	ENST00000408954.3	+	9	1153	c.818C>G	c.(817-819)cCc>cGc	p.P273R	DAPK1_ENST00000469640.2_Missense_Mutation_p.P273R|DAPK1_ENST00000491893.1_Missense_Mutation_p.P273R|DAPK1_ENST00000358077.5_Missense_Mutation_p.P273R|DAPK1_ENST00000472284.1_Missense_Mutation_p.P273R	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	273	Calmodulin-binding.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P273R(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TTGCAGCATCCCTGGATCAAG	0.408									Chronic Lymphocytic Leukemia, Familial Clustering of																														uc004apc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(817-819)CCC>CGC		death-associated protein kinase 1							206.0	187.0	193.0					9																	90255752		1951	4155	6106	SO:0001583	missense	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90255752C>G	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.818C>G	9.37:g.90255752C>G	ENSP00000386135:p.Pro273Arg					DAPK1_uc004ape.2_Missense_Mutation_p.P273R|DAPK1_uc004apd.2_Missense_Mutation_p.P273R|DAPK1_uc011ltg.1_Missense_Mutation_p.P273R|DAPK1_uc011lth.1_Missense_Mutation_p.P10R	p.P273R	NM_004938	NP_004929	P53355	DAPK1_HUMAN			9	956	+			273			Protein kinase.|Calmodulin-binding.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	c.818C>G	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705427	0.89018	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.06	5.06	0.68205	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	0.49916	D	0.000122	T	0.67069	0.2854	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.97110	0.999;1.0;0.971	T	0.68934	-0.5278	10	0.87932	D	0	.	18.9924	0.92798	0.0:1.0:0.0:0.0	.	273;273;273	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	R	273	ENSP00000350785:P273R;ENSP00000417076:P273R;ENSP00000418885:P273R;ENSP00000386135:P273R;ENSP00000419026:P273R	ENSP00000350785:P273R	P	+	2	0	DAPK1	89445572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.783000	0.95769	0.655000	0.94253	CCC		0.408	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938		4	141	0	0	0	3.59834e-05	0	4	141				
GRIN3A	116443	broad.mit.edu	37	9	104433278	104433278	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:104433278G>C	ENST00000361820.3	-	3	2016	c.1416C>G	c.(1414-1416)ccC>ccG	p.P472P		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	472					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.P472P(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GCTTTCCCATGGGGTCATGTT	0.502																																							uc004bbp.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1414-1416)CCC>CCG		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						154.0	157.0	156.0					9																	104433278		2203	4300	6503	SO:0001819	synonymous_variant	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104433278G>C		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1416C>G	9.37:g.104433278G>C						GRIN3A_uc004bbq.1_Silent_p.P472P	p.P472P	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			3	2017	-		Acute lymphoblastic leukemia(62;0.0568)	472			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.1416C>G	CCDS6758.1																																																																																				0.502	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			6	249	0	0	0	0.000274275	0	6	249				
ABCA1	19	broad.mit.edu	37	9	107578466	107578466	+	Silent	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:107578466C>G	ENST00000374736.3	-	25	4090	c.3696G>C	c.(3694-3696)ctG>ctC	p.L1232L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1232					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.L1232L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TAGAAATGCCCAGGTCTGAGA	0.483																																							uc004bcl.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(3694-3696)CTG>CTC		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						164.0	173.0	170.0					9																	107578466		2203	4300	6503	SO:0001819	synonymous_variant	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107578466C>G	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3696G>C	9.37:g.107578466C>G							p.L1232L	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	25	4009	-			1232					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	ENST00000374736.3	37	c.3696G>C	CCDS6762.1																																																																																				0.483	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		6	299	0	0	0	8.12818e-05	0	6	299				
SLC44A1	23446	broad.mit.edu	37	9	108120644	108120644	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:108120644G>T	ENST00000374720.3	+	7	937	c.690G>T	c.(688-690)atG>atT	p.M230I	SLC44A1_ENST00000343170.7_Missense_Mutation_p.M22I|SLC44A1_ENST00000374723.1_Missense_Mutation_p.M230I|SLC44A1_ENST00000374724.1_Missense_Mutation_p.M230I	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	230					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)	p.M230I(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGATTTTGATGGTGATAATCA	0.323																																							uc004bcn.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(688-690)ATG>ATT		CDW92 antigen	Choline(DB00122)						216.0	202.0	207.0					9																	108120644		2203	4299	6502	SO:0001583	missense	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108120644G>T	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.690G>T	9.37:g.108120644G>T	ENSP00000363852:p.Met230Ile					SLC44A1_uc010mtk.1_Missense_Mutation_p.M230I|SLC44A1_uc004bco.1_Missense_Mutation_p.M22I	p.M230I	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN			7	911	+			230			Helical; (Potential).		A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	c.690G>T	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346811	0.41599	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.14893	3.42;3.42;3.44;2.47	5.61	5.61	0.85477	.	0.034484	0.85682	D	0.000000	T	0.16599	0.0399	L	0.45581	1.43	0.50632	D	0.999889	B;B;B	0.10296	0.003;0.003;0.001	B;B;B	0.15052	0.012;0.012;0.001	T	0.11421	-1.0588	10	0.02654	T	1	-5.6478	19.2464	0.93904	0.0:0.0:1.0:0.0	.	230;230;230	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	I	230;230;230;22	ENSP00000363855:M230I;ENSP00000363852:M230I;ENSP00000363856:M230I;ENSP00000341856:M22I	ENSP00000341856:M22I	M	+	3	0	SLC44A1	107160465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.379000	0.97198	2.625000	0.88918	0.643000	0.83706	ATG		0.323	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		59	90	1	0	6.70656e-16	0.000147903	1.61051e-14	59	90				
IKBKAP	8518	broad.mit.edu	37	9	111693348	111693348	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:111693348G>C	ENST00000374647.5	-	2	386	c.79C>G	c.(79-81)Cga>Gga	p.R27G	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	27					chromatin organization (GO:0006325)|immune response (GO:0006955)|positive regulation of cell migration (GO:0030335)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)|signal transducer activity (GO:0004871)	p.R27G(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGTTCAGTTCGGAGAGAGAAG	0.473																																							uc004bdm.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	7						c.(79-81)CGA>GGA		inhibitor of kappa light polypeptide gene							177.0	158.0	164.0					9																	111693348		2203	4300	6503	SO:0001583	missense	8518				immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	g.chr9:111693348G>C	AF044195	CCDS6773.1	9q31	2014-09-17	2003-12-02		ENSG00000070061	ENSG00000070061		"""Elongator acetyltransferase complex subunits"""	5959	protein-coding gene	gene with protein product	"""elongator acetyltransferase complex subunit 1"""	603722	"""dysautonomia (Riley-Day syndrome, hereditary sensory autonomic neuropathy type III)"""	DYS		9751059, 11179008	Standard	NM_003640		Approved	IKAP, TOT1, ELP1, IKI3	uc004bdm.4	O95163	OTTHUMG00000020465	ENST00000374647.5:c.79C>G	9.37:g.111693348G>C	ENSP00000363779:p.Arg27Gly					IKBKAP_uc011lwc.1_Intron|IKBKAP_uc010mtq.2_Intron	p.R27G	NM_003640	NP_003631	O95163	ELP1_HUMAN			2	599	-			27					Q5JSV2|Q9H327|Q9UG87	Missense_Mutation	SNP	ENST00000374647.5	37	c.79C>G	CCDS6773.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184456	0.38609	.	.	ENSG00000070061	ENST00000374647	T	0.05319	3.46	4.95	4.05	0.47172	.	0.118844	0.56097	D	0.000028	T	0.06554	0.0168	L	0.46157	1.445	0.80722	D	1	B	0.28055	0.199	B	0.26310	0.068	T	0.31024	-0.9958	10	0.16896	T	0.51	-3.255	11.1534	0.48473	0.0908:0.0:0.9092:0.0	.	27	O95163	ELP1_HUMAN	G	27	ENSP00000363779:R27G	ENSP00000363779:R27G	R	-	1	2	IKBKAP	110733169	0.991000	0.36638	0.972000	0.41901	0.778000	0.44026	1.310000	0.33551	1.205000	0.43262	0.650000	0.86243	CGA		0.473	IKBKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053574.1			4	115	0	0	0	0.00024832	0	4	115				
KIAA1958	158405	broad.mit.edu	37	9	115337393	115337393	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:115337393C>A	ENST00000337530.6	+	2	1329	c.1033C>A	c.(1033-1035)Cat>Aat	p.H345N	KIAA1958_ENST00000374244.3_Missense_Mutation_p.H345N|KIAA1958_ENST00000536272.1_Missense_Mutation_p.H345N	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	345								p.H345N(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GTTCCTGTCCCATCTGCCCAG	0.567																																							uc004bgf.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1033-1035)CAT>AAT		hypothetical protein LOC158405							157.0	148.0	151.0					9																	115337393		2203	4300	6503	SO:0001583	missense	158405							g.chr9:115337393C>A	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1033C>A	9.37:g.115337393C>A	ENSP00000336940:p.His345Asn					KIAA1958_uc011lwx.1_Missense_Mutation_p.H345N	p.H345N	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN			2	1208	+			345					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	ENST00000337530.6	37	c.1033C>A	CCDS35108.1	.	.	.	.	.	.	.	.	.	.	C	8.710	0.911925	0.17907	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	T;T;T	0.41065	1.01;1.01;1.01	5.92	4.97	0.65823	.	0.144114	0.48286	D	0.000192	T	0.19846	0.0477	N	0.08118	0	0.33070	D	0.535249	B;B	0.30664	0.289;0.016	B;B	0.23275	0.045;0.019	T	0.21965	-1.0230	10	0.15952	T	0.53	-22.6907	11.719	0.51670	0.0:0.8075:0.1246:0.068	.	345;345	B7ZKW6;Q8N8K9	.;K1958_HUMAN	N	345	ENSP00000336940:H345N;ENSP00000363362:H345N;ENSP00000440504:H345N	ENSP00000336940:H345N	H	+	1	0	KIAA1958	114377214	0.697000	0.27767	1.000000	0.80357	0.999000	0.98932	2.058000	0.41374	2.804000	0.96469	0.655000	0.94253	CAT		0.567	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		9	119	1	0	0.000274275	0.000274275	0.00558288	9	119				
ASTN2	23245	broad.mit.edu	37	9	119770371	119770371	+	Splice_Site	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:119770371C>A	ENST00000313400.4	-	7	1691	c.1591G>T	c.(1591-1593)Gga>Tga	p.G531*	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Splice_Site_p.G531*|ASTN2_ENST00000361209.2_Splice_Site_p.G480*			O75129	ASTN2_HUMAN	astrotactin 2	531	EGF-like 1.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.G480R(1)|p.G480*(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CATGGCTCACCGGTTTCTGGG	0.557																																							uc004bjs.1		NA																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(1)|endometrium(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(1591-1593)GGA>TGA		astrotactin 2 isoform c							57.0	54.0	55.0					9																	119770371		2203	4300	6503	SO:0001630	splice_region_variant	23245					integral to membrane		g.chr9:119770371C>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1591+1G>T	9.37:g.119770371C>A						ASTN2_uc004bjr.1_Nonsense_Mutation_p.G531*|ASTN2_uc004bjt.1_Nonsense_Mutation_p.G480*	p.G531*	NM_198187	NP_937830	O75129	ASTN2_HUMAN			7	1692	-			531			Extracellular (Potential).|EGF-like 1.		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Nonsense_Mutation	SNP	ENST00000313400.4	37	c.1591G>T		.	.	.	.	.	.	.	.	.	.	C	38	6.757965	0.97817	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.7235	19.7848	0.96432	0.0:1.0:0.0:0.0	.	.	.	.	X	531;531;258;480	.	.	G	-	1	0	ASTN2	118810192	1.000000	0.71417	0.961000	0.40146	0.256000	0.26092	7.684000	0.84104	2.673000	0.90976	0.655000	0.94253	GGA		0.557	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	Nonsense_Mutation	16	31	1	0	1.67942e-08	7.07596e-05	3.80078e-07	16	31				
TLR4	7099	broad.mit.edu	37	9	120475790	120475790	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:120475790G>C	ENST00000355622.6	+	3	1485	c.1384G>C	c.(1384-1386)Gct>Cct	p.A462P	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.A422P	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	462					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.A462P(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)	CACCAGAGTTGCTTTCAATGG	0.398																																							uc004bjz.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(1384-1386)GCT>CCT		toll-like receptor 4 precursor							103.0	104.0	104.0					9																	120475790		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.chr9:120475790G>C	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1384G>C	9.37:g.120475790G>C	ENSP00000363089:p.Ala462Pro					TLR4_uc004bka.2_Missense_Mutation_p.A422P|TLR4_uc004bkb.2_Missense_Mutation_p.A262P	p.A462P	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	1675	+			462			Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.1384G>C	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270210	0.23221	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.57595	0.39;0.39	5.92	1.56	0.23342	.	1.601970	0.03012	N	0.149608	T	0.50956	0.1646	N	0.16708	0.43	0.09310	N	1	P	0.51933	0.949	P	0.54856	0.762	T	0.44757	-0.9307	10	0.52906	T	0.07	.	7.0908	0.25283	0.3403:0.1224:0.5373:0.0	.	462	O00206	TLR4_HUMAN	P	422;462	ENSP00000377997:A422P;ENSP00000363089:A462P	ENSP00000363089:A462P	A	+	1	0	TLR4	119515611	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	0.029000	0.13666	0.421000	0.25980	0.650000	0.86243	GCT		0.398	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		60	80	0	0	0	0.000147903	0	60	80				
MEGF9	1955	broad.mit.edu	37	9	123367659	123367659	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:123367659C>A	ENST00000373930.3	-	6	1729	c.1618G>T	c.(1618-1620)Gag>Tag	p.E540*	MEGF9_ENST00000426959.1_Nonsense_Mutation_p.E577*	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	540						integral component of membrane (GO:0016021)		p.E577*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TTTTGGTACTCGCGGTACATA	0.438																																							uc004bkj.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1729-1731)GAG>TAG		multiple EGF-like-domains 9							156.0	148.0	150.0					9																	123367659		1919	4150	6069	SO:0001587	stop_gained	1955					integral to membrane	calcium ion binding	g.chr9:123367659C>A	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1618G>T	9.37:g.123367659C>A	ENSP00000363040:p.Glu540*					MEGF9_uc011lyb.1_Nonsense_Mutation_p.E532*	p.E577*	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN			8	1729	-			540			Cytoplasmic (Potential).		B7Z315|O75098	Nonsense_Mutation	SNP	ENST00000373930.3	37	c.1729G>T	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	C	34	5.312711	0.95655	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-10.6716	17.9533	0.89061	0.0:1.0:0.0:0.0	.	.	.	.	X	540;577	.	ENSP00000363040:E540X	E	-	1	0	MEGF9	122407480	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	7.175000	0.77632	2.687000	0.91594	0.655000	0.94253	GAG		0.438	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		7	175	1	0	0.000274275	0.000274275	0.00558288	7	175				
SWI5	375757	broad.mit.edu	37	9	131039032	131039032	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:131039032C>G	ENST00000320188.5	+	2	424	c.424C>G	c.(424-426)Cct>Gct	p.P142A	GOLGA2_ENST00000609374.1_5'Flank|SWI5_ENST00000608796.1_Missense_Mutation_p.P77A|SWI5_ENST00000418976.1_Missense_Mutation_p.P37A|GOLGA2_ENST00000421699.2_5'Flank|SWI5_ENST00000419867.2_Missense_Mutation_p.P77A|GOLGA2_ENST00000490628.1_5'Flank|SWI5_ENST00000495313.1_Missense_Mutation_p.P46A	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	142					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)		p.P142A(1)									CTTCCGATCCCCTGTGAGTAT	0.607																																							uc004bup.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(424-426)CCT>GCT		hypothetical protein LOC375757							102.0	111.0	108.0					9																	131039032		1915	4114	6029	SO:0001583	missense	375757				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr9:131039032C>G	BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 119"""	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.424C>G	9.37:g.131039032C>G	ENSP00000316609:p.Pro142Ala					GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Missense_Mutation_p.P142A	p.P142A	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN			2	424	+			142					Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	ENST00000320188.5	37	c.424C>G	CCDS43883.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.38|15.38	2.815941|2.815941	0.50527|0.50527	.|.	.|.	ENSG00000175854|ENSG00000175854	ENST00000320188|ENST00000418976	.|.	.|.	.|.	4.73|4.73	3.79|3.79	0.43588|0.43588	.|.	0.077939|0.077939	0.49305|0.49305	D|D	0.000145|0.000145	T|T	0.34048|0.34048	0.0884|0.0884	L|L	0.29908|0.29908	0.895|0.895	0.22226|0.22226	N|N	0.999278|0.999278	D|.	0.69078|.	0.997|.	D|.	0.63597|.	0.916|.	T|T	0.15954|0.15954	-1.0419|-1.0419	9|6	0.66056|.	D|.	0.02|.	.|.	10.2387|10.2387	0.43299|0.43299	0.1963:0.8037:0.0:0.0|0.1963:0.8037:0.0:0.0	.|.	142|.	Q1ZZU3|.	SWI5_HUMAN|.	A|R	142|69	.|.	ENSP00000316609:P142A|.	P|P	+|+	1|2	0|0	SWI5|SWI5	130078853|130078853	0.990000|0.990000	0.36364|0.36364	0.997000|0.997000	0.53966|0.53966	0.101000|0.101000	0.19017|0.19017	3.490000|3.490000	0.53245|0.53245	2.453000|2.453000	0.82957|0.82957	0.650000|0.650000	0.86243|0.86243	CCT|CCC		0.607	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001040011		52	87	0	0	0	0.000147903	0	52	87				
WDR34	89891	broad.mit.edu	37	9	131403138	131403138	+	Silent	SNP	C	C	T	rs137886760		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:131403138C>T	ENST00000372715.2	-	2	327	c.267G>A	c.(265-267)acG>acA	p.T89T		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	89						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)		p.T89T(1)		central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CGGGGGCCTCCGTCTGCACCT	0.632																																							uc004bvq.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(265-267)ACG>ACA		WD repeat domain 34		C		0,4406		0,0,2203	45.0	44.0	44.0		267	-10.7	0.3	9	dbSNP_134	44	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WDR34	NM_052844.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		89/537	131403138	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	89891					cytoplasm		g.chr9:131403138C>T	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.267G>A	9.37:g.131403138C>T						WDR34_uc004bvs.1_Silent_p.T89T|WDR34_uc004bvr.1_Silent_p.T89T|WDR34_uc011mbi.1_5'UTR	p.T89T	NM_052844	NP_443076	Q96EX3	WDR34_HUMAN			2	391	-			89					Q5VXV4|Q9BV46	Silent	SNP	ENST00000372715.2	37	c.267G>A	CCDS6906.2																																																																																				0.632	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		17	28	0	0	0	7.07596e-05	0	17	28				
TSC1	7248	broad.mit.edu	37	9	135776981	135776981	+	Missense_Mutation	SNP	G	G	T	rs118203700		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:135776981G>T	ENST00000298552.3	-	19	2718	c.2497C>A	c.(2497-2499)Caa>Aaa	p.Q833K	TSC1_ENST00000440111.2_Missense_Mutation_p.Q833K|TSC1_ENST00000545250.1_Missense_Mutation_p.Q782K	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	833					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.Q833K(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTTACCTTTTGGGAAACCTGA	0.458			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc004cca.2		NA	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			2	Substitution - Missense(1)|Unknown(1)	p.?(1)	lung(1)|bone(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14	GRCh37	CM981940	TSC1	M	rs67005768	c.(2497-2499)CAA>AAA		tuberous sclerosis 1 protein isoform 1							186.0	172.0	177.0					9																	135776981		2203	4300	6503	SO:0001583	missense	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135776981G>T	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.2497C>A	9.37:g.135776981G>T	ENSP00000298552:p.Gln833Lys		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1620	TSC1_uc004ccb.3_Missense_Mutation_p.Q832K|TSC1_uc011mcq.1_Missense_Mutation_p.Q782K|TSC1_uc011mcr.1_Intron	p.Q833K	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	19	2731	-			833			Potential.		B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.2497C>A	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	G	5.403	0.259554	0.10239	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	T;T;T	0.81415	-1.49;-1.49;-1.3	5.24	4.31	0.51392	.	0.373052	0.30901	N	0.008647	T	0.78201	0.4246	L	0.60455	1.87	0.80722	D	1	P;P	0.48998	0.918;0.918	B;P	0.46885	0.428;0.53	T	0.75093	-0.3439	10	0.07990	T	0.79	-15.0795	13.9556	0.64147	0.0:0.0:0.847:0.1529	.	782;833	B7Z897;Q92574	.;TSC1_HUMAN	K	833;833;782	ENSP00000298552:Q833K;ENSP00000394524:Q833K;ENSP00000444017:Q782K	ENSP00000298552:Q833K	Q	-	1	0	TSC1	134766802	1.000000	0.71417	0.683000	0.30040	0.575000	0.36095	3.609000	0.54117	1.146000	0.42352	0.563000	0.77884	CAA		0.458	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			10	244	1	0	2.17888e-05	0.000442599	0.000469192	10	244				
TSC1	7248	broad.mit.edu	37	9	135786490	135786490	+	Missense_Mutation	SNP	C	C	A	rs118203490		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:135786490C>A	ENST00000298552.3	-	11	1261	c.1040G>T	c.(1039-1041)tGg>tTg	p.W347L	TSC1_ENST00000440111.2_Missense_Mutation_p.W347L|TSC1_ENST00000545250.1_Missense_Mutation_p.W296L	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	347					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.W347L(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AGATGGGCTCCAAAGAGTAGC	0.443			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														uc004cca.2		NA	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	D|Mis|N|F|S	tuberous sclerosis 1 gene			"""E, O"""		hamartoma|renal cell			2	Substitution - Missense(1)|Unknown(1)	p.?(1)	lung(1)|bone(1)	lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14	GRCh37	CM090920	TSC1	M	rs118203490	c.(1039-1041)TGG>TTG		tuberous sclerosis 1 protein isoform 1							474.0	450.0	458.0					9																	135786490		2203	4300	6503	SO:0001583	missense	7248	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135786490C>A	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1040G>T	9.37:g.135786490C>A	ENSP00000298552:p.Trp347Leu					TSC1_uc004ccb.3_Missense_Mutation_p.W347L|TSC1_uc011mcq.1_Missense_Mutation_p.W296L|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Missense_Mutation_p.W226L|TSC1_uc004ccc.1_Missense_Mutation_p.W347L|TSC1_uc004ccd.2_3'UTR|TSC1_uc004cce.1_3'UTR	p.W347L	NM_000368	NP_000359	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	11	1274	-			347					B7Z897|Q5VVN5	Missense_Mutation	SNP	ENST00000298552.3	37	c.1040G>T	CCDS6956.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306058	0.81247	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250;ENST00000424271	D;D;D	0.90261	-2.64;-2.64;-2.64	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.95465	0.8527	M	0.77103	2.36	0.80722	D	1	D;D;D;P	0.89917	1.0;0.977;0.998;0.587	D;P;D;B	0.83275	0.996;0.859;0.975;0.375	D	0.95492	0.8570	10	0.72032	D	0.01	-7.6563	18.8293	0.92132	0.0:1.0:0.0:0.0	.	296;347;347;347	B7Z897;Q59IT9;Q32NF0;Q92574	.;.;.;TSC1_HUMAN	L	347;347;296;226	ENSP00000298552:W347L;ENSP00000394524:W347L;ENSP00000444017:W296L	ENSP00000298552:W347L	W	-	2	0	TSC1	134776311	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.298000	0.78815	2.683000	0.91414	0.655000	0.94253	TGG		0.443	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			22	579	1	0	3.10358e-05	0.000295444	0.00066727	22	579				
FCN2	2220	broad.mit.edu	37	9	137772704	137772704	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:137772704G>T	ENST00000291744.6	+	1	47	c.37G>T	c.(37-39)Gcc>Tcc	p.A13S	FCN2_ENST00000350339.2_Missense_Mutation_p.A13S	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	13					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)	p.A13S(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CCTGGGCGCTGCCACCCTGCT	0.612																																							uc004cfg.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(37-39)GCC>TCC		ficolin 2 isoform a precursor							43.0	49.0	47.0					9																	137772704		2203	4300	6503	SO:0001583	missense	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137772704G>T	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.37G>T	9.37:g.137772704G>T	ENSP00000291744:p.Ala13Ser					FCN2_uc004cfh.1_Missense_Mutation_p.A13S	p.A13S	NM_004108	NP_004099	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	1	47	+		Myeloproliferative disorder(178;0.0333)	13					A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	37	c.37G>T	CCDS6983.1	.	.	.	.	.	.	.	.	.	.	G	1.592	-0.528723	0.04112	.	.	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.58210	0.35;0.68	0.986	-1.12	0.09808	.	.	.	.	.	T	0.26846	0.0657	N	0.17082	0.46	0.09310	N	1	B;B	0.14438	0.01;0.002	B;B	0.11329	0.006;0.003	T	0.23261	-1.0193	9	0.08599	T	0.76	.	4.0727	0.09889	0.4597:0.0:0.5403:0.0	.	13;13	Q15485-2;Q15485	.;FCN2_HUMAN	S	13	ENSP00000291741:A13S;ENSP00000291744:A13S	ENSP00000291744:A13S	A	+	1	0	FCN2	136912525	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.226000	0.02953	-0.499000	0.06623	-0.469000	0.05056	GCC		0.612	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		16	20	1	0	1.50039e-11	0.000229342	3.47565e-10	16	20				
AGPAT2	10555	broad.mit.edu	37	9	139571543	139571543	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:139571543C>G	ENST00000371696.2	-	3	427	c.362G>C	c.(361-363)cGg>cCg	p.R121P	AGPAT2_ENST00000371694.3_Missense_Mutation_p.R121P|AGPAT2_ENST00000538402.1_Missense_Mutation_p.R121P	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	121					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.R121P(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GAGCAGCTCCCGCTTGGCGAT	0.632																																							uc004cii.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(361-363)CGG>CCG		1-acylglycerol-3-phosphate O-acyltransferase 2							63.0	71.0	68.0					9																	139571543		2203	4300	6503	SO:0001583	missense	10555				phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr9:139571543C>G	AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	325	protein-coding gene	gene with protein product	"""LPAAT-beta"", ""lysophosphatidic acid acyltransferase, beta"""	603100	"""Berardinelli-Seip congenital lipodystrophy"", ""1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"""	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.362G>C	9.37:g.139571543C>G	ENSP00000360761:p.Arg121Pro					AGPAT2_uc004cij.1_Missense_Mutation_p.R121P	p.R121P	NM_006412	NP_006403	O15120	PLCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	3	464	-	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)	121					O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Missense_Mutation	SNP	ENST00000371696.2	37	c.362G>C	CCDS7003.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337619	0.81911	.	.	ENSG00000169692	ENST00000371694;ENST00000371696;ENST00000538402	D;D;D	0.97378	-4.36;-4.36;-4.36	4.75	3.84	0.44239	Phospholipid/glycerol acyltransferase (2);1-acyl-sn-glycerol-3-phosphate acyltransferase (1);	0.057772	0.64402	D	0.000003	D	0.97932	0.9320	M	0.86573	2.825	0.49483	D	0.999792	D;D	0.89917	0.999;1.0	D;D	0.74348	0.98;0.983	D	0.97680	1.0172	10	0.87932	D	0	-17.4509	5.0903	0.14704	0.0:0.7117:0.0:0.2883	.	121;121	O15120-2;O15120	.;PLCB_HUMAN	P	121	ENSP00000360759:R121P;ENSP00000360761:R121P;ENSP00000438919:R121P	ENSP00000360759:R121P	R	-	2	0	AGPAT2	138691364	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.563000	0.45922	2.175000	0.68902	0.563000	0.77884	CGG		0.632	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412		4	69	0	0	0	1.23904e-05	0	4	69				
SAPCD2	89958	broad.mit.edu	37	9	139960771	139960771	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:139960771G>C	ENST00000409687.3	-	2	754	c.627C>G	c.(625-627)ccC>ccG	p.P209P	RP11-229P13.23_ENST00000456356.2_RNA	NM_178448.3	NP_848543.2	Q86UD0	SAPC2_HUMAN	suppressor APC domain containing 2	209						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.P204P(1)									CTCGGGCACGGGGAGCCCGCC	0.701																																							uc011men.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(625-627)CCC>CCG		tumor specificity and mitosis phase-dependent							13.0	15.0	14.0					9																	139960771		2186	4285	6471	SO:0001819	synonymous_variant	89958					cytoplasm|nucleus		g.chr9:139960771G>C	BC024299	CCDS7027.2	9q34.3	2012-02-08	2012-02-08	2012-02-08	ENSG00000186193	ENSG00000186193			28055	protein-coding gene	gene with protein product		612057	"""chromosome 9 open reading frame 140"""	C9orf140		12477932	Standard	NM_178448		Approved	p42.3	uc011men.2	Q86UD0	OTTHUMG00000020961	ENST00000409687.3:c.627C>G	9.37:g.139960771G>C							p.P209P	NM_178448	NP_848543	Q86UD0	CI140_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;3.02e-05)|Epithelial(140;0.000499)	2	743	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	209						Silent	SNP	ENST00000409687.3	37	c.627C>G	CCDS7027.2																																																																																				0.701	SAPCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055215.2	NM_178448		3	16	0	0	0	1.23904e-05	0	3	16				
ASMTL	8623	broad.mit.edu	37	X	1546691	1546691	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:1546691C>G	ENST00000381317.3	-	7	865	c.833G>C	c.(832-834)cGg>cCg	p.R278P	ASMTL_ENST00000416733.2_Missense_Mutation_p.R202P|ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000381333.4_Missense_Mutation_p.R262P|ASMTL_ENST00000534940.1_Missense_Mutation_p.R220P	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	278	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)	p.R278P(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		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)				CAGGGTCTCCCGAGTCCTGTG	0.637																																							uc004cpx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(832-834)CGG>CCG		acetylserotonin O-methyltransferase-like							93.0	117.0	109.0					X																	1546691		2113	4217	6330	SO:0001583	missense	8623				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity	g.chrX:1546691C>G	Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.833G>C	X.37:g.1546691C>G	ENSP00000370718:p.Arg278Pro					ASMTL_uc011mhe.1_Missense_Mutation_p.R202P|ASMTL_uc004cpy.1_Missense_Mutation_p.R262P|ASMTL_uc011mhf.1_Missense_Mutation_p.R220P	p.R278P	NM_004192	NP_004183	O95671	ASML_HUMAN			7	944	-		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)	278			ASMT-like.		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	ENST00000381317.3	37	c.833G>C	CCDS43917.1	.	.	.	.	.	.	.	.	.	.	c	0.417	-0.910253	0.02434	.	.	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	1.3	-2.6	0.06190	.	4.019540	0.01415	U	0.014148	T	0.24431	0.0592	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.29232	0.0;0.001;0.238	B;B;B	0.23716	0.0;0.003;0.048	T	0.07309	-1.0779	10	0.30854	T	0.27	.	0.3611	0.00364	0.2741:0.3285:0.163:0.2343	.	202;262;278	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	P	202;220;262;278	ENSP00000410578:R202P;ENSP00000446410:R220P;ENSP00000370734:R262P;ENSP00000370718:R278P	ENSP00000370718:R278P	R	-	2	0	ASMTL	1506691	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.560000	0.00431	-3.265000	0.00201	-2.277000	0.00273	CGG		0.637	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055595.1	NM_004192		7	134	0	0	0	8.12818e-05	0	7	134				
ASMT	438	broad.mit.edu	37	X	1748724	1748724	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:1748724G>C	ENST00000381229.4	+	5	490	c.454G>C	c.(454-456)Gag>Cag	p.E152Q	ASMT_ENST00000509780.1_Intron|ASMT_ENST00000381233.3_Missense_Mutation_p.E152Q|ASMT_ENST00000381241.3_Missense_Mutation_p.E152Q			P46597	ASMT_HUMAN	acetylserotonin O-methyltransferase	152					cellular nitrogen compound metabolic process (GO:0034641)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|negative regulation of male gonad development (GO:2000019)|small molecule metabolic process (GO:0044281)|translation (GO:0006412)	cytosol (GO:0005829)	acetylserotonin O-methyltransferase activity (GO:0017096)|identical protein binding (GO:0042802)|O-methyltransferase activity (GO:0008171)|protein homodimerization activity (GO:0042803)	p.E152Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		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)			Melatonin(DB01065)	GTCCGAGGGCGAGCGGCTACA	0.572																																							uc004cqd.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(454-456)GAG>CAG		acetylserotonin O-methyltransferase							330.0	282.0	298.0					X																	1748724		2203	4296	6499	SO:0001583	missense	438				melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity	g.chrX:1748724G>C	M83779	CCDS14117.1, CCDS55364.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000196433	ENSG00000196433	2.1.1.4	"""Pseudoautosomal regions / PAR1"""	750	protein-coding gene	gene with protein product		300015, 402500				8397829, 7989373	Standard	NM_004043		Approved	HIOMT, ASMTY, HIOMTY	uc010ncy.3	P46597	OTTHUMG00000021065	ENST00000381229.4:c.454G>C	X.37:g.1748724G>C	ENSP00000370627:p.Glu152Gln					ASMT_uc010ncy.2_Missense_Mutation_p.E152Q|ASMT_uc004cqe.2_Missense_Mutation_p.E152Q	p.E152Q	NM_004043	NP_004034	P46597	HIOM_HUMAN			6	599	+		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)	152					B2RC33|Q16598|Q5JQ72|Q5JQ73	Missense_Mutation	SNP	ENST00000381229.4	37	c.454G>C		.	.	.	.	.	.	.	.	.	.	g	15.60	2.881389	0.51801	.	.	ENSG00000196433	ENST00000381241;ENST00000381229;ENST00000381233	T;T;T	0.24350	1.86;1.86;2.17	1.45	1.45	0.22620	.	0.147965	0.48286	U	0.000197	T	0.36963	0.0986	M	0.78285	2.405	0.09310	N	1	D;D	0.55172	0.97;0.97	P;P	0.53912	0.737;0.737	T	0.26430	-1.0103	10	0.20046	T	0.44	.	9.823	0.40894	0.0:0.0:1.0:0.0	.	152;152	P46597-2;P46597-3	.;.	Q	152	ENSP00000370639:E152Q;ENSP00000370627:E152Q;ENSP00000370631:E152Q	ENSP00000370627:E152Q	E	+	1	0	ASMT	1708724	1.000000	0.71417	0.734000	0.30879	0.148000	0.21650	3.610000	0.54125	0.439000	0.26476	0.100000	0.15512	GAG		0.572	ASMT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000055612.1	NM_004043		4	270	0	0	0	1.23904e-05	0	4	270				
NLGN4X	57502	broad.mit.edu	37	X	5821843	5821843	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:5821843C>A	ENST00000381095.3	-	5	1503	c.876G>T	c.(874-876)caG>caT	p.Q292H	NLGN4X_ENST00000381092.1_Missense_Mutation_p.Q292H|NLGN4X_ENST00000538097.1_Missense_Mutation_p.Q292H|NLGN4X_ENST00000381093.2_Missense_Mutation_p.Q312H|NLGN4X_ENST00000275857.6_Missense_Mutation_p.Q292H	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	292					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.Q292H(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ACTTGGCCGGCTGGTAGTTCA	0.542																																							uc010ndh.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(874-876)CAG>CAT		X-linked neuroligin 4 precursor							100.0	77.0	84.0					X																	5821843		2203	4300	6503	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821843C>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.876G>T	X.37:g.5821843C>A	ENSP00000370485:p.Gln292His					NLGN4X_uc004crp.2_Missense_Mutation_p.Q312H|NLGN4X_uc004crq.2_Missense_Mutation_p.Q292H|NLGN4X_uc010ndi.2_Missense_Mutation_p.Q329H|NLGN4X_uc004crr.2_Missense_Mutation_p.Q292H|NLGN4X_uc010ndj.2_Missense_Mutation_p.Q292H	p.Q292H	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			5	1377	-			292			Extracellular (Potential).		Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.876G>T	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202277	0.38905	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	3.93	3.07	0.35406	Carboxylesterase, type B (1);	.	.	.	.	T	0.74114	0.3674	M	0.67625	2.065	0.51482	D	0.999921	B;D;B	0.60160	0.337;0.987;0.422	P;P;B	0.59825	0.513;0.864;0.438	T	0.72037	-0.4411	8	.	.	.	.	10.0905	0.42445	0.0:0.8979:0.0:0.1021	.	349;292;312	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	H	292;312;292;292;292	ENSP00000370485:Q292H;ENSP00000370483:Q312H;ENSP00000275857:Q292H;ENSP00000370482:Q292H;ENSP00000439203:Q292H	.	Q	-	3	2	NLGN4X	5831843	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.968000	0.40500	0.523000	0.28482	0.600000	0.82982	CAG		0.542	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		39	9	1	0	1.00001e-27	0.000437636	2.56718e-26	39	9				
DCAF8L1	139425	broad.mit.edu	37	X	27998808	27998808	+	Missense_Mutation	SNP	C	C	T	rs189119937		TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:27998808C>T	ENST00000441525.1	-	1	758	c.644G>A	c.(643-645)gGt>gAt	p.G215D		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	215								p.G215D(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TAAGTCATCACCGCTACTGGC	0.507																																							uc004dbx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(643-645)GGT>GAT		DDB1 and CUL4 associated factor 8-like 1							43.0	34.0	37.0					X																	27998808		2202	4299	6501	SO:0001583	missense	139425							g.chrX:27998808C>T		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.644G>A	X.37:g.27998808C>T	ENSP00000405222:p.Gly215Asp						p.G215D	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	759	-			215			WD 1.		B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.644G>A	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310855	0.60414	.	.	ENSG00000226372	ENST00000441525	T	0.63913	-0.07	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.046796	0.85682	D	0.000000	T	0.54775	0.1879	L	0.56280	1.765	0.26211	N	0.979297	P	0.41188	0.741	B	0.42462	0.388	T	0.52540	-0.8562	10	0.87932	D	0	-7.1837	7.2758	0.26283	0.0:0.9999:0.0:1.0E-4	.	215	A6NGE4	DC8L1_HUMAN	D	215	ENSP00000405222:G215D	ENSP00000405222:G215D	G	-	2	0	DCAF8L1	27908729	1.000000	0.71417	0.560000	0.28344	0.429000	0.31625	4.462000	0.60121	0.691000	0.31592	0.284000	0.19432	GGT		0.507	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		13	2	0	0	0	0.000151284	0	13	2				
USP9X	8239	broad.mit.edu	37	X	41025463	41025463	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:41025463G>T	ENST00000324545.8	+	16	2957	c.2324G>T	c.(2323-2325)tGg>tTg	p.W775L	USP9X_ENST00000378308.2_Missense_Mutation_p.W775L	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	775					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.W775L(1)|p.W768L(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GATTACCTTTGGAGGGTAAGT	0.348																																					Ovarian(172;1807 2695 35459 49286)	Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|breast(2)|ovary(1)	6						c.(2323-2325)TGG>TTG		ubiquitin specific protease 9, X-linked isoform							38.0	35.0	36.0					X																	41025463		2016	4189	6205	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41025463G>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2324G>T	X.37:g.41025463G>T	ENSP00000316357:p.Trp775Leu					USP9X_uc004dfc.2_Missense_Mutation_p.W775L	p.W775L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			16	2957	+			775					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.2324G>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.559476	0.86335	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.60672	0.17;0.17	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.78729	0.4329	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82762	-0.0297	10	0.87932	D	0	.	17.7657	0.88477	0.0:0.0:1.0:0.0	.	775;775	Q93008-1;Q93008	.;USP9X_HUMAN	L	775	ENSP00000367558:W775L;ENSP00000316357:W775L	ENSP00000316357:W775L	W	+	2	0	USP9X	40910407	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.694000	0.98686	2.213000	0.71641	0.600000	0.82982	TGG		0.348	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		17	4	1	0	7.05477e-17	5.01169e-05	1.70904e-15	17	4				
SSX3	10214	broad.mit.edu	37	X	48211539	48211539	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:48211539G>T	ENST00000298396.2	-	5	378	c.326C>A	c.(325-327)cCg>cAg	p.P109Q	SSX3_ENST00000376893.3_Missense_Mutation_p.P109Q|SSX3_ENST00000376895.1_Missense_Mutation_p.P21Q	NM_021014.2	NP_066294.1	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.P109Q(2)		endometrium(3)|large_intestine(1)|lung(9)	13						ACTCACCTTCGGGAAGATTCC	0.443																																					Colon(37;227 826 19399 40970 48007)	Colon(37;227 826 19399 40970 48007)	uc004djd.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(325-327)CCG>CAG		synovial sarcoma, X breakpoint 3 isoform a							141.0	126.0	131.0					X																	48211539		2203	4300	6503	SO:0001583	missense	10214				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:48211539G>T	U90840	CCDS14291.1	Xp11.23	2009-06-17			ENSG00000165584	ENSG00000165584			11337	protein-coding gene	gene with protein product		300325				8697803, 9378559	Standard	NM_021014		Approved	CT5.3	uc004djd.1	Q99909	OTTHUMG00000021489	ENST00000298396.2:c.326C>A	X.37:g.48211539G>T	ENSP00000298396:p.Pro109Gln					SSX3_uc004dje.2_Missense_Mutation_p.P109Q|SSX3_uc010nic.2_Missense_Mutation_p.P109Q	p.P109Q	NM_021014	NP_066294	Q99909	SSX3_HUMAN			5	420	-			109					O60223|Q5JQZ3|Q9BRW7	Missense_Mutation	SNP	ENST00000298396.2	37	c.326C>A	CCDS14291.1	.	.	.	.	.	.	.	.	.	.	N	0.056	-1.237607	0.01493	.	.	ENSG00000165584	ENST00000298396;ENST00000376895;ENST00000376893	T;T;T	0.32753	3.25;1.44;3.14	1.21	-2.42	0.06542	.	3.508590	0.01199	N	0.007535	T	0.41328	0.1154	L	0.46614	1.455	0.09310	N	1	D;D	0.76494	0.999;0.991	D;P	0.72625	0.978;0.905	T	0.41945	-0.9480	10	0.17369	T	0.5	.	2.6104	0.04889	0.2955:0.0:0.4279:0.2766	.	109;109	Q9BRW7;Q99909	.;SSX3_HUMAN	Q	109;21;109	ENSP00000298396:P109Q;ENSP00000366092:P21Q;ENSP00000366090:P109Q	ENSP00000298396:P109Q	P	-	2	0	SSX3	48096483	0.000000	0.05858	0.024000	0.17045	0.038000	0.13279	-3.185000	0.00567	-1.880000	0.01125	-1.177000	0.01723	CCG		0.443	SSX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056486.1	NM_021014		8	113	1	0	3.86212e-05	3.86212e-05	0.000822643	8	113				
KDM5C	8242	broad.mit.edu	37	X	53227964	53227964	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:53227964C>A	ENST00000375401.3	-	16	2882	c.2350G>T	c.(2350-2352)Gag>Tag	p.E784*	KDM5C_ENST00000404049.3_Nonsense_Mutation_p.E783*|KDM5C_ENST00000375379.3_Nonsense_Mutation_p.E784*|KDM5C_ENST00000452825.3_Nonsense_Mutation_p.E717*|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.E743*	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	784					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.E717*(1)|p.E784*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CGCCCATCCTCCACCTCCAGG	0.572			"""N, F, S"""		clear cell renal carcinoma																																		uc004drz.2		NA		Rec	yes		X	Xp11.22-p11.21	8242	N|F|S	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		2	Substitution - Nonsense(2)		lung(2)	kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						c.(2350-2352)GAG>TAG		jumonji, AT rich interactive domain 1C isoform							123.0	92.0	102.0					X																	53227964		2203	4300	6503	SO:0001587	stop_gained	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53227964C>A	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2350G>T	X.37:g.53227964C>A	ENSP00000364550:p.Glu784*					KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Nonsense_Mutation_p.E717*|KDM5C_uc004dsa.2_Nonsense_Mutation_p.E783*	p.E784*	NM_004187	NP_004178	P41229	KDM5C_HUMAN			16	2883	-			784					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Nonsense_Mutation	SNP	ENST00000375401.3	37	c.2350G>T	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	45	11.790273	0.99603	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	.	.	.	4.62	4.62	0.57501	.	0.101790	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.6769	14.0913	0.64993	0.0:1.0:0.0:0.0	.	.	.	.	X	717;784;783;784;743	.	ENSP00000364528:E784X	E	-	1	0	KDM5C	53244689	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.730000	0.62015	1.896000	0.54893	0.462000	0.41574	GAG		0.572	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		43	14	1	0	1.23713e-20	0.000147903	3.08386e-19	43	14				
ZXDB	158586	broad.mit.edu	37	X	57620752	57620752	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:57620752G>C	ENST00000374888.1	+	1	2484	c.2271G>C	c.(2269-2271)gcG>gcC	p.A757A		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	757					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A757A(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CAACCAAAGCGGAGTGGAACG	0.488																																							uc004dvd.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2269-2271)GCG>GCC		zinc finger, X-linked, duplicated B							163.0	124.0	138.0					X																	57620752		2203	4300	6503	SO:0001819	synonymous_variant	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57620752G>C	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.2271G>C	X.37:g.57620752G>C							p.A757A	NM_007157	NP_009088	P98169	ZXDB_HUMAN			1	2484	+			757					A8K151|Q9UBB3	Silent	SNP	ENST00000374888.1	37	c.2271G>C	CCDS35313.1																																																																																				0.488	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		3	34	0	0	0	6.4e-05	0	3	34				
AMER1	139285	broad.mit.edu	37	X	63411863	63411863	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:63411863C>A	ENST00000330258.3	-	2	1576	c.1304G>T	c.(1303-1305)gGc>gTc	p.G435V	AMER1_ENST00000374869.3_Missense_Mutation_p.G435V|AMER1_ENST00000403336.1_Missense_Mutation_p.G435V	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	435					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)|p.G435V(2)									GAGCATGTAGCCGTGGTGGCC	0.527																																							uc004dvo.2		NA																	69	Whole gene deletion(67)|Substitution - Missense(2)	p.0?(40)	kidney(65)|lung(2)|ovary(1)|large_intestine(1)	kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112						c.(1303-1305)GGC>GTC		family with sequence similarity 123B							188.0	149.0	162.0					X																	63411863		2203	4300	6503	SO:0001583	missense	139285				Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		g.chrX:63411863C>A	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1304G>T	X.37:g.63411863C>A	ENSP00000329117:p.Gly435Val						p.G435V	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN			2	1577	-			435					A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	c.1304G>T	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	2.007	-0.427944	0.04701	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.19250	2.16;2.16;2.16	5.32	1.37	0.22104	.	0.902523	0.09688	N	0.768781	T	0.13200	0.0320	N	0.20685	0.6	0.22581	N	0.998965	B	0.27882	0.192	B	0.31016	0.123	T	0.37686	-0.9695	10	0.31617	T	0.26	-1.2421	6.2325	0.20742	0.0:0.5629:0.2711:0.166	.	435	Q5JTC6	F123B_HUMAN	V	435	ENSP00000364003:G435V;ENSP00000329117:G435V;ENSP00000384722:G435V	ENSP00000329117:G435V	G	-	2	0	FAM123B	63328588	0.006000	0.16342	0.006000	0.13384	0.041000	0.13682	0.106000	0.15354	0.008000	0.14787	0.600000	0.82982	GGC		0.527	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424		50	16	1	0	2.23322e-12	0.000147903	5.21716e-11	50	16				
KIAA2022	340533	broad.mit.edu	37	X	73960673	73960674	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:73960673_73960674CC>AA	ENST00000055682.6	-	3	4329_4330	c.3718_3719GG>TT	c.(3718-3720)GGc>TTc	p.G1240F		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1240					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.G1240F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ACGGCCAATGCCAATTTGCATT	0.495																																							uc004eby.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(3718-3720)GGC>TTC		hypothetical protein LOC340533																																				SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960673_73960674CC>AA		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3718_3719delinsAA	X.37:g.73960673_73960674delinsAA	ENSP00000055682:p.Gly1240Phe						p.G1240F	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	4335_4336	-			1240					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	DNP	ENST00000055682.6	37	c.3718_3719GG>TT	CCDS35337.1																																																																																				0.495	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		23	8	0	0	0	6.4e-05	0	23	8				
MAGT1	84061	broad.mit.edu	37	X	77150820	77150820	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:77150820G>C	ENST00000373336.3	-	1	117	c.88C>G	c.(88-90)Caa>Gaa	p.Q30E	MAGT1_ENST00000358075.6_Missense_Mutation_p.Q62E			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	30				Q -> K (in Ref. 4; BAC11592). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.Q30E(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TTCTTTCTTTGGGCAGAGGCT	0.582																																							uc004fof.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(184-186)CAA>GAA		magnesium transporter 1							109.0	80.0	89.0					X																	77150820		2203	4296	6499	SO:0001583	missense	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77150820G>C		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.88C>G	X.37:g.77150820G>C	ENSP00000362433:p.Gln30Glu					MAGT1_uc004fog.3_RNA|MAGT1_uc004ect.3_Missense_Mutation_p.Q62E	p.Q62E	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN			1	246	-			30	Q -> K (in Ref. 4; BAC11592).				B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000373336.3	37	c.184C>G		.	.	.	.	.	.	.	.	.	.	G	12.24	1.880101	0.33162	.	.	ENSG00000102158	ENST00000358075;ENST00000373336	T;T	0.43688	0.94;0.98	4.41	3.53	0.40419	.	0.156720	0.43747	D	0.000539	T	0.27866	0.0686	L	0.36672	1.1	0.40624	D	0.981797	B;B	0.11235	0.0;0.004	B;B	0.13407	0.004;0.009	T	0.07290	-1.0780	10	0.11794	T	0.64	-6.8634	8.8083	0.34952	0.1157:0.0:0.8843:0.0	.	30;62	Q9H0U3;B4DH58	MAGT1_HUMAN;.	E	62;30	ENSP00000354649:Q62E;ENSP00000362433:Q30E	ENSP00000354649:Q62E	Q	-	1	0	MAGT1	77037476	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	2.637000	0.46553	2.165000	0.68154	0.544000	0.68410	CAA		0.582	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000057302.2	NM_032121		3	28	0	0	0	6.4e-05	0	3	28				
NXF2B	728343	broad.mit.edu	37	X	101623759	101623759	+	Silent	SNP	C	C	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:101623759C>A	ENST00000372750.1	-	12	1402	c.603G>T	c.(601-603)gcG>gcT	p.A201A	NXF2B_ENST00000372752.1_Silent_p.A113A|NXF2B_ENST00000372749.1_Silent_p.A201A|NXF2B_ENST00000457521.2_Silent_p.A201A|NXF2B_ENST00000412230.2_Silent_p.A201A			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	201	RRM.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.A201A(1)		breast(1)|kidney(1)|lung(4)|ovary(1)	7						CAGAGTAGGGCGCAGTAGAAT	0.488																																							uc004ejb.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(601-603)GCG>GCT		nuclear RNA export factor 2B							150.0	128.0	136.0					X																	101623759		2202	4281	6483	SO:0001819	synonymous_variant	728343				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|RNA binding	g.chrX:101623759C>A		CCDS43979.1	Xq22.1	2013-05-14			ENSG00000185945	ENSG00000269437			23984	protein-coding gene	gene with protein product						16382448	Standard	NM_001099686		Approved	bA353J17.1		Q9GZY0	OTTHUMG00000154920	ENST00000372750.1:c.603G>T	X.37:g.101623759C>A						NXF2B_uc004eiz.3_Silent_p.A113A|NXF2B_uc004eja.3_Silent_p.A201A|NXF2_uc004eiy.3_Silent_p.A201A	p.A201A	NM_001099686	NP_001093156	Q9GZY0	NXF2_HUMAN			19	2475	-			201			RRM.		Q9BXU4|Q9NSS1|Q9NX66	Silent	SNP	ENST00000372750.1	37	c.603G>T	CCDS43979.1																																																																																				0.488	NXF2B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058979.1			19	37	1	0	1.61863e-15	0.000147903	3.87345e-14	19	37				
STAG2	10735	broad.mit.edu	37	X	123217337	123217337	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:123217337G>C	ENST00000371160.1	+	29	3281	c.2991G>C	c.(2989-2991)ttG>ttC	p.L997F	STAG2_ENST00000354548.5_Missense_Mutation_p.L928F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Missense_Mutation_p.L997F|STAG2_ENST00000218089.9_Missense_Mutation_p.L997F|STAG2_ENST00000371157.3_Missense_Mutation_p.L997F|STAG2_ENST00000371144.3_Missense_Mutation_p.L997F	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	997					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.L997F(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTTTAAATTTGGCATTTCTTG	0.323																																							uc004etz.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(2989-2991)TTG>TTC		stromal antigen 2 isoform b							80.0	77.0	78.0					X																	123217337		2203	4299	6502	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123217337G>C	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2991G>C	X.37:g.123217337G>C	ENSP00000360202:p.Leu997Phe					STAG2_uc004eua.2_Missense_Mutation_p.L997F|STAG2_uc004eub.2_Missense_Mutation_p.L997F|STAG2_uc004euc.2_Missense_Mutation_p.L997F|STAG2_uc004eud.2_Missense_Mutation_p.L997F|STAG2_uc004eue.2_Missense_Mutation_p.L997F	p.L997F	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			28	3330	+			997					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.2991G>C	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096986	0.76870	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	D;D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02;-2.02	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000002	D	0.92315	0.7562	M	0.86502	2.82	0.58432	D	0.999999	D;P	0.53151	0.958;0.929	P;P	0.60949	0.881;0.764	D	0.93270	0.6651	10	0.51188	T	0.08	-16.0257	16.9505	0.86244	0.0:0.0:1.0:0.0	.	997;997	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	F	997;928;997;997;997;997	ENSP00000218089:L997F;ENSP00000346555:L928F;ENSP00000360202:L997F;ENSP00000360199:L997F;ENSP00000360187:L997F;ENSP00000360186:L997F	ENSP00000218089:L997F	L	+	3	2	STAG2	123045018	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.550000	0.67268	2.007000	0.58848	0.506000	0.49869	TTG		0.323	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		49	16	0	0	0	0.000147903	0	49	16				
TENM1	10178	broad.mit.edu	37	X	123554306	123554306	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:123554306G>C	ENST00000371130.3	-	24	4879	c.4816C>G	c.(4816-4818)Caa>Gaa	p.Q1606E	TENM1_ENST00000422452.2_Missense_Mutation_p.Q1613E|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1606					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.Q1608E(1)									CAGTATACTTGTCCGCCAGGC	0.522																																							uc004euj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(4816-4818)CAA>GAA		odz, odd Oz/ten-m homolog 1 isoform 3							72.0	53.0	60.0					X																	123554306		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123554306G>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4816C>G	X.37:g.123554306G>C	ENSP00000360171:p.Gln1606Glu					ODZ1_uc011muj.1_Missense_Mutation_p.Q1612E|ODZ1_uc010nqy.2_Missense_Mutation_p.Q1613E	p.Q1606E	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			24	4880	-			1606			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.4816C>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	g	17.68	3.450120	0.63290	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86297	-2.1;-2.06	5.63	5.63	0.86233	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.93648	0.7971	M	0.83953	2.67	0.54753	D	0.999983	D;P;D	0.54964	0.969;0.9;0.962	D;P;P	0.64877	0.93;0.622;0.78	D	0.93568	0.6901	10	0.49607	T	0.09	.	18.7309	0.91735	0.0:0.0:1.0:0.0	.	1612;1613;1606	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	E	1606;1613	ENSP00000360171:Q1606E;ENSP00000403954:Q1613E	ENSP00000360171:Q1606E	Q	-	1	0	ODZ1	123381987	1.000000	0.71417	0.994000	0.49952	0.549000	0.35272	6.744000	0.74854	2.368000	0.80403	0.597000	0.82753	CAA		0.522	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		21	3	0	0	0	0.000175454	0	21	3				
TENM1	10178	broad.mit.edu	37	X	123838919	123838919	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:123838919G>C	ENST00000371130.3	-	5	1022	c.959C>G	c.(958-960)gCa>gGa	p.A320G	TENM1_ENST00000422452.2_Missense_Mutation_p.A320G	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	320					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.A322G(1)									GGCGCTCAATGCTGTGCACTT	0.483																																							uc004euj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(958-960)GCA>GGA		odz, odd Oz/ten-m homolog 1 isoform 3							173.0	154.0	160.0					X																	123838919		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123838919G>C	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.959C>G	X.37:g.123838919G>C	ENSP00000360171:p.Ala320Gly					ODZ1_uc011muj.1_Missense_Mutation_p.A320G|ODZ1_uc010nqy.2_Missense_Mutation_p.A320G	p.A320G	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			5	1023	-			320			Cytoplasmic (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.959C>G	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604792	0.87157	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90324	-2.65;-2.62	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.94561	0.8248	L	0.58583	1.82	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.83275	0.987;0.987;0.996	D	0.94836	0.8000	10	0.72032	D	0.01	.	18.8089	0.92050	0.0:0.0:1.0:0.0	.	320;320;320	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	G	320	ENSP00000360171:A320G;ENSP00000403954:A320G	ENSP00000360171:A320G	A	-	2	0	ODZ1	123666600	1.000000	0.71417	0.991000	0.47740	0.982000	0.71751	9.823000	0.99369	2.388000	0.81334	0.529000	0.55759	GCA		0.483	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		99	21	0	0	0	0.000147903	0	99	21				
BCORL1	63035	broad.mit.edu	37	X	129184716	129184716	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:129184716G>C	ENST00000218147.7	+	11	4840	c.4643G>C	c.(4642-4644)cGg>cCg	p.R1548P	BCORL1_ENST00000540052.1_Missense_Mutation_p.R1548P|BCORL1_ENST00000359304.2_Missense_Mutation_p.R1418P|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1622P			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1548					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1548P(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CTTCAGGGCCGGGCAGAGGGT	0.502																																							uc004evb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|lung(1)	7						c.(4642-4644)CGG>CCG		BCL6 co-repressor-like 1							197.0	171.0	180.0					X																	129184716		2203	4300	6503	SO:0001583	missense	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129184716G>C	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4643G>C	X.37:g.129184716G>C	ENSP00000218147:p.Arg1548Pro					BCORL1_uc004evc.1_Missense_Mutation_p.R384P	p.R1548P	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			11	4757	+			1548			ANK 3.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	c.4643G>C	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384424	0.82792	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.45668	0.89;1.12;0.89;0.89;1.16	5.63	5.63	0.86233	.	0.000000	0.34133	N	0.004222	T	0.61261	0.2333	M	0.67397	2.05	0.51767	D	0.999938	D;D	0.89917	1.0;0.986	D;P	0.87578	0.998;0.781	T	0.63915	-0.6529	10	0.66056	D	0.02	-15.4698	11.8113	0.52183	0.0832:0.0:0.9168:0.0	.	1622;1548	Q5H9F3-3;Q5H9F3	.;BCORL_HUMAN	P	1548;1622;1418;1548;1222	ENSP00000218147:R1548P;ENSP00000307541:R1622P;ENSP00000352253:R1418P;ENSP00000437775:R1548P;ENSP00000399483:R1222P	ENSP00000218147:R1548P	R	+	2	0	BCORL1	129012397	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.250000	0.72435	2.359000	0.80004	0.513000	0.50165	CGG		0.502	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		4	132	0	0	0	1.23904e-05	0	4	132				
CCDC160	347475	broad.mit.edu	37	X	133378844	133378844	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:133378844G>A	ENST00000517294.1	+	3	397	c.14G>A	c.(13-15)aGa>aAa	p.R5K	CCDC160_ENST00000370809.4_Missense_Mutation_p.R5K			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	5								p.R5K(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GATGCTAGAAGAAAACACTGG	0.368																																							uc011mvj.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(13-15)AGA>AAA		coiled-coil domain containing 160							18.0	17.0	18.0					X																	133378844		1822	4072	5894	SO:0001583	missense	347475							g.chrX:133378844G>A	BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.14G>A	X.37:g.133378844G>A	ENSP00000427951:p.Arg5Lys						p.R5K	NM_001101357	NP_001094827	A6NGH7	CC160_HUMAN			2	335	+			5						Missense_Mutation	SNP	ENST00000517294.1	37	c.14G>A	CCDS48171.1	.	.	.	.	.	.	.	.	.	.	G	9.533	1.111471	0.20714	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	.	.	.	5.05	2.26	0.28386	.	0.242674	0.29799	N	0.011163	T	0.21387	0.0515	L	0.27053	0.805	0.21105	N	0.999785	B	0.32573	0.376	B	0.27887	0.084	T	0.14952	-1.0454	9	0.87932	D	0	-15.4523	7.175	0.25738	0.3798:0.0:0.6202:0.0	.	5	A6NGH7	CC160_HUMAN	K	5	.	ENSP00000359845:R5K	R	+	2	0	CCDC160	133206510	0.964000	0.33143	0.843000	0.33291	0.153000	0.21895	1.359000	0.34113	0.459000	0.27016	0.594000	0.82650	AGA		0.368	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1	NM_001101357		19	1	0	0	0	0.000132079	0	19	1				
GABRQ	55879	broad.mit.edu	37	X	151818273	151818273	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:151818273G>A	ENST00000370306.2	+	6	699	c.679G>A	c.(679-681)Gag>Aag	p.E227K		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	227					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.E227K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CATGACTGAGGAGCTGCATAT	0.483																																							uc004ffp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(679-681)GAG>AAG		gamma-aminobutyric acid (GABA) receptor, theta							201.0	152.0	169.0					X																	151818273		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151818273G>A	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.679G>A	X.37:g.151818273G>A	ENSP00000359329:p.Glu227Lys						p.E227K	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			6	699	+	Acute lymphoblastic leukemia(192;6.56e-05)		227			Extracellular (Potential).		A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.679G>A	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.765464	0.00651	.	.	ENSG00000147402	ENST00000370306	T	0.79033	-1.23	5.82	-4.5	0.03493	Neurotransmitter-gated ion-channel ligand-binding (3);	0.539313	0.17059	N	0.188640	T	0.43743	0.1261	N	0.03154	-0.405	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.48387	-0.9040	10	0.02654	T	1	.	8.9301	0.35666	0.4365:0.0:0.466:0.0975	.	227	Q9UN88	GBRT_HUMAN	K	227	ENSP00000359329:E227K	ENSP00000359329:E227K	E	+	1	0	GABRQ	151568929	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	0.163000	0.16520	-1.055000	0.03209	-0.912000	0.02778	GAG		0.483	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		64	13	0	0	0	0.000147903	0	64	13				
SPRY3	10251	broad.mit.edu	37	X	155003545	155003545	+	Silent	SNP	G	G	C			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:155003545G>C	ENST00000302805.2	+	2	443	c.12G>C	c.(10-12)gcG>gcC	p.A4A		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	4					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.A4A(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGATGCTGCGGTGACAGATG	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		20372	0.001		0.0	False		,,,				2504	0.0						uc004fnq.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(10-12)GCG>GCC		sprouty homolog 3							170.0	169.0	170.0					X																	155003545		2203	4296	6499	SO:0001819	synonymous_variant	10251				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		g.chrX:155003545G>C	AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.12G>C	X.37:g.155003545G>C						SPRY3_uc010nvl.1_Silent_p.A4A	p.A4A	NM_005840	NP_005831	O43610	SPY3_HUMAN			2	466	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		4					A8K0H8	Silent	SNP	ENST00000302805.2	37	c.12G>C	CCDS14769.4																																																																																				0.458	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058823.2	NM_005840		4	225	0	0	0	0.00024832	0	4	225				
F3	2152	broad.mit.edu	37	1	95005860	95005861	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr1:95005860_95005861delCA	ENST00000334047.7	-	2	327_328	c.164_165delTG	c.(163-165)ttgfs	p.L55fs	F3_ENST00000370207.4_Frame_Shift_Del_p.L55fs|F3_ENST00000480356.1_5'UTR	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	55					activation of blood coagulation via clotting cascade (GO:0002543)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of plasma proteins involved in acute inflammatory response (GO:0002541)|blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|protease binding (GO:0002020)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	GTTCCCACTCCAAAATTGTCTT	0.356																																					Melanoma(40;358 1339 15970 39161)	Melanoma(40;358 1339 15970 39161)	uc001dqr.2		NA																	0				central_nervous_system(1)	1						c.(163-165)TTGfs		coagulation factor III precursor	Coagulation factor VIIa(DB00036)																																			SO:0001589	frameshift_variant	2152				activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding	g.chr1:95005860_95005861delCA	BC011029	CCDS750.1, CCDS53345.1	1p22-p21	2012-10-02			ENSG00000117525	ENSG00000117525		"""CD molecules"""	3541	protein-coding gene	gene with protein product		134390					Standard	NM_001993		Approved	CD142	uc001dqr.3	P13726	OTTHUMG00000010716	ENST00000334047.7:c.164_165delTG	1.37:g.95005860_95005861delCA	ENSP00000334145:p.Leu55fs					F3_uc001dqp.2_RNA|F3_uc001dqq.2_RNA|F3_uc001dqs.2_Frame_Shift_Del_p.L55fs|F3_uc001dqt.2_RNA	p.L55fs	NM_001993	NP_001984	P13726	TF_HUMAN		all cancers(265;0.0232)|Epithelial(280;0.121)	2	343_344	-		all_lung(203;0.00106)|Lung NSC(277;0.00475)	55			Extracellular (Potential).		D3DT47|Q6FHG2|Q86WH4	Frame_Shift_Del	DEL	ENST00000334047.7	37	c.164_165delTG	CCDS750.1																																																																																				0.356	F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029593.1	NM_001993		41	272	NA	NA	NA	NA	NA	41	272	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46205235	46205235	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr12:46205235delG	ENST00000334344.6	+	4	491	c.319delG	c.(319-321)gggfs	p.G107fs	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	107					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCATCATTTTGGGGAGGATGA	0.393			"""N, S, F"""		hepatocellular carcinoma																																		uc001ros.1		NA		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(319-321)GGGfs		AT rich interactive domain 2 (ARID, RFX-like)							115.0	103.0	107.0					12																	46205235		2203	4300	6503	SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46205235delG		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.319delG	12.37:g.46205235delG	ENSP00000335044:p.Gly107fs					ARID2_uc001ror.2_Frame_Shift_Del_p.G107fs	p.G107fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	4	319	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	107					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.319delG	CCDS31783.1																																																																																				0.393	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		35	46	NA	NA	NA	NA	NA	35	46	---	---	---	---
SNAP23	8773	broad.mit.edu	37	15	42820530	42820530	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:42820530delA	ENST00000249647.3	+	6	805	c.337delA	c.(337-339)aatfs	p.N113fs	SNAP23_ENST00000397138.1_Intron|SNAP23_ENST00000349777.1_Intron|SNAP23_ENST00000564153.1_Intron	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	113					exocytosis (GO:0006887)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	azurophil granule (GO:0042582)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|synapse (GO:0045202)				large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		CTCACCTTGCAATGTAGTATC	0.463																																							uc001zpz.1		NA																	0					0						c.(337-339)AATfs		synaptosomal-associated protein 23 isoform							85.0	75.0	79.0					15																	42820530		2203	4299	6502	SO:0001589	frameshift_variant	8773				cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding	g.chr15:42820530delA	Y09567	CCDS10087.1, CCDS10088.1	15q14	2004-01-19	2002-08-29		ENSG00000092531	ENSG00000092531			11131	protein-coding gene	gene with protein product		602534	"""synaptosomal-associated protein, 23kD"""			9070898, 8663154	Standard	NM_003825		Approved	SNAP23A, SNAP23B, HsT17016	uc001zpz.2	O00161	OTTHUMG00000130625	ENST00000249647.3:c.337delA	15.37:g.42820530delA	ENSP00000249647:p.Asn113fs					SNAP23_uc001zqa.1_Intron	p.N113fs	NM_003825	NP_003816	O00161	SNP23_HUMAN		GBM - Glioblastoma multiforme(94;2.62e-06)	6	428	+		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)	113					O00162|Q13602|Q6IAE3	Frame_Shift_Del	DEL	ENST00000249647.3	37	c.337delA	CCDS10087.1																																																																																				0.463	SNAP23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253111.4	NM_003825		43	69	NA	NA	NA	NA	NA	43	69	---	---	---	---
SQRDL	58472	broad.mit.edu	37	15	45965969	45965969	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr15:45965969delC	ENST00000260324.7	+	5	1010	c.624delC	c.(622-624)atcfs	p.I208fs	RP11-96O20.4_ENST00000564080.1_Frame_Shift_Del_p.I208fs|SQRDL_ENST00000568606.1_Frame_Shift_Del_p.I208fs	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	208					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial inner membrane (GO:0005743)	sulfide:quinone oxidoreductase activity (GO:0070224)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CTCAGAAGATCATGTACTTAT	0.478																																							uc001zvt.2		NA																	0				ovary(1)	1						c.(622-624)ATCfs		sulfide dehydrogenase like precursor							104.0	88.0	93.0					15																	45965969		2198	4297	6495	SO:0001589	frameshift_variant	58472						oxidoreductase activity	g.chr15:45965969delC	AF042284	CCDS10127.1	15q21.1	2010-08-05			ENSG00000137767	ENSG00000137767			20390	protein-coding gene	gene with protein product						10810093, 10224084	Standard	NM_021199		Approved	CGI-44	uc001zvu.4	Q9Y6N5	OTTHUMG00000131476	ENST00000260324.7:c.624delC	15.37:g.45965969delC	ENSP00000260324:p.Ile208fs					SQRDL_uc001zvu.2_Frame_Shift_Del_p.I208fs|SQRDL_uc001zvv.2_Frame_Shift_Del_p.I208fs	p.I208fs	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)	6	813	+		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)	208					Q9UQM8	Frame_Shift_Del	DEL	ENST00000260324.7	37	c.624delC	CCDS10127.1																																																																																				0.478	SQRDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254319.2			30	51	NA	NA	NA	NA	NA	30	51	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578514	7578514	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr17:7578514delT	ENST00000269305.4	-	5	605	c.416delA	c.(415-417)aagfs	p.K139fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.K139fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K139fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.K139fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K139fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.K139fs	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	139	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:14660794}.|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.A138_P142delAKTCP(4)|p.C135fs*9(3)|p.K139_T140delKT(3)|p.K139fs*9(2)|p.K139R(2)|p.K139fs*31(2)|p.N131fs*27(2)|p.K139T(1)|p.L137_W146del10(1)|p.K46_T47delKT(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.K7_T8delKT(1)|p.C3fs*9(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.K139fs*10(1)|p.K139fs*4(1)|p.C42fs*9(1)|p.Q136_K139delQLAK(1)|p.C135_T140delCQLAKT(1)|p.K139fs*29(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)	AGGGCAGGTCTTGGCCAGTTG	0.562		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		41	Deletion - In frame(15)|Deletion - Frameshift(12)|Whole gene deletion(8)|Substitution - Missense(3)|Insertion - Frameshift(1)|Complex - frameshift(1)|Complex - deletion inframe(1)	p.K139N(8)|p.K139K(7)|p.0?(7)|p.K139fs*31(4)|p.K139fs*9(3)|p.K139Q(2)|p.K139R(2)|p.K139E(2)|p.N131fs*27(2)|p.K139*(2)|p.K139T(1)|p.L137_W146del10(1)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A138_V143delAKTCPV(1)|p.K139fs*11(1)|p.K139fs*10(1)|p.A138_P142delAKTCP(1)|p.Q136_K139delQLAK(1)|p.K139_C141>N(1)|p.C135_T140delCQLAKT(1)|p.K139fs*29(1)	ovary(8)|urinary_tract(5)|breast(5)|NS(5)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|oesophagus(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(1)|kidney(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(415-417)AAGfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							55.0	54.0	54.0					17																	7578514		2203	4300	6503	SO:0001589	frameshift_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.chr17:7578514delT	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.416delA	17.37:g.7578514delT	ENSP00000269305:p.Lys139fs	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_Frame_Shift_Del_p.K139fs|TP53_uc002gih.2_Frame_Shift_Del_p.K139fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.K7fs|TP53_uc010cng.1_Frame_Shift_Del_p.K7fs|TP53_uc002gii.1_Frame_Shift_Del_p.K7fs|TP53_uc010cnh.1_Frame_Shift_Del_p.K139fs|TP53_uc010cni.1_Frame_Shift_Del_p.K139fs|TP53_uc002gij.2_Frame_Shift_Del_p.K139fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.K46fs|TP53_uc002gio.2_Frame_Shift_Del_p.K7fs|TP53_uc010vug.1_Frame_Shift_Del_p.K100fs	p.K139fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	610	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	139		K -> N (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> E (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.416delA	CCDS11118.1																																																																																				0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		30	12	NA	NA	NA	NA	NA	30	12	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	140992354	140992354	+	Splice_Site	DEL	C	C	-			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr2:140992354delC	ENST00000389484.3	-	90	14631		c.e90+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		tcttctctcaccccagcagtt	0.438										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.e90+1		low density lipoprotein-related protein 1B							98.0	92.0	94.0					2																	140992354		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140992354delC	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.13659+1G>-	2.37:g.140992354delC		TSP Lung(27;0.18)					p.G4553_splice	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)	90	14631	-		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)						Q8WY29|Q8WY30|Q8WY31	Splice_Site	DEL	ENST00000389484.3	37	c.13659_splice	CCDS2182.1																																																																																				0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Intron	29	57	NA	NA	NA	NA	NA	29	57	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149474054	149474054	+	RNA	DEL	C	C	-			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr7:149474054delC	ENST00000378016.2	+	0	264							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAAGTGGAACCGGACAGTGA	0.642																																							uc010lpk.2		NA																	0					0						c.(262-264)AACfs		SCO-spondin precursor							48.0	53.0	52.0					7																	149474054		1940	4130	6070			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149474054delC	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.149474054delC						SSPO_uc010lpl.1_Intron	p.N88fs	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		3	264	+	Melanoma(164;0.165)|Ovarian(565;0.177)		88			EMI.		Q76B61	Frame_Shift_Del	DEL	ENST00000378016.2	37	c.264delC																																																																																					0.642	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				20	66	NA	NA	NA	NA	NA	20	66	---	---	---	---
SPATA31A6	389730	broad.mit.edu	37	9	43625677	43625677	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chr9:43625677delC	ENST00000332857.6	-	4	3038	c.3010delG	c.(3010-3012)gagfs	p.E1004fs	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1004					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTAACAACCTCCTCCATAAGA	0.512																																							uc011lrb.1		NA																	0					0						c.(3010-3012)GAGfs		hypothetical protein LOC389730							1.0	1.0	1.0					9																	43625677		23	97	120	SO:0001589	frameshift_variant	389730					integral to membrane		g.chr9:43625677delC		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.3010delG	9.37:g.43625677delC	ENSP00000329825:p.Glu1004fs						p.E1004fs	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	3039	-			1004						Frame_Shift_Del	DEL	ENST00000332857.6	37	c.3010delG	CCDS47973.1																																																																																				0.512	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		4	6	NA	NA	NA	NA	NA	4	6	---	---	---	---
ARHGAP6	395	broad.mit.edu	37	X	11157265	11157265	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4396-01A-21D-1855-08	TCGA-05-4396-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	0176cf1d-0760-4769-a493-277f4bb7585e	1f8820d1-4a97-41b7-a4d8-be832c9e0575	g.chrX:11157265delC	ENST00000337414.4	-	13	3515	c.2643delG	c.(2641-2643)ccgfs	p.P883fs	ARHGAP6_ENST00000380736.1_Frame_Shift_Del_p.P680fs|ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000303025.6_Frame_Shift_Del_p.P680fs	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	883					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|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)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGTATGGAGGCGGGGGCCGCT	0.706																																							uc004cup.1		NA																	0				urinary_tract(1)|lung(1)	2						c.(2641-2643)CCGfs		Rho GTPase activating protein 6 isoform 1							8.0	9.0	8.0					X																	11157265		2114	4141	6255	SO:0001589	frameshift_variant	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11157265delC	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2643delG	X.37:g.11157265delC	ENSP00000338967:p.Pro883fs					ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cum.1_Frame_Shift_Del_p.P678fs|ARHGAP6_uc004cun.1_Frame_Shift_Del_p.P701fs	p.P881fs	NM_013427	NP_038286	O43182	RHG06_HUMAN			13	3516	-			881					B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Frame_Shift_Del	DEL	ENST00000337414.4	37	c.2643delG	CCDS14140.1																																																																																				0.706	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
