#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
CFAP74	85452	broad.mit.edu	37	1	1895210	1895210	+	IGR	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:1895210G>T								TMEM52 (44498 upstream) : C1orf222 (24352 downstream)																							AAGTCCCGGAGGTGCTCCTCC	0.532																																							uc001aim.1		NA																	0				pancreas(1)	1						c.(1672-1674)CTC>ATC		hypothetical protein LOC85452							88.0	95.0	92.0					1																	1895210		2022	4175	6197	SO:0001628	intergenic_variant	85452							g.chr1:1895210G>T																													1.37:g.1895210G>T						KIAA1751_uc009vkz.1_Missense_Mutation_p.L558I	p.L558I	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	14	1828	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	558						Missense_Mutation	SNP		37	c.1672C>A		.	.	.	.	.	.	.	.	.	.	g	11.69	1.713523	0.30413	.	.	ENSG00000142609	ENST00000270720	.	.	.	4.01	4.01	0.46588	.	0.000000	0.53938	D	0.000055	T	0.63745	0.2537	L	0.58428	1.81	0.32625	N	0.522762	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.69386	-0.5159	9	0.46703	T	0.11	-22.9283	7.7824	0.29072	0.1135:0.0:0.8865:0.0	.	558;558	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	I	558	.	ENSP00000270720:L558I	L	-	1	0	C1orf222	1885070	0.998000	0.40836	0.031000	0.17742	0.843000	0.47879	3.699000	0.54778	2.240000	0.73641	0.556000	0.70494	CTC	0	0.532									4	30	1	0	1.23904e-05	0.000602	1.67149e-05	4	30				
CFAP74	85452	broad.mit.edu	37	1	1903427	1903427	+	IGR	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:1903427C>T								TMEM52 (52715 upstream) : C1orf222 (16135 downstream)																							ACCCGGTTCGCGGAGATGCTG	0.682																																							uc001aim.1		NA																	0				pancreas(1)	1						c.(880-882)GCG>ACG		hypothetical protein LOC85452							61.0	69.0	66.0					1																	1903427		2077	4201	6278	SO:0001628	intergenic_variant	85452							g.chr1:1903427C>T																													1.37:g.1903427C>T						KIAA1751_uc009vkz.1_Missense_Mutation_p.A294T	p.A294T	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	9	1036	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	294						Missense_Mutation	SNP		37	c.880G>A		.	.	.	.	.	.	.	.	.	.	c	11.17	1.559464	0.27827	.	.	ENSG00000142609	ENST00000270720	.	.	.	2.78	2.78	0.32641	.	0.381500	0.22556	N	0.058533	T	0.63965	0.2556	L	0.58669	1.825	0.47476	D	0.999438	D;D	0.89917	1.0;1.0	D;D	0.66084	0.941;0.941	T	0.61662	-0.7017	9	0.35671	T	0.21	-21.3124	5.7273	0.18020	0.0:0.8528:0.0:0.1472	.	294;294	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	T	294	.	ENSP00000270720:A294T	A	-	1	0	C1orf222	1893287	0.001000	0.12720	0.411000	0.26484	0.029000	0.11900	-0.076000	0.11412	1.852000	0.53769	0.457000	0.33378	GCG	0	0.682									7	33	0	0	0	0.001984	0	7	33				
CA6	765	broad.mit.edu	37	1	9034716	9034716	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:9034716C>T	ENST00000377443.2	+	8	884	c.880C>T	c.(880-882)Cat>Tat	p.H294Y	CA6_ENST00000377442.2_Missense_Mutation_p.H234Y|CA6_ENST00000476083.1_3'UTR	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	294					bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	Mafenide(DB06795)|Zonisamide(DB00909)	GTTTTACCTACATAAGATTGA	0.378																																							uc001apm.2		NA																	0				ovary(2)	2						c.(880-882)CAT>TAT		carbonic anhydrase VI precursor							78.0	76.0	77.0					1																	9034716		2202	4300	6502	SO:0001583	missense	765				one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	g.chr1:9034716C>T	M57892	CCDS30578.1, CCDS57970.1, CCDS57971.1	1p36.2	2008-02-05			ENSG00000131686	ENSG00000131686	4.2.1.1	"""Carbonic anhydrases"""	1380	protein-coding gene	gene with protein product		114780				9691177	Standard	NM_001215		Approved		uc031plc.1	P23280	OTTHUMG00000001763	ENST00000377443.2:c.880C>T	1.37:g.9034716C>T	ENSP00000366662:p.His294Tyr					CA6_uc009vmn.2_Missense_Mutation_p.H234Y	p.H294Y	NM_001215	NP_001206	P23280	CAH6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)	8	904	+	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	294					E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Missense_Mutation	SNP	ENST00000377443.2	37	c.880C>T	CCDS30578.1	.	.	.	.	.	.	.	.	.	.	C	6.362	0.434809	0.12045	.	.	ENSG00000131686	ENST00000377443;ENST00000377442	T;T	0.75367	-0.44;-0.93	3.07	0.636	0.17729	.	.	.	.	.	T	0.49508	0.1561	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.08055	0.003;0.003	T	0.38735	-0.9647	9	0.59425	D	0.04	.	3.5401	0.07808	0.5309:0.2535:0.0:0.2156	.	234;294	E7EMQ1;P23280	.;CAH6_HUMAN	Y	294;234	ENSP00000366662:H294Y;ENSP00000366661:H234Y	ENSP00000366661:H234Y	H	+	1	0	CA6	8957303	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.011000	0.12721	0.097000	0.17492	-0.457000	0.05445	CAT		0.378	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			4	20	0	0	0	0.009096	0	4	20				
C1orf127	148345	broad.mit.edu	37	1	11008728	11008728	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:11008728C>A	ENST00000377008.4	-	11	1409	c.963G>T	c.(961-963)gaG>gaT	p.E321D	C1orf127_ENST00000377004.4_Missense_Mutation_p.E488D			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	321	Pro-rich.									NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCTGGACACCCTCTACAGGCT	0.677																																							uc010oao.1		NA																	0				ovary(1)	1						c.(1015-1017)GAG>GAT		hypothetical protein LOC148345							38.0	41.0	40.0					1																	11008728		2202	4299	6501	SO:0001583	missense	148345							g.chr1:11008728C>A	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.963G>T	1.37:g.11008728C>A	ENSP00000366207:p.Glu321Asp					C1orf127_uc001arr.1_Missense_Mutation_p.E321D|C1orf127_uc001ars.1_Missense_Mutation_p.E313D	p.E339D	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	8	1022	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	339					A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37	c.1017G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	8.333|8.333	0.827052|0.827052	0.16749|0.16749	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000377004;ENST00000377008|ENST00000418570;ENST00000520253	T;T|.	0.25749|.	1.78;1.78|.	4.25|4.25	-2.18|-2.18	0.07037|0.07037	.|.	1.474440|.	0.04388|.	N|.	0.361945|.	T|T	0.19485|0.19485	0.0468|0.0468	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	P;P;P|.	0.36874|.	0.572;0.572;0.572|.	B;B;B|.	0.36418|.	0.224;0.224;0.224|.	T|T	0.29518|0.29518	-1.0009|-1.0009	10|5	0.22109|.	T|.	0.4|.	1.1238|1.1238	4.6089|4.6089	0.12391|0.12391	0.1816:0.4718:0.0:0.3466|0.1816:0.4718:0.0:0.3466	.|.	339;313;321|.	B7ZLG7;Q8N9H9-2;Q8N9H9|.	.;.;CA127_HUMAN|.	D|M	488;321|323;440	ENSP00000366203:E488D;ENSP00000366207:E321D|.	ENSP00000366203:E488D|.	E|R	-|-	3|2	2|0	C1orf127|C1orf127	10931315|10931315	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-0.516000|-0.516000	0.06282|0.06282	-0.303000|-0.303000	0.08856|0.08856	-1.147000|-1.147000	0.01851|0.01851	GAG|AGG		0.677	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		7	41	1	0	8.12818e-05	0.001984	0.000102047	7	41				
PRAMEF22	653606	broad.mit.edu	37	1	13036621	13036621	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:13036621C>A	ENST00000376187.1	+	2	693	c.693C>A	c.(691-693)agC>agA	p.S231R	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	231					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						GTTACCTGAGCCAGATGAGGA	0.453																																							uc009vnq.1		NA																	0					0						c.(691-693)AGC>AGA		PRAME family member 22							228.0	261.0	250.0					1																	13036621		2201	4298	6499	SO:0001583	missense	653606							g.chr1:13036621C>A			1p36.21	2013-01-17			ENSG00000204508			"""-"""	34393	protein-coding gene	gene with protein product							Standard	NM_001100631		Approved	PRAMEF3L	uc009vnq.1	A3QJZ6	OTTHUMG00000074726	ENST00000376187.1:c.693C>A	1.37:g.13036621C>A	ENSP00000365358:p.Ser231Arg					PRAMEF5_uc001aur.2_Intron	p.S231R	NM_001100631	NP_001094101	A3QJZ6	PRA22_HUMAN			2	693	+			231					A6NMM3	Missense_Mutation	SNP	ENST00000376187.1	37	c.693C>A	CCDS41256.1	.	.	.	.	.	.	.	.	.	.	.	7.808	0.715189	0.15306	.	.	ENSG00000204508	ENST00000376187	T	0.15139	2.45	1.18	1.18	0.20946	.	0.537909	0.18690	N	0.133888	T	0.17323	0.0416	L	0.33710	1.025	0.09310	N	1	P	0.49783	0.928	P	0.52481	0.7	T	0.04796	-1.0926	10	0.51188	T	0.08	.	5.7626	0.18209	0.0:1.0:0.0:0.0	.	231	A3QJZ6	PRA22_HUMAN	R	231	ENSP00000365358:S231R	ENSP00000365358:S231R	S	+	3	2	PRAMEF22	12959208	0.075000	0.21258	0.144000	0.22314	0.089000	0.18198	0.169000	0.16641	0.959000	0.37980	0.194000	0.17425	AGC		0.453	PRAMEF22-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158511.1	NM_001100631		23	175	1	0	7.88262e-20	0.00333	1.53199e-19	23	175				
EPHB2	2048	broad.mit.edu	37	1	23111389	23111389	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:23111389C>T	ENST00000400191.3	+	3	649	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L	EPHB2_ENST00000374630.3_Silent_p.L211L|EPHB2_ENST00000374627.1_Silent_p.L205L|EPHB2_ENST00000544305.1_Silent_p.L211L|EPHB2_ENST00000374632.3_Silent_p.L211L	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	211	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCAGGAAACCCTGTCGGGGGC	0.612																																							uc009vqj.1		NA																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(631-633)CTG>TTG		ephrin receptor EphB2 isoform 1 precursor							43.0	42.0	42.0					1																	23111389		2203	4300	6503	SO:0001819	synonymous_variant	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23111389C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.631C>T	1.37:g.23111389C>T						EPHB2_uc001bge.2_Silent_p.L211L|EPHB2_uc001bgf.2_Silent_p.L211L|EPHB2_uc010odu.1_Silent_p.L211L	p.L211L	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	3	776	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	211			Extracellular (Potential).|Cys-rich.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.631C>T																																																																																					0.612	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		6	29	0	0	0	0.001168	0	6	29				
EPHA10	284656	broad.mit.edu	37	1	38230655	38230655	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:38230655C>T	ENST00000373048.4	-	1	83	c.84G>A	c.(82-84)tgG>tgA	p.W28*	EPHA10_ENST00000427468.2_Nonsense_Mutation_p.W28*|EPHA10_ENST00000319637.6_Nonsense_Mutation_p.W28*	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	28					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCCAGGCCGCCAGGGTCCCA	0.657																																							uc009vvi.2		NA																	0				breast(4)|stomach(3)|lung(1)	8						c.(82-84)TGG>TGA		EPH receptor A10 isofom 3							11.0	13.0	13.0					1																	38230655		2190	4276	6466	SO:0001587	stop_gained	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38230655C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.84G>A	1.37:g.38230655C>T	ENSP00000362139:p.Trp28*					EPHA10_uc001cbw.3_Nonsense_Mutation_p.W28*	p.W28*	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			1	170	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	28					A4FU89|J3KPB5|Q6NW42	Nonsense_Mutation	SNP	ENST00000373048.4	37	c.84G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	36	5.734952	0.96865	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	.	.	.	5.2	4.25	0.50352	.	0.205108	0.24518	N	0.037824	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	10.8083	0.46531	0.0:0.7932:0.2068:0.0	.	.	.	.	X	28	.	ENSP00000316395:W28X	W	-	3	0	EPHA10	38003242	0.996000	0.38824	1.000000	0.80357	0.980000	0.70556	0.558000	0.23469	2.688000	0.91661	0.643000	0.83706	TGG		0.657	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		5	13	0	0	0	0.000602	0	5	13				
INPP5B	3633	broad.mit.edu	37	1	38352595	38352595	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:38352595C>A	ENST00000373026.1	-	11	1336	c.1336G>T	c.(1336-1338)Gcc>Tcc	p.A446S	SNORA63_ENST00000516639.1_RNA|INPP5B_ENST00000373024.3_Missense_Mutation_p.A366S|INPP5B_ENST00000373027.1_Missense_Mutation_p.A202S|INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000458109.2_Missense_Mutation_p.A129S|INPP5B_ENST00000373023.2_Missense_Mutation_p.A446S|RNU6-584P_ENST00000410350.1_RNA			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	446	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACAGTCTCGGCTTCCACTTCT	0.483																																							uc001ccg.1		NA																	0				urinary_tract(1)	1						c.(1096-1098)GCC>TCC		inositol polyphosphate-5-phosphatase, 75kDa							125.0	130.0	129.0					1																	38352595		1990	4158	6148	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38352595C>A	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1336G>T	1.37:g.38352595C>A	ENSP00000362117:p.Ala446Ser					INPP5B_uc009vvk.1_Missense_Mutation_p.A307S|INPP5B_uc001ccf.1_Missense_Mutation_p.A202S|INPP5B_uc010oij.1_RNA	p.A366S	NM_005540	NP_005531	P32019	I5P2_HUMAN			12	1190	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	446					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.1096G>T		.	.	.	.	.	.	.	.	.	.	C	19.02	3.745200	0.69418	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000458109	T;T;T;T;D	0.94828	-1.32;-1.32;-1.32;-1.32;-3.53	5.47	3.58	0.41010	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.101764	0.64402	D	0.000003	D	0.92430	0.7597	N	0.14661	0.345	0.43819	D	0.996385	P;B	0.47302	0.893;0.338	P;P	0.61477	0.889;0.458	D	0.90015	0.4124	10	0.26408	T	0.33	.	11.3921	0.49820	0.0:0.7975:0.0:0.2025	.	446;366	P32019;P32019-2	I5P2_HUMAN;.	S	202;446;446;446;366;129	ENSP00000362118:A202S;ENSP00000362114:A446S;ENSP00000362117:A446S;ENSP00000362115:A366S;ENSP00000397748:A129S	ENSP00000362114:A446S	A	-	1	0	INPP5B	38125182	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.262000	0.51538	1.300000	0.44818	0.655000	0.94253	GCC		0.483	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		7	40	1	0	8.12818e-05	0.001984	0.000102047	7	40				
PPIE	10450	broad.mit.edu	37	1	40207081	40207081	+	Splice_Site	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:40207081G>T	ENST00000324379.5	+	3	193	c.174G>T	c.(172-174)gaG>gaT	p.E58D	PPIE_ENST00000480169.1_3'UTR|PPIE_ENST00000356511.2_Splice_Site_p.E58D|PPIE_ENST00000470213.1_Splice_Site_p.E58D|PPIE_ENST00000372830.1_Splice_Site_p.E58D	NM_006112.3	NP_006103.1	Q9UNP9	PPIE_HUMAN	peptidylprolyl isomerase E (cyclophilin E)	58	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	9	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-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;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGTTGGCAGAGGTGAGAGTCT	0.388																																							uc001cds.1		NA																	0					0						c.(172-174)GAG>GAT		peptidylprolyl isomerase E isoform 1							282.0	245.0	257.0					1																	40207081		2203	4300	6503	SO:0001630	splice_region_variant	10450				protein folding|regulation of transcription, DNA-dependent	catalytic step 2 spliceosome	cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding	g.chr1:40207081G>T	AF042385	CCDS442.1, CCDS443.1, CCDS53299.1	1p32	2013-02-12			ENSG00000084072	ENSG00000084072		"""RNA binding motif (RRM) containing"""	9258	protein-coding gene	gene with protein product	"""peptidyl-prolyl cis-trans isomerase E"", ""cyclophilin 33"", ""cyclophilin E"", ""PPIase E"", ""rotamase E"", ""peptidylprolyl isomerase E, isoform 1"""	602435				9747881	Standard	NM_203456		Approved	CyP-33, MGC3736, MGC111222	uc001cdw.3	Q9UNP9	OTTHUMG00000009248	ENST00000324379.5:c.174+1G>T	1.37:g.40207081G>T						PPIE_uc001cdt.1_Translation_Start_Site|PPIE_uc010oiy.1_Translation_Start_Site|PPIE_uc001cdu.1_RNA|PPIE_uc001cdv.2_Missense_Mutation_p.E58D|PPIE_uc001cdw.2_Missense_Mutation_p.E58D|PPIE_uc001cdx.1_5'Flank	p.E58D	NM_006112	NP_006103	Q9UNP9	PPIE_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		3	217	+	all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	58			RRM.		B2R971|O43634|O43635|Q32Q72|Q3S611|Q5TGA0|Q5TGA2|Q5TGA3|Q9UIZ5	Missense_Mutation	SNP	ENST00000324379.5	37	c.174G>T	CCDS443.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.672404	0.67928	.	.	ENSG00000084072	ENST00000324379;ENST00000356511;ENST00000470213;ENST00000372830	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.0	4.09	0.47781	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.82388	0.5026	L	0.41027	1.25	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.991	D;D;P	0.77557	0.976;0.99;0.903	D	0.84082	0.0385	10	0.87932	D	0	-27.003	12.9868	0.58596	0.0784:0.0:0.9216:0.0	.	58;58;58	Q5TGA3;Q9UNP9-2;Q9UNP9	.;.;PPIE_HUMAN	D	58	ENSP00000312769:E58D;ENSP00000348904:E58D;ENSP00000431714:E58D;ENSP00000361918:E58D	ENSP00000312769:E58D	E	+	3	2	PPIE	39979668	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.595000	0.90840	1.352000	0.45808	0.561000	0.74099	GAG		0.388	PPIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025642.2	NM_006112	Missense_Mutation	12	57	1	0	4.36969e-10	0.001855	7.20947e-10	12	57				
DIO1	1733	broad.mit.edu	37	1	54360012	54360012	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:54360012C>A	ENST00000361921.3	+	1	153	c.129C>A	c.(127-129)gcC>gcA	p.A43A	DIO1_ENST00000322679.6_Silent_p.A43A|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000524406.1_Intron|DIO1_ENST00000388876.3_Silent_p.A43A|DIO1_ENST00000532493.1_Silent_p.A43A|DIO1_ENST00000525202.1_Silent_p.A43A	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	43					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						ACATCCTGGCCATGGGCGAGA	0.522																																							uc010onx.1		NA																	0					0						c.(127-129)GCC>GCA		deiodinase, iodothyronine, type I isoform a							178.0	146.0	157.0					1																	54360012		2203	4300	6503	SO:0001819	synonymous_variant	1733				hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity	g.chr1:54360012C>A		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	ENST00000361921.3:c.129C>A	1.37:g.54360012C>A						DIO1_uc010onw.1_Silent_p.A43A|DIO1_uc009vzl.2_Silent_p.A43A|DIO1_uc001cwb.2_Silent_p.A43A|DIO1_uc010ony.1_Silent_p.A43A|DIO1_uc001cwd.2_RNA|DIO1_uc001cwe.2_RNA|DIO1_uc001cwf.2_RNA|DIO1_uc001cwg.2_RNA	p.A43A	NM_000792	NP_000783	P49895	IOD1_HUMAN			1	152	+			43					Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Silent	SNP	ENST00000361921.3	37	c.129C>A	CCDS41339.1																																																																																				0.522	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3			25	88	1	0	6.32553e-13	0.004656	1.14225e-12	25	88				
USP1	7398	broad.mit.edu	37	1	62916107	62916107	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:62916107A>T	ENST00000339950.4	+	9	2628	c.1813A>T	c.(1813-1815)Agt>Tgt	p.S605C	USP1_ENST00000371146.1_Missense_Mutation_p.S605C	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	605	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		TGACCTTAACAGTTTAGAACT	0.398																																					Ovarian(122;1846 2315 3982 19504)	Ovarian(122;1846 2315 3982 19504)	uc001daj.1		NA																	0				ovary(1)	1						c.(1813-1815)AGT>TGT		ubiquitin specific protease 1							104.0	93.0	96.0					1																	62916107		2203	4300	6503	SO:0001583	missense	7398				DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:62916107A>T		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.1813A>T	1.37:g.62916107A>T	ENSP00000343526:p.Ser605Cys					USP1_uc001dak.1_Missense_Mutation_p.S605C|USP1_uc001dal.1_Missense_Mutation_p.S605C	p.S605C	NM_001017415	NP_001017415	O94782	UBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)	9	2141	+		all_neural(321;0.0281)	605					A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	c.1813A>T	CCDS621.1	.	.	.	.	.	.	.	.	.	.	A	11.41	1.629946	0.28978	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.19669	2.13;2.13	5.65	3.27	0.37495	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.166865	0.64402	D	0.000014	T	0.17280	0.0415	L	0.52573	1.65	0.34264	D	0.680285	B	0.11235	0.004	B	0.17433	0.018	T	0.12400	-1.0549	10	0.62326	D	0.03	-10.3876	3.7578	0.08592	0.6602:0.1391:0.0684:0.1323	.	605	O94782	UBP1_HUMAN	C	605	ENSP00000360188:S605C;ENSP00000343526:S605C	ENSP00000343526:S605C	S	+	1	0	USP1	62688695	0.991000	0.36638	0.993000	0.49108	0.909000	0.53808	2.785000	0.47782	0.518000	0.28383	0.533000	0.62120	AGT		0.398	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415		9	37	0	0	0	0.004482	0	9	37				
ERICH3	127254	broad.mit.edu	37	1	75065539	75065539	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:75065539T>G	ENST00000326665.5	-	11	1784	c.1566A>C	c.(1564-1566)caA>caC	p.Q522H	C1orf173_ENST00000420661.2_Missense_Mutation_p.Q325H|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		522	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCCATTCATTTGAACATCAG	0.388																																							uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1564-1566)CAA>CAC		hypothetical protein LOC127254							223.0	226.0	225.0					1																	75065539		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75065539T>G																												ENST00000326665.5:c.1566A>C	1.37:g.75065539T>G	ENSP00000322609:p.Gln522His					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.Q316H	p.Q522H	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			11	1785	-			522			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1566A>C	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	T	9.994	1.231489	0.22626	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.22945	2.35;1.93	6.05	3.76	0.43208	.	.	.	.	.	T	0.27832	0.0685	L	0.55990	1.75	0.28104	N	0.931293	D;D	0.89917	0.997;1.0	D;D	0.74348	0.912;0.983	T	0.09818	-1.0657	9	0.66056	D	0.02	-5.6058	9.0047	0.36104	0.0:0.2173:0.0:0.7827	.	325;522	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	H	522;325	ENSP00000322609:Q522H;ENSP00000398581:Q325H	ENSP00000322609:Q522H	Q	-	3	2	C1orf173	74838127	1.000000	0.71417	0.959000	0.39883	0.001000	0.01503	0.773000	0.26661	0.551000	0.29008	-0.256000	0.11100	CAA		0.388	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			20	118	0	0	0	0.008871	0	20	118				
USP33	23032	broad.mit.edu	37	1	78180383	78180383	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:78180383T>C	ENST00000370793.1	-	20	2570	c.2224A>G	c.(2224-2226)Att>Gtt	p.I742V	USP33_ENST00000370792.3_Missense_Mutation_p.I734V|USP33_ENST00000357428.1_Missense_Mutation_p.I742V|USP33_ENST00000370794.3_Missense_Mutation_p.I711V	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	742	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TGTCGAGAAATATAAAACTGA	0.373																																					Melanoma(152;72 1870 11110 26780 42647)	Melanoma(152;72 1870 11110 26780 42647)	uc001dht.2		NA																	0				lung(2)|ovary(1)	3						c.(2224-2226)ATT>GTT		ubiquitin specific protease 33 isoform 1							136.0	128.0	131.0					1																	78180383		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78180383T>C	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2224A>G	1.37:g.78180383T>C	ENSP00000359829:p.Ile742Val					USP33_uc001dhs.2_Missense_Mutation_p.I463V|USP33_uc001dhu.2_Missense_Mutation_p.I711V|USP33_uc001dhv.2_Missense_Mutation_p.I547V|USP33_uc001dhw.2_Missense_Mutation_p.I734V	p.I742V	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN			20	2571	-			742			DUSP 1.		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.2224A>G	CCDS678.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.230|7.230	0.599151|0.599151	0.13939|0.13939	.|.	.|.	ENSG00000077254|ENSG00000077254	ENST00000481579|ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	.|T;T;T;T	.|0.12672	.|2.69;2.66;2.66;2.7	5.21|5.21	4.09|4.09	0.47781|0.47781	.|Peptidase C19, ubiquitin-specific peptidase, DUSP domain (2);	0.282235|0.282235	0.38663|0.38663	N|N	0.001617|0.001617	T|T	0.02342|0.02342	0.0072|0.0072	N|N	0.17838|0.17838	0.53|0.53	0.47308|0.47308	D|D	0.99938|0.99938	.|B;B;B;B	.|0.13594	.|0.008;0.002;0.002;0.0	.|B;B;B;B	.|0.15484	.|0.013;0.008;0.006;0.013	T|T	0.32241|0.32241	-0.9914|-0.9914	6|10	.|0.08179	.|T	.|0.78	.|.	9.0081|9.0081	0.36124|0.36124	0.0:0.1635:0.0:0.8365|0.0:0.1635:0.0:0.8365	.|.	.|734;711;742;76	.|Q8TEY7-3;Q8TEY7-2;Q8TEY7;Q9Y417	.|.;.;UBP33_HUMAN;.	M|V	346|711;742;742;734	.|ENSP00000359830:I711V;ENSP00000359829:I742V;ENSP00000350009:I742V;ENSP00000359828:I734V	.|ENSP00000350009:I742V	I|I	-|-	3|1	3|0	USP33|USP33	77952971|77952971	0.995000|0.995000	0.38212|0.38212	0.996000|0.996000	0.52242|0.52242	0.991000|0.991000	0.79684|0.79684	0.646000|0.646000	0.24797|0.24797	0.926000|0.926000	0.37118|0.37118	-0.256000|-0.256000	0.11100|0.11100	ATA|ATT		0.373	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		21	47	0	0	0	0.012319	0	21	47				
CLCA2	9635	broad.mit.edu	37	1	86919061	86919061	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:86919061A>T	ENST00000370565.4	+	13	2327	c.2165A>T	c.(2164-2166)cAg>cTg	p.Q722L	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	722					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GGTAATATTCAGATGAATGCT	0.413																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	uc001dlr.3		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(2164-2166)CAG>CTG		chloride channel accessory 2 precursor							46.0	51.0	49.0					1																	86919061		2203	4300	6503	SO:0001583	missense	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86919061A>T		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2165A>T	1.37:g.86919061A>T	ENSP00000359596:p.Gln722Leu						p.Q722L	NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	13	2327	+		Lung NSC(277;0.238)	722			Extracellular (Potential).		A8K2T3|Q9Y6N2	Missense_Mutation	SNP	ENST00000370565.4	37	c.2165A>T	CCDS708.1	.	.	.	.	.	.	.	.	.	.	A	13.87	2.367153	0.41902	.	.	ENSG00000137975	ENST00000370565	T	0.03094	4.05	5.72	3.28	0.37604	.	0.300981	0.31082	N	0.008281	T	0.02267	0.0070	M	0.77616	2.38	0.34900	D	0.74642	P	0.52842	0.956	B	0.44224	0.444	T	0.47262	-0.9131	10	0.27785	T	0.31	-5.9555	3.6108	0.08060	0.6588:0.1373:0.072:0.1319	.	722	Q9UQC9	CLCA2_HUMAN	L	722	ENSP00000359596:Q722L	ENSP00000359596:Q722L	Q	+	2	0	CLCA2	86691649	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.163000	0.50763	1.116000	0.41820	0.529000	0.55759	CAG		0.413	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		7	45	0	0	0	0.00308	0	7	45				
RPAP2	79871	broad.mit.edu	37	1	92789427	92789427	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:92789427G>A	ENST00000610020.1	+	8	1059	c.950G>A	c.(949-951)aGt>aAt	p.S317N	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	317					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AATTCTGAAAGTGAATACAGT	0.343																																							uc001dot.2		NA																	0				ovary(1)	1						c.(949-951)AGT>AAT		RNA polymerase II associated protein 2							59.0	66.0	64.0					1																	92789427		2200	4299	6499	SO:0001583	missense	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92789427G>A	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.950G>A	1.37:g.92789427G>A	ENSP00000476948:p.Ser317Asn					RPAP2_uc009wdh.2_RNA	p.S317N	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	8	1059	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	317					C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	c.950G>A	CCDS740.1	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.303012	0.01353	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	6.07	-4.3	0.03710	.	0.687321	0.15517	N	0.258229	T	0.02304	0.0071	N	0.01352	-0.895	0.23331	N	0.997895	B	0.02656	0.0	B	0.01281	0.0	T	0.38265	-0.9669	8	0.13108	T	0.6	-1.1767	4.6491	0.12585	0.3812:0.0:0.311:0.3078	.	317	Q8IXW5	RPAP2_HUMAN	N	317	.	ENSP00000359368:S317N	S	+	2	0	RPAP2	92562015	0.000000	0.05858	0.316000	0.25252	0.420000	0.31355	-0.093000	0.11111	-0.665000	0.05317	-0.302000	0.09304	AGT		0.343	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		15	45	0	0	0	0.00245	0	15	45				
PTBP2	58155	broad.mit.edu	37	1	97243402	97243402	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:97243402A>T	ENST00000426398.2	+	7	651	c.608A>T	c.(607-609)aAg>aTg	p.K203M	PTBP2_ENST00000394184.3_Missense_Mutation_p.K214M|PTBP2_ENST00000370197.1_Missense_Mutation_p.K203M|PTBP2_ENST00000541987.1_Missense_Mutation_p.K172M|PTBP2_ENST00000609116.1_Missense_Mutation_p.K203M|PTBP2_ENST00000370198.1_Missense_Mutation_p.K203M|PTBP2_ENST00000482253.1_3'UTR	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	203	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		ATATTTTCTAAGTTTGGTGCT	0.269																																							uc001drq.2		NA																	0					0						c.(607-609)AAG>ATG		polypyrimidine tract binding protein 2							58.0	63.0	61.0					1																	97243402		2201	4296	6497	SO:0001583	missense	58155						nucleotide binding	g.chr1:97243402A>T	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.608A>T	1.37:g.97243402A>T	ENSP00000412788:p.Lys203Met					PTBP2_uc001drn.2_Missense_Mutation_p.K203M|PTBP2_uc001dro.2_Missense_Mutation_p.K203M|PTBP2_uc010otz.1_Missense_Mutation_p.K214M|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.K151M|PTBP2_uc001drr.2_Missense_Mutation_p.K203M|PTBP2_uc010oua.1_Missense_Mutation_p.K211M|PTBP2_uc001dru.2_RNA	p.K203M	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	7	854	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	203			RRM 2.		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	c.608A>T	CCDS754.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495634	0.85069	.	.	ENSG00000117569	ENST00000236228;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184;ENST00000541987;ENST00000394176	T;T;T;T;T;T	0.79454	0.74;0.74;0.74;0.74;0.74;-1.27	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.88243	0.6384	M	0.86805	2.84	0.80722	D	1	P;D;D;P;P;P	0.65815	0.575;0.995;0.982;0.887;0.52;0.863	D;D;D;D;P;D	0.85130	0.934;0.997;0.987;0.934;0.892;0.912	D	0.90180	0.4242	10	0.87932	D	0	-3.3071	16.5602	0.84551	1.0:0.0:0.0:0.0	.	211;214;203;203;203;203	B4DSU5;B4DSS8;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3	.;.;.;PTBP2_HUMAN;.;.	M	203;203;203;203;214;172;193	ENSP00000236228:K203M;ENSP00000359217:K203M;ENSP00000359216:K203M;ENSP00000412788:K203M;ENSP00000377738:K214M;ENSP00000442475:K172M	ENSP00000236228:K203M	K	+	2	0	PTBP2	97015990	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.910000	0.92685	2.367000	0.80283	0.528000	0.53228	AAG		0.269	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			5	39	0	0	0	0.001168	0	5	39				
COL11A1	1301	broad.mit.edu	37	1	103354185	103354185	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:103354185C>A	ENST00000370096.3	-	62	4868	c.4556G>T	c.(4555-4557)gGa>gTa	p.G1519V	COL11A1_ENST00000512756.1_Splice_Site_p.G1403V|COL11A1_ENST00000358392.2_Splice_Site_p.G1531V|COL11A1_ENST00000353414.4_Splice_Site_p.G1480V	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1519	Collagen-like 8.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCAGCGGGTCCCTGTTAGAA	0.413																																							uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(4555-4557)GGA>GTA		alpha 1 type XI collagen isoform A							68.0	70.0	69.0					1																	103354185		2203	4300	6503	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103354185C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4555-1G>T	1.37:g.103354185C>A						COL11A1_uc001duk.2_Missense_Mutation_p.G715V|COL11A1_uc001dum.2_Missense_Mutation_p.G1531V|COL11A1_uc001dun.2_Missense_Mutation_p.G1480V|COL11A1_uc009weh.2_Missense_Mutation_p.G1403V	p.G1519V	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	62	4874	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1519			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4556G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667591	0.67814	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29	5.67	5.67	0.87782	.	0.053328	0.85682	D	0.000000	D	0.99846	0.9929	H	0.97440	4.005	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.998	D	0.96910	0.9666	10	0.72032	D	0.01	.	19.7775	0.96400	0.0:1.0:0.0:0.0	.	1403;1480;1531;1519;739	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	V	1519;1531;1480;739;1403	ENSP00000359114:G1519V;ENSP00000351163:G1531V;ENSP00000302551:G1480V;ENSP00000426533:G1403V	ENSP00000302551:G1480V	G	-	2	0	COL11A1	103126773	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.487000	0.81328	2.680000	0.91292	0.655000	0.94253	GGA		0.413	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Missense_Mutation	11	20	1	0	0.000219431	0.00245	0.000269587	11	20				
STRIP1	85369	broad.mit.edu	37	1	110581882	110581882	+	Missense_Mutation	SNP	G	G	T	rs372334086		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:110581882G>T	ENST00000369795.3	+	4	436	c.414G>T	c.(412-414)agG>agT	p.R138S	STRIP1_ENST00000369794.2_Missense_Mutation_p.R138S|STRIP1_ENST00000369796.1_Missense_Mutation_p.R43S	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	138					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											TCACTGCCAGGGAGAAGAGAC	0.567																																							uc001dza.1		NA																	0				ovary(3)|large_intestine(1)	4						c.(412-414)AGG>AGT		hypothetical protein LOC85369							87.0	90.0	89.0					1																	110581882		2203	4300	6503	SO:0001583	missense	85369					nucleus	protein binding	g.chr1:110581882G>T	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.414G>T	1.37:g.110581882G>T	ENSP00000358810:p.Arg138Ser					FAM40A_uc001dyz.1_Missense_Mutation_p.R43S|FAM40A_uc009wfp.1_5'UTR	p.R138S	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)	4	433	+		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	138					Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	c.414G>T	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517424	0.44763	.	.	ENSG00000143093	ENST00000369796;ENST00000369795;ENST00000369794	T;T	0.43688	0.94;0.98	6.03	3.56	0.40772	.	0.046289	0.85682	D	0.000000	T	0.29524	0.0736	M	0.75085	2.285	0.58432	D	0.999996	B	0.26744	0.158	B	0.41412	0.356	T	0.15780	-1.0425	10	0.20046	T	0.44	-23.9975	5.9057	0.19001	0.2874:0.1404:0.5722:0.0	.	138	Q5VSL9	FA40A_HUMAN	S	43;138;138	ENSP00000358811:R43S;ENSP00000358810:R138S	ENSP00000358809:R138S	R	+	3	2	FAM40A	110383405	0.998000	0.40836	1.000000	0.80357	0.841000	0.47740	0.431000	0.21444	0.512000	0.28257	0.555000	0.69702	AGG		0.567	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		5	26	1	0	5.9392e-07	0.001168	8.56639e-07	5	26				
VANGL1	81839	broad.mit.edu	37	1	116226686	116226686	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:116226686G>T	ENST00000355485.2	+	6	1339	c.1068G>T	c.(1066-1068)aaG>aaT	p.K356N	VANGL1_ENST00000310260.3_Missense_Mutation_p.K356N|VANGL1_ENST00000369510.4_Missense_Mutation_p.K354N|VANGL1_ENST00000369509.1_Missense_Mutation_p.K356N|VANGL1_ENST00000474344.1_3'UTR	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	356					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)		GAGTAAAGAAGCGGAAAGCAA	0.433																																							uc001efv.1		NA																	0				central_nervous_system(1)	1						c.(1066-1068)AAG>AAT		vang-like 1							81.0	71.0	75.0					1																	116226686		2203	4300	6503	SO:0001583	missense	81839				multicellular organismal development	integral to membrane	protein binding	g.chr1:116226686G>T	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.1068G>T	1.37:g.116226686G>T	ENSP00000347672:p.Lys356Asn					VANGL1_uc009wgy.1_Missense_Mutation_p.K354N	p.K356N	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)	6	1339	+	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)	356			Cytoplasmic (Potential).		Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	c.1068G>T	CCDS883.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219676	0.39201	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	4.58	3.58	0.41010	.	0.103879	0.64402	D	0.000003	D	0.83271	0.5218	M	0.89414	3.03	0.58432	D	0.999998	P;P	0.47484	0.874;0.896	B;P	0.45377	0.347;0.478	D	0.86047	0.1523	10	0.87932	D	0	-14.3351	6.4534	0.21916	0.2928:0.0:0.7072:0.0	.	354;356	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	N	356;354;356;356	ENSP00000347672:K356N;ENSP00000358523:K354N;ENSP00000310800:K356N;ENSP00000358522:K356N	ENSP00000310800:K356N	K	+	3	2	VANGL1	116028209	0.997000	0.39634	1.000000	0.80357	0.118000	0.20060	0.459000	0.21908	2.366000	0.80165	0.551000	0.68910	AAG		0.433	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1			4	34	1	0	0.00909568	0.009096	0.00988598	4	34				
GJA5	2702	broad.mit.edu	37	1	147230977	147230977	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:147230977C>A	ENST00000271348.2	-	2	531	c.370G>T	c.(370-372)Gag>Tag	p.E124*	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Nonsense_Mutation_p.E124*	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	124					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			ACCGGGTACTCGTAAGAGCCA	0.607																																							uc001eps.1		NA																	0				ovary(1)	1						c.(370-372)GAG>TAG		connexin 40							68.0	66.0	67.0					1																	147230977		2203	4300	6503	SO:0001587	stop_gained	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230977C>A		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.370G>T	1.37:g.147230977C>A	ENSP00000271348:p.Glu124*					GJA5_uc001ept.1_Nonsense_Mutation_p.E124*	p.E124*	NM_181703	NP_859054	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	511	-	all_hematologic(923;0.0276)		124			Cytoplasmic (Potential).		Q5T3B6|Q5U0N6	Nonsense_Mutation	SNP	ENST00000271348.2	37	c.370G>T	CCDS929.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046307	0.55110	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	.	.	.	5.28	3.35	0.38373	.	0.574012	0.17460	N	0.173497	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	4.8624	0.13590	0.1433:0.4993:0.2782:0.0792	.	.	.	.	X	124	.	ENSP00000271348:E124X	E	-	1	0	GJA5	145697601	1.000000	0.71417	0.326000	0.25389	0.142000	0.21351	1.968000	0.40500	0.753000	0.32945	0.655000	0.94253	GAG		0.607	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		12	60	1	0	0.000219431	0.00245	0.000269587	12	60				
SELENBP1	8991	broad.mit.edu	37	1	151338815	151338815	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:151338815T>A	ENST00000368868.5	-	7	870	c.779A>T	c.(778-780)gAc>gTc	p.D260V	SELENBP1_ENST00000426705.2_Missense_Mutation_p.D302V|SELENBP1_ENST00000447402.3_Missense_Mutation_p.D198V|SELENBP1_ENST00000435071.1_Missense_Mutation_p.D196V|SELENBP1_ENST00000473693.1_5'Flank	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	260				DAA -> SAT (in Ref. 1; AAB02395). {ECO:0000305}.	protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTGGGCAGCGTCTGGGTTGTG	0.562																																							uc001exx.2		NA																	0					0						c.(778-780)GAC>GTC		selenium binding protein 1							125.0	127.0	126.0					1																	151338815		2203	4300	6503	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151338815T>A	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.779A>T	1.37:g.151338815T>A	ENSP00000357861:p.Asp260Val					SELENBP1_uc010pcy.1_Missense_Mutation_p.D302V|SELENBP1_uc001exy.2_Missense_Mutation_p.D157V|SELENBP1_uc001exz.2_Missense_Mutation_p.D157V|SELENBP1_uc010pcz.1_Missense_Mutation_p.D198V|SELENBP1_uc009wms.2_Missense_Mutation_p.D96V|SELENBP1_uc009wmt.2_Missense_Mutation_p.D157V|SELENBP1_uc001eya.2_Missense_Mutation_p.D196V|SELENBP1_uc009wmu.2_Missense_Mutation_p.D157V	p.D260V	NM_003944	NP_003935	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		7	826	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		260	DAA -> SAT (in Ref. 1; AAB02395).				A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.779A>T	CCDS995.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.171|6.171	0.399822|0.399822	0.11696|0.11696	.|.	.|.	ENSG00000143416|ENSG00000143416	ENST00000368868;ENST00000447402;ENST00000435071;ENST00000458566;ENST00000426705|ENST00000424475	T;T;T;T;T|.	0.45276|.	0.9;0.9;0.9;2.03;2.03|.	4.32|4.32	-5.97|-5.97	0.02227|0.02227	WD40/YVTN repeat-like-containing domain (1);|.	0.826925|.	0.11103|.	N|.	0.599418|.	T|T	0.26231|0.26231	0.0640|0.0640	L|L	0.56124|0.56124	1.755|1.755	0.19575|0.19575	N|N	0.999968|0.999968	B;B;B;B;B;B;B;B|.	0.31752|.	0.338;0.27;0.27;0.155;0.172;0.045;0.035;0.045|.	B;B;B;B;B;B;B;B|.	0.39971|.	0.305;0.275;0.315;0.172;0.275;0.09;0.028;0.13|.	T|T	0.45804|0.45804	-0.9236|-0.9236	10|5	0.37606|.	T|.	0.19|.	-16.6198|-16.6198	10.6217|10.6217	0.45484|0.45484	0.0:0.0745:0.4823:0.4432|0.0:0.0745:0.4823:0.4432	.|.	198;302;220;244;196;113;196;260|.	B4E1F3;A6PVW9;A6PVW8;A6PVX1;Q9H8A8;B4DPI7;Q13228-2;Q13228|.	.;.;.;.;.;.;.;SBP1_HUMAN|.	V|S	260;198;196;244;302|221	ENSP00000357861:D260V;ENSP00000413960:D198V;ENSP00000408263:D196V;ENSP00000406222:D244V;ENSP00000397261:D302V|.	ENSP00000357861:D260V|.	D|T	-|-	2|1	0|0	SELENBP1|SELENBP1	149605439|149605439	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.151000|0.151000	0.21798|0.21798	-0.154000|-0.154000	0.10130|0.10130	-0.785000|-0.785000	0.04522|0.04522	0.334000|0.334000	0.21626|0.21626	GAC|ACG		0.562	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			20	102	0	0	0	0.014323	0	20	102				
TCHHL1	126637	broad.mit.edu	37	1	152057599	152057599	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:152057599G>T	ENST00000368806.1	-	3	2623	c.2559C>A	c.(2557-2559)agC>agA	p.S853R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	853							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTGATGCTTGGCTGTAGTTGA	0.498																																							uc001ezo.1		NA																	0				ovary(1)|skin(1)	2						c.(2557-2559)AGC>AGA		trichohyalin-like 1							202.0	180.0	187.0					1																	152057599		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152057599G>T		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2559C>A	1.37:g.152057599G>T	ENSP00000357796:p.Ser853Arg						p.S853R	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2624	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		853					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.2559C>A	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	7.996	0.754304	0.15778	.	.	ENSG00000182898	ENST00000368806	T	0.27557	1.66	4.03	-2.6	0.06190	.	0.388740	0.18950	N	0.126707	T	0.04003	0.0112	N	0.19112	0.55	0.09310	N	1	B	0.21821	0.061	B	0.23150	0.044	T	0.38436	-0.9661	10	0.17369	T	0.5	-0.0033	2.8194	0.05467	0.3675:0.0:0.2672:0.3653	.	853	Q5QJ38	TCHL1_HUMAN	R	853	ENSP00000357796:S853R	ENSP00000357796:S853R	S	-	3	2	TCHHL1	150324223	0.212000	0.23540	0.002000	0.10522	0.034000	0.12701	-0.354000	0.07681	-0.259000	0.09432	-0.229000	0.12294	AGC		0.498	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		18	80	1	0	6.49762e-13	0.006122	1.17025e-12	18	80				
FLG	2312	broad.mit.edu	37	1	152280768	152280768	+	Silent	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:152280768T>C	ENST00000368799.1	-	3	6629	c.6594A>G	c.(6592-6594)caA>caG	p.Q2198Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2198	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATCTCCTGATTGTTCCTTGT	0.542									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6592-6594)CAA>CAG		filaggrin							463.0	397.0	419.0					1																	152280768		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:152280768T>C	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.6594A>G	1.37:g.152280768T>C							p.Q2198Q	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6630	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2198			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.6594A>G	CCDS30860.1																																																																																				0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		14	463	0	0	0	0.003163	0	14	463				
FLG2	388698	broad.mit.edu	37	1	152326682	152326682	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:152326682G>T	ENST00000388718.5	-	3	3652	c.3580C>A	c.(3580-3582)Caa>Aaa	p.Q1194K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1194	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)			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)			GATATATGTTGTCCAGAACTA	0.483																																							uc001ezw.3		NA																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(3580-3582)CAA>AAA		filaggrin family member 2							103.0	101.0	101.0					1																	152326682		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326682G>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3580C>A	1.37:g.152326682G>T	ENSP00000373370:p.Gln1194Lys					uc001ezv.2_Intron	p.Q1194K	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3653	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1194			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3580C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	0.896	-0.723955	0.03158	.	.	ENSG00000143520	ENST00000388718	T	0.05139	3.49	2.67	0.229	0.15368	.	.	.	.	.	T	0.01156	0.0038	L	0.46157	1.445	0.09310	N	1	B	0.21225	0.053	B	0.15052	0.012	T	0.49062	-0.8978	9	0.06236	T	0.91	.	4.4392	0.11566	0.0:0.2178:0.459:0.3231	.	1194	Q5D862	FILA2_HUMAN	K	1194	ENSP00000373370:Q1194K	ENSP00000373370:Q1194K	Q	-	1	0	FLG2	150593306	0.242000	0.23868	0.000000	0.03702	0.238000	0.25445	2.000000	0.40816	-0.085000	0.12573	0.306000	0.20318	CAA		0.483	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		19	83	1	0	8.28177e-16	0.007413	1.56535e-15	19	83				
RPS27	6232	broad.mit.edu	37	1	153963616	153963616	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:153963616C>T	ENST00000368567.4	+	2	70	c.32C>T	c.(31-33)tCt>tTt	p.S11F	RPS27_ENST00000493224.1_3'UTR|RPS27_ENST00000392558.4_Missense_Mutation_p.S11F	NM_001030.4	NP_001021.1	P42677	RS27_HUMAN	ribosomal protein S27	11					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|nucleus (GO:0005634)|ribosome (GO:0005840)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|zinc ion binding (GO:0008270)			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTTCATCCCTCTCCAGAAGAG	0.498																																							uc001fdv.2		NA																	0					0						c.(31-33)TCT>TTT		ribosomal protein S27							77.0	67.0	70.0					1																	153963616		2202	4299	6501	SO:0001583	missense	6232				cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding	g.chr1:153963616C>T	U57847	CCDS1059.1	1q21	2011-04-06	2008-08-29		ENSG00000177954	ENSG00000177954		"""S ribosomal proteins"""	10416	protein-coding gene	gene with protein product	"""metallopanstimulin 1"""	603702	"""ribosomal protein S27 (metallopanstimulin 1)"""			8908372, 8407955	Standard	NM_001030		Approved	MPS-1, MPS1, S27	uc001fdv.3	P42677	OTTHUMG00000036591	ENST00000368567.4:c.32C>T	1.37:g.153963616C>T	ENSP00000357555:p.Ser11Phe						p.S11F	NM_001030	NP_001021	P42677	RS27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	66	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		11					Q5T4L6	Missense_Mutation	SNP	ENST00000368567.4	37	c.32C>T	CCDS1059.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262443	0.80358	.	.	ENSG00000177954	ENST00000368567;ENST00000392558	.	.	.	5.06	5.06	0.68205	.	0.226336	0.27076	N	0.021052	T	0.46249	0.1383	.	.	.	0.36923	D	0.891503	B	0.18461	0.028	B	0.23150	0.044	T	0.51585	-0.8687	8	0.72032	D	0.01	-0.7744	17.4153	0.87498	0.0:1.0:0.0:0.0	.	11	P42677	RS27_HUMAN	F	11	.	ENSP00000357555:S11F	S	+	2	0	RPS27	152230240	0.991000	0.36638	1.000000	0.80357	0.901000	0.52897	2.787000	0.47798	2.647000	0.89833	0.555000	0.69702	TCT		0.498	RPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088997.1	NM_001030		6	13	0	0	0	0.001168	0	6	13				
NES	10763	broad.mit.edu	37	1	156640315	156640315	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:156640315C>A	ENST00000368223.3	-	4	3797	c.3665G>T	c.(3664-3666)aGc>aTc	p.S1222I		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1222	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTACGTTGGGCTGGGGGAGAC	0.647																																							uc001fpq.2		NA																	0				ovary(6)	6						c.(3664-3666)AGC>ATC		nestin							78.0	77.0	77.0					1																	156640315		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156640315C>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3665G>T	1.37:g.156640315C>A	ENSP00000357206:p.Ser1222Ile						p.S1222I	NM_006617	NP_006608	P48681	NEST_HUMAN			4	3798	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1222			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.3665G>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405889	0.42715	.	.	ENSG00000132688	ENST00000368223	D	0.87809	-2.3	3.34	2.39	0.29439	.	.	.	.	.	D	0.84732	0.5537	L	0.59436	1.845	0.09310	N	1	D	0.65815	0.995	P	0.60682	0.878	T	0.74999	-0.3472	9	0.72032	D	0.01	.	7.4105	0.27016	0.0:0.8654:0.0:0.1346	.	1222	P48681	NEST_HUMAN	I	1222	ENSP00000357206:S1222I	ENSP00000357206:S1222I	S	-	2	0	NES	154906939	0.000000	0.05858	0.023000	0.16930	0.062000	0.15995	-0.375000	0.07475	0.646000	0.30693	0.460000	0.39030	AGC		0.647	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		19	83	1	0	2.4624e-09	0.008871	3.88562e-09	19	83				
FCRL1	115350	broad.mit.edu	37	1	157771743	157771743	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:157771743C>A	ENST00000368176.3	-	5	915	c.848G>T	c.(847-849)gGg>gTg	p.G283V	FCRL1_ENST00000358292.3_Missense_Mutation_p.G283V|FCRL1_ENST00000491942.1_Missense_Mutation_p.G283V|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	283	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCGCTGGGCCCCCAGGCCATT	0.572																																					GBM(54;482 1003 11223 30131 35730)	GBM(54;482 1003 11223 30131 35730)	uc001frg.2		NA																	0				skin(4)|ovary(3)	7						c.(847-849)GGG>GTG		Fc receptor-like 1 isoform 1 precursor							79.0	83.0	82.0					1																	157771743		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157771743C>A	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.848G>T	1.37:g.157771743C>A	ENSP00000357158:p.Gly283Val					FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.G283V|FCRL1_uc001fri.2_Missense_Mutation_p.G283V|FCRL1_uc001frj.2_RNA	p.G283V	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		5	961	-	all_hematologic(112;0.0378)		283			Ig-like C2-type 3.|Extracellular (Potential).		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.848G>T	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218871	0.39201	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.03982	3.74;3.74;3.74	5.1	-0.338	0.12651	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.704906	0.13852	N	0.358269	T	0.07458	0.0188	M	0.91920	3.255	0.19300	N	0.99997	D;P;B	0.60160	0.987;0.934;0.261	P;P;B	0.56398	0.797;0.745;0.042	T	0.06391	-1.0829	10	0.72032	D	0.01	.	2.9669	0.05910	0.3531:0.3532:0.0:0.2937	.	283;283;283	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	V	283	ENSP00000351039:G283V;ENSP00000357158:G283V;ENSP00000418130:G283V	ENSP00000351039:G283V	G	-	2	0	FCRL1	156038367	0.000000	0.05858	0.002000	0.10522	0.918000	0.54935	-0.156000	0.10100	0.062000	0.16340	-0.187000	0.12897	GGG		0.572	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		15	55	1	0	1.15088e-07	0.004007	1.72506e-07	15	55				
OR6K3	391114	broad.mit.edu	37	1	158687441	158687441	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:158687441G>A	ENST00000368146.1	-	1	512	c.513C>T	c.(511-513)atC>atT	p.I171I	OR6K3_ENST00000368145.1_Silent_p.I155I			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	171						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)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CGGGAAGCAGGATAAGGAAAC	0.522																																							uc010pip.1		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(511-513)ATC>ATT		olfactory receptor, family 6, subfamily K,							100.0	101.0	100.0					1																	158687441		2203	4300	6503	SO:0001819	synonymous_variant	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687441G>A	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.513C>T	1.37:g.158687441G>A							p.I171I	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	513	-	all_hematologic(112;0.0378)		171			Helical; Name=4; (Potential).		Q5VUV0|Q6IFR5	Silent	SNP	ENST00000368146.1	37	c.513C>T																																																																																					0.522	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				11	68	0	0	0	0.010729	0	11	68				
OR6K3	391114	broad.mit.edu	37	1	158687910	158687910	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:158687910C>A	ENST00000368146.1	-	1	43	c.44G>T	c.(43-45)aGa>aTa	p.R15I	OR6K3_ENST00000368145.1_5'Flank			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	15						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)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CTCCATATTTCTAGTAGAGCT	0.398																																							uc010pip.1		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(43-45)AGA>ATA		olfactory receptor, family 6, subfamily K,							45.0	44.0	44.0					1																	158687910		2203	4299	6502	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687910C>A	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.44G>T	1.37:g.158687910C>A	ENSP00000357128:p.Arg15Ile						p.R15I	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	44	-	all_hematologic(112;0.0378)		15			Extracellular (Potential).		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.44G>T		.	.	.	.	.	.	.	.	.	.	C	9.477	1.097107	0.20552	.	.	ENSG00000203757	ENST00000368146	T	0.02944	4.1	3.12	1.19	0.21007	.	.	.	.	.	T	0.00637	0.0021	.	.	.	0.09310	N	1	B	0.21309	0.054	B	0.20955	0.032	T	0.45381	-0.9265	7	.	.	.	.	6.8612	0.24067	0.1741:0.7244:0.0:0.1015	.	15	Q8NGY3	OR6K3_HUMAN	I	15	ENSP00000357128:R15I	.	R	-	2	0	OR6K3	156954534	.	.	0.007000	0.13788	0.085000	0.17905	.	.	0.336000	0.23639	0.440000	0.28878	AGA		0.398	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				6	18	1	0	2.0095e-06	0.001984	2.82727e-06	6	18				
ITLN1	55600	broad.mit.edu	37	1	160850418	160850418	+	Silent	SNP	G	G	A	rs142057123		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:160850418G>A	ENST00000326245.3	-	6	760	c.645C>T	c.(643-645)gaC>gaT	p.D215D	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	215	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TTTTCTGGGCGTCGCCAAAAT	0.438																																							uc001fxc.2		NA																	0				ovary(2)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)	7						c.(643-645)GAC>GAT		intelectin precursor		G		0,4406		0,0,2203	182.0	182.0	182.0		645	0.4	0.9	1	dbSNP_134	182	1,8599	819.2+/-406.8	0,1,4299	no	coding-synonymous	ITLN1	NM_017625.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		215/314	160850418	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55600				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	g.chr1:160850418G>A	AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.645C>T	1.37:g.160850418G>A							p.D215D	NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		6	761	-	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		215			Fibrinogen C-terminal.		Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Silent	SNP	ENST00000326245.3	37	c.645C>T	CCDS1211.1																																																																																				0.438	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071462.1	NM_017625		11	131	0	0	0	0.013537	0	11	131				
FCER1G	2207	broad.mit.edu	37	1	161188716	161188716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:161188716G>T	ENST00000289902.1	+	5	269	c.244G>T	c.(244-246)Gag>Tag	p.E82*	FCER1G_ENST00000490414.1_3'UTR|AL590714.1_ENST00000594609.1_5'Flank|FCER1G_ENST00000367992.3_Intron	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	82	ITAM. {ECO:0000255|PROSITE- ProRule:PRU00379}.				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 II (GO:0019886)|blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|negative regulation of mast cell apoptotic process (GO:0033026)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|phagocytosis, engulfment (GO:0006911)|platelet activation (GO:0030168)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I hypersensitivity (GO:0001812)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|protein localization to plasma membrane (GO:0072659)|regulation of platelet activation (GO:0010543)|serotonin secretion by platelet (GO:0002554)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	TCTGAAGCATGAGAAACCACC	0.532																																							uc001fyz.1		NA																	0					0						c.(244-246)GAG>TAG		Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)						132.0	133.0	133.0					1																	161188716		2203	4300	6503	SO:0001587	stop_gained	2207				platelet activation	integral to plasma membrane		g.chr1:161188716G>T		CCDS1225.1	1q23	2008-02-05			ENSG00000158869	ENSG00000158869			3611	protein-coding gene	gene with protein product		147139				2138619	Standard	NM_004106		Approved		uc001fyz.1	P30273	OTTHUMG00000034343	ENST00000289902.1:c.244G>T	1.37:g.161188716G>T	ENSP00000289902:p.Glu82*					FCER1G_uc001fza.1_Nonsense_Mutation_p.E83*	p.E82*	NM_004106	NP_004097	P30273	FCERG_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	269	+	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		82			ITAM.|Cytoplasmic (Potential).		Q5VTW4	Nonsense_Mutation	SNP	ENST00000289902.1	37	c.244G>T	CCDS1225.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756613	0.69648	.	.	ENSG00000158869	ENST00000289902	.	.	.	5.16	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.27742	N	0.944454	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6626	0.51356	0.0:0.1792:0.8208:0.0	.	.	.	.	X	82	.	ENSP00000289902:E82X	E	+	1	0	FCER1G	159455340	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.969000	0.49232	1.138000	0.42230	0.561000	0.74099	GAG		0.532	FCER1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083012.1	NM_004106		7	43	1	0	0.00307968	0.00308	0.00347347	7	43				
ILDR2	387597	broad.mit.edu	37	1	166904624	166904624	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:166904624C>T	ENST00000271417.3	-	6	849	c.794G>A	c.(793-795)gGa>gAa	p.G265E	ILDR2_ENST00000529071.1_Missense_Mutation_p.G246E|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000469934.2_Missense_Mutation_p.G265E|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000526687.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	265					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						GGGGGCTCCTCCCAAAGGGAC	0.597																																							uc001gdx.1		NA																	0				ovary(1)	1						c.(793-795)GGA>GAA		immunoglobulin-like domain containing receptor							70.0	68.0	69.0					1																	166904624		2203	4300	6503	SO:0001583	missense	387597					integral to membrane		g.chr1:166904624C>T	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.794G>A	1.37:g.166904624C>T	ENSP00000271417:p.Gly265Glu						p.G265E	NM_199351	NP_955383	Q71H61	ILDR2_HUMAN			6	850	-			265			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000271417.3	37	c.794G>A	CCDS1256.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970386	0.53614	.	.	ENSG00000143195	ENST00000271417;ENST00000469934;ENST00000529071	T;T;T	0.56776	0.46;0.49;0.44	5.67	5.67	0.87782	.	0.186087	0.47093	D	0.000253	T	0.35682	0.0940	L	0.44542	1.39	0.80722	D	1	D	0.59767	0.986	P	0.49637	0.617	T	0.24621	-1.0155	10	0.07030	T	0.85	.	14.6518	0.68803	0.0:0.8444:0.1556:0.0	.	265	Q71H61	ILDR2_HUMAN	E	265;265;246	ENSP00000271417:G265E;ENSP00000437008:G265E;ENSP00000436882:G246E	ENSP00000271417:G265E	G	-	2	0	ILDR2	165171248	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.206000	0.42779	2.666000	0.90696	0.561000	0.74099	GGA		0.597	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		9	56	0	0	0	0.006214	0	9	56				
DUSP27	92235	broad.mit.edu	37	1	167088547	167088547	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:167088547G>C	ENST00000361200.2	+	5	665	c.499G>C	c.(499-501)Gcg>Ccg	p.A167P	DUSP27_ENST00000443333.1_Missense_Mutation_p.A167P|DUSP27_ENST00000271385.5_Missense_Mutation_p.A167P			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	167					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCTGAATGCTGCGCATGGCAC	0.562																																							uc001geb.1		NA																	0				ovary(3)	3						c.(499-501)GCG>CCG		dual specificity phosphatase 27							116.0	107.0	110.0					1																	167088547		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167088547G>C	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.499G>C	1.37:g.167088547G>C	ENSP00000354483:p.Ala167Pro						p.A167P	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			4	499	+			167					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.499G>C	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074346	0.94000	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.61510	0.1;0.1;0.1	4.75	4.75	0.60458	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.79015	0.4375	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.85326	0.1087	10	0.87932	D	0	-15.2894	17.7499	0.88430	0.0:0.0:1.0:0.0	.	167	Q5VZP5	DUS27_HUMAN	P	167	ENSP00000354483:A167P;ENSP00000271385:A167P;ENSP00000404874:A167P	ENSP00000271385:A167P	A	+	1	0	DUSP27	165355171	1.000000	0.71417	0.944000	0.38274	0.982000	0.71751	9.476000	0.97823	2.169000	0.68431	0.591000	0.81541	GCG		0.562	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		8	27	0	0	0	0.008291	0	8	27				
DUSP27	92235	broad.mit.edu	37	1	167095924	167095924	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:167095924A>T	ENST00000361200.2	+	6	1722	c.1556A>T	c.(1555-1557)gAt>gTt	p.D519V	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.D519V|DUSP27_ENST00000271385.5_Missense_Mutation_p.D519V			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	519					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGGGAGGATGATGAGGACAGC	0.567																																							uc001geb.1		NA																	0				ovary(3)	3						c.(1555-1557)GAT>GTT		dual specificity phosphatase 27							77.0	70.0	72.0					1																	167095924		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095924A>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1556A>T	1.37:g.167095924A>T	ENSP00000354483:p.Asp519Val						p.D519V	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	1556	+			519					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.1556A>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	A	11.47	1.647449	0.29246	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.05786	3.39;3.39;3.39	5.14	5.14	0.70334	.	0.076603	0.50627	D	0.000111	T	0.16300	0.0392	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00670	-1.1617	10	0.87932	D	0	-18.3224	14.9752	0.71267	1.0:0.0:0.0:0.0	.	519	Q5VZP5	DUS27_HUMAN	V	519	ENSP00000354483:D519V;ENSP00000271385:D519V;ENSP00000404874:D519V	ENSP00000271385:D519V	D	+	2	0	DUSP27	165362548	1.000000	0.71417	0.173000	0.22940	0.006000	0.05464	7.104000	0.77024	1.924000	0.55735	0.523000	0.50628	GAT		0.567	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		14	36	0	0	0	0.001855	0	14	36				
PAPPA2	60676	broad.mit.edu	37	1	176740128	176740128	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:176740128T>A	ENST00000367662.3	+	17	5691	c.4527T>A	c.(4525-4527)ctT>ctA	p.L1509L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1509	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGACATGTCTTGAAGATGGTC	0.483																																							uc001gkz.2		NA																	0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4525-4527)CTT>CTA		pappalysin 2 isoform 1							147.0	137.0	140.0					1																	176740128		2011	4193	6204	SO:0001819	synonymous_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176740128T>A	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4527T>A	1.37:g.176740128T>A						PAPPA2_uc009www.2_RNA	p.L1509L	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			17	5691	+			1509			Sushi 2.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Silent	SNP	ENST00000367662.3	37	c.4527T>A	CCDS41438.1																																																																																				0.483	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			21	57	0	0	0	0.00333	0	21	57				
ASTN1	460	broad.mit.edu	37	1	176913034	176913034	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:176913034G>T	ENST00000367654.3	-	14	2605	c.2394C>A	c.(2392-2394)ttC>ttA	p.F798L	ASTN1_ENST00000367657.3_Missense_Mutation_p.F790L|ASTN1_ENST00000361833.2_Missense_Mutation_p.F790L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.F790L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	798					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)				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						CACCAGTCAGGAAGTCAGGGT	0.498																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2368-2370)TTC>TTA		astrotactin isoform 1							89.0	77.0	81.0					1																	176913034		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176913034G>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.2394C>A	1.37:g.176913034G>T	ENSP00000356626:p.Phe798Leu					ASTN1_uc001glb.1_Missense_Mutation_p.F790L|ASTN1_uc001gld.1_Missense_Mutation_p.F790L|ASTN1_uc009wwx.1_Missense_Mutation_p.F790L	p.F790L	NM_004319	NP_004310	O14525	ASTN1_HUMAN			14	2582	-			798					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2370C>A		.	.	.	.	.	.	.	.	.	.	G	10.24	1.296517	0.23650	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.48	4.57	0.56435	.	0.101184	0.64402	D	0.000001	T	0.25044	0.0608	N	0.08118	0	0.80722	D	1	B;B;B	0.33171	0.4;0.03;0.03	B;B;B	0.36464	0.225;0.055;0.055	T	0.14337	-1.0476	10	0.02654	T	1	-27.8457	11.105	0.48197	0.1498:0.0:0.8502:0.0	.	798;790;790	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	L	790;790;798;790;790	ENSP00000356629:F790L;ENSP00000354536:F790L;ENSP00000356626:F798L;ENSP00000395041:F790L	ENSP00000354536:F790L	F	-	3	2	ASTN1	175179657	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.583000	0.46094	1.317000	0.45149	0.655000	0.94253	TTC		0.498	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		7	24	1	0	0.00198382	0.001984	0.00225226	7	24				
ASTN1	460	broad.mit.edu	37	1	176993800	176993800	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:176993800C>T	ENST00000367654.3	-	6	1400	c.1189G>A	c.(1189-1191)Ggc>Agc	p.G397S	ASTN1_ENST00000367657.3_Missense_Mutation_p.G397S|ASTN1_ENST00000361833.2_Missense_Mutation_p.G397S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.G397S	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	397					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)				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						CACACGAGGCCAATCACACAG	0.522																																							uc001glc.2		NA																	0				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1189-1191)GGC>AGC		astrotactin isoform 1							163.0	129.0	140.0					1																	176993800		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176993800C>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.1189G>A	1.37:g.176993800C>T	ENSP00000356626:p.Gly397Ser					ASTN1_uc001glb.1_Missense_Mutation_p.G397S|ASTN1_uc001gld.1_Missense_Mutation_p.G397S|ASTN1_uc009wwx.1_Missense_Mutation_p.G397S|ASTN1_uc001gle.3_RNA	p.G397S	NM_004319	NP_004310	O14525	ASTN1_HUMAN			6	1401	-			397			Helical; (Potential).		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1189G>A		.	.	.	.	.	.	.	.	.	.	C	16.51	3.142663	0.57044	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14391	2.51;2.92;2.93;2.51	5.03	5.03	0.67393	.	0.050308	0.85682	D	0.000000	T	0.10078	0.0247	L	0.27053	0.805	0.58432	D	0.99999	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12837	0.008;0.003;0.003	T	0.12451	-1.0547	10	0.35671	T	0.21	-30.9943	10.0694	0.42324	0.0:0.8704:0.0:0.1296	.	397;397;397	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	S	397	ENSP00000356629:G397S;ENSP00000354536:G397S;ENSP00000356626:G397S;ENSP00000395041:G397S	ENSP00000354536:G397S	G	-	1	0	ASTN1	175260423	0.997000	0.39634	0.976000	0.42696	0.984000	0.73092	3.501000	0.53325	2.340000	0.79590	0.655000	0.94253	GGC		0.522	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		6	28	0	0	0	0.001168	0	6	28				
RASAL2	9462	broad.mit.edu	37	1	178427213	178427213	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:178427213T>C	ENST00000462775.1	+	12	2488	c.2363T>C	c.(2362-2364)cTc>cCc	p.L788P	RASAL2_ENST00000367649.3_Missense_Mutation_p.L929P|RASAL2_ENST00000448150.3_Missense_Mutation_p.L918P	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	788					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GTCTATCACCTCAATAACCCA	0.522																																							uc001glr.2		NA																	0				ovary(2)|breast(2)|large_intestine(1)	5						c.(2362-2364)CTC>CCC		RAS protein activator like 2 isoform 1							97.0	99.0	98.0					1																	178427213		2203	4300	6503	SO:0001583	missense	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178427213T>C	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2363T>C	1.37:g.178427213T>C	ENSP00000420558:p.Leu788Pro					RASAL2_uc001glq.2_Missense_Mutation_p.L929P|RASAL2_uc009wxc.2_Missense_Mutation_p.L302P	p.L788P	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN			12	2488	+			788					F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	ENST00000462775.1	37	c.2363T>C	CCDS1322.1	.	.	.	.	.	.	.	.	.	.	T	18.40	3.616316	0.66672	.	.	ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775	T;T;T	0.19394	2.15;2.15;2.15	5.31	5.31	0.75309	.	0.076808	0.53938	D	0.000044	T	0.44159	0.1280	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.74674	0.984;0.981;0.982	T	0.41052	-0.9530	10	0.87932	D	0	.	15.2899	0.73857	0.0:0.0:0.0:1.0	.	918;788;929	B1AKC7;Q9UJF2;F8W755	.;NGAP_HUMAN;.	P	918;929;788	ENSP00000407768:L918P;ENSP00000356621:L929P;ENSP00000420558:L788P	ENSP00000356621:L929P	L	+	2	0	RASAL2	176693836	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.243000	0.78219	2.008000	0.58898	0.533000	0.62120	CTC		0.522	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		3	69	0	0	0	0.004672	0	3	69				
CACNA1E	777	broad.mit.edu	37	1	181620521	181620521	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:181620521C>T	ENST00000367573.2	+	7	999	c.999C>T	c.(997-999)ccC>ccT	p.P333P	CACNA1E_ENST00000367570.1_Silent_p.P333P|CACNA1E_ENST00000526775.1_Silent_p.P333P|CACNA1E_ENST00000357570.5_Silent_p.P284P|CACNA1E_ENST00000360108.3_Silent_p.P333P|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Silent_p.P284P	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	333					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACTTCATCCCCCTCATCATCA	0.433																																							uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(997-999)CCC>CCT		calcium channel, voltage-dependent, R type,							200.0	189.0	193.0					1																	181620521		1929	4140	6069	SO:0001819	synonymous_variant	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181620521C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.999C>T	1.37:g.181620521C>T						CACNA1E_uc009wxr.2_Silent_p.P240P|CACNA1E_uc009wxs.2_Silent_p.P240P	p.P333P	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			7	1164	+			333			I.|Helical; Name=S6 of repeat I.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	ENST00000367573.2	37	c.999C>T	CCDS55664.1																																																																																				0.433	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		10	66	0	0	0	0.008291	0	10	66				
CFH	3075	broad.mit.edu	37	1	196695642	196695642	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:196695642G>T	ENST00000367429.4	+	13	2156	c.1916G>T	c.(1915-1917)gGg>gTg	p.G639V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	639	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTCCTCAATGGGAATGTTAAG	0.318																																							uc001gtj.3		NA																	0				skin(4)|ovary(1)|breast(1)	6						c.(1915-1917)GGG>GTG		complement factor H isoform a precursor							79.0	84.0	82.0					1																	196695642		2203	4299	6502	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196695642G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1916G>T	1.37:g.196695642G>T	ENSP00000356399:p.Gly639Val						p.G639V	NM_000186	NP_000177	P08603	CFAH_HUMAN			13	2156	+			639			Sushi 11.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.1916G>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016602	0.35606	.	.	ENSG00000000971	ENST00000367429	D	0.82619	-1.63	5.59	4.67	0.58626	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.94964	0.8371	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96182	0.9131	9	0.87932	D	0	.	12.798	0.57569	0.0:0.0:0.8359:0.1641	.	639	P08603	CFAH_HUMAN	V	639	ENSP00000356399:G639V	ENSP00000356399:G639V	G	+	2	0	CFH	194962265	0.999000	0.42202	0.061000	0.19648	0.010000	0.07245	3.599000	0.54045	1.332000	0.45431	0.585000	0.79938	GGG		0.318	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		5	13	1	0	2.7689e-08	0.001984	4.2809e-08	5	13				
CAMSAP2	23271	broad.mit.edu	37	1	200818117	200818117	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:200818117G>T	ENST00000236925.4	+	12	2302	c.2253G>T	c.(2251-2253)cgG>cgT	p.R751R	CAMSAP2_ENST00000413307.2_Silent_p.R724R|CAMSAP2_ENST00000358823.2_Silent_p.R740R			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	751					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										CACAGGGACGGGACACTACCC	0.458																																							uc001gvl.2		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(2251-2253)CGG>CGT		calmodulin regulated spectrin-associated protein							75.0	83.0	80.0					1																	200818117		2203	4300	6503	SO:0001819	synonymous_variant	23271					cytoplasm|microtubule	protein binding	g.chr1:200818117G>T	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.2253G>T	1.37:g.200818117G>T						CAMSAP1L1_uc001gvk.2_Silent_p.R740R|CAMSAP1L1_uc001gvm.2_Silent_p.R724R	p.R751R	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			12	2523	+			751					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Silent	SNP	ENST00000236925.4	37	c.2253G>T																																																																																					0.458	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		7	40	1	0	0.000673444	0.008291	0.000786638	7	40				
CACNA1S	779	broad.mit.edu	37	1	201027603	201027603	+	Missense_Mutation	SNP	G	G	A	rs144935943		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:201027603G>A	ENST00000362061.3	-	28	3768	c.3542C>T	c.(3541-3543)cCc>cTc	p.P1181L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1181L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1181					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CACATTCCAGGGGTCTCCAAA	0.547																																							uc001gvv.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3541-3543)CCC>CTC		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	89.0	79.0	83.0		3542	4.1	1.0	1	dbSNP_134	83	0,8600		0,0,4300	no	missense	CACNA1S	NM_000069.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1181/1874	201027603	1,13005	2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201027603G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3542C>T	1.37:g.201027603G>A	ENSP00000355192:p.Pro1181Leu						p.P1181L	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			28	3769	-			1181			IV.|Helical; Name=S3 of repeat IV; (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.3542C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168833	0.57584	2.27E-4	0.0	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98567	-5.0;-5.0	4.05	4.05	0.47172	Ion transport (1);	0.056905	0.64402	N	0.000001	D	0.98362	0.9456	M	0.76433	2.335	0.80722	D	1	P	0.51791	0.948	P	0.56700	0.804	D	0.99208	1.0875	10	0.87932	D	0	.	15.4729	0.75453	0.0:0.0:1.0:0.0	.	1181	Q13698	CAC1S_HUMAN	L	1181	ENSP00000355192:P1181L;ENSP00000356307:P1181L	ENSP00000355192:P1181L	P	-	2	0	CACNA1S	199294226	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.627000	0.98412	2.228000	0.72767	0.555000	0.69702	CCC		0.547	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		6	22	0	0	0	0.001984	0	6	22				
KCTD3	51133	broad.mit.edu	37	1	215775296	215775296	+	Splice_Site	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:215775296G>C	ENST00000259154.4	+	11	1315	c.1021G>C	c.(1021-1023)Gat>Cat	p.D341H		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	341					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATATTACATAGGTAAGTGTTC	0.313																																							uc001hks.2		NA																	0				ovary(3)	3						c.(1021-1023)GAT>CAT		potassium channel tetramerisation domain							82.0	79.0	80.0					1																	215775296		2202	4296	6498	SO:0001630	splice_region_variant	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215775296G>C	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.1021+1G>C	1.37:g.215775296G>C						KCTD3_uc001hkt.2_Missense_Mutation_p.D341H|KCTD3_uc010pub.1_Missense_Mutation_p.D239H|KCTD3_uc009xdn.2_Missense_Mutation_p.D93H	p.D341H	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	11	1315	+			341			WD 3.		A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.1021G>C	CCDS1515.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864859	0.91511	.	.	ENSG00000136636	ENST00000259154	T	0.13901	2.55	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.46014	0.1371	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.996	T	0.50668	-0.8801	10	0.87932	D	0	-34.626	18.7799	0.91928	0.0:0.0:1.0:0.0	.	93;93;341;341	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	H	341	ENSP00000259154:D341H	ENSP00000259154:D341H	D	+	1	0	KCTD3	213841919	1.000000	0.71417	0.989000	0.46669	0.981000	0.71138	9.476000	0.97823	2.688000	0.91661	0.563000	0.77884	GAT		0.313	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121	Missense_Mutation	8	18	0	0	0	0.00308	0	8	18				
USH2A	7399	broad.mit.edu	37	1	216420207	216420207	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:216420207G>T	ENST00000307340.3	-	13	2915	c.2529C>A	c.(2527-2529)ctC>ctA	p.L843L	USH2A_ENST00000366943.2_Silent_p.L843L|USH2A_ENST00000366942.3_Silent_p.L843L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	843	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.L843L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGGCAGACAGAGGAAAGAAT	0.443										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - coding silent(1)		breast(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(2527-2529)CTC>CTA		usherin isoform B							182.0	174.0	177.0					1																	216420207		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216420207G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2529C>A	1.37:g.216420207G>T		HNSCC(13;0.011)				USH2A_uc001hkv.2_Silent_p.L843L	p.L843L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	13	2916	-			843			Extracellular (Potential).|Laminin EGF-like 6.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.2529C>A	CCDS31025.1																																																																																				0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		25	96	1	0	6.32553e-13	0.004656	1.14225e-12	25	96				
BPNT1	10380	broad.mit.edu	37	1	220232313	220232314	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:220232313_220232314CC>AA	ENST00000469520.2	-	10	1248_1249	c.799_800GG>TT	c.(799-801)GGg>TTg	p.G267L	BPNT1_ENST00000354807.3_Missense_Mutation_p.G282L|BPNT1_ENST00000322067.7_Missense_Mutation_p.G267L|BPNT1_ENST00000544404.1_Missense_Mutation_p.G212L|BPNT1_ENST00000414869.2_Missense_Mutation_p.G231L			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	267					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		AAGAACATTCCCATGGATATCG	0.391																																							uc001hma.2		NA																	0				ovary(1)	1						c.(799-801)GGG>TTG		3'(2'), 5'-bisphosphate nucleotidase 1																																				SO:0001583	missense	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220232313_220232314CC>AA	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.799_800delinsAA	1.37:g.220232313_220232314delinsAA	ENSP00000446828:p.Gly267Leu					BPNT1_uc010pug.1_Missense_Mutation_p.G212L|BPNT1_uc010puh.1_Missense_Mutation_p.G231L|BPNT1_uc001hmb.3_Missense_Mutation_p.G282L	p.G267L	NM_006085	NP_006076	O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	9	971_972	-			267					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Missense_Mutation	DNP	ENST00000469520.2	37	c.799_800GG>TT	CCDS41469.1																																																																																				0.391	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		6	72	0	0	0	0.004672	0	6	72				
MARC1	64757	broad.mit.edu	37	1	220986690	220986690	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:220986690G>T	ENST00000366910.5	+	7	1130	c.944G>T	c.(943-945)gGg>gTg	p.G315V	MARC1_ENST00000496110.1_3'UTR	NM_022746.3	NP_073583.3	Q5VT66	MARC1_HUMAN	mitochondrial amidoxime reducing component 1	315	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)										CCACTCTTTGGGCAGTATTTT	0.473																																							uc001hms.2		NA																	0					0						c.(943-945)GGG>GTG		MOCO sulphurase C-terminal domain containing 1							180.0	171.0	174.0					1																	220986690		2203	4300	6503	SO:0001583	missense	64757						molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220986690G>T	AK026043	CCDS1526.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000186205	ENSG00000186205			26189	protein-coding gene	gene with protein product		614126	"""MOCO sulphurase C-terminal domain containing 1"""	MOSC1		11886751	Standard	NM_022746		Approved	FLJ22390	uc001hms.3	Q5VT66	OTTHUMG00000037353	ENST00000366910.5:c.944G>T	1.37:g.220986690G>T	ENSP00000355877:p.Gly315Val					MOSC1_uc001hmt.2_Missense_Mutation_p.G332V	p.G315V	NM_022746	NP_073583	Q5VT66	MOSC1_HUMAN		GBM - Glioblastoma multiforme(131;0.0358)	7	1192	+			315			MOSC.		A8K447|B2D078|Q5VVS9|Q5VVT0|Q5VVT1|Q8N9P5|Q96FN8|Q9H6C7	Missense_Mutation	SNP	ENST00000366910.5	37	c.944G>T	CCDS1526.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.050793|4.050793	0.75960|0.75960	.|.	.|.	ENSG00000186205|ENSG00000186205	ENST00000366910|ENST00000407981	D|.	0.82984|.	-1.67|.	5.54|5.54	4.62|4.62	0.57501|0.57501	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);|.	0.000000|.	0.64402|.	D|.	0.000010|.	D|D	0.88526|0.88526	0.6460|0.6460	H|H	0.99011|0.99011	4.4|4.4	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.92116|0.92116	0.5700|0.5700	10|5	0.87932|.	D|.	0|.	-10.4427|-10.4427	12.5871|12.5871	0.56424|0.56424	0.0779:0.0:0.9221:0.0|0.0779:0.0:0.9221:0.0	.|.	332;315|.	Q5VT66-2;Q5VT66|.	.;MOSC1_HUMAN|.	V|C	315|240	ENSP00000355877:G315V|.	ENSP00000355877:G315V|.	G|W	+|+	2|3	0|0	MOSC1|MOSC1	219053313|219053313	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.997000|0.997000	0.91878|0.91878	5.093000|5.093000	0.64517|0.64517	1.482000|1.482000	0.48325|0.48325	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.473	MARC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090904.1	NM_022746		37	88	1	0	1.60099e-16	0.004878	3.04276e-16	37	88				
CDC42BPA	8476	broad.mit.edu	37	1	227300084	227300084	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:227300084T>C	ENST00000366769.3	-	14	3221	c.1930A>G	c.(1930-1932)Aaa>Gaa	p.K644E	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.K644E|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.K644E|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.K644E|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.K563E|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.K644E|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.K644E	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTCCTGTCTTTAGATGCTTCA	0.363																																							uc001hqr.2		NA																	0				lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(1930-1932)AAA>GAA		CDC42-binding protein kinase alpha isoform B							192.0	188.0	189.0					1																	227300084		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227300084T>C	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.1930A>G	1.37:g.227300084T>C	ENSP00000355731:p.Lys644Glu					CDC42BPA_uc001hqs.2_Missense_Mutation_p.K563E|CDC42BPA_uc009xes.2_Missense_Mutation_p.K644E|CDC42BPA_uc010pvs.1_Missense_Mutation_p.K644E	p.K644E	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			14	2873	-		all_cancers(173;0.156)|Prostate(94;0.0792)	644			Potential.			Missense_Mutation	SNP	ENST00000366769.3	37	c.1930A>G	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.491080	0.84962	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.67345	-0.17;-0.26;-0.2;-0.19;-0.19;-0.14;-0.2	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.79811	0.4510	M	0.67700	2.07	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.998;0.982	D;D;D;D	0.85130	0.994;0.982;0.997;0.918	T	0.78081	-0.2343	10	0.32370	T	0.25	.	15.853	0.78947	0.0:0.0:0.0:1.0	.	644;644;563;644	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	E	644;563;644;644;644;644;644	ENSP00000355731:K644E;ENSP00000355729:K563E;ENSP00000335341:K644E;ENSP00000355728:K644E;ENSP00000355726:K644E;ENSP00000443275:K644E;ENSP00000355727:K644E	ENSP00000335341:K644E	K	-	1	0	CDC42BPA	225366707	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.022000	0.88759	2.126000	0.65437	0.477000	0.44152	AAA		0.363	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		20	77	0	0	0	0.00333	0	20	77				
OBSCN	84033	broad.mit.edu	37	1	228431091	228431091	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:228431091A>G	ENST00000422127.1	+	10	3181	c.3137A>G	c.(3136-3138)aAg>aGg	p.K1046R	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.K1046R|OBSCN_ENST00000570156.2_Missense_Mutation_p.K1138R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1046	Ig-like 10.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGCAGGCAAGACAGATGCC	0.567																																							uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(3136-3138)AAG>AGG		obscurin, cytoskeletal calmodulin and							42.0	46.0	45.0					1																	228431091		2092	4210	6302	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228431091A>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3137A>G	1.37:g.228431091A>G	ENSP00000409493:p.Lys1046Arg					OBSCN_uc001hsn.2_Missense_Mutation_p.K1046R	p.K1046R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			10	3181	+		Prostate(94;0.0405)	1046			Ig-like 10.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3137A>G	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	3.367	-0.129146	0.06753	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.04654	3.58;3.58	5.11	-0.445	0.12242	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.097095	0.38897	U	0.001526	T	0.03915	0.0110	L	0.39326	1.205	0.34485	D	0.704367	B;P	0.41232	0.082;0.743	B;P	0.44359	0.055;0.447	T	0.46119	-0.9214	10	0.09843	T	0.71	.	3.4332	0.07436	0.5423:0.2615:0.0706:0.1257	.	1046;1046	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	R	1046	ENSP00000284548:K1046R;ENSP00000409493:K1046R	ENSP00000284548:K1046R	K	+	2	0	OBSCN	226497714	1.000000	0.71417	0.023000	0.16930	0.004000	0.04260	2.212000	0.42835	-0.029000	0.13827	-0.710000	0.03640	AAG		0.567	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	30	0	0	0	0.001168	0	6	30				
NID1	4811	broad.mit.edu	37	1	236201536	236201536	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:236201536C>A	ENST00000264187.6	-	5	1235	c.1153G>T	c.(1153-1155)Gat>Tat	p.D385Y	NID1_ENST00000366595.3_Missense_Mutation_p.D385Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	385					basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	TGGCGGGAATCCGTGTTATAG	0.552																																							uc001hxo.2		NA																	0				large_intestine(1)|pancreas(1)	2						c.(1153-1155)GAT>TAT		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						114.0	109.0	111.0					1																	236201536		2203	4300	6503	SO:0001583	missense	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236201536C>A	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.1153G>T	1.37:g.236201536C>A	ENSP00000264187:p.Asp385Tyr					NID1_uc009xgd.2_Missense_Mutation_p.D385Y	p.D385Y	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		5	1255	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	385					Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Missense_Mutation	SNP	ENST00000264187.6	37	c.1153G>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	C	8.632	0.893880	0.17613	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	D;D	0.87491	-2.26;-2.26	5.4	4.49	0.54785	.	0.161507	0.53938	D	0.000053	D	0.88024	0.6326	L	0.58101	1.795	0.36612	D	0.875245	B;B	0.32160	0.358;0.003	B;B	0.41135	0.348;0.008	D	0.89442	0.3724	10	0.51188	T	0.08	.	16.1478	0.81583	0.0:0.866:0.134:0.0	.	385;385	P14543-2;P14543	.;NID1_HUMAN	Y	385	ENSP00000264187:D385Y;ENSP00000355554:D385Y	ENSP00000264187:D385Y	D	-	1	0	NID1	234268159	0.989000	0.36119	0.382000	0.26119	0.647000	0.38526	5.361000	0.66092	1.271000	0.44313	0.650000	0.86243	GAT		0.552	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		15	71	1	0	3.52763e-06	0.00499	4.88332e-06	15	71				
ACTN2	88	broad.mit.edu	37	1	236924451	236924451	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:236924451T>C	ENST00000366578.4	+	20	2670	c.2504T>C	c.(2503-2505)tTc>tCc	p.F835S	ACTN2_ENST00000546208.1_Missense_Mutation_p.F329S|ACTN2_ENST00000542672.1_Missense_Mutation_p.F835S	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	835					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATCGCCTCCTTCCGGATCCTG	0.507																																							uc001hyf.2		NA																	0				ovary(4)|skin(1)	5						c.(2503-2505)TTC>TCC		actinin, alpha 2							88.0	84.0	85.0					1																	236924451		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236924451T>C	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2504T>C	1.37:g.236924451T>C	ENSP00000355537:p.Phe835Ser					ACTN2_uc001hyg.2_Missense_Mutation_p.F627S|ACTN2_uc009xgi.1_Missense_Mutation_p.F835S|ACTN2_uc010pxu.1_Missense_Mutation_p.F524S|ACTN2_uc001hyh.2_Missense_Mutation_p.F523S	p.F835S	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		20	2708	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	835					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.2504T>C	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.046969	0.93740	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.80214	-1.35;-1.35;-1.35	5.88	5.88	0.94601	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.93112	0.7807	H	0.96175	3.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.992	D;D;D;D	0.97110	1.0;1.0;1.0;0.994	D	0.95116	0.8242	10	0.87932	D	0	.	16.3015	0.82820	0.0:0.0:0.0:1.0	.	620;835;605;835	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	S	835;835;329;604	ENSP00000443495:F835S;ENSP00000355537:F835S;ENSP00000438384:F329S	ENSP00000355537:F835S	F	+	2	0	ACTN2	234991074	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.013000	0.88655	2.239000	0.73571	0.533000	0.62120	TTC		0.507	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		9	47	0	0	0	0.008291	0	9	47				
RYR2	6262	broad.mit.edu	37	1	237777909	237777909	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:237777909C>A	ENST00000366574.2	+	37	5798	c.5481C>A	c.(5479-5481)acC>acA	p.T1827T	RYR2_ENST00000360064.6_Silent_p.T1825T|RYR2_ENST00000542537.1_Silent_p.T1811T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1827	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTTTCTATACCCTGCTGATCA	0.493																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5479-5481)ACC>ACA		cardiac muscle ryanodine receptor							157.0	147.0	150.0					1																	237777909		1936	4157	6093	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777909C>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.5481C>A	1.37:g.237777909C>A							p.T1827T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5601	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1827			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.5481C>A	CCDS55691.1																																																																																				0.493	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		19	104	1	0	2.4624e-09	0.008871	3.88562e-09	19	104				
RYR2	6262	broad.mit.edu	37	1	237995900	237995900	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:237995900C>A	ENST00000366574.2	+	105	15174	c.14857C>A	c.(14857-14859)Cca>Aca	p.P4953T	RYR2_ENST00000360064.6_Missense_Mutation_p.P4959T|RYR2_ENST00000542537.1_Missense_Mutation_p.P4937T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4953					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAATTTTTCCCAGCAGGGGA	0.418																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(14857-14859)CCA>ACA		cardiac muscle ryanodine receptor							87.0	84.0	85.0					1																	237995900		1851	4124	5975	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.chr1:237995900C>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.14857C>A	1.37:g.237995900C>A	ENSP00000355533:p.Pro4953Thr					RYR2_uc010pyb.1_3'UTR	p.P4953T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		105	14977	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4953					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.14857C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361145	0.82353	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.99722	-6.53;-6.53;-6.52	5.16	5.16	0.70880	.	0.000000	0.56097	D	0.000023	D	0.99832	0.9924	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96887	0.9650	10	0.87932	D	0	-9.2557	18.8364	0.92164	0.0:1.0:0.0:0.0	.	4953	Q92736	RYR2_HUMAN	T	4953;4959;4937	ENSP00000355533:P4953T;ENSP00000353174:P4959T;ENSP00000443798:P4937T	ENSP00000353174:P4959T	P	+	1	0	RYR2	236062523	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.278000	0.78587	2.677000	0.91161	0.655000	0.94253	CCA		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	27	1	0	0.00198382	0.001984	0.00225226	7	27				
OR2W5	441932	broad.mit.edu	37	1	247655350	247655350	+	RNA	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:247655350G>C	ENST00000522351.1	+	0	981							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTTCTGGGGTGGGAGAAAGGG	0.502																																							uc001icz.1		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(919-921)GTG>GTC		olfactory receptor, family 2, subfamily W,							61.0	64.0	63.0					1																	247655350		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655350G>C			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655350G>C							p.V307V	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	921	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	307					B9EH85	Silent	SNP	ENST00000522351.1	37	c.921G>C																																																																																					0.502	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		10	57	0	0	0	0.006214	0	10	57				
OR2L2	26246	broad.mit.edu	37	1	248202461	248202461	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:248202461G>T	ENST00000366479.2	+	1	988	c.892G>T	c.(892-894)Ggg>Tgg	p.G298W	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGAGGTGATGGGGGCCCTGAC	0.458																																							uc001idw.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(892-894)GGG>TGG		olfactory receptor, family 2, subfamily L,							75.0	74.0	74.0					1																	248202461		2203	4300	6503	SO:0001583	missense	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202461G>T	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.892G>T	1.37:g.248202461G>T	ENSP00000355435:p.Gly298Trp					OR2L13_uc001ids.2_Intron	p.G298W	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	988	+	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)		298			Cytoplasmic (Potential).		Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	c.892G>T	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	9.661	1.144170	0.21205	.	.	ENSG00000203663	ENST00000366479	T	0.38077	1.16	1.9	0.883	0.19177	.	.	.	.	.	T	0.48040	0.1478	M	0.66560	2.04	0.09310	N	1	D	0.58970	0.984	D	0.63381	0.914	T	0.30592	-0.9973	9	0.87932	D	0	.	3.2996	0.06978	0.187:0.2751:0.5379:0.0	.	298	Q8NH16	OR2L2_HUMAN	W	298	ENSP00000355435:G298W	ENSP00000355435:G298W	G	+	1	0	OR2L2	246269084	0.000000	0.05858	0.804000	0.32291	0.568000	0.35870	-0.362000	0.07602	0.897000	0.36392	0.194000	0.17425	GGG		0.458	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		12	69	1	0	5.16669e-11	0.010729	8.86454e-11	12	69				
OR2T12	127064	broad.mit.edu	37	1	248458764	248458764	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:248458764G>T	ENST00000317996.1	-	1	116	c.117C>A	c.(115-117)agC>agA	p.S39R		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			TGAGGGCATTGCTAAACAGGG	0.512																																							uc010pzj.1		NA																	0				skin(2)|ovary(1)	3						c.(115-117)AGC>AGA		olfactory receptor, family 2, subfamily T,							108.0	99.0	102.0					1																	248458764		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458764G>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.117C>A	1.37:g.248458764G>T	ENSP00000324583:p.Ser39Arg						p.S39R	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	117	-	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)		39			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.117C>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	g	7.959	0.746525	0.15710	.	.	ENSG00000177201	ENST00000317996	T	0.00449	7.37	1.55	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	0.435769	0.16800	U	0.199012	T	0.00210	0.0006	N	0.19112	0.55	0.09310	N	1	B	0.20164	0.042	B	0.26969	0.075	T	0.41645	-0.9497	10	0.72032	D	0.01	.	5.857	0.18724	0.0:0.1498:0.4147:0.4355	.	39	Q8NG77	O2T12_HUMAN	R	39	ENSP00000324583:S39R	ENSP00000324583:S39R	S	-	3	2	OR2T12	246525387	0.000000	0.05858	0.024000	0.17045	0.196000	0.23810	-6.442000	0.00066	-0.328000	0.08539	0.175000	0.17021	AGC		0.512	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		17	73	1	0	2.35188e-11	0.006122	4.0861e-11	17	73				
OR2T4	127074	broad.mit.edu	37	1	248525220	248525220	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:248525220T>G	ENST00000366475.1	+	1	338	c.338T>G	c.(337-339)aTg>aGg	p.M113R		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)			GTGCCCAAGATGCTCCTGGAC	0.488																																							uc001ieh.1		NA																	0				central_nervous_system(1)	1						c.(337-339)ATG>AGG		olfactory receptor, family 2, subfamily T,							259.0	196.0	217.0					1																	248525220		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525220T>G	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.338T>G	1.37:g.248525220T>G	ENSP00000355431:p.Met113Arg						p.M113R	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	338	+	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)		113			Extracellular (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.338T>G	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.138682	0.37728	.	.	ENSG00000196944	ENST00000366475	T	0.06068	3.35	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.108384	0.41294	D	0.000908	T	0.25606	0.0623	H	0.95328	3.655	0.30666	N	0.753849	D	0.56968	0.978	P	0.57502	0.822	T	0.37174	-0.9717	10	0.87932	D	0	.	6.1801	0.20465	0.0:0.1807:0.0:0.8193	.	113	Q8NH00	OR2T4_HUMAN	R	113	ENSP00000355431:M113R	ENSP00000355431:M113R	M	+	2	0	OR2T4	246591843	0.537000	0.26386	0.948000	0.38648	0.354000	0.29330	2.897000	0.48664	1.205000	0.43262	0.397000	0.26171	ATG		0.488	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		6	234	0	0	0	0.00308	0	6	234				
PFKFB3	5209	broad.mit.edu	37	10	6264857	6264857	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:6264857A>C	ENST00000379775.4	+	11	1453	c.1123A>C	c.(1123-1125)Atg>Ctg	p.M375L	PFKFB3_ENST00000540253.1_Missense_Mutation_p.M389L|PFKFB3_ENST00000536985.1_Intron|PFKFB3_ENST00000379785.1_Missense_Mutation_p.M375L|PFKFB3_ENST00000379782.3_Missense_Mutation_p.M375L|PFKFB3_ENST00000317350.4_Missense_Mutation_p.M375L|PFKFB3_ENST00000360521.2_Missense_Mutation_p.M375L|PFKFB3_ENST00000379789.4_Missense_Mutation_p.M355L	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	375	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GCCAGTGATCATGGAGCTGGA	0.652																																							uc001ije.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1123-1125)ATG>CTG		6-phosphofructo-2-kinase/fructose-2,							58.0	44.0	49.0					10																	6264857		2203	4300	6503	SO:0001583	missense	5209				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chr10:6264857A>C		CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.1123A>C	10.37:g.6264857A>C	ENSP00000369100:p.Met375Leu					PFKFB3_uc001ijd.2_Missense_Mutation_p.M355L|PFKFB3_uc009xii.2_Intron|PFKFB3_uc010qaw.1_Missense_Mutation_p.M389L|PFKFB3_uc001ijf.2_Missense_Mutation_p.M375L|PFKFB3_uc001ijg.2_5'Flank|PFKFB3_uc009xij.2_5'Flank|PFKFB3_uc009xik.2_5'Flank|PFKFB3_uc009xil.2_5'Flank	p.M375L	NM_004566	NP_004557	Q16875	F263_HUMAN			11	1507	+			375			Fructose-2,6-bisphosphatase.		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	ENST00000379775.4	37	c.1123A>C	CCDS7078.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.7|25.7	4.667158|4.667158	0.88251|0.88251	.|.	.|.	ENSG00000170525|ENSG00000170525	ENST00000450232|ENST00000379789;ENST00000379784;ENST00000540253;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499	.|T;T;T;T;T;T;T	.|0.71461	.|-0.57;-0.57;-0.57;-0.57;-0.57;-0.57;-0.57	5.0|5.0	5.0|5.0	0.66597|0.66597	.|Histidine phosphatase superfamily, clade-1 (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81312|0.81312	0.4796|0.4796	L|L	0.60845|0.60845	1.875|1.875	0.80722|0.80722	D|D	1|1	.|D;P;P;P	.|0.65815	.|0.995;0.609;0.607;0.938	.|D;B;B;D	.|0.83275	.|0.996;0.309;0.411;0.938	T|T	0.82812|0.82812	-0.0272|-0.0272	5|10	.|0.59425	.|D	.|0.04	-4.301|-4.301	14.7038|14.7038	0.69174|0.69174	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|389;375;375;355	.|B7Z955;Q16875-2;Q16875;Q5VX15	.|.;.;F263_HUMAN;.	P|L	55|355;101;389;375;375;375;375;375;375	.|ENSP00000369115:M355L;ENSP00000446384:M389L;ENSP00000369105:M375L;ENSP00000369111:M375L;ENSP00000369108:M375L;ENSP00000353712:M375L;ENSP00000369100:M375L	.|ENSP00000369105:M375L	H|M	+|+	2|1	0|0	PFKFB3|PFKFB3	6304863|6304863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	8.963000|8.963000	0.93385|0.93385	1.880000|1.880000	0.54463|0.54463	0.379000|0.379000	0.24179|0.24179	CAT|ATG		0.652	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046647.1			3	18	0	0	0	0.009096	0	3	18				
PTF1A	256297	broad.mit.edu	37	10	23482733	23482733	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:23482733C>A	ENST00000376504.3	+	2	1089	c.885C>A	c.(883-885)atC>atA	p.I295I		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	295					amacrine cell differentiation (GO:0035881)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|endocrine pancreas development (GO:0031018)|exocrine pancreas development (GO:0031017)|neuron fate commitment (GO:0048663)|pancreas development (GO:0031016)|regulation of neural retina development (GO:0061074)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|retinoic acid receptor signaling pathway (GO:0048384)|tissue development (GO:0009888)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|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)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						AAAATATTATCCGAACAGCCA	0.488																																							uc001irp.2		NA																	0				pancreas(1)|skin(1)	2						c.(883-885)ATC>ATA		pancreas specific transcription factor, 1a							134.0	152.0	146.0					10																	23482733		2203	4300	6503	SO:0001819	synonymous_variant	256297				endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex		g.chr10:23482733C>A	BK000272	CCDS7143.1	10p12.31	2013-05-21			ENSG00000168267	ENSG00000168267		"""Basic helix-loop-helix proteins"""	23734	protein-coding gene	gene with protein product		607194				8703005	Standard	NM_178161		Approved	PTF1-p48, bHLHa29	uc001irp.3	Q7RTS3	OTTHUMG00000017815	ENST00000376504.3:c.885C>A	10.37:g.23482733C>A							p.I295I	NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN			2	885	+			295					Q9HC25	Silent	SNP	ENST00000376504.3	37	c.885C>A	CCDS7143.1																																																																																				0.488	PTF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047210.1	NM_178161		24	130	1	0	1.66031e-10	0.003954	2.78607e-10	24	130				
SVIL	6840	broad.mit.edu	37	10	29840143	29840143	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:29840143T>A	ENST00000355867.4	-	6	962	c.210A>T	c.(208-210)caA>caT	p.Q70H	SVIL_ENST00000375400.3_Missense_Mutation_p.Q70H|SVIL_ENST00000375398.2_Missense_Mutation_p.Q70H	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	70	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGGATCGAGTTTGCTTTTCTA	0.473																																							uc001iut.1		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(208-210)CAA>CAT		supervillin isoform 2							75.0	63.0	67.0					10																	29840143		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29840143T>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.210A>T	10.37:g.29840143T>A	ENSP00000348128:p.Gln70His					SVIL_uc001iuu.1_Missense_Mutation_p.Q70H|SVIL_uc009xld.1_Missense_Mutation_p.Q70H	p.Q70H	NM_021738	NP_068506	O95425	SVIL_HUMAN			6	963	-		Breast(68;0.103)	70			Interaction with MYLK (By similarity).		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.210A>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.335051	0.60853	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.42900	0.96;0.96;0.96	5.41	-2.3	0.06785	.	0.475875	0.25068	N	0.033391	T	0.24890	0.0604	L	0.46157	1.445	0.53005	D	0.999966	B;B	0.28026	0.001;0.198	B;B	0.24541	0.004;0.054	T	0.03193	-1.1062	9	.	.	.	-8.6743	3.23	0.06745	0.0989:0.3983:0.199:0.3038	.	70;70	O95425-2;O95425	.;SVIL_HUMAN	H	70	ENSP00000364549:Q70H;ENSP00000364547:Q70H;ENSP00000348128:Q70H	.	Q	-	3	2	SVIL	29880149	0.423000	0.25482	0.639000	0.29394	0.809000	0.45718	-0.420000	0.07062	-0.148000	0.11234	0.482000	0.46254	CAA		0.473	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			10	42	0	0	0	0.008291	0	10	42				
AGAP12P	414224	broad.mit.edu	37	10	49218363	49218363	+	IGR	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:49218363G>T								FAM25C (10545 upstream) : RNA5SP315 (30112 downstream)																							CCTTGCGGCAGGCCAGATGGA	0.652																																							uc001jgd.2		NA																	0					NA						c.(1774-1776)GCC>GCA		RecName: Full=Arf-GAP, GTPase, ANK repeat and PH domain-containing protein 11; AltName: Full=Centaurin-gamma-like protein KIAA1975;																																				SO:0001628	intergenic_variant	0							g.chr10:49218363G>T																													10.37:g.49218363G>T						uc001jge.1_5'Flank	p.A592A							8	1935	-									Silent	SNP		37	c.1776C>A																																																																																				0	0.652									10	179	1	0	2.27111e-07	0.013537	3.35306e-07	10	179				
OGDHL	55753	broad.mit.edu	37	10	50946118	50946118	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:50946118C>A	ENST00000374103.4	-	19	2477	c.2392G>T	c.(2392-2394)Gca>Tca	p.A798S	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Splice_Site_p.A589S|OGDHL_ENST00000419399.1_Splice_Site_p.A741S	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	798					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TTGGTGAATGCCTGTGGGGAC	0.622																																							uc001jie.2		NA																	0				pancreas(1)	1						c.(2392-2394)GCA>TCA		oxoglutarate dehydrogenase-like isoform a							188.0	170.0	176.0					10																	50946118		2203	4300	6503	SO:0001630	splice_region_variant	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50946118C>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2392-1G>T	10.37:g.50946118C>A						OGDHL_uc009xog.2_Missense_Mutation_p.A825S|OGDHL_uc010qgt.1_Missense_Mutation_p.A741S|OGDHL_uc010qgu.1_Missense_Mutation_p.A589S	p.A798S	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			19	2534	-			798					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.2392G>T	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	2.182	-0.387375	0.04932	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	T;T;T	0.05319	3.46;3.46;3.46	4.6	2.75	0.32379	Transketolase-like, pyrimidine-binding domain (2);	0.394275	0.26601	N	0.023464	T	0.03305	0.0096	N	0.05351	-0.065	0.26749	N	0.97023	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.002;0.003;0.005	T	0.43376	-0.9395	10	0.23891	T	0.37	.	9.4154	0.38519	0.0:0.8275:0.0:0.1725	.	741;589;798	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	S	798;741;589	ENSP00000363216:A798S;ENSP00000401356:A741S;ENSP00000390240:A589S	ENSP00000363216:A798S	A	-	1	0	OGDHL	50616124	1.000000	0.71417	0.596000	0.28811	0.488000	0.33401	1.563000	0.36364	0.388000	0.25054	0.650000	0.86243	GCA		0.622	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245	Missense_Mutation	10	79	1	0	0.000442599	0.006214	0.000527744	10	79				
PCDH15	65217	broad.mit.edu	37	10	55581994	55581994	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:55581994G>A	ENST00000320301.6	-	33	5886	c.5492C>T	c.(5491-5493)cCt>cTt	p.P1831L	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1791L|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1762L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1833L|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1808L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1828L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1831	Poly-Pro.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAAGCTgaaggaggtggagg	0.488										HNSCC(58;0.16)																													uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(5491-5493)CCT>CTT		protocadherin 15 isoform CD1-4 precursor							122.0	111.0	115.0					10																	55581994		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55581994G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.5492C>T	10.37:g.55581994G>A	ENSP00000322604:p.Pro1831Leu	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1828L|PCDH15_uc010qhw.1_Missense_Mutation_p.P1791L|PCDH15_uc010qhx.1_Missense_Mutation_p.P1762L|PCDH15_uc010qhy.1_Missense_Mutation_p.P1838L|PCDH15_uc010qhz.1_Missense_Mutation_p.P1833L|PCDH15_uc010qia.1_Missense_Mutation_p.P1811L|PCDH15_uc010qib.1_Missense_Mutation_p.P1808L	p.P1831L	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	5887	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1831			Poly-Pro.|Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.5492C>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.541516	0.65085	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.54866	0.57;0.55;0.59;0.57;0.57;0.55	4.48	4.48	0.54585	.	.	.	.	.	T	0.35885	0.0947	N	0.14661	0.345	0.48830	D	0.999715	B;B;B;B;B;B;B;B	0.28713	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	B;B;B;B;B;B;B;B	0.26864	0.074;0.074;0.074;0.074;0.074;0.074;0.074;0.074	T	0.34329	-0.9833	9	0.62326	D	0.03	.	12.5742	0.56355	0.0:0.0:0.8328:0.1672	.	1808;1831;1833;1838;1762;1791;1828;1831	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	L	1791;1833;1808;1831;1828;1838;1762	ENSP00000378820:P1791L;ENSP00000354950:P1833L;ENSP00000378821:P1808L;ENSP00000322604:P1831L;ENSP00000378818:P1828L;ENSP00000412628:P1762L	ENSP00000322604:P1831L	P	-	2	0	PCDH15	55252000	0.966000	0.33281	0.546000	0.28166	0.729000	0.41735	1.983000	0.40648	2.447000	0.82792	0.591000	0.81541	CCT		0.488	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		4	41	0	0	0	0.009096	0	4	41				
RGR	5995	broad.mit.edu	37	10	86004867	86004867	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:86004867G>T	ENST00000359452.4	+	1	59	c.21G>T	c.(19-21)ctG>ctT	p.L7L	RGR_ENST00000358110.5_Silent_p.L7L|RGR_ENST00000372092.3_Silent_p.L7L	NM_001012720.1|NM_002921.3	NP_001012738.1|NP_002912.2	P47804	RGR_HUMAN	retinal G protein coupled receptor	7					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CCAGTGCCCTGCCCACTGGCT	0.657																																					NSCLC(15;204 545 5889 6385 32445)	NSCLC(15;204 545 5889 6385 32445)	uc001kdc.1		NA																	0				ovary(1)	1						c.(19-21)CTG>CTT		retinal G-protein coupled receptor isoform 2							107.0	93.0	98.0					10																	86004867		2203	4300	6503	SO:0001819	synonymous_variant	5995				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	g.chr10:86004867G>T	BC011349	CCDS7374.1, CCDS41543.1	10q23	2013-02-14			ENSG00000148604	ENSG00000148604		"""GPCR / Class A : Opsin receptors"""	9990	protein-coding gene	gene with protein product	"""RGR-opsin"""	600342				8641686	Standard	NM_002921		Approved	RP44	uc001kdd.1	P47804	OTTHUMG00000018636	ENST00000359452.4:c.21G>T	10.37:g.86004867G>T						RGR_uc001kdb.1_Silent_p.L7L|RGR_uc001kdd.1_Silent_p.L7L|RGR_uc001kde.1_Silent_p.L7L	p.L7L	NM_001012720	NP_001012738	P47804	RGR_HUMAN			1	59	+			7			Extracellular (Potential).		A6NKK7|Q96FC5	Silent	SNP	ENST00000359452.4	37	c.21G>T	CCDS7374.1																																																																																				0.657	RGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049116.1	NM_002921		5	33	1	0	1.6384e-10	0.001984	2.76279e-10	5	33				
WAPAL	23063	broad.mit.edu	37	10	88203071	88203071	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:88203071G>T	ENST00000298767.5	-	17	3844	c.3372C>A	c.(3370-3372)taC>taA	p.Y1124*	WAPAL_ENST00000372075.1_Nonsense_Mutation_p.Y336*|WAPAL_ENST00000484070.1_5'UTR|WAPAL_ENST00000263070.7_Nonsense_Mutation_p.Y336*	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1124	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GTAGTGCTGTGTAGGAGGCCA	0.403																																							uc001kdo.2		NA																	0				ovary(1)	1						c.(3370-3372)TAC>TAA		wings apart-like homolog							132.0	118.0	123.0					10																	88203071		2203	4300	6503	SO:0001587	stop_gained	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88203071G>T	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.3372C>A	10.37:g.88203071G>T	ENSP00000298767:p.Tyr1124*					WAPAL_uc009xsv.2_Nonsense_Mutation_p.Y383*|WAPAL_uc001kdn.2_Nonsense_Mutation_p.Y1161*|WAPAL_uc009xsw.2_Nonsense_Mutation_p.Y1118*	p.Y1124*	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN			17	3814	-			1124			WAPL.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Nonsense_Mutation	SNP	ENST00000298767.5	37	c.3372C>A	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	G	46	12.093964	0.99635	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076;ENST00000372075;ENST00000263070	.	.	.	5.52	2.3	0.28687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.8816	0.35378	0.3534:0.0:0.6466:0.0	.	.	.	.	X	1209;1124;1209;336;336	.	ENSP00000263070:Y336X	Y	-	3	2	WAPAL	88193051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.336000	0.33850	0.710000	0.31997	0.650000	0.86243	TAC		0.403	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		5	28	1	0	5.9392e-07	0.001168	8.56639e-07	5	28				
SEC31B	25956	broad.mit.edu	37	10	102256062	102256062	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:102256062C>A	ENST00000370345.3	-	18	2360	c.2263G>T	c.(2263-2265)Ggc>Tgc	p.G755C	SEC31B_ENST00000494350.1_5'Flank	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	755					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GCCAGGCTGCCCTGGGCTGCC	0.572																																							uc001krc.1		NA																	0				ovary(1)	1						c.(2263-2265)GGC>TGC		SEC31 homolog B							87.0	77.0	80.0					10																	102256062		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102256062C>A	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.2263G>T	10.37:g.102256062C>A	ENSP00000359370:p.Gly755Cys					SEC31B_uc010qpo.1_Missense_Mutation_p.G754C|SEC31B_uc001krd.1_Missense_Mutation_p.G292C|SEC31B_uc001krf.1_Missense_Mutation_p.G292C|SEC31B_uc001kre.1_Missense_Mutation_p.G292C|SEC31B_uc001krg.1_Missense_Mutation_p.G324C	p.G755C	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	18	2365	-		Colorectal(252;0.117)	755					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.2263G>T	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682258	0.88542	.	.	ENSG00000075826	ENST00000370345	T	0.77098	-1.07	5.9	5.0	0.66597	.	0.044313	0.85682	D	0.000000	D	0.90618	0.7058	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92794	0.6251	10	0.87932	D	0	-12.303	13.9016	0.63806	0.0:0.9277:0.0:0.0723	.	754;755	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	C	755	ENSP00000359370:G755C	ENSP00000359370:G755C	G	-	1	0	SEC31B	102246052	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.040000	0.70980	1.509000	0.48786	0.455000	0.32223	GGC		0.572	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		5	45	1	0	1.23904e-05	0.000602	1.67149e-05	5	45				
PAX2	5076	broad.mit.edu	37	10	102539287	102539287	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:102539287A>T	ENST00000428433.1	+	4	993	c.443A>T	c.(442-444)cAc>cTc	p.H148L	PAX2_ENST00000355243.3_Missense_Mutation_p.H148L|PAX2_ENST00000361791.3_Missense_Mutation_p.H148L|PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000370296.2_Missense_Mutation_p.H148L|PAX2_ENST00000556085.1_Missense_Mutation_p.H147L	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	148					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|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 cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|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)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|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 metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|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)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CAGCCTTTCCACCCAACGCCG	0.582																																							uc001krk.3		NA																	0					0						c.(442-444)CAC>CTC		paired box protein 2 isoform e							100.0	75.0	84.0					10																	102539287		2202	4298	6500	SO:0001583	missense	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102539287A>T		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.443A>T	10.37:g.102539287A>T	ENSP00000396259:p.His148Leu					PAX2_uc001krl.3_Missense_Mutation_p.H148L|PAX2_uc001krm.3_Missense_Mutation_p.H148L|PAX2_uc001kro.3_Missense_Mutation_p.H148L|PAX2_uc001krn.3_Missense_Mutation_p.H148L|PAX2_uc010qps.1_Missense_Mutation_p.H147L|PAX2_uc001krp.1_Missense_Mutation_p.H152L	p.H148L	NM_003990	NP_003981	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	4	993	+		Colorectal(252;0.234)	148					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Missense_Mutation	SNP	ENST00000428433.1	37	c.443A>T	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.942104	0.73557	.	.	ENSG00000075891	ENST00000370294;ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000556085;ENST00000427256;ENST00000554172	D;D;D;D;D;D;D	0.97791	-3.97;-4.07;-4.09;-4.06;-4.06;-4.4;-4.54	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.96710	0.8926	M	0.68317	2.08	0.80722	D	1	B;B;B;B;B;B;B	0.34264	0.294;0.021;0.294;0.0;0.446;0.202;0.141	B;B;B;B;B;B;B	0.38755	0.209;0.037;0.209;0.004;0.15;0.281;0.197	D	0.96516	0.9382	10	0.46703	T	0.11	.	13.7436	0.62862	1.0:0.0:0.0:0.0	.	147;148;148;152;148;148;152	G3V5U4;Q02962-2;Q02962-3;Q6YFJ8;Q02962;Q02962-4;G3V5S4	.;.;.;.;PAX2_HUMAN;.;.	L	40;148;148;148;148;147;148;152	ENSP00000359319:H148L;ENSP00000396259:H148L;ENSP00000355069:H148L;ENSP00000347385:H148L;ENSP00000452527:H147L;ENSP00000398652:H148L;ENSP00000452489:H152L	ENSP00000347385:H148L	H	+	2	0	PAX2	102529277	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.468000	0.90393	2.021000	0.59480	0.459000	0.35465	CAC		0.582	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				5	7	0	0	0	0.001168	0	5	7				
PAX2	5076	broad.mit.edu	37	10	102584444	102584444	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:102584444C>T	ENST00000428433.1	+	9	1578	c.1028C>T	c.(1027-1029)cCt>cTt	p.P343L	PAX2_ENST00000355243.3_Missense_Mutation_p.P320L|PAX2_ENST00000361791.3_Missense_Mutation_p.P320L|PAX2_ENST00000370296.2_Missense_Mutation_p.P343L|PAX2_ENST00000556085.1_Missense_Mutation_p.P319L	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	343					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|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 cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|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)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|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 metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|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)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGTTACCCCCCTCACGTGCCC	0.612																																							uc001krk.3		NA																	0					0						c.(1027-1029)CCT>CTT		paired box protein 2 isoform e							104.0	100.0	101.0					10																	102584444		2203	4300	6503	SO:0001583	missense	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102584444C>T		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.1028C>T	10.37:g.102584444C>T	ENSP00000396259:p.Pro343Leu					PAX2_uc001krl.3_Missense_Mutation_p.P320L|PAX2_uc001krm.3_Missense_Mutation_p.P343L|PAX2_uc001kro.3_Missense_Mutation_p.P320L|PAX2_uc001krn.3_Missense_Mutation_p.P320L|PAX2_uc010qps.1_Missense_Mutation_p.P319L|PAX2_uc001krp.1_Missense_Mutation_p.P316L	p.P343L	NM_003990	NP_003981	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	9	1578	+		Colorectal(252;0.234)	343					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Missense_Mutation	SNP	ENST00000428433.1	37	c.1028C>T	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519026	0.85495	.	.	ENSG00000075891	ENST00000370294;ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000556085	T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.74374	0.3708	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.998;1.0;0.998	T	0.79909	-0.1604	10	0.72032	D	0.01	.	16.0417	0.80687	0.0:1.0:0.0:0.0	.	319;343;320;343;320	G3V5U4;Q02962-2;Q02962-3;Q02962;Q02962-4	.;.;.;PAX2_HUMAN;.	L	235;343;343;320;320;319	ENSP00000359319:P343L;ENSP00000396259:P343L;ENSP00000355069:P320L;ENSP00000347385:P320L;ENSP00000452527:P319L	ENSP00000347385:P320L	P	+	2	0	PAX2	102574434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.085000	0.62840	0.561000	0.74099	CCT		0.612	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				18	64	0	0	0	0.008871	0	18	64				
PPRC1	23082	broad.mit.edu	37	10	103906707	103906707	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:103906707C>T	ENST00000278070.2	+	9	3997	c.3958C>T	c.(3958-3960)Cga>Tga	p.R1320*	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Nonsense_Mutation_p.R287*|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1320					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGTGGGCTCCCGATGGAATGT	0.602																																							uc001kum.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3958-3960)CGA>TGA		peroxisome proliferator-activated receptor							59.0	58.0	59.0					10																	103906707		2203	4300	6503	SO:0001587	stop_gained	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103906707C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3958C>T	10.37:g.103906707C>T	ENSP00000278070:p.Arg1320*					PPRC1_uc001kun.2_Nonsense_Mutation_p.R1200*|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron	p.R1320*	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	3997	+		Colorectal(252;0.122)	1320					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Nonsense_Mutation	SNP	ENST00000278070.2	37	c.3958C>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	42	9.507078	0.99190	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	.	.	.	5.65	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4264	0.67218	0.0:0.9293:0.0:0.0707	.	.	.	.	X	1320;287	.	ENSP00000278070:R1320X	R	+	1	2	PPRC1	103896697	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.590000	0.67530	1.396000	0.46663	0.462000	0.41574	CGA		0.602	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		5	30	0	0	0	0.001168	0	5	30				
CFAP58	159686	broad.mit.edu	37	10	106128258	106128258	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:106128258G>T	ENST00000369704.3	+	6	1004	c.870G>T	c.(868-870)caG>caT	p.Q290H	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		290						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGAATGAACAGCACAGTTTGG	0.438																																							uc001kyh.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(868-870)CAG>CAT		coiled-coil domain containing 147							119.0	106.0	110.0					10																	106128258		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106128258G>T																												ENST00000369704.3:c.870G>T	10.37:g.106128258G>T	ENSP00000358718:p.Gln290His						p.Q290H	NM_001008723	NP_001008723	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	6	1004	+		Colorectal(252;0.103)|Breast(234;0.122)	290			Potential.		D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.870G>T	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318374	0.23994	.	.	ENSG00000120051	ENST00000369704	T	0.33654	1.4	6.17	-2.92	0.05615	.	0.047585	0.85682	D	0.000000	T	0.26159	0.0638	L	0.28115	0.83	0.80722	D	1	B	0.17038	0.02	B	0.24269	0.052	T	0.03852	-1.0998	10	0.48119	T	0.1	-24.0036	17.1585	0.86798	0.0801:0.0:0.842:0.0779	.	290	Q5T655	CC147_HUMAN	H	290	ENSP00000358718:Q290H	ENSP00000358718:Q290H	Q	+	3	2	CCDC147	106118248	1.000000	0.71417	0.816000	0.32577	0.317000	0.28152	0.555000	0.23422	-0.923000	0.03785	-0.302000	0.09304	CAG		0.438	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			7	24	1	0	1.26484e-09	0.00308	2.04756e-09	7	24				
CPXM2	119587	broad.mit.edu	37	10	125639736	125639736	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:125639736C>G	ENST00000241305.3	-	2	548	c.394G>C	c.(394-396)Gtc>Ctc	p.V132L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	132					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTCTCTCTGACATCTTCACGG	0.557																																							uc001lhk.1		NA																	0				ovary(2)	2						c.(394-396)GTC>CTC		carboxypeptidase X (M14 family), member 2							200.0	189.0	193.0					10																	125639736		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125639736C>G	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.394G>C	10.37:g.125639736C>G	ENSP00000241305:p.Val132Leu					CPXM2_uc001lhj.2_RNA	p.V132L	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	2	719	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	132					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.394G>C	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	9.741	1.164991	0.21538	.	.	ENSG00000121898	ENST00000241305;ENST00000418782	D	0.96168	-3.93	3.76	0.831	0.18860	.	0.786157	0.11139	N	0.595557	D	0.86422	0.5929	N	0.12182	0.205	0.33462	D	0.585087	B	0.02656	0.0	B	0.01281	0.0	T	0.78247	-0.2278	10	0.25751	T	0.34	-14.859	2.3228	0.04215	0.1999:0.4973:0.1937:0.1091	.	132	Q8N436	CPXM2_HUMAN	L	132	ENSP00000241305:V132L	ENSP00000241305:V132L	V	-	1	0	CPXM2	125629726	0.025000	0.19082	0.266000	0.24541	0.923000	0.55619	-0.092000	0.11129	0.178000	0.19917	-0.127000	0.14921	GTC		0.557	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		18	72	0	0	0	0.007413	0	18	72				
SYCE1	93426	broad.mit.edu	37	10	135368920	135368920	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:135368920G>T	ENST00000343131.5	-	12	957	c.853C>A	c.(853-855)Cat>Aat	p.H285N	SYCE1_ENST00000368517.3_Missense_Mutation_p.H249N|SYCE1_ENST00000432597.2_Missense_Mutation_p.H249N|SPRN_ENST00000541506.1_Intron	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	285	Gln-rich.				synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGCATTCCATGCTTTTCCAGC	0.557																																							uc001lno.2		NA																	0				ovary(1)	1						c.(853-855)CAT>AAT		synaptonemal complex central element protein 1							123.0	108.0	113.0					10																	135368920		2203	4300	6503	SO:0001583	missense	93426				cell division	central element		g.chr10:135368920G>T	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"""cancer/testis antigen 76"""	611486	"""chromosome 10 open reading frame 94"""	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.853C>A	10.37:g.135368920G>T	ENSP00000341282:p.His285Asn					CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.H157N|SYCE1_uc009ybn.2_Missense_Mutation_p.H285N|SYCE1_uc001lnn.2_Missense_Mutation_p.H249N	p.H285N	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	12	958	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	285			Gln-rich.|Potential.		B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	ENST00000343131.5	37	c.853C>A	CCDS44501.1	.	.	.	.	.	.	.	.	.	.	G	7.276	0.608173	0.14002	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.29917	1.55;3.15;3.15;3.15	4.54	-0.37	0.12530	.	0.805161	0.11133	N	0.596125	T	0.20495	0.0493	L	0.43152	1.355	0.09310	N	1	B;B;B	0.32620	0.018;0.018;0.378	B;B;B	0.26614	0.02;0.02;0.071	T	0.15809	-1.0424	10	0.27785	T	0.31	-12.816	7.3638	0.26762	0.4618:0.0:0.5382:0.0	.	157;285;249	Q8N0S2-3;Q8N0S2;Q8N0S2-2	.;SYCE1_HUMAN;.	N	285;249;249;285	ENSP00000303978:H285N;ENSP00000411779:H249N;ENSP00000357503:H249N;ENSP00000341282:H285N	ENSP00000303978:H285N	H	-	1	0	SYCE1	135218910	0.002000	0.14202	0.001000	0.08648	0.037000	0.13140	0.154000	0.16343	-0.061000	0.13110	0.655000	0.94253	CAT		0.557	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_201564		15	48	1	0	1.5739e-10	0.004007	2.6671e-10	15	48				
Unknown	0	broad.mit.edu	37	10	135491024	135491024	+	IGR	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr10:135491024G>T								AL845259.1 (17845 upstream) : None (None downstream)																							AGGCACCCGGGACAGGGTGGC	0.721																																							uc010qvi.1		NA																	0					0						c.(634-636)GGA>GTA		double homeobox, 4-like							28.0	37.0	34.0					10																	135491024		1056	2147	3203	SO:0001628	intergenic_variant	653544					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135491024G>T																													10.37:g.135491024G>T							p.G212V	NM_001127389	NP_001120861	F5GZ66	F5GZ66_HUMAN			1	746	+			212						Missense_Mutation	SNP		37	c.635G>T																																																																																				0	0.721									7	127	1	0	0.000157383	0.00308	0.000195099	7	127				
IFITM2	10581	broad.mit.edu	37	11	308242	308242	+	Missense_Mutation	SNP	C	C	T	rs371736596		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:308242C>T	ENST00000399817.4	+	1	80	c.50C>T	c.(49-51)cCc>cTc	p.P17L	IFITM2_ENST00000533141.1_5'UTR|IFITM2_ENST00000602569.1_5'UTR|RP11-326C3.7_ENST00000526612.1_RNA	NM_006435.2	NP_006426.2	Q01629	IFM2_HUMAN	interferon induced transmembrane protein 2	17					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGCCAGCCTCCCAACTACGAG	0.602																																							uc001lox.3		NA																	0					0						c.(49-51)CCC>CTC		interferon induced transmembrane protein 2							133.0	155.0	148.0					11																	308242		2030	4176	6206	SO:0001583	missense	10581				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding	g.chr11:308242C>T	X57351	CCDS41583.1	11p15.5	2012-03-13	2012-03-13		ENSG00000185201	ENSG00000185201			5413	protein-coding gene	gene with protein product		605578	"""interferon induced transmembrane protein 2 (1-8D)"""			1906403	Standard	NM_006435		Approved	1-8D	uc001lox.4	Q01629		ENST00000399817.4:c.50C>T	11.37:g.308242C>T	ENSP00000382714:p.Pro17Leu						p.P17L	NM_006435	NP_006426	Q01629	IFM2_HUMAN		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)	1	136	+		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	17			Extracellular (Potential).		Q6FH82|Q96DA8	Missense_Mutation	SNP	ENST00000399817.4	37	c.50C>T	CCDS41583.1	.	.	.	.	.	.	.	.	.	.	C	9.001	0.980221	0.18812	.	.	ENSG00000185201	ENST00000399817;ENST00000327366	T	0.79033	-1.23	2.01	-0.197	0.13228	.	0.412203	0.13916	U	0.353928	T	0.63070	0.2480	L	0.41492	1.28	0.09310	N	0.999997	B	0.15473	0.013	B	0.17433	0.018	T	0.52902	-0.8513	10	0.52906	T	0.07	-2.4123	2.3007	0.04162	0.3162:0.4868:0.0:0.1969	.	17	Q01629	IFM2_HUMAN	L	17	ENSP00000382714:P17L	ENSP00000327996:P17L	P	+	2	0	IFITM2	298242	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.624000	0.02038	-0.046000	0.13446	0.205000	0.17691	CCC		0.602	IFITM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383591.1	NM_006435		12	107	0	0	0	0.010729	0	12	107				
MUC6	4588	broad.mit.edu	37	11	1017315	1017315	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:1017315G>C	ENST00000421673.2	-	31	5536	c.5486C>G	c.(5485-5487)cCa>cGa	p.P1829R		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1829	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)		AGGGTGTGATGGGGTTGGATA	0.552																																							uc001lsw.2		NA																	0				ovary(1)	1						c.(5485-5487)CCA>CGA		mucin 6, gastric							781.0	766.0	771.0					11																	1017315		2201	4295	6496	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017315G>C	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5486C>G	11.37:g.1017315G>C	ENSP00000406861:p.Pro1829Arg						p.P1829R	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	5537	-		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)	1829			Thr-rich.|2.|Approximate repeats.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.5486C>G	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394995	0.42512	.	.	ENSG00000184956	ENST00000421673	T	0.26518	1.73	3.21	2.21	0.28008	.	.	.	.	.	T	0.45054	0.1323	M	0.64404	1.975	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.18650	-1.0330	9	0.48119	T	0.1	.	10.416	0.44322	0.0:0.0:0.8021:0.1979	.	1829	Q6W4X9	MUC6_HUMAN	R	1829	ENSP00000406861:P1829R	ENSP00000406861:P1829R	P	-	2	0	MUC6	1007315	0.008000	0.16893	0.001000	0.08648	0.076000	0.17211	1.733000	0.38156	0.580000	0.29522	0.313000	0.20887	CCA		0.552	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		47	660	0	0	0	0.01441	0	47	660				
MUC5B	727897	broad.mit.edu	37	11	1268677	1268677	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:1268677C>A	ENST00000529681.1	+	31	10625	c.10567C>A	c.(10567-10569)Cct>Act	p.P3523T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P3526T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3523	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGAGTCACCCCCTTCTCCAGG	0.677																																							uc009ycr.1		NA																	0					0						c.(12151-12153)CCT>ACT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							58.0	82.0	74.0					11																	1268677		2047	4182	6229	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268677C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10567C>A	11.37:g.1268677C>A	ENSP00000436812:p.Pro3523Thr					MUC5B_uc001ltb.2_Missense_Mutation_p.P3526T	p.P4051T	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	50	12277	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	3523	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.12151C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	3.885	-0.025200	0.07589	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.16073	2.37;2.56	1.31	-1.43	0.08884	.	.	.	.	.	T	0.13628	0.0330	L	0.53249	1.67	0.09310	N	1	B;B	0.22346	0.068;0.053	B;B	0.17433	0.018;0.002	T	0.34104	-0.9842	9	0.87932	D	0	.	2.6248	0.04926	0.2248:0.4532:0.0:0.322	.	4051;3526	A7Y9J9;E9PBJ0	.;.	T	3523;3526;3495;3428	ENSP00000436812:P3523T;ENSP00000415793:P3526T	ENSP00000343037:P3495T	P	+	1	0	MUC5B	1225253	0.000000	0.05858	0.000000	0.03702	0.235000	0.25334	-2.490000	0.00975	-0.328000	0.08539	0.297000	0.19635	CCT		0.677	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		15	107	1	0	3.52763e-06	0.00499	4.88332e-06	15	107				
MUC5B	727897	broad.mit.edu	37	11	1271630	1271630	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:1271630T>A	ENST00000529681.1	+	31	13578	c.13520T>A	c.(13519-13521)cTt>cAt	p.L4507H	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.L4510H	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4507	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCAACTGCCCTTCCAGCACTG	0.627																																							uc009ycr.1		NA																	0					0						c.(14938-14940)CTT>CAT		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							162.0	208.0	192.0					11																	1271630		2183	4263	6446	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271630T>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13520T>A	11.37:g.1271630T>A	ENSP00000436812:p.Leu4507His					MUC5B_uc001ltb.2_Missense_Mutation_p.L4510H	p.L4980H	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	51	15065	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4507			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.14939T>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	3.876	-0.026982	0.07589	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.17528	2.27;2.45	1.46	-0.757	0.11054	.	.	.	.	.	T	0.21468	0.0517	L	0.50333	1.59	0.09310	N	1	P;P	0.50156	0.932;0.932	P;P	0.52881	0.712;0.712	T	0.14144	-1.0483	9	0.87932	D	0	.	4.0942	0.09983	0.0:0.5412:0.0:0.4588	.	4980;4510	A7Y9J9;E9PBJ0	.;.	H	4507;4510;4451;4357;286	ENSP00000436812:L4507H;ENSP00000415793:L4510H	ENSP00000343037:L4451H	L	+	2	0	MUC5B	1228206	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.846000	0.00735	-0.186000	0.10533	0.155000	0.16302	CTT		0.627	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		23	168	0	0	0	0.012319	0	23	168				
DUSP8	1850	broad.mit.edu	37	11	1580211	1580211	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:1580211G>A	ENST00000397374.3	-	4	572	c.445C>T	c.(445-447)Ctc>Ttc	p.L149F	DUSP8_ENST00000331588.4_Missense_Mutation_p.L149F|DUSP8_ENST00000528778.1_5'UTR	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	149					inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|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;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GGCTGGGAGAGGCTCATGGGT	0.662																																							uc001lts.2		NA																	0					0						c.(445-447)CTC>TTC		dual specificity phosphatase 8							61.0	51.0	54.0					11																	1580211		2202	4299	6501	SO:0001583	missense	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1580211G>A		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.445C>T	11.37:g.1580211G>A	ENSP00000380530:p.Leu149Phe						p.L149F	NM_004420	NP_004411	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	4	573	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	149					Q86SS8	Missense_Mutation	SNP	ENST00000397374.3	37	c.445C>T	CCDS7724.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781444	0.49891	.	.	ENSG00000184545	ENST00000397374;ENST00000331588	T;T	0.02737	4.18;4.18	4.34	4.34	0.51931	.	0.795175	0.11232	N	0.585488	T	0.05227	0.0139	M	0.61703	1.905	0.40833	D	0.983603	B	0.32731	0.382	B	0.32677	0.15	T	0.24870	-1.0148	10	0.72032	D	0.01	.	10.2739	0.43499	0.0:0.0:0.6515:0.3485	.	149	Q13202	DUS8_HUMAN	F	149	ENSP00000380530:L149F;ENSP00000329539:L149F	ENSP00000329539:L149F	L	-	1	0	DUSP8	1536787	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	2.299000	0.43611	2.247000	0.74100	0.549000	0.68633	CTC		0.662	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3	NM_004420		4	24	0	0	0	0.009096	0	4	24				
OR51S1	119692	broad.mit.edu	37	11	4870337	4870337	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:4870337C>A	ENST00000322101.2	-	1	177	c.102G>T	c.(100-102)tgG>tgT	p.W34C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAATGTCCACCAGGAGGGTG	0.577																																							uc010qyo.1		NA																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(100-102)TGG>TGT		olfactory receptor, family 51, subfamily S,							105.0	93.0	97.0					11																	4870337		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4870337C>A	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.102G>T	11.37:g.4870337C>A	ENSP00000322754:p.Trp34Cys						p.W34C	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	102	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	34			Helical; Name=1; (Potential).		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.102G>T	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172715	0.38413	.	.	ENSG00000176922	ENST00000322101	T	0.00321	8.11	5.27	4.36	0.52297	.	0.000000	0.41712	D	0.000822	T	0.00300	0.0009	N	0.08118	0	0.58432	D	0.999991	D	0.89917	1.0	D	0.78314	0.991	D	0.94571	0.7771	10	0.87932	D	0	-4.9022	12.7141	0.57105	0.0:0.9204:0.0:0.0796	.	34	Q8NGJ8	O51S1_HUMAN	C	34	ENSP00000322754:W34C	ENSP00000322754:W34C	W	-	3	0	OR51S1	4826913	0.616000	0.27035	1.000000	0.80357	0.311000	0.27955	1.987000	0.40687	1.456000	0.47831	0.563000	0.77884	TGG		0.577	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		22	54	1	0	2.37509e-13	0.010504	4.33438e-13	22	54				
OR51T1	401665	broad.mit.edu	37	11	4903521	4903521	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:4903521C>A	ENST00000322049.1	+	1	392	c.392C>A	c.(391-393)cCa>cAa	p.P131Q	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000380378.1_Missense_Mutation_p.P158Q			Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCTGTAACCCACTGAACTAT	0.498																																							uc010qyp.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(472-474)CCA>CAA		olfactory receptor, family 51, subfamily T,							150.0	129.0	136.0					11																	4903521		2201	4298	6499	SO:0001583	missense	401665				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4903521C>A	BK004283	CCDS31363.1	11p15.4	2012-08-09			ENSG00000176900	ENSG00000176900		"""GPCR / Class A : Olfactory receptors"""	15205	protein-coding gene	gene with protein product							Standard	NM_001004759		Approved		uc010qyp.2	Q8NGJ9	OTTHUMG00000066507	ENST00000322049.1:c.392C>A	11.37:g.4903521C>A	ENSP00000322679:p.Pro131Gln						p.P158Q	NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	473	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	131			Cytoplasmic (Potential).		Q6IFH9	Missense_Mutation	SNP	ENST00000322049.1	37	c.473C>A		.	.	.	.	.	.	.	.	.	.	C	15.97	2.988979	0.53934	.	.	ENSG00000176900	ENST00000380378;ENST00000322049	T;T	0.01902	4.57;4.57	4.46	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000530	T	0.25419	0.0618	H	0.98883	4.36	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	T	0.53121	-0.8483	10	0.87932	D	0	.	15.8213	0.78648	0.0:1.0:0.0:0.0	.	131	Q8NGJ9	O51T1_HUMAN	Q	158;131	ENSP00000369738:P158Q;ENSP00000322679:P131Q	ENSP00000322679:P131Q	P	+	2	0	OR51T1	4860097	1.000000	0.71417	0.985000	0.45067	0.098000	0.18820	7.575000	0.82447	2.315000	0.78130	0.484000	0.47621	CCA		0.498	OR51T1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000142180.1	NM_001004759		26	48	1	0	5.49717e-05	0.00333	7.12251e-05	26	48				
HBB	3043	broad.mit.edu	37	11	5246840	5246840	+	Missense_Mutation	SNP	G	G	T	rs36020563|rs34383403|rs63749858		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:5246840G>T	ENST00000335295.4	-	3	481	c.432C>A	c.(430-432)caC>caA	p.H144Q	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	144			H -> D (in Rancho Mirage).|H -> P (in Syracuse; O(2) affinity up).|H -> Q (in Little Rock; O(2) affinity up; dbSNP:rs36020563).|H -> R (in Abruzzo; O(2) affinity up).		bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	AGTGATACTTGTGGGCCAGGG	0.488									Sickle Cell Trait																														uc001mae.1		NA																	0				central_nervous_system(1)	1						c.(430-432)CAC>CAA		beta globin	Iron Dextran(DB00893)						99.0	94.0	96.0					11																	5246840		2201	4298	6499	SO:0001583	missense	3043	Sickle_Cell_Trait	Familial Cancer Database		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	g.chr11:5246840G>T	J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.432C>A	11.37:g.5246840G>T	ENSP00000333994:p.His144Gln						p.H144Q	NM_000518	NP_000509	P68871	HBB_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	482	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	144		H -> R (in Abruzzo; O(2) affinity up).|H -> P (in Syracuse; O(2) affinity up).|H -> Q (in Little Rock; O(2) affinity up).|H -> D (in Rancho Mirage).		2,3-bisphosphoglycerate.	A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Missense_Mutation	SNP	ENST00000335295.4	37	c.432C>A	CCDS7753.1	.	.	.	.	.	.	.	.	.	.	g	13.73	2.323628	0.41096	.	.	ENSG00000244734	ENST00000335295	D	0.93604	-3.25	4.68	3.77	0.43336	Globin-like (1);Globin, structural domain (1);	.	.	.	.	D	0.90314	0.6970	M	0.62723	1.935	0.34741	D	0.730724	B	0.24721	0.11	B	0.16722	0.016	D	0.90677	0.4602	9	0.87932	D	0	-12.612	7.2915	0.26368	0.1962:0.0:0.8038:0.0	rs36020563	144	P68871	HBB_HUMAN	Q	144	ENSP00000333994:H144Q	ENSP00000333994:H144Q	H	-	3	2	HBB	5203416	1.000000	0.71417	0.989000	0.46669	0.918000	0.54935	1.807000	0.38902	1.331000	0.45412	0.555000	0.69702	CAC		0.488	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142977.2	NM_000518		14	74	1	0	0.000308642	0.003163	0.000372536	14	74				
OR56A3	390083	broad.mit.edu	37	11	5969347	5969347	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:5969347C>A	ENST00000329564.6	+	1	778	c.771C>A	c.(769-771)acC>acA	p.T257T		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T257T(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTCAGCACCATCCTTCTGG	0.527																																							uc010qzt.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(769-771)ACC>ACA		olfactory receptor, family 56, subfamily A,							234.0	226.0	229.0					11																	5969347		2191	4294	6485	SO:0001819	synonymous_variant	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969347C>A		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.771C>A	11.37:g.5969347C>A							p.T257T	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	771	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	257			Helical; Name=6; (Potential).		A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	c.771C>A	CCDS41614.1																																																																																				0.527	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		16	104	1	0	0.00074312	0.006122	0.000865087	16	104				
RRP8	23378	broad.mit.edu	37	11	6622385	6622385	+	Missense_Mutation	SNP	C	C	T	rs373412100		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:6622385C>T	ENST00000254605.6	-	3	1028	c.911G>A	c.(910-912)cGc>cAc	p.R304H	ILK_ENST00000299421.4_5'Flank|ILK_ENST00000420936.2_5'Flank|ILK_ENST00000396751.2_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000528995.1_5'Flank|RRP8_ENST00000534343.1_Intron|ILK_ENST00000537806.1_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	304					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						TCACCGCTGGCGAAGATCCCT	0.577																																							uc001med.2		NA																	0					0						c.(910-912)CGC>CAC		ribosomal RNA processing 8, methyltransferase,		C	HIS/ARG	0,4402		0,0,2201	33.0	33.0	33.0		911	3.9	1.0	11		33	1,8591	1.2+/-3.3	0,1,4295	no	missense	RRP8	NM_015324.3	29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	304/457	6622385	1,12993	2201	4296	6497	SO:0001583	missense	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6622385C>T	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.911G>A	11.37:g.6622385C>T	ENSP00000254605:p.Arg304His					ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank	p.R304H	NM_015324	NP_056139	O43159	RRP8_HUMAN			3	990	-			304					Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	37	c.911G>A	CCDS31411.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265609	0.80358	0.0	1.16E-4	ENSG00000132275	ENST00000254605;ENST00000533907	T;T	0.49139	0.79;0.79	6.08	3.91	0.45181	.	0.287887	0.33813	N	0.004533	T	0.54498	0.1862	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	P	0.59761	0.863	T	0.57159	-0.7859	10	0.72032	D	0.01	-25.5997	8.5824	0.33637	0.0:0.7516:0.0:0.2484	.	304	O43159	RRP8_HUMAN	H	304	ENSP00000254605:R304H;ENSP00000436246:R304H	ENSP00000254605:R304H	R	-	2	0	RRP8	6578961	0.955000	0.32602	1.000000	0.80357	0.994000	0.84299	1.655000	0.37345	1.590000	0.49995	0.655000	0.94253	CGC		0.577	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		3	24	0	0	0	0.009096	0	3	24				
DCHS1	8642	broad.mit.edu	37	11	6653038	6653038	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:6653038C>A	ENST00000299441.3	-	7	3895	c.3484G>T	c.(3484-3486)Gaa>Taa	p.E1162*	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1162	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGTCACTTCTCCTGGGAGT	0.592																																							uc001mem.1		NA																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(3484-3486)GAA>TAA		dachsous 1 precursor							59.0	56.0	57.0					11																	6653038		2201	4296	6497	SO:0001587	stop_gained	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6653038C>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3484G>T	11.37:g.6653038C>A	ENSP00000299441:p.Glu1162*						p.E1162*	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	3894	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1162			Cadherin 11.|Extracellular (Potential).		O15098	Nonsense_Mutation	SNP	ENST00000299441.3	37	c.3484G>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	45	11.502717	0.99569	.	.	ENSG00000166341	ENST00000299441	.	.	.	5.2	5.2	0.72013	.	0.145087	0.31123	N	0.008206	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	13.6175	0.62118	0.0:0.8449:0.1551:0.0	.	.	.	.	X	1162	.	ENSP00000299441:E1162X	E	-	1	0	DCHS1	6609614	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.229000	0.78088	2.711000	0.92665	0.655000	0.94253	GAA		0.592	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		7	12	1	0	0.000157383	0.00308	0.000195099	7	12				
OR10A2	341276	broad.mit.edu	37	11	6891597	6891597	+	Silent	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:6891597C>G	ENST00000307322.4	+	1	674	c.612C>G	c.(610-612)tcC>tcG	p.S204S		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCTTGTGTTCCTATACTCACA	0.483																																							uc001meu.1		NA																	0				breast(1)	1						c.(610-612)TCC>TCG		olfactory receptor, family 10, subfamily A,							278.0	214.0	235.0					11																	6891597		2201	4296	6497	SO:0001819	synonymous_variant	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891597C>G	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.612C>G	11.37:g.6891597C>G							p.S204S	NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	612	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	204			Helical; Name=5; (Potential).		B2RNL9|Q6IFG9	Silent	SNP	ENST00000307322.4	37	c.612C>G	CCDS31415.1																																																																																				0.483	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		24	155	0	0	0	0.003954	0	24	155				
NLRP14	338323	broad.mit.edu	37	11	7079531	7079531	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:7079531C>A	ENST00000299481.4	+	8	2829	c.2483C>A	c.(2482-2484)aCa>aAa	p.T828K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	828					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGTGGTCTCACAGAGGCTGGC	0.453																																							uc001mfb.1		NA																	0				ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(2482-2484)ACA>AAA		NLR family, pyrin domain containing 14							154.0	145.0	148.0					11																	7079531		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7079531C>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2483C>A	11.37:g.7079531C>A	ENSP00000299481:p.Thr828Lys						p.T828K	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	8	2806	+			828			LRR 4.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.2483C>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077990	0.55753	.	.	ENSG00000158077	ENST00000299481	T	0.56611	0.45	4.06	3.14	0.36123	.	0.000000	0.40469	N	0.001088	T	0.72724	0.3496	M	0.90759	3.145	0.36258	D	0.854358	D	0.89917	1.0	D	0.78314	0.991	T	0.78262	-0.2272	10	0.51188	T	0.08	.	8.0588	0.30621	0.0:0.8869:0.0:0.1131	.	828	Q86W24	NAL14_HUMAN	K	828	ENSP00000299481:T828K	ENSP00000299481:T828K	T	+	2	0	NLRP14	7036107	0.774000	0.28592	0.874000	0.34290	0.630000	0.37929	1.246000	0.32803	1.064000	0.40671	0.650000	0.86243	ACA		0.453	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		17	34	1	0	1.01871e-10	0.008871	1.73484e-10	17	34				
C11orf16	56673	broad.mit.edu	37	11	8951044	8951044	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:8951044G>T	ENST00000326053.5	-	3	310	c.204C>A	c.(202-204)gaC>gaA	p.D68E	C11orf16_ENST00000528998.1_Intron|C11orf16_ENST00000525780.1_Missense_Mutation_p.D68E	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	68										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GCCATGCTGGGTCGGCAACGT	0.532																																							uc001mhb.3		NA																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(202-204)GAC>GAA		hypothetical protein LOC56673							66.0	65.0	65.0					11																	8951044		2201	4296	6497	SO:0001583	missense	56673							g.chr11:8951044G>T	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.204C>A	11.37:g.8951044G>T	ENSP00000318999:p.Asp68Glu					C11orf16_uc001mhc.3_Missense_Mutation_p.D68E	p.D68E	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	3	328	-			68					Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	c.204C>A	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.427431	0.25726	.	.	ENSG00000176029	ENST00000525780;ENST00000326053;ENST00000526227	T;T	0.35421	1.32;1.31	4.66	1.72	0.24424	.	0.512089	0.19369	N	0.115950	T	0.28863	0.0716	L	0.60455	1.87	0.09310	N	1	B;B	0.26744	0.068;0.158	B;B	0.31495	0.058;0.131	T	0.24548	-1.0157	10	0.14252	T	0.57	-29.9827	4.9814	0.14166	0.245:0.0:0.6094:0.1456	.	68;68	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	E	68	ENSP00000436818:D68E;ENSP00000318999:D68E	ENSP00000318999:D68E	D	-	3	2	C11orf16	8907620	0.000000	0.05858	0.097000	0.21041	0.034000	0.12701	0.203000	0.17315	0.273000	0.22049	-0.136000	0.14681	GAC		0.532	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	NM_020643		5	19	1	0	1.024e-07	0.000602	1.55521e-07	5	19				
SBF2	81846	broad.mit.edu	37	11	10011043	10011043	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:10011043C>A	ENST00000256190.8	-	13	1533		c.e13+1			NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2						cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TACTTACTTACATTTTTGAAT	0.333																																							uc001mib.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.e13+1		SET binding factor 2							76.0	78.0	77.0					11																	10011043		2200	4291	6491	SO:0001630	splice_region_variant	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:10011043C>A	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.1395+1G>T	11.37:g.10011043C>A						SBF2_uc001mif.3_Splice_Site_p.N221_splice	p.N465_splice	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	13	1533	-								Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Splice_Site	SNP	ENST00000256190.8	37	c.1395_splice	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589960	0.86851	.	.	ENSG00000133812	ENST00000256190;ENST00000420722	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SBF2	9967619	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.025000	0.76449	2.873000	0.98535	0.563000	0.77884	.		0.333	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962	Intron	14	25	1	0	2.32078e-09	0.003163	3.69606e-09	14	25				
MYOD1	4654	broad.mit.edu	37	11	17741497	17741497	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:17741497C>T	ENST00000250003.3	+	1	383	c.168C>T	c.(166-168)ctC>ctT	p.L56L		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	56					cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						TGGGCGCGCTCCTGAAACCCG	0.687																																							uc001mni.2		NA																	0				breast(2)|ovary(1)	3						c.(166-168)CTC>CTT		myogenic differentiation 1							28.0	30.0	29.0					11																	17741497		2200	4293	6493	SO:0001819	synonymous_variant	4654				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr11:17741497C>T	AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"""Basic helix-loop-helix proteins"""	7611	protein-coding gene	gene with protein product	"""myoblast determination protein 1"""	159970	"""myogenic factor 3"""	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.168C>T	11.37:g.17741497C>T							p.L56L	NM_002478	NP_002469	P15172	MYOD1_HUMAN			1	388	+			56					O75321	Silent	SNP	ENST00000250003.3	37	c.168C>T	CCDS7826.1																																																																																				0.687	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389387.1	NM_002478		5	17	0	0	0	0.000602	0	5	17				
MRGPRX4	117196	broad.mit.edu	37	11	18195341	18195341	+	Missense_Mutation	SNP	C	C	A	rs373343848		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:18195341C>A	ENST00000314254.3	+	1	958	c.538C>A	c.(538-540)Cca>Aca	p.P180T	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AGATTTCATCCCAGTCGCGTG	0.522																																							uc001mnv.1		NA																	0				skin(1)	1						c.(538-540)CCA>ACA		MAS-related GPR, member X4							232.0	219.0	224.0					11																	18195341		2199	4293	6492	SO:0001583	missense	117196					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18195341C>A	AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.538C>A	11.37:g.18195341C>A	ENSP00000314042:p.Pro180Thr						p.P180T	NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN			1	958	+			180			Helical; Name=5; (Potential).		Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Missense_Mutation	SNP	ENST00000314254.3	37	c.538C>A	CCDS7831.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.546943	0.00140	.	.	ENSG00000179817	ENST00000314254	T	0.35605	1.3	2.85	-2.9	0.05648	GPCR, rhodopsin-like superfamily (1);	2.031630	0.01937	N	0.041635	T	0.04907	0.0132	N	0.00020	-2.765	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47598	-0.9105	10	0.02654	T	1	.	3.8703	0.09033	0.3214:0.4102:0.2684:0.0	.	180	Q96LA9	MRGX4_HUMAN	T	180	ENSP00000314042:P180T	ENSP00000314042:P180T	P	+	1	0	MRGPRX4	18151917	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.449000	0.02392	-0.446000	0.07149	-1.668000	0.00747	CCA		0.522	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389788.1	NM_054032		9	114	1	0	0.00448238	0.004482	0.00501444	9	114				
IGSF22	283284	broad.mit.edu	37	11	18731050	18731050	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:18731050G>T	ENST00000513874.1	-	18	3021	c.2882C>A	c.(2881-2883)aCa>aAa	p.T961K	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	860										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TCCTCCCACTGTGTAGCAGGT	0.567																																							uc009yht.2		NA																	0				ovary(4)|large_intestine(2)|kidney(1)	7						c.(2881-2883)ACA>AAA		immunoglobulin superfamily, member 22							109.0	113.0	112.0					11																	18731050		1963	4147	6110	SO:0001583	missense	283284							g.chr11:18731050G>T	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2882C>A	11.37:g.18731050G>T	ENSP00000421191:p.Thr961Lys					IGSF22_uc001mpa.2_RNA	p.T961K	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			18	3072	-			860			Fibronectin type-III 2.		A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.2882C>A	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	16.15	3.040654	0.55003	.	.	ENSG00000179057	ENST00000513874	T	0.60672	0.17	4.32	2.33	0.28932	.	.	.	.	.	T	0.60637	0.2284	L	0.41632	1.29	0.21220	N	0.999752	D	0.69078	0.997	D	0.65140	0.932	T	0.47433	-0.9118	9	0.28530	T	0.3	.	7.2807	0.26310	0.2238:0.0:0.7762:0.0	.	961	D6RGV7	.	K	961	ENSP00000421191:T961K	ENSP00000322422:T860K	T	-	2	0	IGSF22	18687626	0.914000	0.31030	0.398000	0.26321	0.945000	0.59286	1.183000	0.32041	0.412000	0.25729	0.655000	0.94253	ACA		0.567	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588		23	54	1	0	3.28513e-13	0.003954	5.97928e-13	23	54				
NAV2	89797	broad.mit.edu	37	11	20066649	20066649	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:20066649C>A	ENST00000396087.3	+	15	3503	c.3404C>A	c.(3403-3405)aCa>aAa	p.T1135K	NAV2_ENST00000360655.4_Missense_Mutation_p.T1048K|NAV2_ENST00000349880.4_Missense_Mutation_p.T1112K|NAV2_ENST00000311043.8_Missense_Mutation_p.T198K|NAV2_ENST00000396085.1_Missense_Mutation_p.T1112K|NAV2_ENST00000540292.1_Missense_Mutation_p.T1066K|NAV2_ENST00000533917.1_Missense_Mutation_p.T198K|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000527559.2_Missense_Mutation_p.T1064K	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1135					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGCTCTAGGACACCTACTGCC	0.602																																							uc010rdm.1		NA																	0				skin(4)|ovary(1)|pancreas(1)	6						c.(3403-3405)ACA>AAA		neuron navigator 2 isoform 2							82.0	72.0	76.0					11																	20066649		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20066649C>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3404C>A	11.37:g.20066649C>A	ENSP00000379396:p.Thr1135Lys					NAV2_uc001mpp.2_Missense_Mutation_p.T1048K|NAV2_uc001mpr.3_Missense_Mutation_p.T1112K|NAV2_uc001mpt.2_Missense_Mutation_p.T198K|NAV2_uc009yhx.2_Missense_Mutation_p.T198K|NAV2_uc009yhy.1_Missense_Mutation_p.T111K	p.T1135K	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			15	3765	+			1135					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.3404C>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	11.92	1.781741	0.31502	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000525322;ENST00000311043;ENST00000536595	T;T;T;T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69;1.69	5.75	4.84	0.62591	.	0.172860	0.41097	D	0.000958	T	0.15609	0.0376	N	0.19112	0.55	0.40523	D	0.98085	B;B;P;B;B	0.36465	0.381;0.302;0.554;0.214;0.277	B;B;B;B;B	0.31946	0.138;0.054;0.107;0.088;0.067	T	0.08597	-1.0714	9	.	.	.	.	14.2032	0.65719	0.0:0.9287:0.0:0.0713	.	1135;198;198;1112;1048	Q8IVL1;Q8IVL1-5;E9PNV5;Q8IVL1-3;Q8IVL1-4	NAV2_HUMAN;.;.;.;.	K	1048;1112;1112;1135;1064;1066;198;198;198;198	ENSP00000353871:T1048K;ENSP00000379394:T1112K;ENSP00000309577:T1112K;ENSP00000379396:T1135K;ENSP00000435395:T1064K;ENSP00000443489:T1066K;ENSP00000437316:T198K;ENSP00000437136:T198K;ENSP00000312169:T198K	.	T	+	2	0	NAV2	20023225	0.925000	0.31364	0.998000	0.56505	0.891000	0.51852	2.974000	0.49272	2.728000	0.93425	0.650000	0.86243	ACA		0.602	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		10	44	1	0	0.000442599	0.006214	0.000527744	10	44				
KIAA1549L	25758	broad.mit.edu	37	11	33589742	33589742	+	Missense_Mutation	SNP	G	G	A	rs376568090		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:33589742G>A	ENST00000321505.4	+	8	3488	c.3308G>A	c.(3307-3309)cGg>cAg	p.R1103Q	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.R1109Q|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.R1109Q			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1103						integral component of membrane (GO:0016021)											CGGTTTAAACGGGCCACCACC	0.587																																							uc001mup.3		NA																	0				ovary(2)	2						c.(3325-3327)CGG>CAG		hypothetical protein LOC25758		G	GLN/ARG	2,3894		0,2,1946	33.0	34.0	34.0		3308	5.4	1.0	11		34	0,8264		0,0,4132	no	missense	C11orf41	NM_012194.2	43	0,2,6078	AA,AG,GG		0.0,0.0513,0.0164	probably-damaging	1103/1850	33589742	2,12158	1948	4132	6080	SO:0001583	missense	25758					integral to membrane		g.chr11:33589742G>A	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3308G>A	11.37:g.33589742G>A	ENSP00000315295:p.Arg1103Gln					C11orf41_uc001mun.1_Missense_Mutation_p.R1109Q	p.R1109Q	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			8	3450	+			1103					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3326G>A	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.690935|5.690935	0.96793|0.96793	5.13E-4|5.13E-4	0.0|0.0	ENSG00000110427|ENSG00000110427	ENST00000526400|ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83547|0.83547	0.5278|0.5278	M|M	0.82056|0.82056	2.57|2.57	0.38388|0.38388	D|D	0.945324|0.945324	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.86607|0.86607	0.1870|0.1870	5|9	.|0.87932	.|D	.|0	-22.5335|-22.5335	19.2636|19.2636	0.93977|0.93977	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1109;1109	.|E9PAT2;Q6ZVL6-2	.|.;.	R|Q	501|1103;1109;1109;942	.|.	.|ENSP00000265654:R1109Q	G|R	+|+	1|2	0|0	C11orf41|C11orf41	33546318|33546318	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.435000|9.435000	0.97529|0.97529	2.539000|2.539000	0.85634|0.85634	0.555000|0.555000	0.69702|0.69702	GGG|CGG		0.587	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		3	18	0	0	0	0.004672	0	3	18				
FJX1	24147	broad.mit.edu	37	11	35640710	35640710	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:35640710C>T	ENST00000317811.4	+	1	976	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	176					retina layer formation (GO:0010842)	extracellular space (GO:0005615)				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				CGACGGCACCCGCGCCTGCGT	0.736																																					Melanoma(161;10 2587 27165 47356)	Melanoma(161;10 2587 27165 47356)	uc001mwh.2		NA																	0					0						c.(526-528)CGC>TGC		four jointed box 1 precursor							7.0	8.0	8.0					11																	35640710		1581	3551	5132	SO:0001583	missense	24147					extracellular space		g.chr11:35640710C>T	AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"""putative secreted ligand homologous to fjx1"""	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		ENST00000317811.4:c.526C>T	11.37:g.35640710C>T	ENSP00000400223:p.Arg176Cys						p.R176C	NM_014344	NP_055159	Q86VR8	FJX1_HUMAN			1	976	+	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)	176					B2RCA9|Q9UGK6	Missense_Mutation	SNP	ENST00000317811.4	37	c.526C>T	CCDS44570.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446383	0.63178	.	.	ENSG00000179431	ENST00000317811	T	0.34275	1.37	4.34	4.34	0.51931	.	.	.	.	.	T	0.56217	0.1970	M	0.68317	2.08	0.45607	D	0.998545	D	0.89917	1.0	D	0.66979	0.948	T	0.61964	-0.6954	9	0.87932	D	0	-5.918	14.3647	0.66799	0.0:1.0:0.0:0.0	.	176	Q86VR8	FJX1_HUMAN	C	176	ENSP00000400223:R176C	ENSP00000400223:R176C	R	+	1	0	FJX1	35597286	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.626000	0.46460	1.954000	0.56735	0.462000	0.41574	CGC		0.736	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389078.1	NM_014344		3	7	0	0	0	0.001168	0	3	7				
OR4C6	219432	broad.mit.edu	37	11	55432968	55432968	+	Missense_Mutation	SNP	G	G	C	rs200362274		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:55432968G>C	ENST00000314259.3	+	1	355	c.326G>C	c.(325-327)gGg>gCg	p.G109A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGTGGTGTGGGGATCATCCTC	0.547																																							uc001nht.3		NA																	0				skin(2)	2						c.(325-327)GGG>GCG		olfactory receptor, family 4, subfamily C,							117.0	106.0	110.0					11																	55432968		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432968G>C	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.326G>C	11.37:g.55432968G>C	ENSP00000324769:p.Gly109Ala					OR4C6_uc010rik.1_Missense_Mutation_p.G109A	p.G109A	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	591	+			109			Helical; Name=3; (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.326G>C	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	6.958	0.546662	0.13312	.	.	ENSG00000181903	ENST00000314259	T	0.37584	1.19	3.83	-0.0445	0.13855	GPCR, rhodopsin-like superfamily (1);	0.640794	0.12777	N	0.439961	T	0.17916	0.0430	N	0.11560	0.145	0.09310	N	1	B	0.29552	0.248	B	0.32677	0.15	T	0.21245	-1.0251	10	0.87932	D	0	.	3.81	0.08793	0.3546:0.2034:0.442:0.0	.	109	Q8NH72	OR4C6_HUMAN	A	109	ENSP00000324769:G109A	ENSP00000324769:G109A	G	+	2	0	OR4C6	55189544	0.000000	0.05858	0.139000	0.22197	0.231000	0.25187	0.300000	0.19156	0.120000	0.18254	0.543000	0.68304	GGG		0.547	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		7	46	0	0	0	0.004482	0	7	46				
OR5D18	219438	broad.mit.edu	37	11	55587841	55587842	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:55587841_55587842CT>AA	ENST00000333976.4	+	1	756_757	c.736_737CT>AA	c.(736-738)CTg>AAg	p.L246K		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TGCCTCCCACCTGACTGCCATC	0.51																																							uc010rin.1		NA																	0				skin(2)|ovary(1)	3						c.(736-738)CTG>AAG		olfactory receptor, family 5, subfamily D,																																				SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587841_55587842CT>AA	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	Exception_encountered	11.37:g.55587841_55587842delinsAA	ENSP00000335025:p.Leu246Lys						p.L246K	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	736_737	+		all_epithelial(135;0.208)	246			Helical; Name=6; (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	DNP	ENST00000333976.4	37	c.736_737CT>AA	CCDS31510.1																																																																																				0.510	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		6	55	0	0	0	0.004672	0	6	55				
OR8H3	390152	broad.mit.edu	37	11	55890132	55890132	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:55890132C>A	ENST00000313472.3	+	1	284	c.284C>A	c.(283-285)aCg>aAg	p.T95K		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATTTCCTTCACGGGCTGCTTT	0.433																																							uc001nii.1		NA																	0				ovary(2)	2						c.(283-285)ACG>AAG		olfactory receptor, family 8, subfamily H,							337.0	329.0	332.0					11																	55890132		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890132C>A	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.284C>A	11.37:g.55890132C>A	ENSP00000323928:p.Thr95Lys						p.T95K	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	284	+	Esophageal squamous(21;0.00693)		95			Extracellular (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.284C>A	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.450108	0.01080	.	.	ENSG00000181761	ENST00000313472	T	0.00388	7.59	3.44	-6.89	0.01660	GPCR, rhodopsin-like superfamily (1);	2.796890	0.00789	N	0.001321	T	0.00271	0.0008	L	0.46947	1.48	0.09310	N	1	B	0.17465	0.022	B	0.20767	0.031	T	0.39187	-0.9626	10	0.32370	T	0.25	.	5.473	0.16680	0.1129:0.5099:0.2283:0.1488	.	95	Q8N146	OR8H3_HUMAN	K	95	ENSP00000323928:T95K	ENSP00000323928:T95K	T	+	2	0	OR8H3	55646708	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-8.873000	0.00016	-1.589000	0.01625	0.173000	0.16961	ACG		0.433	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		20	291	1	0	1.01871e-10	0.008871	1.73484e-10	20	291				
APLNR	187	broad.mit.edu	37	11	57003413	57003413	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:57003413G>T	ENST00000606794.1	-	1	1262	c.1066C>A	c.(1066-1068)Ccc>Acc	p.P356T		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	356					G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation (GO:0007369)|heart development (GO:0007507)|regulation of body fluid levels (GO:0050878)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCCATGTTGGGGCCGGGCCCC	0.627																																							uc001njo.2		NA																	0				lung(5)|ovary(1)	6						c.(1066-1068)CCC>ACC		apelin receptor							61.0	54.0	56.0					11																	57003413		2201	4296	6497	SO:0001583	missense	187					integral to plasma membrane	G-protein coupled receptor activity	g.chr11:57003413G>T	U03642	CCDS7950.1	11q12.1	2012-08-08	2008-05-12	2008-05-12	ENSG00000134817	ENSG00000134817			339	protein-coding gene	gene with protein product	"""APJ (apelin) receptor"""	600052	"""angiotensin II receptor-like 1"""	AGTRL1		8294032, 14622440	Standard	NM_005161		Approved	FLJ90771, APJ, APJR	uc001njo.3	P35414	OTTHUMG00000167021	ENST00000606794.1:c.1066C>A	11.37:g.57003413G>T	ENSP00000475344:p.Pro356Thr					APLNR_uc001njn.3_RNA	p.P356T	NM_005161	NP_005152	P35414	APJ_HUMAN			1	1515	-			356			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000606794.1	37	c.1066C>A	CCDS7950.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431221	0.25726	.	.	ENSG00000134817	ENST00000257254;ENST00000326830;ENST00000444275	T	0.68479	-0.33	4.93	2.95	0.34219	Apelin receptor, C-terminal (1);	0.782546	0.11178	N	0.591307	T	0.45296	0.1335	N	0.14661	0.345	0.26859	N	0.968006	B	0.06786	0.001	B	0.04013	0.001	T	0.27262	-1.0079	10	0.13108	T	0.6	-25.0102	8.5614	0.33514	0.0:0.2722:0.4545:0.2732	.	356	P35414	APJ_HUMAN	T	356;237;275	ENSP00000257254:P356T	ENSP00000257254:P356T	P	-	1	0	APLNR	56759989	0.774000	0.28592	0.716000	0.30569	0.976000	0.68499	0.943000	0.29030	0.597000	0.29811	0.655000	0.94253	CCC		0.627	APLNR-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000470575.1	NM_005161		23	34	1	0	9.86323e-18	0.003954	1.88497e-17	23	34				
OR5B21	219968	broad.mit.edu	37	11	58275275	58275275	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:58275275A>T	ENST00000360374.2	-	1	303	c.304T>A	c.(304-306)Ttt>Att	p.F102I		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F102delF(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AACCCCACAAAGAAGAAGAAC	0.547																																							uc010rki.1		NA																	1	Deletion - In frame(1)		large_intestine(1)	ovary(3)	3						c.(304-306)TTT>ATT		olfactory receptor, family 5, subfamily B,							122.0	94.0	104.0					11																	58275275		2201	4295	6496	SO:0001583	missense	219968				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58275275A>T		CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.304T>A	11.37:g.58275275A>T	ENSP00000353537:p.Phe102Ile						p.F102I	NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN			1	304	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	102			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000360374.2	37	c.304T>A	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713720	0.68730	.	.	ENSG00000198283	ENST00000360374	T	0.00299	8.22	4.75	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37955	U	0.001876	T	0.00412	0.0013	M	0.77486	2.375	0.28457	N	0.916059	D	0.58268	0.982	P	0.52217	0.693	T	0.33369	-0.9871	10	0.87932	D	0	-15.3778	10.2434	0.43326	0.6838:0.3162:0.0:0.0	.	102	A6NL26	OR5BL_HUMAN	I	102	ENSP00000353537:F102I	ENSP00000353537:F102I	F	-	1	0	OR5B21	58031851	0.100000	0.21855	0.994000	0.49952	0.997000	0.91878	3.011000	0.49567	0.810000	0.34279	0.533000	0.62120	TTT		0.547	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218		7	13	0	0	0	0.001984	0	7	13				
OR5A1	219982	broad.mit.edu	37	11	59210776	59210776	+	Missense_Mutation	SNP	C	C	A	rs370934096		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:59210776C>A	ENST00000302030.2	+	1	160	c.135C>A	c.(133-135)aaC>aaA	p.N45K		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TGGCCTGGAACCTGGCCCTCA	0.498																																							uc001nnx.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(133-135)AAC>AAA		olfactory receptor, family 5, subfamily A,		C	LYS/ASN	0,4402		0,0,2201	139.0	134.0	136.0		135	4.1	1.0	11		136	1,8589	1.2+/-3.3	0,1,4294	no	missense	OR5A1	NM_001004728.1	94	0,1,6495	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	45/316	59210776	1,12991	2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59210776C>A	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.135C>A	11.37:g.59210776C>A	ENSP00000303096:p.Asn45Lys						p.N45K	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	135	+			45			Helical; Name=1; (Potential).		B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.135C>A	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665301	0.67700	0.0	1.16E-4	ENSG00000172320	ENST00000302030	T	0.75704	-0.96	6.16	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000019	D	0.86443	0.5934	H	0.96175	3.78	0.40524	D	0.980866	D	0.62365	0.991	P	0.56434	0.798	D	0.87374	0.2352	10	0.87932	D	0	-34.3816	7.604	0.28091	0.0:0.6267:0.0:0.3733	.	45	Q8NGJ0	OR5A1_HUMAN	K	45	ENSP00000303096:N45K	ENSP00000303096:N45K	N	+	3	2	OR5A1	58967352	0.860000	0.29831	0.998000	0.56505	0.952000	0.60782	0.878000	0.28126	0.865000	0.35603	0.650000	0.86243	AAC		0.498	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		4	74	1	0	0.00024832	0.009096	0.000303453	4	74				
MS4A5	64232	broad.mit.edu	37	11	60198297	60198297	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:60198297C>A	ENST00000300190.2	+	2	268	c.182C>A	c.(181-183)aCc>aAc	p.T61N	MS4A5_ENST00000534071.1_Intron	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	61						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						GGAATTATGACCTTTTCTTTT	0.363																																							uc001npo.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(181-183)ACC>AAC		membrane-spanning 4-domains, subfamily A, member							248.0	245.0	246.0					11																	60198297		2203	4300	6503	SO:0001583	missense	64232					integral to membrane	receptor activity	g.chr11:60198297C>A	AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.182C>A	11.37:g.60198297C>A	ENSP00000300190:p.Thr61Asn						p.T61N	NM_023945	NP_076434	Q9H3V2	MS4A5_HUMAN			2	268	+			61			Helical; (Potential).		Q9BZH1	Missense_Mutation	SNP	ENST00000300190.2	37	c.182C>A	CCDS7987.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.643|2.643	-0.283768|-0.283768	0.05642|0.05642	.|.	.|.	ENSG00000166930|ENSG00000166930	ENST00000528905|ENST00000300190	.|T	.|0.02369	.|4.32	4.69|4.69	-0.67|-0.67	0.11384|0.11384	.|.	.|0.649555	.|0.16052	.|N	.|0.231905	T|T	0.00998|0.00998	0.0033|0.0033	N|N	0.01277|0.01277	-0.915|-0.915	0.23030|0.23030	N|N	0.998408|0.998408	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.46555|0.46555	-0.9183|-0.9183	5|10	.|0.27785	.|T	.|0.31	0.0038|0.0038	4.835|4.835	0.13460|0.13460	0.43:0.2819:0.0:0.2881|0.43:0.2819:0.0:0.2881	.|.	.|61	.|Q9H3V2	.|MS4A5_HUMAN	E|N	34|61	.|ENSP00000300190:T61N	.|ENSP00000300190:T61N	D|T	+|+	3|2	2|0	MS4A5|MS4A5	59954873|59954873	0.998000|0.998000	0.40836|0.40836	0.920000|0.920000	0.36463|0.36463	0.519000|0.519000	0.34347|0.34347	0.244000|0.244000	0.18124|0.18124	-0.293000|-0.293000	0.08986|0.08986	-0.311000|-0.311000	0.09066|0.09066	GAC|ACC		0.363	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1			28	95	1	0	1.26454e-06	0.005443	1.79753e-06	28	95				
BSCL2	26580	broad.mit.edu	37	11	62462126	62462127	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:62462126_62462127GG>AA	ENST00000403550.1	-	4	774_775	c.351_352CC>TT	c.(349-354)tcCCct>tcTTct	p.P118S	BSCL2_ENST00000360796.5_Missense_Mutation_p.P182S|BSCL2_ENST00000405837.1_Missense_Mutation_p.P182S|BSCL2_ENST00000421906.1_Missense_Mutation_p.P118S|BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000278893.7_Missense_Mutation_p.P118S|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000433053.1_Missense_Mutation_p.P182S|BSCL2_ENST00000407022.3_Missense_Mutation_p.P118S			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	118					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						TGATTCACAGGGGACTCTGGCA	0.475											OREG0021029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001nuo.1		NA																	0					0						c.(349-354)TCCCCT>TCTTCT		seipin isoform 2																																				SO:0001583	missense	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62462126_62462127GG>AA		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.351_352delinsAA	11.37:g.62462126_62462127delinsAA	ENSP00000385561:p.Pro118Ser		OREG0021029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1061	BSCL2_uc009yoc.1_Missense_Mutation_p.P118S|BSCL2_uc001nup.2_Missense_Mutation_p.P118S|BSCL2_uc001nuq.1_Missense_Mutation_p.P118S|BSCL2_uc001nur.3_Missense_Mutation_p.P182S|BSCL2_uc009yod.2_Missense_Mutation_p.P182S|BSCL2_uc001nut.3_Missense_Mutation_p.P182S|HNRNPUL2_uc001nuu.1_RNA	p.P118S	NM_032667	NP_116056	Q96G97	BSCL2_HUMAN			4	775_776	-			118			Lumenal (Potential).		G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	DNP	ENST00000403550.1	37	c.351_352CC>TT	CCDS8031.1																																																																																				0.475	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		9	22	0	0	0	0.004672	0	9	22				
SF3B2	10992	broad.mit.edu	37	11	65828200	65828200	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:65828200G>T	ENST00000322535.6	+	14	1826	c.1777G>T	c.(1777-1779)Gag>Tag	p.E593*	SF3B2_ENST00000528302.1_Nonsense_Mutation_p.E576*	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	593					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCTGTACTATGAGGTTCGGGA	0.483																																							uc001ogy.1		NA																	0				ovary(2)|breast(1)	3						c.(1777-1779)GAG>TAG		splicing factor 3B subunit 2							86.0	81.0	83.0					11																	65828200		2201	4295	6496	SO:0001587	stop_gained	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65828200G>T	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.1777G>T	11.37:g.65828200G>T	ENSP00000318861:p.Glu593*						p.E593*	NM_006842	NP_006833	Q13435	SF3B2_HUMAN			14	1817	+			593					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Nonsense_Mutation	SNP	ENST00000322535.6	37	c.1777G>T	CCDS31612.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.861178|4.861178	0.91433|0.91433	.|.	.|.	ENSG00000087365|ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456|ENST00000530981	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74160	.|0.3680	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71909	.|-0.4450	.|3	0.87932|.	D|.	0|.	-38.794|-38.794	17.5709|17.5709	0.87934|0.87934	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	576;593;497|13	.|.	ENSP00000318861:E593X|.	E|M	+|+	1|3	0|0	SF3B2|SF3B2	65584776|65584776	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.917000|0.917000	0.54804|0.54804	8.785000|8.785000	0.91822|0.91822	2.747000|2.747000	0.94245|0.94245	0.644000|0.644000	0.83932|0.83932	GAG|ATG		0.483	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			10	53	1	0	0.000673444	0.008291	0.000786638	10	53				
IGHMBP2	3508	broad.mit.edu	37	11	68707165	68707165	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:68707165A>T	ENST00000255078.3	+	15	3059	c.2948A>T	c.(2947-2949)cAg>cTg	p.Q983L	RP11-757G1.5_ENST00000542410.1_RNA	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	983					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTCAGCAACCAGAGGACCAGC	0.657																																							uc001ook.1		NA																	0					0						c.(2947-2949)CAG>CTG		immunoglobulin mu binding protein 2							33.0	30.0	31.0					11																	68707165		2198	4293	6491	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68707165A>T	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2948A>T	11.37:g.68707165A>T	ENSP00000255078:p.Gln983Leu					IGHMBP2_uc001ool.1_Missense_Mutation_p.Q607L	p.Q983L	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		15	3050	+			983					A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.2948A>T	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	A	19.30	3.800554	0.70567	.	.	ENSG00000132740	ENST00000255078	D	0.90732	-2.72	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93992	0.7268	10	0.59425	D	0.04	-23.0878	13.0178	0.58768	1.0:0.0:0.0:0.0	.	983	P38935	SMBP2_HUMAN	L	983	ENSP00000255078:Q983L	ENSP00000255078:Q983L	Q	+	2	0	IGHMBP2	68463741	1.000000	0.71417	0.998000	0.56505	0.495000	0.33615	8.205000	0.89743	1.708000	0.51301	0.459000	0.35465	CAG		0.657	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		6	15	0	0	0	0.001168	0	6	15				
MRGPRD	116512	broad.mit.edu	37	11	68748403	68748403	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:68748403G>T	ENST00000309106.3	-	1	52	c.53C>A	c.(52-54)tCc>tAc	p.S18Y		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	18						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCTCCCTCTGGAATAGTTTAG	0.552																																							uc010rqf.1		NA																	0				pancreas(1)	1						c.(52-54)TCC>TAC		MAS-related GPR, member D							76.0	72.0	73.0					11																	68748403		2200	4293	6493	SO:0001583	missense	116512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68748403G>T	AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.53C>A	11.37:g.68748403G>T	ENSP00000310631:p.Ser18Tyr						p.S18Y	NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		1	53	-			18			Extracellular (Potential).		Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	c.53C>A	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	G	1.968	-0.437253	0.04636	.	.	ENSG00000172938	ENST00000309106	T	0.37752	1.18	3.44	2.52	0.30459	.	14.919900	0.00496	U	0.000146	T	0.21962	0.0529	N	0.08118	0	0.09310	N	1	B	0.29590	0.25	B	0.22152	0.038	T	0.21075	-1.0256	10	0.48119	T	0.1	-1.8303	7.5352	0.27706	0.1297:0.0:0.8703:0.0	.	18	Q8TDS7	MRGRD_HUMAN	Y	18	ENSP00000310631:S18Y	ENSP00000310631:S18Y	S	-	2	0	MRGPRD	68504979	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.431000	0.02432	0.755000	0.32990	-0.657000	0.03884	TCC		0.552	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923		10	35	1	0	2.17888e-05	0.006214	2.89955e-05	10	35				
PAK1	5058	broad.mit.edu	37	11	77064628	77064628	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:77064628C>A	ENST00000356341.3	-	8	1320	c.789G>T	c.(787-789)gtG>gtT	p.V263V	PAK1_ENST00000528203.1_Silent_p.V165V|PAK1_ENST00000278568.4_Silent_p.V263V|PAK1_ENST00000530617.1_Silent_p.V263V|PAK1_ENST00000525542.1_Intron	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	263	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					TAGGATCGCCCACACTCACTA	0.413																																							uc001oyh.3		NA																	0				skin(2)|stomach(1)|lung(1)	4						c.(787-789)GTG>GTT		p21-activated kinase 1 isoform 2							157.0	137.0	144.0					11																	77064628		2200	4292	6492	SO:0001819	synonymous_variant	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77064628C>A	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.789G>T	11.37:g.77064628C>A						PAK1_uc010rso.1_Silent_p.V165V|PAK1_uc001oyg.3_Silent_p.V263V|PAK1_uc001oyi.1_Silent_p.V263V|PAK1_uc010rsn.1_Intron	p.V263V	NM_002576	NP_002567	Q13153	PAK1_HUMAN			8	1322	-	all_cancers(14;1.75e-18)		263			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	Silent	SNP	ENST00000356341.3	37	c.789G>T	CCDS8250.1																																																																																				0.413	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		17	28	1	0	2.35188e-11	0.006122	4.0861e-11	17	28				
TENM4	26011	broad.mit.edu	37	11	78369359	78369359	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:78369359T>A	ENST00000278550.7	-	34	8516	c.8054A>T	c.(8053-8055)gAg>gTg	p.E2685V		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2685					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TGCCTTCTCCTCATCCAACGT	0.622																																							uc001ozl.3		NA																	0				ovary(2)|pancreas(2)	4						c.(8053-8055)GAG>GTG		odz, odd Oz/ten-m homolog 4							49.0	53.0	52.0					11																	78369359		2084	4207	6291	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78369359T>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.8054A>T	11.37:g.78369359T>A	ENSP00000278550:p.Glu2685Val					ODZ4_uc001ozk.3_Missense_Mutation_p.E910V|ODZ4_uc009yvb.1_Intron	p.E2685V	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			34	8517	-			2685			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.8054A>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274868	0.80580	.	.	ENSG00000149256	ENST00000278550	D	0.90676	-2.71	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.94604	0.8261	M	0.71206	2.165	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.94307	0.7542	9	.	.	.	.	15.9198	0.79552	0.0:0.0:0.0:1.0	.	2685	Q6N022	TEN4_HUMAN	V	2685	ENSP00000278550:E2685V	.	E	-	2	0	ODZ4	78047007	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	7.825000	0.86693	2.343000	0.79666	0.533000	0.62120	GAG		0.622	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			6	16	0	0	0	0.001168	0	6	16				
FAT3	120114	broad.mit.edu	37	11	92498234	92498234	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:92498234C>A	ENST00000298047.6	+	5	4191	c.4174C>A	c.(4174-4176)Cct>Act	p.P1392T	RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000525166.1_Missense_Mutation_p.P1242T|FAT3_ENST00000409404.2_Missense_Mutation_p.P1392T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1392	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCTAACACCCCTCTGTGGTT	0.403										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(4174-4176)CCT>ACT		FAT tumor suppressor homolog 3							85.0	86.0	85.0					11																	92498234		1906	4111	6017	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92498234C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.4174C>A	11.37:g.92498234C>A	ENSP00000298047:p.Pro1392Thr	TCGA Ovarian(4;0.039)					p.P1392T	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			5	4191	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1392			Cadherin 13.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.4174C>A		.	.	.	.	.	.	.	.	.	.	C	1.044	-0.678046	0.03378	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.60424	0.19;0.19;0.19	5.97	5.07	0.68467	.	.	.	.	.	T	0.48187	0.1486	L	0.36672	1.1	0.80722	D	1	B	0.18741	0.03	B	0.21708	0.036	T	0.37957	-0.9683	9	0.18710	T	0.47	.	15.3074	0.74004	0.0:0.9331:0.0:0.0669	.	1392	Q8TDW7-3	.	T	1392;1392;1242	ENSP00000298047:P1392T;ENSP00000387040:P1392T;ENSP00000432586:P1242T	ENSP00000298047:P1392T	P	+	1	0	FAT3	92137882	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	3.706000	0.54830	1.534000	0.49203	0.655000	0.94253	CCT		0.403	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	16	1	0	0.00307968	0.00308	0.00347347	7	16				
ENDOD1	23052	broad.mit.edu	37	11	94862606	94862606	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:94862606G>C	ENST00000278505.4	+	2	1484	c.1366G>C	c.(1366-1368)Gca>Cca	p.A456P		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	456						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				CAAGGACATTGCACTGGGCCT	0.522																																							uc001pfh.2		NA																	0					0						c.(1366-1368)GCA>CCA		endonuclease domain containing 1 precursor							201.0	190.0	194.0					11																	94862606		2028	4197	6225	SO:0001583	missense	23052					extracellular region	endonuclease activity|metal ion binding|nucleic acid binding	g.chr11:94862606G>C	BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.1366G>C	11.37:g.94862606G>C	ENSP00000278505:p.Ala456Pro						p.A456P	NM_015036	NP_055851	O94919	ENDD1_HUMAN			2	1441	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)	456					A8K6K8|Q6GQY5|Q8TAQ8	Missense_Mutation	SNP	ENST00000278505.4	37	c.1366G>C	CCDS41699.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.140789	0.56936	.	.	ENSG00000149218	ENST00000278505	T	0.38240	1.15	5.97	5.97	0.96955	.	0.167596	0.42420	D	0.000703	T	0.59183	0.2175	M	0.69823	2.125	0.35784	D	0.821869	D	0.89917	1.0	D	0.71414	0.973	T	0.68135	-0.5489	10	0.72032	D	0.01	-17.3228	15.1806	0.72956	0.0:0.0:0.8591:0.1409	.	456	O94919	ENDD1_HUMAN	P	456	ENSP00000278505:A456P	ENSP00000278505:A456P	A	+	1	0	ENDOD1	94502254	0.996000	0.38824	0.469000	0.27204	0.446000	0.32137	4.475000	0.60210	2.834000	0.97654	0.557000	0.71058	GCA		0.522	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1	NM_015036		10	100	0	0	0	0.010729	0	10	100				
DLAT	1737	broad.mit.edu	37	11	111915913	111915913	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:111915913A>G	ENST00000280346.6	+	9	1908	c.1249A>G	c.(1249-1251)Aca>Gca	p.T417A	DLAT_ENST00000393051.1_Missense_Mutation_p.T312A|DLAT_ENST00000537636.1_Missense_Mutation_p.T188A	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	417	Catalytic. {ECO:0000250}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		ACCAGTTCCTACAGGTGTCTT	0.468																																							uc001pmo.2		NA																	0					0						c.(1249-1251)ACA>GCA		dihydrolipoamide S-acetyltransferase precursor	NADH(DB00157)						174.0	172.0	173.0					11																	111915913		2201	4297	6498	SO:0001583	missense	1737				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	g.chr11:111915913A>G	Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1249A>G	11.37:g.111915913A>G	ENSP00000280346:p.Thr417Ala					DLAT_uc009yyk.1_Missense_Mutation_p.T312A|DLAT_uc010rwr.1_Missense_Mutation_p.T290A	p.T417A	NM_001931	NP_001922	P10515	ODP2_HUMAN		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	9	1908	+		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)	417			Catalytic (By similarity).		Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	c.1249A>G	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.647274	0.00792	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.21361	2.47;2.6;2.47;2.01	5.55	-5.61	0.02489	.	0.518493	0.21923	N	0.067135	T	0.07098	0.0180	N	0.14661	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	0.37291	-0.9712	10	0.07175	T	0.84	-8.1736	7.2589	0.26191	0.2793:0.102:0.519:0.0997	.	417;312;417	Q86YI5;E9PEJ4;P10515	.;.;ODP2_HUMAN	A	417;312;249;188	ENSP00000280346:T417A;ENSP00000376771:T312A;ENSP00000433432:T249A;ENSP00000442427:T188A	ENSP00000280346:T417A	T	+	1	0	DLAT	111421123	0.000000	0.05858	0.602000	0.28890	0.094000	0.18550	-0.303000	0.08210	-1.195000	0.02680	-2.194000	0.00310	ACA		0.468	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1	NM_001931		40	96	0	0	0	0.009718	0	40	96				
TTC12	54970	broad.mit.edu	37	11	113215031	113215031	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:113215031G>T	ENST00000529221.1	+	13	1128	c.1023G>T	c.(1021-1023)agG>agT	p.R341S	TTC12_ENST00000483239.2_Missense_Mutation_p.R347S|TTC12_ENST00000393020.1_Missense_Mutation_p.R341S|TTC12_ENST00000314756.3_Missense_Mutation_p.R341S|TTC12_ENST00000478125.1_3'UTR	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	341										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		ACCATGACAGGGCCAGGCTGT	0.562																																							uc001pnu.2		NA																	0				pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1021-1023)AGG>AGT		tetratricopeptide repeat domain 12							143.0	116.0	125.0					11																	113215031		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113215031G>T	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1023G>T	11.37:g.113215031G>T	ENSP00000433757:p.Arg341Ser					TTC12_uc001pnv.2_Missense_Mutation_p.R347S|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.R191S	p.R341S	NM_017868	NP_060338	Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	13	1128	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	341					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.1023G>T	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	G	0.568	-0.842457	0.02671	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.41	2.58	0.30949	Armadillo-like helical (1);Armadillo-type fold (1);	8.021470	0.00980	U	0.003366	T	0.37972	0.1023	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.22626	-1.0211	10	0.37606	T	0.19	0.4179	8.5366	0.33366	0.2428:0.0:0.7572:0.0	.	341;341	A8K8G6;Q9H892	.;TTC12_HUMAN	S	341;341;341;347	ENSP00000433757:R341S;ENSP00000315160:R341S;ENSP00000376743:R341S;ENSP00000419652:R347S	ENSP00000315160:R341S	R	+	3	2	TTC12	112720241	0.003000	0.15002	0.003000	0.11579	0.002000	0.02628	0.107000	0.15375	0.285000	0.22329	-0.727000	0.03589	AGG		0.562	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		38	58	1	0	2.40579e-17	0.00623	4.585e-17	38	58				
USP28	57646	broad.mit.edu	37	11	113712397	113712397	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:113712397C>A	ENST00000003302.4	-	4	430	c.362G>T	c.(361-363)aGa>aTa	p.R121I	USP28_ENST00000545540.1_5'UTR|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Missense_Mutation_p.R121I|USP28_ENST00000260188.5_Missense_Mutation_p.R121I	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	121					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)			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)		GTTAAGATCTCTTCCATCAGC	0.393																																					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																	0				lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(361-363)AGA>ATA		ubiquitin specific protease 28							123.0	122.0	122.0					11																	113712397		2201	4296	6497	SO:0001583	missense	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.chr11:113712397C>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.362G>T	11.37:g.113712397C>A	ENSP00000003302:p.Arg121Ile					USP28_uc010rwy.1_5'UTR|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.R121I|USP28_uc010rwz.1_Missense_Mutation_p.R121I	p.R121I	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	4	395	-		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)	121					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.362G>T	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499167	0.64298	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000537706;ENST00000537642	T;T;T	0.34072	1.38;1.39;1.77	5.4	5.4	0.78164	.	0.130060	0.45606	D	0.000349	T	0.46347	0.1388	L	0.56769	1.78	0.58432	D	0.999998	P;B;B	0.50066	0.931;0.399;0.399	P;B;B	0.51170	0.661;0.124;0.064	T	0.36163	-0.9759	10	0.44086	T	0.13	-13.7221	14.6893	0.69072	0.0:1.0:0.0:0.0	.	121;121;121	B4E2Q2;Q6NZX9;Q96RU2	.;.;UBP28_HUMAN	I	121;121;121;49	ENSP00000003302:R121I;ENSP00000260188:R121I;ENSP00000445743:R121I	ENSP00000003302:R121I	R	-	2	0	USP28	113217607	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.631000	0.46502	2.529000	0.85273	0.650000	0.86243	AGA		0.393	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			5	67	1	0	2.0095e-06	0.001984	2.82727e-06	5	67				
DSCAML1	57453	broad.mit.edu	37	11	117389381	117389381	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:117389381G>C	ENST00000321322.6	-	7	1491	c.1490C>G	c.(1489-1491)cCc>cGc	p.P497R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P227R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	437	Ig-like C2-type 5.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTGACCGTGGGGGGCGGGGC	0.667																																							uc001prh.1		NA																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(1489-1491)CCC>CGC		Down syndrome cell adhesion molecule like 1							49.0	48.0	48.0					11																	117389381		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117389381G>C		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1490C>G	11.37:g.117389381G>C	ENSP00000315465:p.Pro497Arg					DSCAML1_uc001pri.1_Missense_Mutation_p.P301R	p.P497R	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	7	1492	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	437			Extracellular (Potential).|Ig-like C2-type 5.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.1490C>G	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285619	0.80803	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.73469	-0.75;-0.75	4.3	4.3	0.51218	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92450	0.7603	H	0.99425	4.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96044	0.9026	9	0.87932	D	0	.	16.9379	0.86208	0.0:0.0:1.0:0.0	.	227;437	G3V1B5;Q8TD84	.;DSCL1_HUMAN	R	227;497;204	ENSP00000434335:P227R;ENSP00000315465:P497R	ENSP00000315465:P497R	P	-	2	0	DSCAML1	116894591	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.657000	0.98554	2.203000	0.70933	0.555000	0.69702	CCC		0.667	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		6	35	0	0	0	0.001168	0	6	35				
KMT2A	4297	broad.mit.edu	37	11	118366490	118366490	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:118366490A>T	ENST00000389506.5	+	19	5430	c.5430A>T	c.(5428-5430)gaA>gaT	p.E1810D	KMT2A_ENST00000534358.1_Missense_Mutation_p.E1813D|KMT2A_ENST00000354520.4_Missense_Mutation_p.E1772D			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1810					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										AGCGAGAGGAAAACAGCCACA	0.473																																							uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(5428-5430)GAA>GAT		myeloid/lymphoid or mixed-lineage leukemia							120.0	122.0	122.0					11																	118366490		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118366490A>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5430A>T	11.37:g.118366490A>T	ENSP00000374157:p.Glu1810Asp					MLL_uc001ptb.2_Missense_Mutation_p.E1813D	p.E1810D	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	19	5453	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1810					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.5430A>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	14.51	2.556684	0.45487	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.82984	-1.66;-1.67;-1.59	5.66	-4.16	0.03869	.	0.107355	0.64402	N	0.000007	T	0.71082	0.3298	L	0.47716	1.5	0.54753	D	0.999987	B;B	0.15141	0.0;0.012	B;B	0.12156	0.002;0.007	T	0.50346	-0.8839	10	0.51188	T	0.08	.	7.3205	0.26526	0.2855:0.2461:0.4684:0.0	.	1813;1810	E9PQG7;Q03164	.;MLL1_HUMAN	D	1813;1810;1772;720	ENSP00000436786:E1813D;ENSP00000374157:E1810D;ENSP00000346516:E1772D	ENSP00000346516:E1772D	E	+	3	2	MLL	117871700	1.000000	0.71417	0.972000	0.41901	0.998000	0.95712	1.010000	0.29898	-0.513000	0.06496	0.477000	0.44152	GAA		0.473	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		5	93	0	0	0	0.000602	0	5	93				
TECTA	7007	broad.mit.edu	37	11	121028721	121028721	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:121028721G>T	ENST00000392793.1	+	14	4748	c.4477G>T	c.(4477-4479)Ggc>Tgc	p.G1493C	TECTA_ENST00000264037.2_Missense_Mutation_p.G1493C			O75443	TECTA_HUMAN	tectorin alpha	1493	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGCCGGCGGCGGCGTCTTCCG	0.667																																							uc010rzo.1		NA																	0				breast(6)|ovary(2)|skin(2)	10						c.(4477-4479)GGC>TGC		tectorin alpha precursor							37.0	32.0	34.0					11																	121028721		2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121028721G>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4477G>T	11.37:g.121028721G>T	ENSP00000376543:p.Gly1493Cys						p.G1493C	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	13	4477	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1493			VWFD 4.			Missense_Mutation	SNP	ENST00000392793.1	37	c.4477G>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019913	0.75275	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.60797	0.16;0.16	5.54	3.53	0.40419	von Willebrand factor, type D domain (3);	0.000000	0.85682	D	0.000000	T	0.64940	0.2644	L	0.29908	0.895	0.49798	D	0.99982	D	0.89917	1.0	D	0.97110	1.0	T	0.67154	-0.5742	10	0.46703	T	0.11	.	15.5257	0.75901	0.0:0.2616:0.7384:0.0	.	1493	O75443	TECTA_HUMAN	C	1493	ENSP00000376543:G1493C;ENSP00000264037:G1493C	ENSP00000264037:G1493C	G	+	1	0	TECTA	120533931	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.466000	0.73543	1.321000	0.45227	0.462000	0.41574	GGC		0.667	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		3	28	1	0	0.004672	0.004672	0.00515945	3	28				
SORL1	6653	broad.mit.edu	37	11	121385030	121385030	+	Splice_Site	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:121385030G>A	ENST00000260197.7	+	8	1340	c.1211G>A	c.(1210-1212)aGg>aAg	p.R404K	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	404					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACCTTGGTGAGGTAAGGAGAC	0.507																																							uc001pxx.2		NA																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(1210-1212)AGG>AAG		sortilin-related receptor containing LDLR class							67.0	59.0	62.0					11																	121385030		2203	4299	6502	SO:0001630	splice_region_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121385030G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1211+1G>A	11.37:g.121385030G>A							p.R404K	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	8	1291	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	404			Extracellular (Potential).		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.1211G>A	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806217	0.90623	.	.	ENSG00000137642	ENST00000260197	T	0.21932	1.98	5.51	5.51	0.81932	VPS10 (1);	0.129498	0.64402	D	0.000005	T	0.36524	0.0970	L	0.33485	1.01	0.80722	D	1	D	0.65815	0.995	D	0.72625	0.978	T	0.02288	-1.1182	10	0.25751	T	0.34	.	19.4277	0.94751	0.0:0.0:1.0:0.0	.	404	Q92673	SORL_HUMAN	K	404	ENSP00000260197:R404K	ENSP00000260197:R404K	R	+	2	0	SORL1	120890240	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.827000	0.99397	2.568000	0.86640	0.655000	0.94253	AGG		0.507	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	Missense_Mutation	3	7	0	0	0	0.009096	0	3	7				
ZNF202	7753	broad.mit.edu	37	11	123597077	123597077	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:123597077T>A	ENST00000529691.1	-	7	1794	c.1575A>T	c.(1573-1575)acA>acT	p.T525T	ZNF202_ENST00000530393.1_Silent_p.T525T|ZNF202_ENST00000336139.4_Silent_p.T525T			O95125	ZN202_HUMAN	zinc finger protein 202	525					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TTTGGTGTGTTGTTAACACAG	0.493																																							uc001pzd.1		NA																	0				ovary(1)	1						c.(1573-1575)ACA>ACT		zinc finger protein 202							102.0	101.0	102.0					11																	123597077		2202	4299	6501	SO:0001819	synonymous_variant	7753				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:123597077T>A	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.1575A>T	11.37:g.123597077T>A						ZNF202_uc001pzc.1_Silent_p.T301T|ZNF202_uc001pze.1_Silent_p.T525T|ZNF202_uc001pzf.1_Silent_p.T525T	p.T525T	NM_003455	NP_003446	O95125	ZN202_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)	9	1975	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	525			C2H2-type 4.		B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Silent	SNP	ENST00000529691.1	37	c.1575A>T	CCDS8443.1																																																																																				0.493	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455		25	53	0	0	0	0.004656	0	25	53				
OR10G8	219869	broad.mit.edu	37	11	123900990	123900990	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:123900990G>T	ENST00000431524.1	+	1	694	c.661G>T	c.(661-663)Gtc>Ttc	p.V221F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V221I(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTGTCCATCGTCTGTTCCAT	0.542																																							uc001pzp.1		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(1)|skin(1)	2						c.(661-663)GTC>TTC		olfactory receptor, family 10, subfamily G,							171.0	148.0	156.0					11																	123900990		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900990G>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.661G>T	11.37:g.123900990G>T	ENSP00000389072:p.Val221Phe						p.V221F	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	661	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	221			Cytoplasmic (Potential).		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.661G>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	3.863	-0.029487	0.07589	.	.	ENSG00000234560	ENST00000431524	T	0.00034	8.87	2.91	-0.148	0.13424	GPCR, rhodopsin-like superfamily (1);	0.317250	0.22424	N	0.060258	T	0.00178	0.0005	L	0.31294	0.92	0.09310	N	1	P	0.46912	0.886	P	0.60682	0.878	T	0.50651	-0.8803	10	0.66056	D	0.02	.	3.2637	0.06858	0.4226:0.0:0.2966:0.2808	.	221	Q8NGN5	O10G8_HUMAN	F	221	ENSP00000389072:V221F	ENSP00000389072:V221F	V	+	1	0	OR10G8	123406200	0.000000	0.05858	0.019000	0.16419	0.001000	0.01503	-1.743000	0.01834	-0.156000	0.11079	-1.011000	0.02470	GTC		0.542	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		19	65	1	0	2.94398e-08	0.007413	4.53123e-08	19	65				
KCNA5	3741	broad.mit.edu	37	12	5154245	5154245	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:5154245C>A	ENST00000252321.3	+	1	1161	c.932C>A	c.(931-933)aCg>aAg	p.T311K		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	311					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	TCTGGCCCTACGGTGGCACCG	0.711																																							uc001qni.2		NA																	0				ovary(2)|breast(2)	4						c.(931-933)ACG>AAG		potassium voltage-gated channel, shaker-related							38.0	41.0	40.0					12																	5154245		2203	4296	6499	SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154245C>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.932C>A	12.37:g.5154245C>A	ENSP00000252321:p.Thr311Lys						p.T311K	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	1161	+			311					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.932C>A	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	6.417	0.445112	0.12164	.	.	ENSG00000130037	ENST00000252321	D	0.97505	-4.41	4.77	4.77	0.60923	.	689.197000	0.00166	N	0.000000	D	0.94850	0.8336	L	0.29908	0.895	0.09310	N	1	B	0.20671	0.047	B	0.22601	0.04	T	0.83058	-0.0149	10	0.27082	T	0.32	.	12.1143	0.53856	0.1712:0.8288:0.0:0.0	.	311	P22460	KCNA5_HUMAN	K	311	ENSP00000252321:T311K	ENSP00000252321:T311K	T	+	2	0	KCNA5	5024506	0.014000	0.17966	0.096000	0.21009	0.237000	0.25408	2.461000	0.45040	2.478000	0.83669	0.561000	0.74099	ACG		0.711	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		14	49	1	0	7.93312e-07	0.00245	1.13236e-06	14	49				
MLF2	8079	broad.mit.edu	37	12	6857982	6857982	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:6857982C>A	ENST00000203630.5	-	8	1370	c.726G>T	c.(724-726)caG>caT	p.Q242H	MLF2_ENST00000539187.1_Missense_Mutation_p.Q242H|MLF2_ENST00000564181.1_5'Flank|MLF2_ENST00000435120.1_Missense_Mutation_p.Q242H|MLF2_ENST00000542154.1_Missense_Mutation_p.Q242H			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	242					defense response (GO:0006952)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(2)|large_intestine(3)|lung(4)	9						AGCGGCGGGACTGTCGGGAAG	0.682																																							uc010sfi.1		NA																	0				large_intestine(1)	1						c.(724-726)CAG>CAT		myeloid leukemia factor 2							44.0	53.0	50.0					12																	6857982		2177	4254	6431	SO:0001583	missense	8079				defense response	cytoplasm|nucleus	protein binding	g.chr12:6857982C>A	U57342	CCDS8559.1	12p13.31	2014-09-11			ENSG00000089693	ENSG00000089693			7126	protein-coding gene	gene with protein product		601401				8661158	Standard	NM_005439		Approved	NTN4	uc010sfi.2	Q15773	OTTHUMG00000168717	ENST00000203630.5:c.726G>T	12.37:g.6857982C>A	ENSP00000203630:p.Gln242His					MLF2_uc001qqp.2_Missense_Mutation_p.Q242H|MLF2_uc009zey.1_Missense_Mutation_p.Q242H	p.Q242H	NM_005439	NP_005430	Q15773	MLF2_HUMAN			8	789	-			242						Missense_Mutation	SNP	ENST00000203630.5	37	c.726G>T	CCDS8559.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.121346	0.56613	.	.	ENSG00000089693	ENST00000435120;ENST00000203630;ENST00000542154;ENST00000539187	.	.	.	5.08	5.08	0.68730	.	0.209202	0.42821	D	0.000650	T	0.36496	0.0969	N	0.14661	0.345	0.37979	D	0.933521	D	0.56968	0.978	P	0.49140	0.601	T	0.24012	-1.0172	9	0.25751	T	0.34	.	11.9113	0.52741	0.0:0.9203:0.0:0.0797	.	242	Q15773	MLF2_HUMAN	H	242	.	ENSP00000203630:Q242H	Q	-	3	2	MLF2	6728243	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	4.478000	0.60230	2.365000	0.80145	0.491000	0.48974	CAG		0.682	MLF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400733.2			13	48	1	0	2.31682e-05	0.003163	3.07124e-05	13	48				
CLSTN3	9746	broad.mit.edu	37	12	7286289	7286289	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:7286289A>G	ENST00000266546.6	+	3	758	c.308A>G	c.(307-309)aAg>aGg	p.K103R	CLSTN3_ENST00000537408.1_Missense_Mutation_p.K115R|RP11-273B20.1_ENST00000538062.1_RNA	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	103	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GAGGCCCAGAAGGAACACACC	0.622																																							uc001qsr.2		NA																	0				large_intestine(1)	1						c.(307-309)AAG>AGG		calsyntenin 3 precursor							66.0	60.0	62.0					12																	7286289		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7286289A>G	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.308A>G	12.37:g.7286289A>G	ENSP00000266546:p.Lys103Arg					CLSTN3_uc001qss.2_Missense_Mutation_p.K115R	p.K103R	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN			3	586	+			103			Extracellular (Potential).|Cadherin 1.		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.308A>G	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	A	14.42	2.529792	0.45073	.	.	ENSG00000139182	ENST00000541953;ENST00000266546;ENST00000545663;ENST00000535452;ENST00000534830;ENST00000539982;ENST00000537408	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	4.81	4.81	0.61882	Cadherin (3);Cadherin-like (1);	0.057359	0.64402	D	0.000004	T	0.38931	0.1059	L	0.44542	1.39	0.45930	D	0.998761	B;B	0.23854	0.006;0.092	B;B	0.27715	0.003;0.082	T	0.24404	-1.0161	10	0.33940	T	0.23	-24.7965	9.0013	0.36083	0.9166:0.0:0.0834:0.0	.	115;103	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	R	103;103;66;66;66;86;115	ENSP00000443959:K103R;ENSP00000266546:K103R;ENSP00000442612:K66R;ENSP00000443468:K66R;ENSP00000443490:K66R;ENSP00000442801:K86R;ENSP00000440679:K115R	ENSP00000266546:K103R	K	+	2	0	CLSTN3	7177556	1.000000	0.71417	0.996000	0.52242	0.936000	0.57629	4.295000	0.59049	1.790000	0.52503	0.459000	0.35465	AAG		0.622	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		16	50	0	0	0	0.00499	0	16	50				
CLEC4D	338339	broad.mit.edu	37	12	8670779	8670779	+	Silent	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:8670779A>C	ENST00000299665.2	+	3	334	c.141A>C	c.(139-141)tcA>tcC	p.S47S		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	47					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					ACAACTTTTCACGCTGTAAGA	0.398																																							uc001qun.2		NA																	0					0						c.(139-141)TCA>TCC		C-type lectin domain family 4, member D							63.0	56.0	59.0					12																	8670779		2203	4300	6503	SO:0001819	synonymous_variant	338339				innate immune response	integral to membrane	sugar binding	g.chr12:8670779A>C	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.141A>C	12.37:g.8670779A>C							p.S47S	NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN			3	334	+	Lung SC(5;0.184)		47			Extracellular (Potential).		Q8N5J5	Silent	SNP	ENST00000299665.2	37	c.141A>C	CCDS8593.1																																																																																				0.398	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		6	6	0	0	0	0.001984	0	6	6				
A2ML1	144568	broad.mit.edu	37	12	9004398	9004398	+	Silent	SNP	G	G	A	rs375611706		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:9004398G>A	ENST00000299698.7	+	19	2433	c.2253G>A	c.(2251-2253)gcG>gcA	p.A751A	A2ML1_ENST00000539547.1_Silent_p.A260A	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GGAAGGAGGCGGTCCACGTCA	0.527																																							uc001quz.3		NA																	0				ovary(2)|skin(1)	3						c.(2251-2253)GCG>GCA		alpha-2-macroglobulin-like 1 precursor		A		0,4118		0,0,2059	73.0	73.0	73.0		2253	-4.6	0.2	12		73	1,8403		0,1,4201	no	coding-synonymous	A2ML1	NM_144670.3		0,1,6260	AA,AG,GG		0.0119,0.0,0.0080		751/1455	9004398	1,12521	2059	4202	6261	SO:0001819	synonymous_variant	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9004398G>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.2253G>A	12.37:g.9004398G>A						A2ML1_uc001qva.1_Silent_p.A331A|A2ML1_uc010sgm.1_Silent_p.A251A	p.A751A	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			19	2351	+			595						Silent	SNP	ENST00000299698.7	37	c.2253G>A	CCDS8596.2																																																																																				0.527	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		6	28	0	0	0	0.001168	0	6	28				
PZP	5858	broad.mit.edu	37	12	9356398	9356398	+	Missense_Mutation	SNP	G	G	A	rs150991757	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:9356398G>A	ENST00000261336.2	-	2	261	c.233C>T	c.(232-234)gCg>gTg	p.A78V	PZP_ENST00000381997.2_5'Flank	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	78					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTCCTTCTCCGCCACCAGGTC	0.512													G|||	18	0.00359425	0.0113	0.0014	5008	,	,		-128	0.001		0.001	False		,,,				2504	0.0				Melanoma(125;1402 1695 4685 34487 38571)	Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(232-234)GCG>GTG		pregnancy-zone protein precursor		G	VAL/ALA	34,4372	39.2+/-71.8	0,34,2169	107.0	93.0	98.0		233	-2.1	0.0	12	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PZP	NM_002864.2	64	0,35,6468	AA,AG,GG		0.0116,0.7717,0.2691	benign	78/1483	9356398	35,12971	2203	4300	6503	SO:0001583	missense	5858							g.chr12:9356398G>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.233C>T	12.37:g.9356398G>A	ENSP00000261336:p.Ala78Val					PZP_uc009zgl.2_5'UTR	p.A78V	NM_002864	NP_002855					2	262	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.233C>T	CCDS8600.1	7	0.003205128205128205	5	0.01016260162601626	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	1.750	-0.489373	0.04352	0.007717	1.16E-4	ENSG00000126838	ENST00000261336	T	0.09350	2.99	2.08	-2.13	0.07144	.	2.564170	0.03124	U	0.164256	T	0.04497	0.0123	L	0.28400	0.85	0.09310	N	1	B	0.19935	0.04	B	0.15870	0.014	T	0.28808	-1.0032	10	0.12103	T	0.63	.	2.3303	0.04234	0.4706:0.0:0.2926:0.2368	.	78	P20742	PZP_HUMAN	V	78	ENSP00000261336:A78V	ENSP00000261336:A78V	A	-	2	0	PZP	9247665	0.000000	0.05858	0.002000	0.10522	0.918000	0.54935	-0.255000	0.08769	-0.591000	0.05859	0.467000	0.42956	GCG		0.512	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		19	61	0	0	0	0.007413	0	19	61				
DDX12P	440081	broad.mit.edu	37	12	9572653	9572653	+	IGR	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:9572653C>T								RP13-735L24.1 (22440 upstream) : SNORA75 (25000 downstream)																							GCCCCTGTCACGGGGCCTCTC	0.567																																							uc010sgs.1		NA																	0					0						c.(2296-2298)GTG>ATG		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12							46.0	45.0	45.0					12																	9572653		692	1591	2283	SO:0001628	intergenic_variant	440081							g.chr12:9572653C>T																													12.37:g.9572653C>T						DDX12_uc001qvx.3_Translation_Start_Site|DDX12_uc001qvy.1_Translation_Start_Site	p.V766M	NM_004400	NP_004391					23	2491	-									Missense_Mutation	SNP		37	c.2296G>A																																																																																				0	0.567									14	40	0	0	0	0.003163	0	14	40				
DDX12P	440081	broad.mit.edu	37	12	9572801	9572801	+	IGR	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:9572801C>T								RP13-735L24.1 (22588 upstream) : SNORA75 (24852 downstream)														p.A751A(2)									ACCTGGAATACGCCAGCAGCA	0.557																																							uc010sgs.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(2251-2253)GCG>GCA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12							23.0	9.0	13.0					12																	9572801		688	1575	2263	SO:0001628	intergenic_variant	440081							g.chr12:9572801C>T																													12.37:g.9572801C>T						DDX12_uc001qvx.3_5'Flank|DDX12_uc001qvy.1_5'Flank	p.A751A	NM_004400	NP_004391					22	2448	-									Silent	SNP		37	c.2253G>A																																																																																				0	0.557									3	10	0	0	0	0.004672	0	3	10				
YBX3	8531	broad.mit.edu	37	12	10870707	10870707	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:10870707C>T	ENST00000228251.4	-	3	540	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	YBX3_ENST00000279550.7_Missense_Mutation_p.E114K	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	114	CSD.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										AATACATCTTCTTTGGTGTCA	0.353																																							uc001qyt.2		NA																	0				ovary(2)|lung(1)|large_intestine(1)	4						c.(340-342)GAA>AAA		cold shock domain protein A isoform a							119.0	103.0	109.0					12																	10870707		2202	4298	6500	SO:0001583	missense	8531				negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:10870707C>T	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.340G>A	12.37:g.10870707C>T	ENSP00000228251:p.Glu114Lys					CSDA_uc001qyu.2_Missense_Mutation_p.E114K	p.E114K	NM_003651	NP_003642	P16989	DBPA_HUMAN			3	583	-	Glioma(1;0.155)		114			CSD.		B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	ENST00000228251.4	37	c.340G>A	CCDS8630.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514635	0.85389	.	.	ENSG00000060138	ENST00000279550;ENST00000228251	T;T	0.30714	1.57;1.52	5.28	4.39	0.52855	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);Cold-shock conserved site (1);	0.000000	0.64402	D	0.000004	T	0.26448	0.0646	N	0.10809	0.05	0.51482	D	0.999924	P;P	0.37370	0.487;0.592	B;P	0.47528	0.203;0.549	T	0.22800	-1.0206	10	0.87932	D	0	.	11.9768	0.53096	0.0:0.9147:0.0:0.0853	.	114;114	P16989-2;P16989	.;DBPA_HUMAN	K	114	ENSP00000279550:E114K;ENSP00000228251:E114K	ENSP00000228251:E114K	E	-	1	0	CSDA	10761974	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.935000	0.75886	1.356000	0.45884	-0.251000	0.11542	GAA		0.353	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		11	26	0	0	0	0.013537	0	11	26				
FAR2	55711	broad.mit.edu	37	12	29460703	29460703	+	Silent	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:29460703A>C	ENST00000536681.3	+	5	904	c.658A>C	c.(658-660)Agg>Cgg	p.R220R	RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000547116.1_Silent_p.R123R|FAR2_ENST00000182377.4_Silent_p.R220R	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	220					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						GCAAGAGAGCAGGAACCTGAA	0.483																																							uc001ris.3		NA																	0					0						c.(658-660)AGG>CGG		fatty acyl CoA reductase 2							111.0	104.0	106.0					12																	29460703		2203	4300	6503	SO:0001819	synonymous_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29460703A>C	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.658A>C	12.37:g.29460703A>C						FAR2_uc001rit.2_Silent_p.R220R|FAR2_uc009zjm.2_Silent_p.R123R|uc001riu.1_Intron	p.R220R	NM_018099	NP_060569	Q96K12	FACR2_HUMAN			5	805	+			220					F8VV73|Q9H0D5|Q9NVW8	Silent	SNP	ENST00000536681.3	37	c.658A>C	CCDS8717.1																																																																																				0.483	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		25	49	0	0	0	0.00278	0	25	49				
FGD4	121512	broad.mit.edu	37	12	32735171	32735171	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:32735171G>C	ENST00000427716.2	+	4	794	c.370G>C	c.(370-372)Gat>Cat	p.D124H	FGD4_ENST00000531134.1_Missense_Mutation_p.D209H|FGD4_ENST00000534526.2_Missense_Mutation_p.D261H|FGD4_ENST00000546442.1_Missense_Mutation_p.D31H|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000525053.1_Missense_Mutation_p.D236H|FGD4_ENST00000472289.1_Missense_Mutation_p.D124H	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	124	Actin filament-binding. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ACCCTTGCTTGATACGCACAT	0.468																																							uc001rkz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(370-372)GAT>CAT		FYVE, RhoGEF and PH domain containing 4							155.0	128.0	137.0					12																	32735171		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32735171G>C	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.370G>C	12.37:g.32735171G>C	ENSP00000394487:p.Asp124His					FGD4_uc001rlc.2_Missense_Mutation_p.D209H|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Missense_Mutation_p.D236H|FGD4_uc001rlb.1_RNA|FGD4_uc001rkx.3_Missense_Mutation_p.D124H	p.D124H	NM_139241	NP_640334	Q96M96	FGD4_HUMAN			4	847	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		124			Actin filament-binding (By similarity).		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.370G>C	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202046	0.38905	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000472289;ENST00000427716;ENST00000546442;ENST00000525053;ENST00000395742	T;T;T;T;T	0.71222	-0.52;-0.51;-0.54;-0.55;-0.52	4.91	2.97	0.34412	.	0.656368	0.13360	N	0.393753	T	0.63522	0.2518	N	0.19112	0.55	0.09310	N	1	P;B;B;D	0.59767	0.641;0.412;0.412;0.986	B;B;B;P	0.55999	0.188;0.143;0.143;0.789	T	0.53429	-0.8440	10	0.66056	D	0.02	-7.4516	4.4618	0.11669	0.1255:0.1381:0.5956:0.1409	.	236;209;124;124	E9PJX4;B7Z493;Q96M96;E9PQT1	.;.;FGD4_HUMAN;.	H	261;209;124;124;31;236;105	ENSP00000449273:D261H;ENSP00000431323:D209H;ENSP00000394487:D124H;ENSP00000446695:D31H;ENSP00000433666:D236H	ENSP00000379089:D124H	D	+	1	0	FGD4	32626438	0.001000	0.12720	0.005000	0.12908	0.376000	0.30014	0.558000	0.23469	2.274000	0.75844	0.467000	0.42956	GAT		0.468	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		5	65	0	0	0	0.000602	0	5	65				
FGD4	121512	broad.mit.edu	37	12	32786555	32786555	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:32786555A>C	ENST00000427716.2	+	15	2258	c.1834A>C	c.(1834-1836)Aaa>Caa	p.K612Q	FGD4_ENST00000534526.2_Missense_Mutation_p.K749Q|FGD4_ENST00000531134.1_Missense_Mutation_p.K697Q|FGD4_ENST00000525053.1_Missense_Mutation_p.K724Q|FGD4_ENST00000266482.3_Missense_Mutation_p.K364Q|FGD4_ENST00000546442.1_Missense_Mutation_p.K519Q	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	612					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CAAAGTTTGTAAAGACTGTTA	0.299																																							uc001rkz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1834-1836)AAA>CAA		FYVE, RhoGEF and PH domain containing 4							83.0	83.0	83.0					12																	32786555		2203	4300	6503	SO:0001583	missense	121512				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr12:32786555A>C	AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.1834A>C	12.37:g.32786555A>C	ENSP00000394487:p.Lys612Gln					FGD4_uc001rlc.2_Missense_Mutation_p.K697Q|FGD4_uc001rky.2_Missense_Mutation_p.K364Q|FGD4_uc001rla.2_Missense_Mutation_p.K268Q|FGD4_uc010ske.1_Missense_Mutation_p.K724Q|FGD4_uc001rlb.1_RNA	p.K612Q	NM_139241	NP_640334	Q96M96	FGD4_HUMAN			15	2311	+	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		612			FYVE-type.		Q6ULS2|Q8TCP6	Missense_Mutation	SNP	ENST00000427716.2	37	c.1834A>C	CCDS8727.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.129380	0.56721	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000427716;ENST00000266482;ENST00000546442;ENST00000525053	T;T;T;T;T;T	0.72282	2.78;2.78;2.78;-0.64;2.78;2.78	5.48	4.3	0.51218	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.56097	D	0.000038	T	0.74145	0.3678	L	0.38175	1.15	0.80722	D	1	B;B;D;B	0.58620	0.221;0.221;0.983;0.058	B;B;D;B	0.66716	0.309;0.309;0.946;0.031	T	0.69363	-0.5165	10	0.23302	T	0.38	-20.0865	12.6481	0.56746	0.8617:0.1383:0.0:0.0	.	724;697;612;364	E9PJX4;B7Z493;Q96M96;G3XA97	.;.;FGD4_HUMAN;.	Q	749;697;612;364;519;724	ENSP00000449273:K749Q;ENSP00000431323:K697Q;ENSP00000394487:K612Q;ENSP00000266482:K364Q;ENSP00000446695:K519Q;ENSP00000433666:K724Q	ENSP00000266482:K364Q	K	+	1	0	FGD4	32677822	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	8.430000	0.90283	0.974000	0.38366	0.528000	0.53228	AAA		0.299	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268017.1	NM_139241		9	30	0	0	0	0.004482	0	9	30				
KIF21A	55605	broad.mit.edu	37	12	39703569	39703569	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:39703569C>A	ENST00000361418.5	-	33	4112		c.e33-1		KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000547745.1_Splice_Site|KIF21A_ENST00000395670.3_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CAAGTACGATCTAAAACAAAC	0.318																																							uc001rly.2		NA																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.e33-1		kinesin family member 21A							52.0	49.0	50.0					12																	39703569		2203	4300	6503	SO:0001630	splice_region_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39703569C>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.4097-1G>T	12.37:g.39703569C>A						KIF21A_uc001rlv.2_Splice_Site_p.D311_splice|KIF21A_uc001rlw.2_Splice_Site_p.D636_splice|KIF21A_uc001rlx.2_Splice_Site_p.D1353_splice|KIF21A_uc001rlz.2_Splice_Site_p.D1313_splice|KIF21A_uc010skl.1_Splice_Site_p.D1329_splice|KIF21A_uc001rlt.2_Splice_Site|KIF21A_uc001rlu.2_Splice_Site	p.D1366_splice	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			33	4243	-		Lung NSC(34;0.179)|all_lung(34;0.213)						A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Splice_Site	SNP	ENST00000361418.5	37	c.4097_splice	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467565	0.63625	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000552961;ENST00000544797;ENST00000361418;ENST00000541463	.	.	.	5.23	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0794	0.64912	0.0:0.9275:0.0:0.0725	.	.	.	.	.	-1	.	.	.	-	.	.	KIF21A	37989836	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	7.332000	0.79203	1.220000	0.43490	-0.196000	0.12772	.		0.318	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	Intron	7	14	1	0	0.000274275	0.004482	0.000331637	7	14				
ADAMTS20	80070	broad.mit.edu	37	12	43771344	43771344	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:43771344T>C	ENST00000389420.3	-	32	4818	c.4819A>G	c.(4819-4821)Agt>Ggt	p.S1607G		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1607	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGTCTGTAACTAAATCCACAG	0.358																																							uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(4819-4821)AGT>GGT		a disintegrin-like and metalloprotease with							88.0	86.0	87.0					12																	43771344		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43771344T>C	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4819A>G	12.37:g.43771344T>C	ENSP00000374071:p.Ser1607Gly						p.S1607G	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	32	4819	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1607			TSP type-1 14.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4819A>G	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	0.691	-0.794458	0.02862	.	.	ENSG00000173157	ENST00000389420	T	0.56275	0.47	5.08	1.49	0.22878	.	0.380778	0.22782	N	0.055711	T	0.26159	0.0638	N	0.25144	0.715	0.18873	N	0.999987	B	0.06786	0.001	B	0.04013	0.001	T	0.20874	-1.0262	10	0.02654	T	1	.	3.1534	0.06495	0.0:0.3669:0.2411:0.392	.	1607	P59510	ATS20_HUMAN	G	1607	ENSP00000374071:S1607G	ENSP00000374071:S1607G	S	-	1	0	ADAMTS20	42057611	0.609000	0.26975	0.178000	0.23040	0.833000	0.47200	1.489000	0.35562	0.459000	0.27016	0.533000	0.62120	AGT		0.358	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		6	22	0	0	0	0.001168	0	6	22				
GALNT6	11226	broad.mit.edu	37	12	51753114	51753114	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:51753114C>A	ENST00000543196.2	-	7	1375	c.1170G>T	c.(1168-1170)gtG>gtT	p.V390V	GALNT6_ENST00000356317.3_Silent_p.V390V			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	390	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CACACTGCCACACCTGATGTA	0.582																																							uc001ryk.2		NA																	0				ovary(2)	2						c.(1168-1170)GTG>GTT		polypeptide N-acetylgalactosaminyltransferase 6							70.0	68.0	68.0					12																	51753114		2203	4300	6503	SO:0001819	synonymous_variant	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51753114C>A	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1170G>T	12.37:g.51753114C>A						GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Silent_p.V390V|GALNT6_uc001ryj.1_5'UTR	p.V390V	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN			7	1395	-			390			Catalytic subdomain B.|Lumenal (Potential).		Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	ENST00000543196.2	37	c.1170G>T	CCDS8813.1																																																																																				0.582	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		17	61	1	0	1.15088e-07	0.004007	1.72506e-07	17	61				
KRT6B	3854	broad.mit.edu	37	12	52843418	52843418	+	Splice_Site	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:52843418C>T	ENST00000252252.3	-	5	960		c.e5-1			NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B						ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GGGACAGCTCCTGCAGAACAG	0.512																																							uc001sak.2		NA																	0				ovary(2)	2						c.e5-1		keratin 6B							116.0	108.0	111.0					12																	52843418		2203	4300	6503	SO:0001630	splice_region_variant	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52843418C>T	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.913-1G>A	12.37:g.52843418C>T							p.E305_splice	NM_005555	NP_005546	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	5	961	-								P48669	Splice_Site	SNP	ENST00000252252.3	37	c.913_splice	CCDS8828.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811460	0.50527	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	.	.	.	3.05	3.05	0.35203	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3938	0.74774	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT6B	51129685	1.000000	0.71417	0.799000	0.32177	0.669000	0.39330	7.476000	0.81055	2.042000	0.60477	0.298000	0.19748	.		0.512	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555	Intron	17	82	0	0	0	0.004007	0	17	82				
KRT5	3852	broad.mit.edu	37	12	52913586	52913586	+	Missense_Mutation	SNP	C	C	A	rs267607456		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:52913586C>A	ENST00000252242.4	-	1	885	c.495G>T	c.(493-495)agG>agT	p.R165S		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	165	Head.		R -> S (in DM-EBS). {ECO:0000269|PubMed:21623745}.		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTCCTCGGTCCTCACCCTCT	0.522																																							uc001san.2		NA																	0					0						c.(493-495)AGG>AGT		keratin 5							179.0	171.0	174.0					12																	52913586		2203	4300	6503	SO:0001583	missense	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913586C>A		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.495G>T	12.37:g.52913586C>A	ENSP00000252242:p.Arg165Ser					KRT5_uc009zmh.2_Missense_Mutation_p.R165S	p.R165S	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	658	-			165			Head.		Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	ENST00000252242.4	37	c.495G>T	CCDS8830.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.507464	0.44558	.	.	ENSG00000186081	ENST00000252242;ENST00000456000;ENST00000549420;ENST00000551275	D;T;T	0.95622	-3.76;-1.1;-1.1	5.53	4.64	0.57946	.	0.193484	0.35805	N	0.002966	D	0.97117	0.9058	M	0.80508	2.5	0.38841	D	0.95606	D	0.67145	0.996	D	0.65684	0.937	D	0.97917	1.0312	10	0.87932	D	0	.	11.1804	0.48625	0.0:0.8018:0.1281:0.0701	.	165	P13647	K2C5_HUMAN	S	165;130;55;130	ENSP00000252242:R165S;ENSP00000447209:R55S;ENSP00000448041:R130S	ENSP00000252242:R165S	R	-	3	2	KRT5	51199853	0.997000	0.39634	0.989000	0.46669	0.062000	0.15995	0.333000	0.19768	1.341000	0.45600	0.563000	0.77884	AGG		0.522	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			22	71	1	0	7.45023e-12	0.010504	1.31093e-11	22	71				
MAP3K12	7786	broad.mit.edu	37	12	53880347	53880347	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:53880347G>T	ENST00000267079.2	-	4	631	c.406C>A	c.(406-408)Cag>Aag	p.Q136K	MAP3K12_ENST00000547488.1_Missense_Mutation_p.Q169K|MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547035.1_Missense_Mutation_p.Q169K	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	136	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						ACAGCACCCTGGGCCCCTGAG	0.597																																							uc001sdm.1		NA																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(406-408)CAG>AAG		mitogen-activated protein kinase kinase kinase							51.0	48.0	49.0					12																	53880347		2203	4300	6503	SO:0001583	missense	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53880347G>T	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.406C>A	12.37:g.53880347G>T	ENSP00000267079:p.Gln136Lys					MAP3K12_uc001sdn.1_Missense_Mutation_p.Q169K	p.Q136K	NM_006301	NP_006292	Q12852	M3K12_HUMAN			4	504	-			136			ATP (By similarity).|Protein kinase.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	c.406C>A	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648636	0.87958	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	D;D;D	0.82344	-1.6;-1.6;-1.6	5.36	5.36	0.76844	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43260	D	0.000591	D	0.84415	0.5467	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.80764	0.99;0.994	T	0.81519	-0.0896	10	0.21540	T	0.41	.	18.2434	0.89977	0.0:0.0:1.0:0.0	.	169;136	G3V1Y2;Q12852	.;M3K12_HUMAN	K	136;169;169	ENSP00000267079:Q136K;ENSP00000449038:Q169K;ENSP00000448689:Q169K	ENSP00000267079:Q136K	Q	-	1	0	MAP3K12	52166614	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.858000	0.99539	2.688000	0.91661	0.561000	0.74099	CAG		0.597	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		3	16	1	0	6.4e-05	0.004672	8.171e-05	3	16				
GLI1	2735	broad.mit.edu	37	12	57865660	57865660	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:57865660A>T	ENST00000228682.2	+	12	3228	c.3137A>T	c.(3136-3138)cAg>cTg	p.Q1046L	GLI1_ENST00000546141.1_Missense_Mutation_p.Q1005L|GLI1_ENST00000543426.1_Missense_Mutation_p.Q918L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	1046	Asp/Glu-rich (acidic).				cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GACAACACTCAGCTGGACTTT	0.597																																					Pancreas(157;841 1936 10503 41495 50368)	Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2		NA																	0				skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(3136-3138)CAG>CTG		GLI family zinc finger 1 isoform 1							157.0	150.0	152.0					12																	57865660		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57865660A>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.3137A>T	12.37:g.57865660A>T	ENSP00000228682:p.Gln1046Leu					GLI1_uc009zpq.2_Missense_Mutation_p.Q918L	p.Q1046L	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	3215	+			1046			Asp/Glu-rich (acidic).		D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.3137A>T	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	A	17.55	3.416408	0.62511	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467;ENST00000443131	T;T;T;T	0.15603	2.51;2.41;2.49;2.49	5.04	5.04	0.67666	.	0.000000	0.43747	D	0.000533	T	0.26268	0.0641	M	0.64170	1.965	0.49051	D	0.999743	P	0.52842	0.956	P	0.47528	0.549	T	0.02698	-1.1122	10	0.72032	D	0.01	.	14.2029	0.65716	1.0:0.0:0.0:0.0	.	1046	P08151	GLI1_HUMAN	L	918;1046;1005;1005;514	ENSP00000437607:Q918L;ENSP00000228682:Q1046L;ENSP00000441006:Q1005L;ENSP00000434408:Q1005L	ENSP00000228682:Q1046L	Q	+	2	0	GLI1	56151927	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.794000	0.75135	2.254000	0.74563	0.533000	0.62120	CAG		0.597	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		29	98	0	0	0	0.009535	0	29	98				
SLC26A10	65012	broad.mit.edu	37	12	58019026	58019026	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:58019026G>T	ENST00000320442.4	+	12	1697	c.1386G>T	c.(1384-1386)gaG>gaT	p.E462D	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000379218.2_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	462	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.					integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TAGTTGCTGAGCCTGTCAGGG	0.552																																							uc001spe.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1384-1386)GAG>GAT		solute carrier family 26, member 10							251.0	223.0	232.0					12																	58019026		2203	4300	6503	SO:0001583	missense	65012					integral to membrane	antiporter activity	g.chr12:58019026G>T		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	ENST00000320442.4:c.1386G>T	12.37:g.58019026G>T	ENSP00000320217:p.Glu462Asp					SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_Intron	p.E462D	NM_133489	NP_597996	Q8NG04	S2610_HUMAN			12	1697	+	Melanoma(17;0.122)		462			STAS.		A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP	ENST00000320442.4	37	c.1386G>T	CCDS8949.2	.	.	.	.	.	.	.	.	.	.	.	18.56	3.649606	0.67358	.	.	ENSG00000135502	ENST00000320442	T	0.60299	0.2	4.64	2.81	0.32909	Sulphate transporter/antisigma-factor antagonist STAS (4);	.	.	.	.	T	0.49270	0.1547	N	0.11927	0.2	0.80722	D	1	D	0.60160	0.987	P	0.61592	0.891	T	0.32587	-0.9901	9	0.16420	T	0.52	.	8.8484	0.35184	0.1894:0.0:0.8106:0.0	.	462	Q8NG04	S2610_HUMAN	D	462	ENSP00000320217:E462D	ENSP00000320217:E462D	E	+	3	2	SLC26A10	56305293	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.931000	0.40134	1.321000	0.45227	0.655000	0.94253	GAG		0.552	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250311.2			16	92	1	0	2.32078e-09	0.003163	3.69606e-09	16	92				
AVPR1A	552	broad.mit.edu	37	12	63541318	63541318	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:63541318C>A	ENST00000299178.2	-	2	1183	c.1078G>T	c.(1078-1080)Gtt>Ttt	p.V360F		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	360					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	AAGCTTTGAACACAGTCTTGA	0.398																																							uc001sro.1		NA																	0					0						c.(1078-1080)GTT>TTT		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						174.0	165.0	168.0					12																	63541318		2203	4300	6503	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63541318C>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.1078G>T	12.37:g.63541318C>A	ENSP00000299178:p.Val360Phe						p.V360F	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	2	3052	-			360			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000299178.2	37	c.1078G>T	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	6.847	0.525537	0.13066	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.37411	1.2;1.2	5.82	0.735	0.18300	.	0.428510	0.25439	N	0.030669	T	0.34048	0.0884	M	0.80982	2.52	0.29180	N	0.876535	B	0.12013	0.005	B	0.10450	0.005	T	0.25117	-1.0141	9	.	.	.	-17.0803	5.4774	0.16704	0.0:0.4088:0.2383:0.3529	.	360	P37288	V1AR_HUMAN	F	141;360	ENSP00000449822:V141F;ENSP00000299178:V360F	.	V	-	1	0	AVPR1A	61827585	0.000000	0.05858	0.791000	0.31998	0.216000	0.24613	-0.559000	0.05971	0.072000	0.16694	-0.137000	0.14449	GTT		0.398	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			10	55	1	0	0.000442599	0.006214	0.000527744	10	55				
SRGAP1	57522	broad.mit.edu	37	12	64456799	64456799	+	Missense_Mutation	SNP	A	A	T	rs542720477		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:64456799A>T	ENST00000355086.3	+	7	1428	c.904A>T	c.(904-906)Att>Ttt	p.I302F	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.I262F|SRGAP1_ENST00000357825.3_Missense_Mutation_p.I302F	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	302	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTAGACATTATTGAGAATGC	0.453																																							uc010ssp.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(904-906)ATT>TTT		SLIT-ROBO Rho GTPase activating protein 1							120.0	109.0	113.0					12																	64456799		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64456799A>T	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.904A>T	12.37:g.64456799A>T	ENSP00000347198:p.Ile302Phe					SRGAP1_uc001srt.2_Missense_Mutation_p.I302F|SRGAP1_uc001srv.2_Missense_Mutation_p.I262F	p.I302F	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	7	960	+			302					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.904A>T	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.275843	0.59649	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.46451	0.87;0.87;2.46	4.65	4.65	0.58169	.	0.000000	0.34932	U	0.003564	T	0.52645	0.1747	M	0.67953	2.075	0.80722	D	1	P;P;P	0.47484	0.57;0.896;0.794	B;P;P	0.51135	0.339;0.66;0.66	T	0.53837	-0.8382	9	.	.	.	.	15.1411	0.72612	1.0:0.0:0.0:0.0	.	302;262;302	Q7Z6B7;G5EA48;Q7Z6B7-2	SRGP1_HUMAN;.;.	F	302;302;262	ENSP00000347198:I302F;ENSP00000350480:I302F;ENSP00000437948:I262F	.	I	+	1	0	SRGAP1	62743066	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.999000	0.57031	2.313000	0.78055	0.455000	0.32223	ATT		0.453	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			8	36	0	0	0	0.00308	0	8	36				
LGR5	8549	broad.mit.edu	37	12	71976302	71976302	+	Missense_Mutation	SNP	A	A	T	rs147607370	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:71976302A>T	ENST00000266674.5	+	17	1930	c.1619A>T	c.(1618-1620)cAg>cTg	p.Q540L	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Missense_Mutation_p.Q516L|LGR5_ENST00000536515.1_Missense_Mutation_p.Q468L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	540					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CATTCAGTGCAGTGTTCACCT	0.433																																							uc001swl.2		NA																	0				lung(4)|skin(3)|ovary(1)|pancreas(1)	9						c.(1618-1620)CAG>CTG		leucine-rich repeat-containing G protein-coupled							137.0	113.0	121.0					12																	71976302		2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71976302A>T	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1619A>T	12.37:g.71976302A>T	ENSP00000266674:p.Gln540Leu					LGR5_uc001swm.2_Missense_Mutation_p.Q516L|LGR5_uc001swn.1_RNA	p.Q540L	NM_003667	NP_003658	O75473	LGR5_HUMAN			17	1667	+			540			Extracellular (Potential).		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1619A>T	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.063534	0.55432	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	D;D;D	0.89050	-2.46;-2.46;-2.46	5.36	4.22	0.49857	.	0.097415	0.45126	D	0.000382	D	0.91620	0.7352	M	0.85462	2.755	0.53005	D	0.999968	P;P	0.40660	0.682;0.726	P;B	0.47299	0.543;0.342	D	0.91439	0.5172	10	0.72032	D	0.01	.	11.3895	0.49806	0.9287:0.0:0.0713:0.0	.	516;540	O75473-2;O75473	.;LGR5_HUMAN	L	540;540;468;516	ENSP00000266674:Q540L;ENSP00000443033:Q468L;ENSP00000441035:Q516L	ENSP00000266674:Q540L	Q	+	2	0	LGR5	70262569	1.000000	0.71417	0.909000	0.35828	0.210000	0.24377	6.575000	0.74018	0.976000	0.38417	0.528000	0.53228	CAG		0.433	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		10	41	0	0	0	0.010729	0	10	41				
TRHDE	29953	broad.mit.edu	37	12	73046831	73046831	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:73046831T>G	ENST00000261180.4	+	17	2840	c.2744T>G	c.(2743-2745)cTg>cGg	p.L915R		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	915					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GAGGTGGTGCTGGATCAAGAT	0.333																																							uc001sxa.2		NA																	0				ovary(2)|skin(1)	3						c.(2743-2745)CTG>CGG		thyrotropin-releasing hormone degrading enzyme							87.0	84.0	85.0					12																	73046831		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73046831T>G	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2744T>G	12.37:g.73046831T>G	ENSP00000261180:p.Leu915Arg						p.L915R	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			17	2774	+			915			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2744T>G	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	T	4.642	0.119328	0.08881	.	.	ENSG00000072657	ENST00000261180	T	0.04809	3.55	5.47	5.47	0.80525	.	0.068555	0.64402	D	0.000014	T	0.03827	0.0108	N	0.00471	-1.455	0.42286	D	0.99211	D	0.76494	0.999	D	0.72338	0.977	T	0.55879	-0.8071	10	0.02654	T	1	.	15.5533	0.76170	0.0:0.0:0.0:1.0	.	915	Q9UKU6	TRHDE_HUMAN	R	915	ENSP00000261180:L915R	ENSP00000261180:L915R	L	+	2	0	TRHDE	71333098	1.000000	0.71417	0.844000	0.33320	0.994000	0.84299	5.821000	0.69257	2.087000	0.62958	0.533000	0.62120	CTG		0.333	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		8	24	0	0	0	0.006214	0	8	24				
NAV3	89795	broad.mit.edu	37	12	78522583	78522583	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:78522583C>A	ENST00000397909.2	+	18	4551	c.4378C>A	c.(4378-4380)Cct>Act	p.P1460T	NAV3_ENST00000266692.7_Missense_Mutation_p.P1283T|NAV3_ENST00000228327.6_Missense_Mutation_p.P1460T|NAV3_ENST00000536525.2_Missense_Mutation_p.P1460T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1460	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAACCAGTCACCTCTGGTTTC	0.443										HNSCC(70;0.22)																													uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(4378-4380)CCT>ACT		neuron navigator 3							118.0	116.0	117.0					12																	78522583		1923	4136	6059	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78522583C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4378C>A	12.37:g.78522583C>A	ENSP00000381007:p.Pro1460Thr	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.P1460T|NAV3_uc010sub.1_Missense_Mutation_p.P946T|NAV3_uc009zsf.2_Missense_Mutation_p.P291T	p.P1460T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			18	4551	+			1460			Ser-rich.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4378C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.476848|4.476848	0.84640|0.84640	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	T;T;T;T;T|.	0.33865|.	1.41;1.39;1.43;1.53;2.4|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.000000|.	0.39985|.	U|.	0.001202|.	T|T	0.72882|0.72882	0.3516|0.3516	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.998;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.971;0.998;0.999;0.999|.	T|T	0.69383|0.69383	-0.5160|-0.5160	10|5	0.59425|.	D|.	0.04|.	-17.6273|-17.6273	19.55|19.55	0.95314|0.95314	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1460;1283;1460;1460|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	T|N	1460;1460;1460;1283;81;89|354	ENSP00000446132:P1460T;ENSP00000381007:P1460T;ENSP00000228327:P1460T;ENSP00000266692:P1283T;ENSP00000448303:P89T|.	ENSP00000228327:P1460T|.	P|T	+|+	1|2	0|0	NAV3|NAV3	77046714|77046714	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.960000|0.960000	0.62799|0.62799	7.594000|7.594000	0.82698|0.82698	2.633000|2.633000	0.89246|0.89246	0.460000|0.460000	0.39030|0.39030	CCT|ACC		0.443	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		11	43	1	0	1.58986e-06	0.008291	2.25067e-06	11	43				
ACSS3	79611	broad.mit.edu	37	12	81472166	81472166	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:81472166C>T	ENST00000548058.1	+	1	1177	c.267C>T	c.(265-267)ccC>ccT	p.P89P	ACSS3_ENST00000261206.3_Silent_p.P89P			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	89						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGTACAAGCCCTGGACCAAAA	0.602																																							uc001szl.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(265-267)CCC>CCT		acyl-CoA synthetase short-chain family member 3							45.0	43.0	44.0					12																	81472166		2027	4021	6048	SO:0001819	synonymous_variant	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81472166C>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.267C>T	12.37:g.81472166C>T						ACSS3_uc001szm.1_Silent_p.P89P	p.P89P	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			1	358	+			89					Q8NC66	Silent	SNP	ENST00000548058.1	37	c.267C>T	CCDS9022.1																																																																																				0.602	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		6	43	0	0	0	0.001168	0	6	43				
ACSS3	79611	broad.mit.edu	37	12	81568685	81568685	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:81568685G>T	ENST00000548058.1	+	8	2127	c.1217G>T	c.(1216-1218)gGg>gTg	p.G406V	ACSS3_ENST00000548324.1_Missense_Mutation_p.G88V|ACSS3_ENST00000261206.3_Missense_Mutation_p.G405V			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	406						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.G406fs*19(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CAGGACCCTGGGGCAGCTTTG	0.478																																							uc001szl.1		NA																	1	Deletion - Frameshift(1)		breast(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1216-1218)GGG>GTG		acyl-CoA synthetase short-chain family member 3							108.0	91.0	97.0					12																	81568685		2203	4300	6503	SO:0001583	missense	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81568685G>T		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1217G>T	12.37:g.81568685G>T	ENSP00000449535:p.Gly406Val					ACSS3_uc001szm.1_Missense_Mutation_p.G405V|ACSS3_uc001szn.1_Missense_Mutation_p.G88V	p.G406V	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			8	1308	+			406					Q8NC66	Missense_Mutation	SNP	ENST00000548058.1	37	c.1217G>T	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717185	0.68844	.	.	ENSG00000111058	ENST00000548058;ENST00000261206;ENST00000548324	T;T;T	0.50001	2.83;2.83;0.76	5.83	4.94	0.65067	AMP-dependent synthetase/ligase (1);	0.155510	0.56097	D	0.000021	T	0.49423	0.1556	M	0.63843	1.955	0.58432	D	0.99999	B;P	0.42584	0.005;0.784	B;P	0.48368	0.007;0.575	T	0.52071	-0.8624	10	0.52906	T	0.07	-14.9016	5.5907	0.17299	0.2601:0.0:0.7399:0.0	.	88;406	Q9H6R3-2;Q9H6R3	.;ACSS3_HUMAN	V	406;405;88	ENSP00000449535:G406V;ENSP00000261206:G405V;ENSP00000448965:G88V	ENSP00000261206:G405V	G	+	2	0	ACSS3	80092816	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.496000	0.60360	2.749000	0.94314	0.655000	0.94253	GGG		0.478	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		4	28	1	0	0.00909568	0.009096	0.00988598	4	28				
CDK17	5128	broad.mit.edu	37	12	96707213	96707213	+	Silent	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:96707213T>C	ENST00000261211.3	-	4	906	c.303A>G	c.(301-303)ctA>ctG	p.L101L	CDK17_ENST00000543119.2_Silent_p.L101L|CDK17_ENST00000542666.1_Silent_p.L48L	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	101					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						ATCCCATTTTTAGATTTTCAT	0.313																																							uc001tep.1		NA																	0				ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						c.(301-303)CTA>CTG		PCTAIRE protein kinase 2							64.0	59.0	61.0					12																	96707213		2203	4300	6503	SO:0001819	synonymous_variant	5128						ATP binding|cyclin-dependent protein kinase activity	g.chr12:96707213T>C		CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.303A>G	12.37:g.96707213T>C						CDK17_uc009ztk.2_Silent_p.L101L|CDK17_uc010svb.1_Silent_p.L48L	p.L101L	NM_002595	NP_002586	Q00537	CDK17_HUMAN			4	792	-			101					A8K1U6|B2RCQ2|Q8NEB8	Silent	SNP	ENST00000261211.3	37	c.303A>G	CCDS9061.1																																																																																				0.313	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595		5	20	0	0	0	0.000602	0	5	20				
APAF1	317	broad.mit.edu	37	12	99102470	99102470	+	Silent	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:99102470A>T	ENST00000551964.1	+	20	3565	c.2829A>T	c.(2827-2829)atA>atT	p.I943I	APAF1_ENST00000339433.3_Silent_p.I900I|APAF1_ENST00000550527.1_Silent_p.I932I|APAF1_ENST00000547045.1_Silent_p.I900I|APAF1_ENST00000359972.2_Silent_p.I889I|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000357310.1_Silent_p.I900I|APAF1_ENST00000549007.1_Silent_p.I900I|APAF1_ENST00000552268.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	943					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTGACCATATAAGACGTCTGC	0.328																																							uc001tfz.2		NA																	0				ovary(2)|lung(1)	3						c.(2827-2829)ATA>ATT		apoptotic peptidase activating factor 1 isoform	Adenosine triphosphate(DB00171)						98.0	102.0	101.0					12																	99102470		2203	4299	6502	SO:0001819	synonymous_variant	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99102470A>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2829A>T	12.37:g.99102470A>T						APAF1_uc001tfy.2_Silent_p.I932I|APAF1_uc001tga.2_Silent_p.I889I|APAF1_uc001tgb.2_Silent_p.I900I|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Silent_p.I309I	p.I943I	NM_181861	NP_863651	O14727	APAF_HUMAN			20	3406	+			943					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	ENST00000551964.1	37	c.2829A>T	CCDS9069.1																																																																																				0.328	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		5	14	0	0	0	0.000602	0	5	14				
TDG	6996	broad.mit.edu	37	12	104379432	104379432	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:104379432A>T	ENST00000392872.3	+	9	1250	c.1016A>T	c.(1015-1017)gAg>gTg	p.E339V	TDG_ENST00000266775.9_Missense_Mutation_p.E335V|AC078819.1_ENST00000401157.1_RNA|TDG_ENST00000542036.1_Missense_Mutation_p.E135V|TDG_ENST00000544861.1_Missense_Mutation_p.E196V	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	339					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|chromatin modification (GO:0016568)|depyrimidination (GO:0045008)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|embryo development (GO:0009790)|mismatch repair (GO:0006298)|negative regulation of chromatin binding (GO:0035562)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression, epigenetic (GO:0040029)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|double-stranded DNA binding (GO:0003690)|mismatched DNA binding (GO:0030983)|protein homodimerization activity (GO:0042803)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|RNA polymerase II transcription cofactor activity (GO:0001104)|structure-specific DNA binding (GO:0043566)	p.E339G(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		CCAGGTTATGAGGCAGCATAT	0.403								Base excision repair (BER), DNA glycosylases																															uc001tkg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)	6						c.(1015-1017)GAG>GTG	BER_DNA_glycosylases	thymine-DNA glycosylase							186.0	165.0	172.0					12																	104379432		2203	4300	6503	SO:0001583	missense	6996				depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	g.chr12:104379432A>T	U51166	CCDS9095.1	12q24.1	2014-05-14			ENSG00000139372	ENSG00000139372	3.2.2.29		11700	protein-coding gene	gene with protein product	"""G/T mismatch-specific thymine DNA glycosylase"""	601423				8662714, 9299239	Standard	NM_003211		Approved		uc001tkg.3	Q13569	OTTHUMG00000168418	ENST00000392872.3:c.1016A>T	12.37:g.104379432A>T	ENSP00000376611:p.Glu339Val					TDG_uc009zuk.2_Missense_Mutation_p.E335V|TDG_uc010swi.1_Missense_Mutation_p.E196V|TDG_uc010swj.1_Missense_Mutation_p.E127V	p.E339V	NM_003211	NP_003202	Q13569	TDG_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00114)	9	1239	+			339					Q8IUZ6|Q8IZM3	Missense_Mutation	SNP	ENST00000392872.3	37	c.1016A>T	CCDS9095.1	.	.	.	.	.	.	.	.	.	.	A	19.77	3.889472	0.72524	.	.	ENSG00000139372	ENST00000392872;ENST00000266775;ENST00000544861;ENST00000542036	T;T;T;T	0.33865	1.66;1.66;1.78;1.39	5.92	5.92	0.95590	.	0.096405	0.64402	D	0.000001	T	0.57814	0.2079	M	0.63843	1.955	0.80722	D	1	D;D;P	0.76494	0.999;0.974;0.954	D;P;P	0.68943	0.961;0.701;0.556	T	0.60136	-0.7322	10	0.72032	D	0.01	-27.1271	16.3742	0.83379	1.0:0.0:0.0:0.0	.	135;339;339	B4DI29;B2R848;Q13569	.;.;TDG_HUMAN	V	339;335;196;135	ENSP00000376611:E339V;ENSP00000266775:E335V;ENSP00000445899:E196V;ENSP00000439054:E135V	ENSP00000266775:E335V	E	+	2	0	TDG	102903562	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	9.324000	0.96373	2.263000	0.75096	0.533000	0.62120	GAG		0.403	TDG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399673.2			4	64	0	0	0	0.009096	0	4	64				
WSCD2	9671	broad.mit.edu	37	12	108589825	108589825	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:108589825G>T	ENST00000332082.4	+	3	1034	c.216G>T	c.(214-216)ctG>ctT	p.L72L	WSCD2_ENST00000549903.1_Silent_p.L72L|WSCD2_ENST00000261400.3_Silent_p.L72L|WSCD2_ENST00000547525.1_Silent_p.L72L			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	72						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						ACATGCATCTGGGCAGAGGTT	0.622																																							uc001tms.2		NA																	0				ovary(1)|large_intestine(1)|breast(1)	3						c.(214-216)CTG>CTT		WSC domain containing 2							145.0	145.0	145.0					12																	108589825		2067	4218	6285	SO:0001819	synonymous_variant	9671					integral to membrane		g.chr12:108589825G>T		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.216G>T	12.37:g.108589825G>T						WSCD2_uc001tmt.2_Silent_p.L72L	p.L72L	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			2	960	+			72					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	c.216G>T	CCDS41828.1																																																																																				0.622	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		15	106	1	0	1.5739e-10	0.004007	2.6671e-10	15	106				
TMEM119	338773	broad.mit.edu	37	12	108985845	108985845	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:108985845G>T	ENST00000392806.3	-	2	483	c.315C>A	c.(313-315)gcC>gcA	p.A105A		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	105					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						TCAGCAGAAAGGCCAGGGAGC	0.587																																							uc001tng.2		NA																	0				ovary(1)	1						c.(313-315)GCC>GCA		transmembrane protein 119 precursor							97.0	97.0	97.0					12																	108985845		2203	4300	6503	SO:0001819	synonymous_variant	338773					integral to membrane		g.chr12:108985845G>T	AK075501	CCDS9119.1	12q23.3	2014-02-12				ENSG00000183160			27884	protein-coding gene	gene with protein product						12975309	Standard	NM_181724		Approved		uc001tng.3	Q4V9L6		ENST00000392806.3:c.315C>A	12.37:g.108985845G>T						TMEM119_uc001tnf.2_RNA	p.A105A	NM_181724	NP_859075	Q4V9L6	TM119_HUMAN			2	478	-			105			Helical; (Potential).		Q6UXE5|Q8N2F5	Silent	SNP	ENST00000392806.3	37	c.315C>A	CCDS9119.1																																																																																				0.587	TMEM119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403900.1	NM_181724		9	40	1	0	1.12685e-05	0.004482	1.53216e-05	9	40				
EP400	57634	broad.mit.edu	37	12	132490798	132490798	+	Missense_Mutation	SNP	C	C	T	rs546391201		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr12:132490798C>T	ENST00000333577.4	+	15	3294	c.3185C>T	c.(3184-3186)gCg>gTg	p.A1062V	EP400_ENST00000332482.4_Missense_Mutation_p.A989V|EP400_ENST00000330386.6_Missense_Mutation_p.A1026V|EP400_ENST00000389562.2_Missense_Mutation_p.A1025V|EP400_ENST00000389561.2_Missense_Mutation_p.A1026V			Q96L91	EP400_HUMAN	E1A binding protein p400	1062	Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.A1025V(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GACGTCACTGCGGTGGCTGAA	0.552													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18714	0.0		0.0	False		,,,				2504	0.0						uc001ujn.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(3076-3078)GCG>GTG		E1A binding protein p400							90.0	80.0	83.0					12																	132490798		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132490798C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3185C>T	12.37:g.132490798C>T	ENSP00000333602:p.Ala1062Val					EP400_uc001ujl.2_Missense_Mutation_p.A1025V|EP400_uc001ujm.2_Missense_Mutation_p.A1026V	p.A1026V	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	13	3112	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1062			Interactions with RUVBL1 and RUVBL2.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.3077C>T		.	.	.	.	.	.	.	.	.	.	C	15.79	2.938171	0.52972	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.91894	-2.93;-2.91;-2.91;-2.91;-2.87	5.69	5.69	0.88448	.	0.107851	0.64402	D	0.000005	D	0.96210	0.8764	M	0.77103	2.36	0.50632	D	0.99988	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	D	0.96206	0.9149	10	0.72032	D	0.01	.	19.4007	0.94629	0.0:1.0:0.0:0.0	.	1026;1026;1025	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	V	1062;1026;1025;989;1026;1026;1026	ENSP00000333602:A1062V;ENSP00000374212:A1026V;ENSP00000374213:A1025V;ENSP00000331737:A989V;ENSP00000330620:A1026V	ENSP00000330620:A1026V	A	+	2	0	EP400	131056751	0.995000	0.38212	0.601000	0.28877	0.500000	0.33767	3.289000	0.51747	2.682000	0.91365	0.655000	0.94253	GCG		0.552	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		14	45	0	0	0	0.001855	0	14	45				
MTMR6	9107	broad.mit.edu	37	13	25831917	25831917	+	Missense_Mutation	SNP	C	C	A	rs371573306		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:25831917C>A	ENST00000381801.5	-	8	1687	c.926G>T	c.(925-927)cGc>cTc	p.R309L	MTMR6_ENST00000540661.1_Missense_Mutation_p.R309L|MTMR6_ENST00000482345.1_5'Flank	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	309	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TTTGATATGGCGAAGCCATCC	0.388																																							uc001uqf.3		NA																	0				ovary(2)|skin(2)	4						c.(925-927)CGC>CTC		myotubularin related protein 6							70.0	73.0	72.0					13																	25831917		2203	4299	6502	SO:0001583	missense	9107					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr13:25831917C>A	AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.926G>T	13.37:g.25831917C>A	ENSP00000371221:p.Arg309Leu					MTMR6_uc001uqe.1_Missense_Mutation_p.R309L	p.R309L	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)	8	1245	-		Lung SC(185;0.0225)|Breast(139;0.0351)	309			Myotubularin phosphatase.		B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	c.926G>T	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	C	34	5.390060	0.95988	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801	D;D	0.90133	-2.62;-2.62	5.49	5.49	0.81192	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.90947	0.7154	L	0.56769	1.78	0.80722	D	1	P;P	0.46621	0.881;0.566	P;B	0.44897	0.463;0.166	D	0.91889	0.5522	10	0.72032	D	0.01	.	19.3738	0.94501	0.0:1.0:0.0:0.0	.	309;309	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	L	309	ENSP00000443161:R309L;ENSP00000371221:R309L	ENSP00000371221:R309L	R	-	2	0	MTMR6	24729917	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.440000	0.80464	2.577000	0.86979	0.563000	0.77884	CGC		0.388	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685		3	41	1	0	2.56e-06	0.009096	3.57984e-06	3	41				
ATP8A2	51761	broad.mit.edu	37	13	26273477	26273477	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:26273477G>T	ENST00000381655.2	+	25	2520	c.2378G>T	c.(2377-2379)tGc>tTc	p.C793F	ATP8A2_ENST00000255283.8_Missense_Mutation_p.C753F|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	753					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCGGTCATATGCTGCAGGTAG	0.522																																							uc001uqk.2		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2377-2379)TGC>TTC		ATPase, aminophospholipid transporter-like,							61.0	60.0	60.0					13																	26273477		1940	4136	6076	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.chr13:26273477G>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.2378G>T	13.37:g.26273477G>T	ENSP00000371070:p.Cys793Phe					ATP8A2_uc010tdi.1_Missense_Mutation_p.C753F|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.C343F	p.C793F	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	25	2520	+		Breast(139;0.0201)|Lung SC(185;0.0225)	753			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2378G>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313446	0.81358	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.87729	-2.29;-2.29	5.88	5.88	0.94601	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95481	0.8532	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.95740	0.8782	10	0.87932	D	0	.	20.2228	0.98330	0.0:0.0:1.0:0.0	.	753;573;753	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	F	793;753;573	ENSP00000371070:C793F;ENSP00000255283:C753F	ENSP00000255283:C753F	C	+	2	0	ATP8A2	25171477	1.000000	0.71417	0.986000	0.45419	0.602000	0.36980	9.863000	0.99569	2.789000	0.95967	0.655000	0.94253	TGC		0.522	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		7	14	1	0	0.00198382	0.001984	0.00225226	7	14				
FRY	10129	broad.mit.edu	37	13	32835909	32835909	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:32835909G>T	ENST00000380250.3	+	52	8069	c.7573G>T	c.(7573-7575)Gag>Tag	p.E2525*	FRY_ENST00000542859.1_5'Flank	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2525						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATCATCCGAGGAGGAGGACCT	0.493																																							uc001utx.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(7573-7575)GAG>TAG		furry homolog							55.0	59.0	58.0					13																	32835909		1982	4170	6152	SO:0001587	stop_gained	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32835909G>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.7573G>T	13.37:g.32835909G>T	ENSP00000369600:p.Glu2525*					FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Nonsense_Mutation_p.E80*|FRY_uc001utz.2_Nonsense_Mutation_p.E50*|FRY_uc010tdx.1_5'Flank	p.E2525*	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)	52	8069	+		Lung SC(185;0.0271)	2525					Q9Y3N6	Nonsense_Mutation	SNP	ENST00000380250.3	37	c.7573G>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	53	20.600817	0.99932	.	.	ENSG00000073910	ENST00000380250;ENST00000380235	.	.	.	5.68	5.68	0.88126	.	0.045384	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.7964	0.96487	0.0:0.0:1.0:0.0	.	.	.	.	X	2525;169	.	ENSP00000369567:E169X	E	+	1	0	FRY	31733909	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.702000	0.92279	0.655000	0.94253	GAG		0.493	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		4	33	1	0	0.00024832	0.009096	0.000303453	4	33				
POSTN	10631	broad.mit.edu	37	13	38154116	38154116	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:38154116G>C	ENST00000379747.4	-	12	1659	c.1542C>G	c.(1540-1542)agC>agG	p.S514R	POSTN_ENST00000379743.4_Missense_Mutation_p.S514R|POSTN_ENST00000379742.4_Missense_Mutation_p.S514R|POSTN_ENST00000379749.4_Missense_Mutation_p.S514R|POSTN_ENST00000541179.1_Missense_Mutation_p.S514R|POSTN_ENST00000541481.1_Missense_Mutation_p.S514R	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	514	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				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)			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)		CTTCAAGTAGGCTGAGGAAGG	0.398																																							uc001uwo.3		NA																	0				ovary(2)	2						c.(1540-1542)AGC>AGG		periostin, osteoblast specific factor isoform 1							161.0	144.0	149.0					13																	38154116		2203	4300	6503	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38154116G>C	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.1542C>G	13.37:g.38154116G>C	ENSP00000369071:p.Ser514Arg					POSTN_uc010tet.1_Missense_Mutation_p.S42R|POSTN_uc001uwp.3_Missense_Mutation_p.S514R|POSTN_uc001uwr.2_Missense_Mutation_p.S514R|POSTN_uc001uwq.2_Missense_Mutation_p.S514R|POSTN_uc010teu.1_Missense_Mutation_p.S514R|POSTN_uc010tev.1_Missense_Mutation_p.S514R|POSTN_uc010tew.1_Missense_Mutation_p.S514R|POSTN_uc010tex.1_Missense_Mutation_p.S429R	p.S514R	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)	12	1660	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	514			FAS1 4.		B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.1542C>G	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408295	0.42715	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	5.32	3.6	0.41247	FAS1 domain (4);	0.161723	0.64402	D	0.000001	D	0.90532	0.7033	L	0.52364	1.645	0.40204	D	0.977555	P;P;D;P;P;B;D	0.53885	0.772;0.734;0.963;0.604;0.804;0.292;0.963	P;P;P;B;B;B;P	0.56216	0.614;0.479;0.794;0.283;0.395;0.13;0.794	D	0.87273	0.2287	10	0.25751	T	0.34	-17.2479	10.1463	0.42767	0.2352:0.0:0.7648:0.0	.	514;514;514;514;514;514;514	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	R	514	ENSP00000437959:S514R;ENSP00000369073:S514R;ENSP00000369071:S514R;ENSP00000369067:S514R;ENSP00000369066:S514R;ENSP00000437953:S514R	ENSP00000369066:S514R	S	-	3	2	POSTN	37052116	1.000000	0.71417	0.990000	0.47175	0.648000	0.38561	2.323000	0.43823	0.745000	0.32763	-0.229000	0.12294	AGC		0.398	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		5	37	0	0	0	0.000602	0	5	37				
FREM2	341640	broad.mit.edu	37	13	39265078	39265079	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:39265078_39265079GG>TA	ENST00000280481.7	+	1	3813_3814	c.3597_3598GG>TA	c.(3595-3600)atGGtg>atTAtg	p.1199_1200MV>IM		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1199					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGAATTTATGGTGATGGAAGG	0.411																																							uc001uwv.2		NA																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(3595-3600)ATGGTG>ATTATG		FRAS1-related extracellular matrix protein 2																																				SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39265078_39265079GG>TA	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	Exception_encountered	13.37:g.39265078_39265079delinsTA	ENSP00000280481:p.M1199_V1200delinsIM						p.1199_1200MV>IM	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3906_3907	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	1199_1200			CSPG 8.|Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	DNP	ENST00000280481.7	37	c.3597_3598GG>TA	CCDS31960.1																																																																																				0.411	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		17	95	0	0	0	0.004672	0	17	95				
SUGT1	10910	broad.mit.edu	37	13	53254252	53254252	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:53254252G>T	ENST00000343788.6	+	13	1040	c.958G>T	c.(958-960)Ggt>Tgt	p.G320C	SUGT1_ENST00000310528.8_Missense_Mutation_p.G288C|SUGT1_ENST00000535397.1_Missense_Mutation_p.G232C	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	320	SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.				innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		CTATTCAGATGGTTCTGATGA	0.318																																							uc001vhc.2		NA																	0					0						c.(958-960)GGT>TGT		suppressor of G2 allele of SKP1 isoform a							102.0	109.0	106.0					13																	53254252		2203	4300	6503	SO:0001583	missense	10910				mitosis	kinetochore|ubiquitin ligase complex	binding	g.chr13:53254252G>T	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.958G>T	13.37:g.53254252G>T	ENSP00000367208:p.Gly320Cys					SUGT1_uc001vha.2_RNA|SUGT1_uc001vhb.2_Missense_Mutation_p.G288C|SUGT1_uc010thb.1_Missense_Mutation_p.G232C|SUGT1_uc001vhd.2_Missense_Mutation_p.G177C	p.G320C	NM_001130912	NP_001124384	Q9Y2Z0	SUGT1_HUMAN		GBM - Glioblastoma multiforme(99;3.25e-08)	13	1183	+		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	320			SGS.		A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	ENST00000343788.6	37	c.958G>T	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367032	0.82463	.	.	ENSG00000165416	ENST00000343788;ENST00000535397;ENST00000310528	T;T	0.27104	1.69;1.76	5.22	5.22	0.72569	SGS (2);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.57154	0.2034	M	0.84219	2.685	0.80722	D	1	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	D;D;D;D	0.97110	0.94;1.0;1.0;1.0	T	0.62779	-0.6782	10	0.72032	D	0.01	-12.9654	19.149	0.93481	0.0:0.0:1.0:0.0	.	232;232;320;288	F5H5A9;B4DYC6;Q9Y2Z0;Q9Y2Z0-2	.;.;SUGT1_HUMAN;.	C	320;232;288	ENSP00000367208:G320C;ENSP00000308067:G288C	ENSP00000308067:G288C	G	+	1	0	SUGT1	52152253	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	2.592000	0.87571	0.467000	0.42956	GGT		0.318	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2			12	91	1	0	4.36969e-10	0.001855	7.20947e-10	12	91				
PCDH8	5100	broad.mit.edu	37	13	53420780	53420780	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:53420780G>T	ENST00000377942.3	-	1	1995	c.1792C>A	c.(1792-1794)Cgc>Agc	p.R598S	PCDH8_ENST00000338862.4_Missense_Mutation_p.R598S	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	598	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TCCAGCACGCGCACTTGCACT	0.657																																					GBM(36;25 841 9273 49207)	GBM(36;25 841 9273 49207)	uc001vhi.2		NA																	0				breast(1)	1						c.(1792-1794)CGC>AGC		protocadherin 8 isoform 1 precursor							15.0	16.0	16.0					13																	53420780		2191	4292	6483	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53420780G>T	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1792C>A	13.37:g.53420780G>T	ENSP00000367177:p.Arg598Ser					PCDH8_uc001vhj.2_Missense_Mutation_p.R598S	p.R598S	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	1	1995	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	598			Extracellular (Potential).|Cadherin 5.		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.1792C>A	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	7.907	0.735613	0.15574	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000448969	T;T	0.49432	0.78;0.78	3.9	2.1	0.27182	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.38897	N	0.001522	T	0.47173	0.1431	N	0.16790	0.44	0.36347	D	0.859861	P;D	0.57899	0.952;0.981	P;P	0.61397	0.643;0.888	T	0.57376	-0.7822	10	0.72032	D	0.01	.	12.2791	0.54753	0.0:0.0:0.4233:0.5767	.	598;598	O95206-2;O95206	.;PCDH8_HUMAN	S	598;598;441	ENSP00000367177:R598S;ENSP00000341350:R598S	ENSP00000341350:R598S	R	-	1	0	PCDH8	52318781	0.889000	0.30405	0.989000	0.46669	0.883000	0.51084	1.021000	0.30040	0.293000	0.22520	-0.428000	0.05917	CGC		0.657	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		5	5	1	0	0.000602214	0.000602	0.000707037	5	5				
KLHL1	57626	broad.mit.edu	37	13	70681342	70681342	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:70681342C>G	ENST00000377844.4	-	1	1249	c.490G>C	c.(490-492)Gga>Cga	p.G164R	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_Missense_Mutation_p.G32R|ATXN8OS_ENST00000424524.1_RNA	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	164					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)			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)		TACCTGTGTCCACATCCTTCA	0.512																																							uc001vip.2		NA																	0					0						c.(490-492)GGA>CGA		kelch-like 1 protein							122.0	101.0	108.0					13																	70681342		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70681342C>G	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.490G>C	13.37:g.70681342C>G	ENSP00000367075:p.Gly164Arg					KLHL1_uc010thm.1_Missense_Mutation_p.G164R|ATXN8OS_uc010aej.1_5'Flank	p.G164R	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	1	1284	-		Breast(118;0.000162)	164					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.490G>C	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.429524	0.43122	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.71222	-0.55;-0.4	5.5	5.5	0.81552	.	0.632053	0.14228	N	0.332943	T	0.77425	0.4128	L	0.36672	1.1	0.30475	N	0.772968	D;B	0.89917	1.0;0.001	D;B	0.83275	0.996;0.001	T	0.70051	-0.4978	10	0.16896	T	0.51	.	16.5583	0.84512	0.0:1.0:0.0:0.0	.	164;164	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	R	164;32	ENSP00000367075:G164R;ENSP00000439602:G32R	ENSP00000367075:G164R	G	-	1	0	KLHL1	69579343	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.921000	0.63397	2.573000	0.86826	0.655000	0.94253	GGA		0.512	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		22	48	0	0	0	0.014323	0	22	48				
UGGT2	55757	broad.mit.edu	37	13	96638604	96638604	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:96638604G>A	ENST00000376747.3	-	9	1084	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000397618.3_Silent_p.N338N|UGGT2_ENST00000376714.3_3'UTR	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	338					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTATGGGGAAGTTCTGTGAAA	0.303																																							uc001vmt.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1012-1014)AAC>AAT		UDP-glucose ceramide glucosyltransferase-like 2							82.0	83.0	83.0					13																	96638604		2203	4296	6499	SO:0001819	synonymous_variant	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96638604G>A	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1014C>T	13.37:g.96638604G>A						UGGT2_uc010afo.2_RNA|UGGT2_uc001vmv.2_Silent_p.N338N|UGGT2_uc010afp.2_Silent_p.N364N	p.N338N	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			9	1184	-			338					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Silent	SNP	ENST00000376747.3	37	c.1014C>T	CCDS9480.1																																																																																				0.303	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		5	24	0	0	0	0.001168	0	5	24				
HS6ST3	266722	broad.mit.edu	37	13	97485064	97485064	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:97485064A>T	ENST00000376705.2	+	2	1052	c.1028A>T	c.(1027-1029)aAc>aTc	p.N343I		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	343					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AGTGCAAAGAACAACCTGAAG	0.488																																							uc001vmw.2		NA																	0				ovary(1)|skin(1)	2						c.(1027-1029)AAC>ATC		heparan sulfate 6-O-sulfotransferase 3							105.0	108.0	107.0					13																	97485064		2203	4300	6503	SO:0001583	missense	266722					integral to membrane	sulfotransferase activity	g.chr13:97485064A>T	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.1028A>T	13.37:g.97485064A>T	ENSP00000365895:p.Asn343Ile						p.N343I	NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN			2	1052	+	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		343			Lumenal (Potential).		Q5W0L0|Q68CW6	Missense_Mutation	SNP	ENST00000376705.2	37	c.1028A>T	CCDS9481.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.851331	0.51270	.	.	ENSG00000185352	ENST00000376705	T	0.72725	-0.68	5.82	0.488	0.16848	.	0.332419	0.33732	N	0.004606	T	0.57213	0.2038	N	0.19112	0.55	0.41203	D	0.986387	P	0.48589	0.912	P	0.49451	0.611	T	0.52917	-0.8511	10	0.49607	T	0.09	-9.5557	5.9212	0.19084	0.5985:0.2605:0.141:0.0	.	343	Q8IZP7	H6ST3_HUMAN	I	343	ENSP00000365895:N343I	ENSP00000365895:N343I	N	+	2	0	HS6ST3	96283065	1.000000	0.71417	0.640000	0.29408	0.987000	0.75469	1.133000	0.31430	-0.122000	0.11766	0.533000	0.62120	AAC		0.488	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		9	51	0	0	0	0.008291	0	9	51				
HS6ST3	266722	broad.mit.edu	37	13	97485066	97485066	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr13:97485066A>T	ENST00000376705.2	+	2	1054	c.1030A>T	c.(1030-1032)Aac>Tac	p.N344Y		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	344					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TGCAAAGAACAACCTGAAGAA	0.488																																							uc001vmw.2		NA																	0				ovary(1)|skin(1)	2						c.(1030-1032)AAC>TAC		heparan sulfate 6-O-sulfotransferase 3							105.0	108.0	107.0					13																	97485066		2203	4300	6503	SO:0001583	missense	266722					integral to membrane	sulfotransferase activity	g.chr13:97485066A>T	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.1030A>T	13.37:g.97485066A>T	ENSP00000365895:p.Asn344Tyr						p.N344Y	NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN			2	1054	+	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		344			Lumenal (Potential).		Q5W0L0|Q68CW6	Missense_Mutation	SNP	ENST00000376705.2	37	c.1030A>T	CCDS9481.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.237837	0.79800	.	.	ENSG00000185352	ENST00000376705	T	0.75938	-0.98	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.88808	0.6537	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91037	0.4868	10	0.87932	D	0	-9.5301	16.1698	0.81801	1.0:0.0:0.0:0.0	.	344	Q8IZP7	H6ST3_HUMAN	Y	344	ENSP00000365895:N344Y	ENSP00000365895:N344Y	N	+	1	0	HS6ST3	96283067	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.335000	0.96500	2.207000	0.71202	0.533000	0.62120	AAC		0.488	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		9	51	0	0	0	0.008291	0	9	51				
OR4Q3	441669	broad.mit.edu	37	14	20215674	20215674	+	Missense_Mutation	SNP	C	C	A	rs4494468	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:20215674C>A	ENST00000331723.1	+	1	88	c.88C>A	c.(88-90)Cta>Ata	p.L30I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTTCTTACTATTTTTGTT	0.378																																							uc010tkt.1		NA																	0				breast(3)	3						c.(88-90)CTA>ATA		olfactory receptor, family 4, subfamily Q,							164.0	167.0	166.0					14																	20215674		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215674C>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.88C>A	14.37:g.20215674C>A	ENSP00000330049:p.Leu30Ile						p.L30I	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	88	+	all_cancers(95;0.00108)		30			Helical; Name=1; (Potential).		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.88C>A	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	0.074	-1.196358	0.01594	.	.	ENSG00000182652	ENST00000331723	T	0.16457	2.34	4.32	-8.64	0.00874	.	0.957035	0.08506	N	0.935633	T	0.06416	0.0165	N	0.17564	0.495	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.34925	-0.9809	10	0.18710	T	0.47	.	3.5275	0.07765	0.1395:0.3952:0.0785:0.3868	rs4494468;rs4494468	30	Q8NH05	OR4Q3_HUMAN	I	30	ENSP00000330049:L30I	ENSP00000330049:L30I	L	+	1	2	OR4Q3	19285514	0.000000	0.05858	0.003000	0.11579	0.699000	0.40488	-2.792000	0.00766	-1.380000	0.02115	-1.348000	0.01239	CTA		0.378	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			23	80	1	0	3.5997e-14	0.014323	6.67545e-14	23	80				
TRAV5	28688	broad.mit.edu	37	14	22217500	22217500	+	RNA	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:22217500C>G	ENST00000390427.3	+	0	39									T cell receptor alpha variable 5																		GATTTTCGTTCCTGTTTTTGT	0.453																																							uc010tmf.1		NA																	0					NA						c.(25-27)TTC>TTG		SubName: Full=Putative uncharacterized protein ENSP00000374943;							224.0	222.0	222.0					14																	22217500		1932	4127	6059			0							g.chr14:22217500C>G	AE000659		14q11.2	2012-02-07			ENSG00000211779	ENSG00000211779		"""T cell receptors / TRA locus"""	12143	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168983		14.37:g.22217500C>G						uc010aip.1_Intron|uc010aiq.1_Missense_Mutation_p.F9L	p.F9L							1	106	+									Missense_Mutation	SNP	ENST00000390427.3	37	c.27C>G																																																																																					0.453	TRAV5-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401881.1	NG_001332		31	118	0	0	0	0.004289	0	31	118				
MYH7	4625	broad.mit.edu	37	14	23885422	23885422	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:23885422C>A	ENST00000355349.3	-	34	4906	c.4744G>T	c.(4744-4746)Gag>Tag	p.E1582*	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1582					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGTTCCATCTCCTCGTCCTTC	0.642																																							uc001wjx.2		NA																	0				ovary(3)|skin(1)	4						c.(4744-4746)GAG>TAG		myosin, heavy chain 7, cardiac muscle, beta							166.0	151.0	156.0					14																	23885422		2203	4300	6503	SO:0001587	stop_gained	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23885422C>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4744G>T	14.37:g.23885422C>A	ENSP00000347507:p.Glu1582*						p.E1582*	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	34	4850	-	all_cancers(95;2.54e-05)		1582			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Nonsense_Mutation	SNP	ENST00000355349.3	37	c.4744G>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	45	11.971591	0.99622	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8682	0.88803	0.0:1.0:0.0:0.0	.	.	.	.	X	1582;1587	.	ENSP00000347507:E1582X	E	-	1	0	MYH7	22955262	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.146000	0.77373	2.537000	0.85549	0.655000	0.94253	GAG		0.642	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		31	111	1	0	9.65021e-13	0.010818	1.729e-12	31	111				
MYH7	4625	broad.mit.edu	37	14	23886893	23886893	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:23886893T>A	ENST00000355349.3	-	31	4334	c.4172A>T	c.(4171-4173)aAg>aTg	p.K1391M	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1391					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGCCAGCTTCTTCCTGCCCAG	0.582																																							uc001wjx.2		NA																	0				ovary(3)|skin(1)	4						c.(4171-4173)AAG>ATG		myosin, heavy chain 7, cardiac muscle, beta							32.0	34.0	33.0					14																	23886893		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23886893T>A	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4172A>T	14.37:g.23886893T>A	ENSP00000347507:p.Lys1391Met						p.K1391M	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	31	4278	-	all_cancers(95;2.54e-05)		1391			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4172A>T	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.528365	0.85706	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.83335	-1.71	4.99	4.99	0.66335	Myosin tail (1);	.	.	.	.	D	0.93996	0.8077	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95869	0.8889	9	0.87932	D	0	.	14.8597	0.70372	0.0:0.0:0.0:1.0	.	1391	P12883	MYH7_HUMAN	M	1391;1396	ENSP00000347507:K1391M	ENSP00000347507:K1391M	K	-	2	0	MYH7	22956733	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	7.582000	0.82546	2.109000	0.64355	0.459000	0.35465	AAG		0.582	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		5	34	0	0	0	0.000602	0	5	34				
G2E3	55632	broad.mit.edu	37	14	31071081	31071081	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:31071081G>T	ENST00000206595.6	+	9	1012	c.858G>T	c.(856-858)agG>agT	p.R286S	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000553504.1_Missense_Mutation_p.R316S|G2E3_ENST00000438909.2_Missense_Mutation_p.R240S	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	286					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGGAATGTAGGGGTATTATCT	0.343																																							uc001wqk.2		NA																	0				ovary(2)|skin(1)	3						c.(856-858)AGG>AGT		G2/M-phase specific E3 ubiquitin ligase							87.0	83.0	84.0					14																	31071081		2203	4300	6503	SO:0001583	missense	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31071081G>T	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.858G>T	14.37:g.31071081G>T	ENSP00000206595:p.Arg286Ser					G2E3_uc010tpe.1_Missense_Mutation_p.R201S|G2E3_uc010tpf.1_Missense_Mutation_p.R240S	p.R286S	NM_017769	NP_060239	Q7L622	G2E3_HUMAN			9	1012	+			286			PHD-type 3.		Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	c.858G>T	CCDS9638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.53|15.53	2.861020|2.861020	0.51482|0.51482	.|.	.|.	ENSG00000092140|ENSG00000092140	ENST00000552515|ENST00000206595;ENST00000438909;ENST00000553504	.|T;T;T	.|0.41758	.|0.99;0.99;0.99	5.88|5.88	4.74|4.74	0.60224|0.60224	.|Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.|0.162282	.|0.64402	.|D	.|0.000006	T|T	0.39200|0.39200	0.1069|0.1069	N|N	0.25201|0.25201	0.72|0.72	0.38731|0.38731	D|D	0.953661|0.953661	.|B;D	.|0.60575	.|0.131;0.988	.|B;P	.|0.57204	.|0.022;0.815	T|T	0.30621|0.30621	-0.9972|-0.9972	5|10	.|0.30854	.|T	.|0.27	-23.8594|-23.8594	7.2969|7.2969	0.26397|0.26397	0.781:0.1449:0.074:0.0|0.781:0.1449:0.074:0.0	.|.	.|201;286	.|B4DIF9;Q7L622	.|.;G2E3_HUMAN	W|S	52|286;240;316	.|ENSP00000206595:R286S;ENSP00000391068:R240S;ENSP00000451653:R316S	.|ENSP00000206595:R286S	G|R	+|+	1|3	0|2	G2E3|G2E3	30140832|30140832	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.898000|2.898000	0.48672|0.48672	1.058000|1.058000	0.40530|0.40530	-0.302000|-0.302000	0.09304|0.09304	GGG|AGG		0.343	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		9	39	1	0	0.000274275	0.004482	0.000331637	9	39				
CLEC14A	161198	broad.mit.edu	37	14	38724382	38724382	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:38724382G>A	ENST00000342213.2	-	1	1192	c.846C>T	c.(844-846)gaC>gaT	p.D282D		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	282	EGF-like.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AAGAGCGGCCGTCCTTCCCCA	0.677																																							uc001wum.1		NA																	0				ovary(3)|skin(1)	4						c.(844-846)GAC>GAT		C-type lectin domain family 14, member A							50.0	55.0	53.0					14																	38724382		2203	4300	6503	SO:0001819	synonymous_variant	161198					integral to membrane	sugar binding	g.chr14:38724382G>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.846C>T	14.37:g.38724382G>A							p.D282D	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1193	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		282			Extracellular (Potential).|EGF-like.		Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	c.846C>T	CCDS9667.1																																																																																				0.677	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		6	66	0	0	0	0.001168	0	6	66				
LRFN5	145581	broad.mit.edu	37	14	42360569	42360569	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:42360569G>T	ENST00000298119.4	+	4	2691	c.1502G>T	c.(1501-1503)aGa>aTa	p.R501I	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	501	Fibronectin type-III.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ACTGCCACAAGAGTCGTGGGT	0.433										HNSCC(30;0.082)																													uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1501-1503)AGA>ATA		leucine rich repeat and fibronectin type III							222.0	196.0	204.0					14																	42360569		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360569G>T	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1502G>T	14.37:g.42360569G>T	ENSP00000298119:p.Arg501Ile	HNSCC(30;0.082)				LRFN5_uc010ana.2_Intron	p.R501I	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2700	+			501			Extracellular (Potential).|Fibronectin type-III.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1502G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415611	0.83449	.	.	ENSG00000165379	ENST00000298119	T	0.54279	0.58	5.68	5.68	0.88126	Fibronectin, type III (1);	0.000000	0.64402	D	0.000012	T	0.70762	0.3261	M	0.72894	2.215	0.80722	D	1	D	0.58268	0.982	D	0.64042	0.921	T	0.72398	-0.4306	10	0.62326	D	0.03	.	17.2912	0.87157	0.0:0.0:1.0:0.0	.	501	Q96NI6	LRFN5_HUMAN	I	501	ENSP00000298119:R501I	ENSP00000298119:R501I	R	+	2	0	LRFN5	41430319	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.027000	0.88791	2.673000	0.90976	0.650000	0.86243	AGA		0.433	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		22	82	1	0	1.36565e-18	0.00278	2.62448e-18	22	82				
FANCM	57697	broad.mit.edu	37	14	45642334	45642334	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:45642334C>T	ENST00000267430.5	+	13	2322	c.2237C>T	c.(2236-2238)aCa>aTa	p.T746I	FANCM_ENST00000542564.2_Missense_Mutation_p.T720I	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	746					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CCTTTGCCTACACATCAAGTT	0.388								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														uc001wwd.3		NA																	0				ovary(3)|lung(2)|breast(2)	7						c.(2236-2238)ACA>ATA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							158.0	143.0	148.0					14																	45642334		2203	4300	6503	SO:0001583	missense	57697	FanconAnemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45642334C>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2237C>T	14.37:g.45642334C>T	ENSP00000267430:p.Thr746Ile					FANCM_uc010anf.2_Missense_Mutation_p.T720I|FANCM_uc001wwe.3_Missense_Mutation_p.T282I|FANCM_uc010ang.2_5'Flank	p.T746I	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			13	2336	+			746					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.2237C>T	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971353	0.34754	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.28666	2.31;2.35;1.6	5.79	3.99	0.46301	.	0.222115	0.45867	N	0.000340	T	0.36303	0.0962	M	0.77103	2.36	0.37668	D	0.923029	B;B	0.25667	0.131;0.131	B;B	0.25759	0.063;0.057	T	0.37337	-0.9710	10	0.59425	D	0.04	.	12.2642	0.54668	0.0:0.861:0.0:0.139	.	720;746	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	I	746;720;262	ENSP00000267430:T746I;ENSP00000442493:T720I;ENSP00000452033:T262I	ENSP00000267430:T746I	T	+	2	0	FANCM	44712084	0.974000	0.33945	0.633000	0.29310	0.356000	0.29392	2.638000	0.46562	0.806000	0.34183	0.561000	0.74099	ACA		0.388	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		12	42	0	0	0	0.010729	0	12	42				
KTN1	3895	broad.mit.edu	37	14	56104545	56104545	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:56104545C>T	ENST00000395314.3	+	12	1833	c.1765C>T	c.(1765-1767)Cat>Tat	p.H589Y	KTN1_ENST00000395309.3_Missense_Mutation_p.H589Y|KTN1_ENST00000416613.1_Missense_Mutation_p.H589Y|KTN1_ENST00000413890.2_Missense_Mutation_p.H589Y|KTN1_ENST00000395311.1_Missense_Mutation_p.H589Y|KTN1_ENST00000438792.2_Missense_Mutation_p.H589Y|KTN1_ENST00000395308.1_Missense_Mutation_p.H589Y	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	589					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TCAGCAGTTCCATTCCCAGAT	0.373			T	RET	papillary thryoid																																		uc001xcb.2		NA		Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						c.(1765-1767)CAT>TAT		kinectin 1 isoform a							152.0	149.0	150.0					14																	56104545		2203	4300	6503	SO:0001583	missense	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56104545C>T		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.1765C>T	14.37:g.56104545C>T	ENSP00000378725:p.His589Tyr					KTN1_uc001xce.2_Missense_Mutation_p.H589Y|KTN1_uc001xcc.2_Missense_Mutation_p.H589Y|KTN1_uc001xcd.2_Missense_Mutation_p.H589Y|KTN1_uc010trb.1_Missense_Mutation_p.H589Y|KTN1_uc001xcf.1_Missense_Mutation_p.H589Y	p.H589Y	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN			13	2067	+			589			Lumenal (Potential).|Potential.		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.1765C>T	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.557197	0.86231	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	T;T;T;T;T;T;T	0.34072	1.38;1.42;1.42;1.42;1.38;1.38;1.42	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000020	T	0.59756	0.2217	L	0.56769	1.78	0.46167	D	0.998905	D;D;D;D	0.76494	0.999;0.998;0.99;0.999	D;D;D;D	0.85130	0.997;0.993;0.961;0.997	T	0.58295	-0.7661	10	0.62326	D	0.03	-6.784	20.0396	0.97574	0.0:1.0:0.0:0.0	.	589;589;589;589	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	Y	589	ENSP00000394992:H589Y;ENSP00000378720:H589Y;ENSP00000391964:H589Y;ENSP00000378725:H589Y;ENSP00000378719:H589Y;ENSP00000378722:H589Y;ENSP00000388807:H589Y	ENSP00000378719:H589Y	H	+	1	0	KTN1	55174298	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.927000	0.56499	2.814000	0.96858	0.563000	0.77884	CAT		0.373	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			15	50	0	0	0	0.00499	0	15	50				
RTN1	6252	broad.mit.edu	37	14	60193775	60193775	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:60193775G>T	ENST00000267484.5	-	3	1962	c.1627C>A	c.(1627-1629)Ctg>Atg	p.L543M		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	543					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCAGGCTCCAGGGCTCCGTCT	0.677																																							uc001xen.1		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1627-1629)CTG>ATG		reticulon 1 isoform A							19.0	23.0	22.0					14																	60193775		2202	4299	6501	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60193775G>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1627C>A	14.37:g.60193775G>T	ENSP00000267484:p.Leu543Met					RTN1_uc001xem.1_Missense_Mutation_p.L123M	p.L543M	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	3	1836	-			543					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.1627C>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	9.779	1.174867	0.21704	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000433623	T	0.23950	1.88	4.89	-2.56	0.06268	.	3.246970	0.00815	N	0.001533	T	0.21103	0.0508	N	0.22421	0.69	0.09310	N	1	B	0.20261	0.043	B	0.16722	0.016	T	0.37641	-0.9697	10	0.46703	T	0.11	.	13.3313	0.60488	0.0871:0.6235:0.2894:0.0	.	543	Q16799	RTN1_HUMAN	M	123;543;469	ENSP00000267484:L543M	ENSP00000267484:L543M	L	-	1	2	RTN1	59263528	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.002000	0.13061	-0.489000	0.06716	0.563000	0.77884	CTG		0.677	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			6	10	1	0	3.59834e-05	0.001168	4.69764e-05	6	10				
KCNH5	27133	broad.mit.edu	37	14	63416895	63416895	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:63416895G>C	ENST00000322893.7	-	7	1593	c.1325C>G	c.(1324-1326)aCa>aGa	p.T442R	KCNH5_ENST00000394964.2_Missense_Mutation_p.T384R|KCNH5_ENST00000420622.2_Missense_Mutation_p.T442R|KCNH5_ENST00000394968.1_Missense_Mutation_p.T384R	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	442					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTCCACATCTGTGGTAGGAGC	0.398																																							uc001xfx.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(1324-1326)ACA>AGA		potassium voltage-gated channel, subfamily H,							99.0	93.0	95.0					14																	63416895		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63416895G>C	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1325C>G	14.37:g.63416895G>C	ENSP00000321427:p.Thr442Arg					KCNH5_uc001xfy.2_Missense_Mutation_p.T442R|KCNH5_uc001xfz.1_Missense_Mutation_p.T384R|KCNH5_uc001xga.2_Missense_Mutation_p.T384R	p.T442R	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	7	1376	-			442			Extracellular (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1325C>G	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739048	0.89573	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.98221	-4.8;-4.8;-4.8;-4.8	5.75	5.75	0.90469	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98994	0.9657	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.998;0.999	D	0.99835	1.1057	10	0.87932	D	0	.	19.9598	0.97242	0.0:0.0:1.0:0.0	.	384;384;442;442	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	R	442;442;384;384	ENSP00000321427:T442R;ENSP00000395439:T442R;ENSP00000378419:T384R;ENSP00000378415:T384R	ENSP00000321427:T442R	T	-	2	0	KCNH5	62486648	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.869000	0.99810	2.716000	0.92895	0.655000	0.94253	ACA		0.398	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		11	33	0	0	0	0.010729	0	11	33				
KCNH5	27133	broad.mit.edu	37	14	63417223	63417223	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:63417223G>T	ENST00000322893.7	-	7	1265	c.997C>A	c.(997-999)Cgt>Agt	p.R333S	KCNH5_ENST00000394964.2_Missense_Mutation_p.R275S|KCNH5_ENST00000420622.2_Missense_Mutation_p.R333S|KCNH5_ENST00000394968.1_Missense_Mutation_p.R275S	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	333					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTAGCCACACGGCCCAGTCGT	0.463																																							uc001xfx.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(997-999)CGT>AGT		potassium voltage-gated channel, subfamily H,							66.0	67.0	67.0					14																	63417223		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63417223G>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.997C>A	14.37:g.63417223G>T	ENSP00000321427:p.Arg333Ser					KCNH5_uc001xfy.2_Missense_Mutation_p.R333S|KCNH5_uc001xfz.1_Missense_Mutation_p.R275S|KCNH5_uc001xga.2_Missense_Mutation_p.R275S	p.R333S	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	7	1048	-			333			Helical; Voltage-sensor; Name=Segment S4; (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.997C>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	32	5.105684	0.94292	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94	5.79	5.79	0.91817	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99293	0.9753	M	0.93678	3.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.99023	1.0818	10	0.87932	D	0	.	20.0206	0.97499	0.0:0.0:1.0:0.0	.	275;275;333;333	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	S	333;333;275;275	ENSP00000321427:R333S;ENSP00000395439:R333S;ENSP00000378419:R275S;ENSP00000378415:R275S	ENSP00000321427:R333S	R	-	1	0	KCNH5	62486976	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.858000	0.99539	2.731000	0.93534	0.591000	0.81541	CGT		0.463	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		14	52	1	0	1.52009e-12	0.003163	2.70238e-12	14	52				
RDH12	145226	broad.mit.edu	37	14	68191237	68191238	+	Missense_Mutation	DNP	GC	GC	CA			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:68191237_68191238GC>CA	ENST00000551171.1	+	4	440_441	c.116_117GC>CA	c.(115-117)gGC>gCA	p.G39A	RDH12_ENST00000539142.1_Missense_Mutation_p.G39A|RDH12_ENST00000267502.3_Missense_Mutation_p.G39A	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	39					photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CAGCTTCCTGGCAAGGTAGTGG	0.535																																							uc001xjz.3		NA																	0				ovary(1)	1						c.(115-117)GGC>GCA		retinol dehydrogenase 12	Vitamin A(DB00162)																																			SO:0001583	missense	145226				photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity	g.chr14:68191237_68191238GC>CA	AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19977	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 2"""	608830	"""retinol dehydrogenase 12 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		Exception_encountered	14.37:g.68191237_68191238delinsCA	ENSP00000449079:p.Gly39Ala						p.G39A	NM_152443	NP_689656	Q96NR8	RDH12_HUMAN		all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	4	440_441	+			39					B2RDA2|Q8TAW6	Missense_Mutation	DNP	ENST00000551171.1	37	c.116_117GC>CA	CCDS9787.1																																																																																				0.535	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			13	65	0	0	0	0.004672	0	13	65				
ADAM21P1	145241	broad.mit.edu	37	14	70712911	70712911	+	RNA	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:70712911A>T	ENST00000530196.1	-	0	1607					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CGTCCTGCACATATCTATCTT	0.448																																							uc010ttg.1		NA																	0					0						c.(955-957)TAT>TAA		SubName: Full=ADAM21-like protein;																																						145241							g.chr14:70712911A>T			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70712911A>T							p.Y319*	NR_003951						1	1608	-									Nonsense_Mutation	SNP	ENST00000530196.1	37	c.957T>A																																																																																					0.448	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		5	37	0	0	0	0.000602	0	5	37				
ADAM21P1	145241	broad.mit.edu	37	14	70713412	70713412	+	RNA	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:70713412A>G	ENST00000530196.1	-	0	1106					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		TATCAACTCCACAATCAATAG	0.408																																							uc010ttg.1		NA																	0					0						c.(454-456)TGT>TGC		SubName: Full=ADAM21-like protein;																																						145241							g.chr14:70713412A>G			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70713412A>G							p.C152C	NR_003951						1	1107	-									Silent	SNP	ENST00000530196.1	37	c.456T>C																																																																																					0.408	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		19	92	0	0	0	0.014323	0	19	92				
RPS6KL1	83694	broad.mit.edu	37	14	75376737	75376737	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:75376737A>G	ENST00000555647.1	-	8	1066	c.779T>C	c.(778-780)cTg>cCg	p.L260P	RPS6KL1_ENST00000354625.2_Missense_Mutation_p.L229P|RPS6KL1_ENST00000554900.1_5'Flank|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.L260P|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.L260P			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	260	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CGCTGGGGTCAGGAGGTTGAG	0.642																																							uc010tux.1		NA																	0				ovary(1)|stomach(1)|central_nervous_system(1)	3						c.(778-780)CTG>CCG		ribosomal protein S6 kinase-like 1							63.0	66.0	65.0					14																	75376737		2203	4300	6503	SO:0001583	missense	83694					ribosome	ATP binding|protein serine/threonine kinase activity	g.chr14:75376737A>G	BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.779T>C	14.37:g.75376737A>G	ENSP00000452027:p.Leu260Pro					RPS6KL1_uc001xqx.1_Missense_Mutation_p.L12P|RPS6KL1_uc001xqw.2_Missense_Mutation_p.L229P|RPS6KL1_uc010asd.1_RNA	p.L260P	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00658)	7	1307	-			260			Protein kinase.		A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	ENST00000555647.1	37	c.779T>C	CCDS9834.2	.	.	.	.	.	.	.	.	.	.	A	9.034	0.987923	0.18966	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	T;T;T;T	0.59224	0.31;0.28;0.31;0.31	5.4	-10.8	0.00216	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.863370	0.02444	N	0.084875	T	0.36717	0.0977	N	0.22421	0.69	0.22199	N	0.999293	B;B;P	0.44946	0.001;0.0;0.846	B;B;P	0.44990	0.001;0.001;0.466	T	0.53244	-0.8466	10	0.34782	T	0.22	0.1893	1.139	0.01761	0.1589:0.1979:0.2884:0.3548	.	260;260;229	Q9Y6S9;B4DSP6;Q9Y6S9-2	RPKL1_HUMAN;.;.	P	260;229;260;260	ENSP00000452027:L260P;ENSP00000346644:L229P;ENSP00000450567:L260P;ENSP00000351086:L260P	ENSP00000346644:L229P	L	-	2	0	RPS6KL1	74446490	0.000000	0.05858	0.133000	0.22050	0.494000	0.33585	-3.994000	0.00318	-1.977000	0.00994	0.459000	0.35465	CTG		0.642	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413732.1			12	47	0	0	0	0.013537	0	12	47				
GPR65	8477	broad.mit.edu	37	14	88477406	88477406	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:88477406A>T	ENST00000267549.3	+	2	773	c.215A>T	c.(214-216)gAt>gTt	p.D72V	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	72					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTATGGATTGATTATACCTGG	0.393																																							uc001xvv.2		NA																	0					0						c.(214-216)GAT>GTT		G protein-coupled receptor 65							159.0	158.0	158.0					14																	88477406		2203	4300	6503	SO:0001583	missense	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477406A>T	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.215A>T	14.37:g.88477406A>T	ENSP00000267549:p.Asp72Val						p.D72V	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN			2	745	+			72			Extracellular (Potential).		O75819	Missense_Mutation	SNP	ENST00000267549.3	37	c.215A>T	CCDS9879.1	.	.	.	.	.	.	.	.	.	.	A	8.688	0.906799	0.17833	.	.	ENSG00000140030	ENST00000267549	T	0.34859	1.34	5.82	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	0.760798	0.11779	N	0.530378	T	0.19846	0.0477	N	0.05078	-0.115	0.46631	D	0.999136	B	0.06786	0.001	B	0.12156	0.007	T	0.04593	-1.0940	10	0.16896	T	0.51	.	12.2203	0.54431	0.8723:0.0:0.0:0.1277	.	72	Q8IYL9	PSYR_HUMAN	V	72	ENSP00000267549:D72V	ENSP00000267549:D72V	D	+	2	0	GPR65	87547159	0.119000	0.22226	0.371000	0.25978	0.016000	0.09150	1.464000	0.35288	0.981000	0.38548	0.528000	0.53228	GAT		0.393	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			10	89	0	0	0	0.006214	0	10	89				
KCNK10	54207	broad.mit.edu	37	14	88651918	88651918	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:88651918C>A	ENST00000340700.5	-	7	2029	c.1578G>T	c.(1576-1578)cgG>cgT	p.R526R	KCNK10_ENST00000319231.5_Silent_p.R531R|KCNK10_ENST00000312350.5_Silent_p.R531R	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	526					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCTCCGGCTCCCGGTCTTTGG	0.478																																							uc001xwo.2		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(1576-1578)CGG>CGT		potassium channel, subfamily K, member 10							155.0	146.0	149.0					14																	88651918		2203	4300	6503	SO:0001819	synonymous_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88651918C>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1578G>T	14.37:g.88651918C>A						KCNK10_uc001xwm.2_Silent_p.R531R|KCNK10_uc001xwn.2_Silent_p.R531R	p.R526R	NM_021161	NP_066984	P57789	KCNKA_HUMAN			7	2035	-			526			Cytoplasmic (Potential).		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	c.1578G>T	CCDS9880.1																																																																																				0.478	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161		12	62	1	0	1.08611e-07	0.010729	1.63869e-07	12	62				
SERPINA6	866	broad.mit.edu	37	14	94780929	94780929	+	Silent	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:94780929G>C	ENST00000341584.3	-	2	203	c.57C>G	c.(55-57)acC>acG	p.T19T		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	19					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TGGCCTGGACGGTCCAGAGGC	0.547																																							uc001ycv.2		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(55-57)ACC>ACG		corticosteroid binding globulin precursor	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)						100.0	103.0	102.0					14																	94780929		2203	4300	6503	SO:0001819	synonymous_variant	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94780929G>C	J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.57C>G	14.37:g.94780929G>C						SERPINA6_uc010auv.2_RNA	p.T19T	NM_001756	NP_001747	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	161	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	19					A8K456|Q7Z2Q9	Silent	SNP	ENST00000341584.3	37	c.57C>G	CCDS9924.1																																																																																				0.547	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		21	101	0	0	0	0.012319	0	21	101				
HHIPL1	84439	broad.mit.edu	37	14	100118736	100118736	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:100118736G>C	ENST00000330710.5	+	2	529	c.431G>C	c.(430-432)aGg>aCg	p.R144T	HHIPL1_ENST00000357223.2_Missense_Mutation_p.R144T	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	144					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				AACCTTGCCAGGTTCTGCCGC	0.587																																							uc010avs.2		NA																	0				skin(2)	2						c.(430-432)AGG>ACG		HHIP-like protein 1 isoform a							101.0	88.0	93.0					14																	100118736		2203	4300	6503	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100118736G>C	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.431G>C	14.37:g.100118736G>C	ENSP00000330601:p.Arg144Thr					HHIPL1_uc001ygl.1_Missense_Mutation_p.R144T	p.R144T	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN			2	496	+		Melanoma(154;0.128)	144					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.431G>C	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	g	10.95	1.495952	0.26774	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.35048	1.33;1.33	4.98	2.45	0.29901	Folate receptor-like (1);	0.356446	0.27371	N	0.019670	T	0.26448	0.0646	L	0.38175	1.15	0.22940	N	0.998532	B;B	0.13145	0.007;0.005	B;B	0.19666	0.016;0.026	T	0.18023	-1.0350	10	0.32370	T	0.25	.	9.1308	0.36843	0.8479:0.0:0.1521:0.0	.	144;144	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	T	144	ENSP00000330601:R144T;ENSP00000349757:R144T	ENSP00000330601:R144T	R	+	2	0	HHIPL1	99188489	0.015000	0.18098	0.951000	0.38953	0.905000	0.53344	1.655000	0.37345	0.241000	0.21283	-0.290000	0.09829	AGG		0.587	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566		10	49	0	0	0	0.006214	0	10	49				
DIO3	1735	broad.mit.edu	37	14	102027990	102027990	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:102027990C>T	ENST00000510508.4	+	1	303	c.157C>T	c.(157-159)Ctc>Ttc	p.L53F	DIO3OS_ENST00000408206.1_lincRNA|DIO3_ENST00000359323.3_Missense_Mutation_p.L27F			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	53					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CCCGCGCTTCCTCGGCACGGC	0.672																																							uc010txq.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(79-81)CTC>TTC		deiodinase, iodothyronine, type III							41.0	46.0	45.0					14																	102027990		2135	4228	6363	SO:0001583	missense	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102027990C>T	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.157C>T	14.37:g.102027990C>T	ENSP00000427336:p.Leu53Phe					DIO3OS_uc001ykd.1_5'Flank|uc001yke.2_5'Flank|uc001ykf.2_5'Flank|uc001ykg.2_5'Flank|uc001ykh.3_5'Flank|MIR1247_hsa-mir-1247|MI0006382_5'Flank	p.L27F	NM_001362	NP_001353	P55073	IOD3_HUMAN			1	303	+		all_neural(303;0.185)	27			Helical; Signal-anchor for type II membrane protein; (Potential).		G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	c.79C>T	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	c	13.81	2.348264	0.41599	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.36340	1.26;1.26	3.1	3.1	0.35709	.	0.000000	0.45126	U	0.000400	T	0.32734	0.0839	L	0.42581	1.335	0.36922	D	0.891438	P	0.37441	0.595	B	0.41646	0.362	T	0.30001	-0.9993	10	0.21540	T	0.41	.	12.8848	0.58038	0.0:1.0:0.0:0.0	.	27	P55073	IOD3_HUMAN	F	27;53	ENSP00000352273:L27F;ENSP00000427336:L53F	ENSP00000352273:L53F	L	+	1	0	DIO3;AL049836.1	101097743	1.000000	0.71417	0.984000	0.44739	0.946000	0.59487	5.779000	0.68948	1.548000	0.49413	0.457000	0.33378	CTC		0.672	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		4	43	0	0	0	0.000602	0	4	43				
AHNAK2	113146	broad.mit.edu	37	14	105415909	105415909	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr14:105415909G>T	ENST00000333244.5	-	7	5998	c.5879C>A	c.(5878-5880)gCc>gAc	p.A1960D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1960						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGCCTTCTGGGCCTGGACATC	0.592																																							uc010axc.1		NA																	0				ovary(1)	1						c.(5878-5880)GCC>GAC		AHNAK nucleoprotein 2							137.0	149.0	145.0					14																	105415909		2004	4131	6135	SO:0001583	missense	113146					nucleus		g.chr14:105415909G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5879C>A	14.37:g.105415909G>T	ENSP00000353114:p.Ala1960Asp					AHNAK2_uc001ypx.2_Missense_Mutation_p.A1860D	p.A1960D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5999	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1960					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5879C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	13.24	2.179078	0.38511	.	.	ENSG00000185567	ENST00000333244	T	0.00940	5.52	3.3	1.28	0.21552	.	.	.	.	.	T	0.02418	0.0074	M	0.83384	2.64	0.09310	N	1	P	0.45474	0.859	P	0.50708	0.648	T	0.34700	-0.9818	9	0.12430	T	0.62	-16.9029	6.5659	0.22511	0.2822:0.1823:0.5355:0.0	.	1960	Q8IVF2	AHNK2_HUMAN	D	1960	ENSP00000353114:A1960D	ENSP00000353114:A1960D	A	-	2	0	AHNAK2	104486954	0.000000	0.05858	0.019000	0.16419	0.003000	0.03518	-2.525000	0.00948	0.392000	0.25172	-0.343000	0.07986	GCC		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		44	174	1	0	1.52319e-26	0.00874	3.04637e-26	44	174				
BAHD1	22893	broad.mit.edu	37	15	40751539	40751539	+	Silent	SNP	C	C	T	rs138741325		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:40751539C>T	ENST00000416165.1	+	2	947	c.876C>T	c.(874-876)tcC>tcT	p.S292S	BAHD1_ENST00000561234.1_Silent_p.S292S|BAHD1_ENST00000560846.1_Silent_p.S292S	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	292	Pro-rich.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GTGGGCCATCCGTCCAGCCAT	0.662																																							uc001zlu.2		NA																	0					0						c.(874-876)TCC>TCT		bromo adjacent homology domain containing 1		C		0,4402		0,0,2201	45.0	47.0	46.0		876	-1.4	0.0	15	dbSNP_134	46	1,8589		0,1,4294	no	coding-synonymous	BAHD1	NM_014952.3		0,1,6495	TT,TC,CC		0.0116,0.0,0.0077		292/781	40751539	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40751539C>T	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.876C>T	15.37:g.40751539C>T						BAHD1_uc001zlt.2_Silent_p.S292S|BAHD1_uc010bbp.1_Silent_p.S292S|BAHD1_uc001zlv.2_Silent_p.S292S	p.S292S	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	2	947	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	292			Pro-rich.		Q8NDF7|Q9Y2F4	Silent	SNP	ENST00000416165.1	37	c.876C>T	CCDS10058.1																																																																																				0.662	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		3	34	0	0	0	0.004672	0	3	34				
HDC	3067	broad.mit.edu	37	15	50534992	50534993	+	Missense_Mutation	DNP	GG	GG	TT	rs377513123		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:50534992_50534993GG>TT	ENST00000267845.3	-	12	1855_1856	c.1453_1454CC>AA	c.(1453-1455)CCt>AAt	p.P485N	RN7SL494P_ENST00000461517.2_RNA|HDC_ENST00000543581.1_Missense_Mutation_p.P452N	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		CCCAACCCGAGGGCTGGGTTGG	0.559																																					GBM(95;1627 1936 6910 9570)	GBM(95;1627 1936 6910 9570)	uc001zxz.2		NA																	0				large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1453-1455)CCT>AAT		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)																																			SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50534992_50534993GG>TT		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1453_1454delinsTT	15.37:g.50534992_50534993delinsTT	ENSP00000267845:p.Pro485Asn					HDC_uc001zxy.2_Missense_Mutation_p.P228N|HDC_uc010uff.1_Missense_Mutation_p.P452N	p.P485N	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	12	1559_1560	-		all_lung(180;0.0138)	485						Missense_Mutation	DNP	ENST00000267845.3	37	c.1453_1454CC>AA	CCDS10134.1																																																																																				0.559	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			6	20	0	0	0	0.004672	0	6	20				
DMXL2	23312	broad.mit.edu	37	15	51834664	51834664	+	Missense_Mutation	SNP	C	C	A	rs149964881		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:51834664C>A	ENST00000251076.5	-	9	1258	c.971G>T	c.(970-972)aGg>aTg	p.R324M	DMXL2_ENST00000543779.2_Missense_Mutation_p.R324M|DMXL2_ENST00000449909.3_Missense_Mutation_p.R324M	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	324						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AACAGATGACCTCCTCTGTCC	0.388																																							uc002abf.2		NA																	0				ovary(6)|skin(3)	9						c.(970-972)AGG>ATG		Dmx-like 2							104.0	98.0	100.0					15																	51834664		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51834664C>A	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.971G>T	15.37:g.51834664C>A	ENSP00000251076:p.Arg324Met					DMXL2_uc010ufy.1_Missense_Mutation_p.R324M|DMXL2_uc010bfa.2_Missense_Mutation_p.R324M	p.R324M	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	9	1196	-			324					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.971G>T	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943998	0.53079	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.26373	1.89;1.89;1.74	5.45	4.54	0.55810	.	0.042859	0.85682	D	0.000000	T	0.50017	0.1591	M	0.73217	2.22	0.28729	N	0.9026	D;D;D	0.89917	1.0;0.99;1.0	D;P;D	0.81914	0.991;0.707;0.995	T	0.52335	-0.8589	10	0.87932	D	0	.	14.7993	0.69900	0.0:0.93:0.0:0.07	.	324;324;324	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	M	324	ENSP00000251076:R324M;ENSP00000441858:R324M;ENSP00000400855:R324M	ENSP00000251076:R324M	R	-	2	0	DMXL2	49621956	1.000000	0.71417	0.977000	0.42913	0.979000	0.70002	5.739000	0.68622	1.437000	0.47472	0.650000	0.86243	AGG		0.388	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		6	28	1	0	0.00198382	0.001984	0.00225226	6	28				
VPS13C	54832	broad.mit.edu	37	15	62265686	62265686	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:62265686C>A	ENST00000261517.5	-	26	2657	c.2584G>T	c.(2584-2586)Ggt>Tgt	p.G862C	VPS13C_ENST00000249837.3_Missense_Mutation_p.G819C|VPS13C_ENST00000395898.3_Missense_Mutation_p.G819C|VPS13C_ENST00000395896.4_Missense_Mutation_p.G862C	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AGTGAAGTACCAAGTAGACCT	0.318																																							uc002agz.2		NA																	0				ovary(2)	2						c.(2584-2586)GGT>TGT		vacuolar protein sorting 13C protein isoform 2A							138.0	139.0	139.0					15																	62265686		2203	4299	6502	SO:0001583	missense	54832				protein localization			g.chr15:62265686C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.2584G>T	15.37:g.62265686C>A	ENSP00000261517:p.Gly862Cys					VPS13C_uc002aha.2_Missense_Mutation_p.G819C|VPS13C_uc002ahb.1_Missense_Mutation_p.G862C|VPS13C_uc002ahc.1_Missense_Mutation_p.G819C	p.G862C	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			26	2658	-			862						Missense_Mutation	SNP	ENST00000261517.5	37	c.2584G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786980	0.31593	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.48836	0.8;0.8;0.99	4.99	3.11	0.35812	.	0.164157	0.36519	N	0.002544	T	0.48390	0.1497	L	0.57536	1.79	0.31213	N	0.698433	B;B;D;P	0.56968	0.007;0.009;0.978;0.836	B;B;P;P	0.48901	0.007;0.006;0.594;0.447	T	0.57814	-0.7746	10	0.72032	D	0.01	.	8.7541	0.34635	0.0:0.7489:0.0:0.2511	.	819;862;819;862	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	C	819;862;862;862	ENSP00000249837:G819C;ENSP00000261517:G862C;ENSP00000379233:G862C	ENSP00000249837:G819C	G	-	1	0	VPS13C	60052978	0.069000	0.21087	0.449000	0.26957	0.395000	0.30598	0.213000	0.17521	0.769000	0.33313	-0.225000	0.12378	GGT		0.318	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		11	57	1	0	9.31168e-06	0.001855	1.27365e-05	11	57				
MAP2K5	5607	broad.mit.edu	37	15	67879196	67879196	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:67879196G>T	ENST00000178640.5	+	6	1003	c.376G>T	c.(376-378)Gcc>Tcc	p.A126S	MAP2K5_ENST00000354498.5_Missense_Mutation_p.A90S|MAP2K5_ENST00000395476.2_Missense_Mutation_p.A126S|MAP2K5_ENST00000560591.1_3'UTR	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	126	Interaction with MAPK7. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|cellular response to growth factor stimulus (GO:0071363)|cellular response to laminar fluid shear stress (GO:0071499)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						GAATACTCGGGCCGGACCCTC	0.428																																							uc002aqu.2		NA																	0				lung(2)	2						c.(376-378)GCC>TCC		mitogen-activated protein kinase kinase 5							158.0	164.0	162.0					15																	67879196		2200	4298	6498	SO:0001583	missense	5607				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:67879196G>T	U25265	CCDS10224.1, CCDS42051.1, CCDS55970.1	15q22.31	2011-06-09			ENSG00000137764	ENSG00000137764		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6845	protein-coding gene	gene with protein product		602520		PRKMK5		7759517	Standard	NM_002757		Approved	MEK5, MAPKK5, HsT17454	uc002aqu.3	Q13163	OTTHUMG00000133264	ENST00000178640.5:c.376G>T	15.37:g.67879196G>T	ENSP00000178640:p.Ala126Ser					MAP2K5_uc002aqt.1_Missense_Mutation_p.A126S|MAP2K5_uc002aqv.2_Missense_Mutation_p.A126S|MAP2K5_uc002aqw.2_5'UTR|MAP2K5_uc010ujw.1_Missense_Mutation_p.A90S	p.A126S	NM_145160	NP_660143	Q13163	MP2K5_HUMAN			6	1029	+			126			Interaction with MAPK7 (By similarity).		B4DE43|Q92961|Q92962	Missense_Mutation	SNP	ENST00000178640.5	37	c.376G>T	CCDS10224.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077779	0.36662	.	.	ENSG00000137764	ENST00000541298;ENST00000395476;ENST00000178640;ENST00000354498;ENST00000439036	T;T;T;T	0.72051	-0.42;-0.62;-0.6;0.83	5.77	5.77	0.91146	.	0.049412	0.85682	D	0.000000	T	0.57725	0.2073	N	0.19112	0.55	0.80722	D	1	B;P;B;B	0.36837	0.139;0.571;0.231;0.435	B;B;B;B	0.33392	0.037;0.163;0.054;0.078	T	0.55909	-0.8066	10	0.25751	T	0.34	-12.2501	19.9915	0.97366	0.0:0.0:1.0:0.0	.	90;126;126;126	B4DE43;Q13163-2;Q13163;B2RD76	.;.;MP2K5_HUMAN;.	S	126;126;126;90;59	ENSP00000378859:A126S;ENSP00000178640:A126S;ENSP00000346493:A90S;ENSP00000390196:A59S	ENSP00000178640:A126S	A	+	1	0	MAP2K5	65666250	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.361000	0.66092	2.723000	0.93209	0.655000	0.94253	GCC		0.428	MAP2K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257041.1	NM_145162		24	73	1	0	1.33986e-20	0.004656	2.62628e-20	24	73				
CLN6	54982	broad.mit.edu	37	15	68500742	68500742	+	Silent	SNP	C	C	A	rs368443679		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:68500742C>A	ENST00000249806.5	-	7	829	c.672G>T	c.(670-672)ctG>ctT	p.L224L	CLN6_ENST00000566347.1_Silent_p.L161L|CLN6_ENST00000418702.2_Silent_p.L95L|CLN6_ENST00000538696.1_Silent_p.L256L|CALML4_ENST00000448060.2_5'Flank|CLN6_ENST00000564752.1_3'UTR|CLN6_ENST00000565471.1_Silent_p.L71L|CALML4_ENST00000467889.1_5'Flank|CALML4_ENST00000540479.1_5'Flank|RP11-315D16.2_ENST00000562767.1_Intron|CALML4_ENST00000395465.3_5'Flank	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	224					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCTCGGTGACCAGGTACCTGG	0.632																																							uc002arf.2		NA																	0					0						c.(670-672)CTG>CTT		CLN6 protein							44.0	36.0	39.0					15																	68500742		2200	4298	6498	SO:0001819	synonymous_variant	54982				cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity	g.chr15:68500742C>A	AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.672G>T	15.37:g.68500742C>A						CALML4_uc002arb.2_5'Flank|CALML4_uc002arc.2_5'Flank|CALML4_uc002ard.2_5'Flank|CALML4_uc002are.2_5'Flank|CALML4_uc010bhz.2_5'Flank|CLN6_uc010ujy.1_Silent_p.L95L|CLN6_uc010ujz.1_Silent_p.L256L	p.L224L	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN			7	830	-			224			Helical; (Potential).		A8K560|B4DDH6|Q6IAB1|Q96SR0	Silent	SNP	ENST00000249806.5	37	c.672G>T	CCDS10227.1																																																																																				0.632	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1	NM_017882		6	28	1	0	5.9392e-07	0.001168	8.56639e-07	6	28				
FEM1B	10116	broad.mit.edu	37	15	68582377	68582377	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:68582377C>A	ENST00000306917.4	+	2	1296	c.681C>A	c.(679-681)gcC>gcA	p.A227A		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	227					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						AAGTAGCTGCCGAAAGCTGTA	0.473																																							uc002arg.2		NA																	0					0						c.(679-681)GCC>GCA		fem-1 homolog b							117.0	110.0	112.0					15																	68582377		2200	4298	6498	SO:0001819	synonymous_variant	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68582377C>A		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.681C>A	15.37:g.68582377C>A						FEM1B_uc002arh.2_Silent_p.A147A	p.A227A	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN			2	1296	+			227			ANK 6.		O43146	Silent	SNP	ENST00000306917.4	37	c.681C>A	CCDS10228.1																																																																																				0.473	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			12	36	1	0	0.00010058	0.013537	0.000125588	12	36				
LOC645752	645752	broad.mit.edu	37	15	78208207	78208207	+	lincRNA	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:78208207A>T	ENST00000565869.1	+	0	0				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							GACGAATCCAAGCTCTCGTCT	0.602																																							uc010bky.2		NA																	0					0						c.(961-963)CTT>CAT		SubName: Full=GOLGA6 protein; Flags: Fragment;																																						645752							g.chr15:78208207A>T																													15.37:g.78208207A>T						LOC645752_uc010umq.1_5'Flank|uc002bcw.1_5'Flank|uc002bcx.1_5'Flank	p.L321H	NR_027024						15	1726	-									Missense_Mutation	SNP	ENST00000565869.1	37	c.962T>A																																																																																					0.602	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	45	0	0	0	0.009096	0	4	45				
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	lincRNA	SNP	A	A	G	rs577974396	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522																																							uc010bky.2		NA																	0					0						c.(118-120)CTA>CCA		SubName: Full=GOLGA6 protein; Flags: Fragment;																																						645752							g.chr15:78211648A>G																													15.37:g.78211648A>G							p.L40P	NR_027024						11	883	-									Missense_Mutation	SNP	ENST00000565869.1	37	c.119T>C																																																																																					0.522	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			3	63	0	0	0	0.004672	0	3	63				
CHRNA3	1136	broad.mit.edu	37	15	78894452	78894452	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:78894452C>A	ENST00000326828.5	-	5	916	c.532G>T	c.(532-534)Ggt>Tgt	p.G178C	CHRNA3_ENST00000348639.3_Missense_Mutation_p.G178C	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	178					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	GACCAGGAACCGAACTTCATG	0.502																																							uc002bec.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(532-534)GGT>TGT		cholinergic receptor, nicotinic, alpha 3							189.0	171.0	177.0					15																	78894452		2196	4293	6489	SO:0001583	missense	1136				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78894452C>A		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.532G>T	15.37:g.78894452C>A	ENSP00000315602:p.Gly178Cys					CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.G178C	p.G178C	NM_000743	NP_000734	P32297	ACHA3_HUMAN			5	718	-			178			Extracellular (Potential).		Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	Missense_Mutation	SNP	ENST00000326828.5	37	c.532G>T	CCDS10305.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916869	0.92249	.	.	ENSG00000080644	ENST00000348639;ENST00000326828;ENST00000326858	T;T	0.80994	-1.44;-1.44	6.17	6.17	0.99709	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.95166	0.8433	H	0.99391	4.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96432	0.9320	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	178;178	P32297;P32297-3	ACHA3_HUMAN;.	C	178;178;42	ENSP00000267951:G178C;ENSP00000315602:G178C	ENSP00000315602:G178C	G	-	1	0	CHRNA3	76681507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.811000	0.86092	2.941000	0.99782	0.655000	0.94253	GGT		0.502	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3			22	108	1	0	1.66031e-10	0.003954	2.78607e-10	22	108				
IL16	3603	broad.mit.edu	37	15	81578129	81578129	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:81578129C>A	ENST00000302987.4	+	9	1290	c.1290C>A	c.(1288-1290)ccC>ccA	p.P430P	IL16_ENST00000394660.2_Silent_p.P430P			Q14005	IL16_HUMAN	interleukin 16	430	Interaction with GRIN2A.|PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ACTGTGATCCCGGTCCAGTCC	0.522																																							uc002bgh.3		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1288-1290)CCC>CCA		interleukin 16 isoform 2							176.0	176.0	176.0					15																	81578129		2054	4194	6248	SO:0001819	synonymous_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81578129C>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1290C>A	15.37:g.81578129C>A						IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Silent_p.P430P|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.P472P|IL16_uc002bgg.2_Silent_p.P430P|IL16_uc002bgi.1_5'UTR	p.P430P	NM_172217	NP_757366	Q14005	IL16_HUMAN			10	1666	+			430			PDZ 2.|Interaction with GRIN2A.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	c.1290C>A	CCDS42069.1																																																																																				0.522	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		19	82	1	0	2.94398e-08	0.007413	4.53123e-08	19	82				
ADAMTSL3	57188	broad.mit.edu	37	15	84611395	84611395	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:84611395G>A	ENST00000286744.5	+	18	2389	c.2165G>A	c.(2164-2166)gGa>gAa	p.G722E	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G722E	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	722	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTGGAGTTGGAATTCAGACC	0.537																																							uc002bjz.3		NA																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(2164-2166)GGA>GAA		ADAMTS-like 3 precursor							97.0	98.0	98.0					15																	84611395		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84611395G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2165G>A	15.37:g.84611395G>A	ENSP00000286744:p.Gly722Glu					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G722E|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.G722E	p.G722E	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		18	2389	+			722			TSP type-1 5.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.2165G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079685	0.94050	.	.	ENSG00000156218	ENST00000286744	D	0.83673	-1.75	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000002	D	0.95392	0.8504	H	0.98918	4.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97050	0.9763	10	0.87932	D	0	.	19.4362	0.94796	0.0:0.0:1.0:0.0	.	722;722	P82987-2;P82987	.;ATL3_HUMAN	E	722	ENSP00000286744:G722E	ENSP00000286744:G722E	G	+	2	0	ADAMTSL3	82402399	1.000000	0.71417	0.988000	0.46212	0.995000	0.86356	8.469000	0.90395	2.683000	0.91414	0.655000	0.94253	GGA		0.537	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		14	52	0	0	0	0.003163	0	14	52				
FURIN	5045	broad.mit.edu	37	15	91421384	91421384	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr15:91421384G>T	ENST00000268171.3	+	8	969	c.690G>T	c.(688-690)gaG>gaT	p.E230D		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	230	Peptidase S8.				cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of low-density lipoprotein particle receptor catabolic process (GO:0032804)|negative regulation of transforming growth factor beta1 production (GO:0032911)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-translational protein modification (GO:0043687)|protein processing (GO:0016485)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)|regulation of protein catabolic process (GO:0042176)|secretion by cell (GO:0032940)|signal peptide processing (GO:0006465)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|nerve growth factor binding (GO:0048406)|peptidase activity (GO:0008233)|peptide binding (GO:0042277)|protease binding (GO:0002020)|serine-type endopeptidase activity (GO:0004252)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G229_D233delGEVTD(1)		breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TGGATGGCGAGGTGACAGATG	0.662																																							uc002bpu.1		NA																	1	Deletion - In frame(1)		prostate(1)	central_nervous_system(4)|lung(2)|breast(1)	7						c.(688-690)GAG>GAT		furin preproprotein							69.0	64.0	66.0					15																	91421384		2198	4298	6496	SO:0001583	missense	5045				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity	g.chr15:91421384G>T	X17094	CCDS10364.1	15q26.1	2007-01-24	2002-12-04	2002-12-06	ENSG00000140564	ENSG00000140564			8568	protein-coding gene	gene with protein product		136950	"""paired basic amino acid cleaving enzyme (furin, membrane associated receptor protein)"""	PCSK3, FUR, PACE		2251280, 1741956	Standard	NM_002569		Approved	SPC1	uc002bpu.1	P09958	OTTHUMG00000149831	ENST00000268171.3:c.690G>T	15.37:g.91421384G>T	ENSP00000268171:p.Glu230Asp						p.E230D	NM_002569	NP_002560	P09958	FURIN_HUMAN	Lung(145;0.189)		8	906	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		230					Q14336|Q6LBS3|Q9UCZ5	Missense_Mutation	SNP	ENST00000268171.3	37	c.690G>T	CCDS10364.1	.	.	.	.	.	.	.	.	.	.	G	4.916	0.170159	0.09339	.	.	ENSG00000140564	ENST00000268171	D	0.87491	-2.26	4.58	1.63	0.23807	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	N	0.01257	-0.925	0.58432	D	0.999999	B	0.06786	0.001	B	0.10450	0.005	T	0.56165	-0.8024	10	0.02654	T	1	-27.5382	8.2558	0.31756	0.2608:0.0:0.7392:0.0	.	230	P09958	FURIN_HUMAN	D	230	ENSP00000268171:E230D	ENSP00000268171:E230D	E	+	3	2	FURIN	89222388	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	1.519000	0.35888	0.169000	0.19679	0.555000	0.69702	GAG		0.662	FURIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313492.1	NM_002569		12	53	1	0	1.05317e-09	0.00245	1.71296e-09	12	53				
ZNF200	7752	broad.mit.edu	37	16	3283746	3283746	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:3283746C>A	ENST00000431561.3	-	2	622	c.10G>T	c.(10-12)Gca>Tca	p.A4S	ZNF200_ENST00000575948.1_Missense_Mutation_p.A4S|ZNF200_ENST00000414144.2_Missense_Mutation_p.A4S|ZNF200_ENST00000396871.4_Missense_Mutation_p.A4S|ZNF200_ENST00000396870.4_Missense_Mutation_p.A4S|ZNF200_ENST00000396868.3_Missense_Mutation_p.A4S	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	4					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)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						ACCACTTTTGCAGCCATCATG	0.537																																							uc002cuj.2		NA																	0					0						c.(10-12)GCA>TCA		zinc finger protein 200 isoform 1							141.0	135.0	137.0					16																	3283746		2197	4300	6497	SO:0001583	missense	7752				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr16:3283746C>A	AF060866	CCDS10497.1, CCDS42112.1, CCDS45395.1	16p13.3	2013-01-08			ENSG00000010539	ENSG00000010539		"""Zinc fingers, C2H2-type"""	12993	protein-coding gene	gene with protein product		603231				9288094, 9787081	Standard	NM_003454		Approved		uc002cuk.2	P98182	OTTHUMG00000129317	ENST00000431561.3:c.10G>T	16.37:g.3283746C>A	ENSP00000395723:p.Ala4Ser					ZNF200_uc002cum.3_Missense_Mutation_p.A4S|ZNF200_uc010bti.2_Missense_Mutation_p.A4S|ZNF200_uc002cuk.2_Missense_Mutation_p.A4S|ZNF200_uc002cui.2_Missense_Mutation_p.A4S|ZNF200_uc002cul.3_Missense_Mutation_p.A4S	p.A4S	NM_003454	NP_003445	P98182	ZN200_HUMAN			2	642	-			4					D3DUB7|D3DUB8|O15361|Q5XKM5|Q7Z5V1	Missense_Mutation	SNP	ENST00000431561.3	37	c.10G>T	CCDS10497.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719014	0.30503	.	.	ENSG00000010539	ENST00000396870;ENST00000396868;ENST00000396871;ENST00000414144;ENST00000431561	T;T;T;T;T	0.07444	3.19;3.2;3.19;3.26;3.26	5.44	2.78	0.32641	.	0.171308	0.28119	N	0.016540	T	0.07773	0.0195	L	0.44542	1.39	0.24042	N	0.99608	P;P;P	0.40180	0.58;0.58;0.705	B;B;B	0.38500	0.142;0.142;0.275	T	0.20042	-1.0287	10	0.48119	T	0.1	-11.3857	7.5083	0.27558	0.0:0.7482:0.0:0.2518	.	4;4;4	D3DUB7;P98182;P98182-2	.;ZN200_HUMAN;.	S	4	ENSP00000380079:A4S;ENSP00000380077:A4S;ENSP00000380080:A4S;ENSP00000405786:A4S;ENSP00000395723:A4S	ENSP00000380077:A4S	A	-	1	0	ZNF200	3223747	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	0.858000	0.27845	0.448000	0.26722	0.609000	0.83330	GCA		0.537	ZNF200-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000437545.1			21	108	1	0	1.28384e-07	0.012319	1.92018e-07	21	108				
MYH11	4629	broad.mit.edu	37	16	15826436	15826436	+	Silent	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:15826436A>T	ENST00000300036.5	-	27	3745	c.3636T>A	c.(3634-3636)ctT>ctA	p.L1212L	AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000396324.3_Silent_p.L1219L|MYH11_ENST00000576790.2_Silent_p.L1212L|MYH11_ENST00000452625.2_Silent_p.L1219L	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1212					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGAACTGCTCAAGCTGCTCTG	0.517			T	CBFB	AML																																		uc002ddy.2		NA		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(3634-3636)CTT>CTA		smooth muscle myosin heavy chain 11 isoform							205.0	175.0	185.0					16																	15826436		2197	4300	6497	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15826436A>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3636T>A	16.37:g.15826436A>T						MYH11_uc002ddv.2_Silent_p.L1219L|MYH11_uc002ddw.2_Silent_p.L1212L|MYH11_uc002ddx.2_Silent_p.L1219L|MYH11_uc010bvg.2_Silent_p.L1044L	p.L1212L	NM_002474	NP_002465	P35749	MYH11_HUMAN			27	3743	-			1212			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.3636T>A	CCDS10565.1																																																																																				0.517	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		17	132	0	0	0	0.006122	0	17	132				
CCP110	9738	broad.mit.edu	37	16	19562548	19562548	+	Missense_Mutation	SNP	G	G	T	rs141344673		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:19562548G>T	ENST00000381396.5	+	15	3264	c.3017G>T	c.(3016-3018)cGg>cTg	p.R1006L	CCP110_ENST00000396212.2_Silent_p.A977A|CCP110_ENST00000396208.2_Silent_p.A977A	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	1006					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CAAAGAAAGCGGCCAAATGTT	0.333																																							uc002dgl.3		NA																	0					0						c.(3016-3018)CGG>CTG		RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;							124.0	132.0	130.0					16																	19562548		2197	4300	6497	SO:0001583	missense	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19562548G>T	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.3017G>T	16.37:g.19562548G>T	ENSP00000370803:p.Arg1006Leu					CP110_uc002dgk.3_Silent_p.A977A	p.R1006L			O43303	CP110_HUMAN			15	3264	+			1006					B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	c.3017G>T	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318901	0.60524	.	.	ENSG00000103540	ENST00000381396	T	0.16597	2.33	5.26	1.73	0.24493	.	0.193957	0.34986	N	0.003534	T	0.13157	0.0319	.	.	.	0.80722	D	1	P	0.35226	0.491	B	0.35931	0.214	T	0.05989	-1.0852	9	0.66056	D	0.02	-3.7389	5.4963	0.16805	0.5016:0.0:0.4984:0.0	.	1006	O43303	CP110_HUMAN	L	1006	ENSP00000370803:R1006L	ENSP00000370803:R1006L	R	+	2	0	CCP110	19470049	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	3.061000	0.49963	0.708000	0.31955	0.650000	0.86243	CGG		0.333	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2	NM_014711		22	113	1	0	1.9806e-07	0.014323	2.95586e-07	22	113				
UMOD	7369	broad.mit.edu	37	16	20352638	20352638	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:20352638C>A	ENST00000570689.1	-	7	1498	c.1352G>T	c.(1351-1353)gGc>gTc	p.G451V	UMOD_ENST00000302509.4_Missense_Mutation_p.G451V|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396142.2_Missense_Mutation_p.G451V|UMOD_ENST00000396138.4_Missense_Mutation_p.G500V|UMOD_ENST00000424589.1_Missense_Mutation_p.G484V|UMOD_ENST00000396134.2_Missense_Mutation_p.G484V			P07911	UROM_HUMAN	uromodulin	451	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCCGGTCCCGCCCACTCTGAT	0.577																																							uc002dgz.2		NA																	0				ovary(1)|skin(1)	2						c.(1351-1353)GGC>GTC		uromodulin precursor							67.0	60.0	62.0					16																	20352638		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20352638C>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1352G>T	16.37:g.20352638C>A	ENSP00000460548:p.Gly451Val					UMOD_uc002dha.2_Missense_Mutation_p.G451V|UMOD_uc002dhb.2_Missense_Mutation_p.G484V	p.G451V	NM_003361	NP_003352	P07911	UROM_HUMAN			7	1481	-			451			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1352G>T	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974053	0.53720	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.81579	-1.51;-1.51;-1.5;-1.5	5.06	5.06	0.68205	Zona pellucida sperm-binding protein (3);	0.000000	0.50627	D	0.000118	D	0.86493	0.5946	L	0.48362	1.52	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.97110	1.0;0.969	D	0.87055	0.2149	10	0.56958	D	0.05	-20.6993	16.3122	0.82883	0.0:1.0:0.0:0.0	.	484;451	E9PEA4;P07911	.;UROM_HUMAN	V	451;484;484;451;429;451	ENSP00000379438:G484V;ENSP00000416346:G484V;ENSP00000306279:G451V;ENSP00000379446:G451V	ENSP00000306279:G451V	G	-	2	0	UMOD	20260139	0.793000	0.28825	0.976000	0.42696	0.184000	0.23303	1.812000	0.38952	2.505000	0.84491	0.655000	0.94253	GGC		0.577	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			5	29	1	0	1.23904e-05	0.000602	1.67149e-05	5	29				
ACSM5	54988	broad.mit.edu	37	16	20441028	20441028	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:20441028C>A	ENST00000331849.4	+	8	1177	c.1030C>A	c.(1030-1032)Ctg>Atg	p.L344M		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	344					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)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GAGGCACTGTCTGACCGGAGG	0.562																																							uc002dhe.2		NA																	0				ovary(2)	2						c.(1030-1032)CTG>ATG		acyl-CoA synthetase medium-chain family member 5							94.0	96.0	95.0					16																	20441028		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20441028C>A		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.1030C>A	16.37:g.20441028C>A	ENSP00000327916:p.Leu344Met						p.L344M	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			8	1177	+			344					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1030C>A	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	0.714	-0.786198	0.02907	.	.	ENSG00000183549	ENST00000331849	T	0.51071	0.72	4.4	-8.81	0.00813	AMP-dependent synthetase/ligase (1);	1.458210	0.04708	N	0.417145	T	0.37839	0.1018	L	0.47016	1.485	0.09310	N	1	B	0.25850	0.136	B	0.32149	0.141	T	0.42172	-0.9467	10	0.54805	T	0.06	0.219	6.4167	0.21719	0.1566:0.2144:0.525:0.104	.	344	Q6NUN0	ACSM5_HUMAN	M	344	ENSP00000327916:L344M	ENSP00000327916:L344M	L	+	1	2	ACSM5	20348529	0.000000	0.05858	0.000000	0.03702	0.445000	0.32107	-1.866000	0.01647	-2.880000	0.00319	-1.159000	0.01794	CTG		0.562	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		18	86	1	0	1.99824e-07	0.00499	2.9693e-07	18	86				
ACSM2B	348158	broad.mit.edu	37	16	20554585	20554585	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:20554585C>A	ENST00000329697.6	-	11	1450		c.e11-1		ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000567001.1_Splice_Site|ACSM2B_ENST00000565232.1_Splice_Site|ACSM2B_ENST00000565322.1_Splice_Site	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B						fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CGGGATTTTCCTGGTGACCAC	0.483																																							uc002dhj.3		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.e12-1		acyl-CoA synthetase medium-chain family member							77.0	134.0	115.0					16																	20554585		2173	4300	6473	SO:0001630	splice_region_variant	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20554585C>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1282-1G>T	16.37:g.20554585C>A						ACSM2B_uc002dhk.3_Splice_Site_p.E428_splice|ACSM2B_uc010bwf.1_Splice_Site_p.E428_splice	p.E428_splice	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			12	1492	-								Q86YT1	Splice_Site	SNP	ENST00000329697.6	37	c.1282_splice	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	6.709	0.499429	0.12762	.	.	ENSG00000066813	ENST00000329697	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.639	0.68708	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACSM2B	20462086	1.000000	0.71417	0.632000	0.29296	0.025000	0.11179	5.586000	0.67503	1.819000	0.53055	0.609000	0.83330	.		0.483	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617	Intron	20	119	1	0	9.57634e-11	0.00333	1.63894e-10	20	119				
SCNN1G	6340	broad.mit.edu	37	16	23203735	23203735	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:23203735G>T	ENST00000300061.2	+	4	824	c.681G>T	c.(679-681)caG>caT	p.Q227H	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	227					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATGCCATTCAGGAGTGGTATA	0.502																																							uc002dlm.1		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(679-681)CAG>CAT		sodium channel, nonvoltage-gated 1, gamma	Amiloride(DB00594)|Triamterene(DB00384)						166.0	141.0	150.0					16																	23203735		2197	4300	6497	SO:0001583	missense	6340				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23203735G>T	U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.681G>T	16.37:g.23203735G>T	ENSP00000300061:p.Gln227His						p.Q227H	NM_001039	NP_001030	P51170	SCNNG_HUMAN		GBM - Glioblastoma multiforme(48;0.0366)	4	820	+			227			Extracellular (By similarity).		P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	c.681G>T	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	g	17.31	3.356899	0.61293	.	.	ENSG00000166828	ENST00000300061	T	0.72394	-0.65	5.2	1.08	0.20341	.	0.320112	0.30410	N	0.009695	T	0.70500	0.3231	L	0.43152	1.355	0.30758	N	0.744445	P	0.42203	0.773	P	0.54210	0.745	T	0.69135	-0.5225	10	0.46703	T	0.11	-39.1702	9.1651	0.37046	0.4476:0.0:0.5524:0.0	.	227	P51170	SCNNG_HUMAN	H	227	ENSP00000300061:Q227H	ENSP00000300061:Q227H	Q	+	3	2	SCNN1G	23111236	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	1.303000	0.33470	0.054000	0.16065	-0.227000	0.12334	CAG		0.502	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039		8	54	1	0	3.09899e-07	0.004482	4.56553e-07	8	54				
APOBR	55911	broad.mit.edu	37	16	28509075	28509075	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:28509075G>A	ENST00000431282.1	+	3	2696	c.2686G>A	c.(2686-2688)Ggg>Agg	p.G896R	APOBR_ENST00000564831.1_Missense_Mutation_p.G905R|CLN3_ENST00000569430.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.G896R|CLN3_ENST00000567160.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	896	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGGGCGGTGTGGGGACTACCA	0.617																																							uc002dqb.1		NA																	0					0						c.(2686-2688)GGG>AGG		apolipoprotein B48 receptor							22.0	28.0	26.0					16																	28509075		2116	4248	6364	SO:0001583	missense	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28509075G>A	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.2686G>A	16.37:g.28509075G>A	ENSP00000416094:p.Gly896Arg					uc010vct.1_Intron|APOB48R_uc010byg.1_Missense_Mutation_p.G434R	p.G896R	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN			3	2696	+			896			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	ENST00000431282.1	37	c.2686G>A		.	.	.	.	.	.	.	.	.	.	G	14.39	2.521570	0.44866	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	D;D	0.81821	-1.54;-1.54	3.94	1.72	0.24424	.	.	.	.	.	T	0.67933	0.2946	L	0.27053	0.805	0.09310	N	1	P;P	0.50943	0.94;0.461	B;B	0.43809	0.432;0.224	T	0.60352	-0.7280	9	0.87932	D	0	-5.7355	4.2502	0.10691	0.1245:0.0:0.6505:0.2249	.	896;896	Q0VD83;Q9NS13	APOBR_HUMAN;.	R	896	ENSP00000327669:G896R;ENSP00000416094:G896R	ENSP00000327669:G896R	G	+	1	0	APOBR	28416576	0.040000	0.19996	0.001000	0.08648	0.011000	0.07611	1.143000	0.31553	0.761000	0.33130	0.457000	0.33378	GGG		0.617	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		5	7	0	0	0	0.001168	0	5	7				
ITGAX	3687	broad.mit.edu	37	16	31382660	31382660	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:31382660G>T	ENST00000268296.4	+	16	1968	c.1847G>T	c.(1846-1848)aGa>aTa	p.R616I	ITGAX_ENST00000562522.1_Missense_Mutation_p.R616I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	616					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CGCAGGACCAGACCTGTGCTC	0.652																																							uc002ebu.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1846-1848)AGA>ATA		integrin alpha X precursor							45.0	39.0	41.0					16																	31382660		2197	4300	6497	SO:0001583	missense	3687				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	g.chr16:31382660G>T	BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"""CD molecules"", ""Complement system"", ""Integrins"""	6152	protein-coding gene	gene with protein product		151510	"""integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"""	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.1847G>T	16.37:g.31382660G>T	ENSP00000268296:p.Arg616Ile					ITGAX_uc002ebt.2_Missense_Mutation_p.R616I	p.R616I	NM_000887	NP_000878	P20702	ITAX_HUMAN			16	1914	+			616			FG-GAP 7.|Extracellular (Potential).		Q8IVA6	Missense_Mutation	SNP	ENST00000268296.4	37	c.1847G>T	CCDS10711.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460850	0.43736	.	.	ENSG00000140678	ENST00000268296	T	0.69806	-0.43	5.23	2.09	0.27110	Integrin alpha-2 (1);	.	.	.	.	T	0.72930	0.3522	M	0.68593	2.085	0.46631	D	0.999138	P	0.51653	0.947	P	0.60789	0.879	T	0.71593	-0.4546	9	0.87932	D	0	.	5.5193	0.16923	0.1775:0.0:0.6607:0.1617	.	616	P20702	ITAX_HUMAN	I	616	ENSP00000268296:R616I	ENSP00000268296:R616I	R	+	2	0	ITGAX	31290161	1.000000	0.71417	0.887000	0.34795	0.050000	0.14768	1.853000	0.39358	0.667000	0.31107	0.650000	0.86243	AGA		0.652	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255628.2	NM_000887		5	16	1	0	3.59834e-05	0.001168	4.69764e-05	5	16				
ABCC11	85320	broad.mit.edu	37	16	48249190	48249190	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:48249190G>T	ENST00000394747.1	-	7	1366	c.1017C>A	c.(1015-1017)atC>atA	p.I339I	ABCC11_ENST00000356608.2_Silent_p.I339I|ABCC11_ENST00000394748.1_Silent_p.I339I|ABCC11_ENST00000353782.5_Silent_p.I339I|ABCC11_ENST00000537808.1_Silent_p.I339I	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	339	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TGGTCACACGGATGCGCTGGT	0.438																																							uc002eff.1		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1015-1017)ATC>ATA		ATP-binding cassette, sub-family C, member 11							138.0	129.0	132.0					16																	48249190		2201	4300	6501	SO:0001819	synonymous_variant	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48249190G>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1017C>A	16.37:g.48249190G>T						ABCC11_uc002efg.1_Silent_p.I339I|ABCC11_uc002efh.1_Silent_p.I339I|ABCC11_uc010vgk.1_RNA	p.I339I	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			7	1367	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	339			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.1017C>A	CCDS10732.1																																																																																				0.438	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		4	50	1	0	0.00909568	0.009096	0.00988598	4	50				
COG4	25839	broad.mit.edu	37	16	70542344	70542344	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:70542344C>A	ENST00000323786.5	-	8	1047	c.1026G>T	c.(1024-1026)ctG>ctT	p.L342L		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	338					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AATTTCTCATCAGGTTGTTCT	0.408																																							uc002ezc.2		NA																	0					0						c.(1024-1026)CTG>CTT		component of oligomeric golgi complex 4							188.0	175.0	180.0					16																	70542344		2198	4300	6498	SO:0001819	synonymous_variant	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70542344C>A	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1026G>T	16.37:g.70542344C>A						COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Silent_p.L342L|COG4_uc002eze.2_Silent_p.L36L	p.L342L	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN			8	1037	-		Ovarian(137;0.0694)	338					B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Silent	SNP	ENST00000323786.5	37	c.1026G>T	CCDS10892.2																																																																																				0.408	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			10	21	1	0	4.68919e-08	0.008291	7.18522e-08	10	21				
VAT1L	57687	broad.mit.edu	37	16	77918688	77918688	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:77918688G>A	ENST00000302536.2	+	7	1219	c.1066G>A	c.(1066-1068)Gct>Act	p.A356T		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	356							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CTCCTTGTGGGCTCTGGAGGA	0.473																																							uc002ffg.1		NA																	0				central_nervous_system(1)	1						c.(1066-1068)GCT>ACT		vesicle amine transport protein 1 homolog (T.							36.0	38.0	38.0					16																	77918688		2198	4300	6498	SO:0001583	missense	57687						oxidoreductase activity|zinc ion binding	g.chr16:77918688G>A	AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.1066G>A	16.37:g.77918688G>A	ENSP00000303129:p.Ala356Thr						p.A356T	NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN			7	1163	+			356					Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	c.1066G>A	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.193833	0.78902	.	.	ENSG00000171724	ENST00000302536	T	0.08634	3.07	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.28034	0.0691	L	0.55103	1.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00021	-1.2346	10	0.59425	D	0.04	-4.3055	20.1963	0.98243	0.0:0.0:1.0:0.0	.	356	Q9HCJ6	VAT1L_HUMAN	T	356	ENSP00000303129:A356T	ENSP00000303129:A356T	A	+	1	0	VAT1L	76476189	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.878000	0.98634	0.650000	0.86243	GCT		0.473	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927		4	12	0	0	0	0.009096	0	4	12				
CRISPLD2	83716	broad.mit.edu	37	16	84906612	84906612	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:84906612C>T	ENST00000262424.5	+	10	1220	c.996C>T	c.(994-996)tgC>tgT	p.C332C	CRISPLD2_ENST00000564567.1_Silent_p.C332C|CRISPLD2_ENST00000567845.1_Silent_p.C331C	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	332	LCCL 1. {ECO:0000255|PROSITE- ProRule:PRU00123}.				extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)	p.C332C(1)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CTAGCATATGCCGCGCCGCCA	0.542																																							uc010voh.1		NA																	1	Substitution - coding silent(1)		prostate(1)		0						c.(994-996)TGC>TGT		cysteine-rich secretory protein LCCL domain							104.0	101.0	102.0					16																	84906612		2199	4300	6499	SO:0001819	synonymous_variant	83716					extracellular region|transport vesicle		g.chr16:84906612C>T	AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"""LCCL domain containing cysteine-rich secretory protein 2"""	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.996C>T	16.37:g.84906612C>T						CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Silent_p.C331C|CRISPLD2_uc002fim.2_Silent_p.C332C|CRISPLD2_uc002fin.3_Silent_p.C332C	p.C332C	NM_031476	NP_113664	Q9H0B8	CRLD2_HUMAN			10	1223	+			332			LCCL 1.		D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Silent	SNP	ENST00000262424.5	37	c.996C>T	CCDS10949.1																																																																																				0.542	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269086.2	NM_031476		4	97	0	0	0	0.009096	0	4	97				
ZCCHC14	23174	broad.mit.edu	37	16	87445200	87445200	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr16:87445200G>C	ENST00000268616.4	-	12	2933	c.2716C>G	c.(2716-2718)Cta>Gta	p.L906V		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	906							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TAACAAGATAGGTTCCCGCTC	0.607																																							uc002fjz.1		NA																	0				upper_aerodigestive_tract(1)|breast(1)	2						c.(2716-2718)CTA>GTA		zinc finger, CCHC domain containing 14							86.0	77.0	80.0					16																	87445200		2198	4300	6498	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87445200G>C	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2716C>G	16.37:g.87445200G>C	ENSP00000268616:p.Leu906Val					ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.L682V	p.L906V	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	2743	-			906			CCHC-type.		D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.2716C>G	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.305757	0.01353	.	.	ENSG00000140948	ENST00000268616	T	0.76316	-1.01	5.55	2.39	0.29439	.	0.076259	0.52532	D	0.000066	T	0.51041	0.1651	N	0.08118	0	0.23959	N	0.996348	P;B	0.40619	0.724;0.333	B;B	0.39660	0.292;0.306	T	0.55490	-0.8133	10	0.02654	T	1	-27.6703	7.7444	0.28860	0.1366:0.2495:0.6139:0.0	.	906;906	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	V	906	ENSP00000268616:L906V	ENSP00000268616:L906V	L	-	1	2	ZCCHC14	86002701	0.988000	0.35896	0.006000	0.13384	0.780000	0.44128	1.149000	0.31626	0.338000	0.23692	0.655000	0.94253	CTA		0.607	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		14	77	0	0	0	0.001855	0	14	77				
MYO1C	4641	broad.mit.edu	37	17	1384168	1384169	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:1384168_1384169CA>AG	ENST00000575158.1	-	6	709_710	c.533_534TG>CT	c.(532-534)gTG>gCT	p.V178A	MYO1C_ENST00000545534.2_Missense_Mutation_p.V189A|MYO1C_ENST00000573198.1_5'UTR|MYO1C_ENST00000359786.5_Missense_Mutation_p.V213A|MYO1C_ENST00000438665.2_Missense_Mutation_p.V194A|MYO1C_ENST00000361007.2_Missense_Mutation_p.V178A			Q12965	MYO1E_HUMAN	myosin IC	185	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGTGGCCACCCACGGGGGCACC	0.634																																							uc002fsp.2		NA																	0					0						c.(637-639)GTG>GCT		myosin IC isoform a																																				SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1384168_1384169CA>AG	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.533_534delinsAG	17.37:g.1384168_1384169delinsAG	ENSP00000459174:p.Val178Ala					MYO1C_uc002fsn.2_Missense_Mutation_p.V194A|MYO1C_uc002fso.2_Missense_Mutation_p.V178A|MYO1C_uc010vqj.1_Missense_Mutation_p.V178A|MYO1C_uc010vqk.1_Missense_Mutation_p.V189A	p.V213A	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	6	858_859	-			213			Myosin head-like.		Q14778	Missense_Mutation	DNP	ENST00000575158.1	37	c.638_639TG>CT	CCDS11003.1																																																																																				0.634	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			5	61	0	0	0	0.004672	0	5	61				
NEURL4	84461	broad.mit.edu	37	17	7224528	7224528	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:7224528C>A	ENST00000399464.2	-	20	3278	c.3263G>T	c.(3262-3264)aGa>aTa	p.R1088I	RP11-542C16.2_ENST00000575474.1_5'Flank|NEURL4_ENST00000315614.7_Missense_Mutation_p.R1086I|NEURL4_ENST00000570460.1_Missense_Mutation_p.R1064I|NEURL4_ENST00000574120.1_5'Flank	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1088						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCTCCAGTCTCGTGGAACT	0.592																																							uc002gga.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(3262-3264)AGA>ATA		neuralized homolog 4 isoform 1							69.0	73.0	72.0					17																	7224528		2179	4271	6450	SO:0001583	missense	84461						protein binding	g.chr17:7224528C>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3263G>T	17.37:g.7224528C>A	ENSP00000382390:p.Arg1088Ile					NEURL4_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|NEURL4_uc002ggb.1_Missense_Mutation_p.R1086I	p.R1088I	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN			20	3270	-			1088					Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.3263G>T	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	0.992	-0.693618	0.03303	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.30448	1.54;1.53	4.73	0.937	0.19494	.	0.323029	0.26915	N	0.021856	T	0.10937	0.0267	N	0.08118	0	0.09310	N	0.999998	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.002	T	0.12400	-1.0549	10	0.27082	T	0.32	-21.016	1.1627	0.01809	0.2423:0.4255:0.1287:0.2034	.	1086;1088	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	I	1086;1088	ENSP00000319826:R1086I;ENSP00000382390:R1088I	ENSP00000319826:R1086I	R	-	2	0	NEURL4	7165252	0.001000	0.12720	0.002000	0.10522	0.021000	0.10359	1.114000	0.31196	0.481000	0.27557	-0.217000	0.12591	AGA		0.592	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		6	11	1	0	0.00116845	0.001168	0.00134655	6	11				
TP53	7157	broad.mit.edu	37	17	7574026	7574026	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:7574026C>A	ENST00000269305.4	-	10	1190	c.1001G>T	c.(1000-1002)gGg>gTg	p.G334V	TP53_ENST00000445888.2_Missense_Mutation_p.G334V|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron	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	334	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		G -> V (in sporadic cancers; somatic mutation).|G -> W (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G334V(7)|p.I332fs*5(1)|p.?(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)	GCGCTCACGCCCACGGATCTG	0.522		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		17	Whole gene deletion(8)|Substitution - Missense(7)|Unknown(1)|Deletion - Frameshift(1)	p.0?(7)|p.G334V(3)|p.I332fs*5(1)|p.G334W(1)|p.?(1)	lung(6)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|upper_aerodigestive_tract(1)|large_intestine(1)|stomach(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.(1000-1002)GGG>GTG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	40.0	44.0					17																	7574026		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7574026C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1001G>T	17.37:g.7574026C>A	ENSP00000269305:p.Gly334Val	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_Intron|TP53_uc002gih.2_Intron|TP53_uc010cne.1_Intron|TP53_uc010cnf.1_3'UTR|TP53_uc010cng.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.G202V|TP53_uc010cnh.1_3'UTR|TP53_uc010cni.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.G334V	p.G334V	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	10	1195	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	334		G -> W (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Oligomerization.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.|Interaction with HIPK2.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.1001G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592462	0.66219	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.99910	-7.91;-7.91	5.43	5.43	0.79202	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.99915	0.9960	M	0.89715	3.055	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.95999	0.8992	10	0.87932	D	0	-30.4955	16.7337	0.85442	0.0:1.0:0.0:0.0	.	334	P04637	P53_HUMAN	V	334;334;323	ENSP00000269305:G334V;ENSP00000391478:G334V	ENSP00000269305:G334V	G	-	2	0	TP53	7514751	1.000000	0.71417	0.959000	0.39883	0.250000	0.25880	6.452000	0.73485	2.549000	0.85964	0.561000	0.74099	GGG		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		7	22	1	0	1.76689e-08	0.006214	2.74407e-08	7	22				
MYH1	4619	broad.mit.edu	37	17	10399347	10399347	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:10399347C>A	ENST00000226207.5	-	35	5183	c.5089G>T	c.(5089-5091)Gaa>Taa	p.E1697*	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1697					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTGTCTGTTCCAGAGTGGCC	0.572																																							uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(5089-5091)GAA>TAA		myosin, heavy chain 1, skeletal muscle, adult							93.0	85.0	87.0					17																	10399347		2203	4300	6503	SO:0001587	stop_gained	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399347C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5089G>T	17.37:g.10399347C>A	ENSP00000226207:p.Glu1697*					uc002gml.1_Intron	p.E1697*	NM_005963	NP_005954	P12882	MYH1_HUMAN			35	5183	-			1697			Potential.		Q14CA4|Q9Y622	Nonsense_Mutation	SNP	ENST00000226207.5	37	c.5089G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	44	11.247736	0.99537	.	.	ENSG00000109061	ENST00000226207	.	.	.	5.53	5.53	0.82687	.	0.000000	0.43416	U	0.000566	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.8241	0.96610	0.0:1.0:0.0:0.0	.	.	.	.	X	1697	.	ENSP00000226207:E1697X	E	-	1	0	MYH1	10340072	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.643000	0.83403	2.758000	0.94735	0.655000	0.94253	GAA		0.572	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		6	36	1	0	2.0095e-06	0.001984	2.82727e-06	6	36				
DNAH9	1770	broad.mit.edu	37	17	11835517	11835517	+	Missense_Mutation	SNP	G	G	A	rs201738395		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:11835517G>A	ENST00000262442.4	+	64	12360	c.12292G>A	c.(12292-12294)Gca>Aca	p.A4098T	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.A4022T|DNAH9_ENST00000608377.1_Missense_Mutation_p.A410T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4098					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGAGGCCAACGCAAAGGTAAA	0.498																																							uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(12292-12294)GCA>ACA		dynein, axonemal, heavy chain 9 isoform 2							79.0	70.0	73.0					17																	11835517		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.chr17:11835517G>A	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.12292G>A	17.37:g.11835517G>A	ENSP00000262442:p.Ala4098Thr					DNAH9_uc010coo.2_Missense_Mutation_p.A3316T|DNAH9_uc002gnf.2_Missense_Mutation_p.A410T	p.A4098T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	64	12360	+		Breast(5;0.0122)|all_epithelial(5;0.131)	4098					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.12292G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	0.745	-0.774981	0.02951	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.08458	3.09;3.09;3.09	4.72	0.487	0.16842	Dynein heavy chain (1);	0.797034	0.10903	N	0.621425	T	0.03827	0.0108	N	0.21240	0.645	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.46048	-0.9219	10	0.07030	T	0.85	.	0.7673	0.01017	0.3397:0.1259:0.3411:0.1933	.	4098	Q9NYC9	DYH9_HUMAN	T	4098;4022;2604;410	ENSP00000262442:A4098T;ENSP00000414874:A4022T;ENSP00000379323:A410T	ENSP00000262442:A4098T	A	+	1	0	DNAH9	11776242	0.000000	0.05858	0.028000	0.17463	0.829000	0.46940	-1.299000	0.02754	-0.019000	0.14055	0.655000	0.94253	GCA		0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		7	23	0	0	0	0.00308	0	7	23				
PHF12	57649	broad.mit.edu	37	17	27251018	27251018	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:27251018C>T	ENST00000332830.4	-	4	1434	c.624G>A	c.(622-624)cgG>cgA	p.R208R	PHF12_ENST00000577226.1_Silent_p.R208R|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Silent_p.R208R|RP11-20B24.5_ENST00000580782.1_RNA|RP11-20B24.5_ENST00000582631.1_RNA	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCTCAAAGGGCCGCCTCAGCT	0.562																																							uc002hdg.1		NA																	0				ovary(1)	1						c.(622-624)CGG>CGA		PHD finger protein 12 isoform 1							63.0	53.0	56.0					17																	27251018		2203	4300	6503	SO:0001819	synonymous_variant	57649				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	g.chr17:27251018C>T	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.624G>A	17.37:g.27251018C>T						PHF12_uc010wbb.1_Silent_p.R190R|PHF12_uc002hdi.1_Silent_p.R204R|PHF12_uc002hdj.1_Silent_p.R208R|PHF12_uc010crw.1_Intron|uc002hdl.2_5'Flank|PHF12_uc002hdh.1_5'UTR	p.R208R	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)		4	1154	-	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		208			Interaction with SIN3A.			Silent	SNP	ENST00000332830.4	37	c.624G>A	CCDS32598.1																																																																																				0.562	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889		11	21	0	0	0	0.010729	0	11	21				
EVI2B	2124	broad.mit.edu	37	17	29632168	29632169	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:29632168_29632169GG>TT	ENST00000330927.4	-	2	613_614	c.459_460CC>AA	c.(457-462)gtCCag>gtAAag	p.Q154K	NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.Q169K|EVI2B_ENST00000577894.1_Missense_Mutation_p.Q154K|NF1_ENST00000358273.4_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	154						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GAAGGGATCTGGACAGATGATG	0.406																																							uc002hgk.2		NA																	11	Whole gene deletion(8)|Unknown(3)		soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	ovary(2)	2						c.(457-462)GTCCAG>GTAAAG		ecotropic viral integration site 2B precursor																																				SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29632168_29632169GG>TT		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.459_460delinsTT	17.37:g.29632168_29632169delinsTT	ENSP00000333779:p.Gln154Lys					NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.Q169K	p.Q154K	NM_006495	NP_006486	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	614_615	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	154			Extracellular (Potential).		B7Z4A7	Missense_Mutation	DNP	ENST00000330927.4	37	c.459_460CC>AA	CCDS11266.1																																																																																				0.406	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495		22	122	0	0	0	0.004672	0	22	122				
ACACA	31	broad.mit.edu	37	17	35627714	35627714	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:35627714G>A	ENST00000394406.2	-	10	1126	c.936C>T	c.(934-936)gcC>gcT	p.A312A	ACACA_ENST00000353139.5_Silent_p.A349A|ACACA_ENST00000360679.3_Silent_p.A254A|ACACA_ENST00000335166.5_Silent_p.A234A	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	312	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCCCTCTGAGGCCTTGATCA	0.388																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(934-936)GCC>GCT		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						236.0	225.0	229.0					17																	35627714		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35627714G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.936C>T	17.37:g.35627714G>A						ACACA_uc002hnk.2_Silent_p.A234A|ACACA_uc002hnl.2_Silent_p.A254A|ACACA_uc002hnn.2_Silent_p.A312A|ACACA_uc002hno.2_Silent_p.A349A|ACACA_uc010cuz.2_Silent_p.A312A	p.A312A	NM_198836	NP_942133	Q13085	ACACA_HUMAN			10	1127	-		Breast(25;0.00157)|Ovarian(249;0.15)	312			Biotin carboxylation.|ATP-grasp.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.936C>T	CCDS11317.1																																																																																				0.388	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		33	127	0	0	0	0.013726	0	33	127				
KRT10	3858	broad.mit.edu	37	17	38978715	38978715	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:38978715G>T	ENST00000269576.5	-	1	132	c.123C>A	c.(121-123)ggC>ggA	p.G41G	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	41	Gly-rich.|Head.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CACCAAGGGAGCCTTTGCTGC	0.582																																							uc002hvi.2		NA																	0					0						c.(121-123)GGC>GGA		keratin 10							68.0	66.0	66.0					17																	38978715		2203	4300	6503	SO:0001819	synonymous_variant	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38978715G>T	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.123C>A	17.37:g.38978715G>T						KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron	p.G41G	NM_000421	NP_000412	P13645	K1C10_HUMAN			1	149	-		Breast(137;0.000301)	41			Head.|Gly-rich.		Q14664|Q8N175	Silent	SNP	ENST00000269576.5	37	c.123C>A	CCDS11377.1																																																																																				0.582	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		9	30	1	0	0.000274275	0.004482	0.000331637	9	30				
KRT34	3885	broad.mit.edu	37	17	39537424	39537424	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:39537424C>A	ENST00000394001.1	-	3	628	c.598G>T	c.(598-600)Gac>Tac	p.D200Y		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	200	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CTGTTGATGTCCGACTCCACC	0.567																																							uc002hwm.2		NA																	0				central_nervous_system(1)	1						c.(598-600)GAC>TAC		keratin 34							145.0	119.0	128.0					17																	39537424		2203	4300	6503	SO:0001583	missense	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39537424C>A	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.598G>T	17.37:g.39537424C>A	ENSP00000377570:p.Asp200Tyr						p.D200Y	NM_021013	NP_066293	O76011	KRT34_HUMAN			3	610	-		Breast(137;0.000496)	200			Rod.|Coil 1B.		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	c.598G>T	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	c	18.19	3.569602	0.65765	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.52	5.52	0.82312	Filament (1);	0.000000	0.64402	D	0.000002	D	0.90273	0.6958	H	0.97611	4.04	0.53005	D	0.99996	D	0.89917	1.0	D	0.91635	0.999	D	0.93445	0.6797	9	0.87932	D	0	.	18.419	0.90582	0.0:1.0:0.0:0.0	.	200	O76011	KRT34_HUMAN	Y	158;200	.	ENSP00000251648:D200Y	D	-	1	0	KRT34	36790950	1.000000	0.71417	0.948000	0.38648	0.195000	0.23768	7.401000	0.79962	2.606000	0.88127	0.655000	0.94253	GAC		0.567	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		12	53	1	0	0.000978159	0.010729	0.00113486	12	53				
KRT38	8687	broad.mit.edu	37	17	39596834	39596834	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:39596834G>A	ENST00000246646.3	-	1	339	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	114	Coil 1A.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R114G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TTGGCCAGGCGGTCATTCAGG	0.582																																							uc002hwq.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(340-342)CGC>TGC		keratin 38							133.0	117.0	122.0					17																	39596834		2203	4300	6503	SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39596834G>A	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.340C>T	17.37:g.39596834G>A	ENSP00000246646:p.Arg114Cys						p.R114C	NM_006771	NP_006762	O76015	KRT38_HUMAN			1	763	-		Breast(137;0.000496)	114			Coil 1A.|Rod.		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	c.340C>T	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700013	0.68501	.	.	ENSG00000171360	ENST00000246646	D	0.94138	-3.36	4.45	4.45	0.53987	Filament (1);	0.000000	0.49916	D	0.000136	D	0.93588	0.7953	M	0.88105	2.93	0.58432	D	0.999999	P	0.43352	0.804	B	0.37239	0.244	D	0.95135	0.8258	10	0.87932	D	0	.	15.8272	0.78718	0.0:0.0:1.0:0.0	.	114	O76015	KRT38_HUMAN	C	114	ENSP00000246646:R114C	ENSP00000246646:R114C	R	-	1	0	KRT38	36850360	1.000000	0.71417	0.854000	0.33618	0.985000	0.73830	5.426000	0.66476	2.306000	0.77630	0.650000	0.86243	CGC		0.582	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		20	71	0	0	0	0.008871	0	20	71				
KRT13	3860	broad.mit.edu	37	17	39661464	39661464	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:39661464G>A	ENST00000246635.3	-	1	385	c.339C>T	c.(337-339)gaC>gaT	p.D113D	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_Silent_p.D113D|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000587544.1_Silent_p.D113D	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	113	Coil 1A.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				AAGCCAGGCGGTCGTTGAGGT	0.587																																							uc002hwu.1		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(337-339)GAC>GAT		keratin 13 isoform a							168.0	164.0	166.0					17																	39661464		2203	4300	6503	SO:0001819	synonymous_variant	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39661464G>A		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.339C>T	17.37:g.39661464G>A						KRT13_uc002hwv.1_Silent_p.D113D|KRT13_uc002hww.2_Silent_p.D6D|KRT13_uc010wfr.1_Silent_p.D6D|KRT13_uc010cxo.2_Silent_p.D113D|KRT13_uc002hwx.1_Silent_p.D101D	p.D113D	NM_153490	NP_705694	P13646	K1C13_HUMAN			1	402	-		Breast(137;0.000286)	113			Coil 1A.|Rod.		Q53G54|Q6AZK5|Q8N240	Silent	SNP	ENST00000246635.3	37	c.339C>T	CCDS11396.1																																																																																				0.587	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		19	78	0	0	0	0.008871	0	19	78				
GFAP	2670	broad.mit.edu	37	17	42992462	42992462	+	Silent	SNP	G	G	C	rs370807952		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:42992462G>C	ENST00000253408.5	-	1	458	c.393C>G	c.(391-393)acC>acG	p.T131T	GFAP_ENST00000586793.1_Silent_p.T131T|GFAP_ENST00000435360.2_Silent_p.T131T|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	131	Coil 1B.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CGCTGTTGGCGGTGAGTTGAT	0.652																																							uc002ihq.2		NA																	0				ovary(1)|pancreas(1)	2						c.(391-393)ACC>ACG		glial fibrillary acidic protein isoform 1							36.0	36.0	36.0					17																	42992462		2203	4300	6503	SO:0001819	synonymous_variant	2670					cytoplasm|intermediate filament	structural constituent of cytoskeleton	g.chr17:42992462G>C	S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.393C>G	17.37:g.42992462G>C						GFAP_uc002ihr.2_Silent_p.T131T|GFAP_uc010wjg.1_RNA	p.T131T	NM_002055	NP_002046	P14136	GFAP_HUMAN			1	453	-		Prostate(33;0.0959)	131			Rod.|Coil 1B.		B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Silent	SNP	ENST00000253408.5	37	c.393C>G	CCDS11491.1																																																																																				0.652	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448701.1	NM_002055		5	27	0	0	0	0.001168	0	5	27				
PRR11	55771	broad.mit.edu	37	17	57275120	57275120	+	Silent	SNP	G	G	A	rs573895797		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:57275120G>A	ENST00000262293.4	+	9	1296	c.984G>A	c.(982-984)gtG>gtA	p.V328V	CTD-2510F5.6_ENST00000577660.1_Silent_p.V35V	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	328						cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TGACTCCAGTGATGACGCAGG	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		19306	0.0		0.0	False		,,,				2504	0.001						uc002ixf.1		NA																	0				ovary(2)	2						c.(982-984)GTG>GTA		proline rich 11							103.0	110.0	108.0					17																	57275120		2203	4300	6503	SO:0001819	synonymous_variant	55771							g.chr17:57275120G>A		CCDS11614.1	17q23.2	2005-12-13				ENSG00000068489			25619	protein-coding gene	gene with protein product		615920				11799066	Standard	NM_018304		Approved	FLJ11029	uc002ixf.2	Q96HE9		ENST00000262293.4:c.984G>A	17.37:g.57275120G>A						PRR11_uc002ixg.1_RNA	p.V328V	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN			9	1063	+	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		328					Q9NUZ7|Q9NXE9	Silent	SNP	ENST00000262293.4	37	c.984G>A	CCDS11614.1																																																																																				0.428	PRR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445949.1	NM_018304		6	63	0	0	0	0.00308	0	6	63				
MED13	9969	broad.mit.edu	37	17	60042440	60042440	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:60042440C>A	ENST00000397786.2	-	20	4847	c.4771G>T	c.(4771-4773)Gct>Tct	p.A1591S		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1591					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTCTGTAGAGCTGATGTCTGT	0.453																																							uc002izo.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(4771-4773)GCT>TCT		mediator complex subunit 13							89.0	90.0	90.0					17																	60042440		1990	4176	6166	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60042440C>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4771G>T	17.37:g.60042440C>A	ENSP00000380888:p.Ala1591Ser						p.A1591S	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			20	4848	-			1591					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.4771G>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	6.744	0.506085	0.12883	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.73681	-0.77	5.95	-0.535	0.11879	.	1.018440	0.07776	N	0.952517	T	0.45236	0.1332	N	0.08118	0	0.09310	N	0.999991	B	0.02656	0.0	B	0.04013	0.001	T	0.35251	-0.9796	10	0.02654	T	1	-28.3855	3.98	0.09490	0.1139:0.5197:0.107:0.2594	.	1591	Q9UHV7	MED13_HUMAN	S	1591;1590	ENSP00000380888:A1591S	ENSP00000262436:A1590S	A	-	1	0	MED13	57397222	0.923000	0.31300	0.888000	0.34837	0.419000	0.31324	-0.069000	0.11542	-0.144000	0.11314	-0.813000	0.03139	GCT		0.453	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		9	34	1	0	1.12685e-05	0.004482	1.53216e-05	9	34				
EFCAB3	146779	broad.mit.edu	37	17	60460396	60460396	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:60460396C>G	ENST00000305286.3	+	2	134	c.56C>G	c.(55-57)cCc>cGc	p.P19R	EFCAB3_ENST00000450662.2_Missense_Mutation_p.P71R|RNU7-52P_ENST00000516172.1_RNA	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	19							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			ACAAAAGTACCCATCTCCCAC	0.323																																							uc002izu.1		NA																	0				skin(1)	1						c.(55-57)CCC>CGC		EF-hand calcium binding domain 3 isoform b							73.0	66.0	69.0					17																	60460396		2203	4300	6503	SO:0001583	missense	146779						calcium ion binding	g.chr17:60460396C>G	AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.56C>G	17.37:g.60460396C>G	ENSP00000302649:p.Pro19Arg					EFCAB3_uc010wpc.1_Missense_Mutation_p.P71R	p.P19R	NM_173503	NP_775774	Q8N7B9	EFCB3_HUMAN	BRCA - Breast invasive adenocarcinoma(2;2.27e-11)		2	134	+			19					J3KQM8	Missense_Mutation	SNP	ENST00000305286.3	37	c.56C>G	CCDS11632.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902793	0.52227	.	.	ENSG00000172421	ENST00000450662;ENST00000305286;ENST00000520404;ENST00000518576	T;T;T;T	0.60797	0.22;0.18;0.16;0.17	5.2	5.2	0.72013	.	0.280456	0.26082	N	0.026455	T	0.72771	0.3502	M	0.64997	1.995	0.41912	D	0.990477	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.75141	-0.3422	10	0.87932	D	0	.	14.1084	0.65107	0.0:1.0:0.0:0.0	.	19;19	E5RJB7;Q8N7B9	.;EFCB3_HUMAN	R	71;19;19;19	ENSP00000403932:P71R;ENSP00000302649:P19R;ENSP00000429124:P19R;ENSP00000428626:P19R	ENSP00000302649:P19R	P	+	2	0	EFCAB3	57814128	0.992000	0.36948	0.997000	0.53966	0.556000	0.35491	3.347000	0.52200	2.699000	0.92147	0.655000	0.94253	CCC		0.323	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379114.1	NM_173503		7	25	0	0	0	0.001984	0	7	25				
MRC2	9902	broad.mit.edu	37	17	60749477	60749477	+	Silent	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:60749477G>C	ENST00000303375.5	+	8	1827	c.1425G>C	c.(1423-1425)cgG>cgC	p.R475R		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	475	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						ACAACTTCCGGGACAGTCTGG	0.572																																							uc002jad.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1423-1425)CGG>CGC		mannose receptor, C type 2							90.0	86.0	87.0					17																	60749477		2203	4300	6503	SO:0001819	synonymous_variant	9902				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr17:60749477G>C	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.1425G>C	17.37:g.60749477G>C						MRC2_uc002jac.2_Silent_p.R475R	p.R475R	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN			8	1827	+			475			Extracellular (Potential).|C-type lectin 2.		A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Silent	SNP	ENST00000303375.5	37	c.1425G>C	CCDS11634.1																																																																																				0.572	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445152.1			13	71	0	0	0	0.00245	0	13	71				
SCN4A	6329	broad.mit.edu	37	17	62018249	62018249	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:62018249G>T	ENST00000435607.1	-	24	5469	c.5393C>A	c.(5392-5394)gCa>gAa	p.A1798E	SCN4A_ENST00000578147.1_Missense_Mutation_p.A1798E	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1798					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGCGTCCCCTGCCTCGCCCTT	0.667																																							uc002jds.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(5392-5394)GCA>GAA		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						37.0	44.0	41.0					17																	62018249		2110	4199	6309	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62018249G>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.5393C>A	17.37:g.62018249G>T	ENSP00000396320:p.Ala1798Glu						p.A1798E	NM_000334	NP_000325	P35499	SCN4A_HUMAN			24	5470	-			1798					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.5393C>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	G	4.092	0.015065	0.07959	.	.	ENSG00000007314	ENST00000435607	D	0.96427	-4.01	4.1	4.1	0.47936	.	.	.	.	.	D	0.90490	0.7021	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.83716	0.0190	9	0.59425	D	0.04	.	12.0012	0.53232	0.0:0.0:1.0:0.0	.	1798	P35499	SCN4A_HUMAN	E	1798	ENSP00000396320:A1798E	ENSP00000396320:A1798E	A	-	2	0	SCN4A	59371981	0.003000	0.15002	0.004000	0.12327	0.025000	0.11179	1.229000	0.32600	2.282000	0.76494	0.462000	0.41574	GCA		0.667	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		13	20	1	0	9.05144e-12	0.001855	1.58862e-11	13	20				
ABCA9	10350	broad.mit.edu	37	17	67022604	67022604	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:67022604C>T	ENST00000340001.4	-	16	2266	c.2055G>A	c.(2053-2055)agG>agA	p.R685R	ABCA9_ENST00000370732.2_Silent_p.R685R|ABCA9_ENST00000453985.2_Silent_p.R685R	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	685	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGAACACCTTCCTGTCTAGTT	0.368																																							uc002jhu.2		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(2053-2055)AGG>AGA		ATP-binding cassette, sub-family A, member 9							173.0	167.0	169.0					17																	67022604		2203	4300	6503	SO:0001819	synonymous_variant	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67022604C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.2055G>A	17.37:g.67022604C>T						ABCA9_uc010dez.2_Silent_p.R685R	p.R685R	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			16	2198	-	Breast(10;1.47e-12)		685			ABC transporter 1.		Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Silent	SNP	ENST00000340001.4	37	c.2055G>A	CCDS11681.1																																																																																				0.368	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		5	114	0	0	0	0.000602	0	5	114				
CD300E	342510	broad.mit.edu	37	17	72619802	72619802	+	5'Flank	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:72619802C>A	ENST00000328630.3	-	0	0				CD300E_ENST00000426295.2_Nonsense_Mutation_p.G28*|CD300E_ENST00000392619.1_Nonsense_Mutation_p.G14*			Q496F6	CLM2_HUMAN	CD300e molecule						innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						AATCTAGGTCCCAGCTGGAAT	0.502																																							uc002jlb.1		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.e1-1		CD300e molecule precursor							87.0	84.0	85.0					17																	72619802		2203	4300	6503	SO:0001631	upstream_gene_variant	342510					integral to membrane|plasma membrane	receptor activity	g.chr17:72619802C>A	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605		17.37:g.72619802C>A	Exception_encountered							NM_181449	NP_852114	Q496F6	CLM2_HUMAN			1	1	-								B4DNS1|Q7Z7I3	Splice_Site	SNP	ENST00000328630.3	37	c.-40_splice	CCDS11702.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350439	0.82132	.	.	ENSG00000186407	ENST00000392619;ENST00000426295	.	.	.	3.87	1.78	0.24846	.	.	.	.	.	.	.	.	.	.	.	0.21290	N	0.99973	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	4.441	0.11573	0.0:0.6155:0.253:0.1315	.	.	.	.	X	14;28	.	ENSP00000376395:G14X	G	-	1	0	CD300E	70131397	0.000000	0.05858	0.026000	0.17262	0.030000	0.12068	-0.106000	0.10890	0.885000	0.36088	0.436000	0.28706	GGA		0.502	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		13	51	1	0	0.00010058	0.013537	0.000125588	13	51				
RNF157	114804	broad.mit.edu	37	17	74158669	74158669	+	Silent	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:74158669A>G	ENST00000269391.6	-	9	888	c.756T>C	c.(754-756)taT>taC	p.Y252Y	RNF157_ENST00000319945.6_Silent_p.Y252Y	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	252							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TTTCAATTCCATAGATCTCCT	0.443																																					GBM(186;507 2120 27388 27773 52994)	GBM(186;507 2120 27388 27773 52994)	uc002jqz.2		NA																	0				ovary(1)	1						c.(754-756)TAT>TAC		ring finger protein 157							124.0	106.0	112.0					17																	74158669		2203	4300	6503	SO:0001819	synonymous_variant	114804						zinc ion binding	g.chr17:74158669A>G	AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.756T>C	17.37:g.74158669A>G						RNF157_uc002jra.2_Silent_p.Y252Y	p.Y252Y	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		9	825	-			252					Q8NB72|Q96N56	Silent	SNP	ENST00000269391.6	37	c.756T>C	CCDS32740.1																																																																																				0.443	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255874.2	XM_290732		10	21	0	0	0	0.008291	0	10	21				
FN3KRP	79672	broad.mit.edu	37	17	80684833	80684833	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr17:80684833A>G	ENST00000269373.6	+	6	789	c.716A>G	c.(715-717)tAc>tGc	p.Y239C	FN3KRP_ENST00000535965.1_Missense_Mutation_p.Y189C|RP11-388C12.5_ENST00000570919.1_lincRNA	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	239							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GCTTCTTTCTACGGCCACTCG	0.562																																							uc002kfu.2		NA																	0					0						c.(715-717)TAC>TGC		fructosamine 3 kinase related protein							61.0	64.0	63.0					17																	80684833		2203	4300	6503	SO:0001583	missense	79672						kinase activity	g.chr17:80684833A>G	AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.716A>G	17.37:g.80684833A>G	ENSP00000269373:p.Tyr239Cys					FN3KRP_uc010wvr.1_Missense_Mutation_p.Y189C	p.Y239C	NM_024619	NP_078895	Q9HA64	KT3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		6	766	+	Breast(20;0.000523)|all_neural(118;0.0952)		239					Q969F4|Q9H0U7	Missense_Mutation	SNP	ENST00000269373.6	37	c.716A>G	CCDS11817.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.772366	0.49680	.	.	ENSG00000141560	ENST00000269373;ENST00000535965	T;T	0.58940	0.3;0.3	5.82	4.74	0.60224	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81945	0.4930	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85886	0.1425	10	0.87932	D	0	-25.003	12.1448	0.54018	0.8715:0.0:0.0:0.1285	.	239	Q9HA64	KT3K_HUMAN	C	239;189	ENSP00000269373:Y239C;ENSP00000444994:Y189C	ENSP00000269373:Y239C	Y	+	2	0	FN3KRP	78278122	1.000000	0.71417	0.803000	0.32268	0.162000	0.22319	9.105000	0.94246	1.022000	0.39626	-0.301000	0.09380	TAC		0.562	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439219.1	NM_024619		15	52	0	0	0	0.003163	0	15	52				
ANKRD12	23253	broad.mit.edu	37	18	9254231	9254231	+	Silent	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:9254231A>T	ENST00000262126.4	+	9	1206	c.966A>T	c.(964-966)gtA>gtT	p.V322V	ANKRD12_ENST00000400020.3_Silent_p.V299V|ANKRD12_ENST00000383440.2_Silent_p.V299V	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	322						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CTCAATCTGTAAATCCTTCTA	0.338																																							uc002knv.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(964-966)GTA>GTT		ankyrin repeat domain 12 isoform 1							68.0	73.0	71.0					18																	9254231		2202	4300	6502	SO:0001819	synonymous_variant	23253					nucleus		g.chr18:9254231A>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.966A>T	18.37:g.9254231A>T						ANKRD12_uc002knw.2_Silent_p.V299V|ANKRD12_uc002knx.2_Silent_p.V299V|ANKRD12_uc010dkx.1_Silent_p.V29V	p.V322V	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			9	1223	+			322					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	c.966A>T	CCDS11843.1																																																																																				0.338	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		7	41	0	0	0	0.00308	0	7	41				
PIEZO2	63895	broad.mit.edu	37	18	10681740	10681740	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:10681740G>T	ENST00000503781.3	-	47	7357	c.7358C>A	c.(7357-7359)aCa>aAa	p.T2453K	PIEZO2_ENST00000302079.6_Missense_Mutation_p.T2390K|PIEZO2_ENST00000580640.1_Missense_Mutation_p.T2478K|PIEZO2_ENST00000285141.4_Missense_Mutation_p.T245K|PIEZO2_ENST00000581680.1_5'Flank|PIEZO2_ENST00000538948.1_Missense_Mutation_p.T410K	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2453					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										GGCACTCATTGTGAAAATAGG	0.388																																							uc002kor.3		NA																	0				ovary(1)	1						c.(1228-1230)ACA>AAA		family with sequence similarity 38, member B							136.0	130.0	132.0					18																	10681740		2203	4300	6503	SO:0001583	missense	63895					integral to membrane	ion channel activity	g.chr18:10681740G>T	AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.7358C>A	18.37:g.10681740G>T	ENSP00000421377:p.Thr2453Lys					FAM38B_uc002koq.2_Missense_Mutation_p.T245K	p.T410K	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN			9	1369	-			2453					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	ENST00000503781.3	37	c.1229C>A		.	.	.	.	.	.	.	.	.	.	G	19.14	3.769027	0.69992	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T;T	0.74421	-0.84;-0.64;-0.64	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.64114	0.2569	L	0.42008	1.315	0.34615	D	0.717941	P	0.39576	0.679	B	0.35278	0.199	T	0.68078	-0.5504	10	0.05721	T	0.95	.	18.928	0.92553	0.0:0.0:1.0:0.0	.	347	D6RFZ0	.	K	347;2453;410;245	ENSP00000421377:T347K;ENSP00000443129:T410K;ENSP00000285141:T245K	ENSP00000285141:T245K	T	-	2	0	FAM38B	10671740	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.545000	0.90657	2.549000	0.85964	0.561000	0.74099	ACA		0.388	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		13	73	1	0	0.00185496	0.001855	0.00213057	13	73				
DSG4	147409	broad.mit.edu	37	18	28986078	28986078	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:28986078C>A	ENST00000308128.4	+	12	1810	c.1675C>A	c.(1675-1677)Cca>Aca	p.P559T	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.P559T	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	559					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGTTTTATCTCCAGGATTTTA	0.443																																							uc002kwq.2		NA																	0				central_nervous_system(5)|ovary(3)	8						c.(1675-1677)CCA>ACA		desmoglein 4 isoform 2 preproprotein							66.0	67.0	67.0					18																	28986078		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28986078C>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.1675C>A	18.37:g.28986078C>A	ENSP00000311859:p.Pro559Thr					DSG4_uc002kwr.2_Missense_Mutation_p.P559T	p.P559T	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		12	1810	+			559			Extracellular (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.1675C>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	2.329	-0.353830	0.05173	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.60040	0.22;0.22	5.99	-0.141	0.13452	Cadherin-like (1);	1.137230	0.06930	N	0.810999	T	0.49457	0.1558	L	0.55990	1.75	0.09310	N	1	B;B	0.23442	0.085;0.035	B;B	0.21917	0.037;0.027	T	0.34129	-0.9841	10	0.23302	T	0.38	.	7.9155	0.29816	0.0:0.2609:0.5216:0.2175	.	559;559	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	T	559	ENSP00000311859:P559T;ENSP00000352785:P559T	ENSP00000311859:P559T	P	+	1	0	DSG4	27240076	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.576000	0.05854	-0.102000	0.12197	0.655000	0.94253	CCA		0.443	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		5	25	1	0	0.000602214	0.000602	0.000707037	5	25				
ASXL3	80816	broad.mit.edu	37	18	31319095	31319095	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:31319095C>A	ENST00000269197.5	+	11	1727	c.1727C>A	c.(1726-1728)tCa>tAa	p.S576*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAAACAGGGTCATCTTCTCTA	0.423																																							uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1726-1728)TCA>TAA		additional sex combs like 3							58.0	56.0	57.0					18																	31319095		1873	4119	5992	SO:0001587	stop_gained	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31319095C>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.1727C>A	18.37:g.31319095C>A	ENSP00000269197:p.Ser576*					ASXL3_uc002kxq.2_Nonsense_Mutation_p.S283*	p.S576*	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			11	1782	+			576					Q6ZMX6|Q96MU3|Q9UFC5	Nonsense_Mutation	SNP	ENST00000269197.5	37	c.1727C>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922798	0.73213	.	.	ENSG00000141431	ENST00000269197	.	.	.	5.25	5.25	0.73442	.	3.183570	0.00725	N	0.000910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	13.0161	0.58757	0.1615:0.8385:0.0:0.0	.	.	.	.	X	576	.	ENSP00000269197:S576X	S	+	2	0	ASXL3	29573093	0.002000	0.14202	0.040000	0.18447	0.598000	0.36846	1.670000	0.37502	2.616000	0.88540	0.467000	0.42956	TCA		0.423	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			6	13	1	0	3.59834e-05	0.001168	4.69764e-05	6	13				
ASXL3	80816	broad.mit.edu	37	18	31324912	31324912	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:31324912T>A	ENST00000269197.5	+	12	5100	c.5100T>A	c.(5098-5100)tcT>tcA	p.S1700S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1700					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGGGAGCCTCTAGTGTACAAC	0.527																																							uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(5098-5100)TCT>TCA		additional sex combs like 3							81.0	85.0	84.0					18																	31324912		2050	4216	6266	SO:0001819	synonymous_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31324912T>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.5100T>A	18.37:g.31324912T>A						ASXL3_uc002kxq.2_Silent_p.S1407S	p.S1700S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	5155	+			1700					Q6ZMX6|Q96MU3|Q9UFC5	Silent	SNP	ENST00000269197.5	37	c.5100T>A	CCDS45847.1																																																																																				0.527	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			6	52	0	0	0	0.001984	0	6	52				
DCC	1630	broad.mit.edu	37	18	50451740	50451740	+	Splice_Site	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:50451740G>T	ENST00000442544.2	+	5	1601	c.985G>T	c.(985-987)Gtt>Ttt	p.V329F	DCC_ENST00000412726.1_Splice_Site_p.V177F	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	329					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)			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)		CACAGTCTTGGGTAAGTTAGT	0.373																																							uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(985-987)GTT>TTT		netrin receptor DCC precursor							119.0	121.0	120.0					18																	50451740		2203	4300	6503	SO:0001630	splice_region_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50451740G>T	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.985+1G>T	18.37:g.50451740G>T						DCC_uc010xdr.1_Missense_Mutation_p.V177F	p.V329F	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	5	1572	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	329			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000442544.2	37	c.985G>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893203	0.52121	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.78364	-1.17;-1.17	5.93	5.93	0.95920	.	0.079729	0.48767	D	0.000179	D	0.89532	0.6742	M	0.85630	2.765	0.80722	D	1	D;D	0.65815	0.995;0.993	D;D	0.69824	0.92;0.966	D	0.89864	0.4018	10	0.62326	D	0.03	.	19.121	0.93364	0.0:0.0:1.0:0.0	.	177;329	E7EQM8;P43146	.;DCC_HUMAN	F	329;262;177	ENSP00000389140:V329F;ENSP00000397322:V177F	ENSP00000304146:V262F	V	+	1	0	DCC	48705738	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.302000	0.78861	2.814000	0.96858	0.591000	0.81541	GTT		0.373	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	Missense_Mutation	11	56	1	0	2.27111e-07	0.013537	3.35306e-07	11	56				
RTTN	25914	broad.mit.edu	37	18	67794893	67794893	+	Silent	SNP	G	G	A	rs184081126	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:67794893G>A	ENST00000255674.6	-	25	3514	c.3228C>T	c.(3226-3228)ctC>ctT	p.L1076L	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Silent_p.L1076L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1076					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAATGGAATGGAGGCAGTCCT	0.438													G|||	2	0.000399361	0.0	0.0	5008	,	,		16477	0.002		0.0	False		,,,				2504	0.0						uc002lkp.2		NA																	0				ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8						c.(3226-3228)CTC>CTT		rotatin							58.0	58.0	58.0					18																	67794893		1930	4131	6061	SO:0001819	synonymous_variant	25914						binding	g.chr18:67794893G>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.3228C>T	18.37:g.67794893G>A						RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Silent_p.L164L	p.L1076L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN			25	3296	-		Esophageal squamous(42;0.129)	1076					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	ENST00000255674.6	37	c.3228C>T	CCDS42443.1																																																																																				0.438	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		6	26	0	0	0	0.001984	0	6	26				
NETO1	81832	broad.mit.edu	37	18	70461640	70461640	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:70461640C>A	ENST00000327305.6	-	5	1127		c.e5-1		NETO1_ENST00000299430.2_Splice_Site|NETO1_ENST00000583169.1_Splice_Site	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1						memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AAGTCAGGATCTTAAAAATTG	0.294																																							uc002lkw.2		NA																	0				ovary(2)|skin(2)	4						c.e5-1		neuropilin- and tolloid-like protein 1 isoform 3							71.0	78.0	76.0					18																	70461640		2203	4299	6502	SO:0001630	splice_region_variant	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70461640C>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.470-1G>T	18.37:g.70461640C>A						NETO1_uc002lkx.1_Splice_Site_p.D156_splice|NETO1_uc002lky.1_Splice_Site_p.D157_splice	p.D157_splice	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	5	754	-		Esophageal squamous(42;0.129)						Q86W85|Q8ND78|Q8TDF4	Splice_Site	SNP	ENST00000327305.6	37	c.470_splice	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384850	0.82792	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6103	0.95602	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NETO1	68612620	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.998000	0.76277	2.629000	0.89072	0.655000	0.94253	.		0.294	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999	Intron	12	53	1	0	5.50884e-06	0.013537	7.58016e-06	12	53				
TSHZ1	10194	broad.mit.edu	37	18	73000452	73000452	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr18:73000452G>A	ENST00000580243.1	+	2	3438	c.3090G>A	c.(3088-3090)gaG>gaA	p.E1030E	TSHZ1_ENST00000322038.5_Silent_p.E985E			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	1030					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GGGCCACCGAGGAAGACTTGG	0.517																																							uc002lly.2		NA																	0					0						c.(2953-2955)GAG>GAA		teashirt family zinc finger 1							65.0	70.0	68.0					18																	73000452		2203	4300	6503	SO:0001819	synonymous_variant	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:73000452G>A	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.3090G>A	18.37:g.73000452G>A							p.E985E	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	3518	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	1030					O60534|Q4LE29|Q53EU4	Silent	SNP	ENST00000580243.1	37	c.2955G>A																																																																																					0.517	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		11	48	0	0	0	0.010729	0	11	48				
POLRMT	5442	broad.mit.edu	37	19	619717	619717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:619717G>A	ENST00000588649.2	-	13	3019	c.2935C>T	c.(2935-2937)Cag>Tag	p.Q979*	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	979	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGCACCTGTGCCACCCGC	0.687																																							uc002lpf.1		NA																	0				ovary(1)|pancreas(1)	2						c.(2935-2937)CAG>TAG		mitochondrial DNA-directed RNA polymerase							89.0	92.0	91.0					19																	619717		2203	4300	6503	SO:0001587	stop_gained	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:619717G>A		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2935C>T	19.37:g.619717G>A	ENSP00000465759:p.Gln979*						p.Q979*	NM_005035	NP_005026	O00411	RPOM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	2991	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	979			Mediates interaction with TEFM.		O60370	Nonsense_Mutation	SNP	ENST00000588649.2	37	c.2935C>T	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	37	6.258177	0.97417	.	.	ENSG00000099821	ENST00000215591	.	.	.	4.57	2.21	0.28008	.	0.061996	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-35.6299	9.6844	0.40089	0.0:0.1535:0.6875:0.159	.	.	.	.	X	979	.	ENSP00000215591:Q979X	Q	-	1	0	POLRMT	570717	1.000000	0.71417	0.953000	0.39169	0.006000	0.05464	5.025000	0.64097	0.881000	0.35993	0.448000	0.29417	CAG		0.687	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		11	97	0	0	0	0.008291	0	11	97				
ADAMTSL5	339366	broad.mit.edu	37	19	1507362	1507362	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:1507362C>A	ENST00000413997.2	-	9	760	c.761G>T	c.(760-762)tGg>tTg	p.W254L	ADAMTSL5_ENST00000330475.4_Missense_Mutation_p.W244L|ADAMTSL5_ENST00000395467.2_Missense_Mutation_p.W13L|ADAMTSL5_ENST00000590562.1_5'UTR|CTB-25B13.9_ENST00000590252.1_RNA			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	254						extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGACCACCCAGTGCCCATT	0.657																																							uc002ltd.2		NA																	0					0						c.(730-732)TGG>TTG		ADAMTS-like 5 precursor							73.0	70.0	71.0					19																	1507362		2203	4300	6503	SO:0001583	missense	339366					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:1507362C>A	BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain containing 6"""	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.761G>T	19.37:g.1507362C>A	ENSP00000399364:p.Trp254Leu					ADAMTSL5_uc010dsl.2_Missense_Mutation_p.W13L|ADAMTSL5_uc010xgq.1_Missense_Mutation_p.W254L	p.W244L	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1175	-		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)	244					B4DXK7|Q8IW95	Missense_Mutation	SNP	ENST00000413997.2	37	c.731G>T		.	.	.	.	.	.	.	.	.	.	C	17.41	3.381868	0.61845	.	.	ENSG00000185761	ENST00000413997;ENST00000330475;ENST00000395467	T;T;T	0.49432	0.78;0.78;0.78	4.67	4.67	0.58626	ADAM-TS Spacer 1 (1);	0.219310	0.42682	N	0.000670	T	0.45716	0.1356	L	0.55743	1.74	0.37250	D	0.906494	B;B	0.21688	0.059;0.032	B;B	0.24541	0.054;0.037	T	0.51926	-0.8643	10	0.46703	T	0.11	.	15.0289	0.71691	0.0:1.0:0.0:0.0	.	254;244	B4DXK7;Q6ZMM2	.;ATL5_HUMAN	L	254;244;13	ENSP00000399364:W254L;ENSP00000327608:W244L;ENSP00000378850:W13L	ENSP00000327608:W244L	W	-	2	0	ADAMTSL5	1458362	1.000000	0.71417	0.669000	0.29828	0.012000	0.07955	3.394000	0.52551	2.146000	0.66826	0.561000	0.74099	TGG		0.657	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding		XM_294919		10	28	1	0	2.17888e-05	0.006214	2.89955e-05	10	28				
TMPRSS9	360200	broad.mit.edu	37	19	2389903	2389903	+	Silent	SNP	C	C	G	rs555482386		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:2389903C>G	ENST00000332578.3	+	1	120	c.120C>G	c.(118-120)gtC>gtG	p.V40V		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	40					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTTGTCGTCCTCACCCTGG	0.592																																							uc010xgx.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(118-120)GTC>GTG		transmembrane protease, serine 9							117.0	90.0	99.0					19																	2389903		2203	4300	6503	SO:0001819	synonymous_variant	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2389903C>G	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.120C>G	19.37:g.2389903C>G						TMPRSS9_uc002lvv.1_Silent_p.V40V	p.V40V	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	120	+			40			Helical; Signal-anchor for type II membrane protein; (Potential).		Q6ZND6|Q7Z411	Silent	SNP	ENST00000332578.3	37	c.120C>G	CCDS12088.1																																																																																				0.592	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		4	37	0	0	0	0.000602	0	4	37				
FUT3	2525	broad.mit.edu	37	19	5844780	5844780	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:5844780A>G	ENST00000303225.6	-	3	705	c.71T>C	c.(70-72)cTg>cCg	p.L24P	FUT3_ENST00000458379.2_Missense_Mutation_p.L24P|FUT3_ENST00000589918.1_Missense_Mutation_p.L24P|FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589620.1_Missense_Mutation_p.L24P|AC024592.9_ENST00000589276.1_RNA	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	24					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						AGCCACCAGCAGCTGAAATAG	0.607																																					Esophageal Squamous(82;745 1728 24593 44831)	Esophageal Squamous(82;745 1728 24593 44831)	uc002mdk.2		NA																	0					0						c.(70-72)CTG>CCG		fucosyltransferase 3							28.0	26.0	27.0					19																	5844780		2203	4300	6503	SO:0001583	missense	2525				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	g.chr19:5844780A>G		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.71T>C	19.37:g.5844780A>G	ENSP00000305603:p.Leu24Pro					FUT3_uc002mdm.2_Missense_Mutation_p.L24P|FUT3_uc002mdj.2_Missense_Mutation_p.L24P|FUT3_uc002mdl.2_Missense_Mutation_p.L24P|uc002mdn.2_5'Flank	p.L24P	NM_001097641	NP_001091110	P21217	FUT3_HUMAN			2	168	-			24			Helical; Signal-anchor for type II membrane protein; (Potential).		B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	ENST00000303225.6	37	c.71T>C	CCDS12153.1	.	.	.	.	.	.	.	.	.	.	A	13.12	2.141531	0.37825	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.25250	1.81;1.81	2.33	1.25	0.21368	.	1.073890	0.07327	N	0.878578	T	0.47248	0.1435	M	0.77616	2.38	0.09310	N	0.99999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.17992	-1.0351	10	0.38643	T	0.18	.	4.546	0.12081	0.8151:0.0:0.1849:0.0	.	24;24;24;24	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	P	24	ENSP00000305603:L24P;ENSP00000416443:L24P	ENSP00000305603:L24P	L	-	2	0	FUT3	5795780	0.049000	0.20398	0.063000	0.19743	0.168000	0.22595	2.162000	0.42367	0.109000	0.17891	0.172000	0.16884	CTG		0.607	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149		4	17	0	0	0	0.009096	0	4	17				
RANBP3	8498	broad.mit.edu	37	19	5915067	5915067	+	IGR	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:5915067C>G	ENST00000340578.6	-	0	3233				CAPS_ENST00000222125.5_Silent_p.A126A|AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000588776.1_Silent_p.A212A|CAPS_ENST00000452990.2_Silent_p.A126A	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						GTGGCCGTGCCCACCCCAAGG	0.677																																							uc002mdt.2		NA																	0					0						c.(376-378)GCC>GCG		calcyphosine isoform a							86.0	80.0	82.0					19																	5915067		2203	4298	6501	SO:0001628	intergenic_variant	828				intracellular signal transduction	cytoplasm	calcium ion binding	g.chr19:5915067C>G	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4			19.37:g.5915067C>G						CAPS_uc002mdu.2_Silent_p.A126A	p.A126A	NM_004058	NP_004049	Q13938	CAYP1_HUMAN			4	528	+			126			EF-hand 3.		B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Silent	SNP	ENST00000340578.6	37	c.378C>G	CCDS42478.1																																																																																				0.677	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		10	73	0	0	0	0.010729	0	10	73				
TUBB4A	10382	broad.mit.edu	37	19	6495189	6495189	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:6495189C>T	ENST00000264071.2	-	4	1692	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.E441K|CTD-2396E7.9_ENST00000599292.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	441					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										GCCACCTCCTCCTCCGCCTCC	0.632																																							uc002mfg.1		NA																	0				ovary(2)	2						c.(1321-1323)GAG>AAG		tubulin, beta 4							66.0	60.0	62.0					19																	6495189		2203	4300	6503	SO:0001583	missense	10382				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr19:6495189C>T	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.1321G>A	19.37:g.6495189C>T	ENSP00000264071:p.Glu441Lys					TUBB4_uc002mff.1_Missense_Mutation_p.E369K|MIR220B_hsa-mir-220b|MI0005529_5'Flank	p.E441K	NM_006087	NP_006078	P04350	TBB4_HUMAN		Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155)	4	1428	-		Hepatocellular(1079;0.00213)|Renal(1328;0.0183)	441					B3KQP4|Q969E5	Missense_Mutation	SNP	ENST00000264071.2	37	c.1321G>A	CCDS12168.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321115	0.41096	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	T;T	0.71461	-0.57;-0.57	3.13	3.13	0.36017	.	0.305838	0.26359	U	0.024825	T	0.72399	0.3455	M	0.73598	2.24	0.45690	D	0.998608	P	0.34587	0.458	B	0.39152	0.292	T	0.77691	-0.2493	10	0.87932	D	0	.	13.3769	0.60743	0.0:1.0:0.0:0.0	.	441	P04350	TBB4A_HUMAN	K	441;441;359	ENSP00000264071:E441K;ENSP00000443590:E441K	ENSP00000264071:E441K	E	-	1	0	TUBB4	6446189	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.843000	0.69424	1.473000	0.48159	0.306000	0.20318	GAG		0.632	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457841.1	NM_006087		10	46	0	0	0	0.006214	0	10	46				
ADAMTS10	81794	broad.mit.edu	37	19	8651527	8651528	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:8651527_8651528CC>AG	ENST00000597188.1	-	20	2587_2588	c.2317_2318GG>CT	c.(2317-2319)GGg>CTg	p.G773L	ADAMTS10_ENST00000595838.1_Missense_Mutation_p.G260L|ADAMTS10_ENST00000270328.4_Missense_Mutation_p.G773L	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	773	Spacer.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AAAGGTGGTCCCAGCTAGAGGC	0.634											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002mkj.1		NA																	0				pancreas(2)|skin(2)	4						c.(2317-2319)GGG>CTG		ADAM metallopeptidase with thrombospondin type 1																																				SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8651527_8651528CC>AG	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2317_2318delinsAG	19.37:g.8651527_8651528delinsAG	ENSP00000471851:p.Gly773Leu		OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	81	ADAMTS10_uc002mki.1_Missense_Mutation_p.G260L|ADAMTS10_uc002mkk.1_Missense_Mutation_p.G405L	p.G773L	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			20	2591_2592	-			773			Spacer.		M0QZE4	Missense_Mutation	DNP	ENST00000597188.1	37	c.2317_2318GG>CT	CCDS12206.1																																																																																				0.634	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		12	66	0	0	0	0.004672	0	12	66				
MUC16	94025	broad.mit.edu	37	19	9061767	9061767	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:9061767G>C	ENST00000397910.4	-	3	25882	c.25679C>G	c.(25678-25680)tCt>tGt	p.S8560C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8562	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)				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						GGAAGAGACAGAGCTGGCTTC	0.502																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(25678-25680)TCT>TGT		mucin 16							67.0	69.0	69.0					19																	9061767		2032	4172	6204	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061767G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.25679C>G	19.37:g.9061767G>C	ENSP00000381008:p.Ser8560Cys						p.S8560C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	25883	-			8562			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.25679C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.824	-0.037202	0.07497	.	.	ENSG00000181143	ENST00000397910	T	0.30714	1.52	2.55	-1.0	0.10196	.	.	.	.	.	T	0.36082	0.0954	L	0.32530	0.975	.	.	.	D	0.65815	0.995	D	0.69824	0.966	T	0.44390	-0.9331	8	0.87932	D	0	.	5.2377	0.15454	0.4555:0.0:0.5445:0.0	.	8560	B5ME49	.	C	8560	ENSP00000381008:S8560C	ENSP00000381008:S8560C	S	-	2	0	MUC16	8922767	0.001000	0.12720	0.000000	0.03702	0.021000	0.10359	0.149000	0.16243	-0.115000	0.11915	0.450000	0.29827	TCT		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	25	0	0	0	0.00308	0	8	25				
MUC16	94025	broad.mit.edu	37	19	9088580	9088580	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:9088580A>G	ENST00000397910.4	-	1	3438	c.3235T>C	c.(3235-3237)Tca>Cca	p.S1079P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1079	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGACATTGAGACACTTTCT	0.453																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(3235-3237)TCA>CCA		mucin 16							88.0	86.0	86.0					19																	9088580		1999	4186	6185	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9088580A>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.3235T>C	19.37:g.9088580A>G	ENSP00000381008:p.Ser1079Pro						p.S1079P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	3439	-			1079			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.3235T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	7.088	0.571541	0.13623	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	1.51	-2.1	0.07210	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.43556	-0.9384	8	0.87932	D	0	.	4.6798	0.12729	0.5207:0.0:0.4793:0.0	.	1079	B5ME49	.	P	1079	ENSP00000381008:S1079P	ENSP00000381008:S1079P	S	-	1	0	MUC16	8949580	0.003000	0.15002	0.000000	0.03702	0.491000	0.33493	0.030000	0.13688	-0.450000	0.07107	0.254000	0.18369	TCA		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	45	0	0	0	0.009096	0	4	45				
CACNA1A	773	broad.mit.edu	37	19	13423523	13423524	+	Missense_Mutation	DNP	CG	CG	AA			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:13423523_13423524CG>AA	ENST00000360228.5	-	12	1626_1627	c.1627_1628CG>TT	c.(1627-1629)CGg>TTg	p.R543L	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R544L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	544					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GAAGTAAGGCCGCGTCCCAAGC	0.441																																							uc010dze.2		NA																	0				large_intestine(2)	2						c.(1630-1632)CGG>TTG		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)																																			SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13423523_13423524CG>AA	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1627_1628delinsAA	19.37:g.13423523_13423524delinsAA	ENSP00000353362:p.Arg543Leu					CACNA1A_uc010dzc.2_Missense_Mutation_p.R69L|CACNA1A_uc002mwy.3_Missense_Mutation_p.R543L|CACNA1A_uc010xne.1_Missense_Mutation_p.R69L	p.R544L	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		12	1866_1867	-			544			Cytoplasmic (Potential).|II.		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	DNP	ENST00000360228.5	37	c.1630_1631CG>TT	CCDS45998.1																																																																																				0.441	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		15	41	0	0	0	0.004672	0	15	41				
B3GNT3	10331	broad.mit.edu	37	19	17922725	17922725	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:17922725G>T	ENST00000318683.6	+	3	1060	c.913G>T	c.(913-915)Gag>Tag	p.E305*	B3GNT3_ENST00000595387.1_Nonsense_Mutation_p.E305*	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	305					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)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)	p.E305Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TATGTGTCTGGAGCTTGAGGG	0.622																																							uc002nhk.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(913-915)GAG>TAG		UDP-GlcNAc:betaGal							138.0	122.0	128.0					19																	17922725		2203	4300	6503	SO:0001587	stop_gained	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17922725G>T	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.913G>T	19.37:g.17922725G>T	ENSP00000321874:p.Glu305*					B3GNT3_uc002nhl.1_Nonsense_Mutation_p.E305*|B3GNT3_uc010ebd.1_Nonsense_Mutation_p.E305*|B3GNT3_uc010ebe.1_Nonsense_Mutation_p.E305*	p.E305*	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN			3	998	+			305			Lumenal (Potential).		B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Nonsense_Mutation	SNP	ENST00000318683.6	37	c.913G>T	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.567512	0.45694	.	.	ENSG00000179913	ENST00000318683	.	.	.	5.23	-4.26	0.03755	.	0.656003	0.14337	N	0.325981	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	6.8567	0.24044	0.2821:0.4601:0.2577:0.0	.	.	.	.	X	305	.	ENSP00000321874:E305X	E	+	1	0	B3GNT3	17783725	0.236000	0.23804	0.022000	0.16811	0.003000	0.03518	0.308000	0.19314	-0.468000	0.06922	-0.258000	0.10820	GAG		0.622	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256		32	86	1	0	1.02151e-06	0.013726	1.45507e-06	32	86				
PDE4C	5143	broad.mit.edu	37	19	18332994	18332994	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:18332994A>G	ENST00000355502.3	-	6	1253	c.382T>C	c.(382-384)Tat>Cat	p.Y128H	PDE4C_ENST00000594617.3_Missense_Mutation_p.Y128H|PDE4C_ENST00000539010.1_5'Flank|PDE4C_ENST00000447275.3_Missense_Mutation_p.Y22H|PDE4C_ENST00000598111.2_5'Flank|PDE4C_ENST00000262805.12_Missense_Mutation_p.Y96H|PDE4C_ENST00000597297.1_5'Flank|PDE4C_ENST00000594465.3_Missense_Mutation_p.Y128H|AC068499.10_ENST00000594805.3_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	128					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)|extracellular space (GO:0005615)|primary cilium (GO:0072372)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GAGAGTTCATAGTCGCTATCT	0.642																																							uc010xqc.1		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(382-384)TAT>CAT		phosphodiesterase 4C isoform PDE4C-2	Dyphylline(DB00651)						69.0	61.0	63.0					19																	18332994		2203	4300	6503	SO:0001583	missense	5143				signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr19:18332994A>G		CCDS12373.1, CCDS42523.1, CCDS46016.1	19p13.11	2010-06-24	2010-06-24			ENSG00000105650	3.1.4.17	"""Phosphodiesterases"""	8782	protein-coding gene	gene with protein product	"""phosphodiesterase E1 dunce homolog (Drosophila)"""	600128	"""phosphodiesterase 4C, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E1)"""	DPDE1			Standard	NM_001098818		Approved		uc002nik.4	Q08493		ENST00000355502.3:c.382T>C	19.37:g.18332994A>G	ENSP00000347689:p.Tyr128His					PDE4C_uc002nik.3_Missense_Mutation_p.Y128H|PDE4C_uc002nil.3_Missense_Mutation_p.Y128H|PDE4C_uc002nif.3_5'Flank|PDE4C_uc002nig.3_5'Flank|PDE4C_uc002nih.3_5'Flank|PDE4C_uc010ebk.2_Missense_Mutation_p.Y22H|PDE4C_uc002nii.3_Missense_Mutation_p.Y96H|PDE4C_uc010ebl.2_5'UTR|PDE4C_uc010xqd.1_5'UTR|PDE4C_uc010ebm.1_5'Flank|PDE4C_uc002nim.1_Missense_Mutation_p.Y128H	p.Y128H	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN			2	862	-			128					B3KTC4|Q9UN44|Q9UN45|Q9UN46|Q9UPJ6	Missense_Mutation	SNP	ENST00000355502.3	37	c.382T>C	CCDS12373.1	.	.	.	.	.	.	.	.	.	.	A	13.53	2.265760	0.40095	.	.	ENSG00000105650	ENST00000536045;ENST00000355502;ENST00000536507;ENST00000262805;ENST00000447275;ENST00000543547	T;T;T	0.73152	0.97;-0.72;-0.66	4.35	3.32	0.38043	.	0.520018	0.20952	N	0.082724	T	0.63390	0.2507	L	0.52905	1.665	0.80722	D	1	B;B;B	0.14805	0.009;0.003;0.011	B;B;B	0.20384	0.019;0.009;0.029	T	0.58205	-0.7677	10	0.51188	T	0.08	.	7.9709	0.30127	0.8965:0.0:0.1035:0.0	.	237;128;96	B7Z2S3;Q08493;Q08493-3	.;PDE4C_HUMAN;.	H	207;128;116;96;22;237	ENSP00000347689:Y128H;ENSP00000262805:Y96H;ENSP00000402091:Y22H	ENSP00000262805:Y96H	Y	-	1	0	PDE4C	18193994	1.000000	0.71417	0.561000	0.28357	0.623000	0.37688	7.075000	0.76798	0.558000	0.29135	0.254000	0.18369	TAT		0.642	PDE4C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466295.1			4	23	0	0	0	0.009096	0	4	23				
NCAN	1463	broad.mit.edu	37	19	19344651	19344651	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:19344651G>C	ENST00000252575.6	+	9	3172	c.3073G>C	c.(3073-3075)Gcc>Ccc	p.A1025P	RNU6-1028P_ENST00000517164.1_RNA|NCAN_ENST00000538881.1_Missense_Mutation_p.A476P	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1025	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GACATGTAATGCCAATGGCAC	0.517																																							uc002nlz.2		NA																	0				ovary(4)	4						c.(3073-3075)GCC>CCC		chondroitin sulfate proteoglycan 3 precursor							177.0	133.0	147.0					19																	19344651		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19344651G>C	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.3073G>C	19.37:g.19344651G>C	ENSP00000252575:p.Ala1025Pro					NCAN_uc010ecc.1_Missense_Mutation_p.A589P	p.A1025P	NM_004386	NP_004377	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		9	3172	+			1025			EGF-like 1.		Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.3073G>C	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	G	6.696	0.497001	0.12762	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.98437	-4.93;-4.93	4.73	2.59	0.31030	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.203166	0.24691	N	0.036385	D	0.92034	0.7476	N	0.02539	-0.55	0.28202	N	0.927315	D;B	0.53312	0.959;0.18	P;B	0.47744	0.556;0.044	D	0.88443	0.3043	10	0.26408	T	0.33	.	4.0126	0.09629	0.1919:0.0:0.6199:0.1882	.	1039;1025	Q4LE67;O14594	.;NCAN_HUMAN	P	1039;1025;476	ENSP00000252575:A1025P;ENSP00000442202:A476P	ENSP00000252575:A1025P	A	+	1	0	NCAN	19205651	0.424000	0.25490	0.646000	0.29493	0.386000	0.30323	0.845000	0.27668	0.700000	0.31782	0.563000	0.77884	GCC		0.517	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		18	40	0	0	0	0.010504	0	18	40				
ZNF536	9745	broad.mit.edu	37	19	30934612	30934612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:30934612C>A	ENST00000355537.3	+	2	290	c.143C>A	c.(142-144)cCc>cAc	p.P48H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	48					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CATGCCTTCCCCGAGCTCCAT	0.667																																							uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(142-144)CCC>CAC		zinc finger protein 536							70.0	71.0	71.0					19																	30934612		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934612C>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.143C>A	19.37:g.30934612C>A	ENSP00000347730:p.Pro48His					ZNF536_uc010edd.1_Missense_Mutation_p.P48H	p.P48H	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	281	+	Esophageal squamous(110;0.0834)		48					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.143C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740240	0.30865	.	.	ENSG00000198597	ENST00000355537	T	0.10192	2.9	5.37	4.32	0.51571	.	0.053546	0.85682	N	0.000000	T	0.22936	0.0554	L	0.32530	0.975	0.48762	D	0.999708	B;D	0.89917	0.034;1.0	B;D	0.91635	0.018;0.999	T	0.01520	-1.1334	10	0.46703	T	0.11	-23.8972	15.6063	0.76676	0.1388:0.8612:0.0:0.0	.	48;48	A7E228;O15090	.;ZN536_HUMAN	H	48	ENSP00000347730:P48H	ENSP00000347730:P48H	P	+	2	0	ZNF536	35626452	1.000000	0.71417	0.943000	0.38184	0.954000	0.61252	5.855000	0.69510	1.375000	0.46248	0.462000	0.41574	CCC		0.667	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		19	65	1	0	5.35267e-07	0.007413	7.83539e-07	19	65				
ZNF536	9745	broad.mit.edu	37	19	31040321	31040321	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:31040321G>T	ENST00000355537.3	+	4	3942	c.3795G>T	c.(3793-3795)ctG>ctT	p.L1265L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1265					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TGAACATGCTGTCGGTCCTCA	0.587																																							uc002nsu.1		NA																	0				ovary(7)|large_intestine(2)|skin(2)	11						c.(3793-3795)CTG>CTT		zinc finger protein 536							32.0	31.0	32.0					19																	31040321		2193	4275	6468	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040321G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3795G>T	19.37:g.31040321G>T						ZNF536_uc010edd.1_Silent_p.L1265L	p.L1265L	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3933	+	Esophageal squamous(110;0.0834)		1265					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3795G>T	CCDS32984.1																																																																																				0.587	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		11	14	1	0	6.40141e-05	0.010729	8.171e-05	11	14				
TSHZ3	57616	broad.mit.edu	37	19	31770507	31770507	+	Silent	SNP	G	G	T	rs375736734		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:31770507G>T	ENST00000240587.4	-	2	519	c.192C>A	c.(190-192)gcC>gcA	p.A64A		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	64					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A64A(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AAAACTCGGCGGCCGGGGAGT	0.592																																							uc002nsy.3		NA																	1	Substitution - coding silent(1)		kidney(1)	ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(190-192)GCC>GCA		zinc finger protein 537							31.0	33.0	32.0					19																	31770507		1956	4130	6086	SO:0001819	synonymous_variant	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31770507G>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.192C>A	19.37:g.31770507G>T							p.A64A	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	257	-	Esophageal squamous(110;0.226)		64					Q9H0G6|Q9P254	Silent	SNP	ENST00000240587.4	37	c.192C>A	CCDS12421.2																																																																																				0.592	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		4	20	1	0	0.00909568	0.009096	0.00988598	4	20				
KIRREL2	84063	broad.mit.edu	37	19	36350480	36350480	+	Missense_Mutation	SNP	G	G	T	rs376544628		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:36350480G>T	ENST00000360202.5	+	5	818	c.620G>T	c.(619-621)cGg>cTg	p.R207L	KIRREL2_ENST00000592409.1_Missense_Mutation_p.R207L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R157L|KIRREL2_ENST00000262625.7_Missense_Mutation_p.R207L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	207	Ig-like C2-type 2.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCCGGGCCCGGAGCCAGGCC	0.627																																							uc002ocb.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(619-621)CGG>CTG		kin of IRRE-like 2 isoform c							61.0	61.0	61.0					19																	36350480		2203	4300	6503	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36350480G>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.620G>T	19.37:g.36350480G>T	ENSP00000353331:p.Arg207Leu					KIRREL2_uc002obz.3_Missense_Mutation_p.R207L|KIRREL2_uc002oca.3_Missense_Mutation_p.R157L|KIRREL2_uc002occ.3_Missense_Mutation_p.R154L|KIRREL2_uc002ocd.3_Missense_Mutation_p.R204L	p.R207L	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		5	832	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		207			Ig-like C2-type 2.|Extracellular (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.620G>T	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	G	9.522	1.108491	0.20714	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202	T;T;T	0.75821	-0.97;-0.97;-0.97	4.72	3.63	0.41609	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.689729	0.11989	N	0.509991	T	0.65647	0.2711	M	0.70595	2.14	0.28681	N	0.905122	B;B;P;P	0.40302	0.378;0.378;0.712;0.712	B;B;B;B	0.32211	0.142;0.142;0.138;0.138	T	0.56589	-0.7954	10	0.14656	T	0.56	-6.6961	8.2245	0.31560	0.1176:0.0:0.8824:0.0	.	207;207;157;207	F1T0I2;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;KIRR2_HUMAN;.;.	L	207;157;207	ENSP00000262625:R207L;ENSP00000345067:R157L;ENSP00000353331:R207L	ENSP00000262625:R207L	R	+	2	0	KIRREL2	41042320	0.029000	0.19370	0.996000	0.52242	0.411000	0.31082	1.053000	0.30442	1.258000	0.44101	-0.389000	0.06534	CGG		0.627	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		11	60	1	0	1.08611e-07	0.010729	1.63869e-07	11	60				
CLIP3	25999	broad.mit.edu	37	19	36508345	36508345	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:36508345C>A	ENST00000360535.4	-	12	1686	c.1459G>T	c.(1459-1461)Gga>Tga	p.G487*	CLIP3_ENST00000593074.1_Nonsense_Mutation_p.G487*|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	487					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCAGTGGATCCGCCAATCCTG	0.567																																							uc010eeq.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1459-1461)GGA>TGA		CAP-GLY domain containing linker protein 3							91.0	79.0	83.0					19																	36508345		2203	4300	6503	SO:0001587	stop_gained	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36508345C>A	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1459G>T	19.37:g.36508345C>A	ENSP00000353732:p.Gly487*					uc002ocy.2_Intron|CLIP3_uc002ocz.1_Nonsense_Mutation_p.G487*	p.G487*	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		11	1741	-	Esophageal squamous(110;0.162)		487					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Nonsense_Mutation	SNP	ENST00000360535.4	37	c.1459G>T	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	C	38	6.998810	0.97990	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-9.353	16.6506	0.85188	0.0:1.0:0.0:0.0	.	.	.	.	X	487;369;463	.	ENSP00000353732:G487X	G	-	1	0	CLIP3	41200185	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	3.483000	0.53194	2.607000	0.88179	0.655000	0.94253	GGA		0.567	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		13	45	1	0	1.05317e-09	0.00245	1.71296e-09	13	45				
ZNF260	339324	broad.mit.edu	37	19	37005059	37005059	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:37005059C>A	ENST00000523638.1	-	3	2203	c.1082G>T	c.(1081-1083)gGt>gTt	p.G361V	ZNF260_ENST00000593142.1_Missense_Mutation_p.G361V|ZNF260_ENST00000592282.1_Missense_Mutation_p.G361V|ZNF260_ENST00000588993.1_Missense_Mutation_p.G361V	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	361					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TTCATTACAACCATAGGGTTT	0.438																																							uc002oee.1		NA																	0					0						c.(1081-1083)GGT>GTT		zinc finger protein 260							116.0	105.0	109.0					19																	37005059		2203	4300	6503	SO:0001583	missense	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37005059C>A	AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.1082G>T	19.37:g.37005059C>A	ENSP00000429803:p.Gly361Val					ZNF260_uc002oed.1_Missense_Mutation_p.G358V|ZNF260_uc010eey.1_Missense_Mutation_p.G358V|ZNF260_uc002oef.1_Missense_Mutation_p.G358V	p.G361V	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN			4	1926	-	Esophageal squamous(110;0.162)		361			C2H2-type 12.		Q0VF43	Missense_Mutation	SNP	ENST00000523638.1	37	c.1082G>T	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523437	0.44866	.	.	ENSG00000254004	ENST00000523638	T	0.16597	2.33	4.27	0.684	0.18003	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05273	0.0140	N	0.00991	-1.07	0.33651	D	0.608483	B	0.25441	0.126	B	0.31946	0.138	T	0.18178	-1.0345	9	0.54805	T	0.06	.	2.7705	0.05333	0.1436:0.5366:0.1408:0.179	.	361	Q3ZCT1	ZN260_HUMAN	V	361	ENSP00000429803:G361V	ENSP00000429803:G361V	G	-	2	0	ZNF260	41696899	0.000000	0.05858	0.958000	0.39756	0.998000	0.95712	-2.399000	0.01050	0.538000	0.28769	0.561000	0.74099	GGT		0.438	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		13	53	1	0	0.000219431	0.00245	0.000269587	13	53				
ZNF585A	199704	broad.mit.edu	37	19	37644496	37644496	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:37644496C>A	ENST00000356958.4	-	5	563	c.305G>T	c.(304-306)tGg>tTg	p.W102L	ZNF585A_ENST00000292841.5_Missense_Mutation_p.W47L|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Missense_Mutation_p.W47L|ZNF585A_ENST00000392157.2_Missense_Mutation_p.W47L			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTATGGTCCCATAATTTCTC	0.313																																							uc002ofo.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(304-306)TGG>TTG		zinc finger protein 585A							109.0	114.0	112.0					19																	37644496		2202	4298	6500	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37644496C>A	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.305G>T	19.37:g.37644496C>A	ENSP00000349440:p.Trp102Leu					ZNF585A_uc002ofm.1_Missense_Mutation_p.W47L|ZNF585A_uc002ofn.1_Missense_Mutation_p.W47L	p.W102L	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	536	-			102					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.305G>T		.	.	.	.	.	.	.	.	.	.	C	12.79	2.042430	0.35989	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.26810	3.32;3.31;3.31;1.71	3.76	-3.1	0.05315	.	1.823850	0.03353	U	0.196420	T	0.12689	0.0308	N	0.11756	0.17	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.28744	-1.0034	10	0.62326	D	0.03	.	0.955	0.01384	0.1463:0.2097:0.2877:0.3563	.	102	Q6P3V2	Z585A_HUMAN	L	102;47;47;47	ENSP00000349440:W102L;ENSP00000292841:W47L;ENSP00000375998:W47L;ENSP00000347724:W47L	ENSP00000292841:W47L	W	-	2	0	ZNF585A	42336336	0.000000	0.05858	0.011000	0.14972	0.056000	0.15407	-1.653000	0.01986	-0.202000	0.10268	-0.857000	0.03018	TGG		0.313	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		12	73	1	0	3.07112e-06	0.010729	4.26854e-06	12	73				
RYR1	6261	broad.mit.edu	37	19	38984999	38984999	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:38984999G>A	ENST00000359596.3	+	39	6282	c.6282G>A	c.(6280-6282)ctG>ctA	p.L2094L	RYR1_ENST00000360985.3_Silent_p.L2094L|RYR1_ENST00000355481.4_Silent_p.L2094L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2094	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAGGGTCCCTGCAGGAGCTGG	0.647																																							uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(6280-6282)CTG>CTA		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						38.0	34.0	36.0					19																	38984999		2193	4273	6466	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38984999G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.6282G>A	19.37:g.38984999G>A						RYR1_uc002oiu.2_Silent_p.L2094L|RYR1_uc002oiv.1_5'Flank	p.L2094L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		39	6412	+	all_cancers(60;7.91e-06)		2094			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.6282G>A	CCDS33011.1																																																																																				0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			9	30	0	0	0	0.006214	0	9	30				
CD177	57126	broad.mit.edu	37	19	43858498	43858498	+	RNA	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:43858498C>T	ENST00000607517.1	+	0	389				CD177_ENST00000378012.2_RNA|CD177_ENST00000378009.4_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				ACTTCTGCAACAACCTCGTTA	0.672																																							uc002owi.2		NA																	0				central_nervous_system(1)	1						c.(331-333)AAC>AAT		CD177 molecule precursor							64.0	71.0	69.0					19																	43858498		1958	4124	6082			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43858498C>T	AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"""CD molecules"""	30072	protein-coding gene	gene with protein product	"""polycythemia rubra vera 1"""	162860	"""CD177 antigen"""			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43858498C>T						CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	p.N111N	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN			3	375	+		Prostate(69;0.00682)	111					Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	Silent	SNP	ENST00000607517.1	37	c.333C>T																																																																																					0.672	CD177-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000470162.1	NM_020406		4	49	0	0	0	0.009096	0	4	49				
CBLC	23624	broad.mit.edu	37	19	45295768	45295768	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:45295768G>T	ENST00000270279.3	+	7	1197	c.1134G>T	c.(1132-1134)tgG>tgT	p.W378C	CBLC_ENST00000341505.4_Missense_Mutation_p.W332C	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	378	Interaction with RET.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				TGGCTGCCTGGCAGGTGGGTC	0.577			M		AML																																		uc002ozs.2		NA		Rec	yes		19	19q13.2	23624	M	Cas-Br-M (murine) ecotropic retroviral transforming sequence c			L			AML		0				ovary(4)|lung(1)|skin(1)	6						c.(1132-1134)TGG>TGT		Cas-Br-M (murine) ecotropic retroviral							61.0	58.0	59.0					19																	45295768		2203	4300	6503	SO:0001583	missense	23624				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr19:45295768G>T	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.1134G>T	19.37:g.45295768G>T	ENSP00000270279:p.Trp378Cys					CBLC_uc010ejt.2_Missense_Mutation_p.W332C	p.W378C	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN			7	1197	+	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)	378			RING-type.		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	ENST00000270279.3	37	c.1134G>T	CCDS12643.1	.	.	.	.	.	.	.	.	.	.	.	18.47	3.630626	0.67015	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.97186	-4.28;-4.28	4.28	4.28	0.50868	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.40302	N	0.001134	D	0.98137	0.9385	M	0.76938	2.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98415	1.0574	10	0.59425	D	0.04	-19.7528	14.622	0.68594	0.0:0.0:1.0:0.0	.	332;378	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	C	378;332	ENSP00000270279:W378C;ENSP00000340250:W332C	ENSP00000270279:W378C	W	+	3	0	CBLC	49987608	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.789000	0.91839	2.404000	0.81709	0.643000	0.83706	TGG		0.577	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		4	42	1	0	0.00909568	0.009096	0.00988598	4	42				
SIGLEC9	27180	broad.mit.edu	37	19	51628303	51628303	+	Silent	SNP	G	G	A	rs373690399		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:51628303G>A	ENST00000250360.3	+	1	139	c.72G>A	c.(70-72)acG>acA	p.T24T	SIGLEC9_ENST00000440804.3_Silent_p.T24T	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	24	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AACTGCTGACGATGCAGAGTT	0.617																																							uc002pvu.2		NA																	0				skin(1)	1						c.(70-72)ACG>ACA		sialic acid binding Ig-like lectin 9 precursor		G	,	2,4404		0,2,2201	157.0	105.0	123.0		72,72	-3.7	0.0	19		123	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SIGLEC9	NM_001198558.1,NM_014441.2	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	24/480,24/464	51628303	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628303G>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.72G>A	19.37:g.51628303G>A						SIGLEC9_uc010yct.1_Silent_p.T24T	p.T24T	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	1	139	+		all_neural(266;0.0529)	24			Extracellular (Potential).|Ig-like V-type.		Q6GTU4|Q9BYI9	Silent	SNP	ENST00000250360.3	37	c.72G>A	CCDS12825.1																																																																																				0.617	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		8	27	0	0	0	0.00308	0	8	27				
SIGLEC9	27180	broad.mit.edu	37	19	51629378	51629378	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:51629378C>A	ENST00000250360.3	+	3	808	c.741C>A	c.(739-741)gaC>gaA	p.D247E	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.D247E	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	247	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TCCAAGGAGACGGCACAGGTA	0.597																																							uc002pvu.2		NA																	0				skin(1)	1						c.(739-741)GAC>GAA		sialic acid binding Ig-like lectin 9 precursor							103.0	91.0	95.0					19																	51629378		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51629378C>A	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.741C>A	19.37:g.51629378C>A	ENSP00000250360:p.Asp247Glu					SIGLEC9_uc010yct.1_Missense_Mutation_p.D247E	p.D247E	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	3	808	+		all_neural(266;0.0529)	247			Extracellular (Potential).|Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.741C>A	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	6.452	0.451599	0.12223	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.12672	2.66;2.88	3.02	-5.76	0.02376	Immunoglobulin-like (1);	1.993360	0.02814	N	0.124703	T	0.08802	0.0218	N	0.11892	0.195	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.27226	-1.0080	10	0.36615	T	0.2	.	12.5164	0.56034	0.0:0.7609:0.0:0.2391	.	247	Q9Y336	SIGL9_HUMAN	E	247	ENSP00000413861:D247E;ENSP00000250360:D247E	ENSP00000250360:D247E	D	+	3	2	SIGLEC9	56321190	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.761000	0.00189	-1.656000	0.01495	-1.303000	0.01326	GAC		0.597	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		9	36	1	0	1.33987e-11	0.008291	2.34563e-11	9	36				
SIGLEC6	946	broad.mit.edu	37	19	52034735	52034735	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:52034735G>T	ENST00000425629.3	-	2	260	c.106C>A	c.(106-108)Cca>Aca	p.P36T	SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P36T|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.P36T|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P36T|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P36T	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	36	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGTGACTCTGGCCCCTCCAGC	0.632																																							uc002pwy.2		NA																	0				ovary(1)	1						c.(106-108)CCA>ACA		sialic acid binding Ig-like lectin 6 isoform 1							48.0	53.0	51.0					19																	52034735		2177	4288	6465	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034735G>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.106C>A	19.37:g.52034735G>T	ENSP00000401502:p.Pro36Thr					SIGLEC6_uc002pwz.2_Missense_Mutation_p.P36T|SIGLEC6_uc002pxa.2_Missense_Mutation_p.P36T|SIGLEC6_uc010ydb.1_Intron|SIGLEC6_uc010ydc.1_Missense_Mutation_p.P25T|SIGLEC6_uc010eoz.1_Missense_Mutation_p.P25T|SIGLEC6_uc010epb.1_Intron|SIGLEC6_uc010epa.1_Missense_Mutation_p.P25T	p.P36T	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	2	268	-		all_neural(266;0.0199)	36			Extracellular (Potential).|Ig-like V-type.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.106C>A	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	G	6.479	0.456612	0.12283	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000343300;ENST00000426829	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	2.82	1.73	0.24493	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	2.770490	0.02124	U	0.055894	T	0.61553	0.2356	L	0.31845	0.965	0.09310	N	1	P;B;B;P;P;B	0.36633	0.562;0.11;0.364;0.544;0.544;0.033	B;B;B;B;B;B	0.40901	0.316;0.196;0.236;0.236;0.343;0.11	T	0.52631	-0.8550	10	0.52906	T	0.07	.	7.1622	0.25671	0.0:0.0:0.7348:0.2652	.	36;36;36;36;36;36	F8WA78;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	T	25;36;36;36;36;36	ENSP00000375674:P36T;ENSP00000401502:P36T;ENSP00000353071:P36T;ENSP00000345907:P36T	ENSP00000345907:P36T	P	-	1	0	SIGLEC6	56726547	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.668000	0.25127	0.494000	0.27859	0.306000	0.20318	CCA		0.632	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		8	41	1	0	0.000274275	0.004482	0.000331637	8	41				
VN1R4	317703	broad.mit.edu	37	19	53770558	53770558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:53770558C>A	ENST00000311170.4	-	1	414	c.361G>T	c.(361-363)Gag>Tag	p.E121*	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	121					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GGGGCTTTCTCTTTAAGTTTT	0.502										HNSCC(26;0.072)																													uc010ydu.1		NA																	0				ovary(2)	2						c.(361-363)GAG>TAG		vomeronasal 1 receptor 4							58.0	43.0	48.0					19																	53770558		2203	4300	6503	SO:0001587	stop_gained	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770558C>A	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.361G>T	19.37:g.53770558C>A	ENSP00000310856:p.Glu121*	HNSCC(26;0.072)					p.E121*	NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	361	-			121			Cytoplasmic (Potential).		Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Nonsense_Mutation	SNP	ENST00000311170.4	37	c.361G>T	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.999130	0.35226	.	.	ENSG00000228567	ENST00000311170	.	.	.	2.28	-2.34	0.06704	.	2.162110	0.03789	U	0.262595	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.2602	0.04065	0.1743:0.2537:0.4405:0.1316	.	.	.	.	X	121	.	ENSP00000310856:E121X	E	-	1	0	VN1R4	58462370	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.569000	0.02142	-0.321000	0.08627	0.545000	0.68477	GAG		0.502	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		6	29	1	0	5.9392e-07	0.001168	8.56639e-07	6	29				
VN1R4	317703	broad.mit.edu	37	19	53770573	53770573	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:53770573A>T	ENST00000311170.4	-	1	399	c.346T>A	c.(346-348)Tgg>Agg	p.W116R	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	116					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		AGTTTTGCCCACCTGGATTTC	0.493										HNSCC(26;0.072)																													uc010ydu.1		NA																	0				ovary(2)	2						c.(346-348)TGG>AGG		vomeronasal 1 receptor 4							61.0	46.0	51.0					19																	53770573		2203	4300	6503	SO:0001583	missense	317703				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53770573A>T	AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.346T>A	19.37:g.53770573A>T	ENSP00000310856:p.Trp116Arg	HNSCC(26;0.072)					p.W116R	NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN		GBM - Glioblastoma multiforme(134;0.00294)	1	346	-			116			Cytoplasmic (Potential).		Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	c.346T>A	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	A	7.548	0.662130	0.14645	.	.	ENSG00000228567	ENST00000311170	T	0.09073	3.02	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33092	N	0.005299	T	0.17789	0.0427	M	0.89353	3.025	0.09310	N	1	P	0.43607	0.812	P	0.45377	0.478	T	0.07102	-1.0790	10	0.72032	D	0.01	.	8.5532	0.33465	1.0:0.0:0.0:0.0	.	116	Q7Z5H5	VN1R4_HUMAN	R	116	ENSP00000310856:W116R	ENSP00000310856:W116R	W	-	1	0	VN1R4	58462385	0.002000	0.14202	0.007000	0.13788	0.028000	0.11728	1.429000	0.34903	1.312000	0.45043	0.445000	0.29226	TGG		0.493	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857		4	34	0	0	0	0.000602	0	4	34				
ZNF525	170958	broad.mit.edu	37	19	53879127	53879127	+	Silent	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:53879127T>C	ENST00000475179.1	+	3	234	c.120T>C	c.(118-120)aaT>aaC	p.N40N	ZNF525_ENST00000491101.1_Silent_p.N40N|ZNF525_ENST00000593918.1_Silent_p.N40N|ZNF525_ENST00000474037.1_Silent_p.N40N|ZNF525_ENST00000467003.1_Silent_p.N4N			Q8N782	ZN525_HUMAN	zinc finger protein 525	0					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)			endometrium(3)|kidney(3)|lung(3)	9						TGCTGGAGAATTATAGGAACC	0.458																																							uc010eqn.2		NA																	0					0						c.(10-12)AAT>AAC		Homo sapiens cDNA FLJ39718 fis, clone SMINT2013695.																																				SO:0001819	synonymous_variant	170958							g.chr19:53879127T>C	AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277	ENST00000475179.1:c.120T>C	19.37:g.53879127T>C						ZNF525_uc002qbl.2_RNA|ZNF765_uc010ydx.1_5'UTR	p.N4N	NR_003699						3	205	+								Q8TF23	Silent	SNP	ENST00000475179.1	37	c.12T>C																																																																																					0.458	ZNF525-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000350553.1	NR_003699		4	106	0	0	0	0.000602	0	4	106				
NLRP12	91662	broad.mit.edu	37	19	54313203	54313203	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:54313203C>A	ENST00000324134.6	-	3	1878	c.1710G>T	c.(1708-1710)gaG>gaT	p.E570D	NLRP12_ENST00000391773.1_Missense_Mutation_p.E570D|NLRP12_ENST00000354278.3_Missense_Mutation_p.E570D|NLRP12_ENST00000351894.4_Missense_Mutation_p.E570D|NLRP12_ENST00000391772.1_Missense_Mutation_p.E570D|NLRP12_ENST00000345770.5_Missense_Mutation_p.E570D|NLRP12_ENST00000391775.3_Missense_Mutation_p.E570D|NLRP12_ENST00000535162.1_Missense_Mutation_p.E570D	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	570					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGCTCCTGGTCTCCTCGTTCA	0.572																																							uc002qch.3		NA																	0				ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7						c.(1708-1710)GAG>GAT		NLR family, pyrin domain containing 12 isoform							83.0	80.0	81.0					19																	54313203		2203	4300	6503	SO:0001583	missense	91662				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	g.chr19:54313203C>A	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1710G>T	19.37:g.54313203C>A	ENSP00000319377:p.Glu570Asp					NLRP12_uc010eqw.2_5'Flank|NLRP12_uc002qci.3_Missense_Mutation_p.E570D|NLRP12_uc002qcj.3_Missense_Mutation_p.E570D|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.E570D	p.E570D	NM_144687	NP_653288	P59046	NAL12_HUMAN		GBM - Glioblastoma multiforme(134;0.026)	3	1930	-	Ovarian(34;0.19)		570					A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	c.1710G>T	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	C	5.073	0.199043	0.09652	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	4.05	2.98	0.34508	.	0.202543	0.24357	N	0.039239	T	0.72716	0.3495	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.19935	0.022;0.012;0.022;0.04	B;B;B;B	0.20384	0.011;0.007;0.011;0.029	T	0.63075	-0.6718	10	0.21540	T	0.41	.	9.9177	0.41446	0.0:0.7916:0.2084:0.0	.	570;570;570;570	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	D	570	ENSP00000319377:E570D;ENSP00000438030:E570D;ENSP00000340473:E570D;ENSP00000346231:E570D;ENSP00000375655:E570D;ENSP00000375653:E570D;ENSP00000375652:E570D	ENSP00000319377:E570D	E	-	3	2	NLRP12	59005015	0.010000	0.17322	0.064000	0.19789	0.323000	0.28346	-0.135000	0.10420	0.794000	0.33899	0.485000	0.47835	GAG		0.572	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687		14	74	1	0	1.52009e-12	0.003163	2.70238e-12	14	74				
LILRA1	11024	broad.mit.edu	37	19	55105928	55105928	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:55105928C>A	ENST00000251372.3	+	3	239	c.57C>A	c.(55-57)acC>acA	p.T19T	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Silent_p.T19T|LILRB1_ENST00000418536.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	19					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCCCCCGGACCCACGTGCAGG	0.657																																							uc002qgh.1		NA																	0				skin(2)|ovary(1)	3						c.(55-57)ACC>ACA		leukocyte immunoglobulin-like receptor,							62.0	74.0	70.0					19																	55105928		2203	4300	6503	SO:0001819	synonymous_variant	11024				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	g.chr19:55105928C>A	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.57C>A	19.37:g.55105928C>A						LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Silent_p.T19T	p.T19T	NM_006863	NP_006854	O75019	LIRA1_HUMAN		GBM - Glioblastoma multiforme(193;0.0348)	3	239	+			19			Extracellular (Potential).		O75018|Q3MJA6	Silent	SNP	ENST00000251372.3	37	c.57C>A	CCDS12901.1																																																																																				0.657	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863		25	56	1	0	9.80776e-20	0.00632	1.90077e-19	25	56				
KIR3DL1	3811	broad.mit.edu	37	19	55294936	55294936	+	Intron	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:55294936A>T	ENST00000538269.1	+	2	61				KIR2DL1_ENST00000336077.6_Splice_Site|KIR2DL3_ENST00000434419.2_Splice_Site|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Splice_Site|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396284.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CATCTTCTACAGATGCTGCGG	0.522																																						GBM(72;624 1217 3963 34152 38303)	uc002qhb.1		NA																	0					0						c.e7-2		killer cell immunoglobulin-like receptor, two							112.0	114.0	113.0					19																	55294936		2169	4187	6356	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55294936A>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-34053A>T	19.37:g.55294936A>T						KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_5'Flank|KIR2DL3_uc010erw.1_Splice_Site_p.N274_splice|KIR2DL1_uc002qgz.1_Splice_Site_p.N183_splice|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Splice_Site_p.N299_splice	p.N273_splice	NM_014218	NP_055033	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	7	856	+								O43473|Q14946|Q16541	Splice_Site	SNP	ENST00000538269.1	37	c.818_splice		.	.	.	.	.	.	.	.	.	.	.	4.470	0.087160	0.08583	.	.	ENSG00000243772;ENSG00000125498;ENSG00000125498	ENST00000434419;ENST00000336077;ENST00000291633	.	.	.	0.929	0.929	0.19449	.	.	.	.	.	.	.	.	.	.	.	0.21355	N	0.999716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.1028	0.10023	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIR2DL1;KIR2DL3	59986748	0.022000	0.18835	0.008000	0.14137	0.026000	0.11368	1.467000	0.35321	0.661000	0.30985	0.155000	0.16302	.		0.522	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		10	65	0	0	0	0.010729	0	10	65				
KIR3DL1	3811	broad.mit.edu	37	19	55354358	55354358	+	Intron	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:55354358C>A	ENST00000402254.2	+	6	1033				KIR2DS4_ENST00000339924.8_RNA			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ACCCACTGAACCAAGCTCCAA	0.498																																							uc002qhm.1		NA																	0					0						c.(700-702)CCA>ACA		killer cell immunoglobulin-like receptor, two							136.0	119.0	125.0					19																	55354358		1491	2626	4117	SO:0001627	intron_variant	3809					integral to plasma membrane	receptor activity	g.chr19:55354358C>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000402254.2:c.1000+17825C>A	19.37:g.55354358C>A						KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Intron|KIR2DS4_uc002qhn.1_Intron	p.P234T	NM_012314	NP_036446	P43632	KI2S4_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	6	746	+			234			Extracellular (Potential).		O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000402254.2	37	c.700C>A																																																																																					0.498	KIR3DL1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_013289		37	171	1	0	1.02591e-13	0.010771	1.88219e-13	37	171				
NLRP7	199713	broad.mit.edu	37	19	55450411	55450411	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:55450411C>G	ENST00000590030.1	-	3	1816	c.1776G>C	c.(1774-1776)aaG>aaC	p.K592N	NLRP7_ENST00000448121.2_Missense_Mutation_p.K592N|NLRP7_ENST00000446217.1_Missense_Mutation_p.K620N|NLRP7_ENST00000592784.1_Missense_Mutation_p.K592N|NLRP7_ENST00000588756.1_Missense_Mutation_p.K592N|NLRP7_ENST00000328092.5_Missense_Mutation_p.K592N|NLRP7_ENST00000340844.2_Missense_Mutation_p.K592N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	592							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TAGAAATTTCCTTGAACGGGG	0.498																																							uc002qih.3		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(1774-1776)AAG>AAC		NACHT, leucine rich repeat and PYD containing 7							76.0	72.0	74.0					19																	55450411		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55450411C>G	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1776G>C	19.37:g.55450411C>G	ENSP00000465520:p.Lys592Asn					NLRP7_uc002qig.3_Missense_Mutation_p.K592N|NLRP7_uc002qii.3_Missense_Mutation_p.K592N|NLRP7_uc010esk.2_Missense_Mutation_p.K592N|NLRP7_uc010esl.2_Missense_Mutation_p.K620N	p.K592N	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1852	-			592					E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1776G>C	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	C	6.402	0.442318	0.12164	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	1.92	-3.83	0.04269	.	.	.	.	.	T	0.48840	0.1522	L	0.57536	1.79	0.09310	N	1	B;B;B;P	0.39862	0.415;0.415;0.415;0.692	B;B;B;P	0.44990	0.205;0.276;0.276;0.466	T	0.46624	-0.9178	9	0.38643	T	0.18	.	7.6716	0.28462	0.0:0.3008:0.0:0.6992	.	620;592;592;592	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	N	592;592;592;620;359	ENSP00000329568:K592N;ENSP00000409137:K592N;ENSP00000339491:K592N;ENSP00000414273:K620N	ENSP00000329568:K592N	K	-	3	2	NLRP7	60142223	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.024000	0.00641	-1.212000	0.02620	-1.263000	0.01449	AAG		0.498	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		7	38	0	0	0	0.001984	0	7	38				
NLRP7	199713	broad.mit.edu	37	19	55450426	55450426	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:55450426C>A	ENST00000590030.1	-	3	1801	c.1761G>T	c.(1759-1761)gtG>gtT	p.V587V	NLRP7_ENST00000448121.2_Silent_p.V587V|NLRP7_ENST00000446217.1_Silent_p.V615V|NLRP7_ENST00000592784.1_Silent_p.V587V|NLRP7_ENST00000588756.1_Silent_p.V587V|NLRP7_ENST00000328092.5_Silent_p.V587V|NLRP7_ENST00000340844.2_Silent_p.V587V			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	587							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACGGGGCCACCACCACCTTCG	0.488																																							uc002qih.3		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(1759-1761)GTG>GTT		NACHT, leucine rich repeat and PYD containing 7							77.0	74.0	75.0					19																	55450426		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55450426C>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1761G>T	19.37:g.55450426C>A						NLRP7_uc002qig.3_Silent_p.V587V|NLRP7_uc002qii.3_Silent_p.V587V|NLRP7_uc010esk.2_Silent_p.V587V|NLRP7_uc010esl.2_Silent_p.V615V	p.V587V	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1837	-			587					E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.1761G>T	CCDS33109.1																																																																																				0.488	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		9	40	1	0	0.000274275	0.004482	0.000331637	9	40				
UBE2S	27338	broad.mit.edu	37	19	55912895	55912895	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:55912895C>T	ENST00000264552.9	-	4	765	c.578G>A	c.(577-579)gGt>gAt	p.G193D	RPL28_ENST00000560055.1_Intron|UBE2S_ENST00000592570.1_5'Flank|CTD-2105E13.13_ENST00000589101.1_lincRNA	NM_014501.2	NP_055316.2	Q16763	UBE2S_HUMAN	ubiquitin-conjugating enzyme E2S	193					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular protein modification process (GO:0006464)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)	anaphase-promoting complex (GO:0005680)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		GGCCATGGGACCCTCAGCCCC	0.701																																							uc002qkx.1		NA																	0					0						c.(577-579)GGT>GAT		ubiquitin-conjugating enzyme E2S							18.0	21.0	20.0					19																	55912895		1871	3873	5744	SO:0001583	missense	27338				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity	g.chr19:55912895C>T	BC004236	CCDS33114.1	19q13.43	2008-02-05				ENSG00000108106		"""Ubiquitin-conjugating enzymes E2"""	17895	protein-coding gene	gene with protein product	"""ubiquitin carrier protein"", ""ubiquitin-conjugating enzyme E2-24 kD"", ""ubiquitin-protein ligase"""	610309				1379239	Standard	NM_014501		Approved	E2-EPF	uc002qkx.1	Q16763		ENST00000264552.9:c.578G>A	19.37:g.55912895C>T	ENSP00000264552:p.Gly193Asp						p.G193D	NM_014501	NP_055316	Q16763	UBE2S_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)	4	946	-	Breast(117;0.155)		193					Q9BTC1	Missense_Mutation	SNP	ENST00000264552.9	37	c.578G>A	CCDS33114.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404306	0.83230	.	.	ENSG00000108106	ENST00000264552	T	0.59638	0.25	4.56	4.56	0.56223	.	0.148941	0.64402	D	0.000010	T	0.63908	0.2551	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.66866	-0.5815	10	0.62326	D	0.03	-24.185	13.2064	0.59798	0.0:1.0:0.0:0.0	.	193	Q16763	UBE2S_HUMAN	D	193	ENSP00000264552:G193D	ENSP00000264552:G193D	G	-	2	0	UBE2S	60604707	0.997000	0.39634	0.994000	0.49952	0.963000	0.63663	4.966000	0.63715	2.271000	0.75665	0.561000	0.74099	GGT		0.701	UBE2S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453088.1	NM_014501		5	32	0	0	0	0.000602	0	5	32				
NLRP13	126204	broad.mit.edu	37	19	56413443	56413443	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:56413443C>A	ENST00000342929.3	-	9	2746	c.2747G>T	c.(2746-2748)tGt>tTt	p.C916F	NLRP13_ENST00000588751.1_Missense_Mutation_p.C916F	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	916							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAGGCCTCACACAGGAACTT	0.542																																							uc010ygg.1		NA																	0				skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(2746-2748)TGT>TTT		NACHT, leucine rich repeat and PYD containing							139.0	103.0	116.0					19																	56413443		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56413443C>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2747G>T	19.37:g.56413443C>A	ENSP00000343891:p.Cys916Phe						p.C916F	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	9	2772	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	916			LRR 4.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.2747G>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	10.11	1.260609	0.23051	.	.	ENSG00000173572	ENST00000342929	T	0.64438	-0.1	2.52	1.45	0.22620	.	.	.	.	.	T	0.63558	0.2521	M	0.78285	2.405	0.09310	N	1	B	0.21520	0.057	B	0.31869	0.137	T	0.60954	-0.7160	9	0.72032	D	0.01	.	7.7282	0.28771	0.0:0.7362:0.2638:0.0	.	916	Q86W25	NAL13_HUMAN	F	916	ENSP00000343891:C916F	ENSP00000343891:C916F	C	-	2	0	NLRP13	61105255	0.265000	0.24102	0.002000	0.10522	0.050000	0.14768	0.969000	0.29370	0.379000	0.24794	-0.354000	0.07668	TGT		0.542	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		7	34	1	0	1.26484e-09	0.00308	2.04756e-09	7	34				
PEG3	5178	broad.mit.edu	37	19	57328461	57328461	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:57328461A>T	ENST00000326441.9	-	10	1712	c.1349T>A	c.(1348-1350)aTg>aAg	p.M450K	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.M324K|PEG3_ENST00000598410.1_Missense_Mutation_p.M326K|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.M450K|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	450					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TACATATGGCATTGCCCCAAA	0.483																																							uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1348-1350)ATG>AAG		paternally expressed 3 isoform 1							190.0	169.0	176.0					19																	57328461		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328461A>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1349T>A	19.37:g.57328461A>T	ENSP00000326581:p.Met450Lys					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.M421K|PEG3_uc002qnv.2_Missense_Mutation_p.M450K|PEG3_uc002qnw.2_Missense_Mutation_p.M326K|PEG3_uc002qnx.2_Missense_Mutation_p.M324K|PEG3_uc010etr.2_Missense_Mutation_p.M450K	p.M450K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1700	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	450					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1349T>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.137127	0.00335	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.01335	5.0;5.0	4.14	0.794	0.18638	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.487974	0.19305	N	0.117531	T	0.01905	0.0060	L	0.29908	0.895	.	.	.	B;D;P	0.55800	0.005;0.973;0.651	B;D;B	0.64042	0.003;0.921;0.115	T	0.30090	-0.9990	9	0.02654	T	1	-10.1588	2.6473	0.04988	0.4484:0.0:0.1989:0.3527	.	326;450;385	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	K	450;450;420	ENSP00000326581:M450K;ENSP00000403051:M450K	ENSP00000292074:M420K	M	-	2	0	ZIM2	62020273	0.001000	0.12720	0.024000	0.17045	0.094000	0.18550	0.297000	0.19101	0.047000	0.15862	0.528000	0.53228	ATG		0.483	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			19	95	0	0	0	0.007413	0	19	95				
ZNF324B	388569	broad.mit.edu	37	19	58965140	58965140	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:58965140C>T	ENST00000336614.4	+	2	179	c.72C>T	c.(70-72)gcC>gcT	p.A24A	ZNF324B_ENST00000391696.1_5'UTR|ZNF324B_ENST00000594214.1_Silent_p.A24A|ZNF324B_ENST00000545523.1_Silent_p.A24A	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGCAGAGGGCCCTGTACCGCC	0.572																																							uc002qsv.1		NA																	0				ovary(1)	1						c.(70-72)GCC>GCT		zinc finger protein 324B							132.0	95.0	107.0					19																	58965140		2203	4300	6503	SO:0001819	synonymous_variant	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58965140C>T	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.72C>T	19.37:g.58965140C>T						ZNF324B_uc002qsu.1_5'UTR|ZNF324B_uc010euq.1_Silent_p.A24A	p.A24A	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	2	179	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	24			KRAB.		B2RTZ6|Q6ZMX8|Q6ZS42	Silent	SNP	ENST00000336614.4	37	c.72C>T	CCDS33138.1																																																																																				0.572	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		9	55	0	0	0	0.004482	0	9	55				
NCOA1	8648	broad.mit.edu	37	2	24888641	24888641	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:24888641A>G	ENST00000406961.1	+	6	765	c.113A>G	c.(112-114)cAa>cGa	p.Q38R	NCOA1_ENST00000405141.1_Missense_Mutation_p.Q38R|NCOA1_ENST00000348332.3_Missense_Mutation_p.Q38R|NCOA1_ENST00000395856.3_Missense_Mutation_p.Q38R|NCOA1_ENST00000538539.1_Missense_Mutation_p.Q38R|NCOA1_ENST00000288599.5_Missense_Mutation_p.Q38R|NCOA1_ENST00000407230.1_Intron			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	38	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCAGGGAGCAAGAAAATAAA	0.373			T	PAX3	alveolar rhadomyosarcoma																																		uc002rfk.2		NA		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(112-114)CAA>CGA		nuclear receptor coactivator 1 isoform 1							102.0	107.0	105.0					2																	24888641		2203	4300	6503	SO:0001583	missense	8648							g.chr2:24888641A>G	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.113A>G	2.37:g.24888641A>G	ENSP00000385216:p.Gln38Arg					NCOA1_uc010eye.2_Missense_Mutation_p.Q38R|NCOA1_uc002rfi.2_Intron|NCOA1_uc002rfj.2_Missense_Mutation_p.Q38R|NCOA1_uc002rfl.2_Missense_Mutation_p.Q38R	p.Q38R	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			4	371	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		38			Helix-loop-helix motif.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	ENST00000406961.1	37	c.113A>G	CCDS1712.1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.782197	0.70222	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	D;D;D;D;D;D	0.97232	-4.3;-4.3;-4.3;-4.3;-4.3;-4.3	4.9	3.75	0.43078	Helix-loop-helix DNA-binding (4);	0.134403	0.51477	N	0.000081	D	0.96935	0.8999	L	0.57536	1.79	0.44439	D	0.997367	D;D;P	0.62365	0.991;0.981;0.5	P;P;P	0.58130	0.801;0.833;0.45	D	0.96230	0.9167	10	0.62326	D	0.03	.	10.2689	0.43470	0.9214:0.0:0.0786:0.0	.	38;38;38	Q15788-3;Q15788;Q15788-2	.;NCOA1_HUMAN;.	R	38	ENSP00000385216:Q38R;ENSP00000385097:Q38R;ENSP00000444039:Q38R;ENSP00000320940:Q38R;ENSP00000288599:Q38R;ENSP00000379197:Q38R	ENSP00000288599:Q38R	Q	+	2	0	NCOA1	24742145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.334000	0.43920	1.000000	0.39049	0.533000	0.62120	CAA		0.373	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		6	31	0	0	0	0.001168	0	6	31				
VIT	5212	broad.mit.edu	37	2	37036038	37036038	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:37036038A>T	ENST00000389975.3	+	14	2070	c.1768A>T	c.(1768-1770)Aag>Tag	p.K590*	VIT_ENST00000404084.1_Nonsense_Mutation_p.K542*|VIT_ENST00000497382.1_Nonsense_Mutation_p.K259*|VIT_ENST00000379241.3_Nonsense_Mutation_p.K568*|VIT_ENST00000379242.3_Nonsense_Mutation_p.K605*|VIT_ENST00000401530.1_Nonsense_Mutation_p.K569*	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	590	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CAAGAAGTCCAAGCCCAACAA	0.587																																							uc002rpl.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1813-1815)AAG>TAG		vitrin							70.0	70.0	70.0					2																	37036038		2203	4300	6503	SO:0001587	stop_gained	5212					proteinaceous extracellular matrix		g.chr2:37036038A>T	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1768A>T	2.37:g.37036038A>T	ENSP00000374625:p.Lys590*					VIT_uc002rpm.2_Nonsense_Mutation_p.K583*|VIT_uc010ezv.2_Nonsense_Mutation_p.K561*|VIT_uc010ezw.2_Nonsense_Mutation_p.K562*	p.K605*	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN			15	2034	+		all_hematologic(82;0.248)	590			VWFA 2.		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Nonsense_Mutation	SNP	ENST00000389975.3	37	c.1813A>T	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	A	39	7.719939	0.98453	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-23.5292	10.0614	0.42277	0.9254:0.0:0.0746:0.0	.	.	.	.	X	605;590;259;542;568;569	.	ENSP00000368543:K568X	K	+	1	0	VIT	36889542	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.493000	0.81493	2.095000	0.63458	0.528000	0.53228	AAG		0.587	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				6	32	0	0	0	0.001168	0	6	32				
ABCG8	64241	broad.mit.edu	37	2	44100965	44100965	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:44100965C>A	ENST00000272286.2	+	9	1341	c.1251C>A	c.(1249-1251)ctC>ctA	p.L417L		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	417	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGCCCACCCTCCTCATCCATG	0.557																																							uc002rtq.2		NA																	0				skin(3)|ovary(1)	4						c.(1249-1251)CTC>CTA		ATP-binding cassette sub-family G member 8							200.0	197.0	198.0					2																	44100965		2203	4300	6503	SO:0001819	synonymous_variant	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44100965C>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1251C>A	2.37:g.44100965C>A						ABCG8_uc010yoa.1_Silent_p.L416L	p.L417L	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			9	1341	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	417			Helical; Name=1; (Potential).|ABC transmembrane type-2.		Q53QN8	Silent	SNP	ENST00000272286.2	37	c.1251C>A	CCDS1815.1																																																																																				0.557	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		14	133	1	0	4.3838e-07	0.001855	6.43082e-07	14	133				
PSME4	23198	broad.mit.edu	37	2	54147481	54147481	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:54147481C>T	ENST00000404125.1	-	19	2324	c.2269G>A	c.(2269-2271)Ggc>Agc	p.G757S	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	757					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCGGGTTTGCCCCAGTCCTAG	0.393																																							uc002rxp.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(2269-2271)GGC>AGC		proteasome (prosome, macropain) activator							76.0	81.0	79.0					2																	54147481		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54147481C>T	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.2269G>A	2.37:g.54147481C>T	ENSP00000384211:p.Gly757Ser					PSME4_uc010yop.1_Missense_Mutation_p.G643S|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.G132S|PSME4_uc010fbv.1_Intron	p.G757S	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		19	2325	-			757					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.2269G>A	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928114	0.92389	.	.	ENSG00000068878	ENST00000404125	T	0.35605	1.3	5.72	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.62950	0.2470	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.69397	-0.5156	10	0.72032	D	0.01	.	14.5842	0.68312	0.0:0.9299:0.0:0.0701	.	132;757	Q14997-2;Q14997	.;PSME4_HUMAN	S	757	ENSP00000384211:G757S	ENSP00000384211:G757S	G	-	1	0	PSME4	54000985	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.786000	0.85741	1.415000	0.47037	0.650000	0.86243	GGC		0.393	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		10	55	0	0	0	0.010729	0	10	55				
DYSF	8291	broad.mit.edu	37	2	71780291	71780291	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:71780291A>T	ENST00000258104.3	+	20	2180	c.1903A>T	c.(1903-1905)Act>Tct	p.T635S	DYSF_ENST00000409744.1_Missense_Mutation_p.T622S|DYSF_ENST00000409651.1_Missense_Mutation_p.T667S|DYSF_ENST00000394120.2_Missense_Mutation_p.T636S|DYSF_ENST00000429174.2_Missense_Mutation_p.T635S|DYSF_ENST00000410041.1_Missense_Mutation_p.T653S|DYSF_ENST00000410020.3_Missense_Mutation_p.T653S|DYSF_ENST00000409582.3_Missense_Mutation_p.T652S|DYSF_ENST00000413539.2_Missense_Mutation_p.T666S|DYSF_ENST00000409762.1_Missense_Mutation_p.T652S|DYSF_ENST00000409366.1_Missense_Mutation_p.T636S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	635					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGCCTCCACCACTCAGTACAG	0.587																																							uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(1903-1905)ACT>TCT		dysferlin isoform 8							106.0	90.0	96.0					2																	71780291		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71780291A>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1903A>T	2.37:g.71780291A>T	ENSP00000258104:p.Thr635Ser					DYSF_uc010feg.2_Missense_Mutation_p.T666S|DYSF_uc010feh.2_Missense_Mutation_p.T621S|DYSF_uc002sig.3_Missense_Mutation_p.T621S|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.T635S|DYSF_uc010fef.2_Missense_Mutation_p.T652S|DYSF_uc010fei.2_Missense_Mutation_p.T652S|DYSF_uc010fek.2_Missense_Mutation_p.T653S|DYSF_uc010fej.2_Missense_Mutation_p.T622S|DYSF_uc010fel.2_Missense_Mutation_p.T622S|DYSF_uc010feo.2_Missense_Mutation_p.T667S|DYSF_uc010fem.2_Missense_Mutation_p.T636S|DYSF_uc010fen.2_Missense_Mutation_p.T653S|DYSF_uc002sif.2_Missense_Mutation_p.T636S	p.T635S	NM_003494	NP_003485	O75923	DYSF_HUMAN			20	2279	+			635			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.1903A>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	A	32	5.124875	0.94429	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.86297	-2.09;-2.1;-2.1;-2.1;-2.09;-2.09;-2.09;-2.1;-2.09;-2.1;-2.1	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.92103	0.7497	M	0.71581	2.175	0.58432	D	0.999993	P;P;P;P;D;D;D;D;P;D;D;P;P;P	0.76494	0.951;0.951;0.951;0.951;0.989;0.989;0.989;0.998;0.951;0.999;0.967;0.913;0.951;0.919	P;P;P;P;D;D;D;D;P;D;P;P;P;P	0.71870	0.749;0.749;0.749;0.686;0.975;0.975;0.975;0.975;0.749;0.975;0.88;0.686;0.749;0.566	D	0.92483	0.5994	10	0.56958	D	0.05	-28.7724	13.2233	0.59901	1.0:0.0:0.0:0.0	.	667;653;636;622;653;622;652;621;666;652;635;621;636;635	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	S	666;652;652;635;635;667;636;622;636;653;653	ENSP00000407046:T666S;ENSP00000387137:T652S;ENSP00000386547:T652S;ENSP00000398305:T635S;ENSP00000258104:T635S;ENSP00000386683:T667S;ENSP00000377678:T636S;ENSP00000386285:T622S;ENSP00000386512:T636S;ENSP00000386881:T653S;ENSP00000386617:T653S	ENSP00000258104:T635S	T	+	1	0	DYSF	71633799	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.310000	0.96267	2.014000	0.59158	0.533000	0.62120	ACT		0.587	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		9	45	0	0	0	0.010729	0	9	45				
CTNNA2	1496	broad.mit.edu	37	2	80801338	80801338	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:80801338G>T	ENST00000402739.4	+	12	1797	c.1792G>T	c.(1792-1794)Gcc>Tcc	p.A598S	CTNNA2_ENST00000361291.4_Missense_Mutation_p.A632S|CTNNA2_ENST00000343114.3_Missense_Mutation_p.A277S|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A598S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A598S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A598S|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A598S|AC008067.2_ENST00000430876.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	598					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)			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						AGCCCTGAGTGCCAACGTTCC	0.488																																							uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1792-1794)GCC>TCC		catenin, alpha 2 isoform 1							191.0	182.0	185.0					2																	80801338		2117	4261	6378	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.chr2:80801338G>T		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.1792G>T	2.37:g.80801338G>T	ENSP00000384638:p.Ala598Ser					CTNNA2_uc010yse.1_Missense_Mutation_p.A598S|CTNNA2_uc010ysf.1_Missense_Mutation_p.A598S|CTNNA2_uc010ysg.1_Missense_Mutation_p.A598S|CTNNA2_uc010ysi.1_Missense_Mutation_p.A230S	p.A598S	NM_004389	NP_004380	P26232	CTNA2_HUMAN			12	1797	+			598					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1792G>T		.	.	.	.	.	.	.	.	.	.	G	7.244	0.601887	0.13939	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.75	5.75	0.90469	.	0.129745	0.53938	D	0.000051	T	0.15478	0.0373	N	0.01015	-1.05	0.40946	D	0.984501	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.002;0.001;0.001	T	0.24835	-1.0149	9	.	.	.	.	19.9501	0.97195	0.0:0.0:1.0:0.0	.	230;598;598;598	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	S	598;598;632;598;598;598;277	ENSP00000418191:A598S;ENSP00000419295:A598S;ENSP00000355398:A632S;ENSP00000384638:A598S;ENSP00000444675:A598S;ENSP00000441705:A598S;ENSP00000341500:A277S	.	A	+	1	0	CTNNA2	80654849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.085000	0.41634	2.732000	0.93576	0.655000	0.94253	GCC		0.488	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		22	67	1	0	1.5548e-18	0.005443	2.97967e-18	22	67				
TEKT4	150483	broad.mit.edu	37	2	95537426	95537426	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:95537426C>T	ENST00000295201.4	+	1	239	c.102C>T	c.(100-102)ttC>ttT	p.F34F	TEKT4_ENST00000427593.2_Silent_p.F34F|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	34					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCGCCAGCTTCCGCACCTCCA	0.677																																							uc002stw.1		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(100-102)TTC>TTT		tektin 4							29.0	34.0	32.0					2																	95537426		2149	4176	6325	SO:0001819	synonymous_variant	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537426C>T	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.102C>T	2.37:g.95537426C>T						uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	p.F34F	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN			1	195	+			34						Silent	SNP	ENST00000295201.4	37	c.102C>T	CCDS2005.1																																																																																				0.677	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		6	31	0	0	0	0.001168	0	6	31				
VWA3B	200403	broad.mit.edu	37	2	98732176	98732176	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:98732176G>C	ENST00000477737.1	+	3	462	c.258G>C	c.(256-258)caG>caC	p.Q86H	VWA3B_ENST00000435344.1_Missense_Mutation_p.Q86H|VWA3B_ENST00000451075.2_Missense_Mutation_p.S20T	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	86										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTTTCCACAGCTCTACAGAG	0.458																																							uc002syo.2		NA																	0				ovary(3)|large_intestine(2)|skin(1)	6						c.(256-258)CAG>CAC		von Willebrand factor A domain containing 3B							92.0	89.0	90.0					2																	98732176		2093	4242	6335	SO:0001583	missense	200403							g.chr2:98732176G>C	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.258G>C	2.37:g.98732176G>C	ENSP00000417955:p.Gln86His					VWA3B_uc010yvh.1_Missense_Mutation_p.S20T|VWA3B_uc002syj.2_RNA|VWA3B_uc002syk.1_RNA|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.2_Missense_Mutation_p.Q86H|VWA3B_uc002syn.1_RNA	p.Q86H	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN			3	522	+			86					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	c.258G>C	CCDS42718.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.85|12.85	2.062419|2.062419	0.36373|0.36373	.|.	.|.	ENSG00000168658|ENSG00000168658	ENST00000435344;ENST00000477737|ENST00000451075	T;T|T	0.33216|0.15718	1.42;1.42|2.4	5.53|5.53	4.46|4.46	0.54185|0.54185	.|.	0.451753|.	0.20750|.	N|.	0.086368|.	T|T	0.17152|0.17152	0.0412|0.0412	M|M	0.69823|0.69823	2.125|2.125	0.09310|0.09310	N|N	1|1	P;D|P	0.69078|0.38922	0.954;0.997|0.651	P;D|B	0.64144|0.29785	0.789;0.922|0.107	T|T	0.27365|0.27365	-1.0076|-1.0076	10|9	0.66056|0.72032	D|D	0.02|0.01	.|.	7.4177|7.4177	0.27055|0.27055	0.2306:0.0:0.7694:0.0|0.2306:0.0:0.7694:0.0	.|.	86;86|20	Q502W6;Q502W6-8|B7Z7Q7	VWA3B_HUMAN;.|.	H|T	86|20	ENSP00000401959:Q86H;ENSP00000417955:Q86H|ENSP00000389463:S20T	ENSP00000411168:Q86H|ENSP00000389463:S20T	Q|S	+|+	3|2	2|0	VWA3B|VWA3B	98098608|98098608	0.897000|0.897000	0.30589|0.30589	0.127000|0.127000	0.21898|0.21898	0.874000|0.874000	0.50279|0.50279	1.081000|1.081000	0.30791|0.30791	2.601000|2.601000	0.87937|0.87937	0.563000|0.563000	0.77884|0.77884	CAG|AGC		0.458	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		3	23	0	0	0	0.004672	0	3	23				
AFF3	3899	broad.mit.edu	37	2	100210181	100210181	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:100210181C>T	ENST00000409236.2	-	13	2054	c.1942G>A	c.(1942-1944)Gag>Aag	p.E648K	AFF3_ENST00000356421.2_Missense_Mutation_p.E673K|AFF3_ENST00000317233.4_Missense_Mutation_p.E648K|AFF3_ENST00000409579.1_Missense_Mutation_p.E673K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	648					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.E673*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGGCGCTTCTCGCAGGTCACG	0.637																																							uc002tag.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(1942-1944)GAG>AAG		AF4/FMR2 family, member 3 isoform 1							53.0	57.0	56.0					2																	100210181		2202	4300	6502	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100210181C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1942G>A	2.37:g.100210181C>T	ENSP00000387207:p.Glu648Lys					AFF3_uc002taf.2_Missense_Mutation_p.E673K|AFF3_uc010fiq.1_Missense_Mutation_p.E648K|AFF3_uc010yvr.1_Missense_Mutation_p.E801K|AFF3_uc002tah.1_Missense_Mutation_p.E673K	p.E648K	NM_002285	NP_002276	P51826	AFF3_HUMAN			14	2178	-			648					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1942G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014656	0.75161	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.17	4.29	0.51040	.	0.573456	0.16918	N	0.194196	D	0.83175	0.5197	M	0.77820	2.39	0.42674	D	0.993529	P;D;P	0.89917	0.814;1.0;0.601	B;D;B	0.83275	0.29;0.996;0.112	T	0.82106	-0.0621	10	0.37606	T	0.19	.	13.6398	0.62243	0.0:0.925:0.0:0.075	.	801;648;673	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	K	648;673;673;648;648;801;673	ENSP00000317421:E648K;ENSP00000348793:E673K;ENSP00000386834:E673K;ENSP00000387207:E648K	ENSP00000317421:E648K	E	-	1	0	AFF3	99576613	0.995000	0.38212	0.870000	0.34147	0.705000	0.40729	3.093000	0.50217	1.196000	0.43129	0.561000	0.74099	GAG		0.637	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		6	41	0	0	0	0.001984	0	6	41				
ANAPC1	64682	broad.mit.edu	37	2	112588917	112588917	+	Missense_Mutation	SNP	C	C	A	rs149309834	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:112588917C>A	ENST00000341068.3	-	21	3343	c.2571G>T	c.(2569-2571)atG>atT	p.M857I		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	857					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)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GATAAGGTGGCATTCCTTCAC	0.393																																							uc002thi.2		NA																	0				skin(2)	2						c.(2569-2571)ATG>ATT		anaphase promoting complex subunit 1							102.0	91.0	95.0					2																	112588917		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|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		g.chr2:112588917C>A	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.2571G>T	2.37:g.112588917C>A	ENSP00000339109:p.Met857Ile						p.M857I	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			21	2818	-			857					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.2571G>T	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.024|9.024	0.985654|0.985654	0.18889|0.18889	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000427997|ENST00000341068	.|.	.|.	.|.	4.25|4.25	1.05|1.05	0.20165|0.20165	.|.	.|0.328743	.|0.19632	.|U	.|0.109653	T|T	0.20700|0.20700	0.0498|0.0498	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.06405	.|0.002	T|T	0.26677|0.26677	-1.0096|-1.0096	5|9	.|0.05351	.|T	.|0.99	-1.9146|-1.9146	6.3008|6.3008	0.21111|0.21111	0.1378:0.6233:0.0:0.2389|0.1378:0.6233:0.0:0.2389	.|.	.|857	.|Q9H1A4	.|APC1_HUMAN	S|I	392|857	.|.	.|ENSP00000339109:M857I	A|M	-|-	1|3	0|0	ANAPC1|ANAPC1	112305388|112305388	0.001000|0.001000	0.12720|0.12720	0.127000|0.127000	0.21898|0.21898	0.943000|0.943000	0.58893|0.58893	0.033000|0.033000	0.13754|0.13754	0.849000|0.849000	0.35215|0.35215	0.313000|0.313000	0.20887|0.20887	GCC|ATG		0.393	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		3	34	1	0	0.004672	0.004672	0.00515945	3	34				
MAP3K19	80122	broad.mit.edu	37	2	135779284	135779284	+	Splice_Site	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:135779284C>A	ENST00000375845.3	-	2	169		c.e2+1		MAP3K19_ENST00000392918.3_Splice_Site|MAP3K19_ENST00000315513.3_Splice_Site|MAP3K19_ENST00000392915.1_Splice_Site|MAP3K19_ENST00000375844.3_Splice_Site|MAP3K19_ENST00000392917.3_Splice_Site|MAP3K19_ENST00000358371.4_Splice_Site	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19								ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GAGGCTCTTACCTCACTTCTG	0.348																																							uc002tue.1		NA																	0				stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.e2+1		Yeast Sps1/Ste20-related kinase 4 isoform 1							146.0	130.0	135.0					2																	135779284		2203	4300	6503	SO:0001630	splice_region_variant	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135779284C>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.138+1G>T	2.37:g.135779284C>A						YSK4_uc010fne.1_Splice_Site_p.E18_splice|YSK4_uc002tuf.1_Splice_Site_p.E46_splice|YSK4_uc010fnc.1_Splice_Site_p.E46_splice|YSK4_uc010fnd.1_Splice_Site_p.E46_splice|YSK4_uc010zbg.1_Splice_Site_p.E46_splice|YSK4_uc002tui.3_Splice_Site_p.E63_splice	p.E46_splice	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	2	169	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Splice_Site	SNP	ENST00000375845.3	37	c.138_splice	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875737	0.33162	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915;ENST00000425952;ENST00000414343	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4744	0.55805	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	YSK4	135495754	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	3.593000	0.54001	2.318000	0.78349	0.591000	0.81541	.		0.348	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	Intron	8	20	1	0	0.00307968	0.00308	0.00347347	8	20				
LRP1B	53353	broad.mit.edu	37	2	140995780	140995780	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:140995780C>A	ENST00000389484.3	-	89	14472	c.13501G>T	c.(13501-13503)Gat>Tat	p.D4501Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4501					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)		TGATCATGATCTACCTCATAC	0.348										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.(13501-13503)GAT>TAT		low density lipoprotein-related protein 1B							205.0	191.0	196.0					2																	140995780		2202	4300	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:140995780C>A	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.13501G>T	2.37:g.140995780C>A	ENSP00000374135:p.Asp4501Tyr	TSP Lung(27;0.18)					p.D4501Y	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)	89	14473	-		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)	4501			Cytoplasmic (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.13501G>T	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.476663|4.476663	0.84640|0.84640	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000389484;ENST00000544579|ENST00000437977;ENST00000442974	D|.	0.91351|.	-2.83|.	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	0.133214|.	0.48286|.	D|.	0.000181|.	T|.	0.71316|.	0.3325|.	L|L	0.50333|0.50333	1.59|1.59	0.53688|0.53688	D|D	0.999976|0.999976	D|.	0.53885|.	0.963|.	P|.	0.54401|.	0.751|.	T|.	0.66069|.	-0.6015|.	10|.	0.62326|.	D|.	0.03|.	.|.	20.0784|20.0784	0.97758|0.97758	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4501|.	Q9NZR2|.	LRP1B_HUMAN|.	Y|Y	4501;4439|732;270	ENSP00000374135:D4501Y|.	ENSP00000374135:D4501Y|.	D|X	-|-	1|3	0|2	LRP1B|LRP1B	140712250|140712250	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.713000|0.713000	0.41058|0.41058	7.294000|7.294000	0.78760|0.78760	2.736000|2.736000	0.93811|0.93811	0.655000|0.655000	0.94253|0.94253	GAT|TAG		0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	35	1	0	8.12818e-05	0.001984	0.000102047	6	35				
LRP1B	53353	broad.mit.edu	37	2	141625316	141625316	+	Silent	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:141625316A>T	ENST00000389484.3	-	27	5393	c.4422T>A	c.(4420-4422)gcT>gcA	p.A1474A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1474					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)		ATAGAGACACAGCAAAGGGAT	0.433										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.(4420-4422)GCT>GCA		low density lipoprotein-related protein 1B							150.0	144.0	146.0					2																	141625316		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141625316A>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.4422T>A	2.37:g.141625316A>T		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Silent_p.A656A	p.A1474A	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)	27	5394	-		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)	1474			Extracellular (Potential).|LDL-receptor class B 12.		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.4422T>A	CCDS2182.1																																																																																				0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	69	0	0	0	0.001984	0	7	69				
LRP1B	53353	broad.mit.edu	37	2	141751612	141751612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:141751612C>A	ENST00000389484.3	-	16	3567	c.2596G>T	c.(2596-2598)Ggc>Tgc	p.G866C	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	866	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCGTCGCCATCACATTTC	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0		p.G866G(1)		lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2596-2598)GGC>TGC		low density lipoprotein-related protein 1B							134.0	126.0	129.0					2																	141751612		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141751612C>A	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.2596G>T	2.37:g.141751612C>A	ENSP00000374135:p.Gly866Cys	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.G866C	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)	16	3568	-		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)	866			Extracellular (Potential).|LDL-receptor class A 3.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2596G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244821	0.79912	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.96992	-4.2	5.8	5.8	0.92144	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.98982	0.9653	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99139	1.0855	10	0.87932	D	0	.	20.062	0.97678	0.0:1.0:0.0:0.0	.	866	Q9NZR2	LRP1B_HUMAN	C	866;804	ENSP00000374135:G866C	ENSP00000374135:G866C	G	-	1	0	LRP1B	141468082	1.000000	0.71417	0.952000	0.39060	0.334000	0.28698	7.727000	0.84838	2.730000	0.93505	0.563000	0.77884	GGC		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	37	1	0	0.00116845	0.001168	0.00134655	6	37				
ZEB2	9839	broad.mit.edu	37	2	145158817	145158817	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:145158817T>A	ENST00000558170.2	-	7	2049	c.865A>T	c.(865-867)Aag>Tag	p.K289*	ZEB2_ENST00000539609.3_Nonsense_Mutation_p.K265*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.K289*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.K289*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	289					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)			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)		TTGAAGGCCTTGCCACACTCT	0.438																																					Melanoma(33;1235 1264 5755 16332)	Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NA																	0				ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(865-867)AAG>TAG		zinc finger homeobox 1b							169.0	161.0	164.0					2																	145158817		2203	4300	6503	SO:0001587	stop_gained	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145158817T>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.865A>T	2.37:g.145158817T>A	ENSP00000454157:p.Lys289*					ZEB2_uc002tvv.2_Nonsense_Mutation_p.K283*|ZEB2_uc010zbm.1_Nonsense_Mutation_p.K260*|ZEB2_uc010fnp.2_Nonsense_Mutation_p.K197*|ZEB2_uc010fnq.1_Nonsense_Mutation_p.K318*	p.K289*	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	1345	-			289			C2H2-type 3.		A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	ENST00000558170.2	37	c.865A>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	T	36	5.613254	0.96637	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7325	15.323	0.74139	0.0:0.0:0.0:1.0	.	.	.	.	X	284;265;289;289;289;289	.	ENSP00000302501:K289X	K	-	1	0	ZEB2	144875287	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.041000	0.60428	0.402000	0.26972	AAG		0.438	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		16	71	0	0	0	0.007413	0	16	71				
SLC4A10	57282	broad.mit.edu	37	2	162735744	162735744	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:162735744G>T	ENST00000446997.1	+	9	1145	c.1052G>T	c.(1051-1053)aGg>aTg	p.R351M	SLC4A10_ENST00000535165.1_Missense_Mutation_p.R351M|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000375514.5_Missense_Mutation_p.R332M|SLC4A10_ENST00000415876.2_Missense_Mutation_p.R321M|SLC4A10_ENST00000421911.1_Missense_Mutation_p.R351M|SLC4A10_ENST00000272716.5_Missense_Mutation_p.R321M	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	351					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GCGTTTGTCAGGTTGTCTCCA	0.413																																							uc002ubx.3		NA																	0				ovary(2)|lung(2)|pancreas(1)	5						c.(1051-1053)AGG>ATG		solute carrier family 4, sodium bicarbonate							169.0	170.0	170.0					2																	162735744		1912	4125	6037	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162735744G>T		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1052G>T	2.37:g.162735744G>T	ENSP00000393066:p.Arg351Met					SLC4A10_uc010fpa.1_Missense_Mutation_p.R363M|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.R321M|SLC4A10_uc010zcs.1_Missense_Mutation_p.R332M	p.R351M	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			9	1236	+			351			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.1052G>T	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151934	0.94645	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000535165;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	5.55	5.55	0.83447	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.95465	0.8527	H	0.96748	3.875	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.99;1.0;0.99;0.998	D	0.96682	0.9504	10	0.87932	D	0	.	19.5116	0.95144	0.0:0.0:1.0:0.0	.	332;351;321;351	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	M	332;321;351;321;320;351;351;350	ENSP00000364664:R332M;ENSP00000395797:R321M;ENSP00000437527:R351M;ENSP00000272716:R321M;ENSP00000393066:R351M;ENSP00000404486:R351M	ENSP00000272716:R321M	R	+	2	0	SLC4A10	162443990	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.619000	0.88677	0.655000	0.94253	AGG		0.413	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058		15	66	1	0	1.37285e-15	0.004007	2.58773e-15	15	66				
SCN1A	6323	broad.mit.edu	37	2	166892600	166892600	+	Silent	SNP	C	C	T	rs375953445		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:166892600C>T	ENST00000303395.4	-	16	3386	c.3387G>A	c.(3385-3387)acG>acA	p.T1129T	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.T1118T|SCN1A_ENST00000409050.1_Silent_p.T1101T|SCN1A_ENST00000423058.2_Silent_p.T1129T			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1129					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.T1118T(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TAAAGTCTTCCGTGTTTAAAT	0.348																																							uc010zcz.1		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(6)|skin(6)|large_intestine(1)	13						c.(3352-3354)ACG>ACA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	C	,,,	0,4406		0,0,2203	154.0	158.0	157.0		3387,3303,3387,3354	-2.5	1.0	2		157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	1129/2010,1101/1982,1129/2010,1118/1999	166892600	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166892600C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.3387G>A	2.37:g.166892600C>T						SCN1A_uc002udo.3_Silent_p.T998T|SCN1A_uc010fpk.2_Silent_p.T970T	p.T1118T	NM_006920	NP_008851	P35498	SCN1A_HUMAN			16	3372	-			1129					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Silent	SNP	ENST00000303395.4	37	c.3354G>A	CCDS54413.1																																																																																				0.348	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		20	57	0	0	0	0.010504	0	20	57				
HAT1	8520	broad.mit.edu	37	2	172844191	172844191	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:172844191G>T	ENST00000264108.4	+	10	1043	c.1007G>T	c.(1006-1008)cGa>cTa	p.R336L	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.R251L	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	336					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)			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GAAATTCTTCGACTACTGGTA	0.353																																							uc002uhi.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1006-1008)CGA>CTA		histone acetyltransferase 1							125.0	129.0	128.0					2																	172844191		2203	4300	6503	SO:0001583	missense	8520				chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	g.chr2:172844191G>T	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.1007G>T	2.37:g.172844191G>T	ENSP00000264108:p.Arg336Leu					HAT1_uc010fqi.2_Missense_Mutation_p.R171L|HAT1_uc002uhj.2_Missense_Mutation_p.R251L	p.R336L	NM_003642	NP_003633	O14929	HAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		10	1083	+			336					Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	Missense_Mutation	SNP	ENST00000264108.4	37	c.1007G>T	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	G	32	5.133666	0.94517	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.88	4.99	0.66335	Acyl-CoA N-acyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.54951	0.1890	L	0.45352	1.415	0.80722	D	1	P;D	0.54397	0.955;0.966	B;P	0.45310	0.429;0.476	T	0.61242	-0.7102	9	0.87932	D	0	-21.7258	15.4227	0.75025	0.0677:0.0:0.9323:0.0	.	251;336	O14929-2;O14929	.;HAT1_HUMAN	L	251;336	.	ENSP00000264108:R336L	R	+	2	0	HAT1	172552437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.323000	0.79105	2.789000	0.95967	0.655000	0.94253	CGA		0.353	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1	NM_003642		12	55	1	0	7.03913e-09	0.013537	1.10569e-08	12	55				
SP3	6670	broad.mit.edu	37	2	174820498	174820498	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:174820498C>A	ENST00000310015.6	-	4	1272	c.742G>T	c.(742-744)Ggt>Tgt	p.G248C	SP3_ENST00000418194.2_Missense_Mutation_p.G180C|SP3_ENST00000483084.1_5'Flank|SP3_ENST00000455789.2_Missense_Mutation_p.G195C	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	248					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)		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)			TGGGTTTGACCAGGAAAAGAT	0.458																																							uc002uig.2		NA																EWSR1/SP3(3)	0				soft_tissue(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(742-744)GGT>TGT		Sp3 transcription factor isoform 1							109.0	107.0	108.0					2																	174820498		2203	4300	6503	SO:0001583	missense	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174820498C>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.742G>T	2.37:g.174820498C>A	ENSP00000310301:p.Gly248Cys					SP3_uc002uie.2_Missense_Mutation_p.G180C|SP3_uc002uif.2_Missense_Mutation_p.G195C|SP3_uc010zel.1_Missense_Mutation_p.G245C	p.G248C	NM_003111	NP_003102	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		4	906	-			248					A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	ENST00000310015.6	37	c.742G>T	CCDS2254.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.271902	0.59649	.	.	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194	T;T;T	0.09073	3.18;3.04;3.02	5.95	5.95	0.96441	.	0.093452	0.64402	D	0.000001	T	0.28532	0.0706	L	0.60455	1.87	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.972;0.972;0.977	T	0.00053	-1.2187	10	0.66056	D	0.02	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	245;248;195	B7ZLN9;Q02447;Q02447-6	.;SP3_HUMAN;.	C	248;195;180	ENSP00000310301:G248C;ENSP00000388903:G195C;ENSP00000406140:G180C	ENSP00000310301:G248C	G	-	1	0	SP3	174528744	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.620000	0.54203	2.817000	0.96982	0.563000	0.77884	GGT		0.458	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111		9	58	1	0	0.00621372	0.006214	0.00680738	9	58				
TTN	7273	broad.mit.edu	37	2	179464146	179464146	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:179464146T>G	ENST00000591111.1	-	240	51675	c.51451A>C	c.(51451-51453)Ata>Cta	p.I17151L	TTN_ENST00000359218.5_Missense_Mutation_p.I9852L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I18792L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I9727L|TTN_ENST00000342175.6_Missense_Mutation_p.I9919L|TTN_ENST00000342992.6_Missense_Mutation_p.I16224L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17151	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			TCAAATTTTATGGGTCCCACT	0.363																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(48670-48672)ATA>CTA		titin isoform N2-A							56.0	54.0	55.0					2																	179464146		1833	4082	5915	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179464146T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.51451A>C	2.37:g.179464146T>G	ENSP00000465570:p.Ile17151Leu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I9919L|TTN_uc010zfi.1_Missense_Mutation_p.I9852L|TTN_uc010zfj.1_Missense_Mutation_p.I9727L	p.I16224L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		239	48894	-			17151					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.48670A>C		.	.	.	.	.	.	.	.	.	.	T	12.05	1.822559	0.32237	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.58	5.58	0.84498	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.33818	0.0876	N	0.17922	0.545	0.47374	D	0.999401	B;B;B;B	0.21821	0.031;0.031;0.031;0.061	B;B;B;B	0.27887	0.047;0.047;0.047;0.084	T	0.17198	-1.0377	9	0.87932	D	0	.	15.7484	0.77965	0.0:0.0:0.0:1.0	.	9727;9852;9919;17151	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	16224;9727;9919;9852;9725	ENSP00000343764:I16224L;ENSP00000434586:I9727L;ENSP00000340554:I9919L;ENSP00000352154:I9852L	ENSP00000340554:I9919L	I	-	1	0	TTN	179172391	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	2.752000	0.47516	2.129000	0.65627	0.528000	0.53228	ATA		0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	32	0	0	0	0.010729	0	12	32				
TTN	7273	broad.mit.edu	37	2	179567254	179567254	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:179567254G>C	ENST00000591111.1	-	105	29633	c.29409C>G	c.(29407-29409)agC>agG	p.S9803R	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S10120R|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S8876R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13881	Ig-like 79.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTATTTCTGGCTCTCTGTCA	0.458																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(26626-26628)AGC>AGG		titin isoform N2-A							266.0	263.0	264.0					2																	179567254		1999	4169	6168	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179567254G>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.29409C>G	2.37:g.179567254G>C	ENSP00000465570:p.Ser9803Arg					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S5537R|TTN_uc010fre.1_5'UTR	p.S8876R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		104	26852	-			9803					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.26628C>G		.	.	.	.	.	.	.	.	.	.	G	13.28	2.189754	0.38707	.	.	ENSG00000155657	ENST00000342992	T	0.06142	3.34	5.72	4.74	0.60224	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	0.24122	0.0584	M	0.87381	2.88	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.00605	-1.1648	9	0.87932	D	0	.	6.4636	0.21970	0.2871:0.0:0.7129:0.0	.	9803	Q8WZ42	TITIN_HUMAN	R	8876	ENSP00000343764:S8876R	ENSP00000343764:S8876R	S	-	3	2	TTN	179275499	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.217000	0.42880	2.704000	0.92352	0.655000	0.94253	AGC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	173	0	0	0	0.001168	0	5	173				
COL3A1	1281	broad.mit.edu	37	2	189859478	189859478	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:189859478G>T	ENST00000304636.3	+	20	1546	c.1376G>T	c.(1375-1377)gGa>gTa	p.G459V	COL3A1_ENST00000317840.5_Missense_Mutation_p.G459V	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	459	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGTGTTCCAGGAGCTAAAGGC	0.433																																							uc002uqj.1		NA																	0				central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(1375-1377)GGA>GTA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						65.0	69.0	67.0					2																	189859478		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189859478G>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.1376G>T	2.37:g.189859478G>T	ENSP00000304408:p.Gly459Val						p.G459V	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		20	1493	+			459			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.1376G>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071809	0.76301	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.99637	-6.29;-6.29	6.03	6.03	0.97812	.	0.000000	0.50627	D	0.000102	D	0.99825	0.9922	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97096	0.9794	10	0.87932	D	0	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	459	P02461	CO3A1_HUMAN	V	459	ENSP00000304408:G459V;ENSP00000315243:G459V	ENSP00000304408:G459V	G	+	2	0	COL3A1	189567723	1.000000	0.71417	0.996000	0.52242	0.890000	0.51754	9.810000	0.99221	2.854000	0.98071	0.655000	0.94253	GGA		0.433	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		5	33	1	0	0.00116845	0.001168	0.00134655	5	33				
BOLL	66037	broad.mit.edu	37	2	198643703	198643703	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:198643703T>C	ENST00000392296.4	-	3	526	c.217A>G	c.(217-219)Aaa>Gaa	p.K73E	BOLL_ENST00000282278.8_Silent_p.P7P|BOLL_ENST00000430004.1_Missense_Mutation_p.K73E|BOLL_ENST00000433157.1_Missense_Mutation_p.K73E|BOLL_ENST00000321801.7_Missense_Mutation_p.K85E	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	73	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ACTAACCCTTTGGATACTCCA	0.353																																							uc002uus.2		NA																	0				ovary(2)	2						c.(217-219)AAA>GAA		boule isoform 2							103.0	100.0	101.0					2																	198643703		2202	4299	6501	SO:0001583	missense	66037				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr2:198643703T>C		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.217A>G	2.37:g.198643703T>C	ENSP00000376116:p.Lys73Glu					BOLL_uc002uur.2_Missense_Mutation_p.K79E|BOLL_uc002uut.2_Missense_Mutation_p.K85E|BOLL_uc010zha.1_Silent_p.P7P|BOLL_uc002uuu.1_Missense_Mutation_p.K79E	p.K73E	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN			3	527	-			73			RRM.		B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	ENST00000392296.4	37	c.217A>G	CCDS2325.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.346602	0.82022	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000433157	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.49	5.49	0.81192	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	M	0.86343	2.81	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.75025	-0.3463	10	0.87932	D	0	.	13.801	0.63199	0.0:0.0:0.0:1.0	.	79;85;73;79	Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;BOLL_HUMAN;.	E	73;73;85;73	ENSP00000397711:K73E;ENSP00000376116:K73E;ENSP00000314792:K85E;ENSP00000396099:K73E	ENSP00000314792:K85E	K	-	1	0	BOLL	198351948	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.645000	0.67909	2.089000	0.63090	0.454000	0.30748	AAA		0.353	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3	NM_033030		6	26	0	0	0	0.001984	0	6	26				
PLCL1	5334	broad.mit.edu	37	2	198949235	198949235	+	Missense_Mutation	SNP	G	G	A	rs201389033		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:198949235G>A	ENST00000428675.1	+	2	1392	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	PLCL1_ENST00000437704.2_Missense_Mutation_p.A234T	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	332					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATATTTGGATGCCAATGATCT	0.383																																							uc010fsp.2		NA																	0				ovary(1)|skin(1)	2						c.(994-996)GCC>ACC		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						77.0	76.0	77.0					2																	198949235		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949235G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.994G>A	2.37:g.198949235G>A	ENSP00000402861:p.Ala332Thr					PLCL1_uc002uuv.3_Missense_Mutation_p.A253T	p.A332T	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	1285	+			332					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.994G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	7.568	0.666224	0.14710	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.19105	2.17;2.17	5.94	5.94	0.96194	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.13628	0.0330	N	0.05441	-0.05	0.58432	D	0.999997	B;B	0.20368	0.015;0.044	B;B	0.19946	0.027;0.027	T	0.19976	-1.0289	9	.	.	.	.	20.3632	0.98871	0.0:0.0:1.0:0.0	.	332;258	Q15111;B4DYZ4	PLCL1_HUMAN;.	T	332;234	ENSP00000402861:A332T;ENSP00000414138:A234T	.	A	+	1	0	PLCL1	198657480	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.668000	0.83897	2.826000	0.97356	0.561000	0.74099	GCC		0.383	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		6	52	0	0	0	0.001984	0	6	52				
SATB2	23314	broad.mit.edu	37	2	200298081	200298081	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:200298081C>G	ENST00000417098.1	-	3	1142	c.326G>C	c.(325-327)aGc>aCc	p.S109T	SATB2_ENST00000428695.1_Missense_Mutation_p.S109T|SATB2_ENST00000457245.1_Missense_Mutation_p.S109T|SATB2_ENST00000443023.1_Intron|SATB2_ENST00000260926.5_Missense_Mutation_p.S109T	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	109					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGCCGCAGAGCTGTGAGAATA	0.507																																					Colon(30;262 767 11040 24421 36230)	Colon(30;262 767 11040 24421 36230)	uc002uuy.1		NA																	0				ovary(1)	1						c.(325-327)AGC>ACC		SATB homeobox 2							71.0	72.0	72.0					2																	200298081		2203	4300	6503	SO:0001583	missense	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200298081C>G	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.326G>C	2.37:g.200298081C>G	ENSP00000401112:p.Ser109Thr					SATB2_uc010fsq.1_Missense_Mutation_p.S109T|SATB2_uc002uuz.1_Missense_Mutation_p.S109T|SATB2_uc002uva.1_Missense_Mutation_p.S109T	p.S109T	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			3	1143	-			109					A8K5Z8|Q3ZB87|Q4V763	Missense_Mutation	SNP	ENST00000417098.1	37	c.326G>C	CCDS2327.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638319	0.47153	.	.	ENSG00000119042	ENST00000417098;ENST00000260926;ENST00000428695;ENST00000457245	T;T;T;T	0.77877	-1.13;-1.13;0.84;-1.13	5.85	5.85	0.93711	.	0.050871	0.85682	D	0.000000	T	0.67287	0.2877	N	0.24115	0.695	0.41943	D	0.990627	B;B	0.33964	0.02;0.434	B;B	0.34093	0.006;0.175	T	0.67688	-0.5606	10	0.41790	T	0.15	-15.2478	15.6213	0.76808	0.0:0.8632:0.1368:0.0	.	109;109	Q3ZB87;Q9UPW6	.;SATB2_HUMAN	T	109	ENSP00000401112:S109T;ENSP00000260926:S109T;ENSP00000388581:S109T;ENSP00000405420:S109T	ENSP00000260926:S109T	S	-	2	0	SATB2	200006326	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	4.903000	0.63272	2.772000	0.95346	0.650000	0.86243	AGC		0.507	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		9	28	0	0	0	0.004482	0	9	28				
ALS2CR11	151254	broad.mit.edu	37	2	202446879	202446879	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:202446879T>C	ENST00000286195.3	-	5	622	c.578A>G	c.(577-579)aAt>aGt	p.N193S	ALS2CR11_ENST00000439802.1_Missense_Mutation_p.N193S|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.N193S|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.N193S	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	193										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TTTTTCTCTATTGTCATATTG	0.299																																							uc002uye.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(577-579)AAT>AGT		amyotrophic lateral sclerosis 2 (juvenile)							119.0	115.0	116.0					2																	202446879		2203	4299	6502	SO:0001583	missense	151254							g.chr2:202446879T>C	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.578A>G	2.37:g.202446879T>C	ENSP00000286195:p.Asn193Ser					ALS2CR11_uc002uyf.2_Missense_Mutation_p.N193S|ALS2CR11_uc010fti.2_Missense_Mutation_p.N193S	p.N193S	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN			5	626	-			193					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	c.578A>G	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	T	14.92	2.679955	0.47886	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.02	-3.57	0.04612	.	2.080360	0.01750	N	0.029865	T	0.31263	0.0791	L	0.54323	1.7	0.09310	N	1	B;B;B	0.32968	0.003;0.302;0.392	B;B;B	0.31016	0.009;0.079;0.123	T	0.16041	-1.0416	10	0.22109	T	0.4	.	8.2462	0.31691	0.0:0.5214:0.1445:0.334	.	193;193;193	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	S	193	ENSP00000286195:N193S;ENSP00000400672:N193S;ENSP00000409937:N193S;ENSP00000399016:N193S	ENSP00000286195:N193S	N	-	2	0	ALS2CR11	202155124	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.380000	0.02551	-0.693000	0.05121	-0.415000	0.06103	AAT		0.299	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		7	65	0	0	0	0.00308	0	7	65				
MDH1B	130752	broad.mit.edu	37	2	207619827	207619827	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:207619827G>A	ENST00000374412.3	-	5	1091	c.816C>T	c.(814-816)gcC>gcT	p.A272A	MDH1B_ENST00000449792.1_Silent_p.A174A|MDH1B_ENST00000454776.2_Silent_p.A272A|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	272					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAATGCGTGGGGCATATCTCA	0.478																																					Pancreas(76;29 1355 28675 37177 51207)	Pancreas(76;29 1355 28675 37177 51207)	uc002vbs.2		NA																	0				ovary(3)|kidney(1)	4						c.(814-816)GCC>GCT		malate dehydrogenase 1B, NAD (soluble)							126.0	112.0	117.0					2																	207619827		2203	4300	6503	SO:0001819	synonymous_variant	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207619827G>A		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.816C>T	2.37:g.207619827G>A						MDH1B_uc010ziw.1_Intron|MDH1B_uc010fui.2_Silent_p.A272A|MDH1B_uc010fuj.2_Silent_p.A174A|MDH1B_uc002vbt.2_Intron	p.A272A	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	5	871	-			272					A8K8M1|Q53TK9|Q8IV51	Silent	SNP	ENST00000374412.3	37	c.816C>T	CCDS33365.1																																																																																				0.478	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		15	48	0	0	0	0.00499	0	15	48				
MAP2	4133	broad.mit.edu	37	2	210559692	210559692	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:210559692A>G	ENST00000360351.4	+	7	3304	c.2798A>G	c.(2797-2799)aAa>aGa	p.K933R	MAP2_ENST00000447185.1_Missense_Mutation_p.K929R|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	933					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGTGTTGACAAAGAAGCATCC	0.428																																					Pancreas(27;423 979 28787 29963)	Pancreas(27;423 979 28787 29963)	uc002vde.1		NA																	0				ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17						c.(2797-2799)AAA>AGA		microtubule-associated protein 2 isoform 1	Estramustine(DB01196)						83.0	87.0	86.0					2																	210559692		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559692A>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2798A>G	2.37:g.210559692A>G	ENSP00000353508:p.Lys933Arg					MAP2_uc002vdc.1_Missense_Mutation_p.K933R|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.K929R	p.K933R	NM_002374	NP_002365	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3046	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	933					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2798A>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.943926	0.34283	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.24538	1.85;1.85	5.9	4.56	0.56223	MAP2/Tau projection (1);	0.187600	0.37906	N	0.001900	T	0.22551	0.0544	L	0.50333	1.59	0.28243	N	0.925595	B;B	0.15141	0.01;0.012	B;B	0.14578	0.006;0.011	T	0.12016	-1.0564	10	0.62326	D	0.03	-23.2577	7.6733	0.28471	0.7798:0.0:0.2202:0.0	.	929;933	P11137-3;P11137	.;MAP2_HUMAN	R	933;929	ENSP00000353508:K933R;ENSP00000392164:K929R	ENSP00000353508:K933R	K	+	2	0	MAP2	210267937	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	2.846000	0.48262	2.266000	0.75297	0.528000	0.53228	AAA		0.428	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		5	36	0	0	0	0.001168	0	5	36				
ERBB4	2066	broad.mit.edu	37	2	212530125	212530125	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:212530125C>T	ENST00000342788.4	-	15	2104	c.1794G>A	c.(1792-1794)caG>caA	p.Q598Q	ERBB4_ENST00000436443.1_Silent_p.Q598Q|ERBB4_ENST00000402597.1_Silent_p.Q598Q	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	598	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TGTTTGCCCCCTGTAAGCCAT	0.458										TSP Lung(8;0.080)																													uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(1792-1794)CAG>CAA		v-erb-a erythroblastic leukemia viral oncogene							146.0	130.0	136.0					2																	212530125		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212530125C>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1794G>A	2.37:g.212530125C>T		TSP Lung(8;0.080)				ERBB4_uc002veh.1_Silent_p.Q598Q|ERBB4_uc010zji.1_Silent_p.Q598Q|ERBB4_uc010zjj.1_Silent_p.Q598Q|ERBB4_uc010fut.1_Silent_p.Q598Q	p.Q598Q	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	15	1892	-		Renal(323;0.06)|Lung NSC(271;0.197)	598			Extracellular (Potential).|Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.1794G>A	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	9.018	0.984194	0.18889	.	.	ENSG00000178568	ENST00000260943	.	.	.	5.56	3.7	0.42460	.	.	.	.	.	T	0.57666	0.2069	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51949	-0.8640	4	.	.	.	.	7.8304	0.29338	0.0:0.6722:0.0:0.3278	.	.	.	.	K	598	.	.	R	-	2	0	ERBB4	212238370	0.855000	0.29742	1.000000	0.80357	0.999000	0.98932	0.031000	0.13710	0.666000	0.31087	0.655000	0.94253	AGG		0.458	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		10	35	0	0	0	0.006214	0	10	35				
ABCA12	26154	broad.mit.edu	37	2	215901724	215901724	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:215901724T>A	ENST00000272895.7	-	8	1157	c.938A>T	c.(937-939)cAg>cTg	p.Q313L	AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	313					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AACAGACTTCTGGAGGGTTCT	0.418																																					Ovarian(66;664 1488 5121 34295)	Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(937-939)CAG>CTG		ATP-binding cassette, sub-family A, member 12							107.0	108.0	108.0					2																	215901724		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215901724T>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.938A>T	2.37:g.215901724T>A	ENSP00000272895:p.Gln313Leu					ABCA12_uc010zjn.1_5'UTR	p.Q313L	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	8	1158	-		Renal(323;0.127)	313					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.938A>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	16.74	3.207335	0.58343	.	.	ENSG00000144452	ENST00000272895	T	0.52754	0.65	5.43	5.43	0.79202	.	0.746692	0.12355	N	0.476185	T	0.36717	0.0977	L	0.27053	0.805	0.80722	D	1	B	0.27559	0.181	B	0.20767	0.031	T	0.21415	-1.0246	10	0.66056	D	0.02	.	12.1504	0.54046	0.0:0.0:0.0:1.0	.	313	Q86UK0	ABCAC_HUMAN	L	313	ENSP00000272895:Q313L	ENSP00000272895:Q313L	Q	-	2	0	ABCA12	215609969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.426000	0.44731	2.180000	0.69256	0.533000	0.62120	CAG		0.418	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		19	64	0	0	0	0.008871	0	19	64				
MOGAT1	116255	broad.mit.edu	37	2	223574461	223574461	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:223574461G>T	ENST00000446656.3	+	6	860	c.860G>T	c.(859-861)cGc>cTc	p.R287L		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	287					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GCAGTTGGCCGCCCGATCCCT	0.502																																					Ovarian(93;205 1446 2385 11581 25911)	Ovarian(93;205 1446 2385 11581 25911)	uc010fws.1		NA																	0				breast(1)	1						c.(859-861)CGC>CTC		monoacylglycerol O-acyltransferase 1							154.0	159.0	158.0					2																	223574461		1965	4141	6106	SO:0001583	missense	116255				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr2:223574461G>T	AF384163	CCDS46524.1	2q36.2	2006-10-06	2004-05-28	2004-05-28	ENSG00000124003	ENSG00000124003			18210	protein-coding gene	gene with protein product		610268	"""diacylglycerol O-acyltransferase 2 like 1"""	DGAT2L1		14970677	Standard	NM_058165		Approved	DGAT2L, MGAT1	uc010fws.1	Q96PD6	OTTHUMG00000153394	ENST00000446656.3:c.860G>T	2.37:g.223574461G>T	ENSP00000406674:p.Arg287Leu					MOGAT1_uc010fwt.1_Missense_Mutation_p.R247L	p.R287L	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)	6	908	+		Renal(207;0.0183)	287					Q6IEE5	Missense_Mutation	SNP	ENST00000446656.3	37	c.860G>T	CCDS46524.1	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099592	0.37048	.	.	ENSG00000124003	ENST00000446656	D	0.93426	-3.22	5.43	2.25	0.28309	.	0.332568	0.29579	N	0.011750	D	0.92734	0.7690	M	0.90705	3.14	0.52501	D	0.99995	B	0.23735	0.09	B	0.30179	0.112	D	0.88749	0.3249	10	0.49607	T	0.09	-2.2016	4.0426	0.09758	0.2321:0.1914:0.5766:0.0	.	287	Q96PD6	MOGT1_HUMAN	L	287	ENSP00000406674:R287L	ENSP00000406674:R287L	R	+	2	0	MOGAT1	223282705	0.990000	0.36364	0.997000	0.53966	0.405000	0.30901	1.193000	0.32162	0.748000	0.32831	0.650000	0.86243	CGC		0.502	MOGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331010.3	NM_058165		22	110	1	0	4.72057e-08	0.003954	7.21723e-08	22	110				
UGT1A6	54578	broad.mit.edu	37	2	234602454	234602454	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:234602454G>T	ENST00000305139.6	+	1	943	c.804G>T	c.(802-804)atG>atT	p.M268I	UGT1A6_ENST00000480628.1_3'UTR|UGT1A6_ENST00000406651.1_Start_Codon_SNP_p.M1I|UGT1A7_ENST00000373426.3_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Start_Codon_SNP_p.M1I|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	268					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GGCCGGTCATGCCCAACATGG	0.428																																							uc002vuv.3		NA																	0					0						c.(802-804)ATG>ATT		UDP glycosyltransferase 1 family, polypeptide A6							368.0	384.0	379.0					2																	234602454		2203	4300	6503	SO:0001583	missense	54578				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr2:234602454G>T	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.804G>T	2.37:g.234602454G>T	ENSP00000303174:p.Met268Ile					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Missense_Mutation_p.M1I|UGT1A6_uc010zmy.1_Missense_Mutation_p.M268I	p.M268I	NM_001072	NP_001063	P19224	UD16_HUMAN		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	1	943	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	268					A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	c.804G>T	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155562	0.78114	.	.	ENSG00000167165	ENST00000373424;ENST00000305139;ENST00000406651	T;T;T	0.60040	0.22;0.22;0.22	5.11	5.11	0.69529	.	.	.	.	.	T	0.77485	0.4137	M	0.86573	2.825	0.25102	N	0.990779	P;P	0.47545	0.826;0.897	P;P	0.55871	0.45;0.786	T	0.71886	-0.4457	9	0.72032	D;D	0.01;0.01	.	18.7307	0.91734	0.0:0.0:1.0:0.0	.	268;268	B8K289;P19224	.;UD16_HUMAN	I	1;268;1	ENSP00000362523:M1I;ENSP00000303174:M268I;ENSP00000386107:M1I	ENSP00000303174:M268I;ENSP00000303174:M268I	M	+	3	0	UGT1A6	234267193	1.000000	0.71417	0.999000	0.59377	0.885000	0.51271	9.552000	0.98115	2.648000	0.89879	0.655000	0.94253	ATG		0.428	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862		62	173	1	0	2.89935e-36	0.01441	5.84972e-36	62	173				
UGT1A5	54579	broad.mit.edu	37	2	234622111	234622111	+	Silent	SNP	G	G	T	rs147117995	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:234622111G>T	ENST00000373414.3	+	1	474	c.474G>T	c.(472-474)gcG>gcT	p.A158A	UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608381.1_Silent_p.A158A			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	158			A -> G (in dbSNP:rs12475068).			endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.A158A(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		ACCTCTGCGCGGCGGTGCTGG	0.493																																							uc002vuw.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(472-474)GCG>GCT		UDP glycosyltransferase 1 family, polypeptide A5							188.0	184.0	186.0					2																	234622111		2203	4300	6503	SO:0001819	synonymous_variant	54579				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr2:234622111G>T	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.474G>T	2.37:g.234622111G>T						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Silent_p.A158A	p.A158A	NM_019078	NP_061951	P35504	UD15_HUMAN		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	1	474	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	158					B8K294	Silent	SNP	ENST00000373414.3	37	c.474G>T	CCDS33404.1																																																																																				0.493	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		30	89	1	0	1.68575e-08	0.007291	2.62993e-08	30	89				
PRR21	643905	broad.mit.edu	37	2	240982120	240982120	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:240982120G>T	ENST00000408934.1	-	1	279	c.280C>A	c.(280-282)Cca>Aca	p.P94T		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	94	Pro-rich.							p.S86fs*291(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AAGGGCCGTGGGTGAAGAGGC	0.612																																							uc010zod.1		NA																	2	Deletion - Frameshift(2)		upper_aerodigestive_tract(2)	ovary(1)|skin(1)	2						c.(280-282)CCA>ACA		proline rich 21							117.0	113.0	114.0					2																	240982120		2098	4183	6281	SO:0001583	missense	643905							g.chr2:240982120G>T	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.280C>A	2.37:g.240982120G>T	ENSP00000386166:p.Pro94Thr						p.P94T	NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN			1	280	-			94			Pro-rich.			Missense_Mutation	SNP	ENST00000408934.1	37	c.280C>A	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	-	11.56	1.673954	0.29693	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.13196	2.61;2.61	1.7	1.7	0.24286	.	.	.	.	.	T	0.12347	0.0300	N	0.08118	0	0.09310	N	1	D	0.56035	0.974	P	0.56514	0.8	T	0.29458	-1.0011	9	0.33141	T	0.24	.	9.3277	0.38003	0.0:0.0:1.0:0.0	.	94	Q8WXC7	PRR21_HUMAN	T	94	ENSP00000386166:P94T;ENSP00000418240:P94T	ENSP00000386166:P94T	P	-	1	0	PRR21	240630793	0.004000	0.15560	0.001000	0.08648	0.001000	0.01503	1.140000	0.31516	1.227000	0.43598	0.430000	0.28490	CCA		0.612	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		18	24	1	0	3.99206e-14	0.007413	7.36337e-14	18	24				
THAP4	51078	broad.mit.edu	37	2	242572835	242572835	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr2:242572835C>T	ENST00000407315.1	-	2	1168	c.737G>A	c.(736-738)cGa>cAa	p.R246Q		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	246							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TGGCCTTTCTCGGGTGTGCTT	0.547																																							uc002wbt.2		NA																	0					0						c.(736-738)CGA>CAA		THAP domain containing 4 isoform 1							67.0	76.0	73.0					2																	242572835		2203	4296	6499	SO:0001583	missense	51078						DNA binding|metal ion binding	g.chr2:242572835C>T	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.737G>A	2.37:g.242572835C>T	ENSP00000385006:p.Arg246Gln						p.R246Q	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	960	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	246					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	c.737G>A	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144104	0.57044	.	.	ENSG00000176946	ENST00000407315	D	0.97831	-4.56	5.09	5.09	0.68999	.	0.347595	0.20533	N	0.090469	D	0.97666	0.9235	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.98498	1.0613	10	0.62326	D	0.03	-15.4019	16.6758	0.85278	0.0:1.0:0.0:0.0	.	246	Q8WY91	THAP4_HUMAN	Q	246	ENSP00000385006:R246Q	ENSP00000385006:R246Q	R	-	2	0	THAP4	242221508	0.170000	0.23016	0.016000	0.15963	0.235000	0.25334	4.464000	0.60134	2.553000	0.86117	0.655000	0.94253	CGA		0.547	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		4	92	0	0	0	0.009096	0	4	92				
SNRPB	6628	broad.mit.edu	37	20	2442427	2442427	+	Missense_Mutation	SNP	G	G	A	rs558249175	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:2442427G>A	ENST00000438552.2	-	7	860	c.698C>T	c.(697-699)cCg>cTg	p.P233L	SNRPB_ENST00000381342.2_3'UTR|SNORD119_ENST00000515997.1_RNA	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	233	Repeat-rich region.				gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						GCGCATTCCCGGGGGAGGGGG	0.552													G|||	2	0.000399361	0.0	0.0	5008	,	,		14812	0.0		0.0	False		,,,				2504	0.002						uc002wfz.1		NA																	0				ovary(1)	1						c.(697-699)CCG>CTG		small nuclear ribonucleoprotein polypeptide B/B'							49.0	53.0	51.0					20																	2442427		2203	4300	6503	SO:0001583	missense	6628				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|protein binding|RNA binding	g.chr20:2442427G>A		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.698C>T	20.37:g.2442427G>A	ENSP00000412566:p.Pro233Leu					SNRPB_uc002wga.1_3'UTR|SNRPB_uc010zpv.1_3'UTR|SNRPB_uc002wgb.2_3'UTR	p.P233L	NM_198216	NP_937859	P14678	RSMB_HUMAN			7	861	-			233			Repeat-rich region.|		Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	c.698C>T	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262533	0.23051	.	.	ENSG00000125835	ENST00000438552;ENST00000303103	T	0.52295	0.67	4.69	3.71	0.42584	.	0.105180	0.64402	D	0.000003	T	0.59555	0.2202	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.63283	0.913	T	0.63651	-0.6589	10	0.87932	D	0	.	12.5331	0.56126	0.0:0.1765:0.8235:0.0	.	233	P14678	RSMB_HUMAN	L	233;281	ENSP00000412566:P233L	ENSP00000303591:P281L	P	-	2	0	SNRPB	2390427	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.489000	0.53237	1.296000	0.44742	0.655000	0.94253	CCG		0.552	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			4	61	0	0	0	0.001984	0	4	61				
SIGLEC1	6614	broad.mit.edu	37	20	3682161	3682161	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:3682161C>A	ENST00000344754.4	-	6	1355	c.1356G>T	c.(1354-1356)ctG>ctT	p.L452L	SIGLEC1_ENST00000202578.4_Silent_p.L452L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	452	Ig-like C2-type 4.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGGTGGAGGCCAGGATATGAC	0.617																																							uc002wja.2		NA																	0				pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(1354-1356)CTG>CTT		sialoadhesin precursor							91.0	71.0	78.0					20																	3682161		2203	4300	6503	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3682161C>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1356G>T	20.37:g.3682161C>A						SIGLEC1_uc002wiz.3_Silent_p.L452L	p.L452L	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			6	1356	-			452			Ig-like C2-type 4.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.1356G>T	CCDS13060.1																																																																																				0.617	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		10	38	1	0	0.000151284	0.001855	0.000188216	10	38				
ANKEF1	63926	broad.mit.edu	37	20	10036234	10036234	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:10036234G>A	ENST00000378380.3	+	10	2586	c.2257G>A	c.(2257-2259)Gac>Aac	p.D753N	AL109754.1_ENST00000408554.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.D753N	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	753							calcium ion binding (GO:0005509)										GGTGGACTTCGACGATTTTAT	0.438																																							uc002wno.2		NA																	0				ovary(1)|breast(1)	2						c.(2257-2259)GAC>AAC		ankyrin repeat domain protein 5							107.0	99.0	102.0					20																	10036234		2203	4300	6503	SO:0001583	missense	63926						calcium ion binding	g.chr20:10036234G>A	AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.2257G>A	20.37:g.10036234G>A	ENSP00000367631:p.Asp753Asn					uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.D753N|ANKRD5_uc010gbz.2_Missense_Mutation_p.D564N	p.D753N	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN			11	2650	+			753					B3KUQ0|Q9H6Y9	Missense_Mutation	SNP	ENST00000378380.3	37	c.2257G>A	CCDS13108.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561247	0.65538	.	.	ENSG00000132623	ENST00000378392;ENST00000378380	T;T	0.71222	-0.55;-0.55	5.64	5.64	0.86602	.	0.597684	0.18706	N	0.133425	T	0.66137	0.2759	L	0.39898	1.24	0.45822	D	0.998698	P	0.51240	0.943	B	0.40825	0.341	T	0.69120	-0.5229	10	0.48119	T	0.1	-8.9292	19.7013	0.96054	0.0:0.0:1.0:0.0	.	753	Q9NU02	ANKR5_HUMAN	N	753	ENSP00000367644:D753N;ENSP00000367631:D753N	ENSP00000367631:D753N	D	+	1	0	ANKRD5	9984234	1.000000	0.71417	0.987000	0.45799	0.387000	0.30353	8.818000	0.91991	2.657000	0.90304	0.655000	0.94253	GAC		0.438	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		14	38	0	0	0	0.001855	0	14	38				
PCSK2	5126	broad.mit.edu	37	20	17434598	17434598	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:17434598G>T	ENST00000262545.2	+	9	1412	c.1097G>T	c.(1096-1098)gGt>gTt	p.G366V	PCSK2_ENST00000377899.1_Missense_Mutation_p.G347V|PCSK2_ENST00000536609.1_Missense_Mutation_p.G331V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	366	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)			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)"""	CCCGAGGCCGGTGTGGTGAGC	0.612																																							uc002wpm.2		NA																	0				ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(1096-1098)GGT>GTT		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						74.0	64.0	67.0					20																	17434598		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17434598G>T	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.1097G>T	20.37:g.17434598G>T	ENSP00000262545:p.Gly366Val					PCSK2_uc002wpl.2_Missense_Mutation_p.G347V|PCSK2_uc010zrm.1_Missense_Mutation_p.G331V	p.G366V	NM_002594	NP_002585	P16519	NEC2_HUMAN			9	1417	+			366			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1097G>T	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299413	0.60195	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.87966	-2.32;-2.32;-2.32	5.69	4.73	0.59995	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.94873	0.8343	M	0.92219	3.285	0.80722	D	1	D;B	0.89917	1.0;0.417	D;B	0.97110	1.0;0.345	D	0.95963	0.8963	10	0.87932	D	0	-27.7998	15.3345	0.74241	0.0:0.1404:0.8595:0.0	.	331;366	B4DFQ3;P16519	.;NEC2_HUMAN	V	347;366;331	ENSP00000367131:G347V;ENSP00000262545:G366V;ENSP00000437458:G331V	ENSP00000262545:G366V	G	+	2	0	PCSK2	17382598	1.000000	0.71417	0.470000	0.27216	0.305000	0.27757	9.817000	0.99352	1.389000	0.46526	0.655000	0.94253	GGT		0.612	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		13	26	1	0	4.3838e-07	0.001855	6.43082e-07	13	26				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																							uc010ztl.1		NA																	4	Substitution - Missense(4)		prostate(2)|kidney(2)		0						c.(175-177)ATT>GTT		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.I11V	p.I59V							3	207	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.175A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	56	0	0	0	0.004482	0	5	56				
TPX2	22974	broad.mit.edu	37	20	30381818	30381818	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:30381818G>T	ENST00000300403.6	+	14	2205	c.1677G>T	c.(1675-1677)caG>caT	p.Q559H	TPX2_ENST00000340513.4_Missense_Mutation_p.Q595H	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	559					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AAGAACTGCAGAAAGGGGAGG	0.378																																							uc002wwp.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1675-1677)CAG>CAT		TPX2, microtubule-associated protein homolog							94.0	94.0	94.0					20																	30381818		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30381818G>T	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1677G>T	20.37:g.30381818G>T	ENSP00000300403:p.Gln559His					TPX2_uc010gdv.1_Missense_Mutation_p.Q595H	p.Q559H	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		14	2375	+			559					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.1677G>T	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.377097	0.61735	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.32988	1.43	5.82	2.59	0.31030	.	0.138572	0.46145	D	0.000301	T	0.38746	0.1052	L	0.44542	1.39	0.37159	D	0.902504	D;D	0.71674	0.996;0.998	P;D	0.64237	0.896;0.923	T	0.38929	-0.9638	10	0.51188	T	0.08	-17.6547	7.249	0.26138	0.1473:0.2449:0.6079:0.0	.	595;559	Q96RR5;Q9ULW0	.;TPX2_HUMAN	H	559;595	ENSP00000341145:Q595H	ENSP00000300403:Q559H	Q	+	3	2	TPX2	29845479	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.202000	0.32271	1.458000	0.47871	0.655000	0.94253	CAG		0.378	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			11	46	1	0	6.40141e-05	0.010729	8.171e-05	11	46				
SLC32A1	140679	broad.mit.edu	37	20	37357131	37357131	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:37357131T>C	ENST00000217420.1	+	2	1690	c.1427T>C	c.(1426-1428)tTt>tCt	p.F476S		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	476					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CCCAGCCTCTTTCACCTGCGC	0.637																																							uc002xjc.2		NA																	0					0						c.(1426-1428)TTT>TCT		solute carrier family 32, member 1	Glycine(DB00145)						29.0	31.0	30.0					20																	37357131		2201	4297	6498	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37357131T>C	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1427T>C	20.37:g.37357131T>C	ENSP00000217420:p.Phe476Ser						p.F476S	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			2	1690	+		Myeloproliferative disorder(115;0.00878)	476			Helical; (Potential).		Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.1427T>C	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083383	0.76642	.	.	ENSG00000101438	ENST00000217420	T	0.03004	4.08	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.16811	0.0404	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00182	-1.1946	10	0.62326	D	0.03	-24.0062	12.8434	0.57815	0.0:0.0:0.0:1.0	.	476	Q9H598	VIAAT_HUMAN	S	476	ENSP00000217420:F476S	ENSP00000217420:F476S	F	+	2	0	SLC32A1	36790545	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.940000	0.87693	1.987000	0.57996	0.533000	0.62120	TTT		0.637	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		5	36	0	0	0	0.000602	0	5	36				
ZFP64	55734	broad.mit.edu	37	20	50713933	50713933	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:50713933G>A	ENST00000361387.2	-	7	1015	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371518.2_Missense_Mutation_p.R319C|ZFP64_ENST00000371523.4_Missense_Mutation_p.R100C	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGAGATGGCGGTCCAAGTCT	0.408																																							uc002xwk.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(955-957)CGC>TGC		zinc finger protein 64 isoform d							267.0	266.0	267.0					20																	50713933		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50713933G>A	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.955C>T	20.37:g.50713933G>A	ENSP00000355179:p.Arg319Cys					ZFP64_uc002xwj.2_Missense_Mutation_p.R100C	p.R319C	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN			7	1304	-			276			C2H2-type 4.		Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000361387.2	37	c.955C>T	CCDS13439.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.78|15.78	2.933787|2.933787	0.52866|0.52866	.|.	.|.	ENSG00000020256|ENSG00000020256	ENST00000456175|ENST00000371518;ENST00000371523;ENST00000361387;ENST00000395989;ENST00000395979	.|T;T;T;T;T	.|0.40476	.|1.72;1.72;1.72;1.72;1.03	4.55|4.55	4.55|4.55	0.56014|0.56014	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	T|T	0.69486|0.69486	0.3116|0.3116	M|M	0.87456|0.87456	2.885|2.885	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.996	.|D;P	.|0.85130	.|0.997;0.819	T|T	0.74937|0.74937	-0.3494|-0.3494	5|9	.|0.54805	.|T	.|0.06	.|.	17.5308|17.5308	0.87814|0.87814	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|319;100	.|Q9NTW7;Q9NTW7-2	.|ZF64B_HUMAN;.	L|C	24|319;100;319;122;122	.|ENSP00000360573:R319C;ENSP00000360578:R100C;ENSP00000355179:R319C;ENSP00000379312:R122C;ENSP00000379303:R122C	.|ENSP00000355179:R319C	P|R	-|-	2|1	0|0	ZFP64|ZFP64	50147340|50147340	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.363000|0.363000	0.29612|0.29612	3.588000|3.588000	0.53964|0.53964	2.529000|2.529000	0.85273|0.85273	0.650000|0.650000	0.86243|0.86243	CCG|CGC		0.408	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197		42	166	0	0	0	0.011902	0	42	166				
TSHZ2	128553	broad.mit.edu	37	20	51871008	51871008	+	Silent	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:51871008A>T	ENST00000371497.5	+	2	1898	c.1011A>T	c.(1009-1011)acA>acT	p.T337T	TSHZ2_ENST00000603338.2_Silent_p.T334T|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Silent_p.T334T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	337					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ATTCAACCACAGGATCTTTTG	0.498																																							uc002xwo.2		NA																	0				ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(1009-1011)ACA>ACT		teashirt zinc finger homeobox 2							81.0	90.0	87.0					20																	51871008		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51871008A>T	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.1011A>T	20.37:g.51871008A>T							p.T337T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1967	+			337					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.1011A>T	CCDS33490.1																																																																																				0.498	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		15	80	0	0	0	0.00499	0	15	80				
TSHZ2	128553	broad.mit.edu	37	20	51872426	51872426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:51872426C>A	ENST00000371497.5	+	2	3316	c.2429C>A	c.(2428-2430)cCa>cAa	p.P810Q	TSHZ2_ENST00000603338.2_Missense_Mutation_p.P807Q|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.P807Q	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	810					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACCCCAAAGCCAGCCTCCTCC	0.542																																							uc002xwo.2		NA																	0				ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(2428-2430)CCA>CAA		teashirt zinc finger homeobox 2							88.0	82.0	84.0					20																	51872426		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.chr20:51872426C>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.2429C>A	20.37:g.51872426C>A	ENSP00000360552:p.Pro810Gln						p.P810Q	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3385	+			810					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.2429C>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086808	0.55861	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.14022	2.54;2.54	5.18	5.18	0.71444	.	0.112824	0.64402	D	0.000009	T	0.22475	0.0542	M	0.62723	1.935	0.58432	D	0.999999	P	0.50272	0.933	P	0.48030	0.564	T	0.00710	-1.1599	10	0.62326	D	0.03	-8.6329	13.6462	0.62283	0.1548:0.8452:0.0:0.0	.	810	Q9NRE2	TSH2_HUMAN	Q	810;807;336	ENSP00000360552:P810Q;ENSP00000333114:P807Q	ENSP00000333114:P807Q	P	+	2	0	TSHZ2	51305833	0.996000	0.38824	0.984000	0.44739	0.793000	0.44817	4.531000	0.60602	2.397000	0.81536	0.643000	0.83706	CCA		0.542	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		6	62	1	0	0.00116845	0.001168	0.00134655	6	62				
FAM209B	388799	broad.mit.edu	37	20	55111388	55111389	+	Missense_Mutation	DNP	TG	TG	AT			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:55111388_55111389TG>AT	ENST00000371325.1	+	2	506_507	c.410_411TG>AT	c.(409-411)aTG>aAT	p.M137N		NM_001013646.2	NP_001013668.2	Q5JX69	F209B_HUMAN	family with sequence similarity 209, member B	137						integral component of membrane (GO:0016021)|nucleus (GO:0005634)											AAAGGTGCCATGGCAACAGGCA	0.421																																							uc010zzh.1		NA																	0					0						c.(409-411)ATG>AAT		hypothetical protein LOC388799 precursor																																				SO:0001583	missense	388799					integral to membrane		g.chr20:55111388_55111389TG>AT	AL109806	CCDS33494.1	20q13.31	2011-11-24	2011-11-24	2011-11-24	ENSG00000213714	ENSG00000213714			16101	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 107"""	C20orf107			Standard	NM_001013646		Approved	dJ1153D9.4	uc002xxz.4	Q5JX69	OTTHUMG00000032800	Exception_encountered	20.37:g.55111388_55111389delinsAT	ENSP00000360376:p.Met137Asn					C20orf107_uc002xxz.2_Missense_Mutation_p.M137N	p.M137N	NM_001013646	NP_001013668	Q5JX69	CT107_HUMAN	Colorectal(105;0.202)		2	490_491	+			137			Cytoplasmic (Potential).		Q3KRB5	Missense_Mutation	DNP	ENST00000371325.1	37	c.410_411TG>AT	CCDS33494.1																																																																																				0.421	FAM209B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079816.1			10	40	0	0	0	0.004672	0	10	40				
PCK1	5105	broad.mit.edu	37	20	56140750	56140750	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:56140750A>T	ENST00000319441.4	+	10	1923	c.1759A>T	c.(1759-1761)Aag>Tag	p.K587*	PCK1_ENST00000543666.1_Nonsense_Mutation_p.K270*	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	587					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATTCTGGGAGAAGGAGGTGGA	0.507																																							uc002xyn.3		NA																	0				skin(1)	1						c.(1759-1761)AAG>TAG		cytosolic phosphoenolpyruvate carboxykinase 1							67.0	65.0	66.0					20																	56140750		2203	4300	6503	SO:0001587	stop_gained	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56140750A>T		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.1759A>T	20.37:g.56140750A>T	ENSP00000319814:p.Lys587*					PCK1_uc010zzm.1_Nonsense_Mutation_p.K270*	p.K587*	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		10	1922	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		587					A8K437|B4DT64|Q8TCA3|Q9UJD2	Nonsense_Mutation	SNP	ENST00000319441.4	37	c.1759A>T	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	A	37	6.048373	0.97236	.	.	ENSG00000124253	ENST00000540165;ENST00000319441;ENST00000543666	.	.	.	5.79	-7.92	0.01160	.	0.593963	0.21115	N	0.079911	.	.	.	.	.	.	0.53005	D	0.999969	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-14.1019	13.0532	0.58966	0.4295:0.0845:0.486:0.0	.	.	.	.	X	269;587;270	.	ENSP00000319814:K587X	K	+	1	0	PCK1	55574156	0.485000	0.25972	0.457000	0.27056	0.939000	0.58152	-0.026000	0.12392	-2.226000	0.00723	-2.096000	0.00365	AAG		0.507	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2			7	20	0	0	0	0.00308	0	7	20				
CHRNA4	1137	broad.mit.edu	37	20	61990903	61990903	+	Missense_Mutation	SNP	G	G	T	rs113080067		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:61990903G>T	ENST00000370263.4	-	2	446	c.225C>A	c.(223-225)gaC>gaA	p.D75E	RP11-261N11.8_ENST00000370257.1_RNA|CHRNA4_ENST00000463705.1_Intron	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	75					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CACCTACCACGTCAATGAGCT	0.612																																							uc002yes.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(223-225)GAC>GAA		cholinergic receptor, nicotinic, alpha 4 subunit	Nicotine(DB00184)|Varenicline(DB01273)						114.0	89.0	97.0					20																	61990903		2195	4289	6484	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61990903G>T		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.225C>A	20.37:g.61990903G>T	ENSP00000359285:p.Asp75Glu					CHRNA4_uc002yet.1_Intron|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	p.D75E	NM_000744	NP_000735	P43681	ACHA4_HUMAN			2	403	-	all_cancers(38;1.71e-10)		75			Extracellular (Potential).		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.225C>A	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981778	0.53827	.	.	ENSG00000101204	ENST00000370263	T	0.77358	-1.09	4.26	-2.4	0.06583	Neurotransmitter-gated ion-channel ligand-binding (3);	0.056757	0.64402	D	0.000002	T	0.73908	0.3647	L	0.52011	1.625	0.49687	D	0.999817	D	0.57257	0.979	P	0.51266	0.664	T	0.72097	-0.4393	10	0.51188	T	0.08	.	10.1544	0.42814	0.6672:0.0:0.3327:0.0	.	75	P43681	ACHA4_HUMAN	E	75	ENSP00000359285:D75E	ENSP00000359285:D75E	D	-	3	2	CHRNA4	61461347	0.001000	0.12720	0.993000	0.49108	0.221000	0.24807	-1.164000	0.03135	-0.309000	0.08779	-0.424000	0.05967	GAC		0.612	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			8	40	1	0	2.17888e-05	0.006214	2.89955e-05	8	40				
TMPRSS15	5651	broad.mit.edu	37	21	19698822	19698822	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:19698822G>T	ENST00000284885.3	-	16	1881	c.1848C>A	c.(1846-1848)ctC>ctA	p.L616L		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	616	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CGTTAGTGATGAGAAGCACAG	0.458																																							uc002ykw.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(1846-1848)CTC>CTA		enterokinase precursor							226.0	186.0	199.0					21																	19698822		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19698822G>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1848C>A	21.37:g.19698822G>T							p.L616L	NM_002772	NP_002763	P98073	ENTK_HUMAN			16	1879	-			616			Extracellular (Potential).|CUB 2.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.1848C>A	CCDS13571.1																																																																																				0.458	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		21	51	1	0	7.45023e-12	0.010504	1.31093e-11	21	51				
AIRE	326	broad.mit.edu	37	21	45707006	45707006	+	Silent	SNP	C	C	T	rs554372593		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:45707006C>T	ENST00000291582.5	+	3	580	c.453C>T	c.(451-453)acC>acT	p.T151T		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	151					humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CAAGGGGCACCGCCAGCCCAG	0.706									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				C|||	1	0.000199681	0.0	0.0	5008	,	,		11542	0.0		0.0	False		,,,				2504	0.001						uc002zei.2		NA																	0				skin(1)	1						c.(451-453)ACC>ACT		autoimmune regulator isoform 1							16.0	22.0	20.0					21																	45707006		2154	4220	6374	SO:0001819	synonymous_variant	326	Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45707006C>T	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.453C>T	21.37:g.45707006C>T							p.T151T	NM_000383	NP_000374	O43918	AIRE_HUMAN		Colorectal(79;0.0806)	3	580	+			151					B2RP50|O43922|O43932|O75745	Silent	SNP	ENST00000291582.5	37	c.453C>T	CCDS13706.1																																																																																				0.706	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2			12	31	0	0	0	0.010729	0	12	31				
TRPM2	7226	broad.mit.edu	37	21	45821588	45821588	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:45821588C>A	ENST00000397928.1	+	16	2791	c.2346C>A	c.(2344-2346)ggC>ggA	p.G782G	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.G762G|TRPM2_ENST00000397932.2_Silent_p.G782G|TRPM2_ENST00000300482.5_Silent_p.G782G	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	782					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGGATGTGGGCACCCCCGCGG	0.662																																							uc002zet.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2344-2346)GGC>GGA		transient receptor potential cation channel,							97.0	78.0	84.0					21																	45821588		2203	4300	6503	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45821588C>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2346C>A	21.37:g.45821588C>A						TRPM2_uc002zeu.1_Silent_p.G782G|TRPM2_uc002zew.1_Silent_p.G782G|TRPM2_uc010gpt.1_Silent_p.G782G|TRPM2_uc002zex.1_Silent_p.G568G|TRPM2_uc002zey.1_Silent_p.G295G	p.G782G	NM_003307	NP_003298	O94759	TRPM2_HUMAN			17	2559	+			782			Extracellular (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.2346C>A	CCDS13710.1																																																																																				0.662	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		15	36	1	0	4.93089e-13	0.00245	8.95106e-13	15	36				
KRTAP12-1	353332	broad.mit.edu	37	21	46101879	46101879	+	Missense_Mutation	SNP	C	C	A	rs373654518	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:46101879C>A	ENST00000391617.1	-	1	199	c.160G>T	c.(160-162)Gtg>Ttg	p.V54L	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	54	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						GGCACGCACACAGAGGACTGG	0.662																																							uc002zfv.2		NA																	0				skin(2)	2						c.(160-162)GTG>TTG		keratin associated protein 12-1							73.0	84.0	81.0					21																	46101879		2189	4276	6465	SO:0001583	missense	353332					keratin filament		g.chr21:46101879C>A	AJ566388	CCDS42966.1	21q22.3	2006-03-13			ENSG00000187175	ENSG00000187175		"""Keratin associated proteins"""	20529	protein-coding gene	gene with protein product							Standard	NM_181686		Approved	KRTAP12.1, KAP12.1	uc002zfv.3	P59990	OTTHUMG00000057639	ENST00000391617.1:c.160G>T	21.37:g.46101879C>A	ENSP00000375475:p.Val54Leu					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.V54L	NM_181686	NP_859014	P59990	KR121_HUMAN			1	200	-			54			7.|14 X 5 AA approximate repeats.		Q0VAS3	Missense_Mutation	SNP	ENST00000391617.1	37	c.160G>T	CCDS42966.1	.	.	.	.	.	.	.	.	.	.	c	5.797	0.331400	0.10956	.	.	ENSG00000187175	ENST00000391617	T	0.12465	2.68	3.04	-1.94	0.07571	.	.	.	.	.	T	0.07818	0.0196	.	.	.	0.09310	N	1	P	0.40875	0.731	B	0.28991	0.097	T	0.20371	-1.0277	8	0.59425	D	0.04	.	8.2917	0.31960	0.1593:0.3715:0.4692:0.0	.	54	P59990	KR121_HUMAN	L	54	ENSP00000375475:V54L	ENSP00000375475:V54L	V	-	1	0	KRTAP12-1	44926307	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-0.753000	0.04792	-0.414000	0.07495	0.407000	0.27541	GTG		0.662	KRTAP12-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128043.1	NM_181686		26	67	1	0	2.48779e-11	0.005443	4.31134e-11	26	67				
ITGB2	3689	broad.mit.edu	37	21	46311723	46311723	+	Splice_Site	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:46311723C>T	ENST00000397850.2	-	12	1865		c.e12+1		ITGB2_ENST00000397854.3_Splice_Site|ITGB2_ENST00000397852.1_Splice_Site|ITGB2_ENST00000355153.4_Splice_Site|ITGB2_ENST00000302347.5_Splice_Site|ITGB2_ENST00000397857.1_Splice_Site			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCCCGCCTCACCTGCAGATGC	0.677																																							uc002zgd.2		NA																	0				ovary(4)|central_nervous_system(3)|breast(2)	9						c.e10+1		integrin, beta 2 precursor	Simvastatin(DB00641)						47.0	46.0	47.0					21																	46311723		2203	4300	6503	SO:0001630	splice_region_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46311723C>T	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1412+1G>A	21.37:g.46311723C>T						ITGB2_uc002zge.2_Splice_Site_p.R471_splice|ITGB2_uc002zgf.3_Splice_Site_p.R471_splice|ITGB2_uc011afl.1_Splice_Site_p.R393_splice|ITGB2_uc010gpw.2_Splice_Site_p.R414_splice|ITGB2_uc002zgg.2_Splice_Site_p.R471_splice	p.R471_splice	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	10	1456	-								B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Splice_Site	SNP	ENST00000397850.2	37	c.1412_splice	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593366	0.86953	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9813	0.86328	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITGB2	45136151	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.092000	0.76930	2.615000	0.88500	0.655000	0.94253	.		0.677	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211	Intron	5	17	0	0	0	0.000602	0	5	17				
USP18	11274	broad.mit.edu	37	22	18640461	18640461	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr22:18640461A>G	ENST00000215794.7	+	2	461	c.31A>G	c.(31-33)Atc>Gtc	p.I11V		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	11					cytokine-mediated signaling pathway (GO:0019221)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						CCTGAGGCAAATCTGTCAGTC	0.572											OREG0026287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002zny.2		NA																	0				breast(1)	1						c.(31-33)ATC>GTC		ubiquitin specific protease 18							222.0	234.0	230.0					22																	18640461		2203	4300	6503	SO:0001583	missense	11274				regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr22:18640461A>G	AJ243526	CCDS13752.1	22q11.2	2008-04-11	2005-08-08		ENSG00000184979	ENSG00000184979		"""Ubiquitin-specific peptidases"""	12616	protein-coding gene	gene with protein product		607057	"""ubiquitin specific protease 18"""			12838346	Standard	NM_017414		Approved		uc002zny.3	Q9UMW8	OTTHUMG00000150104	ENST00000215794.7:c.31A>G	22.37:g.18640461A>G	ENSP00000215794:p.Ile11Val		OREG0026287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	727		p.I11V	NM_017414	NP_059110	Q9UMW8	UBP18_HUMAN			2	369	+			11					Q53Y90|Q6IAD9|Q9NY71	Missense_Mutation	SNP	ENST00000215794.7	37	c.31A>G	CCDS13752.1	.	.	.	.	.	.	.	.	.	.	.	3.652	-0.071294	0.07228	.	.	ENSG00000184979	ENST00000215794	T	0.06142	3.34	4.62	2.45	0.29901	.	1.014130	0.07912	N	0.974438	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44513	-0.9323	10	0.05351	T	0.99	.	4.7298	0.12959	0.7074:0.1922:0.1004:0.0	.	11	Q9UMW8	UBP18_HUMAN	V	11	ENSP00000215794:I11V	ENSP00000215794:I11V	I	+	1	0	USP18	17020461	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.942000	0.40243	0.352000	0.24053	0.528000	0.53228	ATC		0.572	USP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316368.1			33	199	0	0	0	0.013726	0	33	199				
CLTCL1	8218	broad.mit.edu	37	22	19175104	19175104	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr22:19175104C>T	ENST00000263200.10	-	29	4643	c.4571G>A	c.(4570-4572)aGc>aAc	p.S1524N	CLTCL1_ENST00000353891.5_Intron|CLTCL1_ENST00000427926.1_Missense_Mutation_p.S1524N|CLTCL1_ENST00000442042.2_Intron	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1524	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GAGCTCCACGCTCTGGGCCCA	0.567			T	?	ALCL																																		uc002zpb.2		NA		Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				ovary(4)|central_nervous_system(1)	5						c.(4570-4572)AGC>AAC		clathrin, heavy polypeptide-like 1 isoform 1							104.0	111.0	108.0					22																	19175104		2075	4210	6285	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19175104C>T		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4571G>A	22.37:g.19175104C>T	ENSP00000445677:p.Ser1524Asn					CLTCL1_uc011agv.1_Intron|CLTCL1_uc011agw.1_Missense_Mutation_p.S1503N|CLTCL1_uc011agt.1_Missense_Mutation_p.S315N|CLTCL1_uc011agu.1_Intron	p.S1524N	NM_007098	NP_009029	P53675	CLH2_HUMAN			30	4646	-	Colorectal(54;0.0993)		1524			Proximal segment.|Heavy chain arm.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.4571G>A	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848233	0.91277	.	.	ENSG00000070371	ENST00000263200;ENST00000427926	T;T	0.20598	2.06;2.06	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	M	0.91818	3.245	0.80722	D	1	D	0.58970	0.984	D	0.70716	0.97	T	0.68503	-0.5391	10	0.87932	D	0	-14.4472	16.5405	0.84383	0.0:1.0:0.0:0.0	.	1524	P53675	CLH2_HUMAN	N	1524	ENSP00000445677:S1524N;ENSP00000441158:S1524N	ENSP00000445677:S1524N	S	-	2	0	CLTCL1	17555104	1.000000	0.71417	0.979000	0.43373	0.968000	0.65278	6.958000	0.76025	2.137000	0.66172	0.650000	0.86243	AGC		0.567	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		6	42	0	0	0	0.001168	0	6	42				
TRMT2A	27037	broad.mit.edu	37	22	20104030	20104030	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr22:20104030T>C	ENST00000252136.7	-	2	518	c.130A>G	c.(130-132)Aaa>Gaa	p.K44E	RANBP1_ENST00000402752.1_5'Flank|RANBP1_ENST00000430524.1_Intron|RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000403707.3_Missense_Mutation_p.K44E|TRMT2A_ENST00000492988.1_5'Flank|TRMT2A_ENST00000439169.2_Missense_Mutation_p.K44E|TRMT2A_ENST00000404751.3_Missense_Mutation_p.K44E	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	44					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						GCGCCCTCTTTCTCCACCTCC	0.642																																							uc002zrk.1		NA																	0				breast(1)	1						c.(130-132)AAA>GAA		HpaII tiny fragments locus 9C							20.0	26.0	24.0					22																	20104030		2113	4129	6242	SO:0001583	missense	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20104030T>C	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.130A>G	22.37:g.20104030T>C	ENSP00000252136:p.Lys44Glu					TRMT2A_uc002zrl.1_Missense_Mutation_p.K44E|TRMT2A_uc002zrm.1_5'UTR|TRMT2A_uc002zrn.1_Missense_Mutation_p.K44E|TRMT2A_uc011ahk.1_Missense_Mutation_p.K44E|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	p.K44E	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN			3	345	-			44					D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	c.130A>G	CCDS13774.1	.	.	.	.	.	.	.	.	.	.	T	10.01	1.234605	0.22626	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169;ENST00000445045	T;T;T	0.42131	0.98;0.98;0.99	5.2	-3.24	0.05094	.	1.480420	0.04615	N	0.400922	T	0.15435	0.0372	N	0.03608	-0.345	0.09310	N	0.999995	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.31194	-0.9952	10	0.02654	T	1	0.1769	6.3656	0.21453	0.0:0.334:0.1324:0.5336	.	44;44;44	B4E213;F2Z2W7;Q8IZ69	.;.;TRM2A_HUMAN	E	44;44;44;44;32	ENSP00000252136:K44E;ENSP00000385807:K44E;ENSP00000395738:K44E	ENSP00000252136:K44E	K	-	1	0	TRMT2A	18484030	0.000000	0.05858	0.000000	0.03702	0.113000	0.19764	0.127000	0.15790	-0.050000	0.13356	-0.608000	0.04076	AAA		0.642	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		7	40	0	0	0	0.001984	0	7	40				
TRIOBP	11078	broad.mit.edu	37	22	38150967	38150967	+	Silent	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr22:38150967T>C	ENST00000406386.3	+	13	5718	c.5463T>C	c.(5461-5463)taT>taC	p.Y1821Y	TRIOBP_ENST00000407319.2_Silent_p.Y108Y|TRIOBP_ENST00000403663.2_Silent_p.Y108Y	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1821	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GTCTCAAATATTACAGAGACT	0.567																																							uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(5461-5463)TAT>TAC		TRIO and F-actin binding protein isoform 6							106.0	88.0	94.0					22																	38150967		2203	4300	6503	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38150967T>C	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.5463T>C	22.37:g.38150967T>C						TRIOBP_uc003atu.2_Silent_p.Y1649Y|TRIOBP_uc003atv.2_Silent_p.Y108Y|TRIOBP_uc003atw.2_Silent_p.Y108Y|TRIOBP_uc003atx.1_5'Flank|TRIOBP_uc010gxh.2_5'Flank	p.Y1821Y	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			13	5734	+	Melanoma(58;0.0574)		1821			PH.		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.5463T>C	CCDS43015.1																																																																																				0.567	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			4	23	0	0	0	0.000602	0	4	23				
PRR5	55615	broad.mit.edu	37	22	45132666	45132667	+	Missense_Mutation	DNP	CG	CG	TT			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr22:45132666_45132667CG>TT	ENST00000336985.6	+	8	983_984	c.706_707CG>TT	c.(706-708)CGc>TTc	p.R236F	PRR5_ENST00000006251.7_Missense_Mutation_p.R227F|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5_ENST00000403581.1_Missense_Mutation_p.R259F|PRR5-ARHGAP8_ENST00000361473.5_Intron|ARHGAP8_ENST00000517296.3_Intron|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000477331.1_3'UTR	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	236					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		GCGCCTCCTCCGCCGCTCCCGC	0.678																																							uc003bfb.1		NA																	0				skin(1)	1						c.(706-708)CGC>TTC		proline rich 5 (renal) isoform 1																																				SO:0001583	missense	55615				cell cycle			g.chr22:45132666_45132667CG>TT	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	Exception_encountered	22.37:g.45132666_45132667delinsTT	ENSP00000337464:p.Arg236Phe					PRR5_uc003bew.1_Missense_Mutation_p.R227F|PRR5_uc003bex.1_Missense_Mutation_p.R141F|PRR5_uc010gzt.1_Missense_Mutation_p.R259F|PRR5_uc010gzu.1_Missense_Mutation_p.R200F|PRR5_uc003bey.1_Missense_Mutation_p.R227F|PRR5_uc003bez.1_Missense_Mutation_p.R141F|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc003bfd.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.R129F|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.R135F	p.R236F	NM_181333	NP_851850	P85299	PRR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)	8	978_979	+		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)	236					B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	DNP	ENST00000336985.6	37	c.706_707CG>TT	CCDS14058.1																																																																																				0.678	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		10	78	0	0	0	0.004672	0	10	78				
SRGAP3	9901	broad.mit.edu	37	3	9102045	9102045	+	Splice_Site	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:9102045T>A	ENST00000383836.3	-	6	1100		c.e6-2		SRGAP3_ENST00000433332.3_Splice_Site|SRGAP3_ENST00000360413.3_Splice_Site	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGCCTGCCTCTGGAAGAAGAA	0.433			T	RAF1	pilocytic astrocytoma																																		uc003brf.1		NA		Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(4)	0				central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9						c.e6-1		SLIT-ROBO Rho GTPase activating protein 3							125.0	116.0	119.0					3																	9102045		2203	4300	6503	SO:0001630	splice_region_variant	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9102045T>A	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.673-2A>T	3.37:g.9102045T>A						SRGAP3_uc003brg.1_Splice_Site_p.R225_splice|SRGAP3_uc003bri.1_Splice_Site|SRGAP3_uc003brk.2_Intron|SRGAP3_uc003brj.1_Splice_Site_p.R85_splice	p.R225_splice	NM_014850	NP_055665	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	6	1349	-								Q8IX13|Q8IZV8	Splice_Site	SNP	ENST00000383836.3	37	c.673_splice	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985971	0.74589	.	.	ENSG00000196220	ENST00000383836;ENST00000360413;ENST00000544908	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8468	0.70267	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SRGAP3	9077045	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	7.873000	0.87193	1.992000	0.58205	0.377000	0.23210	.		0.433	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3		Intron	12	47	0	0	0	0.013537	0	12	47				
WNT7A	7476	broad.mit.edu	37	3	13916538	13916538	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:13916538C>A	ENST00000285018.4	-	2	508	c.204G>T	c.(202-204)atG>atT	p.M68I	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	68					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)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CGTCCAGGCCCATTTGTGAGC	0.592																																							uc003bye.1		NA																	0				ovary(2)|breast(1)	3						c.(202-204)ATG>ATT		wingless-type MMTV integration site family,							64.0	57.0	59.0					3																	13916538		2203	4300	6503	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.chr3:13916538C>A	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.204G>T	3.37:g.13916538C>A	ENSP00000285018:p.Met68Ile						p.M68I	NM_004625	NP_004616	O00755	WNT7A_HUMAN			2	509	-			68					Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	c.204G>T	CCDS2616.1	.	.	.	.	.	.	.	.	.	.	c	19.05	3.750936	0.69533	.	.	ENSG00000154764	ENST00000285018	T	0.75260	-0.92	5.31	5.31	0.75309	.	0.043710	0.85682	N	0.000000	T	0.67050	0.2852	L	0.28694	0.88	0.80722	D	1	B	0.20459	0.045	B	0.25405	0.06	T	0.60994	-0.7152	10	0.30078	T	0.28	.	18.9939	0.92804	0.0:1.0:0.0:0.0	.	68	O00755	WNT7A_HUMAN	I	68	ENSP00000285018:M68I	ENSP00000285018:M68I	M	-	3	0	WNT7A	13891539	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.739000	0.84976	2.481000	0.83766	0.651000	0.88453	ATG		0.592	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		9	22	1	0	0.000274275	0.004482	0.000331637	9	22				
GRIP2	80852	broad.mit.edu	37	3	14564574	14564574	+	RNA	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:14564574G>T	ENST00000273083.3	-	0	564							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCATCTTCATGGGCACCTCCT	0.602																																							uc011avi.1		NA																	0				pancreas(1)	1						c.(790-792)CAT>AAT		glutamate receptor interacting protein 2							55.0	59.0	58.0					3																	14564574		1946	4134	6080			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14564574G>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14564574G>T						GRIP2_uc011avh.1_5'UTR|GRIP2_uc003byu.1_3'UTR|GRIP2_uc003byv.1_3'UTR	p.H264N	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			7	790	-			167			PDZ 2.		Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37	c.790C>A																																																																																					0.602	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		18	37	1	0	1.67942e-08	0.006122	2.626e-08	18	37				
SUSD5	26032	broad.mit.edu	37	3	33249344	33249344	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:33249344G>T	ENST00000309558.3	-	3	782	c.365C>A	c.(364-366)cCa>cAa	p.P122Q		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	122	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACCAGGAACTGGGTTGCTCTC	0.458																																							uc003cfo.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(364-366)CCA>CAA		sushi domain containing 5 precursor							160.0	154.0	156.0					3																	33249344		1966	4165	6131	SO:0001583	missense	26032				cell adhesion	integral to membrane	hyaluronic acid binding	g.chr3:33249344G>T	AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.365C>A	3.37:g.33249344G>T	ENSP00000308727:p.Pro122Gln						p.P122Q	NM_015551	NP_056366	O60279	SUSD5_HUMAN			3	783	-			122			Extracellular (Potential).|Link.			Missense_Mutation	SNP	ENST00000309558.3	37	c.365C>A	CCDS46787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.64|17.64	3.440010|3.440010	0.63067|0.63067	.|.	.|.	ENSG00000173705|ENSG00000173705	ENST00000309558|ENST00000412539	T|.	0.09817|.	2.94|.	5.46|5.46	4.57|4.57	0.56435|0.56435	C-type lectin fold (1);Link (2);C-type lectin-like (1);|.	0.119302|.	0.56097|.	D|.	0.000032|.	T|T	0.65481|0.65481	0.2695|0.2695	M|M	0.77103|0.77103	2.36|2.36	0.32486|0.32486	N|N	0.540861|0.540861	D|.	0.89917|.	1.0|.	D|.	0.81914|.	0.995|.	T|T	0.72261|0.72261	-0.4345|-0.4345	10|5	0.72032|.	D|.	0.01|.	-12.7593|-12.7593	12.3436|12.3436	0.55107|0.55107	0.0847:0.0:0.9153:0.0|0.0847:0.0:0.9153:0.0	.|.	122|.	O60279|.	SUSD5_HUMAN|.	Q|K	122|121	ENSP00000308727:P122Q|.	ENSP00000308727:P122Q|.	P|Q	-|-	2|1	0|0	SUSD5|SUSD5	33224348|33224348	1.000000|1.000000	0.71417|0.71417	0.398000|0.398000	0.26321|0.26321	0.977000|0.977000	0.68977|0.68977	4.135000|4.135000	0.57997|0.57997	2.726000|2.726000	0.93360|0.93360	0.655000|0.655000	0.94253|0.94253	CCA|CAG		0.458	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341902.1	XM_171054		12	52	1	0	1.49906e-05	0.00245	2.0183e-05	12	52				
DNAH12	201625	broad.mit.edu	37	3	57496642	57496642	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:57496642C>A	ENST00000351747.2	-	5	524	c.344G>T	c.(343-345)tGg>tTg	p.W115L	DNAH12_ENST00000311202.6_Missense_Mutation_p.W115L|RNU6-1181P_ENST00000384191.1_RNA|DNAH12_ENST00000389536.4_Missense_Mutation_p.W115L	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	115	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GTGATCCAGCCATTCCTGCTG	0.353																																							uc003dit.2		NA																	0				pancreas(1)|skin(1)	2						c.(343-345)TGG>TTG		dynein heavy chain domain 2 isoform 1							108.0	102.0	104.0					3																	57496642		2203	4300	6503	SO:0001583	missense	201625				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:57496642C>A	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.344G>T	3.37:g.57496642C>A	ENSP00000295937:p.Trp115Leu					DNAH12_uc003diu.2_Missense_Mutation_p.W115L	p.W115L	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN			5	525	-			115			Stem (By similarity).		A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	37	c.344G>T		.	.	.	.	.	.	.	.	.	.	C	14.11	2.437412	0.43224	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536;ENST00000311202	T;T;T;T	0.21932	2.16;1.98;3.33;2.75	4.95	4.95	0.65309	.	0.085168	0.49916	D	0.000125	T	0.45377	0.1339	M	0.68952	2.095	0.80722	D	1	D;P	0.71674	0.998;0.78	D;B	0.65874	0.939;0.335	T	0.47497	-0.9113	10	0.87932	D	0	.	18.2272	0.89921	0.0:1.0:0.0:0.0	.	115;115	Q6ZR08-4;Q6ZR08	.;DYH12_HUMAN	L	115	ENSP00000295937:W115L;ENSP00000418137:W115L;ENSP00000374187:W115L;ENSP00000312554:W115L	ENSP00000312554:W115L	W	-	2	0	DNAH12	57471682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.064000	0.76721	2.293000	0.77203	0.563000	0.77884	TGG		0.353	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504		7	32	1	0	7.48243e-07	0.006214	1.07248e-06	7	32				
OR5K3	403277	broad.mit.edu	37	3	98109761	98109761	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:98109761C>G	ENST00000383695.1	+	1	252	c.252C>G	c.(250-252)aaC>aaG	p.N84K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TGTTAGAGAACTTCTTTTCTG	0.403																																							uc011bgw.1		NA																	0					0						c.(250-252)AAC>AAG		olfactory receptor, family 5, subfamily K,							262.0	260.0	261.0					3																	98109761		2203	4300	6503	SO:0001583	missense	403277				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98109761C>G		CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"""GPCR / Class A : Olfactory receptors"""	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.252C>G	3.37:g.98109761C>G	ENSP00000373194:p.Asn84Lys						p.N84K	NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN			1	252	+			84			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000383695.1	37	c.252C>G	CCDS33803.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.513833	0.44763	.	.	ENSG00000206536	ENST00000383695	T	0.01963	4.53	5.35	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	0.132624	0.34046	N	0.004308	T	0.08626	0.0214	M	0.90145	3.09	0.26714	N	0.970903	P	0.49783	0.928	P	0.48654	0.585	T	0.09335	-1.0679	10	0.87932	D	0	-31.9242	10.263	0.43438	0.0:0.9077:0.0:0.0923	.	84	A6NET4	OR5K3_HUMAN	K	84	ENSP00000373194:N84K	ENSP00000373194:N84K	N	+	3	2	OR5K3	99592451	0.000000	0.05858	1.000000	0.80357	0.589000	0.36550	-0.283000	0.08433	1.369000	0.46134	0.603000	0.83216	AAC		0.403	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359110.1			40	188	0	0	0	0.011902	0	40	188				
POLQ	10721	broad.mit.edu	37	3	121207919	121207919	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:121207919T>A	ENST00000264233.5	-	16	3987	c.3859A>T	c.(3859-3861)Aat>Tat	p.N1287Y		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1287					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)			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)		CTAGAAATATTTAGAAAATTC	0.348								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3		NA																	0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(3859-3861)AAT>TAT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							77.0	83.0	81.0					3																	121207919		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121207919T>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.3859A>T	3.37:g.121207919T>A	ENSP00000264233:p.Asn1287Tyr					POLQ_uc003eed.2_Missense_Mutation_p.N459Y	p.N1287Y	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	3988	-			1287					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.3859A>T	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	T	12.38	1.919861	0.33908	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.52526	0.66	5.34	5.34	0.76211	.	0.346678	0.28077	N	0.016689	T	0.54382	0.1855	L	0.32530	0.975	0.28908	N	0.892884	D;D	0.89917	0.996;1.0	P;D	0.73380	0.887;0.98	T	0.53265	-0.8463	10	0.66056	D	0.02	.	9.3041	0.37865	0.0:0.0802:0.0:0.9198	.	1287;459	O75417;O75417-2	DPOLQ_HUMAN;.	Y	910;1287;1423	ENSP00000264233:N1287Y	ENSP00000264233:N1287Y	N	-	1	0	POLQ	122690609	0.088000	0.21588	0.947000	0.38551	0.175000	0.22909	1.755000	0.38379	2.233000	0.73108	0.460000	0.39030	AAT		0.348	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		21	56	0	0	0	0.012319	0	21	56				
EFCAB12	90288	broad.mit.edu	37	3	129130082	129130082	+	Silent	SNP	C	C	G	rs374245278	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:129130082C>G	ENST00000505956.1	-	5	1116	c.954G>C	c.(952-954)acG>acC	p.T318T	EFCAB12_ENST00000326085.3_Silent_p.T318T	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	318							calcium ion binding (GO:0005509)										TCTCCATCTGCGTGTCGACTG	0.622																																							uc003emg.2		NA																	0					NA						c.(952-954)ACG>ACC		hypothetical protein LOC90288							38.0	43.0	42.0					3																	129130082		2142	4230	6372	SO:0001819	synonymous_variant	0							g.chr3:129130082C>G	AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.954G>C	3.37:g.129130082C>G							p.T318T	NM_207307	NP_997190					5	1117	-								Q69YX4	Silent	SNP	ENST00000505956.1	37	c.954G>C	CCDS54638.1																																																																																				0.622	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355530.1	NM_207307		6	11	0	0	0	0.001168	0	6	11				
COL6A5	256076	broad.mit.edu	37	3	130174340	130174340	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:130174340G>T	ENST00000432398.2	+	37	7114	c.6620G>T	c.(6619-6621)gGc>gTc	p.G2207V	COL6A5_ENST00000265379.6_Missense_Mutation_p.G2207V	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2207	Nonhelical region.				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)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGAGGTAATGGCTTCATTGGC	0.358																																							uc010htj.1		NA																	0					0						c.(6619-6621)GGC>GTC		collagen, type XXIX, alpha 1							44.0	43.0	43.0					3																	130174340		1806	4066	5872	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130174340G>T	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.6620G>T	3.37:g.130174340G>T	ENSP00000390895:p.Gly2207Val					COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.G246V	p.G2207V	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			37	7114	+			2207			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6620G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.758|1.758	-0.487581|-0.487581	0.04352|0.04352	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	D;D;T;T|.	0.88896|.	-2.35;-2.44;-0.85;-0.7|.	4.26|4.26	-0.105|-0.105	0.13601|0.13601	.|.	1.787490|.	0.03789|.	U|.	0.262604|.	T|T	0.33469|0.33469	0.0864|0.0864	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	1|1	B;B|.	0.19583|.	0.037;0.018|.	B;B|.	0.23018|.	0.009;0.043|.	T|T	0.29579|0.29579	-1.0007|-1.0007	10|5	0.30854|.	T|.	0.27|.	.|.	6.2786|6.2786	0.20995|0.20995	0.1839:0.2808:0.5353:0.0|0.1839:0.2808:0.5353:0.0	.|.	2207;2207|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	V|C	2207;2207;150;42|458	ENSP00000390895:G2207V;ENSP00000265379:G2207V;ENSP00000362250:G150V;ENSP00000424968:G42V|.	ENSP00000265379:G2207V|.	G|W	+|+	2|3	0|0	COL6A5|COL6A5	131657030|131657030	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	-0.019000|-0.019000	0.12546|0.12546	-0.064000|-0.064000	0.13043|0.13043	-1.847000|-1.847000	0.00572|0.00572	GGC|TGG		0.358	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		5	28	1	0	5.9392e-07	0.001168	8.56639e-07	5	28				
ACAD11	84129	broad.mit.edu	37	3	132294735	132294735	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:132294735G>T	ENST00000264990.6	-	17	2853	c.1882C>A	c.(1882-1884)Ctt>Att	p.L628I	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Missense_Mutation_p.L153I	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	628					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CCAGGTCCAAGGCGGCCTTGG	0.478																																							uc003eov.3		NA																	0				ovary(1)	1						c.(1882-1884)CTT>ATT		putative acyl-CoA dehydrogenase							89.0	86.0	87.0					3																	132294735		2203	4300	6503	SO:0001583	missense	84129					peroxisome	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups	g.chr3:132294735G>T	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1882C>A	3.37:g.132294735G>T	ENSP00000264990:p.Leu628Ile						p.L628I	NM_032169	NP_115545	Q709F0	ACD11_HUMAN			17	2262	-			628					Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.1882C>A	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495861	0.85069	.	.	ENSG00000240303	ENST00000264990;ENST00000545291	D;D	0.99719	-6.52;-6.52	5.59	5.59	0.84812	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	.	.	.	.	D	0.99746	0.9899	M	0.93720	3.45	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97462	1.0035	9	0.87932	D	0	.	11.7927	0.52078	0.0815:0.0:0.9185:0.0	.	628	Q709F0	ACD11_HUMAN	I	628;153	ENSP00000264990:L628I;ENSP00000446263:L153I	ENSP00000264990:L628I	L	-	1	0	ACAD11	133777425	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	4.202000	0.58446	2.615000	0.88500	0.591000	0.81541	CTT		0.478	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169		10	76	1	0	1.58986e-06	0.008291	2.25067e-06	10	76				
NPHP3	27031	broad.mit.edu	37	3	132440852	132440852	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:132440852C>T	ENST00000337331.5	-	1	434	c.348G>A	c.(346-348)gaG>gaA	p.E116E	NPHP3_ENST00000383282.2_Silent_p.E116E|NPHP3_ENST00000343113.4_Silent_p.E116E|NPHP3_ENST00000326682.8_Silent_p.E116E|NPHP3-AS1_ENST00000504440.1_RNA|NPHP3-AS1_ENST00000489343.1_RNA	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	116					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)		p.E116E(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAGCTTGGCCTCGCGGCGGC	0.667																																							uc003epe.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(346-348)GAG>GAA		nephrocystin 3							26.0	29.0	28.0					3																	132440852		2156	4194	6350	SO:0001819	synonymous_variant	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132440852C>T	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.348G>A	3.37:g.132440852C>T						NCRNA00119_uc003epg.1_5'Flank|NPHP3_uc003epf.1_5'UTR|NCRNA00119_uc010htu.1_5'Flank	p.E116E	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			1	425	-			116			Potential.		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Silent	SNP	ENST00000337331.5	37	c.348G>A	CCDS3078.1																																																																																				0.667	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		9	33	0	0	0	0.006214	0	9	33				
ZIC4	84107	broad.mit.edu	37	3	147120558	147120558	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:147120558C>A	ENST00000383075.3	-	2	539	c.27G>T	c.(25-27)atG>atT	p.M9I	ZIC4_ENST00000491672.1_Missense_Mutation_p.M9I|ZIC4_ENST00000473123.1_Missense_Mutation_p.M9I|ZIC4_ENST00000525172.2_Missense_Mutation_p.M59I|ZIC4_ENST00000425731.3_Missense_Mutation_p.M47I|ZIC4_ENST00000484399.1_Missense_Mutation_p.M9I	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	9						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						ATCGTTTCCTCATCACCAAGG	0.378																																							uc003ewd.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(25-27)ATG>ATT		zinc finger protein of the cerebellum 4							163.0	149.0	153.0					3																	147120558		1882	4097	5979	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147120558C>A	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.27G>T	3.37:g.147120558C>A	ENSP00000372553:p.Met9Ile					ZIC4_uc011bno.1_Missense_Mutation_p.M59I	p.M9I	NM_032153	NP_115529	Q8N9L1	ZIC4_HUMAN			2	300	-			9					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.27G>T	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643016	0.67244	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672;ENST00000462748;ENST00000484586;ENST00000463250	T;T;T;T;T;T;T	0.11821	2.92;2.77;2.74;2.92;2.92;2.94;2.78	6.06	6.06	0.98353	.	0.235439	0.29015	N	0.013411	T	0.14743	0.0356	L	0.29908	0.895	0.80722	D	1	B;B	0.20368	0.044;0.0	B;B	0.15870	0.014;0.004	T	0.04307	-1.0961	10	0.66056	D	0.02	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	59;9	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	I	9;47;59;9;9;9;9;9;9	ENSP00000372553:M9I;ENSP00000397695:M47I;ENSP00000435509:M59I;ENSP00000417855:M9I;ENSP00000420775:M9I;ENSP00000418277:M9I;ENSP00000420627:M9I	ENSP00000372553:M9I	M	-	3	0	ZIC4	148603248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.114000	0.64648	2.882000	0.98803	0.655000	0.94253	ATG		0.378	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			18	40	1	0	1.64113e-05	0.010504	2.20527e-05	18	40				
CPB1	1360	broad.mit.edu	37	3	148558715	148558715	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:148558715A>T	ENST00000491148.1	+	6	761	c.427A>T	c.(427-429)Agt>Tgt	p.S143C	CPB1_ENST00000282957.4_Missense_Mutation_p.S143C			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	143						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CATCTCTCGCAGTGTTATCGG	0.438																																							uc003ewl.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(427-429)AGT>TGT		pancreatic carboxypeptidase B1 preproprotein							156.0	144.0	148.0					3																	148558715		2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148558715A>T	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.427A>T	3.37:g.148558715A>T	ENSP00000417222:p.Ser143Cys						p.S143C	NM_001871	NP_001862	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		5	450	+			143					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.427A>T	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	A	15.63	2.889879	0.52014	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.11063	2.81;2.81	5.29	4.06	0.47325	Peptidase M14, carboxypeptidase A (2);	0.421166	0.29417	N	0.012211	T	0.24198	0.0586	M	0.83118	2.625	0.09310	N	1	D	0.63046	0.992	P	0.55260	0.772	T	0.12915	-1.0529	10	0.62326	D	0.03	.	6.3534	0.21389	0.6049:0.1379:0.0:0.2572	.	143	P15086	CBPB1_HUMAN	C	143	ENSP00000417222:S143C;ENSP00000282957:S143C	ENSP00000282957:S143C	S	+	1	0	CPB1	150041405	0.000000	0.05858	0.637000	0.29366	0.995000	0.86356	0.912000	0.28597	2.003000	0.58678	0.533000	0.62120	AGT		0.438	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		10	39	0	0	0	0.008291	0	10	39				
MED12L	116931	broad.mit.edu	37	3	150876565	150876565	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:150876565C>A	ENST00000474524.1	+	6	854	c.816C>A	c.(814-816)ctC>ctA	p.L272L	MED12L_ENST00000422248.2_Silent_p.L272L|MED12L_ENST00000273432.4_Silent_p.L272L|MED12L_ENST00000309237.4_Silent_p.L272L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	272						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCTTAAACTCTTGCTACCAC	0.383																																							uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(814-816)CTC>CTA		mediator of RNA polymerase II transcription,							88.0	80.0	83.0					3																	150876565		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150876565C>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.816C>A	3.37:g.150876565C>A						MED12L_uc011bnz.1_Silent_p.L272L|MED12L_uc003eym.1_Silent_p.L272L|MED12L_uc003eyn.2_Silent_p.L272L|MED12L_uc003eyo.2_Silent_p.L272L	p.L272L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	854	+			272					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.816C>A	CCDS33876.1																																																																																				0.383	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		8	15	1	0	0.00448238	0.004482	0.00501444	8	15				
GPR149	344758	broad.mit.edu	37	3	154147332	154147333	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:154147332_154147333GG>TT	ENST00000389740.2	-	1	171_172	c.72_73CC>AA	c.(70-75)gaCCtt>gaAAtt	p.24_25DL>EI		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	24					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGATTTAAAAGGTCCGTAGAAT	0.371																																							uc003faa.2		NA																	0				ovary(6)	6						c.(70-75)GACCTT>GAAATT		G protein-coupled receptor 149																																				SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154147332_154147333GG>TT	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.72_73delinsTT	3.37:g.154147332_154147333delinsTT	ENSP00000374390:p.D24_L25delinsEI						p.24_25DL>EI	NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		1	172_173	-			24_25			Extracellular (Potential).			Missense_Mutation	DNP	ENST00000389740.2	37	c.72_73CC>AA	CCDS43162.1																																																																																				0.371	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		4	33	0	0	0	0.004672	0	4	33				
SHOX2	6474	broad.mit.edu	37	3	157816033	157816033	+	Missense_Mutation	SNP	G	G	T	rs145675724		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:157816033G>T	ENST00000425436.3	-	5	804	c.779C>A	c.(778-780)gCg>gAg	p.A260E	SHOX2_ENST00000441443.2_Missense_Mutation_p.A119E|SHOX2_ENST00000483851.2_Missense_Mutation_p.A248E|SHOX2_ENST00000389589.4_Missense_Mutation_p.A284E|SHOX2_ENST00000490689.2_Missense_Mutation_p.A119E	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	260					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GTGGTGGTGCGCGTGCGCCAC	0.637																																							uc003fbr.2		NA																	0					0						c.(778-780)GCG>GAG		short stature homeobox 2 isoform a		G	GLU/ALA,GLU/ALA,GLU/ALA	2,4404	4.2+/-10.8	0,2,2201	51.0	54.0	53.0		743,851,779	4.9	1.0	3	dbSNP_134	53	0,8600		0,0,4300	no	missense,missense,missense	SHOX2	NM_001163678.1,NM_003030.4,NM_006884.3	107,107,107	0,2,6501	TT,TG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	248/320,284/356,260/332	157816033	2,13004	2203	4300	6503	SO:0001583	missense	6474				nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:157816033G>T	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.779C>A	3.37:g.157816033G>T	ENSP00000398704:p.Ala260Glu					SHOX2_uc003fbs.2_Missense_Mutation_p.A284E|SHOX2_uc010hvw.2_Missense_Mutation_p.A248E	p.A260E	NM_006884	NP_006875	O60902	SHOX2_HUMAN	Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)		5	918	-			260					O60465|O60467|O60903	Missense_Mutation	SNP	ENST00000425436.3	37	c.779C>A	CCDS43164.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.792938|4.792938	0.90453|0.90453	4.54E-4|4.54E-4	0.0|0.0	ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000258518|ENSG00000168779	ENST00000425436;ENST00000490689;ENST00000389589;ENST00000313019;ENST00000441443;ENST00000483851|ENST00000555977	D;D;D;D;D|.	0.93953|.	-2.99;-3.32;-3.1;-3.32;-3.22|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.60983|0.60983	0.2311|0.2311	L|L	0.39898|0.39898	1.24|1.24	0.58432|0.58432	D|D	0.999999|0.999999	P;D;D|.	0.69078|.	0.872;0.997;0.996|.	P;D;P|.	0.68192|.	0.555;0.956;0.858|.	T|T	0.57171|0.57171	-0.7857|-0.7857	10|5	0.51188|.	T|.	0.08|.	.|.	17.2347|17.2347	0.86995|0.86995	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	248;284;260|.	O60902-2;O60902-3;O60902|.	.;.;SHOX2_HUMAN|.	E|S	284;119;260;119;119;248|151	ENSP00000398704:A284E;ENSP00000451888:A119E;ENSP00000374240:A260E;ENSP00000397099:A119E;ENSP00000419362:A248E|.	ENSP00000327294:A119E|.	A|R	-|-	2|1	0|0	SHOX2;AC112502.1|SHOX2	159298727|159298727	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.142000|9.142000	0.94618|0.94618	2.420000|2.420000	0.82092|0.82092	0.655000|0.655000	0.94253|0.94253	GCG|CGC		0.637	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2			14	45	1	0	9.31168e-06	0.001855	1.27365e-05	14	45				
BCHE	590	broad.mit.edu	37	3	165547336	165547336	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:165547336C>T	ENST00000264381.3	-	2	1652	c.1486G>A	c.(1486-1488)Gtg>Atg	p.V496M	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	496					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CACCGTTTCACTATGGATCTA	0.393																																							uc003fem.3		NA																	0				ovary(3)|pancreas(1)	4						c.(1486-1488)GTG>ATG		butyrylcholinesterase precursor	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						84.0	90.0	88.0					3																	165547336		2203	4300	6503	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165547336C>T	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1486G>A	3.37:g.165547336C>T	ENSP00000264381:p.Val496Met					BCHE_uc003fen.3_Intron	p.V496M	NM_000055	NP_000046	P06276	CHLE_HUMAN			2	1646	-			496					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.1486G>A	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	C	0.015	-1.551385	0.00918	.	.	ENSG00000114200	ENST00000264381	T	0.66280	-0.2	5.52	4.38	0.52667	Carboxylesterase, type B (1);	0.081294	0.85682	N	0.000000	T	0.21103	0.0508	N	0.00408	-1.53	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.27739	-1.0065	10	0.02654	T	1	.	6.5581	0.22471	0.1375:0.0788:0.0:0.7838	.	496	P06276	CHLE_HUMAN	M	496	ENSP00000264381:V496M	ENSP00000264381:V496M	V	-	1	0	BCHE	167030030	0.984000	0.35163	0.999000	0.59377	0.745000	0.42441	2.014000	0.40951	0.943000	0.37553	-0.469000	0.05056	GTG		0.393	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			7	38	0	0	0	0.00308	0	7	38				
SERPINI1	5274	broad.mit.edu	37	3	167506983	167506983	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:167506983G>T	ENST00000295777.5	+	2	498	c.67G>T	c.(67-69)Gag>Tag	p.E23*	SERPINI1_ENST00000446050.2_Nonsense_Mutation_p.E23*	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	23					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CACTTTCCCTGAGGAAGCCAT	0.413																																							uc003ffa.3		NA																	0				skin(1)	1						c.(67-69)GAG>TAG		neuroserpin precursor							77.0	76.0	77.0					3																	167506983		2203	4300	6503	SO:0001587	stop_gained	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167506983G>T	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.67G>T	3.37:g.167506983G>T	ENSP00000295777:p.Glu23*					SERPINI1_uc003ffb.3_Nonsense_Mutation_p.E23*	p.E23*	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN			2	265	+			23					A8K217|D3DNP1|Q6AHZ4	Nonsense_Mutation	SNP	ENST00000295777.5	37	c.67G>T	CCDS3203.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884744	0.91814	.	.	ENSG00000163536	ENST00000472941;ENST00000446050;ENST00000295777;ENST00000472747	.	.	.	5.23	5.23	0.72850	.	0.234564	0.50627	D	0.000120	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.1704	0.93575	0.0:0.0:1.0:0.0	.	.	.	.	X	23	.	ENSP00000295777:E23X	E	+	1	0	SERPINI1	168989677	1.000000	0.71417	0.956000	0.39512	0.004000	0.04260	7.031000	0.76491	2.573000	0.86826	0.655000	0.94253	GAG		0.413	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			12	39	1	0	1.05317e-09	0.00245	1.71296e-09	12	39				
LRRC34	151827	broad.mit.edu	37	3	169525463	169525463	+	Missense_Mutation	SNP	T	T	C	rs546021274		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:169525463T>C	ENST00000316515.7	-	3	529	c.253A>G	c.(253-255)Aac>Gac	p.N85D	LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000522526.2_Missense_Mutation_p.N98D|LRRC34_ENST00000522830.1_Missense_Mutation_p.N37D|LRRC34_ENST00000446859.1_Missense_Mutation_p.N98D	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	85										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AAGCGATTGTTACCAGCAATG	0.289																																							uc003ffx.2		NA																	0					0						c.(253-255)AAC>GAC		leucine rich repeat containing 34																																				SO:0001583	missense	151827							g.chr3:169525463T>C	AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.253A>G	3.37:g.169525463T>C	ENSP00000326150:p.Asn85Asp					LRRC34_uc003ffy.2_Missense_Mutation_p.N85D|LRRC34_uc011bpn.1_Missense_Mutation_p.N85D|LRRC34_uc003ffz.2_Missense_Mutation_p.N37D|LRRC34_uc003fga.3_Missense_Mutation_p.N37D	p.N85D	NM_153353	NP_699184	Q8IZ02	LRC34_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		3	268	-	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		85					B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	ENST00000316515.7	37	c.253A>G		.	.	.	.	.	.	.	.	.	.	T	20.7	4.034313	0.75617	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526	T;T;T;T	0.56103	0.66;0.48;0.82;0.53	5.8	5.8	0.92144	.	0.041719	0.85682	D	0.000000	T	0.68622	0.3021	M	0.66939	2.045	0.52501	D	0.999955	D;D;D;D;D	0.76494	0.976;0.999;0.998;0.998;0.991	P;D;D;D;P	0.80764	0.761;0.994;0.957;0.943;0.837	T	0.64529	-0.6386	10	0.16896	T	0.51	-20.8313	15.8076	0.78527	0.0:0.0:0.0:1.0	.	85;37;37;98;85	B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02	.;.;.;.;LRC34_HUMAN	D	98;85;37;98	ENSP00000414635:N98D;ENSP00000326150:N85D;ENSP00000429593:N37D;ENSP00000429278:N98D	ENSP00000326150:N85D	N	-	1	0	LRRC34	171008157	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	5.182000	0.65059	2.219000	0.72066	0.533000	0.62120	AAC		0.289	LRRC34-201	KNOWN	basic	protein_coding	protein_coding		NM_153353		14	23	0	0	0	0.007413	0	14	23				
TP63	8626	broad.mit.edu	37	3	189526191	189526191	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:189526191C>A	ENST00000264731.3	+	4	544	c.455C>A	c.(454-456)cCc>cAc	p.P152H	TP63_ENST00000392463.2_Missense_Mutation_p.P58H|TP63_ENST00000456148.1_Missense_Mutation_p.P58H|TP63_ENST00000440651.2_Missense_Mutation_p.P152H|TP63_ENST00000392460.3_Missense_Mutation_p.P152H|TP63_ENST00000449992.1_Intron|TP63_ENST00000418709.2_Missense_Mutation_p.P152H|TP63_ENST00000382063.4_Intron|TP63_ENST00000437221.1_Missense_Mutation_p.P58H|TP63_ENST00000354600.5_Missense_Mutation_p.P58H|TP63_ENST00000320472.5_Missense_Mutation_p.P152H|TP63_ENST00000392461.3_Missense_Mutation_p.P58H	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	152					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TACGCACAGCCCAGCTCCACC	0.622										HNSCC(45;0.13)																													uc003fry.2		NA																	0				skin(5)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	12						c.(454-456)CCC>CAC		tumor protein p63 isoform 1							210.0	146.0	168.0					3																	189526191		2203	4300	6503	SO:0001583	missense	8626	Hay-Wells_syndrome			anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:189526191C>A	AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.455C>A	3.37:g.189526191C>A	ENSP00000264731:p.Pro152His	HNSCC(45;0.13)				TP63_uc003frx.2_Missense_Mutation_p.P152H|TP63_uc003frz.2_Missense_Mutation_p.P152H|TP63_uc010hzc.1_Missense_Mutation_p.P152H|TP63_uc003fsa.2_Missense_Mutation_p.P58H|TP63_uc003fsb.2_Missense_Mutation_p.P58H|TP63_uc003fsc.2_Missense_Mutation_p.P58H|TP63_uc003fsd.2_Missense_Mutation_p.P58H|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.P33H	p.P152H	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)	4	544	+	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		152					O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	ENST00000264731.3	37	c.455C>A	CCDS3293.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.758030	0.89843	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000354600;ENST00000434928;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000456148	D;D;D;D;D;D;T;D;D;D;D	0.99709	-6.23;-6.46;-6.47;-6.48;-6.23;-6.22;-1.28;-6.42;-6.45;-6.44;-6.23	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.99459	0.9808	L	0.39898	1.24	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999;1.0;0.999;1.0	D	0.99581	1.0973	9	.	.	.	-8.1683	19.122	0.93367	0.0:1.0:0.0:0.0	.	152;152;58;58;58;58;152;152;152	Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;P63_HUMAN;.	H	152;152;152;152;152;58;58;58;58;58;58	ENSP00000264731:P152H;ENSP00000407144:P152H;ENSP00000317510:P152H;ENSP00000376253:P152H;ENSP00000394337:P152H;ENSP00000346614:P58H;ENSP00000401661:P58H;ENSP00000392488:P58H;ENSP00000376256:P58H;ENSP00000376254:P58H;ENSP00000389485:P58H	.	P	+	2	0	TP63	191008885	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.818000	0.86416	2.770000	0.95276	0.655000	0.94253	CCC		0.622	TP63-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000343865.1	NM_003722		17	53	1	0	0.00498961	0.00499	0.00550136	17	53				
CLDN1	9076	broad.mit.edu	37	3	190030679	190030679	+	Missense_Mutation	SNP	C	C	T	rs140846629	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:190030679C>T	ENST00000295522.3	-	2	638	c.370G>A	c.(370-372)Gcg>Acg	p.A124T		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	124					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|cell-cell junction organization (GO:0045216)|establishment of skin barrier (GO:0061436)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		AGAAATATCGCACCCCCAATG	0.458													C|||	7	0.00139776	0.0	0.0043	5008	,	,		19508	0.0		0.004	False		,,,				2504	0.0						uc003fsh.2		NA																	0				lung(1)	1						c.(370-372)GCG>ACG		claudin 1		C	THR/ALA	3,4403		0,3,2200	218.0	179.0	192.0		370	2.8	0.5	3	dbSNP_134	192	17,8583	5.0+/-18.6	0,17,4283	yes	missense	CLDN1	NM_021101.4	58	0,20,6483	TT,TC,CC		0.1977,0.0681,0.1538	benign	124/212	190030679	20,12986	2203	4300	6503	SO:0001583	missense	9076				calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:190030679C>T	AF101051	CCDS3295.1	3q28-q29	2008-07-18			ENSG00000163347	ENSG00000163347		"""Claudins"""	2032	protein-coding gene	gene with protein product	"""senescence-associated epithelial membrane protein 1"""	603718				10828592, 9892664	Standard	NM_021101		Approved	SEMP1, ILVASC	uc003fsh.3	O95832	OTTHUMG00000156214	ENST00000295522.3:c.370G>A	3.37:g.190030679C>T	ENSP00000295522:p.Ala124Thr						p.A124T	NM_021101	NP_066924	O95832	CLD1_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)	2	590	-	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		124			Helical; (Potential).			Missense_Mutation	SNP	ENST00000295522.3	37	c.370G>A	CCDS3295.1	6	0.0027472527472527475	0	0.0	3	0.008287292817679558	0	0.0	3	0.00395778364116095	C	16.00	2.999096	0.54147	6.81E-4	0.001977	ENSG00000163347	ENST00000295522;ENST00000545382	D	0.89050	-2.46	6.04	2.79	0.32731	.	0.336788	0.35124	N	0.003435	T	0.79257	0.4415	N	0.25332	0.735	0.19575	N	0.999961	P	0.36183	0.542	B	0.42462	0.388	T	0.74219	-0.3736	10	0.72032	D	0.01	.	9.4241	0.38570	0.0:0.7291:0.0:0.2709	.	124	O95832	CLD1_HUMAN	T	124;79	ENSP00000295522:A124T	ENSP00000295522:A124T	A	-	1	0	CLDN1	191513373	0.000000	0.05858	0.453000	0.27007	0.753000	0.42808	0.332000	0.19751	0.637000	0.30526	0.561000	0.74099	GCG		0.458	CLDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343516.2	NM_021101		25	94	0	0	0	0.00333	0	25	94				
CLDN16	10686	broad.mit.edu	37	3	190120208	190120208	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:190120208C>T	ENST00000264734.2	+	2	655	c.407C>T	c.(406-408)tCc>tTc	p.S136F	CLDN16_ENST00000456423.1_Intron|CLDN16_ENST00000468220.1_3'UTR	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	136					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GAGTACGATTCCATACTTGCG	0.483																																							uc003fsi.2		NA																	0				ovary(1)	1						c.(406-408)TCC>TTC		claudin 16							162.0	146.0	152.0					3																	190120208		2203	4300	6503	SO:0001583	missense	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190120208C>T	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.407C>T	3.37:g.190120208C>T	ENSP00000264734:p.Ser136Phe					CLDN16_uc010hze.2_Intron	p.S136F	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	2	475	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		136			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000264734.2	37	c.407C>T	CCDS3296.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124766	0.56613	.	.	ENSG00000113946	ENST00000264734	D	0.90385	-2.66	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95956	0.8683	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96131	0.9092	10	0.87932	D	0	-2.1948	18.879	0.92350	0.0:1.0:0.0:0.0	.	136	Q9Y5I7	CLD16_HUMAN	F	136	ENSP00000264734:S136F	ENSP00000264734:S136F	S	+	2	0	CLDN16	191602902	1.000000	0.71417	0.671000	0.29857	0.023000	0.10783	5.576000	0.67437	2.707000	0.92482	0.650000	0.86243	TCC		0.483	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		8	57	0	0	0	0.006214	0	8	57				
SENP5	205564	broad.mit.edu	37	3	196612328	196612328	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:196612328G>T	ENST00000323460.5	+	2	525	c.276G>T	c.(274-276)ttG>ttT	p.L92F	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.L92F	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	92					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TTAGTACTTTGTCCTCTAAAG	0.408																																					Ovarian(47;891 1095 11174 13858 51271)	Ovarian(47;891 1095 11174 13858 51271)	uc003fwz.3		NA																	0				breast(2)|lung(1)	3						c.(274-276)TTG>TTT		SUMO1/sentrin specific peptidase 5							80.0	77.0	78.0					3																	196612328		2203	4300	6503	SO:0001583	missense	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196612328G>T	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.276G>T	3.37:g.196612328G>T	ENSP00000327197:p.Leu92Phe					SENP5_uc011bty.1_Missense_Mutation_p.L92F	p.L92F	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	525	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		92					B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	c.276G>T	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	G	0.877	-0.730125	0.03135	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.31247	1.86;1.5	5.03	-3.41	0.04839	.	0.937810	0.08747	N	0.899659	T	0.14270	0.0345	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.28299	-1.0048	10	0.33940	T	0.23	-0.0572	0.1362	0.00078	0.2512:0.2372:0.2264:0.2852	.	92;92	B4DY82;Q96HI0	.;SENP5_HUMAN	F	92	ENSP00000327197:L92F;ENSP00000390231:L92F	ENSP00000327197:L92F	L	+	3	2	SENP5	198096725	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.509000	0.06336	-0.437000	0.07243	-0.126000	0.14955	TTG		0.408	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		11	39	1	0	2.68362e-12	0.013537	4.75858e-12	11	39				
FYTTD1	84248	broad.mit.edu	37	3	197483313	197483313	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr3:197483313G>C	ENST00000241502.4	+	2	342	c.120G>C	c.(118-120)ttG>ttC	p.L40F	FYTTD1_ENST00000428395.2_5'UTR|FYTTD1_ENST00000415708.2_Missense_Mutation_p.L14F|FYTTD1_ENST00000424384.2_5'UTR	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	40					mRNA export from nucleus (GO:0006406)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		TCATCAAGTTGAATCGAAAGG	0.383																																							uc003fyi.2		NA																	0					0						c.(118-120)TTG>TTC		forty-two-three domain containing 1 isoform 1							80.0	81.0	80.0					3																	197483313		2203	4300	6503	SO:0001583	missense	84248				mRNA export from nucleus	nuclear speck	mRNA binding|protein binding	g.chr3:197483313G>C	AJ344094	CCDS3329.1, CCDS43196.1, CCDS43196.2	3q29	2011-03-03			ENSG00000122068	ENSG00000122068			25407	protein-coding gene	gene with protein product	"""UAP56-interacting factor"""					19836239	Standard	NM_001011537		Approved	DKFZp761B1514, UIF	uc003fyi.2	Q96QD9	OTTHUMG00000155453	ENST00000241502.4:c.120G>C	3.37:g.197483313G>C	ENSP00000241502:p.Leu40Phe					FYTTD1_uc011bui.1_Missense_Mutation_p.L14F|FYTTD1_uc011buj.1_RNA|FYTTD1_uc011buk.1_5'UTR	p.L40F	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)	2	339	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	40			UAP56-binding motif.		A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8	Missense_Mutation	SNP	ENST00000241502.4	37	c.120G>C	CCDS3329.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176025	0.57692	.	.	ENSG00000122068	ENST00000415708;ENST00000241502	T;T	0.57752	0.38;0.38	5.34	3.55	0.40652	.	0.000000	0.64402	D	0.000001	T	0.66597	0.2805	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.996;0.999	T	0.66324	-0.5952	10	0.66056	D	0.02	-5.4839	8.5046	0.33179	0.179:0.0:0.821:0.0	.	14;40	Q96QD9-2;Q96QD9	.;UIF_HUMAN	F	14;40	ENSP00000393746:L14F;ENSP00000241502:L40F	ENSP00000241502:L40F	L	+	3	2	FYTTD1	198967710	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	2.201000	0.42734	0.758000	0.33059	-0.266000	0.10368	TTG		0.383	FYTTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340185.3	NM_032288		5	20	0	0	0	0.000602	0	5	20				
HGFAC	3083	broad.mit.edu	37	4	3444599	3444599	+	Silent	SNP	G	G	A	rs140087184	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:3444599G>A	ENST00000382774.3	+	2	373	c.258G>A	c.(256-258)ccG>ccA	p.P86P	HGFAC_ENST00000511533.1_Silent_p.P86P	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	86					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCCGCCCCCGCCCAGGGCAG	0.667													G|||	12	0.00239617	0.0068	0.0043	5008	,	,		15066	0.0		0.0	False		,,,				2504	0.0						uc003ghc.2		NA																	0				central_nervous_system(2)	2						c.(256-258)CCG>CCA		HGF activator preproprotein		G		11,4389	16.8+/-37.8	0,11,2189	36.0	43.0	41.0		258	-0.2	0.0	4	dbSNP_134	41	0,8598		0,0,4299	no	coding-synonymous	HGFAC	NM_001528.2		0,11,6488	AA,AG,GG		0.0,0.25,0.0846		86/656	3444599	11,12987	2200	4299	6499	SO:0001819	synonymous_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3444599G>A	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.258G>A	4.37:g.3444599G>A						HGFAC_uc010icw.2_Silent_p.P86P	p.P86P	NM_001528	NP_001519	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	2	261	+			86					Q14726|Q2M1W7|Q53X47	Silent	SNP	ENST00000382774.3	37	c.258G>A	CCDS3369.1																																																																																				0.667	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			12	22	0	0	0	0.001855	0	12	22				
OTOP1	133060	broad.mit.edu	37	4	4199745	4199745	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:4199745G>T	ENST00000296358.4	-	5	840	c.816C>A	c.(814-816)ccC>ccA	p.P272P		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	272					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTATGTTGAAGGGGTAGAGGT	0.532																																							uc003ghp.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(814-816)CCC>CCA		otopetrin 1							75.0	64.0	68.0					4																	4199745		2203	4300	6503	SO:0001819	synonymous_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199745G>T	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.816C>A	4.37:g.4199745G>T							p.P272P	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	846	-			272			Helical; (Potential).		A1L476	Silent	SNP	ENST00000296358.4	37	c.816C>A	CCDS3372.1																																																																																				0.532	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		9	36	1	0	1.76689e-08	0.006214	2.74407e-08	9	36				
KIAA0232	9778	broad.mit.edu	37	4	6865538	6865538	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:6865538A>G	ENST00000307659.5	+	7	3884	c.3429A>G	c.(3427-3429)atA>atG	p.I1143M	KIAA0232_ENST00000425103.1_Missense_Mutation_p.I1143M	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1143							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AAGTTGATATATTTGAAGATC	0.418																																							uc003gjr.3		NA																	0				ovary(2)	2						c.(3427-3429)ATA>ATG		hypothetical protein LOC9778							72.0	68.0	69.0					4																	6865538		1843	4087	5930	SO:0001583	missense	9778						ATP binding	g.chr4:6865538A>G	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3429A>G	4.37:g.6865538A>G	ENSP00000303928:p.Ile1143Met					KIAA0232_uc003gjq.3_Missense_Mutation_p.I1143M	p.I1143M	NM_014743	NP_055558	Q92628	K0232_HUMAN			7	3892	+			1143					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.3429A>G	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.623271	0.28889	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	4.9	-7.4	0.01397	.	0.471951	0.21718	N	0.070163	T	0.18257	0.0438	N	0.08118	0	0.09310	N	0.999991	B	0.18310	0.027	B	0.20384	0.029	T	0.16217	-1.0410	9	0.72032	D	0.01	-21.4031	11.5981	0.50986	0.1165:0.3425:0.541:0.0	.	1143	Q92628	K0232_HUMAN	M	1143	.	ENSP00000303928:I1143M	I	+	3	3	KIAA0232	6916439	0.981000	0.34729	0.026000	0.17262	0.610000	0.37248	0.148000	0.16224	-0.973000	0.03555	0.533000	0.62120	ATA		0.418	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		9	24	0	0	0	0.006214	0	9	24				
BOD1L1	259282	broad.mit.edu	37	4	13601510	13601510	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:13601510C>A	ENST00000040738.5	-	10	7149	c.7014G>T	c.(7012-7014)atG>atT	p.M2338I		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2338						nucleus (GO:0005634)	DNA binding (GO:0003677)										CGGAAATTGGCATACATTCTG	0.512																																							uc003gmz.1		NA																	0				ovary(5)|breast(1)	6						c.(7012-7014)ATG>ATT		biorientation of chromosomes in cell division							131.0	98.0	109.0					4																	13601510		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13601510C>A	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.7014G>T	4.37:g.13601510C>A	ENSP00000040738:p.Met2338Ile					BOD1L_uc010idr.1_Missense_Mutation_p.M1675I	p.M2338I	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	7131	-			2338					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.7014G>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	6.000	0.368440	0.11352	.	.	ENSG00000038219	ENST00000040738	T	0.05513	3.43	5.37	2.28	0.28536	.	0.996321	0.08129	N	0.993535	T	0.03695	0.0105	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47935	-0.9078	10	0.14252	T	0.57	-0.0204	4.9934	0.14226	0.1604:0.5674:0.0:0.2722	.	2338	Q8NFC6	BOD1L_HUMAN	I	2338	ENSP00000040738:M2338I	ENSP00000040738:M2338I	M	-	3	0	BOD1L	13210608	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.018000	0.13422	0.665000	0.31066	-0.766000	0.03442	ATG		0.512	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		3	9	1	0	0.004672	0.004672	0.00515945	3	9				
GBA3	57733	broad.mit.edu	37	4	22749528	22749528	+	RNA	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:22749528G>C	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATGATCAAAGGCACTGCTGAT	0.408																																							uc003gqp.3		NA																	0					0						c.(895-897)GGC>GCC		cytosolic beta-glucosidase isoform a							55.0	54.0	54.0					4																	22749528		1841	4101	5942			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22749528G>C	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749528G>C						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.G300A	p.G299A	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	987	+			299					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.896G>C																																																																																					0.408	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			3	15	0	0	0	0.009096	0	3	15				
ATP10D	57205	broad.mit.edu	37	4	47514733	47514733	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:47514733C>T	ENST00000273859.3	+	2	445	c.176C>T	c.(175-177)cCc>cTc	p.P59L	ATP10D_ENST00000504445.1_Missense_Mutation_p.P59L	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	59					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CACATCCAGCCCTTCAAGGAT	0.473																																							uc003gxk.1		NA																	0				ovary(2)|pancreas(1)	3						c.(175-177)CCC>CTC		ATPase, class V, type 10D							88.0	85.0	86.0					4																	47514733		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47514733C>T	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.176C>T	4.37:g.47514733C>T	ENSP00000273859:p.Pro59Leu					ATP10D_uc003gxj.3_Missense_Mutation_p.P59L	p.P59L	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			2	340	+			59			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.176C>T	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	1.280	-0.610629	0.03690	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	D;D	0.85629	-2.01;-2.01	5.1	-0.922	0.10468	.	0.744625	0.13115	N	0.412671	T	0.67297	0.2878	N	0.20986	0.625	0.27231	N	0.959395	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.50118	-0.8865	10	0.11485	T	0.65	-0.3356	3.4947	0.07650	0.3981:0.1847:0.3369:0.0803	.	59;59	Q9P241;Q6PEW3	AT10D_HUMAN;.	L	59	ENSP00000273859:P59L;ENSP00000420909:P59L	ENSP00000273859:P59L	P	+	2	0	ATP10D	47209490	0.000000	0.05858	0.111000	0.21465	0.046000	0.14306	0.023000	0.13533	-0.039000	0.13602	0.557000	0.71058	CCC		0.473	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		11	28	0	0	0	0.013537	0	11	28				
SPATA18	132671	broad.mit.edu	37	4	52943004	52943004	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:52943004G>C	ENST00000295213.4	+	7	1192	c.818G>C	c.(817-819)aGa>aCa	p.R273T	SPATA18_ENST00000419395.2_Missense_Mutation_p.R241T	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	273	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGCCGCAGCAGATCTGCCAGC	0.632																																							uc003gzl.2		NA																	0				ovary(2)|skin(2)	4						c.(817-819)AGA>ACA		spermatogenesis associated 18 homolog							40.0	38.0	39.0					4																	52943004		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52943004G>C	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.818G>C	4.37:g.52943004G>C	ENSP00000295213:p.Arg273Thr					SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.R241T|SPATA18_uc003gzk.1_Missense_Mutation_p.R273T	p.R273T	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		7	1096	+			273			Ser-rich.		B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.818G>C	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	9.464	1.093879	0.20471	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.20881	2.04;2.94	4.25	3.39	0.38822	.	0.552403	0.17081	N	0.187767	T	0.27798	0.0684	M	0.75264	2.295	0.38880	D	0.956898	P;P;P	0.42409	0.621;0.621;0.779	B;B;B	0.41332	0.354;0.249;0.295	T	0.19386	-1.0307	10	0.48119	T	0.1	-4.2447	12.3323	0.55046	0.0:0.1729:0.8271:0.0	.	241;273;273	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	T	273;241	ENSP00000295213:R273T;ENSP00000415309:R241T	ENSP00000295213:R273T	R	+	2	0	SPATA18	52637761	1.000000	0.71417	0.031000	0.17742	0.125000	0.20455	7.796000	0.85898	1.050000	0.40346	0.313000	0.20887	AGA		0.632	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		4	25	0	0	0	0.009096	0	4	25				
FIP1L1	81608	broad.mit.edu	37	4	54319267	54319267	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:54319267G>T	ENST00000337488.6	+	16	1660	c.1466G>T	c.(1465-1467)cGt>cTt	p.R489L	FIP1L1_ENST00000306932.6_Missense_Mutation_p.R415L|FIP1L1_ENST00000358575.5_Missense_Mutation_p.R483L|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	489	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GAGAGGGAGCGTGATCACAGT	0.438			T	PDGFRA	idiopathic hypereosinophilic syndrome																																		uc003gzy.2		NA		Dom	yes		4	4q12	81608	T	FIP1 like 1 (S. cerevisiae)			L	PDGFRA		idiopathic hypereosinophilic syndrome		0				ovary(1)|skin(1)	2						c.(1465-1467)CGT>CTT		FIP1 like 1 isoform 1							73.0	63.0	67.0					4																	54319267		2203	4300	6503	SO:0001583	missense	81608				mRNA processing	nucleus	RNA binding	g.chr4:54319267G>T	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1466G>T	4.37:g.54319267G>T	ENSP00000336752:p.Arg489Leu					PDGFRA_uc003haa.2_Intron|FIP1L1_uc011bzu.1_Missense_Mutation_p.R483L|FIP1L1_uc003gzz.2_Missense_Mutation_p.R415L|FIP1L1_uc003hab.2_Missense_Mutation_p.R454L|FIP1L1_uc003hac.2_Missense_Mutation_p.R243L|FIP1L1_uc010ign.2_RNA|FIP1L1_uc003had.2_Missense_Mutation_p.V74L|FIP1L1_uc003hae.2_Missense_Mutation_p.V74L	p.R489L	NM_030917	NP_112179	Q6UN15	FIP1_HUMAN	GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)		16	1652	+			489			Arg-rich.|Sufficient for interaction with CPSF1 and CSTF3.|Glu-rich.		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	c.1466G>T	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864699	0.91511	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000306932;ENST00000504094	T;T;T	0.12774	2.65;2.65;2.65	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000006	T	0.35885	0.0947	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.63046	0.992;0.987;0.992;0.987	D;D;D;D	0.70487	0.969;0.931;0.969;0.953	T	0.03413	-1.1039	10	0.87932	D	0	-13.7606	18.9868	0.92773	0.0:0.0:1.0:0.0	.	483;483;415;489	G3XAD6;B4DIR3;Q6UN15-3;Q6UN15	.;.;.;FIP1_HUMAN	L	489;483;415;146	ENSP00000336752:R489L;ENSP00000351383:R483L;ENSP00000302993:R415L	ENSP00000302993:R415L	R	+	2	0	FIP1L1	54014024	1.000000	0.71417	0.963000	0.40424	0.914000	0.54420	7.484000	0.81180	2.641000	0.89580	0.655000	0.94253	CGT		0.438	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917		8	21	1	0	0.00621372	0.006214	0.00680738	8	21				
KDR	3791	broad.mit.edu	37	4	55979605	55979605	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:55979605G>T	ENST00000263923.4	-	7	1137	c.842C>A	c.(841-843)tCt>tAt	p.S281Y		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	281	Ig-like C2-type 3.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCACTCCCAGACTGGGTTTT	0.423			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													uc003has.2		NA		Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		0				lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(841-843)TCT>TAT		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						132.0	127.0	129.0					4																	55979605		2203	4300	6503	SO:0001583	missense	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55979605G>T	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.842C>A	4.37:g.55979605G>T	ENSP00000263923:p.Ser281Tyr	TSP Lung(20;0.16)				KDR_uc003hat.1_Missense_Mutation_p.S281Y|KDR_uc011bzx.1_Missense_Mutation_p.S281Y	p.S281Y	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		7	1144	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		281			Ig-like C2-type 3.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.842C>A	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	9.597	1.127686	0.20959	.	.	ENSG00000128052	ENST00000263923	T	0.68479	-0.33	5.47	2.71	0.32032	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.793580	0.11883	N	0.520323	T	0.41488	0.1161	N	0.14661	0.345	0.09310	N	1	B;B	0.26081	0.141;0.074	B;B	0.28011	0.028;0.085	T	0.36359	-0.9751	10	0.02654	T	1	.	5.3756	0.16164	0.151:0.0:0.5694:0.2796	.	281;281	P35968-2;P35968	.;VGFR2_HUMAN	Y	281	ENSP00000263923:S281Y	ENSP00000263923:S281Y	S	-	2	0	KDR	55674362	0.026000	0.19158	0.013000	0.15412	0.680000	0.39746	1.686000	0.37669	0.624000	0.30286	0.563000	0.77884	TCT		0.423	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			7	35	1	0	8.12818e-05	0.001984	0.000102047	7	35				
LPHN3	23284	broad.mit.edu	37	4	62903549	62903549	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:62903549C>A	ENST00000514591.1	+	23	3817	c.3488C>A	c.(3487-3489)cCt>cAt	p.P1163H	LPHN3_ENST00000507164.1_Missense_Mutation_p.P1222H|LPHN3_ENST00000506700.1_Missense_Mutation_p.P1154H|LPHN3_ENST00000509896.1_Missense_Mutation_p.P1231H|LPHN3_ENST00000504896.1_Missense_Mutation_p.P1163H|LPHN3_ENST00000507625.1_Missense_Mutation_p.P1222H|LPHN3_ENST00000512091.2_Missense_Mutation_p.P1163H|LPHN3_ENST00000508693.1_Missense_Mutation_p.P1231H|LPHN3_ENST00000514996.1_Missense_Mutation_p.P1154H|LPHN3_ENST00000508946.1_Missense_Mutation_p.P1163H|LPHN3_ENST00000506746.1_Missense_Mutation_p.P1222H|LPHN3_ENST00000511324.1_Missense_Mutation_p.P1222H|LPHN3_ENST00000545650.1_Missense_Mutation_p.P1163H|LPHN3_ENST00000514157.1_Missense_Mutation_p.P1154H|LPHN3_ENST00000506720.1_Missense_Mutation_p.P1231H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1141					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCTCGAACTCCTGGACGCTAC	0.418																																							uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(3487-3489)CCT>CAT		latrophilin 3 precursor							113.0	114.0	114.0					4																	62903549		1991	4175	6166	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62903549C>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3488C>A	4.37:g.62903549C>A	ENSP00000422533:p.Pro1163His					LPHN3_uc003hcq.3_Missense_Mutation_p.P1163H|LPHN3_uc003hct.2_Missense_Mutation_p.P547H	p.P1163H	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			21	3661	+			1141			Cytoplasmic (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.3488C>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120243	0.77323	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71222	-0.5;-0.53;-0.53;-0.52;-0.5;-0.53;-0.54;-0.53;-0.55;-0.51;-0.51;-0.53;-0.54;-0.55;-0.53	5.33	5.33	0.75918	GPCR, family 2, latrophilin, C-terminal (1);	0.115379	0.64402	D	0.000011	T	0.79639	0.4480	L	0.47716	1.5	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.80185	-0.1487	10	0.59425	D	0.04	.	14.9325	0.70926	0.0:0.8573:0.1427:0.0	.	1163;1141;1163	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	H	1163;1163;1231;1222;1154;1163;1141;1163;1222;1231;1222;1154;1163;1163;1231;1222;1154	ENSP00000423388:P1163H;ENSP00000422533:P1163H;ENSP00000423787:P1231H;ENSP00000425033:P1222H;ENSP00000424120:P1154H;ENSP00000439831:P1163H;ENSP00000421476:P1222H;ENSP00000424030:P1231H;ENSP00000421372:P1222H;ENSP00000425201:P1154H;ENSP00000423434:P1163H;ENSP00000421627:P1163H;ENSP00000420931:P1231H;ENSP00000425884:P1222H;ENSP00000424258:P1154H	ENSP00000280009:P1163H	P	+	2	0	LPHN3	62586144	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.661000	0.54503	2.653000	0.90120	0.650000	0.86243	CCT		0.418	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			7	50	1	0	8.12818e-05	0.001984	0.000102047	7	50				
UGT2A3	79799	broad.mit.edu	37	4	69795685	69795685	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:69795685G>C	ENST00000251566.4	-	6	1460	c.1430C>G	c.(1429-1431)gCt>gGt	p.A477G	UGT2A3_ENST00000420231.2_Missense_Mutation_p.A188G	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	477					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTCATGGGCAGCTGATCGCAG	0.483																																							uc003hef.2		NA																	0				ovary(1)|skin(1)	2						c.(1429-1431)GCT>GGT		UDP glucuronosyltransferase 2 family,							83.0	82.0	83.0					4																	69795685		2203	4300	6503	SO:0001583	missense	79799					integral to membrane	glucuronosyltransferase activity	g.chr4:69795685G>C		CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.1430C>G	4.37:g.69795685G>C	ENSP00000251566:p.Ala477Gly					UGT2A3_uc010ihp.1_RNA	p.A477G	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN			6	1461	-			477			Extracellular (Potential).		Q9H6S4	Missense_Mutation	SNP	ENST00000251566.4	37	c.1430C>G	CCDS3525.1	.	.	.	.	.	.	.	.	.	.	G	8.903	0.956858	0.18507	.	.	ENSG00000135220	ENST00000251566;ENST00000420231	T;T	0.61980	0.06;0.06	2.22	1.34	0.21922	.	0.267128	0.36482	N	0.002564	T	0.78654	0.4317	M	0.91459	3.21	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.67473	-0.5662	10	0.87932	D	0	.	6.3908	0.21585	0.1678:0.0:0.8322:0.0	.	477	Q6UWM9	UD2A3_HUMAN	G	477;188	ENSP00000251566:A477G;ENSP00000440115:A188G	ENSP00000251566:A477G	A	-	2	0	UGT2A3	69830274	0.984000	0.35163	0.001000	0.08648	0.003000	0.03518	5.486000	0.66856	0.267000	0.21916	0.491000	0.48974	GCT		0.483	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743		32	72	0	0	0	0.012213	0	32	72				
UGT2B27P	54569	broad.mit.edu	37	4	69879852	69879852	+	IGR	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:69879852C>G								UGT2A3 (62343 upstream) : UGT2B7 (37341 downstream)																							CTCCAGAGCTCTGTACAAACT	0.418																																						Melanoma(133;755 1763 25578 26334 46021)	uc011cao.1		NA																	0				skin(3)|ovary(2)	5						c.(775-777)CAG>CAC		RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;							163.0	119.0	132.0					4																	69879852		692	1591	2283	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69879852C>G																													4.37:g.69879852C>G						UGT2B10_uc011can.1_Missense_Mutation_p.Q175H	p.Q259H			P36537	UDB10_HUMAN			6	913	-			296						Missense_Mutation	SNP		37	c.777G>C																																																																																				0	0.418									20	93	0	0	0	0.008871	0	20	93				
SLC4A4	8671	broad.mit.edu	37	4	72316219	72316219	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:72316219T>A	ENST00000264485.5	+	10	1284	c.1167T>A	c.(1165-1167)atT>atA	p.I389I	SLC4A4_ENST00000340595.3_Silent_p.I345I|SLC4A4_ENST00000351898.6_Silent_p.I389I|SLC4A4_ENST00000425175.1_Silent_p.I389I|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Silent_p.I345I	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	389					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	ATCCAGCAATTAGGATAGAGC	0.433																																							uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(1165-1167)ATT>ATA		solute carrier family 4, sodium bicarbonate							76.0	71.0	73.0					4																	72316219		2203	4300	6503	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72316219T>A	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1167T>A	4.37:g.72316219T>A						SLC4A4_uc010iic.2_Silent_p.I389I|SLC4A4_uc010iib.2_Silent_p.I389I|SLC4A4_uc003hfz.2_Silent_p.I389I|SLC4A4_uc003hgc.3_Silent_p.I345I|SLC4A4_uc010iid.2_5'UTR|SLC4A4_uc003hga.2_Silent_p.I267I|SLC4A4_uc003hgb.3_Silent_p.I345I	p.I389I	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		10	1284	+			389			Cytoplasmic (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.1167T>A	CCDS43236.1																																																																																				0.433	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		5	19	0	0	0	0.001168	0	5	19				
RASSF6	166824	broad.mit.edu	37	4	74453587	74453587	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:74453587G>C	ENST00000342081.3	-	5	578	c.448C>G	c.(448-450)Cct>Gct	p.P150A	RASSF6_ENST00000307439.5_Missense_Mutation_p.P118A|RASSF6_ENST00000335049.5_Missense_Mutation_p.P106A|RASSF6_ENST00000395777.2_Missense_Mutation_p.P118A	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	150					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCAGACATAGGAATCTGGGTC	0.373																																							uc003hhd.1		NA																	0				pancreas(2)	2						c.(448-450)CCT>GCT		Ras association (RalGDS/AF-6) domain family 6							91.0	94.0	93.0					4																	74453587		2203	4300	6503	SO:0001583	missense	166824				apoptosis|signal transduction		protein binding	g.chr4:74453587G>C	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.448C>G	4.37:g.74453587G>C	ENSP00000340578:p.Pro150Ala					RASSF6_uc003hhc.1_Missense_Mutation_p.P118A|RASSF6_uc010iik.1_Missense_Mutation_p.P118A|RASSF6_uc010iil.1_Missense_Mutation_p.P106A	p.P150A	NM_201431	NP_958834	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		5	571	-	Breast(15;0.00102)		150					Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Missense_Mutation	SNP	ENST00000342081.3	37	c.448C>G	CCDS3558.1	.	.	.	.	.	.	.	.	.	.	G	5.817	0.334972	0.11013	.	.	ENSG00000169435	ENST00000307439;ENST00000342081;ENST00000395777;ENST00000335049	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.58	1.51	0.23008	.	0.891913	0.10010	N	0.727301	T	0.21062	0.0507	L	0.31065	0.9	0.09310	N	1	B;B;B	0.13145	0.001;0.003;0.007	B;B;B	0.11329	0.002;0.006;0.006	T	0.20107	-1.0285	10	0.25106	T	0.35	-2.0702	1.9724	0.03409	0.1535:0.3237:0.356:0.1669	.	106;118;150	Q6ZTQ3-3;Q6ZTQ3-4;Q6ZTQ3	.;.;RASF6_HUMAN	A	118;150;118;106	ENSP00000303877:P118A;ENSP00000340578:P150A;ENSP00000379123:P118A;ENSP00000335582:P106A	ENSP00000303877:P118A	P	-	1	0	RASSF6	74672451	0.100000	0.21855	0.455000	0.27031	0.320000	0.28249	0.528000	0.23002	1.327000	0.45338	0.585000	0.79938	CCT		0.373	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532		11	33	0	0	0	0.013537	0	11	33				
G3BP2	9908	broad.mit.edu	37	4	76581018	76581018	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:76581018C>A	ENST00000359707.4	-	6	1264	c.479G>T	c.(478-480)aGa>aTa	p.R160I	G3BP2_ENST00000502654.1_5'Flank|G3BP2_ENST00000357854.3_Missense_Mutation_p.R160I|G3BP2_ENST00000395719.3_Missense_Mutation_p.R160I	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	160	Glu-rich.				cytoplasmic sequestering of NF-kappaB (GO:0007253)|mRNA transport (GO:0051028)|Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|receptor signaling complex scaffold activity (GO:0030159)			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGATGGTTGTCTTTCTTCTTG	0.363																																							uc003hir.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(478-480)AGA>ATA		Ras-GTPase activating protein SH3 domain-binding							282.0	237.0	252.0					4																	76581018		2203	4300	6503	SO:0001583	missense	9908				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding	g.chr4:76581018C>A	AB014560	CCDS3571.1, CCDS3572.1	4q21.1	2013-02-12	2006-11-01		ENSG00000138757	ENSG00000138757		"""RNA binding motif (RRM) containing"""	30291	protein-coding gene	gene with protein product	"""Ras-GTPase activating protein SH3 domain-binding protein 2"""					9734811, 9575347	Standard	NM_203504		Approved	KIAA0660	uc003his.3	Q9UN86	OTTHUMG00000130097	ENST00000359707.4:c.479G>T	4.37:g.76581018C>A	ENSP00000352738:p.Arg160Ile					G3BP2_uc003his.2_Missense_Mutation_p.R160I|G3BP2_uc003hit.2_Missense_Mutation_p.R160I	p.R160I	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		6	644	-			160			Glu-rich.		A8K6X1|O60606|O75149|Q9UPA1	Missense_Mutation	SNP	ENST00000359707.4	37	c.479G>T	CCDS3571.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481096	0.84747	.	.	ENSG00000138757	ENST00000395719;ENST00000359707;ENST00000357854;ENST00000503660	T;T;T	0.77877	-1.12;-1.12;-1.13	6.17	6.17	0.99709	.	0.040864	0.85682	D	0.000000	D	0.87192	0.6116	M	0.61703	1.905	0.80722	D	1	D;B	0.69078	0.997;0.0	D;B	0.78314	0.991;0.002	D	0.83443	0.0044	10	0.33940	T	0.23	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	160;160	Q9UN86-2;Q9UN86	.;G3BP2_HUMAN	I	160	ENSP00000379069:R160I;ENSP00000352738:R160I;ENSP00000350518:R160I	ENSP00000350518:R160I	R	-	2	0	G3BP2	76800042	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.288000	0.59007	2.941000	0.99782	0.655000	0.94253	AGA		0.363	G3BP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252399.2	NM_012297		9	36	1	0	0.00621372	0.006214	0.00680738	9	36				
FRAS1	80144	broad.mit.edu	37	4	79205600	79205600	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:79205600G>C	ENST00000325942.6	+	13	1737	c.1297G>C	c.(1297-1299)Gac>Cac	p.D433H	FRAS1_ENST00000264899.6_Missense_Mutation_p.D433H|FRAS1_ENST00000264895.6_Missense_Mutation_p.D433H	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	433					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCAGTCTCCAGACCACTGTGA	0.458																																							uc003hlb.2		NA																	0				large_intestine(5)	5						c.(1297-1299)GAC>CAC		Fraser syndrome 1							335.0	332.0	333.0					4																	79205600		2041	4204	6245	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79205600G>C	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.1297G>C	4.37:g.79205600G>C	ENSP00000326330:p.Asp433His					FRAS1_uc003hkw.2_Missense_Mutation_p.D433H|FRAS1_uc003hky.1_Missense_Mutation_p.D137H|FRAS1_uc003hkz.2_Missense_Mutation_p.D137H|FRAS1_uc003hla.1_5'Flank	p.D433H	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			13	1737	+			433			FU 1.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.1297G>C	CCDS54772.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.38|17.38|17.38	3.375646|3.375646|3.375646	0.61735|0.61735|0.61735	.|.|.	.|.|.	ENSG00000138759|ENSG00000138759|ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000264899;ENST00000534913|ENST00000502446|ENST00000508900	T;T;T|.|.	0.50277|.|.	0.75;0.75;0.75|.|.	5.43|5.43|5.43	4.59|4.59|4.59	0.56863|0.56863|0.56863	Growth factor, receptor (1);|.|.	0.251620|.|.	0.37053|.|.	N|.|.	0.002262|.|.	T|T|T	0.69726|0.69726|0.69726	0.3143|0.3143|0.3143	M|M|M	0.62154|0.62154|0.62154	1.92|1.92|1.92	0.50313|0.50313|0.50313	D|D|D	0.999864|0.999864|0.999864	P;P;D;D|.|.	0.63880|.|.	0.92;0.955;0.977;0.993|.|.	P;P;P;D|.|.	0.63033|.|.	0.708;0.541;0.717;0.91|.|.	T|T|T	0.68693|0.68693|0.68693	-0.5341|-0.5341|-0.5341	10|5|5	0.52906|.|.	T|.|.	0.07|.|.	.|.|.	13.9341|13.9341|13.9341	0.64015|0.64015|0.64015	0.0729:0.0:0.9271:0.0|0.0729:0.0:0.9271:0.0|0.0729:0.0:0.9271:0.0	.|.|.	433;433;433;433|.|.	E9PHH6;Q86XX4;E7EWM9;A2RRR8|.|.	.;FRAS1_HUMAN;.;.|.|.	H|H|T	433;433;433;173|361|275	ENSP00000326330:D433H;ENSP00000264895:D433H;ENSP00000264899:D433H|.|.	ENSP00000264895:D433H|.|.	D|Q|R	+|+|+	1|3|2	0|2|0	FRAS1|FRAS1|FRAS1	79424624|79424624|79424624	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.993000|0.993000|0.993000	0.49108|0.49108|0.49108	0.721000|0.721000|0.721000	0.41392|0.41392|0.41392	4.567000|4.567000|4.567000	0.60850|0.60850|0.60850	1.280000|1.280000|1.280000	0.44463|0.44463|0.44463	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAC|CAG|AGA		0.458	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			47	143	0	0	0	0.01441	0	47	143				
FRAS1	80144	broad.mit.edu	37	4	79396752	79396752	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:79396752G>T	ENST00000264895.6	+	54	8283	c.7843G>T	c.(7843-7845)Gct>Tct	p.A2615S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2611	Calx-beta 1.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTAGAGTATGCTGGCCAGGT	0.577																																							uc003hlb.2		NA																	0				large_intestine(5)	5						c.(7843-7845)GCT>TCT		Fraser syndrome 1							70.0	78.0	75.0					4																	79396752		1987	4163	6150	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79396752G>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7843G>T	4.37:g.79396752G>T	ENSP00000264895:p.Ala2615Ser						p.A2615S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			54	8283	+			2610			Calx-beta 1.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.7843G>T	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.480557|4.480557	0.84747|0.84747	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.22134|.	1.97|.	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48840|0.48840	0.1522|0.1522	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	D|.	0.58970|.	0.984|.	D|.	0.64877|.	0.93|.	T|T	0.43734|0.43734	-0.9373|-0.9373	10|5	0.30078|.	T|.	0.28|.	.|.	18.3211|18.3211	0.90238|0.90238	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2615|.	E9PHH6|.	.|.	S|F	2615|843	ENSP00000264895:A2615S|.	ENSP00000264895:A2615S|.	A|C	+|+	1|2	0|0	FRAS1|FRAS1	79615776|79615776	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.881000|0.881000	0.50899|0.50899	9.515000|9.515000	0.98015|0.98015	2.558000|2.558000	0.86282|0.86282	0.591000|0.591000	0.81541|0.81541	GCT|TGC		0.577	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				24	46	1	0	3.96558e-24	0.004656	7.84e-24	24	46				
UNC5C	8633	broad.mit.edu	37	4	96091391	96091391	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:96091391G>T	ENST00000453304.1	-	15	2892	c.2544C>A	c.(2542-2544)atC>atA	p.I848I		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	848					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCTTCTGCCGGATAGGGAGAG	0.592																																							uc003htp.1		NA																	0				ovary(3)|pancreas(1)	4						c.(2542-2544)ATC>ATA		unc5C precursor							165.0	161.0	162.0					4																	96091391		2203	4300	6503	SO:0001819	synonymous_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96091391G>T	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2544C>A	4.37:g.96091391G>T						uc003hto.2_5'Flank	p.I848I	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	15	2698	-		Hepatocellular(203;0.114)	848			Cytoplasmic (Potential).		Q8IUT0	Silent	SNP	ENST00000453304.1	37	c.2544C>A	CCDS3643.1																																																																																				0.592	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		35	99	1	0	1.47244e-24	0.00623	2.92787e-24	35	99				
PDHA2	5161	broad.mit.edu	37	4	96761915	96761915	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:96761915C>A	ENST00000295266.4	+	1	677	c.614C>A	c.(613-615)gCt>gAt	p.A205D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	205					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ATAGCCGAAGCTTTCAATATG	0.458																																							uc003htr.3		NA																	0				central_nervous_system(1)	1						c.(613-615)GCT>GAT		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						57.0	62.0	60.0					4																	96761915		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761915C>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.614C>A	4.37:g.96761915C>A	ENSP00000295266:p.Ala205Asp						p.A205D	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	677	+		Hepatocellular(203;0.114)	205					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.614C>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.720966	0.68959	.	.	ENSG00000163114	ENST00000295266	D	0.96774	-4.12	4.67	3.82	0.43975	Dehydrogenase, E1 component (1);	0.106801	0.64402	D	0.000007	D	0.98235	0.9416	H	0.96970	3.915	0.38517	D	0.948632	D	0.60575	0.988	P	0.58210	0.835	D	0.99675	1.0997	10	0.87932	D	0	-5.3722	10.6573	0.45682	0.0:0.9058:0.0:0.0942	.	205	P29803	ODPAT_HUMAN	D	205	ENSP00000295266:A205D	ENSP00000295266:A205D	A	+	2	0	PDHA2	96980938	0.945000	0.32115	0.262000	0.24481	0.971000	0.66376	4.109000	0.57824	1.324000	0.45282	0.467000	0.42956	GCT		0.458	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			10	41	1	0	7.48243e-07	0.006214	1.07248e-06	10	41				
ADH1B	125	broad.mit.edu	37	4	100237122	100237122	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:100237122A>T	ENST00000305046.8	-	5	567	c.500T>A	c.(499-501)cTg>cAg	p.L167Q	ADH1B_ENST00000504498.1_5'Flank|ADH1B_ENST00000394887.3_Missense_Mutation_p.L127Q			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	167					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GACTTTCTCCAGGGGCGAGGC	0.522																																							uc003hus.3		NA																	0				ovary(1)|breast(1)	2						c.(499-501)CTG>CAG		class I alcohol dehydrogenase, beta subunit	Fomepizole(DB01213)|NADH(DB00157)						141.0	132.0	135.0					4																	100237122		2203	4300	6503	SO:0001583	missense	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100237122A>T	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.500T>A	4.37:g.100237122A>T	ENSP00000306606:p.Leu167Gln					ADH1A_uc011ceg.1_Intron|ADH1B_uc003hut.3_Missense_Mutation_p.L127Q|ADH1B_uc011ceh.1_Missense_Mutation_p.L12Q|ADH1B_uc011cei.1_Missense_Mutation_p.L127Q	p.L167Q	NM_000668	NP_000659	P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	5	584	-			167					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	c.500T>A	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.279431	0.40294	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.32515	3.69;1.45	3.96	2.75	0.32379	GroES-like (1);	0.071841	0.56097	D	0.000021	T	0.66733	0.2819	H	0.98754	4.32	0.80722	D	1	P;P;B	0.51240	0.929;0.943;0.375	D;P;P	0.63113	0.911;0.899;0.775	T	0.72261	-0.4345	10	0.87932	D	0	-2.7157	9.1601	0.37016	0.9108:0.0:0.0891:0.0	.	154;127;167	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	Q	167;127;154	ENSP00000306606:L167Q;ENSP00000378351:L127Q	ENSP00000306606:L167Q	L	-	2	0	ADH1B	100456145	1.000000	0.71417	0.812000	0.32479	0.071000	0.16799	5.400000	0.66320	0.384000	0.24942	0.459000	0.35465	CTG		0.522	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		8	81	0	0	0	0.00308	0	8	81				
COL25A1	84570	broad.mit.edu	37	4	109769934	109769934	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:109769934G>T	ENST00000399132.1	-	27	1945	c.1415C>A	c.(1414-1416)cCa>cAa	p.P472Q	COL25A1_ENST00000399127.1_Missense_Mutation_p.P445Q|COL25A1_ENST00000399126.1_Missense_Mutation_p.P472Q	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ATCCATTCCTGGGATTCCTGG	0.353																																							uc003hze.1		NA																	0				ovary(2)	2						c.(1414-1416)CCA>CAA		collagen, type XXV, alpha 1 isoform 1							121.0	108.0	112.0					4																	109769934		1832	4085	5917	SO:0001583	missense	84570					collagen|extracellular space	beta-amyloid binding|heparin binding	g.chr4:109769934G>T	AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1415C>A	4.37:g.109769934G>T	ENSP00000382083:p.Pro472Gln					COL25A1_uc003hzg.2_Missense_Mutation_p.P472Q|COL25A1_uc003hzd.2_RNA|COL25A1_uc003hzf.2_Missense_Mutation_p.P230Q	p.P472Q	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000173)	26	1946	-		Hepatocellular(203;0.217)	472			Extracellular (Potential).|Collagen-like 6.			Missense_Mutation	SNP	ENST00000399132.1	37	c.1415C>A	CCDS43258.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077334	0.36662	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.96716	-4.1;-4.1;-2.41	5.01	5.01	0.66863	.	0.105231	0.64402	D	0.000003	D	0.97492	0.9179	M	0.63169	1.94	0.44302	D	0.997178	D;D	0.76494	0.998;0.999	P;D	0.85130	0.905;0.997	D	0.97270	0.9910	9	.	.	.	-3.8872	16.4954	0.84238	0.0:0.0:1.0:0.0	.	472;472	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	Q	472;474;453;445;472;402	ENSP00000382083:P472Q;ENSP00000382078:P445Q;ENSP00000382077:P472Q	.	P	-	2	0	COL25A1	109989383	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	5.835000	0.69368	2.494000	0.84150	0.552000	0.68991	CCA		0.353	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518		7	29	1	0	2.74318e-10	0.006214	4.56975e-10	7	29				
ANK2	287	broad.mit.edu	37	4	113970941	113970941	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:113970941T>A	ENST00000357077.4	+	1	110	c.57T>A	c.(55-57)agT>agA	p.S19R	ANK2_ENST00000394537.3_Missense_Mutation_p.S19R|RP11-650J17.1_ENST00000508959.1_RNA|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S19R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	19					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCAACGGCAGTAGTCAGAGGA	0.418																																							uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(55-57)AGT>AGA		ankyrin 2 isoform 1							82.0	87.0	85.0					4																	113970941		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:113970941T>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.57T>A	4.37:g.113970941T>A	ENSP00000349588:p.Ser19Arg					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Missense_Mutation_p.S19R|ANK2_uc003ibc.2_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S19R	p.S19R	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	1	157	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	19					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.57T>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	T	14.53	2.562188	0.45590	.	.	ENSG00000145362	ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366	T;T;T;T	0.67171	-0.23;-0.2;-0.23;-0.25	5.09	-1.43	0.08884	.	0.186751	0.26231	N	0.025574	T	0.38348	0.1037	N	0.04880	-0.145	0.80722	D	1	B;P;B	0.38420	0.232;0.63;0.343	B;B;B	0.35607	0.102;0.101;0.206	T	0.10776	-1.0615	10	0.22706	T	0.39	.	11.6917	0.51519	0.0:0.5674:0.0:0.4326	.	19;19;19	Q01484;Q01484-2;Q01484-4	ANK2_HUMAN;.;.	R	19	ENSP00000424722:S19R;ENSP00000378044:S19R;ENSP00000349588:S19R;ENSP00000264366:S19R	ENSP00000264366:S19R	S	+	3	2	ANK2	114190390	0.434000	0.25570	0.934000	0.37439	0.995000	0.86356	-0.121000	0.10643	-0.517000	0.06461	0.533000	0.62120	AGT		0.418	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		4	21	0	0	0	0.009096	0	4	21				
ANK2	287	broad.mit.edu	37	4	114254230	114254230	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:114254230C>A	ENST00000357077.4	+	29	3298	c.3245C>A	c.(3244-3246)cCt>cAt	p.P1082H	ANK2_ENST00000394537.3_Missense_Mutation_p.P1082H|ANK2_ENST00000509550.1_Missense_Mutation_p.P258H|ANK2_ENST00000506722.1_Missense_Mutation_p.P1073H|ANK2_ENST00000264366.6_Missense_Mutation_p.P1049H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1082	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTGGAGATCCCTCACTTTGCG	0.507																																							uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(3244-3246)CCT>CAT		ankyrin 2 isoform 1							168.0	149.0	155.0					4																	114254230		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114254230C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3245C>A	4.37:g.114254230C>A	ENSP00000349588:p.Pro1082His					ANK2_uc003ibd.3_Missense_Mutation_p.P1073H|ANK2_uc003ibf.3_Missense_Mutation_p.P1082H|ANK2_uc011cgc.1_Missense_Mutation_p.P258H|ANK2_uc003ibg.3_Missense_Mutation_p.P77H|ANK2_uc003ibc.2_Missense_Mutation_p.P1058H|ANK2_uc011cgb.1_Missense_Mutation_p.P1097H	p.P1082H	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	29	3345	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1049			ZU5.|Interaction with SPTBN1.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.3245C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.282365	0.80692	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.63	5.63	0.86233	ZU5 (3);	0.125149	0.36034	N	0.002833	T	0.71056	0.3295	M	0.76328	2.33	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.997;0.993	T	0.73464	-0.3974	10	0.87932	D	0	.	19.6634	0.95882	0.0:1.0:0.0:0.0	.	258;1049;94;1082;1082;1073;1073	E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.;ANK2_HUMAN;.;.;.;.;.	H	1061;995;1073;128;1097;1082;1082;1049;1073;258	ENSP00000423799:P1061H;ENSP00000421011:P995H;ENSP00000421067:P1073H;ENSP00000424722:P1097H;ENSP00000378044:P1082H;ENSP00000349588:P1082H;ENSP00000264366:P1049H;ENSP00000426944:P258H	ENSP00000264366:P1049H	P	+	2	0	ANK2	114473679	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.638000	0.89438	0.655000	0.94253	CCT		0.507	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		21	46	1	0	1.96292e-10	0.010504	3.28587e-10	21	46				
ANKRD50	57182	broad.mit.edu	37	4	125591053	125591053	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:125591053T>C	ENST00000504087.1	-	4	4416	c.3379A>G	c.(3379-3381)Aaa>Gaa	p.K1127E	ANKRD50_ENST00000515641.1_Missense_Mutation_p.K948E	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1127	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GACTGCACTTTTGAAGACAAT	0.398																																							uc003ifg.3		NA																	0				central_nervous_system(1)	1						c.(3379-3381)AAA>GAA		ankyrin repeat domain 50							127.0	122.0	124.0					4																	125591053		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125591053T>C	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3379A>G	4.37:g.125591053T>C	ENSP00000425658:p.Lys1127Glu					ANKRD50_uc011cgo.1_Missense_Mutation_p.K948E|ANKRD50_uc010inw.2_Missense_Mutation_p.K1127E	p.K1127E	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	3645	-			1127			Ser-rich.		A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.3379A>G	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.425619	0.43020	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.66995	-0.24;-0.21	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.50803	0.1637	L	0.27053	0.805	0.50171	D	0.999856	P	0.37864	0.61	B	0.32393	0.145	T	0.51188	-0.8737	10	0.24483	T	0.36	.	15.2021	0.73147	0.0:0.0:0.0:1.0	.	1127	Q9ULJ7	ANR50_HUMAN	E	1127;948	ENSP00000425658:K1127E;ENSP00000425355:K948E	ENSP00000425658:K1127E	K	-	1	0	ANKRD50	125810503	1.000000	0.71417	0.819000	0.32651	0.980000	0.70556	7.365000	0.79537	2.179000	0.69175	0.459000	0.35465	AAA		0.398	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		6	74	0	0	0	0.001168	0	6	74				
FAT4	79633	broad.mit.edu	37	4	126337697	126337697	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:126337697G>T	ENST00000394329.3	+	6	6951	c.6938G>T	c.(6937-6939)aGt>aTt	p.S2313I	FAT4_ENST00000335110.5_Missense_Mutation_p.S611I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2313	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTCTCAGCCAGTGGAGAACTT	0.433																																							uc003ifj.3		NA																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(6937-6939)AGT>ATT		FAT tumor suppressor homolog 4 precursor							269.0	257.0	261.0					4																	126337697		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126337697G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6938G>T	4.37:g.126337697G>T	ENSP00000377862:p.Ser2313Ile					FAT4_uc011cgp.1_Missense_Mutation_p.S611I	p.S2313I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			6	6938	+			2313			Extracellular (Potential).|Cadherin 22.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6938G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384446	0.61845	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01821	4.62;4.62	5.23	4.39	0.52855	Cadherin (4);Cadherin-like (1);	0.000000	0.40064	U	0.001198	T	0.10809	0.0264	M	0.83953	2.67	0.42950	D	0.994373	D;D	0.76494	0.999;0.997	D;D	0.72338	0.977;0.928	T	0.00664	-1.1620	10	0.87932	D	0	.	13.6355	0.62221	0.0743:0.0:0.9257:0.0	.	611;2313	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	I	2313;611	ENSP00000377862:S2313I;ENSP00000335169:S611I	ENSP00000335169:S611I	S	+	2	0	FAT4	126557147	0.980000	0.34600	0.999000	0.59377	0.817000	0.46193	1.491000	0.35583	1.207000	0.43291	0.563000	0.77884	AGT		0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		10	82	1	0	4.68919e-08	0.008291	7.18522e-08	10	82				
PCDH18	54510	broad.mit.edu	37	4	138442469	138442469	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:138442469G>A	ENST00000344876.4	-	4	3508	c.3122C>T	c.(3121-3123)cCc>cTc	p.P1041L	PCDH18_ENST00000507846.1_Missense_Mutation_p.P820L|PCDH18_ENST00000412923.2_Missense_Mutation_p.P1040L|PCDH18_ENST00000511115.1_Missense_Mutation_p.P221L|PCDH18_ENST00000510305.1_Missense_Mutation_p.P252L	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1041	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGCTGGCAAGGGTCCCTTCCT	0.577																																							uc003ihe.3		NA																	0				pancreas(3)|skin(2)	5						c.(3121-3123)CCC>CTC		protocadherin 18 precursor							50.0	49.0	50.0					4																	138442469		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138442469G>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.3122C>T	4.37:g.138442469G>A	ENSP00000355082:p.Pro1041Leu					PCDH18_uc003ihf.3_Missense_Mutation_p.P1033L|PCDH18_uc011cgz.1_Missense_Mutation_p.P252L|PCDH18_uc003ihg.3_Missense_Mutation_p.P820L|PCDH18_uc011cha.1_Missense_Mutation_p.P221L	p.P1041L	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			4	3509	-	all_hematologic(180;0.24)		1041			Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.3122C>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	3.288	-0.145583	0.06627	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.54279	0.67;0.68;0.58;1.5;1.5	4.77	2.86	0.33363	.	0.378257	0.19012	N	0.125045	T	0.40570	0.1122	L	0.29908	0.895	0.20563	N	0.999886	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.39663	-0.9603	10	0.56958	D	0.05	.	12.5241	0.56077	0.0:0.0:0.5244:0.4756	.	221;820;1040;1041	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	L	1041;1040;820;252;221	ENSP00000355082:P1041L;ENSP00000390688:P1040L;ENSP00000425903:P820L;ENSP00000424269:P252L;ENSP00000425647:P221L	ENSP00000355082:P1041L	P	-	2	0	PCDH18	138661919	0.991000	0.36638	0.046000	0.18839	0.725000	0.41563	1.678000	0.37586	0.962000	0.38057	0.591000	0.81541	CCC		0.577	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		5	39	0	0	0	0.000602	0	5	39				
FGA	2243	broad.mit.edu	37	4	155505732	155505732	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:155505732G>T	ENST00000302053.3	-	6	2223	c.2145C>A	c.(2143-2145)caC>caA	p.H715Q		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	715	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGGTTAGTAAGTGGAGGTAGT	0.502																																					NSCLC(143;340 1922 20892 22370 48145)	NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1		NA																	0				ovary(2)|breast(1)	3						c.(2143-2145)CAC>CAA		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						127.0	124.0	125.0					4																	155505732		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155505732G>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2145C>A	4.37:g.155505732G>T	ENSP00000306361:p.His715Gln						p.H715Q	NM_000508	NP_000499	P02671	FIBA_HUMAN			6	2203	-	all_hematologic(180;0.215)	Renal(120;0.0458)	715			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.2145C>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.385360	0.61956	.	.	ENSG00000171560	ENST00000302053	D	0.97831	-4.56	5.81	4.09	0.47781	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.98924	0.9635	H	0.95574	3.69	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.98821	1.0747	10	0.87932	D	0	.	10.0258	0.42070	0.2078:0.0:0.7922:0.0	.	715	P02671	FIBA_HUMAN	Q	715	ENSP00000306361:H715Q	ENSP00000306361:H715Q	H	-	3	2	FGA	155725182	1.000000	0.71417	0.932000	0.37286	0.997000	0.91878	4.147000	0.58078	0.797000	0.33971	0.650000	0.86243	CAC		0.502	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		19	85	1	0	1.33834e-09	0.007413	2.15638e-09	19	85				
MARCH1	55016	broad.mit.edu	37	4	165118411	165118411	+	Intron	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:165118411G>T	ENST00000503008.1	-	2	864				MARCH1_ENST00000508725.1_Intron|MARCH1_ENST00000514618.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CTGAGTAAGGGGCCTCCTTGT	0.517																																							uc011cjk.1		NA																	0					0						c.(451-453)GCC>GCA		acidic nuclear phosphoprotein 32C							124.0	114.0	117.0					4																	165118411		2203	4300	6503	SO:0001627	intron_variant	23520							g.chr4:165118411G>T	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.113-85597C>A	4.37:g.165118411G>T						MARCH1_uc003iqs.1_Intron	p.A151A	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	453	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	151					D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	c.453C>A	CCDS54814.1																																																																																				0.517	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		16	54	1	0	2.23348e-06	0.004007	3.12961e-06	16	54				
KLHL2	11275	broad.mit.edu	37	4	166200437	166200437	+	Intron	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:166200437A>T	ENST00000226725.6	+	6	803				KLHL2_ENST00000514860.1_Intron|KLHL2_ENST00000506761.1_Intron|KLHL2_ENST00000421009.2_Intron|KLHL2_ENST00000538127.1_Intron|KLHL2_ENST00000509028.1_Intron	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2						protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TCAACGGTAGACTGTGTTCTT	0.443																																							uc003ird.3		NA																	0					0						c.(361-363)TCT>ACT		glycerol kinase isoform b																																				SO:0001627	intron_variant	2713							g.chr4:166200437A>T	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.545-15074A>T	4.37:g.166200437A>T						KLHL2_uc003irb.2_Intron|KLHL2_uc011cjm.1_Intron|KLHL2_uc003irc.2_Intron|KLHL2_uc010ira.2_Intron	p.S121T	NM_000167	NP_000158					1	739	-								A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	c.361T>A	CCDS34094.1																																																																																				0.443	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			12	187	0	0	0	0.013537	0	12	187				
CPE	1363	broad.mit.edu	37	4	166405732	166405732	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:166405732G>T	ENST00000402744.4	+	5	1229	c.949G>T	c.(949-951)Ggt>Tgt	p.G317C		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	317					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CACCAACGGTGGTGCTTGGTA	0.463																																							uc003irg.3		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(949-951)GGT>TGT		carboxypeptidase E preproprotein	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						255.0	239.0	245.0					4																	166405732		2203	4300	6503	SO:0001583	missense	1363				cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding	g.chr4:166405732G>T	X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.949G>T	4.37:g.166405732G>T	ENSP00000386104:p.Gly317Cys						p.G317C	NM_001873	NP_001864	P16870	CBPE_HUMAN		GBM - Glioblastoma multiforme(119;0.137)	5	1226	+	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)	317					A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	ENST00000402744.4	37	c.949G>T	CCDS3810.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896431	0.91962	.	.	ENSG00000109472	ENST00000402744;ENST00000261510	T	0.10860	2.83	5.67	5.67	0.87782	Peptidase M14, carboxypeptidase A (2);	0.169358	0.52532	D	0.000079	T	0.26955	0.0660	L	0.46157	1.445	0.80722	D	1	D	0.60160	0.987	P	0.60609	0.877	T	0.00094	-1.2079	10	0.87932	D	0	-0.6653	20.1284	0.97992	0.0:0.0:1.0:0.0	.	317	P16870	CBPE_HUMAN	C	317;281	ENSP00000386104:G317C	ENSP00000261510:G281C	G	+	1	0	CPE	166625182	1.000000	0.71417	0.963000	0.40424	0.670000	0.39368	9.136000	0.94489	2.829000	0.97493	0.650000	0.86243	GGT		0.463	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873		35	179	1	0	1.36615e-20	0.013726	2.67019e-20	35	179				
ADAM29	11086	broad.mit.edu	37	4	175898230	175898230	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:175898230G>T	ENST00000359240.3	+	5	2224	c.1554G>T	c.(1552-1554)gaG>gaT	p.E518D	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.E518D|ADAM29_ENST00000445694.1_Missense_Mutation_p.E518D|ADAM29_ENST00000514159.1_Missense_Mutation_p.E518D	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	518	Cys-rich.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTGCAAGTGAGACTTGCTACA	0.433																																					Ovarian(140;1727 1835 21805 25838 41440)	Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NA																	0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(1552-1554)GAG>GAT		ADAM metallopeptidase domain 29 preproprotein							83.0	86.0	85.0					4																	175898230		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175898230G>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.1554G>T	4.37:g.175898230G>T	ENSP00000352177:p.Glu518Asp					ADAM29_uc003iud.2_Missense_Mutation_p.E518D|ADAM29_uc010irr.2_Missense_Mutation_p.E518D|ADAM29_uc011cki.1_Missense_Mutation_p.E518D	p.E518D	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	2224	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	518			Cys-rich.|Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.1554G>T	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	8.731	0.916623	0.17907	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	3.48	-2.88	0.05682	ADAM, cysteine-rich (2);	5.916770	0.00589	U	0.000341	T	0.06872	0.0175	N	0.01493	-0.835	0.09310	N	1	B	0.12013	0.005	B	0.14578	0.011	T	0.17961	-1.0352	9	.	.	.	.	3.5747	0.07930	0.2055:0.1539:0.5234:0.1172	.	518	Q9UKF5	ADA29_HUMAN	D	518	ENSP00000352177:E518D;ENSP00000414544:E518D;ENSP00000384229:E518D;ENSP00000423517:E518D	.	E	+	3	2	ADAM29	176134805	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.055000	0.11807	-0.785000	0.04522	0.643000	0.83706	GAG		0.433	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				11	46	1	0	1.08611e-07	0.010729	1.63869e-07	11	46				
NEIL3	55247	broad.mit.edu	37	4	178243616	178243616	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:178243616G>T	ENST00000264596.3	+	2	278	c.160G>T	c.(160-162)Gct>Tct	p.A54S		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	54					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCACTAGGCTGCTGCACTGAA	0.378								Base excision repair (BER), DNA glycosylases																															uc003iut.2		NA																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(160-162)GCT>TCT	BER_DNA_glycosylases	nei endonuclease VIII-like 3							226.0	211.0	216.0					4																	178243616		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178243616G>T	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.160G>T	4.37:g.178243616G>T	ENSP00000264596:p.Ala54Ser					NEIL3_uc010irs.2_Intron	p.A54S	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	2	277	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	54					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.160G>T	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	G	0.702	-0.790509	0.02884	.	.	ENSG00000109674	ENST00000264596	T	0.22336	1.96	4.61	1.83	0.25207	DNA glycosylase/AP lyase, catalytic domain (1);	1.478860	0.03925	N	0.284259	T	0.20618	0.0496	L	0.42245	1.32	0.23341	N	0.997879	B	0.06786	0.001	B	0.06405	0.002	T	0.27297	-1.0078	10	0.38643	T	0.18	0.2283	7.3145	0.26493	0.0884:0.0:0.6155:0.2961	.	54	Q8TAT5	NEIL3_HUMAN	S	54	ENSP00000264596:A54S	ENSP00000264596:A54S	A	+	1	0	NEIL3	178480610	0.985000	0.35326	0.979000	0.43373	0.005000	0.04900	0.910000	0.28571	-0.112000	0.11979	-1.357000	0.01221	GCT		0.378	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		15	85	1	0	3.45872e-05	0.004007	4.55862e-05	15	85				
KLKB1	3818	broad.mit.edu	37	4	187179309	187179309	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:187179309G>T	ENST00000264690.6	+	15	2047	c.1860G>T	c.(1858-1860)tgG>tgT	p.W620C	KLKB1_ENST00000513864.1_3'UTR	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	620	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACATGGACTGGATTTTAGAGA	0.502																																							uc003iyy.2		NA																	0				ovary(1)	1						c.(1858-1860)TGG>TGT		plasma kallikrein B1 precursor							73.0	68.0	70.0					4																	187179309		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187179309G>T	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.1860G>T	4.37:g.187179309G>T	ENSP00000264690:p.Trp620Cys					KLKB1_uc011clc.1_Missense_Mutation_p.W418C|KLKB1_uc011cld.1_3'UTR	p.W620C	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	15	1931	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	620			Peptidase S1.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.1860G>T	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.126900|4.126900	0.77549|0.77549	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690	.|D	.|0.99121	.|-5.45	5.41|5.41	5.41|5.41	0.78517|0.78517	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.99641|0.99641	0.9868|0.9868	H|H	0.98276|0.98276	4.19|4.19	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.97572|0.97572	1.0105|1.0105	5|10	.|0.87932	.|D	.|0	.|.	19.3785|19.3785	0.94521|0.94521	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|620;620	.|A8K9A9;P03952	.|.;KLKB1_HUMAN	V|C	668|620	.|ENSP00000264690:W620C	.|ENSP00000264690:W620C	G|W	+|+	2|3	0|0	KLKB1|KLKB1	187416303|187416303	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.746000|0.746000	0.42486|0.42486	9.608000|9.608000	0.98331|0.98331	2.802000|2.802000	0.96397|0.96397	0.563000|0.563000	0.77884|0.77884	GGA|TGG		0.502	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		12	38	1	0	7.03913e-09	0.013537	1.10569e-08	12	38				
ADCY2	108	broad.mit.edu	37	5	7826866	7826866	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:7826866T>A	ENST00000338316.4	+	25	3247	c.3158T>A	c.(3157-3159)cTc>cAc	p.L1053H	ADCY2_ENST00000537121.1_Missense_Mutation_p.L873H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	1053					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CTGCAGACCCTCGGATACACG	0.498																																							uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(3157-3159)CTC>CAC		adenylate cyclase 2							106.0	94.0	98.0					5																	7826866		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7826866T>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.3158T>A	5.37:g.7826866T>A	ENSP00000342952:p.Leu1053His					ADCY2_uc011cmo.1_Missense_Mutation_p.L873H|ADCY2_uc010itm.1_Missense_Mutation_p.L249H	p.L1053H	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			25	3225	+			1053			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.3158T>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	T	18.16	3.562274	0.65538	.	.	ENSG00000078295	ENST00000338316;ENST00000382532;ENST00000541993;ENST00000537121	T;T	0.81078	-1.45;-1.45	5.43	5.43	0.79202	Adenylyl cyclase class-3/4/guanylyl cyclase (4);	0.000000	0.64402	D	0.000002	D	0.86468	0.5940	L	0.52011	1.625	0.43279	D	0.995247	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	D	0.85316	0.1081	10	0.34782	T	0.22	.	15.5055	0.75735	0.0:0.0:0.0:1.0	.	873;1053	B7Z2C1;Q08462	.;ADCY2_HUMAN	H	1053;165;886;873	ENSP00000342952:L1053H;ENSP00000444803:L873H	ENSP00000342952:L1053H	L	+	2	0	ADCY2	7879866	0.998000	0.40836	0.704000	0.30370	0.553000	0.35397	7.799000	0.85936	2.061000	0.61500	0.482000	0.46254	CTC		0.498	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		6	42	0	0	0	0.001984	0	6	42				
CTNND2	1501	broad.mit.edu	37	5	11082891	11082891	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:11082891C>T	ENST00000304623.8	-	16	2894	c.2705G>A	c.(2704-2706)cGa>cAa	p.R902Q	CTNND2_ENST00000458100.2_Missense_Mutation_p.R469Q|CTNND2_ENST00000511377.1_Missense_Mutation_p.R811Q|CTNND2_ENST00000503622.1_Missense_Mutation_p.R565Q|CTNND2_ENST00000359640.2_Missense_Mutation_p.R844Q|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	902					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATTGTCTATTCGGAGCAGCTC	0.547																																							uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2704-2706)CGA>CAA		catenin (cadherin-associated protein), delta 2							115.0	102.0	106.0					5																	11082891		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11082891C>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2705G>A	5.37:g.11082891C>T	ENSP00000307134:p.Arg902Gln					CTNND2_uc010itt.2_Missense_Mutation_p.R811Q|CTNND2_uc011cmy.1_Missense_Mutation_p.R565Q|CTNND2_uc011cmz.1_Missense_Mutation_p.R469Q|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.R494Q	p.R902Q	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			16	2850	-			902			ARM 8.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2705G>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	C	36	5.675075	0.96764	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	L	0.39397	1.21	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.79108	0.992;0.992;0.986	T	0.71715	-0.4509	10	0.27785	T	0.31	-8.312	18.7557	0.91832	0.0:1.0:0.0:0.0	.	565;494;902	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	Q	902;844;811;469;565	ENSP00000307134:R902Q;ENSP00000352661:R844Q;ENSP00000426510:R811Q;ENSP00000391155:R469Q;ENSP00000426887:R565Q	ENSP00000307134:R902Q	R	-	2	0	CTNND2	11135891	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.776000	0.85560	2.505000	0.84491	0.563000	0.77884	CGA		0.547	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		4	58	0	0	0	0.009096	0	4	58				
PRDM9	56979	broad.mit.edu	37	5	23527018	23527018	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:23527018C>T	ENST00000296682.3	+	11	2003	c.1821C>T	c.(1819-1821)ccC>ccT	p.P607P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	607					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGAGAAGCCCTATGTCTGCA	0.607										HNSCC(3;0.000094)																													uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1819-1821)CCC>CCT		PR domain containing 9							31.0	36.0	34.0					5																	23527018		2054	4139	6193	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23527018C>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1821C>T	5.37:g.23527018C>T		HNSCC(3;0.000094)					p.P607P	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			11	2003	+			607					B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.1821C>T	CCDS43307.1																																																																																				0.607	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		7	88	0	0	0	0.004482	0	7	88				
CDH10	1008	broad.mit.edu	37	5	24509888	24509888	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:24509888A>T	ENST00000264463.4	-	7	1550	c.1043T>A	c.(1042-1044)gTc>gAc	p.V348D		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	348	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTCTGCTTCGACTTTCAGAGT	0.378										HNSCC(23;0.051)																													uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(1042-1044)GTC>GAC		cadherin 10, type 2 preproprotein							68.0	69.0	69.0					5																	24509888		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24509888A>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1043T>A	5.37:g.24509888A>T	ENSP00000264463:p.Val348Asp	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.V348D	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	7	1375	-			348			Cadherin 3.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1043T>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.248763	0.80024	.	.	ENSG00000040731	ENST00000264463	T	0.57273	0.41	5.03	5.03	0.67393	Cadherin (5);Cadherin-like (1);	0.057820	0.64402	D	0.000002	D	0.82268	0.5000	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88836	0.3309	10	0.87932	D	0	.	14.2226	0.65839	1.0:0.0:0.0:0.0	.	348	Q9Y6N8	CAD10_HUMAN	D	348	ENSP00000264463:V348D	ENSP00000264463:V348D	V	-	2	0	CDH10	24545645	1.000000	0.71417	0.988000	0.46212	0.865000	0.49528	8.893000	0.92498	2.023000	0.59567	0.459000	0.35465	GTC		0.378	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		4	36	0	0	0	0.000602	0	4	36				
CDH9	1007	broad.mit.edu	37	5	26881513	26881513	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:26881513C>A	ENST00000231021.4	-	12	2274	c.2102G>T	c.(2101-2103)aGg>aTg	p.R701M		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	701					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CACAGTCCTCCTTATCTGAAA	0.408																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(2101-2103)AGG>ATG		cadherin 9, type 2 preproprotein							172.0	162.0	165.0					5																	26881513		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881513C>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2102G>T	5.37:g.26881513C>A	ENSP00000231021:p.Arg701Met					CDH9_uc011cnv.1_Missense_Mutation_p.R294M	p.R701M	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			12	2271	-			701			Cytoplasmic (Potential).		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.2102G>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913067	0.72983	.	.	ENSG00000113100	ENST00000231021	T	0.77750	-1.12	4.96	4.96	0.65561	Cadherin, cytoplasmic domain (1);	0.044588	0.85682	D	0.000000	D	0.88537	0.6463	M	0.82323	2.585	0.58432	D	0.999992	D;D	0.67145	0.991;0.996	D;D	0.72338	0.923;0.977	D	0.89316	0.3636	9	.	.	.	.	17.1426	0.86758	0.0:1.0:0.0:0.0	.	294;701	B4DFP0;Q9ULB4	.;CADH9_HUMAN	M	701	ENSP00000231021:R701M	.	R	-	2	0	CDH9	26917270	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.718000	0.68455	2.447000	0.82792	0.557000	0.71058	AGG		0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		49	60	1	0	6.17242e-35	0.01441	1.2417e-34	49	60				
CDH6	1004	broad.mit.edu	37	5	31302382	31302382	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:31302382G>T	ENST00000265071.2	+	6	1241	c.976G>T	c.(976-978)Gaa>Taa	p.E326*	CDH6_ENST00000514738.1_Nonsense_Mutation_p.E271*	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	326	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGAAACCCAGGAAGGGATTAT	0.453																																							uc003jhe.1		NA																	0				ovary(4)|skin(2)|large_intestine(1)	7						c.(976-978)GAA>TAA		cadherin 6, type 2 preproprotein							102.0	97.0	99.0					5																	31302382		2203	4300	6503	SO:0001587	stop_gained	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31302382G>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.976G>T	5.37:g.31302382G>T	ENSP00000265071:p.Glu326*					CDH6_uc003jhd.1_Nonsense_Mutation_p.E326*	p.E326*	NM_004932	NP_004923	P55285	CADH6_HUMAN			6	1302	+			326			Cadherin 3.|Extracellular (Potential).		A8K5H5|Q9BWS0	Nonsense_Mutation	SNP	ENST00000265071.2	37	c.976G>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	40	8.523134	0.98848	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	.	.	.	5.79	5.79	0.91817	.	0.190038	0.53938	D	0.000044	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0944	0.97832	0.0:0.0:1.0:0.0	.	.	.	.	X	271;326	.	ENSP00000265071:E326X	E	+	1	0	CDH6	31338139	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.869000	0.99810	2.752000	0.94435	0.585000	0.79938	GAA		0.453	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		5	47	1	0	0.000602214	0.000602	0.000707037	5	47				
ADAMTS12	81792	broad.mit.edu	37	5	33549375	33549375	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:33549375G>T	ENST00000504830.1	-	21	4574	c.4239C>A	c.(4237-4239)ccC>ccA	p.P1413P	ADAMTS12_ENST00000352040.3_Silent_p.P1328P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1413	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P1413P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCTCAATGGGGGAGGAATGC	0.612										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(4237-4239)CCC>CCA		ADAM metallopeptidase with thrombospondin type 1							68.0	70.0	69.0					5																	33549375		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33549375G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4239C>A	5.37:g.33549375G>T		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.P1328P	p.P1413P	NM_030955	NP_112217	P58397	ATS12_HUMAN			21	4402	-			1413			TSP type-1 6.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.4239C>A	CCDS34140.1																																																																																				0.612	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		14	87	1	0	1.52009e-12	0.003163	2.70238e-12	14	87				
ADAMTS12	81792	broad.mit.edu	37	5	33614446	33614446	+	Silent	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:33614446A>G	ENST00000504830.1	-	16	2759	c.2424T>C	c.(2422-2424)taT>taC	p.Y808Y	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.Y723Y	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	808	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTGTGTACTCATACTTGATGC	0.468										HNSCC(64;0.19)																													uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2422-2424)TAT>TAC		ADAM metallopeptidase with thrombospondin type 1							184.0	138.0	154.0					5																	33614446		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33614446A>G	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2424T>C	5.37:g.33614446A>G		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.Y723Y	p.Y808Y	NM_030955	NP_112217	P58397	ATS12_HUMAN			16	2587	-			808			Spacer 1.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.2424T>C	CCDS34140.1																																																																																				0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		4	46	0	0	0	0.009096	0	4	46				
SPEF2	79925	broad.mit.edu	37	5	35727880	35727880	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:35727880G>T	ENST00000356031.3	+	21	3172	c.3018G>T	c.(3016-3018)aaG>aaT	p.K1006N	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_Missense_Mutation_p.K1001N	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1006					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)				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)			AGCCACCTAAGCCAGGATCAG	0.428																																							uc003jjo.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(3016-3018)AAG>AAT		KPL2 protein isoform 1							127.0	128.0	128.0					5																	35727880		1955	4138	6093	SO:0001583	missense	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35727880G>T	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.3018G>T	5.37:g.35727880G>T	ENSP00000348314:p.Lys1006Asn					SPEF2_uc003jjp.1_Missense_Mutation_p.K492N	p.K1006N	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		21	3129	+	all_lung(31;7.56e-05)		1006					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	c.3018G>T	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058838	0.55325	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	T;T	0.08546	3.08;3.08	5.3	2.13	0.27403	.	0.233298	0.38720	N	0.001599	T	0.23649	0.0572	M	0.76574	2.34	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.994;0.987	T	0.00521	-1.1691	10	0.66056	D	0.02	.	8.2498	0.31710	0.3108:0.0:0.6892:0.0	.	1001;1006	Q9C093-2;Q9C093	.;SPEF2_HUMAN	N	1006;1001	ENSP00000348314:K1006N;ENSP00000412125:K1001N	ENSP00000348314:K1006N	K	+	3	2	SPEF2	35763637	1.000000	0.71417	0.982000	0.44146	0.788000	0.44548	0.272000	0.18644	0.546000	0.28920	0.650000	0.86243	AAG		0.428	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		18	60	1	0	0.00152264	0.010504	0.0017518	18	60				
UGT3A2	167127	broad.mit.edu	37	5	36052038	36052038	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:36052038G>A	ENST00000282507.3	-	3	346	c.245C>T	c.(244-246)cCt>cTt	p.P82L	UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Missense_Mutation_p.P48L|UGT3A2_ENST00000504954.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	82					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGATCTTCAGGTGCAAGCCA	0.294																																							uc003jjz.1		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(244-246)CCT>CTT		UDP glycosyltransferase 3 family, polypeptide A2							50.0	54.0	53.0					5																	36052038		2202	4297	6499	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36052038G>A		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.245C>T	5.37:g.36052038G>A	ENSP00000282507:p.Pro82Leu					UGT3A2_uc011cos.1_Missense_Mutation_p.P48L|UGT3A2_uc011cot.1_5'UTR	p.P82L	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	338	-	all_lung(31;0.000179)		82			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.245C>T	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.704811	0.48412	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000515131	T;T;T	0.62364	0.03;0.03;1.42	3.09	3.09	0.35607	.	1.154970	0.06912	U	0.807808	T	0.65863	0.2732	L	0.28400	0.85	0.32287	N	0.566771	B;D	0.59767	0.098;0.986	B;P	0.62813	0.122;0.907	T	0.63462	-0.6632	10	0.49607	T	0.09	.	7.6874	0.28548	0.0:0.0:0.7486:0.2513	.	48;82	E9PFK7;Q3SY77	.;UD3A2_HUMAN	L	82;48;82	ENSP00000282507:P82L;ENSP00000427404:P48L;ENSP00000420865:P82L	ENSP00000282507:P82L	P	-	2	0	UGT3A2	36087795	0.998000	0.40836	0.437000	0.26809	0.166000	0.22503	1.519000	0.35888	2.045000	0.60652	0.655000	0.94253	CCT		0.294	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		20	37	0	0	0	0.012319	0	20	37				
C5orf30	90355	broad.mit.edu	37	5	102611912	102611912	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:102611912G>A	ENST00000319933.2	+	3	600	c.292G>A	c.(292-294)Gca>Aca	p.A98T	C5orf30_ENST00000515669.1_Missense_Mutation_p.A98T|C5orf30_ENST00000510890.1_Missense_Mutation_p.A98T	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	98					cilium morphogenesis (GO:0060271)|protein transport (GO:0015031)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		ACAGCTAGATGCAGGACTTGC	0.527																																							uc003kog.1		NA																	0					0						c.(292-294)GCA>ACA		hypothetical protein LOC90355							68.0	62.0	64.0					5																	102611912		2203	4300	6503	SO:0001583	missense	90355							g.chr5:102611912G>A		CCDS4095.1	5q21.1	2012-02-23			ENSG00000181751	ENSG00000181751			25052	protein-coding gene	gene with protein product						22085962	Standard	NM_033211		Approved	FLJ25291	uc003kog.1	Q96GV9	OTTHUMG00000128738	ENST00000319933.2:c.292G>A	5.37:g.102611912G>A	ENSP00000326110:p.Ala98Thr					C5orf30_uc003koh.1_Missense_Mutation_p.A98T	p.A98T	NM_033211	NP_149988	Q96GV9	CE030_HUMAN		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)	3	561	+		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)	98						Missense_Mutation	SNP	ENST00000319933.2	37	c.292G>A	CCDS4095.1	.	.	.	.	.	.	.	.	.	.	G	8.683	0.905564	0.17760	.	.	ENSG00000181751	ENST00000319933;ENST00000515669;ENST00000510890	.	.	.	6.06	2.86	0.33363	.	0.651566	0.15695	N	0.249211	T	0.17916	0.0430	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27673	-1.0067	9	0.08179	T	0.78	-1.9145	5.6698	0.17715	0.2385:0.0:0.5464:0.2151	.	98	Q96GV9	CE030_HUMAN	T	98	.	ENSP00000326110:A98T	A	+	1	0	C5orf30	102639811	0.974000	0.33945	0.456000	0.27044	0.973000	0.67179	1.742000	0.38248	0.866000	0.35629	0.655000	0.94253	GCA		0.527	C5orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250649.1	NM_033211		6	24	0	0	0	0.001168	0	6	24				
WDR36	134430	broad.mit.edu	37	5	110438058	110438058	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:110438058C>G	ENST00000513710.2	+	6	729	c.725C>G	c.(724-726)aCa>aGa	p.T242R	WDR36_ENST00000505303.1_Missense_Mutation_p.T186R|WDR36_ENST00000506538.2_Missense_Mutation_p.T242R			Q8NI36	WDR36_HUMAN	WD repeat domain 36	242					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTTCTATATACATTTCCAGGA	0.303																																							uc003kpd.2		NA																	0				ovary(1)|skin(1)	2						c.(724-726)ACA>AGA		WD repeat domain 36							59.0	62.0	61.0					5																	110438058		2202	4298	6500	SO:0001583	missense	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110438058C>G	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.725C>G	5.37:g.110438058C>G	ENSP00000424628:p.Thr242Arg					WDR36_uc010jbu.2_RNA	p.T242R	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	6	842	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	242			WD 2.		A2RUS4|Q68E02|Q8N1Q2	Missense_Mutation	SNP	ENST00000513710.2	37	c.725C>G	CCDS4102.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742895	0.89573	.	.	ENSG00000134987	ENST00000506538;ENST00000513710;ENST00000505303;ENST00000504122	T;T;T;T	0.38240	1.47;1.47;3.15;1.15	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.092463	0.64402	D	0.000001	T	0.52256	0.1723	M	0.62266	1.93	0.80722	D	1	P	0.51653	0.947	P	0.52881	0.712	T	0.55121	-0.8190	10	0.87932	D	0	-18.571	19.4074	0.94653	0.0:1.0:0.0:0.0	.	242	Q8NI36	WDR36_HUMAN	R	242;242;186;113	ENSP00000423067:T242R;ENSP00000424628:T242R;ENSP00000422158:T186R;ENSP00000426509:T113R	ENSP00000426509:T113R	T	+	2	0	WDR36	110465957	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.157000	0.77461	2.568000	0.86640	0.650000	0.86243	ACA		0.303	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	NM_139281		5	40	0	0	0	0.000602	0	5	40				
KCNN2	3781	broad.mit.edu	37	5	113698508	113698508	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:113698508G>A	ENST00000512097.3	+	2	1054	c.36G>A	c.(34-36)cgG>cgA	p.R12R	KCNN2_ENST00000264773.3_Silent_p.R12R			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	12					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	GCGTCATGCGGCCGCTCAGCA	0.701																																							uc003kqo.2		NA																	0				ovary(2)	2						c.(34-36)CGG>CGA		small conductance calcium-activated potassium							19.0	20.0	20.0					5																	113698508		2198	4298	6496	SO:0001819	synonymous_variant	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698508G>A	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.36G>A	5.37:g.113698508G>A							p.R12R	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	1	493	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	12					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Silent	SNP	ENST00000512097.3	37	c.36G>A	CCDS4114.1																																																																																				0.701	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		4	18	0	0	0	0.009096	0	4	18				
PCDHA1	56147	broad.mit.edu	37	5	140166634	140166634	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:140166634G>C	ENST00000504120.2	+	1	759	c.759G>C	c.(757-759)gaG>gaC	p.E253D	PCDHA1_ENST00000378133.3_Missense_Mutation_p.E253D|PCDHA1_ENST00000394633.3_Missense_Mutation_p.E253D	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	253	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTGTTAGAGACTACAGCAA	0.468																																							uc003lhb.2		NA																	0				skin(1)	1						c.(757-759)GAG>GAC		protocadherin alpha 1 isoform 1 precursor							125.0	119.0	121.0					5																	140166634		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140166634G>C	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.759G>C	5.37:g.140166634G>C	ENSP00000420840:p.Glu253Asp					PCDHA1_uc003lha.2_Missense_Mutation_p.E253D|PCDHA1_uc003lgz.2_Missense_Mutation_p.E253D	p.E253D	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	759	+			253			Cadherin 3.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.759G>C	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	16.64	3.180018	0.57800	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.75367	-0.93;-0.93;-0.93	4.19	-6.2	0.02072	Cadherin (4);Cadherin-like (1);	0.000000	0.43260	U	0.000591	D	0.86748	0.6007	H	0.96805	3.885	0.23260	N	0.998028	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.996	T	0.79931	-0.1595	10	0.87932	D	0	.	9.1181	0.36771	0.6867:0.099:0.2143:0.0	.	253;253;253	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	D	253	ENSP00000420840:E253D;ENSP00000378129:E253D;ENSP00000367373:E253D	ENSP00000367373:E253D	E	+	3	2	PCDHA1	140146818	0.008000	0.16893	0.001000	0.08648	0.901000	0.52897	-0.101000	0.10973	-1.421000	0.02007	0.650000	0.86243	GAG		0.468	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		9	56	0	0	0	0.008291	0	9	56				
PCDHA3	56145	broad.mit.edu	37	5	140182910	140182910	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:140182910C>A	ENST00000522353.2	+	1	2128	c.2128C>A	c.(2128-2130)Ctg>Atg	p.L710M	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.L710M|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	710					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTCCAGTCTGTTGGTGCT	0.657																																							uc003lhf.2		NA																	0				ovary(6)|skin(2)	8						c.(2128-2130)CTG>ATG		protocadherin alpha 3 isoform 1 precursor							86.0	87.0	86.0					5																	140182910		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140182910C>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2128C>A	5.37:g.140182910C>A	ENSP00000429808:p.Leu710Met					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.L710M	p.L710M	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2128	+			710			Helical; (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.2128C>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	12.11	1.839874	0.32513	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.25414	1.8;1.8	3.99	3.09	0.35607	.	0.000000	0.33040	U	0.005352	T	0.57946	0.2088	H	0.96777	3.88	0.22961	N	0.998502	D;D	0.89917	0.998;1.0	D;D	0.80764	0.985;0.994	T	0.54450	-0.8292	10	0.87932	D	0	.	5.5154	0.16904	0.0:0.5064:0.3201:0.1735	.	710;710	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	M	710	ENSP00000429808:L710M;ENSP00000434086:L710M	ENSP00000429808:L710M	L	+	1	2	PCDHA3	140163094	0.306000	0.24490	1.000000	0.80357	0.022000	0.10575	0.409000	0.21082	1.940000	0.56252	0.467000	0.42956	CTG		0.657	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		9	99	1	0	0.000442599	0.006214	0.000527744	9	99				
PCDHA5	56143	broad.mit.edu	37	5	140202993	140202993	+	Missense_Mutation	SNP	G	G	A	rs143450009		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:140202993G>A	ENST00000529859.1	+	1	1633	c.1633G>A	c.(1633-1635)Ggc>Agc	p.G545S	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.G545S|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G545S|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	545	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCCTCTGGGCAGCAACGT	0.701													.|||	1	0.000199681	0.0008	0.0	5008	,	,		16562	0.0		0.0	False		,,,				2504	0.0						uc003lhl.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1633-1635)GGC>AGC		protocadherin alpha 5 isoform 1 precursor		G	,,,,SER/GLY,,SER/GLY	5,4393		0,5,2194	48.0	55.0	53.0		,,,,1633,,1633	3.0	1.0	5	dbSNP_134	53	0,8578		0,0,4289	no	intron,intron,intron,intron,missense,intron,missense	PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_031411.1,NM_031501.1	,,,,56,,56	0,5,6483	AA,AG,GG		0.0,0.1137,0.0385	,,,,,,	,,,,545/937,,545/817	140202993	5,12971	2199	4289	6488	SO:0001583	missense	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140202993G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1633G>A	5.37:g.140202993G>A	ENSP00000436557:p.Gly545Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.G545S|PCDHA5_uc003lhj.1_Missense_Mutation_p.G545S	p.G545S	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1633	+			545			Extracellular (Potential).|Cadherin 5.		O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1633G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.892477	0.00522	0.001137	0.0	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.45276	0.9;0.9;0.9	3.86	2.96	0.34315	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.07143	0.0181	N	0.00041	-2.485	0.22489	N	0.999058	B;B;B	0.22683	0.023;0.073;0.028	B;B;B	0.17979	0.016;0.02;0.02	T	0.30563	-0.9974	9	0.09590	T	0.72	.	4.2141	0.10526	0.1722:0.0:0.3843:0.4435	.	545;545;545	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	S	545	ENSP00000433416:G545S;ENSP00000436557:G545S;ENSP00000367366:G545S	ENSP00000367366:G545S	G	+	1	0	PCDHA5	140183177	0.936000	0.31750	0.995000	0.50966	0.038000	0.13279	1.258000	0.32944	0.713000	0.32060	-0.534000	0.04291	GGC		0.701	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		11	73	0	0	0	0.001855	0	11	73				
PCDHGA3	56112	broad.mit.edu	37	5	140723874	140723874	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:140723874C>A	ENST00000253812.6	+	1	274	c.274C>A	c.(274-276)Cgg>Agg	p.R92R	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	92	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGATAGACCGGGAGGAGCT	0.498																																							uc003ljm.1		NA																	0				breast(1)	1						c.(274-276)CGG>AGG		protocadherin gamma subfamily A, 3 isoform 1							42.0	50.0	47.0					5																	140723874		2150	4282	6432	SO:0001819	synonymous_variant	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140723874C>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.274C>A	5.37:g.140723874C>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Silent_p.R92R	p.R92R	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	274	+			92			Cadherin 1.|Extracellular (Potential).		Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.274C>A	CCDS47290.1																																																																																				0.498	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		10	46	1	0	0.00621372	0.006214	0.00680738	10	46				
PCDHGA7	56108	broad.mit.edu	37	5	140763824	140763824	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:140763824C>T	ENST00000518325.1	+	1	1358	c.1358C>T	c.(1357-1359)cCc>cTc	p.P453L	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	453	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)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACCTTCCCCCACTCATCC	0.527																																							uc003lka.1		NA																	0					0						c.(1357-1359)CCC>CTC		protocadherin gamma subfamily A, 7 isoform 1							71.0	75.0	74.0					5																	140763824		1981	4158	6139	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140763824C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1358C>T	5.37:g.140763824C>T	ENSP00000430024:p.Pro453Leu					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_uc003ljz.1_Missense_Mutation_p.P453L	p.P453L	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1358	+			453			Extracellular (Potential).|Cadherin 5.		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.1358C>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	0.243	-1.012304	0.02095	.	.	ENSG00000253537	ENST00000518325	T	0.01629	4.72	5.39	-1.01	0.10169	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.01124	0.0037	N	0.11845	0.185	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.10450	0.003;0.005	T	0.47235	-0.9133	9	0.35671	T	0.21	.	4.4097	0.11427	0.3363:0.3429:0.0:0.3208	.	453;453	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	L	453	ENSP00000430024:P453L	ENSP00000430024:P453L	P	+	2	0	PCDHGA7	140744008	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.341000	0.07811	0.065000	0.16485	-0.157000	0.13467	CCC		0.527	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		6	38	0	0	0	0.001168	0	6	38				
FAT2	2196	broad.mit.edu	37	5	150901610	150901610	+	Missense_Mutation	SNP	G	G	T	rs142141788		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:150901610G>T	ENST00000261800.5	-	18	10556	c.10544C>A	c.(10543-10545)aCg>aAg	p.T3515K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3515	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGGACAGACGTCAAAGACGA	0.562																																							uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(10543-10545)ACG>AAG		FAT tumor suppressor 2 precursor							47.0	42.0	44.0					5																	150901610		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150901610G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10544C>A	5.37:g.150901610G>T	ENSP00000261800:p.Thr3515Lys					GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.T208K	p.T3515K	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		18	10557	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3515			Extracellular (Potential).|Cadherin 31.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.10544C>A	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.72|13.72	2.320189|2.320189	0.41096|0.41096	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000520200|ENST00000261800	.|T	.|0.56611	.|0.45	5.14|5.14	5.14|5.14	0.70334|0.70334	.|Cadherin (4);Cadherin-like (1);	.|0.099447	.|0.43579	.|D	.|0.000551	T|T	0.58552|0.58552	0.2130|0.2130	L|L	0.46157|0.46157	1.445|1.445	0.23607|0.23607	N|N	0.997304|0.997304	.|P;D	.|0.54601	.|0.877;0.967	.|P;P	.|0.51516	.|0.672;0.645	T|T	0.53982|0.53982	-0.8361|-0.8361	5|10	.|0.38643	.|T	.|0.18	.|.	18.9758|18.9758	0.92736|0.92736	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3515;706	.|Q9NYQ8;E9PDJ8	.|FAT2_HUMAN;.	E|K	373|3515	.|ENSP00000261800:T3515K	.|ENSP00000261800:T3515K	D|T	-|-	3|2	2|0	FAT2|FAT2	150881803|150881803	1.000000|1.000000	0.71417|0.71417	0.057000|0.057000	0.19452|0.19452	0.210000|0.210000	0.24377|0.24377	5.905000|5.905000	0.69893|0.69893	2.561000|2.561000	0.86390|0.86390	0.563000|0.563000	0.77884|0.77884	GAC|ACG		0.562	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		5	9	1	0	3.59834e-05	0.001168	4.69764e-05	5	9				
GLRA1	2741	broad.mit.edu	37	5	151239524	151239524	+	Missense_Mutation	SNP	G	G	T	rs281864915		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:151239524G>T	ENST00000455880.2	-	4	584	c.298C>A	c.(298-300)Cgc>Agc	p.R100S	GLRA1_ENST00000545569.1_Missense_Mutation_p.R17S|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000274576.4_Missense_Mutation_p.R100S			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	100					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TAGGCCAGGCGGGGGTCGTTC	0.522																																							uc003lut.2		NA																	0				ovary(1)|central_nervous_system(1)	2	GRCh37	CD013164	GLRA1	D		c.(298-300)CGC>AGC		glycine receptor, alpha 1 isoform 1 precursor	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						84.0	87.0	86.0					5																	151239524		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151239524G>T		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.298C>A	5.37:g.151239524G>T	ENSP00000411593:p.Arg100Ser					GLRA1_uc003lur.2_Missense_Mutation_p.R100S|GLRA1_uc003lus.2_Missense_Mutation_p.R17S	p.R100S	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		4	585	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	100			Extracellular (Probable).		B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.298C>A	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081819	0.94050	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.81499	-1.5;-1.5;-1.5	5.38	5.38	0.77491	Neurotransmitter-gated ion-channel ligand-binding (3);	0.058748	0.64402	D	0.000002	D	0.92344	0.7571	M	0.94101	3.495	0.80722	D	1	D;D;D	0.58970	0.971;0.984;0.964	D;D;P	0.65684	0.937;0.937;0.897	D	0.93863	0.7155	10	0.87932	D	0	.	19.5013	0.95095	0.0:0.0:1.0:0.0	.	100;17;100	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	S	100;100;17	ENSP00000274576:R100S;ENSP00000411593:R100S;ENSP00000445913:R17S	ENSP00000274576:R100S	R	-	1	0	GLRA1	151219717	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.680000	0.84062	2.677000	0.91161	0.563000	0.77884	CGC		0.522	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			10	44	1	0	2.17888e-05	0.006214	2.89955e-05	10	44				
RANBP17	64901	broad.mit.edu	37	5	170341170	170341170	+	Splice_Site	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:170341170G>T	ENST00000523189.1	+	8	924		c.e8-1			NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17						mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTTTTCCCAGTTTTCCTGGA	0.333			T	TRD@	ALL																																		uc003mba.2		NA		Dom	yes		5	5q34	64901	T	RAN binding protein 17			L	TRD@		ALL		0				ovary(2)|central_nervous_system(1)	3						c.e8-1		RAN binding protein 17							66.0	67.0	67.0					5																	170341170		2200	4289	6489	SO:0001630	splice_region_variant	64901				mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	g.chr5:170341170G>T	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.761-1G>T	5.37:g.170341170G>T						RANBP17_uc003max.1_Splice_Site|RANBP17_uc003may.1_Splice_Site|RANBP17_uc003maz.1_Splice_Site|RANBP17_uc010jjr.1_Splice_Site	p.I254_splice	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		8	777	+	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)						Q8IU74	Splice_Site	SNP	ENST00000523189.1	37	c.761_splice	CCDS34287.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398581	0.42512	.	.	ENSG00000204764	ENST00000523189;ENST00000545246;ENST00000522734	.	.	.	5.33	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0681	0.72011	0.0:0.0:0.8567:0.1433	.	.	.	.	.	-1	.	.	.	+	.	.	RANBP17	170273748	1.000000	0.71417	0.981000	0.43875	0.513000	0.34164	8.535000	0.90623	1.339000	0.45563	0.561000	0.74099	.		0.333	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372036.1	NM_022897	Intron	3	32	1	0	0.00024832	0.009096	0.000303453	3	32				
STC2	8614	broad.mit.edu	37	5	172745171	172745171	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:172745171C>T	ENST00000265087.4	-	4	1897	c.588G>A	c.(586-588)caG>caA	p.Q196Q	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	196					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTGCTCACACTGAACCTGCA	0.612																																							uc003mco.1		NA																	0				skin(2)|ovary(1)	3						c.(586-588)CAG>CAA		stanniocalcin 2 precursor							57.0	47.0	50.0					5																	172745171		2203	4300	6503	SO:0001819	synonymous_variant	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172745171C>T	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.588G>A	5.37:g.172745171C>T						STC2_uc003mcn.1_Silent_p.Q111Q	p.Q196Q	NM_003714	NP_003705	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		4	1898	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	196						Silent	SNP	ENST00000265087.4	37	c.588G>A	CCDS4388.1																																																																																				0.612	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		11	13	0	0	0	0.010729	0	11	13				
CDHR2	54825	broad.mit.edu	37	5	176017662	176017663	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:176017662_176017663CA>AT	ENST00000510636.1	+	28	3787_3788	c.3513_3514CA>AT	c.(3511-3516)acCAtg>acATtg	p.M1172L	CDHR2_ENST00000261944.5_Missense_Mutation_p.M1172L|CDHR2_ENST00000506348.1_Missense_Mutation_p.M1172L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1172					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGATCATGACCATGGCCTTCGT	0.594																																							uc003mem.1		NA																	0				ovary(2)	2						c.(3511-3516)ACCATG>ACATTG		protocadherin LKC precursor																																				SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176017662_176017663CA>AT	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		Exception_encountered	5.37:g.176017662_176017663delinsAT	ENSP00000424565:p.Met1172Leu					CDHR2_uc003men.1_Missense_Mutation_p.M1172L	p.M1172L	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN			28	3579_3580	+			1172			Helical; (Potential).		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	DNP	ENST00000510636.1	37	c.3513_3514CA>AT	CCDS34297.1																																																																																				0.594	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		4	45	0	0	0	0.004672	0	4	45				
FLT4	2324	broad.mit.edu	37	5	180057088	180057088	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:180057088C>T	ENST00000261937.6	-	5	609	c.531G>A	c.(529-531)tgG>tgA	p.W177*	FLT4_ENST00000393347.3_Nonsense_Mutation_p.W177*|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Nonsense_Mutation_p.W177*	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	177	Ig-like C2-type 2.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCCCGTCTGGCCACAGCACCG	0.672																																					Colon(97;1075 1466 27033 27547 35871)	Colon(97;1075 1466 27033 27547 35871)	uc003mma.3		NA																	0				lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(529-531)TGG>TGA		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						58.0	56.0	57.0					5																	180057088		2201	4295	6496	SO:0001587	stop_gained	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180057088C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.531G>A	5.37:g.180057088C>T	ENSP00000261937:p.Trp177*					FLT4_uc003mlz.3_Nonsense_Mutation_p.W177*|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Nonsense_Mutation_p.W177*|FLT4_uc011dgz.1_Nonsense_Mutation_p.W177*|FLT4_uc011dha.1_Missense_Mutation_p.G161D	p.W177*	NM_002020	NP_002011	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	5	610	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	177			Ig-like C2-type 2.|Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Nonsense_Mutation	SNP	ENST00000261937.6	37	c.531G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854118	0.91355	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	.	.	.	5.16	2.14	0.27477	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	3.2687	0.06874	0.2377:0.3877:0.2899:0.0846	.	.	.	.	X	177	.	ENSP00000261937:W177X	W	-	3	0	FLT4	179989694	0.073000	0.21202	0.354000	0.25760	0.992000	0.81027	0.204000	0.17335	0.647000	0.30713	0.561000	0.74099	TGG		0.672	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			6	33	0	0	0	0.001984	0	6	33				
ZKSCAN3	80317	broad.mit.edu	37	6	28327735	28327735	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:28327735G>T	ENST00000377255.3	+	3	669	c.372G>T	c.(370-372)ttG>ttT	p.L124F	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.L124F|ZKSCAN3_ENST00000341464.5_Intron	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	124	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TGGAGTATTTGGAGAGGCAGC	0.582																																							uc003nle.3		NA																	0				skin(2)	2						c.(370-372)TTG>TTT		zinc finger with KRAB and SCAN domains 3							23.0	26.0	25.0					6																	28327735		2202	4296	6498	SO:0001583	missense	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28327735G>T	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	ENST00000377255.3:c.372G>T	6.37:g.28327735G>T	ENSP00000366465:p.Leu124Phe					ZKSCAN3_uc010jrc.2_Missense_Mutation_p.L124F|ZKSCAN3_uc003nlf.3_Intron	p.L124F	NM_024493	NP_077819	Q9BRR0	ZKSC3_HUMAN			2	588	+			124			SCAN box.		B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Missense_Mutation	SNP	ENST00000377255.3	37	c.372G>T	CCDS4650.1	.	.	.	.	.	.	.	.	.	.	.	16.03	3.008308	0.54361	.	.	ENSG00000189298	ENST00000252211;ENST00000454413;ENST00000377255	T;T	0.07114	3.22;3.22	3.64	3.64	0.41730	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.16471	0.0396	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01608	-1.1313	9	0.30078	T	0.28	.	10.9965	0.47580	0.0:0.0:1.0:0.0	.	124	Q9BRR0	ZKSC3_HUMAN	F	124	ENSP00000252211:L124F;ENSP00000366465:L124F	ENSP00000252211:L124F	L	+	3	2	ZKSCAN3	28435714	0.999000	0.42202	0.537000	0.28052	0.958000	0.62258	3.316000	0.51960	2.038000	0.60285	0.404000	0.27445	TTG		0.582	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	NM_024493		6	27	1	0	9.70103e-10	0.008291	1.58912e-09	6	27				
OR10C1	442194	broad.mit.edu	37	6	29408311	29408311	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:29408311C>A	ENST00000444197.2	+	1	1229	c.519C>A	c.(517-519)atC>atA	p.I173I	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCAATACCATCCCGCAGTTCT	0.587																																							uc011dlp.1		NA																	0					0						c.(517-519)ATC>ATA		olfactory receptor, family 10, subfamily C,							129.0	141.0	137.0					6																	29408311		1510	2708	4218	SO:0001819	synonymous_variant	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408311C>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.519C>A	6.37:g.29408311C>A						OR11A1_uc010jrh.1_Intron	p.I173I	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			1	519	+			173			Extracellular (Potential).		Q5SUN7|Q96R18	Silent	SNP	ENST00000444197.2	37	c.519C>A	CCDS34364.1																																																																																				0.587	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			39	69	1	0	1.04594e-18	0.00623	2.02137e-18	39	69				
OR2H1	26716	broad.mit.edu	37	6	29429607	29429607	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:29429607C>A	ENST00000377136.1	+	4	526	c.61C>A	c.(61-63)Ctg>Atg	p.L21M	OR2H1_ENST00000396792.2_Missense_Mutation_p.L21M|OR2H1_ENST00000377132.1_Missense_Mutation_p.L21M|OR2H1_ENST00000442615.1_Missense_Mutation_p.L21M|OR2H1_ENST00000377133.1_Missense_Mutation_p.L21M|OR2H1_ENST00000473369.1_Intron			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						ACACCCAGCACTGGAAAGGAC	0.537																																							uc003nmi.2		NA																	0					0						c.(61-63)CTG>ATG		olfactory receptor, family 2, subfamily H,							200.0	201.0	201.0					6																	29429607		1511	2709	4220	SO:0001583	missense	26716				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29429607C>A	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"""GPCR / Class A : Olfactory receptors"""	8252	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily H, member 8"""	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.61C>A	6.37:g.29429607C>A	ENSP00000366340:p.Leu21Met					OR2H1_uc003nmj.1_Missense_Mutation_p.L21M|OR2H1_uc010jri.1_Intron	p.L21M	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN			3	504	+			21			Extracellular (Potential).		B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	c.61C>A	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	C	4.933	0.173380	0.09391	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.03330	3.97;3.97;3.97;3.97;3.97	2.88	1.06	0.20224	.	0.000000	0.33834	N	0.004519	T	0.05456	0.0144	M	0.74389	2.26	0.09310	N	1	D	0.65815	0.995	D	0.63488	0.915	T	0.13818	-1.0495	10	0.72032	D	0.01	.	6.9442	0.24510	0.0:0.6834:0.0:0.3166	.	21	Q9GZK4	OR2H1_HUMAN	M	21	ENSP00000366340:L21M;ENSP00000366337:L21M;ENSP00000393254:L21M;ENSP00000366336:L21M;ENSP00000380010:L21M	ENSP00000366336:L21M	L	+	1	2	OR2H1	29537586	0.000000	0.05858	0.053000	0.19242	0.336000	0.28762	-0.471000	0.06631	0.265000	0.21872	-0.199000	0.12753	CTG		0.537	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			16	155	1	0	1.45105e-14	0.006122	2.69817e-14	16	155				
PACSIN1	29993	broad.mit.edu	37	6	34497300	34497300	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:34497300G>T	ENST00000538621.1	+	5	828	c.583G>T	c.(583-585)Gtg>Ttg	p.V195L	PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000244458.2_Missense_Mutation_p.V195L|PACSIN1_ENST00000374043.2_Missense_Mutation_p.V153L	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	195	F-BAR domain.				actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GCAGGACAAAGTGGACAAGTG	0.587																																							uc003ojo.2		NA																	0					0						c.(583-585)GTG>TTG		protein kinase C and casein kinase substrate in							106.0	87.0	93.0					6																	34497300		2203	4300	6503	SO:0001583	missense	29993				endocytosis		protein kinase activity	g.chr6:34497300G>T	AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.583G>T	6.37:g.34497300G>T	ENSP00000439639:p.Val195Leu					PACSIN1_uc003ojp.2_Missense_Mutation_p.V195L	p.V195L	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN			5	789	+			195			Potential.		Q9P2G8	Missense_Mutation	SNP	ENST00000538621.1	37	c.583G>T	CCDS4793.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130909	0.56828	.	.	ENSG00000124507	ENST00000244458;ENST00000374043;ENST00000436831;ENST00000538621	T;T;T	0.45668	0.89;0.89;0.89	3.83	2.96	0.34315	.	0.320209	0.29328	N	0.012476	T	0.10937	0.0267	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.19778	-1.0295	10	0.02654	T	1	-0.3309	11.1682	0.48556	0.0924:0.0:0.9076:0.0	.	195	Q9BY11	PACN1_HUMAN	L	195;153;195;195	ENSP00000244458:V195L;ENSP00000363155:V153L;ENSP00000439639:V195L	ENSP00000244458:V195L	V	+	1	0	PACSIN1	34605278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.340000	0.72973	0.949000	0.37715	0.557000	0.71058	GTG		0.587	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040236.1			15	32	1	0	3.45872e-05	0.004007	4.55862e-05	15	32				
PPIL1	51645	broad.mit.edu	37	6	36839662	36839662	+	Intron	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:36839662G>T	ENST00000373699.5	-	2	308				C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000359359.2_5'UTR	NM_016059.4	NP_057143.1	Q9Y3C6	PPIL1_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 1						mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			lung(1)|ovary(1)	2						CAGAGGGAGAGGACAACAGCT	0.463																																							uc003omv.2		NA																	0				ovary(1)	1						c.(-651--647)GAGGA>GATGA		SubName: Full=Chromosome 6 open reading frame 89; SubName: Full=Chromosome 6 open reading frame 89, isoform CRA_a;							65.0	56.0	59.0					6																	36839662		2203	4300	6503	SO:0001627	intron_variant	221477					integral to membrane		g.chr6:36839662G>T	AF090992	CCDS4826.1	6p21.1	2008-08-29			ENSG00000137168	ENSG00000137168			9260	protein-coding gene	gene with protein product		601301				10072585, 8978786	Standard	NM_016059		Approved	CYPL1	uc003omu.2	Q9Y3C6	OTTHUMG00000014612	ENST00000373699.5:c.57-14C>A	6.37:g.36839662G>T						PPIL1_uc003omu.2_Intron				Q6UWU4	CF089_HUMAN			1	17	+								O15001|Q5TDC9	Translation_Start_Site	SNP	ENST00000373699.5	37	c.-649G>T	CCDS4826.1																																																																																				0.463	PPIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040382.1			7	25	1	0	1.6384e-10	0.001984	2.76279e-10	7	25				
GLP1R	2740	broad.mit.edu	37	6	39034045	39034045	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:39034045C>A	ENST00000373256.4	+	5	518	c.475C>A	c.(475-477)Ctg>Atg	p.L159M		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	159					activation of adenylate cyclase activity (GO:0007190)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|learning or memory (GO:0007611)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of heart contraction (GO:0008016)|regulation of insulin secretion (GO:0050796)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucagon receptor activity (GO:0004967)|transmembrane signaling receptor activity (GO:0004888)			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)|Liraglutide(DB06655)	CTTCTCTGCTCTGGTTATCGC	0.597																																							uc003ooj.3		NA																	0				lung(3)|breast(1)|pancreas(1)	5						c.(475-477)CTG>ATG		glucagon-like peptide 1 receptor precursor	Exenatide(DB01276)|Glucagon recombinant(DB00040)						173.0	129.0	144.0					6																	39034045		2203	4300	6503	SO:0001583	missense	2740				activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	g.chr6:39034045C>A		CCDS4839.1	6p21	2012-08-10			ENSG00000112164	ENSG00000112164		"""GPCR / Class B : Glucagon receptors"""	4324	protein-coding gene	gene with protein product		138032					Standard	NM_002062		Approved		uc003ooj.4	P43220	OTTHUMG00000014638	ENST00000373256.4:c.475C>A	6.37:g.39034045C>A	ENSP00000362353:p.Leu159Met					GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA	p.L159M	NM_002062	NP_002053	P43220	GLP1R_HUMAN			5	535	+			159			Helical; Name=1; (Potential).		Q2M229|Q99669	Missense_Mutation	SNP	ENST00000373256.4	37	c.475C>A	CCDS4839.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015247	0.35511	.	.	ENSG00000112164	ENST00000373256	T	0.37235	1.21	4.77	2.55	0.30701	GPCR, family 2-like (1);	0.357244	0.20317	N	0.094704	T	0.48205	0.1487	M	0.83852	2.665	0.37315	D	0.909294	D	0.63880	0.993	D	0.68765	0.96	T	0.56032	-0.8046	10	0.87932	D	0	.	9.7522	0.40483	0.0:0.8003:0.0:0.1997	.	159	P43220	GLP1R_HUMAN	M	159	ENSP00000362353:L159M	ENSP00000362353:L159M	L	+	1	2	GLP1R	39142023	0.859000	0.29813	0.874000	0.34290	0.046000	0.14306	1.596000	0.36718	0.980000	0.38523	0.650000	0.86243	CTG		0.597	GLP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040443.1			6	29	1	0	3.59834e-05	0.001168	4.69764e-05	6	29				
LRFN2	57497	broad.mit.edu	37	6	40400435	40400436	+	Missense_Mutation	DNP	CG	CG	TT	rs139467631	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:40400435_40400436CG>TT	ENST00000338305.6	-	2	959_960	c.417_418CG>AA	c.(415-420)atCGca>atAAca	p.A140T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	140						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCTCATCTGCGATGCCGCCCA	0.589																																							uc003oph.1		NA																	0				ovary(2)|skin(1)	3						c.(415-420)ATCGCA>ATAACA		leucine rich repeat and fibronectin type III																																				SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40400435_40400436CG>TT	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.417_418delinsTT	6.37:g.40400435_40400436delinsTT	ENSP00000345985:p.Ala140Thr						p.A140T	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			2	882_883	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		140			LRR 4.|Extracellular (Potential).		A5PKU3|Q5SYP9	Missense_Mutation	DNP	ENST00000338305.6	37	c.417_418CG>AA	CCDS34443.1																																																																																				0.589	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372		11	19	0	0	0	0.004672	0	11	19				
GPR111	222611	broad.mit.edu	37	6	47649585	47649585	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:47649585C>A	ENST00000296862.1	+	6	1290	c.1290C>A	c.(1288-1290)acC>acA	p.T430T	GPR111_ENST00000507065.1_Silent_p.T362T|GPR111_ENST00000398742.2_Silent_p.T362T			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	430	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AATTGTTTACCTCTTTCTCAA	0.438																																							uc010jzj.1		NA																	0				skin(1)	1						c.(1288-1290)ACC>ACA		G-protein coupled receptor 111							152.0	142.0	145.0					6																	47649585		1927	4130	6057	SO:0001819	synonymous_variant	222611				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47649585C>A	AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.1290C>A	6.37:g.47649585C>A						GPR111_uc010jzk.1_Silent_p.T362T|GPR111_uc003oyy.2_RNA	p.T430T	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN			6	1291	+			430			Extracellular (Potential).|GPS.		Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP	ENST00000296862.1	37	c.1290C>A																																																																																					0.438	GPR111-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000106423.2	NM_153839		7	61	1	0	0.00448238	0.004482	0.00501444	7	61				
GPR115	221393	broad.mit.edu	37	6	47681803	47681803	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:47681803G>T	ENST00000283303.2	+	6	1080	c.822G>T	c.(820-822)caG>caT	p.Q274H	GPR115_ENST00000327753.3_Missense_Mutation_p.Q274H|GPR115_ENST00000371220.1_Missense_Mutation_p.Q331H|RN7SKP116_ENST00000516902.1_RNA	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	274					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GAATGGTACAGATTCCCAGGC	0.458																																					GBM(22;431 510 9010 26644 32828)	GBM(22;431 510 9010 26644 32828)	uc003oza.1		NA																	0				ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8						c.(820-822)CAG>CAT		G-protein coupled receptor 115 precursor							59.0	60.0	60.0					6																	47681803		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47681803G>T	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.822G>T	6.37:g.47681803G>T	ENSP00000283303:p.Gln274His					GPR115_uc003oyz.1_Missense_Mutation_p.Q331H|GPR115_uc003ozb.1_Missense_Mutation_p.Q272H	p.Q274H	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN			6	1080	+			274			Extracellular (Potential).		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.822G>T	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	G	2.128	-0.399759	0.04865	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.34472	1.59;1.36;1.36	5.19	2.45	0.29901	.	0.419896	0.22925	N	0.053963	T	0.08626	0.0214	N	0.22421	0.69	0.26130	N	0.980425	B	0.27450	0.179	B	0.33750	0.169	T	0.26780	-1.0093	10	0.24483	T	0.36	-18.6662	4.451	0.11621	0.4721:0.2877:0.2402:0.0	.	274	Q8IZF3	GP115_HUMAN	H	331;274;274	ENSP00000360264:Q331H;ENSP00000328319:Q274H;ENSP00000283303:Q274H	ENSP00000283303:Q274H	Q	+	3	2	GPR115	47789762	0.998000	0.40836	0.996000	0.52242	0.051000	0.14879	0.425000	0.21346	0.822000	0.34565	-0.345000	0.07892	CAG		0.458	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	NM_153838		18	26	1	0	2.35188e-11	0.006122	4.0861e-11	18	26				
PGK2	5232	broad.mit.edu	37	6	49754005	49754005	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:49754005C>T	ENST00000304801.3	-	1	1048	c.896G>A	c.(895-897)gGa>gAa	p.G299E		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	299					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)			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)					AGTGGCTTTTCCAACCTGAGC	0.453																																							uc003ozu.2		NA																	0				ovary(1)	1						c.(895-897)GGA>GAA		phosphoglycerate kinase 2							148.0	146.0	147.0					6																	49754005		2203	4300	6503	SO:0001583	missense	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754005C>T	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.896G>A	6.37:g.49754005C>T	ENSP00000305995:p.Gly299Glu						p.G299E	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	1003	-	Lung NSC(77;0.0402)		299					B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	c.896G>A	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.380566	0.24944	.	.	ENSG00000170950	ENST00000304801	D	0.91843	-2.92	4.19	4.19	0.49359	Phosphoglycerate kinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81997	0.4941	N	0.20357	0.565	0.58432	D	0.999993	B	0.27380	0.177	B	0.32677	0.15	T	0.81378	-0.0960	10	0.45353	T	0.12	-14.4494	14.804	0.69938	0.0:1.0:0.0:0.0	.	299	P07205	PGK2_HUMAN	E	299	ENSP00000305995:G299E	ENSP00000305995:G299E	G	-	2	0	PGK2	49861964	0.999000	0.42202	0.615000	0.29064	0.197000	0.23852	4.246000	0.58740	2.619000	0.88677	0.585000	0.79938	GGA		0.453	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			47	87	0	0	0	0.01441	0	47	87				
TFAP2B	7021	broad.mit.edu	37	6	50810845	50810845	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:50810845C>A	ENST00000393655.3	+	7	1292	c.1123C>A	c.(1123-1125)Cgg>Agg	p.R375R	TFAP2B_ENST00000263046.4_Silent_p.R384R	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	375				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047). {ECO:0000305}.	aorta morphogenesis (GO:0035909)|calcium ion homeostasis (GO:0055074)|cellular ammonia homeostasis (GO:0097275)|cellular creatinine homeostasis (GO:0097276)|cellular urea homeostasis (GO:0097277)|collecting duct development (GO:0072044)|distal tubule development (GO:0072017)|ductus arteriosus closure (GO:0097070)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|hindlimb morphogenesis (GO:0035137)|kidney development (GO:0001822)|magnesium ion homeostasis (GO:0010960)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphate ion homeostasis (GO:0055062)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|potassium ion homeostasis (GO:0055075)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell differentiation (GO:0045595)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|renal water homeostasis (GO:0003091)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|retina layer formation (GO:0010842)|skin development (GO:0043588)|sodium ion homeostasis (GO:0055078)|sympathetic nervous system development (GO:0048485)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GGCGCAGGACCGGACACCGAT	0.592																																					Pancreas(116;1373 2332 5475 10752)	Pancreas(116;1373 2332 5475 10752)	uc003pag.2		NA																	0					0						c.(1123-1125)CGG>AGG		transcription factor AP-2 beta							83.0	90.0	87.0					6																	50810845		2203	4300	6503	SO:0001819	synonymous_variant	7021				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr6:50810845C>A	X95694	CCDS4934.2	6p12	2008-02-05	2001-11-28		ENSG00000008196	ENSG00000008196			11743	protein-coding gene	gene with protein product		601601	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)"""			7555706, 8661133	Standard	NM_003221		Approved	AP2-B	uc003pag.3	Q92481	OTTHUMG00000014836	ENST00000393655.3:c.1123C>A	6.37:g.50810845C>A							p.R375R	NM_003221	NP_003212	Q92481	AP2B_HUMAN			7	1289	+	Lung NSC(77;0.156)		375	QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).				Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	ENST00000393655.3	37	c.1123C>A	CCDS4934.2																																																																																				0.592	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040886.3	NM_003221		30	98	1	0	1.7881e-09	0.008361	2.86763e-09	30	98				
COL19A1	1310	broad.mit.edu	37	6	70900066	70900066	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:70900066G>A	ENST00000322773.4	+	48	3177	c.3075G>A	c.(3073-3075)gaG>gaA	p.E1025E	COL19A1_ENST00000393344.1_Silent_p.E647E	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1025					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.E1025D(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTAATCAAGAGGTCCTAAGGA	0.338																																							uc003pfc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(3073-3075)GAG>GAA		alpha 1 type XIX collagen precursor							61.0	63.0	63.0					6																	70900066		2203	4300	6503	SO:0001819	synonymous_variant	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70900066G>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3075G>A	6.37:g.70900066G>A							p.E1025E	NM_001858	NP_001849	Q14993	COJA1_HUMAN			48	3192	+			1025					Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.3075G>A	CCDS4970.1																																																																																				0.338	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			4	12	0	0	0	0.000602	0	4	12				
SCML4	256380	broad.mit.edu	37	6	108066261	108066261	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:108066261G>T	ENST00000369020.3	-	5	819	c.574C>A	c.(574-576)Ctg>Atg	p.L192M	SCML4_ENST00000369022.2_Missense_Mutation_p.L134M|SCML4_ENST00000369021.3_Missense_Mutation_p.L163M|SCML4_ENST00000479803.1_5'Flank	NM_198081.3	NP_932347.2	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		CTTCGGCACAGCTTGGCGAGG	0.592																																							uc010kdf.2		NA																	0				ovary(1)	1						c.(574-576)CTG>ATG		sex comb on midleg-like 4							58.0	50.0	53.0					6																	108066261		2203	4300	6503	SO:0001583	missense	256380				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:108066261G>T		CCDS5060.2, CCDS69163.1, CCDS75500.1	6q21	2013-01-10			ENSG00000146285	ENSG00000146285		"""Sterile alpha motif (SAM) domain containing"""	21397	protein-coding gene	gene with protein product							Standard	NM_001286409		Approved	dJ47M23.1	uc010kdf.3	Q8N228	OTTHUMG00000015313	ENST00000369020.3:c.574C>A	6.37:g.108066261G>T	ENSP00000358016:p.Leu192Met					SCML4_uc003prz.3_Missense_Mutation_p.L134M|SCML4_uc011eam.1_Missense_Mutation_p.L192M|SCML4_uc003psa.3_Missense_Mutation_p.L163M	p.L192M	NM_198081	NP_932347	Q8N228	SCML4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)	5	825	-		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)	192					B0QZ10|B0QZ11|B7ZBX3|Q5JXD0|Q5T0T6|Q8IYY6	Missense_Mutation	SNP	ENST00000369020.3	37	c.574C>A	CCDS5060.2	.	.	.	.	.	.	.	.	.	.	G	17.31	3.357198	0.61293	.	.	ENSG00000146285	ENST00000369022;ENST00000369020;ENST00000369021;ENST00000440927	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.38	4.5	0.54988	.	0.070231	0.56097	D	0.000021	T	0.55481	0.1923	M	0.67569	2.06	0.58432	D	0.999993	D;P;D	0.76494	0.997;0.933;0.999	D;P;D	0.71870	0.975;0.812;0.971	T	0.61232	-0.7104	10	0.59425	D	0.04	.	12.5289	0.56102	0.1396:0.0:0.8604:0.0	.	192;192;163	B4E0X3;Q8N228;Q8N228-3	.;SCML4_HUMAN;.	M	134;192;163;163	ENSP00000358018:L134M;ENSP00000358016:L192M;ENSP00000358017:L163M;ENSP00000404688:L163M	ENSP00000358016:L192M	L	-	1	2	SCML4	108172954	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	4.318000	0.59190	1.475000	0.48197	0.655000	0.94253	CTG		0.592	SCML4-005	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000041700.3	XM_171128		3	13	1	0	0.004672	0.004672	0.00515945	3	13				
DCBLD1	285761	broad.mit.edu	37	6	117864336	117864336	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:117864336G>T	ENST00000338728.5	+	12	1527	c.1407G>T	c.(1405-1407)ctG>ctT	p.L469L	DCBLD1_ENST00000368503.4_Silent_p.L270L|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000534777.1_Intron|DCBLD1_ENST00000296955.8_Silent_p.L469L			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	469					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TTGTTGTCCTGGTGTTTGCTG	0.378																																							uc003pxs.2		NA																	0				ovary(1)	1						c.(1405-1407)CTG>CTT		discoidin, CUB and LCCL domain containing 1							290.0	269.0	276.0					6																	117864336		2203	4300	6503	SO:0001819	synonymous_variant	285761				cell adhesion	integral to membrane		g.chr6:117864336G>T	AK055462	CCDS34522.1	6q22.31	2003-06-20			ENSG00000164465	ENSG00000164465			21479	protein-coding gene	gene with protein product							Standard	NM_173674		Approved	MGC46341, dJ94G16.1	uc003pxs.3	Q8N8Z6	OTTHUMG00000015455	ENST00000338728.5:c.1407G>T	6.37:g.117864336G>T						GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.L469L|DCBLD1_uc003pxt.1_Silent_p.L124L	p.L469L	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)	12	1532	+		all_cancers(87;0.171)	469			Helical; (Potential).		Q5H992|Q8IYK5|Q8N7L9|Q96NH2	Silent	SNP	ENST00000338728.5	37	c.1407G>T																																																																																					0.378	DCBLD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000041979.2	NM_173674		20	71	1	0	3.62473e-10	0.012319	6.02371e-10	20	71				
ECHDC1	55862	broad.mit.edu	37	6	127611329	127611329	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:127611329G>T	ENST00000531967.1	-	6	1112	c.609C>A	c.(607-609)atC>atA	p.I203I	ECHDC1_ENST00000454591.2_Silent_p.I122I|ECHDC1_ENST00000430841.2_Silent_p.I197I|ECHDC1_ENST00000309620.9_Silent_p.I180I|ECHDC1_ENST00000488087.1_5'UTR|ECHDC1_ENST00000368289.2_3'UTR|ECHDC1_ENST00000454859.3_Silent_p.I197I|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000474289.2_Silent_p.I197I	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	203						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		GTCTACTTCCGATTATTTCAA	0.443																																							uc003qax.2		NA																	0					0						c.(607-609)ATC>ATA		enoyl Coenzyme A hydratase domain containing 1							97.0	90.0	92.0					6																	127611329		1854	4088	5942	SO:0001819	synonymous_variant	55862						catalytic activity	g.chr6:127611329G>T	AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.609C>A	6.37:g.127611329G>T						ECHDC1_uc003qaz.3_Silent_p.I197I|ECHDC1_uc010key.2_Silent_p.I122I|ECHDC1_uc003qay.3_3'UTR|ECHDC1_uc010kez.2_3'UTR|ECHDC1_uc010kex.2_RNA	p.I203I	NM_001139510	NP_001132982	Q9NTX5	ECHD1_HUMAN		GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)	6	645	-			203					A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Silent	SNP	ENST00000531967.1	37	c.609C>A	CCDS47471.1	.	.	.	.	.	.	.	.	.	.	G	6.893	0.534251	0.13188	.	.	ENSG00000093144	ENST00000436638;ENST00000460558	.	.	.	5.65	-11.3	0.00108	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2929	0.21069	0.5885:0.1437:0.1962:0.0716	.	.	.	.	X	211;76	.	.	S	-	2	0	ECHDC1	127653022	0.000000	0.05858	0.006000	0.13384	0.821000	0.46438	-2.281000	0.01157	-2.164000	0.00782	-1.099000	0.02127	TCG		0.443	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042131.2			16	38	1	0	2.23348e-06	0.004007	3.12961e-06	16	38				
ABRACL	58527	broad.mit.edu	37	6	139363914	139363914	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:139363914C>T	ENST00000367660.3	+	3	320	c.120C>T	c.(118-120)gcC>gcT	p.A40A		NM_021243.2	NP_067066.1	Q9P1F3	ABRAL_HUMAN	ABRA C-terminal like	40																	ATAAATGTGCCAACCTCTTTG	0.403																																							uc003qil.2		NA																	0					0						c.(118-120)GCC>GCT		hypothetical protein LOC58527							256.0	235.0	242.0					6																	139363914		1902	4116	6018	SO:0001819	synonymous_variant	58527							g.chr6:139363914C>T	BC014953	CCDS43509.1	6q24.1	2012-03-05	2012-03-05	2012-03-05	ENSG00000146386	ENSG00000146386			21230	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 115"""	C6orf115		21082705	Standard	NM_021243		Approved	PRO2013, HSPC280, Costars	uc003qil.2	Q9P1F3	OTTHUMG00000015684	ENST00000367660.3:c.120C>T	6.37:g.139363914C>T						C6orf115_uc003qim.2_Silent_p.A40A	p.A40A	NM_021243	NP_067066	Q9P1F3	CF115_HUMAN		GBM - Glioblastoma multiforme(68;0.000278)|OV - Ovarian serous cystadenocarcinoma(155;0.000413)	3	320	+			40					Q5SZC8|Q9P0A1	Silent	SNP	ENST00000367660.3	37	c.120C>T	CCDS43509.1																																																																																				0.403	ABRACL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042445.1	NM_021243		18	61	0	0	0	0.008871	0	18	61				
THBS2	7058	broad.mit.edu	37	6	169648888	169648888	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr6:169648888A>G	ENST00000366787.3	-	4	482	c.233T>C	c.(232-234)aTg>aCg	p.M78T		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	78	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			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)		CTTCTGCCGCATGATCTTGGT	0.647																																					Esophageal Squamous(91;219 1934 18562 44706)	Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NA																	0				ovary(5)	5						c.(232-234)ATG>ACG		thrombospondin 2 precursor							141.0	119.0	127.0					6																	169648888		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648888A>G		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.233T>C	6.37:g.169648888A>G	ENSP00000355751:p.Met78Thr						p.M78T	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	481	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	78			TSP N-terminal.|Heparin-binding (Potential).		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.233T>C	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	A	4.490	0.090935	0.08632	.	.	ENSG00000186340	ENST00000366787;ENST00000435791	T	0.02015	4.5	4.55	2.17	0.27698	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.649894	0.13300	U	0.398319	T	0.00967	0.0032	L	0.47716	1.5	0.22112	N	0.999354	B	0.18863	0.031	B	0.18263	0.021	T	0.45293	-0.9271	10	0.72032	D	0.01	-24.6094	8.2509	0.31717	0.8322:0.0:0.1678:0.0	.	78	P35442	TSP2_HUMAN	T	78	ENSP00000355751:M78T	ENSP00000355751:M78T	M	-	2	0	THBS2	169390813	1.000000	0.71417	0.002000	0.10522	0.001000	0.01503	4.813000	0.62620	0.247000	0.21414	-0.376000	0.06991	ATG		0.647	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		16	21	0	0	0	0.003163	0	16	21				
SUN1	23353	broad.mit.edu	37	7	883007	883007	+	Missense_Mutation	SNP	G	G	T	rs374699982		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:883007G>T	ENST00000405266.1	+	5	532	c.508G>T	c.(508-510)Ggg>Tgg	p.G170W	SUN1_ENST00000452783.2_Intron|SUN1_ENST00000401592.1_Missense_Mutation_p.G170W|SUN1_ENST00000425407.2_Missense_Mutation_p.G120W|SUN1_ENST00000389574.3_Missense_Mutation_p.G120W|SUN1_ENST00000403868.1_Missense_Mutation_p.G170W|SUN1_ENST00000457378.2_Missense_Mutation_p.G191W|SUN1_ENST00000456758.2_Missense_Mutation_p.G228W			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	170					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCAGGGAAACGGGGATGTGGG	0.527																																							uc011jvp.1		NA																	0					0						c.(508-510)GGG>TGG		unc-84 homolog A isoform a							62.0	75.0	71.0					7																	883007		1980	4135	6115	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:883007G>T	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.508G>T	7.37:g.883007G>T	ENSP00000384116:p.Gly170Trp					SUN1_uc010ksa.1_Missense_Mutation_p.G191W|SUN1_uc003sje.1_Missense_Mutation_p.G170W|SUN1_uc003sjf.2_Missense_Mutation_p.G120W|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_5'UTR	p.G170W	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			6	587	+			170			Nuclear.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.508G>T		.	.	.	.	.	.	.	.	.	.	G	11.29	1.594551	0.28445	.	.	ENSG00000164828	ENST00000456758;ENST00000389574;ENST00000457378;ENST00000435699;ENST00000405266;ENST00000401592;ENST00000403868;ENST00000297445;ENST00000425407;ENST00000429178	T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;1.43	4.59	4.59	0.56863	.	0.420847	0.26983	N	0.021506	T	0.68568	0.3015	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.73180	-0.4064	10	0.72032	D	0.01	-29.8458	17.3675	0.87367	0.0:0.0:1.0:0.0	.	170;191;120;170	E9PF23;F8WD13;O94901-5;O94901-3	.;.;.;.	W	228;120;191;170;170;170;170;170;120;1	ENSP00000388743:G228W;ENSP00000374225:G120W;ENSP00000395952:G191W;ENSP00000388430:G170W;ENSP00000384116:G170W;ENSP00000384015:G170W;ENSP00000383947:G170W;ENSP00000392309:G120W;ENSP00000409909:G1W	ENSP00000297445:G170W	G	+	1	0	SUN1	849533	1.000000	0.71417	0.771000	0.31576	0.016000	0.09150	7.129000	0.77225	2.266000	0.75297	0.591000	0.81541	GGG		0.527	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		35	110	1	0	3.93418e-24	0.004289	7.80034e-24	35	110				
ACTB	60	broad.mit.edu	37	7	5567995	5567995	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:5567995T>C	ENST00000331789.5	-	4	910	c.719A>G	c.(718-720)tAc>tGc	p.Y240C	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'Flank	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	240					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		AGGCAGCTCGTAGCTCTTCTC	0.587																																							uc003sos.3		NA																	0					0						c.(718-720)TAC>TGC		beta actin							63.0	65.0	64.0					7																	5567995		2203	4300	6503	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5567995T>C	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.719A>G	7.37:g.5567995T>C	ENSP00000349960:p.Tyr240Cys					ACTB_uc003sor.3_Missense_Mutation_p.Y118C|ACTB_uc003sot.3_Missense_Mutation_p.Y240C|ACTB_uc003soq.3_Missense_Mutation_p.Y118C|ACTB_uc010ksy.2_Missense_Mutation_p.Y118C	p.Y240C	NM_001101	NP_001092	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	3	755	-		Ovarian(82;0.0606)	240					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.719A>G	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	T	16.12	3.033606	0.54896	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.97731	-4.51	5.55	5.55	0.83447	.	0.000000	0.53938	D	0.000056	D	0.99299	0.9755	H	0.99011	4.4	0.54753	D	0.999984	D	0.89917	1.0	D	0.97110	1.0	D	0.98514	1.0620	10	0.87932	D	0	.	14.5765	0.68252	0.0:0.0:0.0:1.0	.	240	P60709	ACTB_HUMAN	C	240;216;212;159	ENSP00000349960:Y240C	ENSP00000440549:Y159C	Y	-	2	0	ACTB	5534521	1.000000	0.71417	0.990000	0.47175	0.951000	0.60555	7.747000	0.85070	2.114000	0.64651	0.529000	0.55759	TAC		0.587	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		21	66	0	0	0	0.008871	0	21	66				
GLCCI1	113263	broad.mit.edu	37	7	8099853	8099853	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:8099853A>G	ENST00000223145.5	+	5	1498	c.941A>G	c.(940-942)aAt>aGt	p.N314S	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	314						cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		ATTAAAGAAAATAATGGGAAG	0.353																																							uc003srk.2		NA																	0					0						c.(940-942)AAT>AGT		glucocorticoid induced transcript 1							94.0	92.0	92.0					7																	8099853		2203	4300	6503	SO:0001583	missense	113263							g.chr7:8099853A>G	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.941A>G	7.37:g.8099853A>G	ENSP00000223145:p.Asn314Ser						p.N314S	NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	5	1500	+		Ovarian(82;0.0608)	314					A4D103|Q96FD0	Missense_Mutation	SNP	ENST00000223145.5	37	c.941A>G	CCDS34601.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.761407	0.31228	.	.	ENSG00000106415	ENST00000223145;ENST00000414914	.	.	.	4.88	3.73	0.42828	.	0.151092	0.64402	D	0.000018	T	0.38295	0.1035	L	0.27053	0.805	0.40140	D	0.976826	B	0.15473	0.013	B	0.12156	0.007	T	0.13764	-1.0497	9	0.16420	T	0.52	-0.001	7.2594	0.26195	0.7796:0.1448:0.0755:0.0	.	314	Q86VQ1	GLCI1_HUMAN	S	314;172	.	ENSP00000223145:N314S	N	+	2	0	GLCCI1	8066378	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.333000	0.43912	0.957000	0.37930	-0.589000	0.04120	AAT		0.353	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		13	46	0	0	0	0.003163	0	13	46				
EEPD1	80820	broad.mit.edu	37	7	36336765	36336765	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:36336765G>T	ENST00000242108.4	+	7	2197	c.1479G>T	c.(1477-1479)tgG>tgT	p.W493C	EEPD1_ENST00000534978.1_Missense_Mutation_p.W493C	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	493					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ACAACATCTGGATCAGTAAAA	0.478																																							uc003tfa.2		NA																	0					0						c.(1477-1479)TGG>TGT		endonuclease/exonuclease/phosphatase family							124.0	115.0	118.0					7																	36336765		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36336765G>T	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1479G>T	7.37:g.36336765G>T	ENSP00000242108:p.Trp493Cys						p.W493C	NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN			7	2119	+			493					Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.1479G>T	CCDS34619.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.652712|4.652712	0.88056|0.88056	.|.	.|.	ENSG00000122547|ENSG00000122547	ENST00000444777|ENST00000242108;ENST00000534978	.|D;D	.|0.95342	.|-3.68;-3.68	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Endonuclease/exonuclease/phosphatase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96867|0.96867	0.8977|0.8977	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.97048|0.97048	0.9762|0.9762	5|10	.|0.87932	.|D	.|0	-19.7441|-19.7441	19.7895|19.7895	0.96452|0.96452	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|493	.|Q7L9B9	.|EEPD1_HUMAN	Y|C	5|493	.|ENSP00000242108:W493C;ENSP00000442692:W493C	.|ENSP00000242108:W493C	D|W	+|+	1|3	0|0	EEPD1|EEPD1	36303290|36303290	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.603000|9.603000	0.98315|0.98315	2.763000|2.763000	0.94921|0.94921	0.561000|0.561000	0.74099|0.74099	GAT|TGG		0.478	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		7	28	1	0	5.18039e-06	0.00308	7.1425e-06	7	28				
GLI3	2737	broad.mit.edu	37	7	42065849	42065849	+	Silent	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:42065849A>C	ENST00000395925.3	-	8	1275	c.1191T>G	c.(1189-1191)ccT>ccG	p.P397P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	397					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCAGAACCGTAGGGATCCCTG	0.602									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																														uc011kbh.1		NA																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(1189-1191)CCT>CCG		GLI-Kruppel family member GLI3							91.0	82.0	85.0					7																	42065849		2203	4300	6503	SO:0001819	synonymous_variant	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42065849A>C		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.1191T>G	7.37:g.42065849A>C						GLI3_uc011kbg.1_Silent_p.P338P	p.P397P	NM_000168	NP_000159	P10071	GLI3_HUMAN			8	1282	-			397					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.1191T>G	CCDS5465.1																																																																																				0.602	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		4	18	0	0	0	0.009096	0	4	18				
OGDH	4967	broad.mit.edu	37	7	44737016	44737016	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:44737016G>C	ENST00000222673.5	+	16	2141	c.2099G>C	c.(2098-2100)tGc>tCc	p.C700S	OGDH_ENST00000439616.2_Missense_Mutation_p.C550S|OGDH_ENST00000444676.1_Missense_Mutation_p.C715S|OGDH_ENST00000447398.1_Missense_Mutation_p.C711S|OGDH_ENST00000449767.1_Missense_Mutation_p.C696S|OGDH_ENST00000543843.1_Missense_Mutation_p.C651S	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	700					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	AAGAGAACCTGCATCCCCATG	0.537																																							uc003tln.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2098-2100)TGC>TCC		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						100.0	98.0	99.0					7																	44737016		2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44737016G>C	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2099G>C	7.37:g.44737016G>C	ENSP00000222673:p.Cys700Ser					OGDH_uc011kbx.1_Missense_Mutation_p.C696S|OGDH_uc011kby.1_Missense_Mutation_p.C550S|OGDH_uc003tlp.2_Missense_Mutation_p.C711S|OGDH_uc011kbz.1_Missense_Mutation_p.C495S|OGDH_uc003tlo.1_Missense_Mutation_p.C533S	p.C700S	NM_002541	NP_002532	Q02218	ODO1_HUMAN			16	2208	+			700					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.2099G>C	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208935	0.58343	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.05319	3.47;3.46;3.46;3.47;3.46;3.47	5.28	5.28	0.74379	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.08313	0.0207	N	0.25890	0.77	0.58432	D	0.999995	B;P;B;B;B;B	0.35139	0.249;0.486;0.249;0.249;0.063;0.249	B;B;B;B;B;B	0.38755	0.216;0.281;0.281;0.281;0.145;0.281	T	0.24621	-1.0155	10	0.62326	D	0.03	-31.6774	18.6957	0.91600	0.0:0.0:1.0:0.0	.	495;550;696;711;602;700	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218	.;.;.;.;.;ODO1_HUMAN	S	550;696;711;715;700;651	ENSP00000398576:C550S;ENSP00000392878:C696S;ENSP00000388183:C711S;ENSP00000414662:C715S;ENSP00000222673:C700S;ENSP00000443821:C651S	ENSP00000222673:C700S	C	+	2	0	OGDH	44703541	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.660000	0.83776	2.733000	0.93635	0.650000	0.86243	TGC		0.537	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			12	38	0	0	0	0.010729	0	12	38				
ADCY1	107	broad.mit.edu	37	7	45719353	45719354	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:45719353_45719354GG>TT	ENST00000297323.7	+	11	1966_1967	c.1944_1945GG>TT	c.(1942-1947)ctGGtg>ctTTtg	p.V649L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	649					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCTGCTTCCTGGTGGCCTGTGT	0.559																																							uc003tne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1942-1947)CTGGTG>CTTTTG		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)																																			SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45719353_45719354GG>TT	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	Exception_encountered	7.37:g.45719353_45719354delinsTT	ENSP00000297323:p.Val649Leu						p.V649L	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			11	1962_1963	+			649			Helical; (Potential).		A4D2L8|Q75MI1	Missense_Mutation	DNP	ENST00000297323.7	37	c.1944_1945GG>TT	CCDS34631.1																																																																																				0.559	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		21	36	0	0	0	0.004672	0	21	36				
POM121L12	285877	broad.mit.edu	37	7	53104079	53104079	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:53104079A>T	ENST00000408890.4	+	1	731	c.715A>T	c.(715-717)Agc>Tgc	p.S239C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	239										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCTGAAGCCGAGCCTCGGCCC	0.647																																							uc003tpz.2		NA																	0					0						c.(715-717)AGC>TGC		POM121 membrane glycoprotein-like 12							44.0	52.0	50.0					7																	53104079		1970	4141	6111	SO:0001583	missense	285877							g.chr7:53104079A>T		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.715A>T	7.37:g.53104079A>T	ENSP00000386133:p.Ser239Cys						p.S239C	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	731	+			239					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.715A>T	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	A	13.00	2.107525	0.37145	.	.	ENSG00000221900	ENST00000408890	T	0.13420	2.59	2.03	2.03	0.26663	.	.	.	.	.	T	0.21921	0.0528	L	0.32530	0.975	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.06232	-1.0838	9	0.72032	D	0.01	.	6.0664	0.19866	1.0:0.0:0.0:0.0	.	239	Q8N7R1	P1L12_HUMAN	C	239	ENSP00000386133:S239C	ENSP00000386133:S239C	S	+	1	0	POM121L12	53071573	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	0.322000	0.19576	1.207000	0.43291	0.459000	0.35465	AGC		0.647	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		14	44	0	0	0	0.001855	0	14	44				
ZNF479	90827	broad.mit.edu	37	7	57188132	57188132	+	Missense_Mutation	SNP	A	A	C	rs551218130	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:57188132A>C	ENST00000331162.4	-	5	1260	c.990T>G	c.(988-990)tgT>tgG	p.C330W		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	330					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGGCTTTGCCACATTCCTCAC	0.448																																							uc010kzo.2		NA																	0				ovary(3)|skin(1)	4						c.(988-990)TGT>TGG		zinc finger protein 479							13.0	13.0	13.0					7																	57188132		1975	4141	6116	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188132A>C	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.990T>G	7.37:g.57188132A>C	ENSP00000333776:p.Cys330Trp						p.C330W	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1261	-			330			C2H2-type 6.			Missense_Mutation	SNP	ENST00000331162.4	37	c.990T>G	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	a	11.54	1.668384	0.29604	.	.	ENSG00000185177	ENST00000331162	D	0.85955	-2.05	1.01	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93743	0.8000	H	0.98089	4.145	0.47214	D	0.99935	D	0.89917	1.0	D	0.97110	1.0	D	0.90813	0.4703	9	0.87932	D	0	.	5.8565	0.18722	1.0:0.0:0.0:0.0	.	330	Q96JC4	ZN479_HUMAN	W	330	ENSP00000333776:C330W	ENSP00000333776:C330W	C	-	3	2	ZNF479	57192074	0.992000	0.36948	0.038000	0.18304	0.037000	0.13140	0.424000	0.21330	0.384000	0.24942	0.374000	0.22700	TGT		0.448	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		15	35	0	0	0	0.00499	0	15	35				
ZNF716	441234	broad.mit.edu	37	7	57528738	57528738	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:57528738G>T	ENST00000420713.1	+	4	683	c.571G>T	c.(571-573)Ggc>Tgc	p.G191C		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	191					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						TAAAAACGATGGCAAATCATT	0.338																																							uc011kdi.1		NA																	0				ovary(2)	2						c.(571-573)GGC>TGC		zinc finger protein 716							78.0	67.0	70.0					7																	57528738		692	1591	2283	SO:0001583	missense	441234							g.chr7:57528738G>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.571G>T	7.37:g.57528738G>T	ENSP00000394248:p.Gly191Cys						p.G191C	NM_001159279	NP_001152751					4	683	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.571G>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.263652	0.39995	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.22336	1.96	0.195	0.195	0.15151	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42131	0.1189	M	0.85859	2.78	0.36249	D	0.853791	D	0.89917	1.0	D	0.68039	0.955	T	0.51395	-0.8711	9	0.87932	D	0	.	6.2336	0.20750	3.0E-4:0.0:0.9997:0.0	.	179	A6NP11	ZN716_HUMAN	C	191;179	ENSP00000394248:G191C	ENSP00000387687:G179C	G	+	1	0	ZNF716	57532680	0.999000	0.42202	0.119000	0.21687	0.119000	0.20118	2.057000	0.41365	0.300000	0.22699	0.306000	0.20318	GGC		0.338	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		3	14	1	0	0.004672	0.004672	0.00515945	3	14				
ZNF733P	643955	broad.mit.edu	37	7	62758685	62758685	+	RNA	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:62758685C>A	ENST00000331425.6	-	0	192					NR_003952.1				zinc finger protein 733, pseudogene																		CATCACATGTCTATATAAATT	0.378																																							uc011kdj.1		NA																	0					0						c.(124-126)AGA>ATA		Homo sapiens cDNA clone IMAGE:30377995, containing frame-shift errors.																																						643955							g.chr7:62758685C>A			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62758685C>A							p.R42I	NR_003952						2	193	-									Missense_Mutation	SNP	ENST00000331425.6	37	c.125G>T																																																																																					0.378	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			31	69	1	0	9.65021e-13	0.010818	1.729e-12	31	69				
ZNF117	51351	broad.mit.edu	37	7	64438556	64438556	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:64438556T>A	ENST00000282869.6	-	4	2677	c.1393A>T	c.(1393-1395)Ata>Tta	p.I465L		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	465					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GTATGAATTATCTTATGTGTA	0.353																																							uc003ttr.2		NA																	0				skin(1)	1						c.(1393-1395)ATA>TTA		zinc finger protein 117							68.0	74.0	72.0					7																	64438556		2171	4277	6448	SO:0001583	missense	51351					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64438556T>A	M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.1393A>T	7.37:g.64438556T>A	ENSP00000282869:p.Ile465Leu						p.I465L	NM_015852	NP_056936	Q03924	ZN117_HUMAN			4	2678	-		Lung NSC(55;0.0295)|all_lung(88;0.0691)	465			C2H2-type 13.		Q02313|Q7Z7Q7	Missense_Mutation	SNP	ENST00000282869.6	37	c.1393A>T	CCDS43593.1	.	.	.	.	.	.	.	.	.	.	.	5.751	0.322990	0.10900	.	.	ENSG00000152926	ENST00000282869	T	0.18016	2.24	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06600	0.0169	N	0.01800	-0.715	0.09310	N	1	B	0.22541	0.071	B	0.27076	0.076	T	0.35847	-0.9772	9	0.51188	T	0.08	.	5.9831	0.19419	0.0:0.0:0.0:1.0	.	465	Q03924	ZN117_HUMAN	L	465	ENSP00000282869:I465L	ENSP00000282869:I465L	I	-	1	0	ZNF117	64075991	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.562000	0.05950	0.436000	0.26393	0.260000	0.18958	ATA		0.353	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344863.3	NM_024498		6	31	0	0	0	0.001168	0	6	31				
WBSCR17	64409	broad.mit.edu	37	7	70885970	70885970	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:70885970G>T	ENST00000333538.5	+	5	1475	c.841G>T	c.(841-843)Gac>Tac	p.D281Y	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	281					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CATCAAACAGGACAACTTTGA	0.557																																							uc003tvy.2		NA																	0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(841-843)GAC>TAC		UDP-GalNAc:polypeptide							181.0	166.0	171.0					7																	70885970		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70885970G>T	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.841G>T	7.37:g.70885970G>T	ENSP00000329654:p.Asp281Tyr					WBSCR17_uc003tvz.2_5'UTR	p.D281Y	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			5	841	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	281			Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.841G>T	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802650	0.90623	.	.	ENSG00000185274	ENST00000333538	T	0.61859	0.07	5.45	5.45	0.79879	Glycosyl transferase, family 2 (1);	0.047258	0.85682	D	0.000000	T	0.81029	0.4738	M	0.90595	3.13	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	D	0.84972	0.0883	10	0.87932	D	0	.	18.2861	0.90114	0.0:0.0:1.0:0.0	.	281	Q6IS24	GLTL3_HUMAN	Y	281	ENSP00000329654:D281Y	ENSP00000329654:D281Y	D	+	1	0	WBSCR17	70523906	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.559000	0.86315	0.650000	0.86243	GAC		0.557	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		43	97	1	0	3.83281e-39	0.010771	7.7558e-39	43	97				
TYW1B	441250	broad.mit.edu	37	7	72209576	72209576	+	RNA	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:72209576C>G	ENST00000435769.2	-	0	1089				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										CTCGGAGCATCGACTATGACA	0.413																																							uc011kej.1		NA																	0					0						c.(967-969)GAT>CAT		tRNA-yW synthesizing protein 1 homolog B isoform							233.0	179.0	195.0					7																	72209576		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72209576C>G	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72209576C>G						TYW1B_uc011keh.1_Missense_Mutation_p.D161H|TYW1B_uc011kei.1_5'UTR|TYW1B_uc011kek.1_RNA	p.D323H	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN			8	1126	-			323					A6NG09|B4DFY2|Q3KQX2	Missense_Mutation	SNP	ENST00000435769.2	37	c.967G>C																																																																																					0.413	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		3	38	0	0	0	0.001168	0	3	38				
PCLO	27445	broad.mit.edu	37	7	82581839	82581839	+	Silent	SNP	T	T	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:82581839T>G	ENST00000333891.9	-	5	8767	c.8430A>C	c.(8428-8430)acA>acC	p.T2810T	PCLO_ENST00000423517.2_Silent_p.T2810T|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						CTAGGCTTTCTGTGCCTGTAG	0.473																																							uc003uhx.2		NA																	0				ovary(7)	7						c.(8428-8430)ACA>ACC		piccolo isoform 1							201.0	176.0	184.0					7																	82581839		2058	4204	6262	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82581839T>G	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.8430A>C	7.37:g.82581839T>G						PCLO_uc003uhv.2_Silent_p.T2810T|PCLO_uc010lec.2_5'Flank	p.T2810T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	8719	-			2741						Silent	SNP	ENST00000333891.9	37	c.8430A>C	CCDS47630.1																																																																																				0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	45	0	0	0	0.001168	0	6	45				
SEMA3D	223117	broad.mit.edu	37	7	84702316	84702316	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:84702316G>C	ENST00000284136.6	-	4	500	c.457C>G	c.(457-459)Cca>Gca	p.P153A	SEMA3D_ENST00000444867.1_Missense_Mutation_p.P153A	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	153	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCACATATTGGATGAAATGCT	0.328																																					Ovarian(63;442 1191 17318 29975 31528)	Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2		NA																	0				ovary(3)|large_intestine(2)	5						c.(457-459)CCA>GCA		semaphorin 3D precursor							110.0	101.0	104.0					7																	84702316		2203	4300	6503	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84702316G>C	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.457C>G	7.37:g.84702316G>C	ENSP00000284136:p.Pro153Ala					SEMA3D_uc010led.2_Missense_Mutation_p.P153A|SEMA3D_uc010lee.1_Missense_Mutation_p.P153A	p.P153A	NM_152754	NP_689967	O95025	SEM3D_HUMAN			4	497	-			153			Sema.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.457C>G	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271666	0.80469	.	.	ENSG00000153993	ENST00000284136;ENST00000444867	T;T	0.54279	0.58;0.58	5.07	5.07	0.68467	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.047691	0.85682	D	0.000000	T	0.81555	0.4847	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	0.87710	0.2566	10	0.87932	D	0	.	18.448	0.90693	0.0:0.0:1.0:0.0	.	153;153	C9JYT6;O95025	.;SEM3D_HUMAN	A	153	ENSP00000284136:P153A;ENSP00000401366:P153A	ENSP00000284136:P153A	P	-	1	0	SEMA3D	84540252	1.000000	0.71417	0.983000	0.44433	0.883000	0.51084	8.761000	0.91691	2.331000	0.79229	0.557000	0.71058	CCA		0.328	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		7	33	0	0	0	0.001984	0	7	33				
CROT	54677	broad.mit.edu	37	7	86990876	86990876	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:86990876G>T	ENST00000331536.3	+	5	596	c.411G>T	c.(409-411)caG>caT	p.Q137H	CROT_ENST00000419147.2_Missense_Mutation_p.Q165H|CROT_ENST00000442291.1_Missense_Mutation_p.Q137H	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	137					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)			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)	ACTACTGGCAGCTATTAAGAA	0.408																																							uc003uit.2		NA																	0				ovary(2)|lung(1)	3						c.(409-411)CAG>CAT		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						74.0	73.0	73.0					7																	86990876		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.chr7:86990876G>T		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.411G>T	7.37:g.86990876G>T	ENSP00000331981:p.Gln137His					CROT_uc003uiu.2_Missense_Mutation_p.Q165H	p.Q137H	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			5	656	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		137					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.411G>T	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.910544	0.52439	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.89681	-2.55;-2.55;-2.55	5.86	-0.0322	0.13906	.	0.199866	0.52532	D	0.000078	D	0.89403	0.6705	L	0.51853	1.615	0.32557	N	0.531552	D;D	0.59767	0.986;0.981	D;P	0.66602	0.945;0.846	D	0.86833	0.2012	10	0.42905	T	0.14	-15.3116	6.9004	0.24279	0.4371:0.0:0.4546:0.1083	.	165;137	E7EQF2;Q9UKG9	.;OCTC_HUMAN	H	165;137;137	ENSP00000413575:Q165H;ENSP00000331981:Q137H;ENSP00000411983:Q137H	ENSP00000331981:Q137H	Q	+	3	2	CROT	86828812	0.127000	0.22367	0.843000	0.33291	0.979000	0.70002	-0.637000	0.05459	-0.076000	0.12775	-0.137000	0.14449	CAG		0.408	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		4	31	1	0	0.000602214	0.000602	0.000707037	4	31				
ZNF804B	219578	broad.mit.edu	37	7	88966181	88966181	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:88966181G>T	ENST00000333190.4	+	4	4494	c.3885G>T	c.(3883-3885)ttG>ttT	p.L1295F		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1295							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTCCTACATTGTTTGGTCCTC	0.443										HNSCC(36;0.09)																													uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3883-3885)TTG>TTT		zinc finger protein 804B							203.0	189.0	194.0					7																	88966181		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88966181G>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3885G>T	7.37:g.88966181G>T	ENSP00000329638:p.Leu1295Phe	HNSCC(36;0.09)					p.L1295F	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4423	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1295					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.3885G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265258	0.40095	.	.	ENSG00000182348	ENST00000333190	T	0.11821	2.74	5.41	3.56	0.40772	.	0.126543	0.36002	N	0.002848	T	0.13543	0.0328	M	0.75264	2.295	0.34070	D	0.65829	P	0.43885	0.82	B	0.37047	0.24	T	0.28586	-1.0039	10	0.87932	D	0	-2.3995	3.1492	0.06481	0.1589:0.1401:0.5566:0.1444	.	1295	A4D1E1	Z804B_HUMAN	F	1295	ENSP00000329638:L1295F	ENSP00000329638:L1295F	L	+	3	2	ZNF804B	88804117	1.000000	0.71417	0.973000	0.42090	0.506000	0.33950	0.989000	0.29629	0.795000	0.33922	-0.140000	0.14226	TTG		0.443	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		17	162	1	0	0.000566183	0.00499	0.000673934	17	162				
CALCR	799	broad.mit.edu	37	7	93065450	93065450	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:93065450C>A	ENST00000394441.1	-	11	1278	c.963G>T	c.(961-963)cgG>cgT	p.R321R	CALCR_ENST00000421592.1_Silent_p.R337R|CALCR_ENST00000360249.4_Silent_p.R337R|CALCR_ENST00000359558.2_Silent_p.R355R|CALCR_ENST00000426151.1_Silent_p.R321R	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	355					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	TCACAAGCACCCGGACAATGT	0.453																																							uc003umv.1		NA																	0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(1063-1065)CGG>CGT		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						86.0	77.0	80.0					7																	93065450		2203	4300	6503	SO:0001819	synonymous_variant	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93065450C>A	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.963G>T	7.37:g.93065450C>A						CALCR_uc011kia.1_Silent_p.R135R|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Silent_p.R321R|CALCR_uc003umw.2_Silent_p.R321R	p.R355R	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		13	1326	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		337			Cytoplasmic (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Silent	SNP	ENST00000394441.1	37	c.1065G>T	CCDS5631.1																																																																																				0.453	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		14	37	1	0	0.00316338	0.003163	0.00356204	14	37				
NPTX2	4885	broad.mit.edu	37	7	98256507	98256507	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:98256507G>T	ENST00000265634.3	+	4	1084	c.919G>T	c.(919-921)Ggc>Tgc	p.G307C		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	307	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGTCAGTGACGGCAAGTGGCA	0.637																																							uc003upl.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(919-921)GGC>TGC		neuronal pentraxin II precursor							85.0	71.0	76.0					7																	98256507		2203	4300	6503	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98256507G>T		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.919G>T	7.37:g.98256507G>T	ENSP00000265634:p.Gly307Cys						p.G307C	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1096	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		307			Pentaxin.		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.919G>T	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110681	0.94292	.	.	ENSG00000106236	ENST00000265634	T	0.66280	-0.2	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.86711	0.5998	H	0.96777	3.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90903	0.4770	10	0.87932	D	0	-12.8195	18.4772	0.90797	0.0:0.0:1.0:0.0	.	307	P47972	NPTX2_HUMAN	C	307	ENSP00000265634:G307C	ENSP00000265634:G307C	G	+	1	0	NPTX2	98094443	1.000000	0.71417	0.983000	0.44433	0.973000	0.67179	9.813000	0.99286	2.677000	0.91161	0.650000	0.86243	GGC		0.637	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		13	25	1	0	7.93312e-07	0.00245	1.13236e-06	13	25				
NPTX2	4885	broad.mit.edu	37	7	98256612	98256612	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:98256612C>A	ENST00000265634.3	+	4	1189	c.1024C>A	c.(1024-1026)Cac>Aac	p.H342N		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	342	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GGCCCCCTGGCACCCCATCAA	0.657																																							uc003upl.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(1024-1026)CAC>AAC		neuronal pentraxin II precursor							70.0	58.0	62.0					7																	98256612		2203	4300	6503	SO:0001583	missense	4885				synaptic transmission	extracellular region	metal ion binding|sugar binding	g.chr7:98256612C>A		CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.1024C>A	7.37:g.98256612C>A	ENSP00000265634:p.His342Asn						p.H342N	NM_002523	NP_002514	P47972	NPTX2_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	1201	+	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		342			Pentaxin.		A4D267|Q86XV7|Q96G70	Missense_Mutation	SNP	ENST00000265634.3	37	c.1024C>A	CCDS5657.1	.	.	.	.	.	.	.	.	.	.	C	33	5.245538	0.95272	.	.	ENSG00000106236	ENST00000265634	T	0.06068	3.35	5.39	5.39	0.77823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.35451	0.0932	M	0.92077	3.27	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.40232	-0.9574	10	0.59425	D	0.04	-13.2297	18.4968	0.90867	0.0:1.0:0.0:0.0	.	342	P47972	NPTX2_HUMAN	N	342	ENSP00000265634:H342N	ENSP00000265634:H342N	H	+	1	0	NPTX2	98094548	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.771000	0.85420	2.682000	0.91365	0.655000	0.94253	CAC		0.657	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334982.1	NM_002523		6	29	1	0	5.9392e-07	0.001168	8.56639e-07	6	29				
GAL3ST4	79690	broad.mit.edu	37	7	99757655	99757655	+	Missense_Mutation	SNP	G	G	T	rs150667953	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:99757655G>T	ENST00000360039.4	-	4	1749	c.1357C>A	c.(1357-1359)Cgc>Agc	p.R453S	C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R391S|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R453S|GAL3ST4_ENST00000423751.1_3'UTR|C7orf43_ENST00000316937.3_5'Flank|GAL3ST4_ENST00000411994.1_3'UTR|C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000419841.1_5'Flank	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	453					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTAGCTAGGCGCTCACATTCC	0.572																																							uc003utt.2		NA																	0				ovary(3)	3						c.(1357-1359)CGC>AGC		galactose-3-O-sulfotransferase 4							105.0	86.0	92.0					7																	99757655		2203	4300	6503	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99757655G>T	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.1357C>A	7.37:g.99757655G>T	ENSP00000353142:p.Arg453Ser					C7orf43_uc010lgp.2_5'Flank|C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.R453S|GAL3ST4_uc010lgq.2_Missense_Mutation_p.R391S	p.R453S	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN			3	2374	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		453			Lumenal (Potential).		A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.1357C>A	CCDS5688.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361522	0.82353	.	.	ENSG00000197093	ENST00000413800;ENST00000360039;ENST00000426974	T;T;T	0.18502	2.21;2.21;2.21	5.92	5.92	0.95590	.	0.074865	0.52532	U	0.000080	T	0.40498	0.1119	M	0.70275	2.135	0.47183	D	0.999341	D;D	0.71674	0.998;0.996	D;D	0.67382	0.951;0.94	T	0.02081	-1.1217	10	0.26408	T	0.33	-10.3595	17.8145	0.88627	0.0:0.0:1.0:0.0	.	391;453	B4DWL8;Q96RP7	.;G3ST4_HUMAN	S	453;453;391	ENSP00000400451:R453S;ENSP00000353142:R453S;ENSP00000398304:R391S	ENSP00000353142:R453S	R	-	1	0	GAL3ST4	99595591	0.994000	0.37717	1.000000	0.80357	0.803000	0.45373	4.506000	0.60428	2.813000	0.96785	0.561000	0.74099	CGC		0.572	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		22	42	1	0	1.64293e-13	0.00333	3.00622e-13	22	42				
PILRA	29992	broad.mit.edu	37	7	99997503	99997503	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:99997503G>A	ENST00000198536.2	+	7	1097	c.885G>A	c.(883-885)gaG>gaA	p.E295E	PILRA_ENST00000394000.2_3'UTR|PILRA_ENST00000453419.1_Missense_Mutation_p.D210N|PILRA_ENST00000350573.2_Silent_p.E222E	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	295					signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCAGAACGAGACCCTGTACT	0.587																																							uc003uuo.1		NA																	0		p.E295K(1)		skin(1)	1						c.(883-885)GAG>GAA		paired immunoglobulin-like type 2 receptor alpha							135.0	126.0	129.0					7																	99997503		2203	4300	6503	SO:0001819	synonymous_variant	29992				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr7:99997503G>A	AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"""Immunoglobulin superfamily / V-set domain containing"""	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.885G>A	7.37:g.99997503G>A						PILRA_uc011kjo.1_Missense_Mutation_p.D210N|PILRA_uc003uup.1_Silent_p.E222E|PILRA_uc003uuq.1_3'UTR	p.E295E	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN			7	1097	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		295			Cytoplasmic (Potential).		Q8NHI1	Silent	SNP	ENST00000198536.2	37	c.885G>A	CCDS5691.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644217	0.29246	.	.	ENSG00000085514	ENST00000453419	T	0.18338	2.22	5.24	3.42	0.39159	.	.	.	.	.	T	0.19525	0.0469	.	.	.	0.58432	D	0.99999	P	0.47841	0.901	P	0.47134	0.539	T	0.01440	-1.1354	7	.	.	.	.	8.4446	0.32834	0.1837:0.0:0.8163:0.0	.	210	C9JJ79	.	N	210	ENSP00000390026:D210N	.	D	+	1	0	PILRA	99835439	0.950000	0.32346	0.232000	0.24009	0.007000	0.05969	0.292000	0.19011	0.864000	0.35578	-0.145000	0.13849	GAC		0.587	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	NM_013439		20	75	0	0	0	0.010504	0	20	75				
ZAN	7455	broad.mit.edu	37	7	100348468	100348468	+	RNA	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:100348468C>A	ENST00000348028.3	+	0	1635				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGCGCCCTTACTGGCAGAACA	0.627																																							uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(1468-1470)TAC>TAA		zonadhesin isoform 3							33.0	35.0	34.0					7																	100348468		1981	4138	6119			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100348468C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100348468C>A						ZAN_uc003uwk.2_Nonsense_Mutation_p.Y490*|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.Y490*	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		12	1635	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		490			MAM 3.|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Nonsense_Mutation	SNP	ENST00000348028.3	37	c.1470C>A		.	.	.	.	.	.	.	.	.	.	C	28.8	4.951946	0.92660	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	.	.	.	4.52	1.53	0.23141	.	2.103930	0.02457	N	0.086197	.	.	.	.	.	.	0.54753	D	0.999981	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5228	0.07748	0.1723:0.5642:0.1671:0.0964	.	.	.	.	X	490	.	ENSP00000423579:Y490X	Y	+	3	2	ZAN	100186404	0.014000	0.17966	0.251000	0.24312	0.245000	0.25701	-0.056000	0.11787	0.174000	0.19809	-0.143000	0.13931	TAC		0.627	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	19	1	0	0.000602214	0.000602	0.000707037	3	19				
MUC17	140453	broad.mit.edu	37	7	100678117	100678117	+	Silent	SNP	A	A	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:100678117A>T	ENST00000306151.4	+	3	3484	c.3420A>T	c.(3418-3420)tcA>tcT	p.S1140S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1140	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGCCAGTTCATCTCCTACAA	0.542																																							uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(3418-3420)TCA>TCT		mucin 17 precursor							379.0	336.0	351.0					7																	100678117		2203	4298	6501	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678117A>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3420A>T	7.37:g.100678117A>T						MUC17_uc010lho.1_RNA	p.S1140S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3473	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1140			Extracellular (Potential).|59 X approximate tandem repeats.|17.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.3420A>T	CCDS34711.1																																																																																				0.542	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		152	575	0	0	0	0.01441	0	152	575				
SLC26A3	1811	broad.mit.edu	37	7	107423710	107423710	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:107423710C>A	ENST00000340010.5	-	9	1243	c.1059G>T	c.(1057-1059)gtG>gtT	p.V353V	SLC26A3_ENST00000422236.2_Silent_p.V318V	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	353					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CTGAAAAGGCCACTGCAAATG	0.443																																							uc003ver.2		NA																	0				ovary(3)|skin(1)	4						c.(1057-1059)GTG>GTT		solute carrier family 26, member 3							101.0	96.0	98.0					7																	107423710		2203	4300	6503	SO:0001819	synonymous_variant	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107423710C>A	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1059G>T	7.37:g.107423710C>A						SLC26A3_uc003ves.2_Silent_p.V318V	p.V353V	NM_000111	NP_000102	P40879	S26A3_HUMAN			9	1270	-			353			Helical; (Potential).			Silent	SNP	ENST00000340010.5	37	c.1059G>T	CCDS5748.1																																																																																				0.443	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		18	28	1	0	1.99824e-07	0.00499	2.9693e-07	18	28				
NRCAM	4897	broad.mit.edu	37	7	107816895	107816895	+	Missense_Mutation	SNP	G	G	T	rs147348539		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:107816895G>T	ENST00000425651.2	-	24	3130	c.3131C>A	c.(3130-3132)gCa>gAa	p.A1044E	NRCAM_ENST00000413765.2_Missense_Mutation_p.A1025E|NRCAM_ENST00000379028.3_Missense_Mutation_p.A1044E|NRCAM_ENST00000379024.4_Missense_Mutation_p.A1025E|NRCAM_ENST00000351718.4_Missense_Mutation_p.A1028E|NRCAM_ENST00000379022.4_Missense_Mutation_p.A1044E	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1044	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGTTGTTACTGCTTCCTCTGT	0.308																																							uc003vfb.2		NA																	0				ovary(3)|breast(2)	5						c.(3130-3132)GCA>GAA		neuronal cell adhesion molecule isoform A							130.0	128.0	128.0					7																	107816895		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107816895G>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3131C>A	7.37:g.107816895G>T	ENSP00000401244:p.Ala1044Glu					NRCAM_uc003vfc.2_Missense_Mutation_p.A1028E|NRCAM_uc011kmk.1_Missense_Mutation_p.A1039E|NRCAM_uc003vfd.2_Missense_Mutation_p.A1020E|NRCAM_uc003vfe.2_Missense_Mutation_p.A1020E|NRCAM_uc011kmj.1_5'UTR	p.A1044E	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			27	3602	-			1044			Fibronectin type-III 4.|Extracellular (Potential).		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.3131C>A	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098362	0.76870	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65	5.62	4.72	0.59763	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.046604	0.85682	D	0.000000	T	0.64394	0.2594	M	0.70595	2.14	0.80722	D	1	P;P;P;P;B	0.49696	0.875;0.927;0.593;0.541;0.071	D;P;B;B;B	0.72625	0.978;0.806;0.375;0.339;0.014	T	0.63070	-0.6719	10	0.07325	T	0.83	.	16.3823	0.83472	0.0:0.1319:0.8681:0.0	.	1044;1025;1025;1028;1044	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	E	1044;1044;1025;1044;1028;1025;1044;1044	ENSP00000368314:A1044E;ENSP00000407858:A1025E;ENSP00000325269:A1028E;ENSP00000368310:A1025E;ENSP00000401244:A1044E;ENSP00000368308:A1044E	ENSP00000325269:A1028E	A	-	2	0	NRCAM	107604131	1.000000	0.71417	0.987000	0.45799	0.938000	0.57974	4.677000	0.61634	1.332000	0.45431	0.650000	0.86243	GCA		0.308	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		14	58	1	0	1.15088e-07	0.004007	1.72506e-07	14	58				
LRRN3	54674	broad.mit.edu	37	7	110764717	110764717	+	Missense_Mutation	SNP	T	T	C	rs371192203		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:110764717T>C	ENST00000422987.3	+	2	2720	c.1889T>C	c.(1888-1890)aTg>aCg	p.M630T	IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.M630T|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.M630T	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	630					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACAACACTTATGGCCTGTCTT	0.413																																							uc003vft.3		NA																	0				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(1888-1890)ATG>ACG		leucine rich repeat neuronal 3 precursor		T	THR/MET,THR/MET,THR/MET,	1,4405	2.1+/-5.4	0,1,2202	76.0	76.0	76.0		1889,1889,1889,	5.6	0.9	7		76	0,8600		0,0,4300	no	missense,missense,missense,intron	LRRN3,IMMP2L	NM_001099658.1,NM_001099660.1,NM_018334.4,NM_032549.3	81,81,81,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign,benign,benign,	630/709,630/709,630/709,	110764717	1,13005	2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110764717T>C	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1889T>C	7.37:g.110764717T>C	ENSP00000412417:p.Met630Thr					IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.M630T|LRRN3_uc003vfs.3_Missense_Mutation_p.M630T	p.M630T	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2935	+			630			Helical; (Potential).		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.1889T>C	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	T	13.55	2.271594	0.40194	2.27E-4	0.0	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.40225	1.04;1.04;1.04	5.63	5.63	0.86233	.	0.597033	0.16882	N	0.195668	T	0.34424	0.0897	L	0.36672	1.1	0.34780	D	0.73459	B	0.10296	0.003	B	0.09377	0.004	T	0.37384	-0.9708	10	0.13470	T	0.59	.	16.1485	0.81594	0.0:0.0:0.0:1.0	.	630	Q9H3W5	LRRN3_HUMAN	T	630	ENSP00000312001:M630T;ENSP00000397312:M630T;ENSP00000412417:M630T	ENSP00000312001:M630T	M	+	2	0	LRRN3	110551953	1.000000	0.71417	0.922000	0.36590	0.905000	0.53344	7.655000	0.83696	2.281000	0.76405	0.533000	0.62120	ATG		0.413	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		14	50	0	0	0	0.00245	0	14	50				
IFRD1	3475	broad.mit.edu	37	7	112112292	112112292	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:112112292G>T	ENST00000403825.3	+	10	1321	c.1060G>T	c.(1060-1062)Gaa>Taa	p.E354*	IFRD1_ENST00000535603.1_Nonsense_Mutation_p.E304*|IFRD1_ENST00000005558.4_Nonsense_Mutation_p.E354*	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	354					adult somatic muscle development (GO:0007527)|multicellular organismal development (GO:0007275)|myoblast fate determination (GO:0007518)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TTTTCCAACAGAAACCATTAA	0.393																																							uc003vgh.2		NA																	0				kidney(1)|central_nervous_system(1)	2						c.(1060-1062)GAA>TAA		interferon-related developmental regulator 1							123.0	122.0	122.0					7																	112112292		2203	4300	6503	SO:0001587	stop_gained	3475				multicellular organismal development|myoblast cell fate determination		binding	g.chr7:112112292G>T	Y10313	CCDS34736.1, CCDS56504.1	7q31.1	2005-10-17			ENSG00000006652	ENSG00000006652			5456	protein-coding gene	gene with protein product		603502				9722946	Standard	NM_001550		Approved	PC4, TIS7	uc003vgh.3	O00458	OTTHUMG00000155124	ENST00000403825.3:c.1060G>T	7.37:g.112112292G>T	ENSP00000384477:p.Glu354*					IFRD1_uc011kmn.1_Nonsense_Mutation_p.E304*|IFRD1_uc003vgj.2_Nonsense_Mutation_p.E354*|IFRD1_uc011kmo.1_RNA|IFRD1_uc011kmp.1_Nonsense_Mutation_p.E304*|IFRD1_uc003vgk.2_Nonsense_Mutation_p.E71*	p.E354*	NM_001007245	NP_001007246	O00458	IFRD1_HUMAN			11	1503	+			354					B7Z5G1|O75234|Q5U013|Q9BVE4	Nonsense_Mutation	SNP	ENST00000403825.3	37	c.1060G>T	CCDS34736.1	.	.	.	.	.	.	.	.	.	.	G	37	6.573345	0.97676	.	.	ENSG00000006652	ENST00000005558;ENST00000403825;ENST00000536259;ENST00000535603;ENST00000421296;ENST00000462155	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-26.6223	20.3422	0.98769	0.0:0.0:1.0:0.0	.	.	.	.	X	354;354;89;304;89;17	.	ENSP00000005558:E354X	E	+	1	0	IFRD1	111899528	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.487000	0.97945	2.810000	0.96702	0.655000	0.94253	GAA		0.393	IFRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338700.1	NM_001550		18	41	1	0	0.00074312	0.006122	0.000865087	18	41				
C7orf60	154743	broad.mit.edu	37	7	112579683	112579683	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:112579683C>G	ENST00000297145.4	-	1	288	c.123G>C	c.(121-123)aaG>aaC	p.K41N	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	41							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GGTGGACGCTCTTCACCACAC	0.647																																							uc003vgo.1		NA																	0				ovary(2)|skin(1)	3						c.(121-123)AAG>AAC		hypothetical protein LOC154743							35.0	40.0	38.0					7																	112579683		1970	4137	6107	SO:0001583	missense	154743							g.chr7:112579683C>G		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.123G>C	7.37:g.112579683C>G	ENSP00000297145:p.Lys41Asn					C7orf60_uc011kms.1_Missense_Mutation_p.K41N	p.K41N	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN			1	250	-			41					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.123G>C	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883612	0.72410	.	.	ENSG00000164603	ENST00000297145	.	.	.	5.04	2.29	0.28610	.	0.000000	0.85682	D	0.000000	T	0.57140	0.2033	M	0.81497	2.545	0.46279	D	0.998964	P	0.45986	0.87	B	0.41571	0.36	T	0.59295	-0.7481	9	0.72032	D	0.01	-12.2845	8.7108	0.34382	0.0:0.7534:0.0:0.2466	.	41	Q1RMZ1	CG060_HUMAN	N	41	.	ENSP00000297145:K41N	K	-	3	2	C7orf60	112366919	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	0.899000	0.28417	0.304000	0.22809	-0.703000	0.03666	AAG		0.647	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556		4	43	0	0	0	0.009096	0	4	43				
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs576887296|rs398124272	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				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.Q195Q(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						agcagcagcaacaacaacaac	0.502																																							uc003vhb.2		NA																	1	Substitution - coding silent(1)		kidney(1)	ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(508-510)CAA>CAG		forkhead box P2 isoform I							37.0	35.0	35.0					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	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.chr7:114269973A>G	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.510A>G	7.37:g.114269973A>G						FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Silent_p.Q195Q|FOXP2_uc003vha.2_Silent_p.Q78Q|FOXP2_uc011kmu.1_Silent_p.Q187Q|FOXP2_uc011kmv.1_Silent_p.Q170Q|FOXP2_uc010ljz.1_Silent_p.Q78Q|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Silent_p.Q170Q|FOXP2_uc003vgx.2_Silent_p.Q170Q|FOXP2_uc003vhd.2_Silent_p.Q170Q|FOXP2_uc003vhc.2_Silent_p.Q195Q	p.Q170Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN			5	884	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.510A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	40	0	0	0	0.004672	0	3	40				
SPAM1	6677	broad.mit.edu	37	7	123594058	123594058	+	Missense_Mutation	SNP	T	T	C	rs201663309		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:123594058T>C	ENST00000439500.1	+	4	1047	c.434T>C	c.(433-435)aTt>aCt	p.I145T	SPAM1_ENST00000340011.5_Missense_Mutation_p.I145T|SPAM1_ENST00000402183.2_Missense_Mutation_p.I145T|SPAM1_ENST00000460182.1_Missense_Mutation_p.I145T|SPAM1_ENST00000223028.7_Missense_Mutation_p.I145T	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	145					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATGGCTGTTATTGACTGGGAA	0.393																																							uc003vld.2		NA																	0				ovary(3)|kidney(1)	4						c.(433-435)ATT>ACT		sperm adhesion molecule 1 isoform 2	Hyaluronidase(DB00070)	T	THR/ILE,THR/ILE,THR/ILE,THR/ILE,THR/ILE	0,4406		0,0,2203	84.0	85.0	85.0		434,434,434,434,434	6.0	1.0	7		85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	SPAM1	NM_001174044.1,NM_001174045.1,NM_001174046.1,NM_003117.4,NM_153189.2	89,89,89,89,89	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	145/510,145/510,145/510,145/512,145/510	123594058	1,13005	2203	4300	6503	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123594058T>C	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.434T>C	7.37:g.123594058T>C	ENSP00000402123:p.Ile145Thr					SPAM1_uc003vle.2_Missense_Mutation_p.I145T|SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vlf.3_Missense_Mutation_p.I145T|SPAM1_uc010lku.2_Missense_Mutation_p.I145T	p.I145T	NM_153189	NP_694859	P38567	HYALP_HUMAN			4	836	+			145					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.434T>C	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.803587	0.90623	0.0	1.16E-4	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	6.03	6.03	0.97812	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.050810	0.85682	D	0.000000	T	0.75810	0.3900	H	0.96208	3.785	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	D	0.83985	0.0334	9	.	.	.	-62.6135	15.7467	0.77949	0.0:0.0:0.0:1.0	.	145;145	Q8TC30;P38567	.;HYALP_HUMAN	T	145	ENSP00000386028:I145T;ENSP00000417934:I145T;ENSP00000345849:I145T;ENSP00000402123:I145T;ENSP00000223028:I145T	.	I	+	2	0	SPAM1	123381294	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.040000	0.89188	2.302000	0.77476	0.533000	0.62120	ATT		0.393	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1			14	35	0	0	0	0.00245	0	14	35				
PAX4	5078	broad.mit.edu	37	7	127251136	127251136	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:127251136T>A	ENST00000341640.2	-	9	1219	c.1014A>T	c.(1012-1014)ctA>ctT	p.L338L	PAX4_ENST00000338516.3_3'UTR|PAX4_ENST00000463946.1_Silent_p.L336L|PAX4_ENST00000378740.2_Intron	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	0	Transcription repression.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGCCATACAGTAGTGGGCAGC	0.567																																					Ovarian(113;737 1605 7858 27720 34092)	Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1		NA																	0				ovary(1)	1						c.(1012-1014)CTA>CTT		paired box 4							42.0	33.0	36.0					7																	127251136		2203	4300	6503	SO:0001819	synonymous_variant	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127251136T>A		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.1014A>T	7.37:g.127251136T>A						PAX4_uc003vmf.2_Silent_p.L336L|PAX4_uc003vmg.1_Intron	p.L338L	NM_006193	NP_006184	O43316	PAX4_HUMAN			9	1220	-			Error:Variant_position_missing_in_O43316_after_alignment					O95161|Q6B0H0	Silent	SNP	ENST00000341640.2	37	c.1014A>T	CCDS5797.1																																																																																				0.567	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			3	14	0	0	0	0.004672	0	3	14				
CCDC136	64753	broad.mit.edu	37	7	128454800	128454800	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:128454800C>G	ENST00000297788.4	+	15	3239	c.2872C>G	c.(2872-2874)Cag>Gag	p.Q958E	CCDC136_ENST00000471729.1_3'UTR|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	958						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GGGGCAGCTGCAGTGCTGCCA	0.582																																							uc003vnv.1		NA																	0				ovary(2)	2						c.(2872-2874)CAG>GAG		coiled-coil domain containing 136							22.0	26.0	25.0					7																	128454800		1909	4130	6039	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128454800C>G		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2872C>G	7.37:g.128454800C>G	ENSP00000297788:p.Gln958Glu					CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.Q774E|CCDC136_uc010llq.1_Missense_Mutation_p.Q327E|CCDC136_uc003vny.1_Intron	p.Q958E	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			15	3239	+			958			Potential.		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.2872C>G	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.3|20.3	3.973858|3.973858	0.74246|0.74246	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000494552|ENST00000297788;ENST00000397697	.|T	.|0.38401	.|1.14	6.16|6.16	5.28|5.28	0.74379|0.74379	.|.	.|0.242826	.|0.32106	.|N	.|0.006579	T|T	0.50701|0.50701	0.1631|0.1631	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.74348	.|0.983;0.945	T|T	0.47812|0.47812	-0.9088|-0.9088	5|10	.|0.06625	.|T	.|0.88	-34.2156|-34.2156	10.4736|10.4736	0.44652|0.44652	0.0:0.9147:0.0:0.0853|0.0:0.9147:0.0:0.0853	.|.	.|958;958	.|Q96JN2-4;Q96JN2	.|.;CC136_HUMAN	W|E	834|958	.|ENSP00000297788:Q958E	.|ENSP00000297788:Q958E	C|Q	+|+	3|1	2|0	CCDC136|CCDC136	128242036|128242036	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.534000|1.534000	0.36051|0.36051	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	TGC|CAG		0.582	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		3	24	0	0	0	0.004672	0	3	24				
CPA2	1358	broad.mit.edu	37	7	129909638	129909638	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:129909638G>T	ENST00000222481.4	+	3	338	c.283G>T	c.(283-285)Gtg>Ttg	p.V95L		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	95					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GATTGAAGACGTGCAGGTAAT	0.517																																							uc003vpq.2		NA																	0				ovary(1)	1						c.(283-285)GTG>TTG		carboxypeptidase A2 (pancreatic) precursor							134.0	97.0	110.0					7																	129909638		2203	4300	6503	SO:0001583	missense	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129909638G>T	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.283G>T	7.37:g.129909638G>T	ENSP00000222481:p.Val95Leu					CPA2_uc011kpc.1_Missense_Mutation_p.V95L	p.V95L	NM_001869	NP_001860	P48052	CBPA2_HUMAN			3	302	+	Melanoma(18;0.0435)		95					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	c.283G>T	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	G	6.830	0.522227	0.13066	.	.	ENSG00000158516	ENST00000222481	T	0.14391	2.51	5.47	4.53	0.55603	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.173955	0.38720	N	0.001590	T	0.08403	0.0209	N	0.20766	0.605	0.45477	D	0.998446	B;B	0.10296	0.003;0.002	B;B	0.17098	0.016;0.017	T	0.06661	-1.0814	10	0.02654	T	1	.	14.791	0.69844	0.0:0.2123:0.7877:0.0	.	93;95	B4DDX9;P48052	.;CBPA2_HUMAN	L	95	ENSP00000222481:V95L	ENSP00000222481:V95L	V	+	1	0	CPA2	129696874	0.071000	0.21146	1.000000	0.80357	0.903000	0.53119	0.089000	0.15002	2.723000	0.93209	0.655000	0.94253	GTG		0.517	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		11	21	1	0	3.86212e-05	0.008291	5.01347e-05	11	21				
WDR91	29062	broad.mit.edu	37	7	134881057	134881057	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:134881057T>A	ENST00000354475.4	-	8	1114	c.1083A>T	c.(1081-1083)ccA>ccT	p.P361P	WDR91_ENST00000485942.1_5'UTR|AC009542.2_ENST00000412549.2_RNA|WDR91_ENST00000344400.5_Silent_p.P361P|WDR91_ENST00000423565.1_Silent_p.P326P	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	361										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						GCTCAGCCTCTGGGCCACTGG	0.657																																							uc003vsp.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(1081-1083)CCA>CCT		WD repeat domain 91							44.0	44.0	44.0					7																	134881057		2203	4300	6503	SO:0001819	synonymous_variant	29062							g.chr7:134881057T>A	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1083A>T	7.37:g.134881057T>A						WDR91_uc010lmq.2_5'UTR|WDR91_uc010lmr.2_RNA	p.P361P	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN			8	1145	-			361					A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Silent	SNP	ENST00000354475.4	37	c.1083A>T	CCDS34758.1																																																																																				0.657	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		16	36	0	0	0	0.007413	0	16	36				
WEE2	494551	broad.mit.edu	37	7	141418964	141418964	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:141418964C>A	ENST00000397541.2	+	4	1084	c.678C>A	c.(676-678)gtC>gtA	p.V226V	WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000459753.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	226	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TTGGTACAGTCTACAAGTGCA	0.373																																							uc003vwn.2		NA																	0				ovary(1)|stomach(1)	2						c.(676-678)GTC>GTA		WEE1 homolog 2							118.0	115.0	116.0					7																	141418964		1812	4078	5890	SO:0001819	synonymous_variant	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141418964C>A	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.678C>A	7.37:g.141418964C>A						FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	p.V226V	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN			4	1084	+	Melanoma(164;0.0171)		226			ATP (By similarity).|Protein kinase.			Silent	SNP	ENST00000397541.2	37	c.678C>A	CCDS43660.1																																																																																				0.373	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		16	50	1	0	2.31682e-05	0.003163	3.07124e-05	16	50				
OR2A2	442361	broad.mit.edu	37	7	143806830	143806830	+	Missense_Mutation	SNP	C	C	G	rs376133150		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:143806830C>G	ENST00000408979.2	+	1	224	c.155C>G	c.(154-156)tCt>tGt	p.S52C		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGCCTGGACTCTAAGCTTCAC	0.493																																							uc011ktz.1		NA																	0				skin(2)	2						c.(154-156)TCT>TGT		olfactory receptor, family 2, subfamily A,		C	CYS/SER	0,4204		0,0,2102	210.0	209.0	209.0		155	-1.0	0.0	7		209	1,8509		0,1,4254	no	missense	OR2A2	NM_001005480.2	112	0,1,6356	GG,GC,CC		0.0118,0.0,0.0079	benign	52/319	143806830	1,12713	2102	4255	6357	SO:0001583	missense	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143806830C>G		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.155C>G	7.37:g.143806830C>G	ENSP00000386209:p.Ser52Cys						p.S52C	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			1	155	+	Melanoma(164;0.0783)		52			Cytoplasmic (Potential).		B2RN85|Q8NGT6	Missense_Mutation	SNP	ENST00000408979.2	37	c.155C>G	CCDS43671.1	.	.	.	.	.	.	.	.	.	.	C	4.041	0.005209	0.07866	0.0	1.18E-4	ENSG00000221989	ENST00000408979	T	0.01106	5.33	3.61	-0.955	0.10356	GPCR, rhodopsin-like superfamily (1);	0.952886	0.08494	U	0.937501	T	0.02380	0.0073	M	0.84082	2.675	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.33137	-0.9880	10	0.45353	T	0.12	3.643	8.6576	0.34073	0.2658:0.4892:0.245:0.0	.	52	Q6IF42	OR2A2_HUMAN	C	52	ENSP00000386209:S52C	ENSP00000386209:S52C	S	+	2	0	OR2A2	143437763	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.901000	0.00704	-0.688000	0.05155	-2.596000	0.00163	TCT		0.493	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			47	123	0	0	0	0.01441	0	47	123				
OR2A14	135941	broad.mit.edu	37	7	143826637	143826637	+	Silent	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:143826637T>A	ENST00000408899.2	+	1	487	c.432T>A	c.(430-432)gcT>gcA	p.A144A		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CTGTCCTGGCTGTGGCTTCCT	0.532																																							uc011kua.1		NA																	0					0						c.(430-432)GCT>GCA		olfactory receptor, family 2, subfamily A,							184.0	201.0	195.0					7																	143826637		2162	4265	6427	SO:0001819	synonymous_variant	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826637T>A		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.432T>A	7.37:g.143826637T>A							p.A144A	NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN			1	432	+	Melanoma(164;0.0783)		144			Helical; Name=4; (Potential).		Q6IF41|Q8NGT8	Silent	SNP	ENST00000408899.2	37	c.432T>A	CCDS43672.1																																																																																				0.532	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			63	155	0	0	0	0.01441	0	63	155				
AOC1	26	broad.mit.edu	37	7	150553579	150553579	+	Silent	SNP	C	C	G	rs531182439		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:150553579C>G	ENST00000493429.1	+	4	605	c.21C>G	c.(19-21)gcC>gcG	p.A7A	AOC1_ENST00000416793.2_Silent_p.A7A|AOC1_ENST00000467291.1_Silent_p.A7A|AOC1_ENST00000360937.4_Silent_p.A7A			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	7					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)									Amiloride(DB00594)	TGGGCTGGGCCGTGGCTGCCA	0.607																																						Pancreas(195;1227 3054 24912 28503)	uc003why.1		NA																	0				ovary(2)|breast(2)|skin(2)	6						c.(19-21)GCC>GCG		amiloride binding protein 1 precursor	Amiloride(DB00594)|Spermine(DB00127)						29.0	31.0	31.0					7																	150553579		1936	4124	6060	SO:0001819	synonymous_variant	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.chr7:150553579C>G	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.21C>G	7.37:g.150553579C>G						ABP1_uc003whz.1_Silent_p.A7A|ABP1_uc003wia.1_Silent_p.A7A	p.A7A	NM_001091	NP_001082	P19801	ABP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	4239	+	all_neural(206;0.219)		7					C9J690|Q16683|Q16684|Q56II4|Q6GU42	Silent	SNP	ENST00000493429.1	37	c.21C>G	CCDS43679.1																																																																																				0.607	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		4	28	0	0	0	0.009096	0	4	28				
KMT2C	58508	broad.mit.edu	37	7	151962193	151962193	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:151962193C>A	ENST00000262189.6	-	8	1332	c.1114G>T	c.(1114-1116)Gat>Tat	p.D372Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.D372Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	372					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACCGCTATATCCAGGCACATT	0.453																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(1114-1116)GAT>TAT		myeloid/lymphoid or mixed-lineage leukemia 3							505.0	449.0	468.0					7																	151962193		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151962193C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1114G>T	7.37:g.151962193C>A	ENSP00000262189:p.Asp372Tyr						p.D372Y	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	8	1333	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	372			PHD-type 1.|RING-type.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1114G>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957849	0.34565	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.98987	-5.3;-5.3	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.42682	U	0.000668	D	0.99152	0.9707	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99780	1.1027	10	0.72032	D	0.01	.	17.9157	0.88950	0.0:1.0:0.0:0.0	.	372	Q8NEZ4	MLL3_HUMAN	Y	372	ENSP00000262189:D372Y;ENSP00000347325:D372Y	ENSP00000262189:D372Y	D	-	1	0	MLL3	151593126	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	7.776000	0.85560	2.271000	0.75665	0.557000	0.71058	GAT		0.453	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			7	203	1	0	0.000673444	0.008291	0.000786638	7	203				
PTPRN2	5799	broad.mit.edu	37	7	157926730	157926730	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr7:157926730G>C	ENST00000389418.4	-	9	1204	c.1195C>G	c.(1195-1197)Ctc>Gtc	p.L399V	PTPRN2_ENST00000409483.1_Missense_Mutation_p.L361V|PTPRN2_ENST00000389413.3_Missense_Mutation_p.L399V|PTPRN2_ENST00000389416.4_Missense_Mutation_p.L382V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.L422V	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	399					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGCCCCCGAGTGTGGCACTC	0.602																																							uc003wno.2		NA																	0				ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(1195-1197)CTC>GTC		protein tyrosine phosphatase, receptor type, N							38.0	42.0	41.0					7																	157926730		2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157926730G>C	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1195C>G	7.37:g.157926730G>C	ENSP00000374069:p.Leu399Val					PTPRN2_uc003wnp.2_Missense_Mutation_p.L382V|PTPRN2_uc003wnq.2_Missense_Mutation_p.L399V|PTPRN2_uc003wnr.2_Missense_Mutation_p.L361V|PTPRN2_uc011kwa.1_Missense_Mutation_p.L422V	p.L399V	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	9	1316	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	399			Extracellular (Potential).		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.1195C>G	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585050	0.28268	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.04654	3.63;3.58;3.64;3.64;3.63	3.85	2.89	0.33648	.	.	.	.	.	T	0.05823	0.0152	L	0.32530	0.975	0.09310	N	1	P;P;P;P;P	0.52061	0.95;0.798;0.872;0.798;0.798	P;B;B;B;B	0.46339	0.513;0.221;0.395;0.221;0.221	T	0.40794	-0.9544	9	0.28530	T	0.3	.	10.4318	0.44411	0.0:0.0:0.8068:0.1932	.	422;361;399;382;399	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	V	361;399;382;399;422	ENSP00000387114:L361V;ENSP00000374064:L399V;ENSP00000374067:L382V;ENSP00000374069:L399V;ENSP00000385464:L422V	ENSP00000374064:L399V	L	-	1	0	PTPRN2	157619491	0.002000	0.14202	0.005000	0.12908	0.027000	0.11550	0.854000	0.27791	1.842000	0.53543	0.555000	0.69702	CTC		0.602	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			7	35	0	0	0	0.001984	0	7	35				
MYOM2	9172	broad.mit.edu	37	8	2056576	2056576	+	Splice_Site	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:2056576G>T	ENST00000262113.4	+	24	3139		c.e24-1		MYOM2_ENST00000523438.1_Splice_Site	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2						muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			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)		CTTCGTTTTAGAGCTCGAGCG	0.498																																							uc003wpx.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.e24-1		myomesin 2							139.0	130.0	133.0					8																	2056576		2203	4300	6503	SO:0001630	splice_region_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2056576G>T		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.2999-1G>T	8.37:g.2056576G>T						MYOM2_uc011kwi.1_Splice_Site_p.E425_splice	p.E1000_splice	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)	24	3137	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)						Q7Z3Y2	Splice_Site	SNP	ENST00000262113.4	37	c.2999_splice	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.442983	0.25987	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9079	0.92471	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYOM2	2043983	1.000000	0.71417	0.978000	0.43139	0.022000	0.10575	7.505000	0.81655	2.439000	0.82584	0.655000	0.94253	.		0.498	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	Intron	7	58	1	0	0.00198382	0.001984	0.00225226	7	58				
CSMD1	64478	broad.mit.edu	37	8	2807764	2807764	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:2807764G>T	ENST00000520002.1	-	68	10861	c.10306C>A	c.(10306-10308)Cta>Ata	p.L3436I	CSMD1_ENST00000542608.1_Missense_Mutation_p.L3258I|CSMD1_ENST00000602723.1_Missense_Mutation_p.L3259I|CSMD1_ENST00000602557.1_Missense_Mutation_p.L3436I|CSMD1_ENST00000400186.3_Missense_Mutation_p.L3259I|CSMD1_ENST00000537824.1_Missense_Mutation_p.L3435I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3436						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAACCATCTAGTCCCCAGTTG	0.433																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(10306-10308)CTA>ATA		CUB and Sushi multiple domains 1 precursor							165.0	165.0	165.0					8																	2807764		1868	4096	5964	SO:0001583	missense	64478					integral to membrane		g.chr8:2807764G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10306C>A	8.37:g.2807764G>T	ENSP00000430733:p.Leu3436Ile					CSMD1_uc011kwj.1_Missense_Mutation_p.L2750I|CSMD1_uc010lrg.2_Missense_Mutation_p.L1327I	p.L3436I	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)	67	10696	-		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)	3436			Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.10306C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.761|9.761	1.170113|1.170113	0.21621|0.21621	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.35236|.	1.32;1.55;1.58;1.32|.	5.14|5.14	3.28|3.28	0.37604|0.37604	.|.	0.265192|.	0.31601|.	N|.	0.007373|.	T|T	0.39436|0.39436	0.1078|0.1078	L|L	0.27053|0.27053	0.805|0.805	0.45415|0.45415	D|D	0.998394|0.998394	B;B;B|.	0.18461|.	0.003;0.009;0.028|.	B;B;B|.	0.18871|.	0.004;0.02;0.023|.	T|T	0.10086|0.10086	-1.0645|-1.0645	10|5	0.66056|.	D|.	0.02|.	.|.	5.2761|5.2761	0.15651|0.15651	0.1513:0.0:0.5627:0.286|0.1513:0.0:0.5627:0.286	.|.	3436;3436;3258|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	I|N	3259;3436;3297;3435;3258|2837	ENSP00000383047:L3259I;ENSP00000430733:L3436I;ENSP00000441462:L3435I;ENSP00000446243:L3258I|.	ENSP00000320445:L3297I|.	L|T	-|-	1|2	2|0	CSMD1|CSMD1	2795171|2795171	0.190000|0.190000	0.23276|0.23276	0.227000|0.227000	0.23927|0.23927	0.663000|0.663000	0.39108|0.39108	0.495000|0.495000	0.22483|0.22483	0.508000|0.508000	0.28173|0.28173	0.643000|0.643000	0.83706|0.83706	CTA|ACT		0.433	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		10	78	1	0	0.000978159	0.010729	0.00113486	10	78				
CSMD1	64478	broad.mit.edu	37	8	2857539	2857539	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:2857539G>C	ENST00000520002.1	-	54	8702	c.8147C>G	c.(8146-8148)aCt>aGt	p.T2716S	CSMD1_ENST00000542608.1_Missense_Mutation_p.T2657S|CSMD1_ENST00000602723.1_Missense_Mutation_p.T2658S|CSMD1_ENST00000602557.1_Missense_Mutation_p.T2716S|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2658S|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2715S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2716	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTCACGGAAGTTCCCACAAG	0.512																																							uc011kwk.1		NA																	0				breast(20)|large_intestine(5)	25						c.(8146-8148)ACT>AGT		CUB and Sushi multiple domains 1 precursor							160.0	158.0	158.0					8																	2857539		1964	4154	6118	SO:0001583	missense	64478					integral to membrane		g.chr8:2857539G>C			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.8147C>G	8.37:g.2857539G>C	ENSP00000430733:p.Thr2716Ser					CSMD1_uc011kwj.1_Missense_Mutation_p.T2045S|CSMD1_uc010lrg.2_Missense_Mutation_p.T726S	p.T2716S	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)	53	8537	-		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)	2716			Extracellular (Potential).|Sushi 18.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.8147C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.019|0.019	-1.449288|-1.449288	0.01080|0.01080	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.61742	.|0.08;0.08;0.08;0.08	5.77|5.77	4.89|4.89	0.63831|0.63831	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.063672	.|0.64402	.|D	.|0.000009	T|T	0.46268|0.46268	0.1384|0.1384	N|N	0.01482|0.01482	-0.84|-0.84	0.58432|0.58432	D|D	0.999997|0.999997	.|D;B;D	.|0.76494	.|0.992;0.06;0.999	.|D;B;D	.|0.81914	.|0.987;0.07;0.995	T|T	0.50533|0.50533	-0.8817|-0.8817	5|10	.|0.06757	.|T	.|0.87	.|.	15.2412|15.2412	0.73471|0.73471	0.0676:0.0:0.9324:0.0|0.0676:0.0:0.9324:0.0	.|.	.|2716;2716;2657	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	K|S	2132|2658;2716;2577;2715;2657	.|ENSP00000383047:T2658S;ENSP00000430733:T2716S;ENSP00000441462:T2715S;ENSP00000446243:T2657S	.|ENSP00000320445:T2577S	N|T	-|-	3|2	2|0	CSMD1|CSMD1	2844946|2844946	1.000000|1.000000	0.71417|0.71417	0.013000|0.013000	0.15412|0.15412	0.033000|0.033000	0.12548|0.12548	5.387000|5.387000	0.66243|0.66243	1.581000|1.581000	0.49865|0.49865	0.655000|0.655000	0.94253|0.94253	AAC|ACT		0.512	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		12	76	0	0	0	0.00245	0	12	76				
XKR6	286046	broad.mit.edu	37	8	10756321	10756321	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:10756321C>A	ENST00000416569.2	-	3	1093	c.1067G>T	c.(1066-1068)gGg>gTg	p.G356V	XKR6_ENST00000304437.2_Missense_Mutation_p.G77V	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	356						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GATGATGGCCCCTCTGTAGCT	0.542																																							uc003wtk.1		NA																	0				ovary(1)|skin(1)	2						c.(1066-1068)GGG>GTG		XK, Kell blood group complex subunit-related							140.0	115.0	123.0					8																	10756321		2203	4300	6503	SO:0001583	missense	286046					integral to membrane		g.chr8:10756321C>A	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1067G>T	8.37:g.10756321C>A	ENSP00000416707:p.Gly356Val						p.G356V	NM_173683	NP_775954	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1094	-			356					Q8TBA0	Missense_Mutation	SNP	ENST00000416569.2	37	c.1067G>T	CCDS5978.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.75|17.75	3.465182|3.465182	0.63513|0.63513	.|.	.|.	ENSG00000171044|ENSG00000171044	ENST00000304437;ENST00000416569|ENST00000382461	T;T|T	0.66460|0.66995	-0.21;-0.21|-0.24	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.82176|0.82176	0.4980|0.4980	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.85236|0.85236	0.1035|0.1035	10|8	0.87932|0.87932	D|D	0|0	-4.8812|-4.8812	17.7836|17.7836	0.88531|0.88531	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	356|.	Q5GH73|.	XKR6_HUMAN|.	V|W	77;356|133	ENSP00000307120:G77V;ENSP00000416707:G356V|ENSP00000371900:G133W	ENSP00000307120:G77V|ENSP00000371900:G133W	G|G	-|-	2|1	0|0	XKR6|XKR6	10793731|10793731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	7.818000|7.818000	0.86416|0.86416	2.425000|2.425000	0.82216|0.82216	0.561000|0.561000	0.74099|0.74099	GGG|GGG		0.542	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		11	76	1	0	5.16669e-11	0.010729	8.86454e-11	11	76				
ADAM28	10863	broad.mit.edu	37	8	24201028	24201028	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:24201028C>T	ENST00000265769.4	+	18	2031	c.1921C>T	c.(1921-1923)Cat>Tat	p.H641Y	RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.H388Y|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	641	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GGTGTGTGACCATGAGCTCCA	0.488																																					NSCLC(193;488 2149 22258 34798 40734)	NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.2		NA																	0				skin(3)|lung(1)|central_nervous_system(1)	5						c.(1921-1923)CAT>TAT		ADAM metallopeptidase domain 28 isoform 1							188.0	147.0	161.0					8																	24201028		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24201028C>T	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1921C>T	8.37:g.24201028C>T	ENSP00000265769:p.His641Tyr					ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Missense_Mutation_p.H328Y	p.H641Y	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	18	2004	+		Prostate(55;0.0959)	641			EGF-like.|Extracellular (Potential).		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.1921C>T	CCDS34865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.487332|4.487332	0.84854|0.84854	.|.	.|.	ENSG00000042980|ENSG00000042980	ENST00000265769;ENST00000397649|ENST00000521629;ENST00000518326	D;D|.	0.87571|.	-2.27;-2.27|.	5.37|5.37	5.37|5.37	0.77165|0.77165	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);|.	.|.	.|.	.|.	.|.	D|D	0.82990|0.82990	0.5157|0.5157	M|M	0.87758|0.87758	2.905|2.905	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.998|.	P;P|.	0.59115|.	0.852;0.852|.	D|D	0.85085|0.85085	0.0948|0.0948	9|5	0.72032|.	D|.	0.01|.	.|.	16.963|16.963	0.86278|0.86278	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	641;641|.	B2RMV5;Q9UKQ2|.	.;ADA28_HUMAN|.	Y|L	641;388|273;66	ENSP00000265769:H641Y;ENSP00000380770:H388Y|.	ENSP00000265769:H641Y|.	H|P	+|+	1|2	0|0	ADAM28|ADAM28	24256973|24256973	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	6.045000|6.045000	0.71020|0.71020	2.697000|2.697000	0.92050|0.92050	0.655000|0.655000	0.94253|0.94253	CAT|CCA		0.488	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778		5	11	0	0	0	0.000602	0	5	11				
CHRNA6	8973	broad.mit.edu	37	8	42612118	42612118	+	Silent	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:42612118G>A	ENST00000276410.2	-	4	682	c.327C>T	c.(325-327)cgC>cgT	p.R109R	CHRNA6_ENST00000534622.1_Silent_p.R94R|CHRNA6_ENST00000530869.1_5'UTR	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	109					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	CTGCAGGAACGCGAAGAGTCT	0.388																																							uc003xpj.2		NA																	0					0						c.(325-327)CGC>CGT		cholinergic receptor, nicotinic, alpha 6							98.0	100.0	99.0					8																	42612118		2203	4300	6503	SO:0001819	synonymous_variant	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42612118G>A	U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.327C>T	8.37:g.42612118G>A						CHRNA6_uc011lcw.1_Silent_p.R94R	p.R109R	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		4	373	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	109			Extracellular.		B2R8V4|B4DQH1	Silent	SNP	ENST00000276410.2	37	c.327C>T	CCDS6135.1																																																																																				0.388	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			13	45	0	0	0	0.003163	0	13	45				
SNTG1	54212	broad.mit.edu	37	8	51449274	51449274	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:51449274G>T	ENST00000522124.1	+	11	1247	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C	SNTG1_ENST00000276467.5_Missense_Mutation_p.G196C|SNTG1_ENST00000517473.1_Missense_Mutation_p.G196C|SNTG1_ENST00000518864.1_Missense_Mutation_p.G196C	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	196					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GACGTCTCCAGGCTTGAGGTG	0.473																																							uc010lxy.1		NA																	0				ovary(5)	5						c.(586-588)GGC>TGC		syntrophin, gamma 1							196.0	177.0	183.0					8																	51449274		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51449274G>T	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.586G>T	8.37:g.51449274G>T	ENSP00000429842:p.Gly196Cys					SNTG1_uc003xqs.1_Missense_Mutation_p.G196C|SNTG1_uc010lxz.1_Missense_Mutation_p.G196C|SNTG1_uc011ldl.1_RNA	p.G196C	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			12	957	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	196					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.586G>T	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.752985	0.69648	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	4.81	4.81	0.61882	Pleckstrin homology domain (1);	0.046837	0.85682	D	0.000000	T	0.55800	0.1943	L	0.34521	1.04	0.80722	D	1	D;D	0.65815	0.97;0.995	P;P	0.55112	0.716;0.769	T	0.55623	-0.8112	10	0.39692	T	0.17	.	16.4512	0.83991	0.0:0.0:1.0:0.0	.	196;196	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	C	196	ENSP00000429276:G196C;ENSP00000429842:G196C;ENSP00000431123:G196C;ENSP00000276467:G196C	ENSP00000276467:G196C	G	+	1	0	SNTG1	51611827	1.000000	0.71417	0.465000	0.27155	0.857000	0.48899	8.094000	0.89533	2.223000	0.72356	0.491000	0.48974	GGC		0.473	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			12	112	1	0	3.07112e-06	0.010729	4.26854e-06	12	112				
PXDNL	137902	broad.mit.edu	37	8	52320835	52320835	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:52320835G>T	ENST00000356297.4	-	17	3449	c.3349C>A	c.(3349-3351)Ctt>Att	p.L1117I	PXDNL_ENST00000543296.1_Missense_Mutation_p.L1117I	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1117					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGACTGAGAAGGTAGGAGGGT	0.582																																							uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(3349-3351)CTT>ATT		peroxidasin homolog-like precursor							54.0	61.0	59.0					8																	52320835		1917	4124	6041	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52320835G>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.3349C>A	8.37:g.52320835G>T	ENSP00000348645:p.Leu1117Ile					PXDNL_uc003xqt.3_RNA	p.L1117I	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	3450	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	1117					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.3349C>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	G	7.118	0.577413	0.13686	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.67698	-0.28;-0.28	3.82	2.92	0.33932	.	0.207471	0.24229	N	0.040362	T	0.60650	0.2285	L	0.45698	1.435	0.28554	N	0.911484	P	0.42123	0.771	P	0.48334	0.574	T	0.52139	-0.8615	10	0.27082	T	0.32	.	4.6622	0.12648	0.1175:0.0:0.6635:0.219	.	1117	A1KZ92	PXDNL_HUMAN	I	1117	ENSP00000348645:L1117I;ENSP00000444865:L1117I	ENSP00000348645:L1117I	L	-	1	0	PXDNL	52483388	0.992000	0.36948	0.002000	0.10522	0.001000	0.01503	2.055000	0.41345	0.546000	0.28920	-0.182000	0.12963	CTT		0.582	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		9	73	1	0	2.17888e-05	0.006214	2.89955e-05	9	73				
PXDNL	137902	broad.mit.edu	37	8	52370149	52370149	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:52370149C>A	ENST00000356297.4	-	9	991	c.891G>T	c.(889-891)gaG>gaT	p.E297D	PXDNL_ENST00000543296.1_Missense_Mutation_p.E297D	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	297	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTTGGTCTGACTCTCTGGTGT	0.453																																							uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(889-891)GAG>GAT		peroxidasin homolog-like precursor							164.0	163.0	163.0					8																	52370149		1976	4162	6138	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52370149C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.891G>T	8.37:g.52370149C>A	ENSP00000348645:p.Glu297Asp						p.E297D	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			9	992	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	297			Ig-like C2-type 1.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.891G>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962093	0.34659	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.40476	1.03;1.03	3.71	2.82	0.32997	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38558	0.1045	L	0.38733	1.17	0.24000	N	0.996216	B	0.27594	0.182	B	0.41135	0.348	T	0.42783	-0.9431	9	0.29301	T	0.29	.	7.2078	0.25917	0.0:0.8698:0.0:0.1302	.	297	A1KZ92	PXDNL_HUMAN	D	297	ENSP00000348645:E297D;ENSP00000444865:E297D	ENSP00000348645:E297D	E	-	3	2	PXDNL	52532702	1.000000	0.71417	0.948000	0.38648	0.936000	0.57629	0.788000	0.26872	0.665000	0.31066	0.555000	0.69702	GAG		0.453	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		6	80	1	0	8.12818e-05	0.001984	0.000102047	6	80				
SOX17	64321	broad.mit.edu	37	8	55372454	55372454	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:55372454C>T	ENST00000297316.4	+	2	1348	c.1144C>T	c.(1144-1146)Cat>Tat	p.H382Y		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	382	Sox C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00849}.				angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CTACCAGGGGCATGACTCCGG	0.612																																							uc003xsb.3		NA																	0				lung(1)	1						c.(1144-1146)CAT>TAT		SRY-box 17							41.0	47.0	45.0					8																	55372454		2203	4300	6503	SO:0001583	missense	64321				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr8:55372454C>T	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.1144C>T	8.37:g.55372454C>T	ENSP00000297316:p.His382Tyr						p.H382Y	NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)		2	1348	+		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	382			Sox C-terminal.			Missense_Mutation	SNP	ENST00000297316.4	37	c.1144C>T	CCDS6159.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345432	0.82022	.	.	ENSG00000164736	ENST00000297316	T	0.76709	-1.04	5.22	5.22	0.72569	.	0.061993	0.64402	D	0.000004	T	0.80071	0.4556	M	0.66939	2.045	0.44927	D	0.997942	P	0.43231	0.801	P	0.46629	0.522	T	0.82514	-0.0419	10	0.72032	D	0.01	.	13.1253	0.59351	0.0:0.923:0.0:0.077	.	382	Q9H6I2	SOX17_HUMAN	Y	382	ENSP00000297316:H382Y	ENSP00000297316:H382Y	H	+	1	0	SOX17	55535007	0.005000	0.15991	0.889000	0.34880	0.816000	0.46133	1.423000	0.34837	2.446000	0.82766	0.555000	0.69702	CAT		0.612	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378526.2			6	13	0	0	0	0.001168	0	6	13				
RP1	6101	broad.mit.edu	37	8	55540348	55540348	+	Silent	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:55540348C>G	ENST00000220676.1	+	4	4054	c.3906C>G	c.(3904-3906)gtC>gtG	p.V1302V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1302					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAGGAGAGGTCTGTTCACTTA	0.433																																					Colon(91;1014 1389 7634 14542 40420)	Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(3904-3906)GTC>GTG		retinitis pigmentosa RP1 protein							156.0	152.0	153.0					8																	55540348		2203	4300	6503	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55540348C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3906C>G	8.37:g.55540348C>G						RP1_uc011ldy.1_Intron	p.V1302V	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	4054	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1302						Silent	SNP	ENST00000220676.1	37	c.3906C>G	CCDS6160.1																																																																																				0.433	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		13	83	0	0	0	0.013537	0	13	83				
JPH1	56704	broad.mit.edu	37	8	75227380	75227380	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:75227380C>T	ENST00000342232.4	-	2	895	c.855G>A	c.(853-855)tgG>tgA	p.W285*		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	285					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TGTCGTTCTTCCACTCGCCCA	0.537																																							uc003yae.2		NA																	0				ovary(1)	1						c.(853-855)TGG>TGA		junctophilin 1							145.0	136.0	139.0					8																	75227380		2203	4300	6503	SO:0001587	stop_gained	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75227380C>T	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.855G>A	8.37:g.75227380C>T	ENSP00000344488:p.Trp285*					JPH1_uc003yaf.2_Nonsense_Mutation_p.W285*|JPH1_uc003yag.1_Nonsense_Mutation_p.W149*	p.W285*	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		2	895	-	Breast(64;0.00576)		285			Cytoplasmic (Potential).|MORN 6.		B2RTZ0	Nonsense_Mutation	SNP	ENST00000342232.4	37	c.855G>A	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	38	7.038498	0.98021	.	.	ENSG00000104369	ENST00000342232	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.8382	0.92171	0.0:1.0:0.0:0.0	.	.	.	.	X	285	.	ENSP00000344488:W285X	W	-	3	0	JPH1	75389935	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.597000	0.82733	2.669000	0.90835	0.655000	0.94253	TGG		0.537	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			4	94	0	0	0	0.009096	0	4	94				
RUNX1T1	862	broad.mit.edu	37	8	92999186	92999186	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:92999186G>T	ENST00000523629.1	-	8	1460	c.1006C>A	c.(1006-1008)Cgt>Agt	p.R336S	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R336S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R309S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R299S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R347S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R299S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R309S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R299S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	336					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCTTCTTGACGTGTGCCATGC	0.408																																							uc003yfd.2		NA																	0				lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(1006-1008)CGT>AGT		acute myelogenous leukemia 1 translocation 1							221.0	194.0	203.0					8																	92999186		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92999186G>T	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1006C>A	8.37:g.92999186G>T	ENSP00000428543:p.Arg336Ser					RUNX1T1_uc003yfc.1_Missense_Mutation_p.R309S|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R299S|RUNX1T1_uc010mao.2_Missense_Mutation_p.R309S|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R347S|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R299S	p.R336S	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		7	1090	-			336					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1006C>A	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049343	0.36181	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.32515	1.48;1.45;1.48;1.45;1.45;1.45;1.48;1.45	5.39	5.39	0.77823	.	0.115830	0.64402	D	0.000007	T	0.40398	0.1115	M	0.62723	1.935	0.58432	D	0.999995	B;B;P	0.38300	0.116;0.151;0.626	B;B;B	0.43701	0.031;0.074;0.428	T	0.09796	-1.0658	10	0.21014	T	0.42	-11.4307	19.1841	0.93635	0.0:0.0:1.0:0.0	.	347;336;309	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	S	336;309;336;299;299;299;347;309	ENSP00000428543:R336S;ENSP00000379520:R309S;ENSP00000265814:R336S;ENSP00000353504:R299S;ENSP00000390137:R299S;ENSP00000428742:R299S;ENSP00000402257:R347S;ENSP00000430728:R309S	ENSP00000265814:R336S	R	-	1	0	RUNX1T1	93068362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.042000	0.70996	2.537000	0.85549	0.655000	0.94253	CGT		0.408	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		22	46	1	0	1.36565e-18	0.00278	2.62448e-18	22	46				
RUNX1T1	862	broad.mit.edu	37	8	93026891	93026891	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:93026891C>A	ENST00000523629.1	-	4	838	c.384G>T	c.(382-384)agG>agT	p.R128S	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R128S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R101S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R91S|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R91S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R139S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R91S|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R101S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R91S	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	128	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TAGTAAGGAACCTTTTCAGCT	0.522																																							uc003yfd.2		NA																	0				lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(382-384)AGG>AGT		acute myelogenous leukemia 1 translocation 1							93.0	89.0	90.0					8																	93026891		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93026891C>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.384G>T	8.37:g.93026891C>A	ENSP00000428543:p.Arg128Ser					RUNX1T1_uc003yfc.1_Missense_Mutation_p.R101S|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R91S|RUNX1T1_uc010mao.2_Missense_Mutation_p.R101S|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R139S|RUNX1T1_uc003yfh.1_Missense_Mutation_p.R91S|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R91S|RUNX1T1_uc003yff.1_Missense_Mutation_p.R91S|RUNX1T1_uc003yfg.1_Missense_Mutation_p.R91S	p.R128S	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		3	468	-			128	R->D: Loss of interaction with TCF12.		TAFH.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.384G>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.024401	0.75390	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054;ENST00000519847;ENST00000517792;ENST00000522467;ENST00000517919;ENST00000521733;ENST00000520556	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82;0.82	6.05	0.634	0.17718	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.59169	0.2174	M	0.77103	2.36	0.80722	D	1	P;P;D;P;P	0.61697	0.542;0.915;0.99;0.915;0.695	P;P;D;D;P	0.73380	0.752;0.899;0.98;0.943;0.788	T	0.55379	-0.8150	10	0.46703	T	0.11	-15.7826	2.8554	0.05571	0.3922:0.193:0.0:0.4148	.	139;139;101;128;101	E7EPN4;B7Z4P4;B2R6I9;Q06455;Q06455-2	.;.;.;MTG8_HUMAN;.	S	128;101;128;91;91;91;139;101;91;128;91;128;91;128;128;101;91	ENSP00000428543:R128S;ENSP00000379520:R101S;ENSP00000265814:R128S;ENSP00000353504:R91S;ENSP00000390137:R91S;ENSP00000428742:R91S;ENSP00000402257:R139S;ENSP00000430728:R101S;ENSP00000429728:R91S;ENSP00000431094:R128S;ENSP00000427763:R91S;ENSP00000430204:R128S;ENSP00000429940:R91S;ENSP00000429532:R128S	ENSP00000265814:R128S	R	-	3	2	RUNX1T1	93096067	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.685000	0.25378	0.183000	0.20059	0.650000	0.86243	AGG		0.522	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		16	49	1	0	3.45872e-05	0.004007	4.55862e-05	16	49				
PKHD1L1	93035	broad.mit.edu	37	8	110447520	110447520	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:110447520G>T	ENST00000378402.5	+	29	3546	c.3442G>T	c.(3442-3444)Gag>Tag	p.E1148*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1148	IPT/TIG 4.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGGGGTGAAGAGTTCTACTT	0.438										HNSCC(38;0.096)																													uc003yne.2		NA																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(3442-3444)GAG>TAG		fibrocystin L precursor							201.0	201.0	201.0					8																	110447520		1881	4129	6010	SO:0001587	stop_gained	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110447520G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3442G>T	8.37:g.110447520G>T	ENSP00000367655:p.Glu1148*	HNSCC(38;0.096)					p.E1148*	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		29	3546	+			1148			Extracellular (Potential).|IPT/TIG 4.		Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	c.3442G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	35	5.547009	0.96488	.	.	ENSG00000205038	ENST00000378402	.	.	.	6.07	-2.23	0.06930	.	2.917390	0.00877	N	0.002095	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	7.1977	0.25862	0.3718:0.2045:0.4237:0.0	.	.	.	.	X	1148	.	ENSP00000367655:E1148X	E	+	1	0	PKHD1L1	110516696	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.298000	0.08265	-0.620000	0.05641	-2.443000	0.00211	GAG		0.438	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		44	102	1	0	1.06522e-23	0.013114	2.09992e-23	44	102				
CSMD3	114788	broad.mit.edu	37	8	113243813	113243813	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:113243813G>T	ENST00000297405.5	-	69	11033	c.10789C>A	c.(10789-10791)Caa>Aaa	p.Q3597K	CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3557K|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3428K|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3527K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3597						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTTTGCCTTGAATAAATCCT	0.323										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10789-10791)CAA>AAA		CUB and Sushi multiple domains 3 isoform 1							128.0	137.0	134.0					8																	113243813		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113243813G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10789C>A	8.37:g.113243813G>T	ENSP00000297405:p.Gln3597Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.Q2799K|CSMD3_uc003ynt.2_Missense_Mutation_p.Q3557K|CSMD3_uc011lhx.1_Missense_Mutation_p.Q3428K	p.Q3597K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			69	10948	-			3597			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10789C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	7.046	0.563584	0.13498	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.22336	2.26;2.26;2.28;1.96;2.28	5.15	4.25	0.50352	.	0.075138	0.56097	N	0.000040	T	0.15176	0.0366	L	0.34521	1.04	0.35358	D	0.787983	B;B;B	0.24882	0.002;0.021;0.113	B;B;B	0.24541	0.004;0.014;0.054	T	0.08889	-1.0700	10	0.06625	T	0.88	.	15.0302	0.71701	0.0:0.0:0.8524:0.1476	.	3428;3597;3557	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	3557;3597;2867;3428;3527	ENSP00000345799:Q3557K;ENSP00000297405:Q3597K;ENSP00000341558:Q2867K;ENSP00000412263:Q3428K;ENSP00000343124:Q3527K	ENSP00000297405:Q3597K	Q	-	1	0	CSMD3	113312989	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.553000	0.82203	1.479000	0.48272	0.585000	0.79938	CAA		0.323	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		28	94	1	0	3.03874e-20	0.003271	5.92253e-20	28	94				
MROH5	389690	broad.mit.edu	37	8	142476535	142476535	+	RNA	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:142476535G>T	ENST00000430863.1	-	0	2531					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		AGATGTTCAGGAAGGTGGCCA	0.647																																							uc003ywi.2		NA																	0					0						c.(2449-2451)TTC>TTA		hypothetical protein LOC389690							76.0	88.0	84.0					8																	142476535		2143	4244	6387			389690						binding	g.chr8:142476535G>T			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142476535G>T						FLJ43860_uc011ljs.1_RNA|FLJ43860_uc010meu.1_RNA	p.F817L	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		19	2532	-	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		817						Missense_Mutation	SNP	ENST00000430863.1	37	c.2451C>A																																																																																					0.647	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		7	12	1	0	8.12818e-05	0.001984	0.000102047	7	12				
CYP11B2	1585	broad.mit.edu	37	8	143993975	143993975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:143993975C>A	ENST00000323110.2	-	8	1371	c.1369G>T	c.(1369-1371)Gag>Tag	p.E457*		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	457					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	ATCTCTGCCTCTGCCAGGCGC	0.692									Familial Hyperaldosteronism type I																														uc003yxk.1		NA																	0					0						c.(1369-1371)GAG>TAG		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						44.0	51.0	49.0					8																	143993975		2203	4299	6502	SO:0001587	stop_gained	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143993975C>A	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1369G>T	8.37:g.143993975C>A	ENSP00000325822:p.Glu457*						p.E457*	NM_000498	NP_000489	P19099	C11B2_HUMAN			8	1372	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		457					B0ZBE4|Q16726	Nonsense_Mutation	SNP	ENST00000323110.2	37	c.1369G>T	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	16.30	3.083345	0.55861	.	.	ENSG00000179142	ENST00000323110	.	.	.	3.52	2.63	0.31362	.	0.250311	0.28006	N	0.016976	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.4852	0.33067	0.0:0.8811:0.0:0.1189	.	.	.	.	X	457	.	ENSP00000325822:E457X	E	-	1	0	CYP11B2	143990977	0.993000	0.37304	0.015000	0.15790	0.027000	0.11550	3.518000	0.53451	0.793000	0.33875	0.563000	0.77884	GAG		0.692	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			6	38	1	0	0.000442599	0.006214	0.000527744	6	38				
PLEC	5339	broad.mit.edu	37	8	144993686	144993686	+	Missense_Mutation	SNP	C	C	G	rs375044211		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr8:144993686C>G	ENST00000322810.4	-	32	10883	c.10714G>C	c.(10714-10716)Ggc>Cgc	p.G3572R	PLEC_ENST00000436759.2_Missense_Mutation_p.G3462R|PLEC_ENST00000354589.3_Missense_Mutation_p.G3435R|PLEC_ENST00000356346.3_Missense_Mutation_p.G3421R|PLEC_ENST00000354958.2_Missense_Mutation_p.G3413R|PLEC_ENST00000527096.1_Missense_Mutation_p.G3458R|PLEC_ENST00000357649.2_Missense_Mutation_p.G3439R|PLEC_ENST00000345136.3_Missense_Mutation_p.G3435R|PLEC_ENST00000398774.2_Missense_Mutation_p.G3403R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3572	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTCTGTAGCCGGTGACGGCC	0.677																																							uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(10714-10716)GGC>CGC		plectin isoform 1							37.0	44.0	41.0					8																	144993686		1970	4145	6115	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144993686C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10714G>C	8.37:g.144993686C>G	ENSP00000323856:p.Gly3572Arg					PLEC_uc003zab.1_Missense_Mutation_p.G3435R|PLEC_uc003zac.1_Missense_Mutation_p.G3439R|PLEC_uc003zad.2_Missense_Mutation_p.G3435R|PLEC_uc003zae.1_Missense_Mutation_p.G3403R|PLEC_uc003zag.1_Missense_Mutation_p.G3413R|PLEC_uc003zah.2_Missense_Mutation_p.G3421R|PLEC_uc003zaj.2_Missense_Mutation_p.G3462R	p.G3572R	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	10884	-			3572			Plectin 14.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.10714G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	9.405	1.079040	0.20227	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.03	5.03	0.67393	.	0.000000	0.64402	U	0.000005	D	0.85630	0.5741	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.87676	0.2544	10	0.87932	D	0	.	18.1723	0.89749	0.0:1.0:0.0:0.0	.	3462;3421;3413;3572;3403;3435;3439;3435	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	R	3435;3439;3435;3403;3572;3413;3421;3462;3458	ENSP00000344848:G3435R;ENSP00000350277:G3439R;ENSP00000346602:G3435R;ENSP00000381756:G3403R;ENSP00000323856:G3572R;ENSP00000347044:G3413R;ENSP00000348702:G3421R;ENSP00000388180:G3462R;ENSP00000434583:G3458R	ENSP00000323856:G3572R	G	-	1	0	PLEC	145065674	1.000000	0.71417	0.932000	0.37286	0.027000	0.11550	7.604000	0.82830	2.613000	0.88420	0.448000	0.29417	GGC		0.677	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		7	38	0	0	0	0.006214	0	7	38				
DMRT3	58524	broad.mit.edu	37	9	990229	990229	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:990229G>C	ENST00000190165.2	+	2	681	c.643G>C	c.(643-645)Gag>Cag	p.E215Q		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	215					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E78*(1)|p.E215*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGGCAACCCCGAGAGCCGCCC	0.587																																							uc003zgw.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(643-645)GAG>CAG		doublesex and mab-3 related transcription factor							50.0	59.0	56.0					9																	990229		2203	4300	6503	SO:0001583	missense	58524				cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:990229G>C	AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.643G>C	9.37:g.990229G>C	ENSP00000190165:p.Glu215Gln						p.E215Q	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	681	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	215					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.643G>C	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	G	5.066	0.197875	0.09652	.	.	ENSG00000064218	ENST00000190165;ENST00000417254	T;T	0.32023	1.47;1.47	4.93	4.02	0.46733	.	0.421937	0.23902	N	0.043424	T	0.29458	0.0734	L	0.47716	1.5	0.38718	D	0.953385	B	0.18310	0.027	B	0.22152	0.038	T	0.09662	-1.0664	10	0.35671	T	0.21	-13.6859	14.5247	0.67878	0.0:0.0:0.852:0.148	.	215	Q9NQL9	DMRT3_HUMAN	Q	215;78	ENSP00000190165:E215Q;ENSP00000387472:E78Q	ENSP00000190165:E215Q	E	+	1	0	DMRT3	980229	1.000000	0.71417	0.517000	0.27799	0.007000	0.05969	5.807000	0.69157	1.059000	0.40554	-0.321000	0.08615	GAG		0.587	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		10	32	0	0	0	0.006214	0	10	32				
PTPRD	5789	broad.mit.edu	37	9	8517929	8517929	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:8517929A>C	ENST00000381196.4	-	18	2005	c.1462T>G	c.(1462-1464)Tat>Gat	p.Y488D	PTPRD_ENST00000537002.1_Missense_Mutation_p.Y485D|PTPRD_ENST00000355233.5_Missense_Mutation_p.Y488D|PTPRD_ENST00000356435.5_Missense_Mutation_p.Y488D|PTPRD_ENST00000358503.5_Missense_Mutation_p.Y475D|PTPRD_ENST00000486161.1_Missense_Mutation_p.Y488D|PTPRD_ENST00000360074.4_Missense_Mutation_p.Y475D|PTPRD_ENST00000397617.3_Missense_Mutation_p.Y478D|PTPRD_ENST00000397606.3_Missense_Mutation_p.Y478D|PTPRD_ENST00000397611.3_Missense_Mutation_p.Y485D|PTPRD_ENST00000540109.1_Missense_Mutation_p.Y488D	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	488	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTGACAGAATATGTTTTCTGG	0.428										TSP Lung(15;0.13)																													uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(1462-1464)TAT>GAT		protein tyrosine phosphatase, receptor type, D							211.0	184.0	194.0					9																	8517929		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8517929A>C	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1462T>G	9.37:g.8517929A>C	ENSP00000370593:p.Tyr488Asp	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.Y488D|PTPRD_uc003zkq.2_Missense_Mutation_p.Y488D|PTPRD_uc003zkr.2_Missense_Mutation_p.Y482D|PTPRD_uc003zks.2_Missense_Mutation_p.Y478D|PTPRD_uc003zkl.2_Missense_Mutation_p.Y488D|PTPRD_uc003zkm.2_Missense_Mutation_p.Y475D|PTPRD_uc003zkn.2_Missense_Mutation_p.Y488D|PTPRD_uc003zko.2_Missense_Mutation_p.Y485D	p.Y488D	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	20	2173	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	488			Fibronectin type-III 2.|Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1462T>G	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.485419	0.44147	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.31	5.31	0.75309	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97037	0.9032	H	0.99117	4.435	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.999;0.998;1.0;0.999;0.999;1.0	D	0.98784	1.0733	9	.	.	.	.	15.2636	0.73643	1.0:0.0:0.0:0.0	.	478;482;488;488;485;485;475;488;488	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	D	488;488;475;475;488;478;485;485;488;488;488;478	ENSP00000370593:Y488D;ENSP00000348812:Y488D;ENSP00000353187:Y475D;ENSP00000351293:Y475D;ENSP00000347373:Y488D;ENSP00000380741:Y478D;ENSP00000380735:Y485D;ENSP00000440515:Y485D;ENSP00000438164:Y488D;ENSP00000417093:Y488D;ENSP00000380731:Y478D	.	Y	-	1	0	PTPRD	8507929	1.000000	0.71417	0.991000	0.47740	0.029000	0.11900	8.904000	0.92590	2.010000	0.58986	0.383000	0.25322	TAT		0.428	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			9	46	0	0	0	0.006214	0	9	46				
MPDZ	8777	broad.mit.edu	37	9	13183472	13183472	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:13183472C>G	ENST00000319217.7	-	19	2841	c.2594G>C	c.(2593-2595)aGt>aCt	p.S865T	MPDZ_ENST00000536827.1_Missense_Mutation_p.S865T|MPDZ_ENST00000447879.1_Missense_Mutation_p.S865T|MPDZ_ENST00000546205.1_Missense_Mutation_p.S865T|MPDZ_ENST00000381015.4_Missense_Mutation_p.S865T|MPDZ_ENST00000381022.2_Missense_Mutation_p.S865T|MPDZ_ENST00000541718.1_Missense_Mutation_p.S865T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	865					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACCACAAGAACTGCCATGAAG	0.403																																							uc010mia.1		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(2593-2595)AGT>ACT		multiple PDZ domain protein							101.0	96.0	97.0					9																	13183472		1892	4122	6014	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13183472C>G	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2594G>C	9.37:g.13183472C>G	ENSP00000320006:p.Ser865Thr					MPDZ_uc010mhy.2_Missense_Mutation_p.S865T|MPDZ_uc010mhz.2_Missense_Mutation_p.S865T|MPDZ_uc011lmn.1_Missense_Mutation_p.S865T|MPDZ_uc003zlb.3_Missense_Mutation_p.S865T	p.S865T	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	18	2651	-			865					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.2594G>C		.	.	.	.	.	.	.	.	.	.	C	17.55	3.418679	0.62622	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.15952	2.46;2.4;2.4;2.38;2.4;2.46;2.47	5.75	4.83	0.62350	.	0.129757	0.35378	N	0.003252	T	0.23532	0.0569	L	0.32530	0.975	0.80722	D	1	P;P;P	0.52577	0.847;0.905;0.954	P;P;P	0.54965	0.502;0.698;0.765	T	0.02411	-1.1163	10	0.13853	T	0.58	.	16.5268	0.84333	0.0:0.8691:0.1309:0.0	.	865;865;865	B7ZMI4;O75970-3;O75970-2	.;.;.	T	865;865;865;865;865;865;815;865	ENSP00000320006:S865T;ENSP00000439807:S865T;ENSP00000370410:S865T;ENSP00000444151:S865T;ENSP00000415208:S865T;ENSP00000370403:S865T;ENSP00000446358:S865T	ENSP00000320006:S865T	S	-	2	0	MPDZ	13173472	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.335000	0.52105	1.375000	0.46248	0.650000	0.86243	AGT		0.403	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		5	15	0	0	0	0.001168	0	5	15				
TAF1L	138474	broad.mit.edu	37	9	32634807	32634807	+	Silent	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:32634807T>C	ENST00000242310.4	-	1	860	c.771A>G	c.(769-771)aaA>aaG	p.K257K	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	257					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)			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)		AGCGTAACACTTTTCCAGGTC	0.488																																							uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(769-771)AAA>AAG		TBP-associated factor RNA polymerase 1-like							132.0	123.0	126.0					9																	32634807		2203	4300	6503	SO:0001819	synonymous_variant	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.chr9:32634807T>C	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.771A>G	9.37:g.32634807T>C						uc003zrh.1_RNA	p.K257K	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	861	-			257					Q0VG57	Silent	SNP	ENST00000242310.4	37	c.771A>G	CCDS35003.1																																																																																				0.488	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			23	69	0	0	0	0.00278	0	23	69				
SLC25A51	92014	broad.mit.edu	37	9	37888039	37888039	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:37888039C>A	ENST00000377716.2	-	3	1252	c.509G>T	c.(508-510)gGa>gTa	p.G170V	SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000242275.6_Missense_Mutation_p.G170V|SLC25A51_ENST00000380590.3_Missense_Mutation_p.G170V|RP11-613M10.9_ENST00000540557.1_Intron			Q9H1U9	S2551_HUMAN	solute carrier family 25, member 51	170					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											ATAATACTCTCCAATTCCATG	0.458																																							uc004aau.2		NA																	0				ovary(2)|breast(1)	3						c.(508-510)GGA>GTA		mitochondrial carrier triple repeat 1							129.0	123.0	125.0					9																	37888039		2203	4300	6503	SO:0001583	missense	92014				transport	integral to membrane|mitochondrial inner membrane		g.chr9:37888039C>A	BC008500	CCDS6614.1	9p13.3-p12	2013-05-22	2012-03-29	2012-03-29	ENSG00000122696	ENSG00000122696		"""Solute carriers"""	23323	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 1"""	MCART1		12477932	Standard	NM_033412		Approved	MGC14836, CG7943	uc004aav.2	Q9H1U9	OTTHUMG00000019935	ENST00000377716.2:c.509G>T	9.37:g.37888039C>A	ENSP00000366945:p.Gly170Val					MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.G170V	p.G170V	NM_033412	NP_219480	Q9H1U9	MCAR1_HUMAN		GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422)	3	1253	-			170			Solcar 2.			Missense_Mutation	SNP	ENST00000377716.2	37	c.509G>T	CCDS6614.1	.	.	.	.	.	.	.	.	.	.	.	10.54	1.377853	0.24944	.	.	ENSG00000122696	ENST00000380590;ENST00000377716;ENST00000242275	T;T;T	0.78003	-1.14;-1.14;-1.14	4.64	1.48	0.22813	Mitochondrial carrier domain (2);	0.837974	0.10442	N	0.674254	T	0.65004	0.2650	L	0.35854	1.095	0.23082	N	0.998326	B	0.06786	0.001	B	0.19148	0.024	T	0.49457	-0.8938	10	0.19147	T	0.46	.	7.4878	0.27443	0.0:0.5669:0.3353:0.0978	.	170	Q9H1U9	MCAR1_HUMAN	V	170	ENSP00000369964:G170V;ENSP00000366945:G170V;ENSP00000242275:G170V	ENSP00000242275:G170V	G	-	2	0	MCART1	37878039	0.010000	0.17322	0.531000	0.27976	0.990000	0.78478	1.130000	0.31393	1.041000	0.40125	0.585000	0.79938	GGA		0.458	SLC25A51-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313746.1	NM_033412		8	77	1	0	0.00307968	0.00308	0.00347347	8	77				
Unknown	0	broad.mit.edu	37	9	66499716	66499716	+	IGR	SNP	A	A	G	rs374942568		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:66499716A>G								RP11-262H14.1 (30406 upstream) : RP11-262H14.7 (17489 downstream)																							CCTGGAGCCCAATCTGCTGGA	0.607																																							uc004aee.1		NA																	0					0						c.(526-528)AAT>GAT		Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																																				SO:0001628	intergenic_variant	442421							g.chr9:66499716A>G																													9.37:g.66499716A>G						LOC442421_uc004aed.1_RNA	p.N176D							1	526	+									Missense_Mutation	SNP		37	c.526A>G																																																																																				0	0.607									5	64	0	0	0	0.00308	0	5	64				
TRPM3	80036	broad.mit.edu	37	9	73225584	73225584	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:73225584G>T	ENST00000377111.2	-	18	2815	c.2572C>A	c.(2572-2574)Ctc>Atc	p.L858I	TRPM3_ENST00000377105.1_Missense_Mutation_p.L717I|TRPM3_ENST00000377106.1_Missense_Mutation_p.L730I|TRPM3_ENST00000377110.3_Missense_Mutation_p.L858I|TRPM3_ENST00000358082.3_Missense_Mutation_p.L720I|TRPM3_ENST00000357533.2_Missense_Mutation_p.L862I|TRPM3_ENST00000396280.5_Missense_Mutation_p.L707I|TRPM3_ENST00000396285.1_Missense_Mutation_p.L705I|TRPM3_ENST00000423814.3_Missense_Mutation_p.L885I|TRPM3_ENST00000360823.2_Missense_Mutation_p.L720I|TRPM3_ENST00000408909.2_Missense_Mutation_p.L717I|TRPM3_ENST00000396292.4_Missense_Mutation_p.L730I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	883					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTTCTGCCGAGGGGGATTAAC	0.473																																							uc004aid.2		NA																	0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(2572-2574)CTC>ATC		transient receptor potential cation channel,							223.0	198.0	206.0					9																	73225584		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73225584G>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2572C>A	9.37:g.73225584G>T	ENSP00000366315:p.Leu858Ile					TRPM3_uc004ahu.2_Missense_Mutation_p.L688I|TRPM3_uc004ahv.2_Missense_Mutation_p.L660I|TRPM3_uc004ahw.2_Missense_Mutation_p.L730I|TRPM3_uc004ahx.2_Missense_Mutation_p.L717I|TRPM3_uc004ahy.2_Missense_Mutation_p.L720I|TRPM3_uc004ahz.2_Missense_Mutation_p.L707I|TRPM3_uc004aia.2_Missense_Mutation_p.L705I|TRPM3_uc004aib.2_Missense_Mutation_p.L695I|TRPM3_uc004aic.2_Missense_Mutation_p.L858I	p.L858I	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			18	2816	-			883			Extracellular (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.2572C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.269|3.269	-0.149458|-0.149458	0.06585|0.06585	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|T	0.68479|0.62788	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33|-0.0	6.17|6.17	3.15|3.15	0.36227|0.36227	.|.	0.164099|.	0.40385|.	N|.	0.001117|.	T|T	0.37839|0.37839	0.1018|0.1018	N|N	0.11201|0.11201	0.11|0.11	0.21841|0.21841	N|N	0.999512|0.999512	B;B;B;B;B;B;B;B|.	0.06786|.	0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B;B;B;B|.	0.10450|.	0.002;0.005;0.003;0.001;0.001;0.001;0.002;0.002|.	T|T	0.32719|0.32719	-0.9896|-0.9896	10|7	0.08179|0.56958	T|D	0.78|0.05	-7.1386|-7.1386	0.7299|0.7299	0.00955|0.00955	0.2209:0.2353:0.3218:0.222|0.2209:0.2353:0.3218:0.222	.|.	858;858;848;862;720;717;830;705|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	I|H	858;858;730;720;717;862;717;705;730;720;885|706	ENSP00000366315:L858I;ENSP00000366314:L858I;ENSP00000366310:L730I;ENSP00000354066:L720I;ENSP00000366309:L717I;ENSP00000350140:L862I;ENSP00000386127:L717I;ENSP00000379581:L705I;ENSP00000379587:L730I;ENSP00000350791:L720I;ENSP00000389542:L885I|ENSP00000379576:P706H	ENSP00000350140:L862I|ENSP00000379576:P706H	L|P	-|-	1|2	0|0	TRPM3|TRPM3	72415404|72415404	0.003000|0.003000	0.15002|0.15002	0.994000|0.994000	0.49952|0.49952	0.993000|0.993000	0.82548|0.82548	-0.022000|-0.022000	0.12480|0.12480	0.377000|0.377000	0.24735|0.24735	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.473	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		14	60	1	0	1.5842e-08	0.001855	2.48276e-08	14	60				
PRUNE2	158471	broad.mit.edu	37	9	79321360	79321360	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:79321360C>T	ENST00000376718.3	-	8	5953	c.5830G>A	c.(5830-5832)Gct>Act	p.A1944T	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A1585T	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1944					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCACCAGCAGCAGACACAAAG	0.493																																							uc010mpk.2		NA																	0					0						c.(5830-5832)GCT>ACT		prune homolog 2							96.0	85.0	89.0					9																	79321360		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79321360C>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5830G>A	9.37:g.79321360C>T	ENSP00000365908:p.Ala1944Thr					PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	p.A1944T	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	5954	-			1944					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.5830G>A	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.486|5.486	0.274729|0.274729	0.10403|0.10403	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.48522|.	0.81;0.81|.	6.04|6.04	-5.19|-5.19	0.02832|0.02832	.|.	0.987832|.	0.08242|.	N|.	0.975899|.	T|T	0.21718|0.21718	0.0523|0.0523	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	B|.	0.15473|.	0.013|.	B|.	0.09377|.	0.004|.	T|T	0.34279|0.34279	-0.9835|-0.9835	10|5	0.25751|.	T|.	0.34|.	0.398|0.398	2.611|2.611	0.04891|0.04891	0.1698:0.4533:0.134:0.2429|0.1698:0.4533:0.134:0.2429	.|.	1944|.	Q8WUY3|.	PRUN2_HUMAN|.	T|Y	1944;1585;1943|1265	ENSP00000365908:A1944T;ENSP00000397425:A1585T|.	ENSP00000365908:A1944T|.	A|C	-|-	1|2	0|0	PRUNE2|PRUNE2	78511180|78511180	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	0.222000|0.222000	0.17699|0.17699	-0.372000|-0.372000	0.07992|0.07992	-0.397000|-0.397000	0.06425|0.06425	GCT|TGC		0.493	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		5	44	0	0	0	0.000602	0	5	44				
KIF27	55582	broad.mit.edu	37	9	86530457	86530457	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:86530457C>A	ENST00000297814.2	-	2	193	c.50G>T	c.(49-51)tGc>tTc	p.C17F	KIF27_ENST00000413982.1_Missense_Mutation_p.C17F|KIF27_ENST00000334204.2_Missense_Mutation_p.C17F	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	17	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AGCTTCTTTGCAAAGCAGAGG	0.333																																							uc004ana.2		NA																	0				lung(4)|skin(1)	5						c.(49-51)TGC>TTC		kinesin family member 27							72.0	73.0	73.0					9																	86530457		2203	4299	6502	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86530457C>A	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.50G>T	9.37:g.86530457C>A	ENSP00000297814:p.Cys17Phe					KIF27_uc010mpw.2_Missense_Mutation_p.C17F|KIF27_uc010mpx.2_Missense_Mutation_p.C17F	p.C17F	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN			2	194	-			17			Kinesin-motor.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.50G>T	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	4.767	0.142669	0.09083	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.74632	-0.86;-0.86;-0.86	4.8	2.82	0.32997	Kinesin, motor domain (4);	0.130764	0.33199	U	0.005174	T	0.54822	0.1882	N	0.11560	0.145	0.36866	D	0.888665	B;B;B	0.24882	0.113;0.098;0.096	B;B;B	0.29942	0.028;0.061;0.109	T	0.58999	-0.7536	10	0.62326	D	0.03	.	8.2899	0.31952	0.0:0.5696:0.3359:0.0945	.	17;17;17	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	F	17	ENSP00000297814:C17F;ENSP00000401688:C17F;ENSP00000333928:C17F	ENSP00000297814:C17F	C	-	2	0	KIF27	85720277	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.190000	0.50973	1.165000	0.42670	-0.143000	0.13931	TGC		0.333	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		10	25	1	0	0.000442599	0.006214	0.000527744	10	25				
NTRK2	4915	broad.mit.edu	37	9	87285783	87285783	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:87285783C>A	ENST00000323115.4	+	1	473	c.120C>A	c.(118-120)gcC>gcA	p.A40A	NTRK2_ENST00000395882.1_Silent_p.A40A|NTRK2_ENST00000359847.3_Silent_p.A40A|NTRK2_ENST00000376213.1_Silent_p.A40A|NTRK2_ENST00000376208.1_Silent_p.A40A|NTRK2_ENST00000304053.6_Silent_p.A40A|NTRK2_ENST00000395866.2_5'Flank|NTRK2_ENST00000277120.3_Silent_p.A40A|NTRK2_ENST00000376214.1_Silent_p.A40A			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	40	LRRNT.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	AATGCAGTGCCTCTCGGATCT	0.597										TSP Lung(25;0.17)																													uc004aoa.1		NA																	0				lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						c.(118-120)GCC>GCA		neurotrophic tyrosine kinase, receptor, type 2							113.0	103.0	107.0					9																	87285783		2203	4300	6503	SO:0001819	synonymous_variant	4915				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity	g.chr9:87285783C>A	AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.120C>A	9.37:g.87285783C>A		TSP Lung(25;0.17)				NTRK2_uc004anv.1_Silent_p.A40A|NTRK2_uc004any.1_Silent_p.A40A|NTRK2_uc004anz.1_Silent_p.A40A|NTRK2_uc011lsz.1_Silent_p.A40A|NTRK2_uc011lta.1_Silent_p.A40A|NTRK2_uc004aob.1_Silent_p.A40A|NTRK2_uc011ltb.1_5'Flank	p.A40A	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN			4	1058	+			40			Extracellular (Potential).|LRRNT.		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Silent	SNP	ENST00000323115.4	37	c.120C>A	CCDS35050.1																																																																																				0.597	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			18	38	1	0	6.94344e-10	0.006122	1.14012e-09	18	38				
AGTPBP1	23287	broad.mit.edu	37	9	88236124	88236124	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:88236124T>C	ENST00000357081.3	-	15	2236	c.2092A>G	c.(2092-2094)Aac>Gac	p.N698D	AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.N710D|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.N658D|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.N536D			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	698					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TACTTTGGGTTATCCAAGTCA	0.259																																							uc011ltd.1		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(2092-2094)AAC>GAC		ATP/GTP binding protein 1							64.0	61.0	62.0					9																	88236124		2200	4281	6481	SO:0001583	missense	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88236124T>C	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.2092A>G	9.37:g.88236124T>C	ENSP00000349592:p.Asn698Asp					AGTPBP1_uc004aod.3_Missense_Mutation_p.N324D|AGTPBP1_uc011ltc.1_Missense_Mutation_p.N596D|AGTPBP1_uc010mqc.2_Missense_Mutation_p.N658D|AGTPBP1_uc011lte.1_Missense_Mutation_p.N710D	p.N698D	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN			14	2125	-			698					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Missense_Mutation	SNP	ENST00000357081.3	37	c.2092A>G		.	.	.	.	.	.	.	.	.	.	T	13.71	2.316939	0.40996	.	.	ENSG00000135049	ENST00000357081;ENST00000376083;ENST00000376109;ENST00000432218	T;T;T;T	0.45276	2.22;2.22;2.2;0.9	5.54	5.54	0.83059	.	0.043638	0.85682	D	0.000000	T	0.47002	0.1422	L	0.31294	0.92	0.80722	D	1	B;B;D;B	0.64830	0.059;0.057;0.994;0.059	B;B;P;B	0.59221	0.039;0.032;0.854;0.039	T	0.29212	-1.0019	10	0.21014	T	0.42	-22.8779	15.6736	0.77297	0.0:0.0:0.0:1.0	.	710;698;536;658	Q9UPW5-3;Q9UPW5;B4DHX2;Q9UPW5-2	.;CBPC1_HUMAN;.;.	D	698;658;710;536	ENSP00000349592:N698D;ENSP00000365251:N658D;ENSP00000365277:N710D;ENSP00000402804:N536D	ENSP00000349592:N698D	N	-	1	0	AGTPBP1	87425944	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.225000	0.42954	2.103000	0.63969	0.455000	0.32223	AAC		0.259	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		14	26	0	0	0	0.00245	0	14	26				
OMD	4958	broad.mit.edu	37	9	95178974	95178974	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:95178974G>T	ENST00000375550.4	-	2	1142	c.867C>A	c.(865-867)caC>caA	p.H289Q	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	289					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TCAATTTGTTGTGTCCAACAC	0.303			T	USP6	aneurysmal bone cysts																																		uc004asd.3		NA		Dom	yes		9	9q22.31	4958	T	osteomodulin			M	USP6		aneurysmal bone cysts		0				ovary(2)	2						c.(865-867)CAC>CAA		osteomodulin precursor							70.0	73.0	72.0					9																	95178974		2201	4295	6496	SO:0001583	missense	4958				cell adhesion	proteinaceous extracellular matrix		g.chr9:95178974G>T	AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.867C>A	9.37:g.95178974G>T	ENSP00000364700:p.His289Gln					CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron	p.H289Q	NM_005014	NP_005005	Q99983	OMD_HUMAN			2	1236	-			289			LRR 9.		Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	c.867C>A	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	g	15.92	2.974947	0.53720	.	.	ENSG00000127083	ENST00000375550	T	0.58652	0.32	5.46	2.51	0.30379	.	0.000000	0.64402	D	0.000001	T	0.67040	0.2851	L	0.48986	1.54	0.41806	D	0.989947	D	0.89917	1.0	D	0.85130	0.997	T	0.67906	-0.5549	10	0.87932	D	0	-19.0861	9.7046	0.40207	0.3538:0.0:0.6462:0.0	.	289	Q99983	OMD_HUMAN	Q	289	ENSP00000364700:H289Q	ENSP00000364700:H289Q	H	-	3	2	OMD	94218795	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.118000	0.31246	0.754000	0.32968	0.650000	0.86243	CAC		0.303	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014		10	35	1	0	7.48243e-07	0.006214	1.07248e-06	10	35				
C9orf3	84909	broad.mit.edu	37	9	97522328	97522328	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:97522328G>A	ENST00000375315.2	+	1	263	c.263G>A	c.(262-264)aGg>aAg	p.R88K	C9orf3_ENST00000277198.2_Missense_Mutation_p.R88K|C9orf3_ENST00000297979.5_Missense_Mutation_p.R88K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	88					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		ACAAATGCAAGGACCTTCTCA	0.393																																							uc004ava.2		NA																	0				ovary(1)	1						c.(262-264)AGG>AAG		aminopeptidase O							103.0	105.0	105.0					9																	97522328		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97522328G>A	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.263G>A	9.37:g.97522328G>A	ENSP00000364464:p.Arg88Lys					C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Missense_Mutation_p.R88K|C9orf3_uc004auy.2_Missense_Mutation_p.R88K|C9orf3_uc004auz.1_Missense_Mutation_p.R88K	p.R88K	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	1	398	+			88					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.263G>A	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	G	0.534	-0.856428	0.02630	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315	T;T;T	0.10960	2.82;2.82;3.01	4.88	-0.412	0.12367	.	0.932291	0.09209	N	0.833526	T	0.05686	0.0149	N	0.21448	0.665	0.54753	D	0.999983	B;B;B;B	0.10296	0.0;0.003;0.001;0.0	B;B;B;B	0.08055	0.001;0.003;0.001;0.001	T	0.40098	-0.9581	10	0.13470	T	0.59	0.2002	3.4452	0.07478	0.1992:0.116:0.565:0.1198	.	88;88;88;88	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	K	88	ENSP00000277198:R88K;ENSP00000297979:R88K;ENSP00000364464:R88K	ENSP00000277198:R88K	R	+	2	0	C9orf3	96562149	1.000000	0.71417	0.044000	0.18714	0.594000	0.36715	3.373000	0.52394	-0.153000	0.11137	-0.217000	0.12591	AGG		0.393	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		21	47	0	0	0	0.012319	0	21	47				
GRIN3A	116443	broad.mit.edu	37	9	104433161	104433161	+	Silent	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:104433161A>G	ENST00000361820.3	-	3	2133	c.1533T>C	c.(1531-1533)agT>agC	p.S511S		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	511					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AGTGTAGCTTACTTGGATGTT	0.522																																							uc004bbp.1		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(1531-1533)AGT>AGC		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)						213.0	188.0	196.0					9																	104433161		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.chr9:104433161A>G		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.1533T>C	9.37:g.104433161A>G						GRIN3A_uc004bbq.1_Silent_p.S511S	p.S511S	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			3	2134	-		Acute lymphoblastic leukemia(62;0.0568)	511			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	ENST00000361820.3	37	c.1533T>C	CCDS6758.1																																																																																				0.522	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			25	50	0	0	0	0.003954	0	25	50				
SVEP1	79987	broad.mit.edu	37	9	113169798	113169798	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:113169798G>T	ENST00000401783.2	-	38	8418	c.8082C>A	c.(8080-8082)aaC>aaA	p.N2694K	SVEP1_ENST00000374469.1_Missense_Mutation_p.N2671K|SVEP1_ENST00000297826.5_Missense_Mutation_p.N620K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2694	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCAGCACAGGGTTCCCCAGAA	0.443																																							uc010mtz.2		NA																	0				ovary(7)	7						c.(8080-8082)AAC>AAA		polydom							165.0	160.0	162.0					9																	113169798		1909	4150	6059	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113169798G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8082C>A	9.37:g.113169798G>T	ENSP00000384917:p.Asn2694Lys					SVEP1_uc010mty.2_Missense_Mutation_p.N620K	p.N2694K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			38	8419	-			2694			Sushi 21.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.8082C>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	1.137	-0.650753	0.03506	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.64085	-0.08;-0.08;-0.08	5.77	1.28	0.21552	Complement control module (2);Sushi/SCR/CCP (3);	0.393761	0.32068	N	0.006627	T	0.45196	0.1330	L	0.46157	1.445	0.19300	N	0.999979	B	0.24317	0.101	B	0.25506	0.061	T	0.21965	-1.0230	10	0.09338	T	0.73	.	5.3378	0.15967	0.307:0.2663:0.4267:0.0	.	2694	Q4LDE5	SVEP1_HUMAN	K	2694;2671;620;366	ENSP00000384917:N2694K;ENSP00000363593:N2671K;ENSP00000297826:N620K	ENSP00000297826:N620K	N	-	3	2	SVEP1	112209619	0.845000	0.29573	0.779000	0.31741	0.971000	0.66376	0.297000	0.19101	0.347000	0.23924	0.585000	0.79938	AAC		0.443	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				7	114	1	0	0.00198382	0.001984	0.00225226	7	114				
PHF19	26147	broad.mit.edu	37	9	123628067	123628067	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:123628067T>A	ENST00000373896.3	-	9	1073	c.821A>T	c.(820-822)cAg>cTg	p.Q274L	PHF19_ENST00000419155.1_Missense_Mutation_p.Q65L|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	274					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCTTGCTCTGTACCCCCAG	0.572																																							uc004bks.1		NA																	0				ovary(1)|breast(1)	2						c.(820-822)CAG>CTG		PHD finger protein 19 isoform a							125.0	127.0	126.0					9																	123628067		2203	4300	6503	SO:0001583	missense	26147				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr9:123628067T>A	BX640713	CCDS35116.1, CCDS35117.1, CCDS69648.1, CCDS75889.1	9q34.11	2013-01-28			ENSG00000119403	ENSG00000119403		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24566	protein-coding gene	gene with protein product	"""polycomb-like 3"", ""tudor domain containing 19B"""	609740				15563832	Standard	XM_005251906		Approved	DKFZP727G051, PCL3, MTF2L1, TDRD19B	uc004bks.1	Q5T6S3	OTTHUMG00000020577	ENST00000373896.3:c.821A>T	9.37:g.123628067T>A	ENSP00000363003:p.Gln274Leu					PHF19_uc011lyf.1_Missense_Mutation_p.Q65L|PHF19_uc004bkr.2_RNA	p.Q274L	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN			9	1074	-			274					Q32NF2|Q5T6S4|Q6N038|Q8TBL6|Q9UFS9	Missense_Mutation	SNP	ENST00000373896.3	37	c.821A>T	CCDS35116.1	.	.	.	.	.	.	.	.	.	.	T	9.351	1.065541	0.20067	.	.	ENSG00000119403	ENST00000544082;ENST00000373896;ENST00000419155;ENST00000453868	T;T;T	0.45668	1.92;0.9;0.89	4.85	4.85	0.62838	.	0.439871	0.25040	N	0.033608	T	0.26882	0.0658	L	0.28458	0.855	0.42541	D	0.993073	B	0.02656	0.0	B	0.04013	0.001	T	0.08764	-1.0706	10	0.11485	T	0.65	-15.0644	8.7941	0.34868	0.1683:0.0:0.0:0.8317	.	274	Q5T6S3	PHF19_HUMAN	L	274;274;65;65	ENSP00000363003:Q274L;ENSP00000407433:Q65L;ENSP00000395938:Q65L	ENSP00000363003:Q274L	Q	-	2	0	PHF19	122667888	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.063000	0.41423	1.820000	0.53075	0.454000	0.30748	CAG		0.572	PHF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053838.3	XM_045308		27	54	0	0	0	0.007291	0	27	54				
LMX1B	4010	broad.mit.edu	37	9	129453247	129453247	+	Silent	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:129453247C>T	ENST00000373474.4	+	3	466	c.459C>T	c.(457-459)ggC>ggT	p.G153G	LMX1B_ENST00000526117.1_Silent_p.G153G|LMX1B_ENST00000425646.2_Silent_p.G130G|LMX1B_ENST00000561065.1_Silent_p.G130G|LMX1B_ENST00000355497.5_Silent_p.G153G			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	153	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						TACGCAAGGGCGACGAATTCG	0.632									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	Pancreas(110;1796 2278 18357 20466)	uc004bqj.2		NA																	0					0						c.(388-390)GGC>GGT		LIM homeobox transcription factor 1, beta							85.0	64.0	71.0					9																	129453247		2203	4300	6503	SO:0001819	synonymous_variant	4010	Nail-Patella_Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129453247C>T	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.459C>T	9.37:g.129453247C>T						LMX1B_uc004bqi.2_Silent_p.G130G|LMX1B_uc011maa.1_Silent_p.G130G	p.G130G	NM_002316	NP_002307	O60663	LMX1B_HUMAN			3	440	+			130			LIM zinc-binding 2.		F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	ENST00000373474.4	37	c.390C>T	CCDS55342.1																																																																																				0.632	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			5	16	0	0	0	0.000602	0	5	16				
RAPGEF1	2889	broad.mit.edu	37	9	134526329	134526329	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:134526329C>A	ENST00000372189.3	-	2	141	c.18G>T	c.(16-18)caG>caT	p.Q6H	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.Q24H|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.Q23H	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	6					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GATGAGAACGCTGAGAGTCTG	0.463																																							uc004cbc.2		NA																	0				lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(16-18)CAG>CAT		guanine nucleotide-releasing factor 2 isoform a							146.0	136.0	139.0					9																	134526329		1947	4162	6109	SO:0001583	missense	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134526329C>A	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.18G>T	9.37:g.134526329C>A	ENSP00000361263:p.Gln6His					RAPGEF1_uc004cbb.2_Missense_Mutation_p.Q24H|RAPGEF1_uc010mzn.2_Missense_Mutation_p.Q11H|RAPGEF1_uc004cbd.2_Missense_Mutation_p.Q11H	p.Q6H	NM_005312	NP_005303	Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	2	148	-		Myeloproliferative disorder(178;0.204)	6					Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	c.18G>T	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111221	0.77210	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000357686;ENST00000438647;ENST00000427994	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.52	5.52	0.82312	.	0.262488	0.30347	N	0.009827	T	0.59622	0.2207	L	0.59436	1.845	0.49687	D	0.999816	P;P;D	0.53312	0.863;0.93;0.959	P;P;P	0.59424	0.553;0.723;0.857	T	0.61554	-0.7039	10	0.87932	D	0	.	18.4444	0.90678	0.0:1.0:0.0:0.0	.	23;6;24	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	H	6;23;6;24;24;23;23;24	ENSP00000361269:Q23H;ENSP00000361263:Q6H;ENSP00000361264:Q24H;ENSP00000410640:Q23H;ENSP00000402174:Q24H	ENSP00000266110:Q6H	Q	-	3	2	RAPGEF1	133516150	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.854000	0.48325	2.585000	0.87301	0.655000	0.94253	CAG		0.463	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		15	34	1	0	0.000219431	0.00245	0.000269587	15	34				
DBH	1621	broad.mit.edu	37	9	136501746	136501746	+	Missense_Mutation	SNP	G	G	T	rs78445536	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr9:136501746G>T	ENST00000393056.2	+	1	265	c.253G>T	c.(253-255)Gtc>Ttc	p.V85F		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	85	DOMON. {ECO:0000255|PROSITE- ProRule:PRU00246}.				behavioral response to ethanol (GO:0048149)|blood vessel remodeling (GO:0001974)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine production (GO:0001816)|dopamine catabolic process (GO:0042420)|fear response (GO:0042596)|glucose homeostasis (GO:0042593)|homoiothermy (GO:0042309)|leukocyte mediated immunity (GO:0002443)|leukocyte migration (GO:0050900)|locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|memory (GO:0007613)|norepinephrine biosynthetic process (GO:0042421)|positive regulation of vasoconstriction (GO:0045907)|regulation of cell proliferation (GO:0042127)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|response to amphetamine (GO:0001975)|response to pain (GO:0048265)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	catalytic activity (GO:0003824)|copper ion binding (GO:0005507)|dopamine beta-monooxygenase activity (GO:0004500)|L-ascorbic acid binding (GO:0031418)			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Disulfiram(DB00822)|Dopamine(DB00988)|Propylthiouracil(DB00550)|Vitamin C(DB00126)	CAAGGCTGGCGTCCTGTTTGG	0.617																																							uc004cel.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(253-255)GTC>TTC		dopamine beta hydroxylase precursor	Dopamine(DB00988)|Vitamin C(DB00126)						82.0	60.0	67.0					9																	136501746		2203	4300	6503	SO:0001583	missense	1621				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	g.chr9:136501746G>T	X13256	CCDS6977.2	9q34	2013-06-03			ENSG00000123454	ENSG00000123454	1.14.17.1		2689	protein-coding gene	gene with protein product		609312					Standard	NM_000787		Approved	DBM	uc004cel.3	P09172	OTTHUMG00000020878	ENST00000393056.2:c.253G>T	9.37:g.136501746G>T	ENSP00000376776:p.Val85Phe						p.V85F	NM_000787	NP_000778	P09172	DOPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	1	262	+			85			DOMON.|Intragranular (Potential).		Q5T381|Q96AG2	Missense_Mutation	SNP	ENST00000393056.2	37	c.253G>T	CCDS6977.2	.	.	.	.	.	.	.	.	.	.	G	1.383	-0.582913	0.03827	.	.	ENSG00000123454	ENST00000393056;ENST00000371880;ENST00000263611	T;T	0.80393	-1.37;-1.37	5.24	2.31	0.28768	DOMON domain (3);	0.266224	0.37906	N	0.001895	T	0.72137	0.3423	L	0.50333	1.59	0.45284	D	0.998282	B	0.14012	0.009	B	0.20384	0.029	T	0.59888	-0.7369	10	0.12103	T	0.63	-3.7892	11.7425	0.51801	0.077:0.5785:0.3445:0.0	.	85	P09172	DOPO_HUMAN	F	85;71;71	ENSP00000376776:V85F;ENSP00000263611:V71F	ENSP00000263611:V71F	V	+	1	0	DBH	135491567	0.738000	0.28186	0.178000	0.23040	0.071000	0.16799	0.687000	0.25407	0.188000	0.20168	-0.311000	0.09066	GTC		0.617	DBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054929.2	NM_000787		3	10	1	0	0.004672	0.004672	0.00515945	3	10				
PPP2R3B	28227	broad.mit.edu	37	X	299548	299548	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:299548C>A	ENST00000390665.3	-	11	1453	c.1435G>T	c.(1435-1437)Gac>Tac	p.D479Y		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	479					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		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)				TGCTCGTGGTCGAGGTACTTC	0.632																																							uc004cpg.2		NA																	0					0						c.(1435-1437)GAC>TAC		protein phosphatase 2, regulatory subunit B'',							188.0	182.0	184.0					X																	299548		2195	4288	6483	SO:0001583	missense	28227				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chrX:299548C>A	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1435G>T	X.37:g.299548C>A	ENSP00000375080:p.Asp479Tyr					PPP2R3B_uc004cpf.2_Missense_Mutation_p.D80Y	p.D479Y	NM_013239	NP_037371	Q9Y5P8	P2R3B_HUMAN			11	1636	-		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)	479					Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	ENST00000390665.3	37	c.1435G>T	CCDS14104.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205463	0.39003	.	.	ENSG00000167393	ENST00000390665	T	0.44482	0.92	2.04	2.04	0.26737	.	0.134421	0.47852	U	0.000208	T	0.47377	0.1442	M	0.81341	2.54	0.09310	N	0.999999	P	0.48834	0.916	P	0.44732	0.459	T	0.48948	-0.8989	10	0.87932	D	0	.	11.0195	0.47709	0.0:1.0:0.0:0.0	.	479	Q9Y5P8	P2R3B_HUMAN	Y	479	ENSP00000375080:D479Y	ENSP00000375080:D479Y	D	-	1	0	PPP2R3B	219548	1.000000	0.71417	0.243000	0.24186	0.109000	0.19521	4.187000	0.58344	0.602000	0.29896	0.409000	0.27619	GAC		0.632	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		16	42	1	0	2.32078e-09	0.003163	3.69606e-09	16	42				
MXRA5	25878	broad.mit.edu	37	X	3228008	3228008	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:3228008G>C	ENST00000217939.6	-	7	8390	c.8236C>G	c.(8236-8238)Cgg>Ggg	p.R2746G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2746	Ig-like C2-type 12.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTCCCGGGCCGGGTGTAGATG	0.597																																							uc004crg.3		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(8236-8238)CGG>GGG		adlican precursor							66.0	57.0	60.0					X																	3228008		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3228008G>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.8236C>G	X.37:g.3228008G>C	ENSP00000217939:p.Arg2746Gly						p.R2746G	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			7	8393	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2746			Ig-like C2-type 12.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.8236C>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353225	0.24512	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.67698	-0.28	4.32	3.44	0.39384	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37095	U	0.002251	T	0.78310	0.4263	M	0.70842	2.15	0.19945	N	0.999945	D	0.89917	1.0	D	0.83275	0.996	T	0.68655	-0.5351	10	0.49607	T	0.09	.	10.8262	0.46633	0.0:0.0:0.4473:0.5527	.	2746	Q9NR99	MXRA5_HUMAN	G	2746	ENSP00000217939:R2746G	ENSP00000217939:R2746G	R	-	1	2	MXRA5	3238008	1.000000	0.71417	0.002000	0.10522	0.018000	0.09664	3.339000	0.52135	0.644000	0.30656	0.502000	0.49764	CGG		0.597	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		23	47	0	0	0	0.014323	0	23	47				
GLRA2	2742	broad.mit.edu	37	X	14548215	14548215	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:14548215G>T	ENST00000218075.4	+	1	566	c.36G>T	c.(34-36)ttG>ttT	p.L12F	GLRA2_ENST00000355020.4_Missense_Mutation_p.L12F|GLRA2_ENST00000443437.2_5'UTR	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	12					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	TGACAGCCTTGTTTGCATTTT	0.368																																							uc010nep.2		NA																	0				ovary(1)|lung(1)	2						c.(34-36)TTG>TTT		glycine receptor, alpha 2 isoform A	Ethanol(DB00898)|Glycine(DB00145)						134.0	116.0	122.0					X																	14548215		2203	4300	6503	SO:0001583	missense	2742				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:14548215G>T		CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.36G>T	X.37:g.14548215G>T	ENSP00000218075:p.Leu12Phe					GLRA2_uc010neq.2_Missense_Mutation_p.L12F|GLRA2_uc004cwe.3_Missense_Mutation_p.L12F|GLRA2_uc011mio.1_5'UTR|GLRA2_uc011mip.1_5'Flank	p.L12F	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN			2	368	+	Hepatocellular(33;0.128)		12					A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	ENST00000218075.4	37	c.36G>T	CCDS14160.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219236	0.39201	.	.	ENSG00000101958	ENST00000218075;ENST00000355020	D;D	0.81659	-1.52;-1.52	5.47	4.54	0.55810	.	0.120355	0.37955	N	0.001869	T	0.72692	0.3492	N	0.08118	0	0.80722	D	1	D;P	0.58970	0.984;0.815	P;B	0.59595	0.86;0.221	T	0.74819	-0.3535	10	0.72032	D	0.01	.	5.5475	0.17071	0.1673:0.0:0.6656:0.1671	.	12;12	P23416;P23416-2	GLRA2_HUMAN;.	F	12	ENSP00000218075:L12F;ENSP00000347123:L12F	ENSP00000218075:L12F	L	+	3	2	GLRA2	14458136	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.470000	0.45119	2.430000	0.82344	0.544000	0.68410	TTG		0.368	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055829.1			11	51	1	0	4.36969e-10	0.001855	7.20947e-10	11	51				
ASB11	140456	broad.mit.edu	37	X	15320871	15320871	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:15320871G>T	ENST00000480796.1	-	2	290	c.240C>A	c.(238-240)gcC>gcA	p.A80A	ASB11_ENST00000344384.4_Silent_p.A59A|ASB11_ENST00000537676.1_Silent_p.A59A|ASB11_ENST00000380470.3_Silent_p.A80A			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	80					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					AAGTTTTAAGGGCCAGTAAGC	0.433																																							uc004cwp.1		NA																	0				breast(2)|skin(1)	3						c.(238-240)GCC>GCA		ankyrin repeat and SOCS box-containing protein							87.0	78.0	81.0					X																	15320871		2203	4300	6503	SO:0001819	synonymous_variant	140456				intracellular signal transduction			g.chrX:15320871G>T	AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"""Ankyrin repeat domain containing"""	17186	protein-coding gene	gene with protein product		300626	"""ankyrin repeat and SOCS box-containing 11"", ""ankyrin repeat and SOCS box containing 11"""			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.240C>A	X.37:g.15320871G>T						ASB11_uc004cwo.1_Silent_p.A59A|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Silent_p.A80A	p.A80A	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN			2	240	-	Hepatocellular(33;0.183)		80			ANK 1.		E9PEN1|Q3SYC4|Q7Z667	Silent	SNP	ENST00000480796.1	37	c.240C>A	CCDS14164.1																																																																																				0.433	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2			7	37	1	0	8.12818e-05	0.001984	0.000102047	7	37				
RBBP7	5931	broad.mit.edu	37	X	16870189	16870189	+	Silent	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:16870189G>T	ENST00000380087.2	-	9	1380	c.1020C>A	c.(1018-1020)cgC>cgA	p.R340R	RBBP7_ENST00000380084.4_Silent_p.R384R|RBBP7_ENST00000404022.1_Silent_p.R331R			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	340					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					ACACATTCAGGCGGCGGTCAG	0.383																																							uc004cxt.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1018-1020)CGC>CGA		retinoblastoma binding protein 7							227.0	194.0	205.0					X																	16870189		2203	4300	6503	SO:0001819	synonymous_variant	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16870189G>T	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.1020C>A	X.37:g.16870189G>T						RBBP7_uc004cxs.1_Silent_p.R384R|RBBP7_uc004cxu.2_Silent_p.R331R	p.R340R	NM_002893	NP_002884	Q16576	RBBP7_HUMAN			9	1378	-	Hepatocellular(33;0.0997)		340			WD 6.		Q5JP00	Silent	SNP	ENST00000380087.2	37	c.1020C>A	CCDS14179.1																																																																																				0.383	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		46	120	1	0	1.46357e-32	0.01441	2.93568e-32	46	120				
BEND2	139105	broad.mit.edu	37	X	18194204	18194204	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:18194204G>T	ENST00000380033.4	-	11	1772	c.1640C>A	c.(1639-1641)gCa>gAa	p.A547E	BEND2_ENST00000380030.3_Missense_Mutation_p.A456E	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	547	BEN 1. {ECO:0000255|PROSITE- ProRule:PRU00784}.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AAAAGTTGTTGCCAGATATTC	0.323																																							uc004cyj.3		NA																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(1639-1641)GCA>GAA		BEN domain containing 2							72.0	63.0	66.0					X																	18194204		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18194204G>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1640C>A	X.37:g.18194204G>T	ENSP00000369372:p.Ala547Glu					BEND2_uc010nfb.2_Missense_Mutation_p.A456E	p.A547E	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			11	1794	-			547			BEN 1.		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.1640C>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973394	0.34848	.	.	ENSG00000177324	ENST00000380033;ENST00000380030	T;T	0.38722	1.12;1.12	5.5	1.53	0.23141	BEN domain (2);	0.380726	0.23413	N	0.048458	T	0.52403	0.1732	M	0.65975	2.015	0.09310	N	1	D;D	0.57899	0.981;0.981	P;P	0.60236	0.871;0.871	T	0.43245	-0.9403	10	0.48119	T	0.1	-6.6641	7.7641	0.28970	0.0792:0.0:0.3756:0.5452	.	456;547	E9PFY2;Q8NDZ0	.;BEND2_HUMAN	E	547;456	ENSP00000369372:A547E;ENSP00000369369:A456E	ENSP00000369369:A456E	A	-	2	0	BEND2	18104125	0.005000	0.15991	0.016000	0.15963	0.414000	0.31173	0.255000	0.18333	-0.133000	0.11537	0.600000	0.82982	GCA		0.323	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		10	32	1	0	3.07112e-06	0.010729	4.26854e-06	10	32				
PPEF1	5475	broad.mit.edu	37	X	18822024	18822024	+	Silent	SNP	G	G	T	rs372792970		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:18822024G>T	ENST00000361511.4	+	14	1574	c.1080G>T	c.(1078-1080)ctG>ctT	p.L360L	PPEF1_ENST00000359763.6_Silent_p.L307L|PPEF1_ENST00000544635.1_Silent_p.L295L|PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000349874.5_Intron	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	360	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TTGATATTCTGTGGAGTGATC	0.373																																							uc004cyq.2		NA																	0					0						c.(1078-1080)CTG>CTT		protein phosphatase with EF hand calcium-binding							128.0	115.0	119.0					X																	18822024		2203	4300	6503	SO:0001819	synonymous_variant	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18822024G>T	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1080G>T	X.37:g.18822024G>T						PPEF1_uc004cyp.2_Silent_p.L332L|PPEF1_uc004cyr.2_Intron|PPEF1_uc004cys.2_Silent_p.L360L|PPEF1_uc011mja.1_Silent_p.L295L|PPEF1_uc011mjb.1_Silent_p.L304L	p.L360L	NM_006240	NP_006231	O14829	PPE1_HUMAN			14	1561	+	Hepatocellular(33;0.183)		360			Catalytic.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Silent	SNP	ENST00000361511.4	37	c.1080G>T	CCDS14188.1																																																																																				0.373	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240		29	57	1	0	3.90053e-15	0.012213	7.29229e-15	29	57				
MAP3K15	389840	broad.mit.edu	37	X	19387328	19387328	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:19387328G>C	ENST00000338883.4	-	25	3409	c.3410C>G	c.(3409-3411)gCc>gGc	p.A1137G	MAP3K15_ENST00000359173.3_Missense_Mutation_p.A572G|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.A969G	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1137							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTCAAAGTGGGCTCGGAGCTC	0.597																																							uc004czk.1		NA																	0				ovary(3)|lung(2)|stomach(1)|skin(1)	7						c.(1834-1836)GCC>GGC		mitogen-activated protein kinase kinase kinase							66.0	59.0	62.0					X																	19387328		2203	4300	6503	SO:0001583	missense	389840						ATP binding|MAP kinase kinase kinase activity|metal ion binding	g.chrX:19387328G>C	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3410C>G	X.37:g.19387328G>C	ENSP00000345629:p.Ala1137Gly					MAP3K15_uc004czj.1_Missense_Mutation_p.A572G|MAP3K15_uc004czi.1_Missense_Mutation_p.A71G	p.A612G	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN			26	3472	-	Hepatocellular(33;0.183)		1137					A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	ENST00000338883.4	37	c.1835C>G		.	.	.	.	.	.	.	.	.	.	G	11.47	1.647136	0.29246	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	T;T;T	0.74209	-0.77;-0.82;-0.77	5.34	3.41	0.39046	.	0.214863	0.48767	D	0.000169	T	0.68100	0.2964	L	0.52126	1.63	0.22989	N	0.99847	B;B	0.21606	0.016;0.058	B;B	0.19666	0.026;0.022	T	0.57670	-0.7771	10	0.33940	T	0.23	.	14.3637	0.66789	0.0:0.2734:0.7266:0.0	.	612;1137	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	G	1137;572;969	ENSP00000345629:A1137G;ENSP00000352093:A572G;ENSP00000428356:A969G	ENSP00000345629:A1137G	A	-	2	0	MAP3K15	19297249	1.000000	0.71417	0.043000	0.18650	0.662000	0.39071	6.153000	0.71819	1.003000	0.39130	0.506000	0.49869	GCC		0.597	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671		11	43	0	0	0	0.001855	0	11	43				
FAM47A	158724	broad.mit.edu	37	X	34149660	34149660	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:34149660G>T	ENST00000346193.3	-	1	787	c.736C>A	c.(736-738)Cat>Aat	p.H246N		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	246	Pro-rich.							p.L235_H246delLRPEPPETGVSH(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGGCGGATATGGGACACTCCA	0.642																																							uc004ddg.2		NA																	1	Deletion - In frame(1)		ovary(1)	ovary(4)|central_nervous_system(1)	5						c.(736-738)CAT>AAT		hypothetical protein LOC158724							31.0	33.0	32.0					X																	34149660		2200	4297	6497	SO:0001583	missense	158724							g.chrX:34149660G>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.736C>A	X.37:g.34149660G>T	ENSP00000345029:p.His246Asn						p.H246N	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	769	-			246			Pro-rich.		A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.736C>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	G	1.505	-0.550956	0.03996	.	.	ENSG00000185448	ENST00000346193	T	0.18960	2.18	0.158	0.158	0.14942	.	.	.	.	.	T	0.15609	0.0376	L	0.52573	1.65	0.09310	N	1	P	0.45594	0.862	B	0.40009	0.316	T	0.20638	-1.0269	8	0.16896	T	0.51	.	.	.	.	.	246	Q5JRC9	FA47A_HUMAN	N	246	ENSP00000345029:H246N	ENSP00000345029:H246N	H	-	1	0	FAM47A	34059581	0.002000	0.14202	0.010000	0.14722	0.010000	0.07245	-0.450000	0.06803	0.187000	0.20147	0.190000	0.17370	CAT		0.642	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		6	39	1	0	8.12818e-05	0.001984	0.000102047	6	39				
BCOR	54880	broad.mit.edu	37	X	39934249	39934249	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:39934249T>A	ENST00000378444.4	-	4	578	c.350A>T	c.(349-351)gAa>gTa	p.E117V	BCOR_ENST00000378455.4_Missense_Mutation_p.E117V|BCOR_ENST00000397354.3_Missense_Mutation_p.E117V|BCOR_ENST00000342274.4_Missense_Mutation_p.E117V	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	117					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGATTTCTTTCCGAAGAAAA	0.512			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																uc004den.3		NA		Rec	yes		X	Xp11.4	54880		BCL6 corepressor	yes							0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(349-351)GAA>GTA		BCL-6 interacting corepressor isoform c							62.0	58.0	59.0					X																	39934249		2202	4300	6502	SO:0001583	missense	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39934249T>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.350A>T	X.37:g.39934249T>A	ENSP00000367705:p.Glu117Val					BCOR_uc004dep.3_Missense_Mutation_p.E117V|BCOR_uc004deo.3_Missense_Mutation_p.E117V|BCOR_uc004dem.3_Missense_Mutation_p.E117V|BCOR_uc004deq.3_Missense_Mutation_p.E117V	p.E117V	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			4	642	-			117					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	ENST00000378444.4	37	c.350A>T	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	t	17.73	3.461961	0.63513	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.46	5.46	0.80206	.	.	.	.	.	T	0.71753	0.3377	N	0.24115	0.695	0.41623	D	0.988975	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.996;0.998	T	0.76550	-0.2918	9	0.87932	D	0	-22.5114	14.5664	0.68179	0.0:0.0:0.0:1.0	.	117;117;117;117	Q6W2J9-3;Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;.;BCOR_HUMAN;.	V	117	ENSP00000367716:E117V;ENSP00000380512:E117V;ENSP00000367705:E117V;ENSP00000345923:E117V;ENSP00000384485:E117V	ENSP00000345923:E117V	E	-	2	0	BCOR	39819193	1.000000	0.71417	0.136000	0.22124	0.969000	0.65631	7.633000	0.83260	1.820000	0.53075	0.483000	0.47432	GAA		0.512	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745		8	49	0	0	0	0.004482	0	8	49				
GDPD2	54857	broad.mit.edu	37	X	69647065	69647065	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:69647065G>T	ENST00000374382.3	+	9	1032	c.781G>T	c.(781-783)Gtc>Ttc	p.V261F	GDPD2_ENST00000453994.2_Missense_Mutation_p.V261F|GDPD2_ENST00000536730.1_Missense_Mutation_p.V182F|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Missense_Mutation_p.V182F	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	261	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					TGATGTGATGGTCAGGTGAGG	0.582																																							uc004dyh.2		NA																	0				ovary(2)	2						c.(781-783)GTC>TTC		osteoblast differentiation promoting factor							89.0	73.0	79.0					X																	69647065		2203	4300	6503	SO:0001583	missense	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69647065G>T	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.781G>T	X.37:g.69647065G>T	ENSP00000363503:p.Val261Phe					GDPD2_uc010nkx.1_Missense_Mutation_p.V261F|GDPD2_uc010nky.1_Missense_Mutation_p.V47F|GDPD2_uc011mpk.1_Missense_Mutation_p.V261F|GDPD2_uc011mpl.1_Missense_Mutation_p.V182F|GDPD2_uc011mpm.1_Missense_Mutation_p.V182F	p.V261F	NM_017711	NP_060181	Q9HCC8	GDPD2_HUMAN			9	1032	+	Renal(35;0.156)		261			GDPD.|Extracellular (Potential).		B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	c.781G>T	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031009	0.35797	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.35	1.71	0.24356	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.430536	0.23530	N	0.047186	T	0.38026	0.1025	L	0.42245	1.32	0.36693	D	0.879681	P;P;B;P	0.45986	0.782;0.87;0.221;0.845	P;P;B;P	0.52957	0.577;0.561;0.285;0.714	T	0.28332	-1.0047	9	.	.	.	-7.3633	8.1239	0.30986	0.419:0.0:0.581:0.0	.	261;47;182;261	B4DVC9;B3KUI6;B4DRH4;Q9HCC8	.;.;.;GDPD2_HUMAN	F	261;182;182;261	ENSP00000414019:V261F;ENSP00000445982:V182F;ENSP00000444601:V182F;ENSP00000363503:V261F	.	V	+	1	0	GDPD2	69563790	0.998000	0.40836	0.998000	0.56505	0.709000	0.40893	0.379000	0.20585	0.008000	0.14787	-0.909000	0.02823	GTC		0.582	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		5	29	1	0	1.024e-07	0.000602	1.55521e-07	5	29				
MID2	11043	broad.mit.edu	37	X	107170202	107170202	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:107170202G>T	ENST00000262843.6	+	10	2655	c.2107G>T	c.(2107-2109)Ggc>Tgc	p.G703C	MID2_ENST00000443968.2_Missense_Mutation_p.G673C|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	703	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GATCCTGTCTGGCTTGCCTGC	0.443																																							uc004enl.2		NA																	0				ovary(1)	1						c.(2107-2109)GGC>TGC		midline 2 isoform 1							116.0	95.0	102.0					X																	107170202		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107170202G>T		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.2107G>T	X.37:g.107170202G>T	ENSP00000262843:p.Gly703Cys					MID2_uc004enk.2_Missense_Mutation_p.G673C	p.G703C	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			10	2680	+			703			B30.2/SPRY.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.2107G>T	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	19.72	3.881051	0.72294	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.61627	0.09;0.09	5.37	5.37	0.77165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.80954	0.4723	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85421	0.1143	10	0.72032	D	0.01	.	15.4927	0.75624	0.0:0.0:1.0:0.0	.	703;673	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	C	703;673	ENSP00000262843:G703C;ENSP00000413976:G673C	ENSP00000262843:G703C	G	+	1	0	MID2	107056858	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.298000	0.96132	2.252000	0.74401	0.596000	0.82720	GGC		0.443	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		19	42	1	0	3.99206e-14	0.007413	7.36337e-14	19	42				
COL4A6	1288	broad.mit.edu	37	X	107417713	107417713	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:107417713C>A	ENST00000372216.4	-	31	3198	c.3098G>T	c.(3097-3099)gGg>gTg	p.G1033V	COL4A6_ENST00000394872.2_Missense_Mutation_p.G1033V|COL4A6_ENST00000538570.1_Missense_Mutation_p.G1032V|COL4A6_ENST00000545689.1_Missense_Mutation_p.G1032V|COL4A6_ENST00000334504.7_Missense_Mutation_p.G1032V	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1033	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCCAGAGGACCCCTTCAGGCC	0.557									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	Melanoma(87;1895 1945 2589 7165)	uc004enw.3		NA																	0				ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(3097-3099)GGG>GTG		type IV alpha 6 collagen isoform A precursor							59.0	59.0	59.0					X																	107417713		2203	4300	6503	SO:0001583	missense	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107417713C>A	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3098G>T	X.37:g.107417713C>A	ENSP00000361290:p.Gly1033Val					COL4A6_uc004env.3_Missense_Mutation_p.G1032V|COL4A6_uc011msn.1_Missense_Mutation_p.G1032V|COL4A6_uc010npk.2_Missense_Mutation_p.G1032V	p.G1033V	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			31	3201	-			1033			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	c.3098G>T	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713443	0.30413	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-5.77	4.88	4.88	0.63580	.	0.000000	0.41712	D	0.000828	D	0.99715	0.9890	H	0.98996	4.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96997	0.9726	10	0.87932	D	0	.	17.9079	0.88925	0.0:1.0:0.0:0.0	.	1032;1032;1033;1032	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	V	1033;1032;1033;1032;1032;1032	ENSP00000361290:G1033V;ENSP00000334733:G1032V;ENSP00000378340:G1033V;ENSP00000443707:G1032V;ENSP00000445236:G1032V	ENSP00000334733:G1032V	G	-	2	0	COL4A6	107304369	1.000000	0.71417	0.369000	0.25952	0.090000	0.18270	6.885000	0.75606	2.359000	0.80004	0.538000	0.68166	GGG		0.557	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2			18	33	1	0	1.00905e-13	0.008871	1.85621e-13	18	33				
GLUD2	2747	broad.mit.edu	37	X	120182771	120182771	+	Silent	SNP	A	A	G			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:120182771A>G	ENST00000328078.1	+	1	1310	c.1233A>G	c.(1231-1233)ccA>ccG	p.P411P		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	411					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						CAACAACTCCAGAAGCTGATA	0.463																																							uc004eto.2		NA																	0				pancreas(1)	1						c.(1231-1233)CCA>CCG		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						183.0	171.0	175.0					X																	120182771		2203	4300	6503	SO:0001819	synonymous_variant	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182771A>G	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1233A>G	X.37:g.120182771A>G							p.P411P	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	1310	+			411					B2R8G0|Q9UDQ4	Silent	SNP	ENST00000328078.1	37	c.1233A>G	CCDS14603.1																																																																																				0.463	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		27	151	0	0	0	0.00632	0	27	151				
THOC2	57187	broad.mit.edu	37	X	122778518	122778518	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:122778518C>A	ENST00000245838.8	-	15	1600	c.1569G>T	c.(1567-1569)ctG>ctT	p.L523L	THOC2_ENST00000355725.4_Silent_p.L523L|THOC2_ENST00000491737.1_Silent_p.L408L	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	523					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ACTGGCCATACAGACGATATC	0.289																																							uc004etu.2		NA																	0				ovary(3)	3						c.(1567-1569)CTG>CTT		THO complex 2							78.0	67.0	70.0					X																	122778518		1810	4063	5873	SO:0001819	synonymous_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122778518C>A	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1569G>T	X.37:g.122778518C>A						THOC2_uc011muh.1_Silent_p.L444L|THOC2_uc011mui.1_Silent_p.L408L	p.L523L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			15	1601	-			523					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Silent	SNP	ENST00000245838.8	37	c.1569G>T	CCDS43988.1																																																																																				0.289	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			3	13	1	0	6.4e-05	0.004672	8.171e-05	3	13				
GPR101	83550	broad.mit.edu	37	X	136112879	136112879	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:136112879C>T	ENST00000298110.1	-	1	954	c.955G>A	c.(955-957)Gag>Aag	p.E319K		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	319						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TCCTTACCCTCCATGCTGCCG	0.587																																							uc011mwh.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(955-957)GAG>AAG		G protein-coupled receptor 101							336.0	249.0	279.0					X																	136112879		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136112879C>T	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.955G>A	X.37:g.136112879C>T	ENSP00000298110:p.Glu319Lys						p.E319K	NM_054021	NP_473362	Q96P66	GP101_HUMAN			1	955	-	Acute lymphoblastic leukemia(192;0.000127)		319			Cytoplasmic (Potential).		Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.955G>A	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294331	0.23564	.	.	ENSG00000165370	ENST00000298110	T	0.63417	-0.04	4.04	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.495920	0.15140	N	0.278339	T	0.46795	0.1411	L	0.36672	1.1	0.09310	N	0.99999	B	0.13145	0.007	B	0.18263	0.021	T	0.28396	-1.0045	10	0.23302	T	0.38	-3.6205	6.8099	0.23799	0.0:0.7186:0.1762:0.1053	.	319	Q96P66	GP101_HUMAN	K	319	ENSP00000298110:E319K	ENSP00000298110:E319K	E	-	1	0	GPR101	135940545	0.178000	0.23122	0.014000	0.15608	0.058000	0.15608	1.472000	0.35376	0.507000	0.28148	-0.275000	0.10095	GAG		0.587	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			44	205	0	0	0	0.01441	0	44	205				
PRRG3	79057	broad.mit.edu	37	X	150869328	150869328	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:150869328C>A	ENST00000370353.3	+	4	909	c.519C>A	c.(517-519)agC>agA	p.S173R	PRRG3_ENST00000538575.1_Missense_Mutation_p.S173R			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	173						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTAGAGAGCACCCTCTACC	0.667																																							uc004few.1		NA																	0				ovary(3)|skin(1)	4						c.(517-519)AGC>AGA		proline rich Gla (G-carboxyglutamic acid) 3							47.0	37.0	40.0					X																	150869328		2202	4299	6501	SO:0001583	missense	79057					extracellular region|integral to membrane	calcium ion binding	g.chrX:150869328C>A	AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.519C>A	X.37:g.150869328C>A	ENSP00000359378:p.Ser173Arg						p.S173R	NM_024082	NP_076987	Q9BZD7	TMG3_HUMAN			4	909	+	Acute lymphoblastic leukemia(192;6.56e-05)		173			Cytoplasmic (Potential).		A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	ENST00000370353.3	37	c.519C>A	CCDS14699.1	.	.	.	.	.	.	.	.	.	.	C	5.270	0.235253	0.09969	.	.	ENSG00000130032	ENST00000538575;ENST00000370353	D;D	0.98264	-4.83;-4.83	4.31	2.01	0.26516	.	0.252223	0.36932	N	0.002327	D	0.91492	0.7314	N	0.08118	0	0.30452	N	0.775105	P	0.39216	0.664	B	0.33690	0.168	D	0.88986	0.3411	9	.	.	.	-9.8835	7.1478	0.25593	0.0:0.7155:0.0:0.2845	.	173	Q9BZD7	TMG3_HUMAN	R	173	ENSP00000440217:S173R;ENSP00000359378:S173R	.	S	+	3	2	PRRG3	150619984	1.000000	0.71417	0.995000	0.50966	0.315000	0.28087	0.999000	0.29757	0.211000	0.20683	0.523000	0.50628	AGC		0.667	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082		11	22	1	0	5.16669e-11	0.010729	8.86454e-11	11	22				
GABRQ	55879	broad.mit.edu	37	X	151821180	151821180	+	Silent	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:151821180C>A	ENST00000370306.2	+	9	1355	c.1335C>A	c.(1333-1335)gcC>gcA	p.A445A		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	445					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)			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)	CCCCCCTGGCCACTGGAGAAA	0.592																																							uc004ffp.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1333-1335)GCC>GCA		gamma-aminobutyric acid (GABA) receptor, theta							69.0	68.0	68.0					X																	151821180		2203	4300	6503	SO:0001819	synonymous_variant	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:151821180C>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.1335C>A	X.37:g.151821180C>A							p.A445A	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			9	1355	+	Acute lymphoblastic leukemia(192;6.56e-05)		445					A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	ENST00000370306.2	37	c.1335C>A	CCDS14707.1																																																																																				0.592	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		34	73	1	0	3.90053e-15	0.012213	7.29229e-15	34	73				
HCFC1	3054	broad.mit.edu	37	X	153219910	153219910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:153219910G>A	ENST00000310441.7	-	17	4906	c.3940C>T	c.(3940-3942)Cag>Tag	p.Q1314*	HCFC1_ENST00000369984.4_Nonsense_Mutation_p.Q1314*|HCFC1_ENST00000354233.3_Nonsense_Mutation_p.Q1245*	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1314					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|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)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACACCCTCTGGGCGCTGCCT	0.677																																							uc004fjp.2		NA																	0				ovary(2)	2						c.(3940-3942)CAG>TAG		host cell factor 1							128.0	142.0	137.0					X																	153219910		2166	4222	6388	SO:0001587	stop_gained	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153219910G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3940C>T	X.37:g.153219910G>A	ENSP00000309555:p.Gln1314*						p.Q1314*	NM_005334	NP_005325	P51610	HCFC1_HUMAN			17	4468	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1314			HCF repeat 6.		Q6P4G5	Nonsense_Mutation	SNP	ENST00000310441.7	37	c.3940C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	g	46	12.549235	0.99677	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	.	.	.	5.45	4.58	0.56647	.	0.415856	0.26234	N	0.025550	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	12.7595	0.57356	0.0:0.3074:0.6925:0.0	.	.	.	.	X	1314;1314;1245	.	ENSP00000309555:Q1314X	Q	-	1	0	HCFC1	152873104	1.000000	0.71417	0.819000	0.32651	0.902000	0.53008	5.454000	0.66651	1.040000	0.40099	0.597000	0.82753	CAG		0.677	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		33	146	0	0	0	0.003755	0	33	146				
IL9R	3581	broad.mit.edu	37	X	155234100	155234100	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:155234100C>A	ENST00000244174.5	+	5	628	c.449C>A	c.(448-450)cCc>cAc	p.P150H	IL9R_ENST00000369423.2_Intron|IL9R_ENST00000540897.1_Intron|IL9R_ENST00000424344.3_Missense_Mutation_p.P129H	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	150	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	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)					CTGGACCCGCCCTCTGACTTG	0.542																																							uc004fnv.1		NA																	0					0						c.(448-450)CCC>CAC		interleukin 9 receptor precursor							126.0	106.0	113.0					X																	155234100		2203	4296	6499	SO:0001583	missense	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155234100C>A	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.449C>A	X.37:g.155234100C>A	ENSP00000244174:p.Pro150His					IL9R_uc010nvn.2_Missense_Mutation_p.P129H|IL9R_uc004fnu.1_Intron	p.P150H	NM_002186	NP_002177	Q01113	IL9R_HUMAN			5	628	+	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)		150			Extracellular (Potential).|Fibronectin type-III.		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	c.449C>A	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	.	12.29	1.894422	0.33442	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739	D;D	0.92752	-3.1;-3.1	1.44	1.44	0.22558	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.93864	0.8037	.	.	.	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.971	D	0.85489	0.1184	9	0.87932	D	0	-11.924	5.8372	0.18613	0.0:1.0:0.0:0.0	.	129;150	F5H3Z0;Q01113	.;IL9R_HUMAN	H	150;129;129	ENSP00000244174:P150H;ENSP00000388918:P129H	ENSP00000244174:P150H	P	+	2	0	IL9R	154887294	0.996000	0.38824	0.741000	0.31004	0.086000	0.17979	2.322000	0.43814	1.015000	0.39444	0.287000	0.19450	CCC		0.542	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	NM_002186		6	37	1	0	5.18039e-06	0.00308	7.1425e-06	6	37				
LGR6	59352	broad.mit.edu	37	1	202288091	202288091	+	Frame_Shift_Del	DEL	G	G	-	rs151146799	byFrequency	TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:202288091delG	ENST00000367278.3	+	18	2749	c.2660delG	c.(2659-2661)cggfs	p.R887fs	LGR6_ENST00000255432.7_Frame_Shift_Del_p.R835fs|LGR6_ENST00000439764.2_Frame_Shift_Del_p.R748fs	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	887					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GAAGCTGGGCGGCCCCCTGGG	0.627																																							uc001gxu.2		NA																	0				large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(2659-2661)CGGfs		leucine-rich repeat-containing G protein-coupled							54.0	63.0	60.0					1																	202288091		2203	4300	6503	SO:0001589	frameshift_variant	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202288091delG	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2660delG	1.37:g.202288091delG	ENSP00000356247:p.Arg887fs					LGR6_uc001gxv.2_Frame_Shift_Del_p.R835fs|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Frame_Shift_Del_p.R748fs	p.R887fs	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			18	2660	+			887			Cytoplasmic (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Frame_Shift_Del	DEL	ENST00000367278.3	37	c.2660delG	CCDS30971.1																																																																																				0.627	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		16	57	NA	NA	NA	NA	NA	16	57	---	---	---	---
FH	2271	broad.mit.edu	37	1	241675385	241675385	+	Frame_Shift_Del	DEL	C	C	-	rs11545654		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr1:241675385delC	ENST00000366560.3	-	4	475	c.437delG	c.(436-438)ggafs	p.G146fs	FH_ENST00000493477.1_5'Flank	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	146					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TGTCTGAGTTCCTGATCCAGT	0.353			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	Melanoma(148;1573 2486 7381 46575)	uc001hyx.2		NA	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	Mis|N|F	fumarate hydratase			"""E, M"""		lieomyomatosis|renal			0				lung(3)|ovary(1)|skin(1)	5						c.(436-438)GGAfs		fumarate hydratase precursor							182.0	167.0	172.0					1																	241675385		2203	4300	6503	SO:0001589	frameshift_variant	2271	Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241675385delC	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.437delG	1.37:g.241675385delC	ENSP00000355518:p.Gly146fs						p.G146fs	NM_000143	NP_000134	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	4	469	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	146					B1ANK7	Frame_Shift_Del	DEL	ENST00000366560.3	37	c.437delG	CCDS1617.1																																																																																				0.353	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	NM_000143		7	78	NA	NA	NA	NA	NA	7	78	---	---	---	---
TYR	7299	broad.mit.edu	37	11	88961080	88961081	+	Frame_Shift_Ins	INS	-	-	A	rs61754389		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr11:88961080_88961081insA	ENST00000263321.5	+	3	1628_1629	c.1126_1127insA	c.(1126-1128)cagfs	p.Q376fs		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	376				TMSQVQ -> HVPGT (in Ref. 2; AAA61241). {ECO:0000305}.	cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	AACAATGTCCCAGGTACAGGGA	0.411																																							uc001pcs.2		NA																	0				ovary(2)|central_nervous_system(1)	3	GRCh37	CM930719	TYR	M	rs61754389	c.(1126-1128)CAGfs		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)																																			SO:0001589	frameshift_variant	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88961080_88961081insA	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.1127dupA	11.37:g.88961081_88961081dupA	ENSP00000263321:p.Gln376fs						p.Q376fs	NM_000372	NP_000363	P14679	TYRO_HUMAN			3	1208_1209	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	376	TMSQVQ -> HVPGT (in Ref. 2; AAA61241).		Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Frame_Shift_Ins	INS	ENST00000263321.5	37	c.1126_1127insA	CCDS8284.1																																																																																				0.411	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		7	68	NA	NA	NA	NA	NA	7	68	---	---	---	---
STRN4	29888	broad.mit.edu	37	19	47231253	47231253	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:47231253delC	ENST00000263280.6	-	8	1100	c.1051delG	c.(1051-1053)gtcfs	p.V351fs	STRN4_ENST00000391910.3_Frame_Shift_Del_p.V351fs|CTB-174O21.2_ENST00000600716.1_RNA|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000539396.1_Frame_Shift_Del_p.V232fs	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	351						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGGAGTTTGACCCGACGGCTT	0.647																																							uc002pfl.2		NA																	0					0						c.(1051-1053)GTCfs		zinedin isoform 1							47.0	43.0	44.0					19																	47231253		2203	4300	6503	SO:0001589	frameshift_variant	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47231253delC	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1051delG	19.37:g.47231253delC	ENSP00000263280:p.Val351fs					STRN4_uc002pfm.2_Frame_Shift_Del_p.V351fs|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	p.V351fs	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	8	1084	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	351					A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Frame_Shift_Del	DEL	ENST00000263280.6	37	c.1051delG	CCDS12690.1																																																																																				0.647	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2			10	32	NA	NA	NA	NA	NA	10	32	---	---	---	---
FIZ1	84922	broad.mit.edu	37	19	56104337	56104337	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:56104337delC	ENST00000221665.3	-	3	1059	c.970delG	c.(970-972)gagfs	p.E324fs		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	324					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TCCGAGGGCTCGGCGGCCGCC	0.776																																							uc002qli.3		NA																	0					0						c.(970-972)GAGfs		FLT3-interacting zinc finger 1							4.0	4.0	4.0					19																	56104337		1343	2577	3920	SO:0001589	frameshift_variant	84922				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	g.chr19:56104337delC	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.970delG	19.37:g.56104337delC	ENSP00000221665:p.Glu324fs					FIZ1_uc002qlj.3_Frame_Shift_Del_p.E324fs	p.E324fs	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	3	1060	-			324					A2RU72|Q6ZMJ7	Frame_Shift_Del	DEL	ENST00000221665.3	37	c.970delG	CCDS12928.1																																																																																				0.776	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
NLRP8	126205	broad.mit.edu	37	19	56490891	56490891	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr19:56490891delA	ENST00000291971.3	+	9	3079	c.3008delA	c.(3007-3009)gagfs	p.E1003fs	NLRP8_ENST00000590542.1_Frame_Shift_Del_p.E984fs	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	1003					neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCTTGTGCGAGGCCTTCTCA	0.478																																							uc002qmh.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.(3007-3009)GAGfs		NLR family, pyrin domain containing 8							117.0	113.0	115.0					19																	56490891		2203	4300	6503	SO:0001589	frameshift_variant	126205					cytoplasm	ATP binding	g.chr19:56490891delA	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.3008delA	19.37:g.56490891delA	ENSP00000291971:p.Glu1003fs					NLRP8_uc010etg.2_Frame_Shift_Del_p.E984fs	p.E1003fs	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	9	3079	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	1003			LRR 6.		Q7RTR4	Frame_Shift_Del	DEL	ENST00000291971.3	37	c.3008delA	CCDS12937.1																																																																																				0.478	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		14	75	NA	NA	NA	NA	NA	14	75	---	---	---	---
DEFB116	245930	broad.mit.edu	37	20	29891135	29891136	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr20:29891135_29891136insT	ENST00000400549.1	-	2	187_188	c.188_189insA	c.(187-189)aatfs	p.N63fs		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	63					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ACTTTTGATCATTTGGGCAGGT	0.416																																							uc010ztm.1		NA																	0					0						c.(187-189)AATfs		beta-defensin 116 precursor																																				SO:0001589	frameshift_variant	245930				defense response to bacterium	extracellular region		g.chr20:29891135_29891136insT	DQ012020	CCDS42860.1	20q11.21	2008-07-17			ENSG00000215545	ENSG00000215545		"""Defensins, beta"""	18097	protein-coding gene	gene with protein product	"""defensin, beta 16"""					11854508, 16033865	Standard	NM_001037731		Approved	DEFB-16	uc010ztm.2	Q30KQ4	OTTHUMG00000159285	ENST00000400549.1:c.189dupA	20.37:g.29891138_29891138dupT	ENSP00000383396:p.Asn63fs						p.N63fs	NM_001037731	NP_001032820	Q30KQ4	DB116_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		2	188_189	-	all_hematologic(12;0.158)		63						Frame_Shift_Ins	INS	ENST00000400549.1	37	c.188_189insA	CCDS42860.1																																																																																				0.416	DEFB116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354403.1	NM_001037731		34	242	NA	NA	NA	NA	NA	34	242	---	---	---	---
SH3BGR	6450	broad.mit.edu	37	21	40823995	40823995	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:40823995delG	ENST00000333634.4	+	1	240	c.162delG	c.(160-162)ttgfs	p.L54fs	SH3BGR_ENST00000380634.1_Intron|SH3BGR_ENST00000380631.1_Intron|SH3BGR_ENST00000458295.1_Intron|SH3BGR_ENST00000380637.3_Intron	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	54					positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		GGGGTGTGTTGGGGGGAGTCC	0.552																																							uc002yya.2		NA																	0					0						c.(160-162)TTGfs		SH3-binding domain and glutamic acid-rich							205.0	196.0	199.0					21																	40823995		2203	4300	6503	SO:0001589	frameshift_variant	6450				protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity	g.chr21:40823995delG		CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"""21-glutamic acid-rich protein"""	602230	"""SH3 domain binding glutamic acid-rich protein"""			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.162delG	21.37:g.40823995delG	ENSP00000332513:p.Leu54fs					SH3BGR_uc002yxz.2_Intron	p.L54fs	NM_007341	NP_031367	P55822	SH3BG_HUMAN		STAD - Stomach adenocarcinoma(101;0.00151)	1	216	+		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)	54					A6ND59|D3DSI2|Q9BRB8	Frame_Shift_Del	DEL	ENST00000333634.4	37	c.162delG	CCDS13666.1																																																																																				0.552	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157377.6	NM_007341		42	116	NA	NA	NA	NA	NA	42	116	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47832852	47832852	+	Frame_Shift_Del	DEL	G	G	-	rs370040791		TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr21:47832852delG	ENST00000359568.5	+	29	6203	c.6096delG	c.(6094-6096)tcgfs	p.S2032fs	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2032					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCTGCAGTCGGAGCTGCTCT	0.617																																							uc002zji.3		NA																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(6094-6096)TCGfs		pericentrin							73.0	71.0	72.0					21																	47832852		2203	4300	6503	SO:0001589	frameshift_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47832852delG	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.6096delG	21.37:g.47832852delG	ENSP00000352572:p.Ser2032fs					PCNT_uc002zjj.2_Frame_Shift_Del_p.S1914fs	p.S2032fs	NM_006031	NP_006022	O95613	PCNT_HUMAN			29	6203	+	Breast(49;0.112)		2032					O43152|Q7Z7C9	Frame_Shift_Del	DEL	ENST00000359568.5	37	c.6096delG	CCDS33592.1																																																																																				0.617	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		9	61	NA	NA	NA	NA	NA	9	61	---	---	---	---
SH3RF1	57630	broad.mit.edu	37	4	170043254	170043255	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr4:170043254_170043255delCT	ENST00000284637.9	-	7	1683_1684	c.1342_1343delAG	c.(1342-1344)agtfs	p.S448fs	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	448	Interaction with AKT2. {ECO:0000250}.|SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)			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)		CACTTACACACTGGGGCGAGTC	0.545																																							uc003isa.1		NA																	0				breast(2)|lung(1)	3						c.(1342-1344)AGTfs		SH3 domain containing ring finger 1																																				SO:0001589	frameshift_variant	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170043254_170043255delCT	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.1342_1343delAG	4.37:g.170043254_170043255delCT	ENSP00000284637:p.Ser448fs					SH3RF1_uc010irc.1_Frame_Shift_Del_p.S148fs	p.S448fs	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	7	1677_1678	-		Prostate(90;0.00267)|Renal(120;0.0183)	448			SH3 3.|Interaction with AKT2 (By similarity).		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Frame_Shift_Del	DEL	ENST00000284637.9	37	c.1342_1343delAG	CCDS34099.1																																																																																				0.545	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		9	34	NA	NA	NA	NA	NA	9	34	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82836883	82836884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chr5:82836883_82836884insC	ENST00000265077.3	+	8	8626_8627	c.8061_8062insC	c.(8062-8064)cccfs	p.P2688fs	VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Frame_Shift_Ins_p.P1701fs|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000512590.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2688	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACGTTTTACTTCCCACGGCAAC	0.441																																							uc003kii.3		NA																	0				ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(8059-8064)CTTCCCfs		versican isoform 1 precursor																																				SO:0001589	frameshift_variant	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82836883_82836884insC	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.8064dupC	5.37:g.82836886_82836886dupC	ENSP00000265077:p.Pro2688fs					VCAN_uc003kij.3_Frame_Shift_Ins_p.L1700fs|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Frame_Shift_Ins_p.L1351fs	p.L2687fs	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	8417_8418	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2687_2688			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Frame_Shift_Ins	INS	ENST00000265077.3	37	c.8061_8062insC	CCDS4060.1																																																																																				0.441	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		9	49	NA	NA	NA	NA	NA	9	49	---	---	---	---
OCRL	4952	broad.mit.edu	37	X	128722155	128722155	+	Splice_Site	DEL	G	G	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:128722155delG	ENST00000371113.4	+	21	2421		c.e21-1		OCRL_ENST00000357121.5_Splice_Site	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe						cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTCTTTGGTAGGAGGACCTGT	0.488																																							uc004euq.2		NA																	0				lung(2)|ovary(1)|kidney(1)	4						c.e21-1		phosphatidylinositol polyphosphate 5-phosphatase							91.0	84.0	87.0					X																	128722155		2203	4300	6503	SO:0001630	splice_region_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128722155delG	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2257-1G>-	X.37:g.128722155delG						OCRL_uc004eur.2_Splice_Site_p.E745_splice|OCRL_uc010nrb.2_5'Flank	p.E753_splice	NM_000276	NP_000267	Q01968	OCRL_HUMAN			21	2422	+								A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Splice_Site	DEL	ENST00000371113.4	37	c.2257_splice	CCDS35393.1																																																																																				0.488	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	Intron	12	34	NA	NA	NA	NA	NA	12	34	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129149178	129149178	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6985-01A-11D-1945-08	TCGA-55-6985-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	66ba22b1-aab9-4c8d-be49-5b417cb53094	af54c77e-4dbd-4955-b021-db04c738c39d	g.chrX:129149178delG	ENST00000218147.7	+	4	2627	c.2430delG	c.(2428-2430)ccgfs	p.P810fs	BCORL1_ENST00000540052.1_Frame_Shift_Del_p.P810fs|BCORL1_ENST00000303743.5_Frame_Shift_Del_p.P810fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.P810fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	810					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCACGGGGCCGGCAAATATTT	0.577																																							uc004evb.1		NA																	0				ovary(4)|breast(2)|lung(1)	7						c.(2428-2430)CCGfs		BCL6 co-repressor-like 1							47.0	51.0	50.0					X																	129149178		2203	4300	6503	SO:0001589	frameshift_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129149178delG	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.2430delG	X.37:g.129149178delG	ENSP00000218147:p.Pro810fs					BCORL1_uc010nrd.1_Frame_Shift_Del_p.P712fs	p.P810fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	2544	+			810					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Del	DEL	ENST00000218147.7	37	c.2430delG	CCDS14616.1																																																																																				0.577	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		25	74	NA	NA	NA	NA	NA	25	74	---	---	---	---
