#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
ACAP3	116983	broad.mit.edu	37	1	1231132	1231132	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:1231132C>A	ENST00000354700.5	-	18	1891	c.1689G>T	c.(1687-1689)gtG>gtT	p.V563V	ACAP3_ENST00000353662.3_Silent_p.V521V|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	563					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.V563V(1)|p.V521V(1)		endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						ACAGAGCGGCCACACAGGGCA	0.706																																							uc001aeb.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1687-1689)GTG>GTT		ArfGAP with coiled-coil, ankyrin repeat and PH							15.0	19.0	18.0					1																	1231132		2188	4287	6475	SO:0001819	synonymous_variant	116983				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr1:1231132C>A	AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.1689G>T	1.37:g.1231132C>A						ACAP3_uc001ady.2_Silent_p.V293V|ACAP3_uc001aea.2_Silent_p.V521V	p.V563V	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN			18	1763	-			563					B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Silent	SNP	ENST00000354700.5	37	c.1689G>T	CCDS19.2																																																																																				0.706	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649		6	20	1	0	0.00116845	0.001168	0.00126673	6	20				
CA6	765	broad.mit.edu	37	1	9009428	9009428	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:9009428C>A	ENST00000377443.2	+	2	190	c.186C>A	c.(184-186)tcC>tcA	p.S62S	CA6_ENST00000480186.3_Silent_p.S62S|CA6_ENST00000377442.2_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Silent_p.S62S	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	62					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)	p.S62S(2)		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)	ACAACCCCTCCTTGAAGGGGC	0.602																																							uc001apm.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(184-186)TCC>TCA		carbonic anhydrase VI precursor							58.0	49.0	52.0					1																	9009428		2203	4300	6503	SO:0001819	synonymous_variant	765				one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	g.chr1:9009428C>A	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.186C>A	1.37:g.9009428C>A						CA6_uc009vmn.2_Intron	p.S62S	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)	2	210	+	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)	62					E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03	Silent	SNP	ENST00000377443.2	37	c.186C>A	CCDS30578.1																																																																																				0.602	CA6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000004911.1			9	24	1	0	5.50884e-06	0.001368	6.74235e-06	9	24				
MTHFR	4524	broad.mit.edu	37	1	11855339	11855339	+	Missense_Mutation	SNP	C	C	T	rs547583387		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:11855339C>T	ENST00000376592.1	-	5	975	c.847G>A	c.(847-849)Gtg>Atg	p.V283M	MTHFR_ENST00000376590.3_Missense_Mutation_p.V283M|MTHFR_ENST00000376583.3_Missense_Mutation_p.V324M|MTHFR_ENST00000376585.1_Missense_Mutation_p.V324M			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	283					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)	p.V283M(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GGCTCAATCACGTCCTTGATC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		20061	0.001		0.0	False		,,,				2504	0.0						uc001atc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(847-849)GTG>ATG		5,10-methylenetetrahydrofolate reductase	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						106.0	98.0	100.0					1																	11855339		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11855339C>T	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.847G>A	1.37:g.11855339C>T	ENSP00000365777:p.Val283Met					MTHFR_uc001atb.1_Missense_Mutation_p.V306M	p.V283M	NM_005957	NP_005948	P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	6	1031	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	283					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.847G>A	CCDS137.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867823	0.51588	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.92149	-2.98;-2.98;-2.98;-2.98	4.7	3.79	0.43588	.	0.120359	0.56097	D	0.000032	D	0.90290	0.6963	N	0.16567	0.415	0.50467	D	0.999877	D;D	0.58268	0.97;0.982	P;P	0.58928	0.688;0.848	D	0.90750	0.4656	10	0.62326	D	0.03	.	12.2114	0.54381	0.0:0.9167:0.0:0.0833	.	283;324	P42898;Q5SNW6	MTHR_HUMAN;.	M	283;324;283;324	ENSP00000365777:V283M;ENSP00000365767:V324M;ENSP00000365775:V283M;ENSP00000365770:V324M	ENSP00000365767:V324M	V	-	1	0	MTHFR	11777926	0.999000	0.42202	0.998000	0.56505	0.341000	0.28922	4.283000	0.58977	1.107000	0.41642	-0.379000	0.06801	GTG		0.597	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1	NM_005957		5	49	0	0	0	0.000602	0	5	49				
PRAMEF1	65121	broad.mit.edu	37	1	12853569	12853569	+	Missense_Mutation	SNP	C	C	A	rs138008515		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:12853569C>A	ENST00000332296.7	+	2	296	c.193C>A	c.(193-195)Cct>Act	p.P65T	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	65					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.P65T(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCTGCCTCCCTCTGGGATC	0.552																																							uc001auj.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(193-195)CCT>ACT		PRAME family member 1							107.0	113.0	111.0					1																	12853569		2203	4297	6500	SO:0001583	missense	65121							g.chr1:12853569C>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.193C>A	1.37:g.12853569C>A	ENSP00000332134:p.Pro65Thr						p.P65T	NM_023013	NP_075389	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	296	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	65					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.193C>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	10.29	1.310515	0.23821	.	.	ENSG00000116721	ENST00000332296	T	0.27890	1.64	1.82	0.89	0.19218	.	0.334374	0.27447	N	0.019331	T	0.52805	0.1757	M	0.89095	3.005	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.38845	-0.9642	10	0.72032	D	0.01	.	4.3067	0.10951	0.0:0.791:0.0:0.209	.	65	O95521	PRAM1_HUMAN	T	65	ENSP00000332134:P65T	ENSP00000332134:P65T	P	+	1	0	PRAMEF1	12776156	0.018000	0.18449	0.006000	0.13384	0.010000	0.07245	0.667000	0.25112	0.337000	0.23665	-0.336000	0.08194	CCT		0.552	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		35	193	1	0	8.69298e-16	0.006999	1.42026e-15	35	193				
NBPF1	55672	broad.mit.edu	37	1	16895686	16895686	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:16895686C>G	ENST00000430580.2	-	23	3383	c.2496G>C	c.(2494-2496)tgG>tgC	p.W832C	NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	832	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AACCTTCATCCCAGGACTCCT	0.483																																							uc009vos.1		NA																	0					0						c.(2494-2496)TGG>TGC		hypothetical protein LOC55672							60.0	62.0	61.0					1																	16895686		1576	3279	4855	SO:0001583	missense	55672					cytoplasm		g.chr1:16895686C>G	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2496G>C	1.37:g.16895686C>G	ENSP00000474456:p.Trp832Cys					NBPF1_uc009vot.1_Missense_Mutation_p.W290C|NBPF1_uc001ayz.1_Missense_Mutation_p.W290C|NBPF1_uc010oce.1_Missense_Mutation_p.W561C	p.W832C	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	23	3384	-			832			NBPF 4.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.2496G>C																																																																																					0.483	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		19	396	0	0	0	0.002299	0	19	396				
EMC1	23065	broad.mit.edu	37	1	19571464	19571464	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:19571464C>T	ENST00000477853.1	-	2	198	c.156G>A	c.(154-156)aaG>aaA	p.K52K	EMC1_ENST00000375208.3_Silent_p.K52K|EMC1_ENST00000375199.3_Silent_p.K52K|EMC1_ENST00000356068.2_Silent_p.K52K	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	52						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)		p.K52K(1)									CAACCAACTTCTTGGATCCAG	0.458																																						GBM(4;72 124 25802 30195)	uc001bbo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(154-156)AAG>AAA		hypothetical protein LOC23065 precursor							125.0	129.0	128.0					1																	19571464		2203	4300	6503	SO:0001819	synonymous_variant	23065					integral to membrane	protein binding	g.chr1:19571464C>T		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.156G>A	1.37:g.19571464C>T						KIAA0090_uc001bbp.2_Silent_p.K52K|KIAA0090_uc001bbq.2_Silent_p.K52K|KIAA0090_uc001bbr.2_Silent_p.K52K	p.K52K	NM_015047	NP_055862	Q8N766	K0090_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)	2	199	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)	52			Extracellular (Potential).		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.156G>A	CCDS190.1																																																																																				0.458	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	NM_015047		10	129	0	0	0	0.010729	0	10	129				
EPHB2	2048	broad.mit.edu	37	1	23191473	23191473	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:23191473C>G	ENST00000400191.3	+	5	1089	c.1071C>G	c.(1069-1071)gtC>gtG	p.V357V	EPHB2_ENST00000374630.3_Silent_p.V357V|EPHB2_ENST00000374627.1_Silent_p.V351V|MIR4253_ENST00000581187.1_RNA|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Silent_p.V357V|EPHB2_ENST00000544305.1_Silent_p.V357V	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	357	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	p.V357V(1)		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)		AGGACCTCGTCTACAACATCA	0.652																																							uc009vqj.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|pancreas(1)	5						c.(1069-1071)GTC>GTG		ephrin receptor EphB2 isoform 1 precursor							65.0	71.0	69.0					1																	23191473		2203	4300	6503	SO:0001819	synonymous_variant	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23191473C>G	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.1071C>G	1.37:g.23191473C>G						EPHB2_uc001bge.2_Silent_p.V357V|EPHB2_uc001bgf.2_Silent_p.V357V|EPHB2_uc010odu.1_Silent_p.V357V|hsa-mir-4253|MI0015860_5'Flank	p.V357V	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)	5	1216	+		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)	357			Extracellular (Potential).|Fibronectin type-III 1.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.1071C>G																																																																																					0.652	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		10	99	0	0	0	0.010729	0	10	99				
EPHB2	2048	broad.mit.edu	37	1	23191648	23191648	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:23191648G>T	ENST00000400191.3	+	5	1264	c.1246G>T	c.(1246-1248)Gac>Tac	p.D416Y	EPHB2_ENST00000374630.3_Missense_Mutation_p.D416Y|EPHB2_ENST00000374627.1_Missense_Mutation_p.D410Y|MIR4253_ENST00000581187.1_RNA|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Missense_Mutation_p.D416Y|EPHB2_ENST00000544305.1_Missense_Mutation_p.D416Y	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	416	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	p.D416H(1)|p.D416Y(1)		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)		CGGCGTTACTGACCAGAGCCC	0.612																																							uc009vqj.1		NA																	2	Substitution - Missense(2)		prostate(1)|lung(1)	ovary(3)|lung(1)|pancreas(1)	5						c.(1246-1248)GAC>TAC		ephrin receptor EphB2 isoform 1 precursor							129.0	105.0	113.0					1																	23191648		2203	4300	6503	SO:0001583	missense	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23191648G>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.1246G>T	1.37:g.23191648G>T	ENSP00000383053:p.Asp416Tyr					EPHB2_uc001bge.2_Missense_Mutation_p.D416Y|EPHB2_uc001bgf.2_Missense_Mutation_p.D416Y|EPHB2_uc010odu.1_Missense_Mutation_p.D416Y|hsa-mir-4253|MI0015860_5'Flank	p.D416Y	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)	5	1391	+		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)	416			Extracellular (Potential).|Fibronectin type-III 1.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.1246G>T		.	.	.	.	.	.	.	.	.	.	G	17.28	3.349824	0.61183	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.75154	5.29;-0.9;-0.91;-0.89;-0.89	4.99	4.99	0.66335	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83207	0.5204	M	0.79475	2.455	0.51767	D	0.999936	P;D;D;D	0.54601	0.524;0.967;0.967;0.96	B;P;P;P	0.62491	0.156;0.903;0.903;0.844	D	0.84401	0.0560	10	0.62326	D	0.03	.	10.5696	0.45192	0.0885:0.0:0.9115:0.0	.	416;416;434;416	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	Y	416;416;416;416;416;410	ENSP00000444174:D416Y;ENSP00000363761:D416Y;ENSP00000383053:D416Y;ENSP00000363763:D416Y;ENSP00000363758:D410Y	ENSP00000363755:D416Y	D	+	1	0	EPHB2	23064235	1.000000	0.71417	0.999000	0.59377	0.876000	0.50452	5.639000	0.67868	2.579000	0.87056	0.462000	0.41574	GAC		0.612	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		17	72	1	0	1.67942e-08	0.006122	2.29792e-08	17	72				
YARS	8565	broad.mit.edu	37	1	33272110	33272110	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:33272110C>T	ENST00000373477.4	-	4	1391	c.483G>A	c.(481-483)ctG>ctA	p.L161L		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	161					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)	p.L161L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	AGAGGCCACTCAGCAAAGGGT	0.522																																							uc001bvy.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(481-483)CTG>CTA		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						170.0	158.0	162.0					1																	33272110		2203	4300	6503	SO:0001819	synonymous_variant	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33272110C>T	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.483G>A	1.37:g.33272110C>T							p.L161L	NM_003680	NP_003671	P54577	SYYC_HUMAN			4	1271	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	161					B3KWK4|D3DPQ4|O43276|Q53EN1	Silent	SNP	ENST00000373477.4	37	c.483G>A	CCDS368.1																																																																																				0.522	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		14	167	0	0	0	0.00245	0	14	167				
CSMD2	114784	broad.mit.edu	37	1	34401436	34401436	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:34401436C>A	ENST00000373381.4	-	4	813	c.637G>T	c.(637-639)Ggc>Tgc	p.G213C		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	173	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G173C(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACGGCGTGGCCCTCCAGGAAG	0.632																																							uc001bxn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|pancreas(1)	12						c.(517-519)GGC>TGC		CUB and Sushi multiple domains 2							99.0	91.0	94.0					1																	34401436		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34401436C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.637G>T	1.37:g.34401436C>A	ENSP00000362479:p.Gly213Cys					CSMD2_uc001bxm.1_Missense_Mutation_p.G213C	p.G173C	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			4	546	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	173			Sushi 1.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.517G>T		.	.	.	.	.	.	.	.	.	.	C	26.3	4.723183	0.89298	.	.	ENSG00000121904	ENST00000373381	T	0.73469	-0.75	5.27	5.27	0.74061	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.92509	0.7621	H	0.99336	4.52	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.83275	0.95;0.996	D	0.95699	0.8747	10	0.87932	D	0	.	17.8728	0.88816	0.0:1.0:0.0:0.0	.	173;213	Q7Z408;E7EUA6	CSMD2_HUMAN;.	C	213	ENSP00000362479:G213C	ENSP00000241312:G173C	G	-	1	0	CSMD2	34174023	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.686000	0.84128	2.439000	0.82584	0.563000	0.77884	GGC		0.632	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		14	55	1	0	2.31682e-05	0.003163	2.75172e-05	14	55				
GRIK3	2899	broad.mit.edu	37	1	37307394	37307394	+	Nonsense_Mutation	SNP	G	G	T	rs149891912	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:37307394G>T	ENST00000373091.3	-	10	1489	c.1473C>A	c.(1471-1473)taC>taA	p.Y491*	GRIK3_ENST00000373093.4_Nonsense_Mutation_p.Y491*	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	491					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.Y491*(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CCTGTGCCCCGTACTTGCCGT	0.597																																							uc001caz.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(1471-1473)TAC>TAA		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						173.0	152.0	159.0					1																	37307394		2203	4300	6503	SO:0001587	stop_gained	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37307394G>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1473C>A	1.37:g.37307394G>T	ENSP00000362183:p.Tyr491*					GRIK3_uc001cba.1_Nonsense_Mutation_p.Y491*	p.Y491*	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			10	1608	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	491			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Nonsense_Mutation	SNP	ENST00000373091.3	37	c.1473C>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022978	0.75275	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	.	.	.	4.86	-1.82	0.07857	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.6146	0.45443	0.5183:0.0:0.4817:0.0	.	.	.	.	X	491	.	ENSP00000362183:Y491X	Y	-	3	2	GRIK3	37079981	0.370000	0.25047	0.970000	0.41538	0.382000	0.30200	-0.312000	0.08113	-0.291000	0.09012	-0.218000	0.12543	TAC		0.597	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		16	113	1	0	1.52009e-12	0.003163	2.32694e-12	16	113				
FOXJ3	22887	broad.mit.edu	37	1	42647591	42647591	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:42647591C>T	ENST00000372572.1	-	14	2061	c.1750G>A	c.(1750-1752)Gca>Aca	p.A584T	FOXJ3_ENST00000361776.1_Missense_Mutation_p.A550T|FOXJ3_ENST00000372573.1_Missense_Mutation_p.A584T|FOXJ3_ENST00000361346.1_Missense_Mutation_p.A584T|FOXJ3_ENST00000545068.1_Missense_Mutation_p.A584T|FOXJ3_ENST00000372571.1_Missense_Mutation_p.A98T	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	584					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A584T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTCTTACCTGCCATCGTTGTT	0.507																																							uc001che.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1750-1752)GCA>ACA		forkhead box J3							65.0	57.0	60.0					1																	42647591		2203	4300	6503	SO:0001583	missense	22887				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr1:42647591C>T	AB028964	CCDS30689.1, CCDS55594.1	1p34.2	2008-04-10			ENSG00000198815	ENSG00000198815		"""Forkhead boxes"""	29178	protein-coding gene	gene with protein product							Standard	NM_014947		Approved	KIAA1041	uc001chf.3	Q9UPW0	OTTHUMG00000007026	ENST00000372572.1:c.1750G>A	1.37:g.42647591C>T	ENSP00000361653:p.Ala584Thr					FOXJ3_uc001chf.2_Missense_Mutation_p.A584T|FOXJ3_uc001chg.2_Missense_Mutation_p.A584T	p.A584T	NM_014947	NP_055762	Q9UPW0	FOXJ3_HUMAN			14	2062	-	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	584					A7MBL7|A7MD18|D3DPW2|Q9NSS7	Missense_Mutation	SNP	ENST00000372572.1	37	c.1750G>A	CCDS30689.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769228	0.31320	.	.	ENSG00000198815	ENST00000372573;ENST00000372572;ENST00000372571;ENST00000361346;ENST00000361776;ENST00000545068	D;D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.2;-3.22	5.37	1.48	0.22813	.	0.314458	0.30464	N	0.009571	T	0.75280	0.3828	N	0.00926	-1.1	0.32590	N	0.527326	B	0.02656	0.0	B	0.01281	0.0	T	0.67189	-0.5733	10	0.29301	T	0.29	.	4.1957	0.10441	0.1501:0.5224:0.0:0.3275	.	584	Q9UPW0	FOXJ3_HUMAN	T	584;584;98;584;550;584	ENSP00000361654:A584T;ENSP00000361653:A584T;ENSP00000354620:A584T;ENSP00000354449:A550T;ENSP00000439044:A584T	ENSP00000354620:A584T	A	-	1	0	FOXJ3	42420178	0.766000	0.28496	0.867000	0.34043	0.970000	0.65996	0.176000	0.16782	0.080000	0.16959	0.655000	0.94253	GCA		0.507	FOXJ3-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000018310.1	NM_014947		6	24	0	0	0	0.001168	0	6	24				
ERMAP	114625	broad.mit.edu	37	1	43308638	43308638	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:43308638C>T	ENST00000372517.2	+	12	1407	c.1163C>T	c.(1162-1164)tCt>tTt	p.S388F	ERMAP_ENST00000487556.1_3'UTR|RP11-342M1.3_ENST00000414798.1_RNA|ERMAP_ENST00000372514.3_Missense_Mutation_p.S388F|RP11-342M1.3_ENST00000425076.1_RNA|RP11-342M1.3_ENST00000444563.1_RNA|ERMAP_ENST00000328249.3_Missense_Mutation_p.S298F|RP11-342M1.3_ENST00000416809.2_RNA	NM_001017922.1	NP_001017922.1	Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	388	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		Missing (in Sc-3 allele).			cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S388F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACAATTTCTCTGGCCCCCTT	0.453																																							uc001cic.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1162-1164)TCT>TTT		erythroblast membrane-associated protein							158.0	167.0	164.0					1																	43308638		2203	4300	6503	SO:0001583	missense	114625					integral to membrane|plasma membrane		g.chr1:43308638C>T	AF311284	CCDS475.1	1p34	2014-07-19	2006-02-23		ENSG00000164010	ENSG00000164010		"""Blood group antigens"", ""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	15743	protein-coding gene	gene with protein product		609017	"""Radin blood group"", ""Scianna blood group"", ""erythroblast membrane-associated protein"", ""erythroblast membrane-associated protein (RD and SC blood groups)"""	RD, SC		11549310	Standard	XM_005270415		Approved	BTN5	uc001cie.1	Q96PL5	OTTHUMG00000007619	ENST00000372517.2:c.1163C>T	1.37:g.43308638C>T	ENSP00000361595:p.Ser388Phe					ERMAP_uc001cid.1_RNA|ERMAP_uc001cie.1_Missense_Mutation_p.S388F|ERMAP_uc001cif.1_Missense_Mutation_p.S298F	p.S388F	NM_001017922	NP_001017922	Q96PL5	ERMAP_HUMAN			12	1433	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	388		Missing (in Sc-3 allele).	Cytoplasmic (Potential).|B30.2/SPRY.		D3DPW8|Q5VV53|Q6DUE0|Q7Z3X0|Q8NCV8|Q8NCW2|Q8NCW3|Q96PL6	Missense_Mutation	SNP	ENST00000372517.2	37	c.1163C>T	CCDS475.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307239	0.60305	.	.	ENSG00000164010	ENST00000372517;ENST00000372514;ENST00000328249	T;T;T	0.63913	-0.07;-0.07;-0.07	5.16	4.25	0.50352	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.081685	0.52532	D	0.000078	T	0.80374	0.4611	M	0.90814	3.15	0.32635	N	0.521446	D	0.69078	0.997	D	0.68353	0.957	D	0.86253	0.1650	10	0.56958	D	0.05	.	11.5127	0.50502	0.0:0.9136:0.0:0.0864	.	388	Q96PL5	ERMAP_HUMAN	F	388;388;298	ENSP00000361595:S388F;ENSP00000361592:S388F;ENSP00000332439:S298F	ENSP00000332439:S298F	S	+	2	0	ERMAP	43081225	0.310000	0.24527	0.975000	0.42487	0.927000	0.56198	0.485000	0.22324	1.425000	0.47237	-0.140000	0.14226	TCT		0.453	ERMAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020180.1	NM_018538		7	142	0	0	0	0.004482	0	7	142				
CDCP2	200008	broad.mit.edu	37	1	54606877	54606877	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:54606877G>T	ENST00000371330.1	-	3	1504	c.657C>A	c.(655-657)ggC>ggA	p.G219G	CDCP2_ENST00000530059.1_5'Flank|RP11-446E24.4_ENST00000525949.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	219	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)		p.G219G(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GCCTGGTGCTGCCACAGTAGT	0.617																																							uc001cwv.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(655-657)GGC>GGA		CUB domain containing protein 2 precursor							48.0	47.0	47.0					1																	54606877		2203	4300	6503	SO:0001819	synonymous_variant	200008					extracellular region		g.chr1:54606877G>T		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.657C>A	1.37:g.54606877G>T							p.G219G	NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN			3	1505	-			219			CUB 2.		Q6ZWJ3	Silent	SNP	ENST00000371330.1	37	c.657C>A	CCDS588.2																																																																																				0.617	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		7	31	1	0	5.18039e-06	0.00308	6.39282e-06	7	31				
DNAJC6	9829	broad.mit.edu	37	1	65851517	65851517	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:65851517G>T	ENST00000395325.3	+	7	909	c.752G>T	c.(751-753)tGt>tTt	p.C251F	DNAJC6_ENST00000498720.1_3'UTR|DNAJC6_ENST00000263441.7_Missense_Mutation_p.C238F|DNAJC6_ENST00000371069.4_Missense_Mutation_p.C308F	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	251	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell death (GO:0008219)|clathrin coat disassembly (GO:0072318)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytosol (GO:0005829)|synapse (GO:0045202)	protein tyrosine phosphatase activity (GO:0004725)	p.C251F(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AGGAATGGATGTCGCCCTTAC	0.418																																							uc001dcd.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(751-753)TGT>TTT		DnaJ (Hsp40) homolog, subfamily C, member 6							160.0	135.0	144.0					1																	65851517		2203	4300	6503	SO:0001583	missense	9829				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:65851517G>T	AB007942	CCDS30739.1, CCDS58004.1, CCDS58005.1	1p31.3	2011-09-02			ENSG00000116675	ENSG00000116675		"""Heat shock proteins / DNAJ (HSP40)"""	15469	protein-coding gene	gene with protein product	"""auxilin"""	608375				9455484, 11147971	Standard	NM_001256864		Approved	KIAA0473	uc001dce.2	O75061	OTTHUMG00000009066	ENST00000395325.3:c.752G>T	1.37:g.65851517G>T	ENSP00000378735:p.Cys251Phe					DNAJC6_uc001dcc.1_Missense_Mutation_p.C282F|DNAJC6_uc010opc.1_Missense_Mutation_p.C238F|DNAJC6_uc001dce.1_Missense_Mutation_p.C308F	p.C251F	NM_014787	NP_055602	O75061	AUXI_HUMAN			7	916	+			251			C2 tensin-type.		B7Z3V8|D3DQ65|D3DQ66|Q32M66|Q4G0K1|Q5T614|Q5T615	Missense_Mutation	SNP	ENST00000395325.3	37	c.752G>T	CCDS30739.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.342726	0.82022	.	.	ENSG00000116675	ENST00000263441;ENST00000395325;ENST00000371069	D;D;D	0.87571	-2.27;-2.27;-2.27	4.82	4.82	0.62117	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.93575	0.7949	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93443	0.6795	10	0.49607	T	0.09	.	18.0909	0.89475	0.0:0.0:1.0:0.0	.	308;251;238	O75061-2;O75061;D3DQ66	.;AUXI_HUMAN;.	F	238;251;308	ENSP00000263441:C238F;ENSP00000378735:C251F;ENSP00000360108:C308F	ENSP00000263441:C238F	C	+	2	0	DNAJC6	65624105	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.235000	0.95353	2.507000	0.84556	0.655000	0.94253	TGT		0.418	DNAJC6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025134.1			12	72	1	0	5.50884e-06	0.001368	6.74235e-06	12	72				
WDR78	79819	broad.mit.edu	37	1	67303405	67303405	+	Silent	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:67303405T>A	ENST00000371026.3	-	10	1624	c.1569A>T	c.(1567-1569)atA>atT	p.I523I	WDR78_ENST00000431318.1_Silent_p.I269I|WDR78_ENST00000371023.3_Silent_p.I523I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	523					hematopoietic progenitor cell differentiation (GO:0002244)			p.I523I(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TGGGATTCTTTATTGACCAGC	0.318																																							uc001dcx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1567-1569)ATA>ATT		WD repeat domain 78 isoform 1							71.0	69.0	70.0					1																	67303405		2203	4300	6503	SO:0001819	synonymous_variant	79819							g.chr1:67303405T>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1569A>T	1.37:g.67303405T>A						WDR78_uc001dcy.2_Silent_p.I523I|WDR78_uc009waw.2_Silent_p.I269I|WDR78_uc009wax.2_RNA	p.I523I	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN			10	1625	-			523					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Silent	SNP	ENST00000371026.3	37	c.1569A>T	CCDS635.1																																																																																				0.318	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		17	83	0	0	0	0.00499	0	17	83				
IL12RB2	3595	broad.mit.edu	37	1	67816592	67816592	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:67816592T>C	ENST00000262345.1	+	9	1718	c.1078T>C	c.(1078-1080)Tat>Cat	p.Y360H	IL12RB2_ENST00000544434.1_Missense_Mutation_p.Y360H|IL12RB2_ENST00000371000.1_Missense_Mutation_p.Y360H|IL12RB2_ENST00000541374.1_Missense_Mutation_p.Y360H	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	360	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)	p.Y360H(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						AATTCTCCACTATCAGGTGAC	0.473																																							uc001ddu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1078-1080)TAT>CAT		interleukin 12 receptor, beta 2 precursor							102.0	92.0	96.0					1																	67816592		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67816592T>C	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.1078T>C	1.37:g.67816592T>C	ENSP00000262345:p.Tyr360His					IL12RB2_uc010oqi.1_Missense_Mutation_p.Y360H|IL12RB2_uc010oqj.1_Missense_Mutation_p.Y360H|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Missense_Mutation_p.Y360H|IL12RB2_uc010oqm.1_Missense_Mutation_p.Y360H|IL12RB2_uc010oqn.1_RNA	p.Y360H	NM_001559	NP_001550	Q99665	I12R2_HUMAN			9	1718	+			360			Fibronectin type-III 3.|Extracellular (Potential).		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.1078T>C	CCDS638.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.448913	0.63178	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.18	5.36	5.36	0.76844	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88377	0.6420	M	0.86953	2.85	0.52099	D	0.999943	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.998	D	0.90161	0.4228	10	0.66056	D	0.02	-18.4575	12.054	0.53524	0.0:0.0:0.0:1.0	.	360;360;360;360	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	H	360	ENSP00000262345:Y360H;ENSP00000360039:Y360H;ENSP00000445276:Y360H;ENSP00000442443:Y360H	ENSP00000262345:Y360H	Y	+	1	0	IL12RB2	67589180	0.999000	0.42202	0.998000	0.56505	0.631000	0.37964	3.339000	0.52135	2.169000	0.68431	0.533000	0.62120	TAT		0.473	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		11	62	0	0	0	0.010729	0	11	62				
ZRANB2	9406	broad.mit.edu	37	1	71534972	71534972	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:71534972C>A	ENST00000370920.3	-	8	1058	c.757G>T	c.(757-759)Ggg>Tgg	p.G253W	ZRANB2-AS1_ENST00000426999.1_RNA|ZRANB2_ENST00000254821.6_Missense_Mutation_p.G253W|MIR186_ENST00000384988.1_RNA|ZRANB2_ENST00000477096.1_5'Flank|ZRANB2-AS1_ENST00000450461.1_RNA	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	253	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G253W(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						GATTTCGACCCACGAGATCTC	0.423																																							uc001dft.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(757-759)GGG>TGG		zinc finger protein 265 isoform 1							93.0	90.0	91.0					1																	71534972		2203	4300	6503	SO:0001583	missense	9406				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:71534972C>A	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.757G>T	1.37:g.71534972C>A	ENSP00000359958:p.Gly253Trp					ZRANB2_uc001dfs.2_Missense_Mutation_p.G253W|uc010oqr.1_5'Flank|MIR186_hsa-mir-186|MI0000483_5'Flank	p.G253W	NM_203350	NP_976225	O95218	ZRAB2_HUMAN			8	824	-			253			Arg/Ser-rich.|Required for nuclear targeting.		D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	ENST00000370920.3	37	c.757G>T	CCDS659.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279783	0.59758	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.65732	-0.17;-0.16	5.6	5.6	0.85130	.	0.373924	0.29459	N	0.012092	T	0.63438	0.2511	N	0.19112	0.55	0.53688	D	0.999971	D;D	0.89917	1.0;1.0	D;D	0.87578	0.979;0.998	T	0.68618	-0.5361	10	0.59425	D	0.04	.	19.6181	0.95643	0.0:1.0:0.0:0.0	.	253;253	O95218;O95218-2	ZRAB2_HUMAN;.	W	253	ENSP00000359958:G253W;ENSP00000254821:G253W	ENSP00000254821:G253W	G	-	1	0	ZRANB2	71307560	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.078000	0.57606	2.639000	0.89480	0.460000	0.39030	GGG		0.423	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350		29	82	1	0	1.16021e-09	0.007291	1.64797e-09	29	82				
DNAJB4	11080	broad.mit.edu	37	1	78479070	78479070	+	Missense_Mutation	SNP	C	C	G	rs141666453		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:78479070C>G	ENST00000370763.5	+	2	804	c.547C>G	c.(547-549)Cga>Gga	p.R183G	DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	183					protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)	p.R183G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GAAGATTTCTCGAAAAAGGCT	0.398																																							uc001dij.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(547-549)CGA>GGA		DnaJ (Hsp40) homolog, subfamily B, member 4		C	GLY/ARG	0,4406		0,0,2203	94.0	99.0	97.0		547	5.2	1.0	1	dbSNP_134	97	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAJB4	NM_007034.3	125	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	183/338	78479070	1,13005	2203	4300	6503	SO:0001583	missense	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78479070C>G	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.547C>G	1.37:g.78479070C>G	ENSP00000359799:p.Arg183Gly					DNAJB4_uc010orn.1_Missense_Mutation_p.R68G	p.R183G	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN			2	706	+			183					B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	c.547C>G	CCDS684.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017077	0.75161	0.0	1.16E-4	ENSG00000162616	ENST00000370763	D	0.84298	-1.83	5.22	5.22	0.72569	HSP40/DnaJ peptide-binding (1);	0.000000	0.85682	D	0.000000	D	0.92420	0.7594	M	0.94021	3.485	0.80722	D	1	D	0.62365	0.991	P	0.61874	0.895	D	0.94003	0.7277	10	0.87932	D	0	.	13.7607	0.62963	0.1537:0.8463:0.0:0.0	.	183	Q9UDY4	DNJB4_HUMAN	G	183	ENSP00000359799:R183G	ENSP00000359799:R183G	R	+	1	2	DNAJB4	78251658	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.820000	0.55693	2.416000	0.81992	0.650000	0.86243	CGA		0.398	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			29	85	0	0	0	0.010818	0	29	85				
TTLL7	79739	broad.mit.edu	37	1	84385411	84385411	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:84385411C>G	ENST00000260505.8	-	13	1848	c.1471G>C	c.(1471-1473)Gag>Cag	p.E491Q	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	491					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)	p.E491Q(1)		kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTATTCAACTCTCGCTGGAAT	0.348																																							uc001djc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1471-1473)GAG>CAG		tubulin tyrosine ligase-like family, member 7							54.0	56.0	55.0					1																	84385411		2203	4299	6502	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84385411C>G	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1471G>C	1.37:g.84385411C>G	ENSP00000260505:p.Glu491Gln					TTLL7_uc001djb.2_RNA|TTLL7_uc001djd.2_RNA|TTLL7_uc001dje.2_RNA|TTLL7_uc001djf.2_RNA|TTLL7_uc001djg.2_RNA	p.E491Q	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	13	1867	-			491					Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.1471G>C	CCDS690.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224634	0.79576	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.04317	3.65	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.10508	0.0257	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.64410	0.925	T	0.32134	-0.9918	10	0.18710	T	0.47	.	19.2716	0.94013	0.0:1.0:0.0:0.0	.	491	Q6ZT98	TTLL7_HUMAN	Q	491;268;491	ENSP00000260505:E491Q	ENSP00000260505:E491Q	E	-	1	0	TTLL7	84157999	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.550000	0.86006	0.585000	0.79938	GAG		0.348	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		12	80	0	0	0	0.001855	0	12	80				
SYDE2	84144	broad.mit.edu	37	1	85666082	85666082	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:85666082G>A	ENST00000341460.5	-	1	647	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	200					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.L122L(1)|p.L200L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AGGGACAGCAGACGCCCTTTG	0.607																																							uc009wcm.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(598-600)CTG>TTG		synapse defective 1, Rho GTPase, homolog 2							109.0	116.0	113.0					1																	85666082		1992	4154	6146	SO:0001819	synonymous_variant	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85666082G>A	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.598C>T	1.37:g.85666082G>A						SYDE2_uc001dku.3_Silent_p.L200L	p.L200L	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	1	647	-			200					Q5VT96|Q8NDB8|Q9H8A6	Silent	SNP	ENST00000341460.5	37	c.598C>T	CCDS44169.1																																																																																				0.607	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			12	166	0	0	0	0.00245	0	12	166				
GBP6	163351	broad.mit.edu	37	1	89849314	89849314	+	Splice_Site	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:89849314G>A	ENST00000370456.4	+	9	1561		c.e9+1		GBP6_ENST00000535065.1_Splice_Site	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6						cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.?(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GCAGTAGCAGGTATGGGGCAG	0.473																																							uc001dnf.2		NA																	1	Unknown(1)		lung(1)	ovary(2)	2						c.e9+1		guanylate binding protein family, member 6							78.0	78.0	78.0					1																	89849314		2203	4300	6503	SO:0001630	splice_region_variant	163351						GTP binding|GTPase activity	g.chr1:89849314G>A	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.1468+1G>A	1.37:g.89849314G>A						GBP6_uc010ost.1_Splice_Site_p.V360_splice	p.V490_splice	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0398)	9	1742	+		Lung NSC(277;0.0908)						A2RRM3|Q6ZN86|Q7Z3F0	Splice_Site	SNP	ENST00000370456.4	37	c.1468_splice	CCDS723.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836881	0.50951	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2076	0.82138	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GBP6	89621902	1.000000	0.71417	0.499000	0.27577	0.175000	0.22909	4.737000	0.62066	2.432000	0.82394	0.591000	0.81541	.		0.473	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028001.1	NM_198460	Intron	10	125	0	0	0	0.010729	0	10	125				
ZNF644	84146	broad.mit.edu	37	1	91405710	91405710	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:91405710T>A	ENST00000370440.1	-	3	1418	c.1201A>T	c.(1201-1203)Act>Tct	p.T401S	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.T401S|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	401					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T401S(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GTACTGAAAGTAGCAGGTGAC	0.393																																							uc001dnw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1201-1203)ACT>TCT		zinc finger protein 644 isoform 1							112.0	110.0	110.0					1																	91405710		2202	4300	6502	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91405710T>A	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1201A>T	1.37:g.91405710T>A	ENSP00000359469:p.Thr401Ser					ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.T401S	p.T401S	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1343	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	401					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.1201A>T	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502383	0.26949	.	.	ENSG00000122482	ENST00000370440;ENST00000337393	T;T	0.00588	6.37;6.37	5.58	3.15	0.36227	.	0.066942	0.64402	D	0.000008	T	0.00300	0.0009	L	0.43152	1.355	0.35569	D	0.805287	B	0.28055	0.199	B	0.27380	0.079	T	0.57934	-0.7725	10	0.56958	D	0.05	-5.5336	10.5209	0.44918	0.0:0.136:0.0:0.864	.	401	Q9H582	ZN644_HUMAN	S	401	ENSP00000359469:T401S;ENSP00000337008:T401S	ENSP00000337008:T401S	T	-	1	0	ZNF644	91178298	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	0.778000	0.26732	0.905000	0.36596	0.533000	0.62120	ACT		0.393	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		34	105	0	0	0	0.003271	0	34	105				
SASS6	163786	broad.mit.edu	37	1	100568609	100568609	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:100568609C>A	ENST00000287482.5	-	14	1716	c.1576G>T	c.(1576-1578)Ggg>Tgg	p.G526W	SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Missense_Mutation_p.G359W	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	526					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)		p.G526W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		TAACCAATCCCACAGGTTGGG	0.378																																							uc001dsu.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1576-1578)GGG>TGG		spindle assembly abnormal protein 6							83.0	81.0	82.0					1																	100568609		2203	4300	6503	SO:0001583	missense	163786				centriole replication	centriole		g.chr1:100568609C>A	AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1576G>T	1.37:g.100568609C>A	ENSP00000287482:p.Gly526Trp					SASS6_uc009wdz.2_Missense_Mutation_p.G359W	p.G526W	NM_194292	NP_919268	Q6UVJ0	SAS6_HUMAN		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)	14	1717	-		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	526					D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	c.1576G>T	CCDS764.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599410	0.66332	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.55930	0.57;0.49	4.52	4.52	0.55395	.	0.376074	0.27720	N	0.018139	T	0.45094	0.1325	L	0.51422	1.61	0.33012	D	0.527593	P	0.48911	0.917	P	0.48166	0.569	T	0.53180	-0.8475	10	0.72032	D	0.01	-3.17	15.5993	0.76611	0.0:1.0:0.0:0.0	.	526	Q6UVJ0	SAS6_HUMAN	W	526;499;359	ENSP00000287482:G526W;ENSP00000440169:G359W	ENSP00000287482:G526W	G	-	1	0	SASS6	100341197	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	4.308000	0.59129	2.505000	0.84491	0.549000	0.68633	GGG		0.378	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	NM_194292		24	52	1	0	2.70639e-06	0.002299	3.3838e-06	24	52				
AMY2B	280	broad.mit.edu	37	1	104114861	104114861	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:104114861A>G	ENST00000361355.4	+	4	914	c.298A>G	c.(298-300)Aga>Gga	p.R100G	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	100					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.R100G(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CATGGTGACTAGATGTAACAA	0.358																																							uc001duq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(298-300)AGA>GGA		amylase, pancreatic, alpha-2B precursor							120.0	126.0	124.0					1																	104114861		2203	4300	6503	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104114861A>G	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.298A>G	1.37:g.104114861A>G	ENSP00000354610:p.Arg100Gly					AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.R100G	p.R100G	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	4	914	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	100					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.298A>G	CCDS782.1	.	.	.	.	.	.	.	.	.	.	A	19.71	3.877582	0.72294	.	.	ENSG00000240038	ENST00000361355	D	0.98362	-4.89	4.65	4.65	0.58169	Glycoside hydrolase, subgroup, catalytic domain (1);Glycosyl hydrolase, family 13, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99266	0.9744	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98847	1.0757	10	0.87932	D	0	.	14.0847	0.64949	1.0:0.0:0.0:0.0	.	100	P19961	AMY2B_HUMAN	G	100	ENSP00000354610:R100G	ENSP00000354610:R100G	R	+	1	2	AMY2B	103916384	0.966000	0.33281	0.999000	0.59377	0.995000	0.86356	2.107000	0.41844	1.711000	0.51337	0.377000	0.23210	AGA		0.358	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		25	171	0	0	0	0.003954	0	25	171				
HENMT1	113802	broad.mit.edu	37	1	109191437	109191437	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:109191437G>T	ENST00000370032.5	-	8	1353	c.933C>A	c.(931-933)gtC>gtA	p.V311V	HENMT1_ENST00000493676.1_5'Flank|HENMT1_ENST00000402983.1_Silent_p.V311V|HENMT1_ENST00000370031.1_Silent_p.V342V	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	311					gene silencing by RNA (GO:0031047)|piRNA metabolic process (GO:0034587)|RNA methylation (GO:0001510)	P granule (GO:0043186)	metal ion binding (GO:0046872)|O-methyltransferase activity (GO:0008171)|RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.V311V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						CAAAGCATGGGACAGGGGCCT	0.512																																							uc001dvt.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(931-933)GTC>GTA		hypothetical protein LOC113802							110.0	101.0	104.0					1																	109191437		2203	4300	6503	SO:0001819	synonymous_variant	113802				gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity	g.chr1:109191437G>T		CCDS787.1	1p13.3	2011-01-28	2011-01-28	2011-01-28	ENSG00000162639	ENSG00000162639			26400	protein-coding gene	gene with protein product	"""HEN1 methyltransferase homolog (Arabidopsis)"""	612178	"""chromosome 1 open reading frame 59"""	C1orf59			Standard	NM_144584		Approved	FLJ30525, HEN1	uc001dvt.4	Q5T8I9	OTTHUMG00000011123	ENST00000370032.5:c.933C>A	1.37:g.109191437G>T						C1orf59_uc001dvu.3_Silent_p.V311V|C1orf59_uc009wer.2_3'UTR	p.V311V	NM_001102592	NP_001096062	Q5T8I9	HENMT_HUMAN		Colorectal(144;0.0152)|Lung(183;0.0895)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.163)	8	1171	-		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	311					A8MRR6|B1AM16|B1AM17|Q96EJ7|Q96NN0	Silent	SNP	ENST00000370032.5	37	c.933C>A	CCDS787.1																																																																																				0.512	HENMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030592.1	NM_144584		13	74	1	0	0.000219431	0.00245	0.000247661	13	74				
DRAM2	128338	broad.mit.edu	37	1	111663261	111663261	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:111663261C>A	ENST00000286692.4	-	6	1011	c.394G>T	c.(394-396)Ggc>Tgc	p.G132C	DRAM2_ENST00000484310.1_5'UTR|DRAM2_ENST00000539140.1_Missense_Mutation_p.G132C			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	132					apoptotic process (GO:0006915)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|microtubule cytoskeleton (GO:0015630)		p.G132C(1)		endometrium(1)|large_intestine(5)|lung(3)	9						TATAATGAGCCCATACCAAAG	0.403																																							uc001ead.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(394-396)GGC>TGC		transmembrane protein 77							128.0	117.0	121.0					1																	111663261		2203	4300	6503	SO:0001583	missense	128338				apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane		g.chr1:111663261C>A	AY336747	CCDS30801.1	1p13.3	2010-07-08	2009-06-12	2009-06-12	ENSG00000156171	ENSG00000156171			28769	protein-coding gene	gene with protein product		613360	"""transmembrane protein 77"""	TMEM77		12975309	Standard	NM_178454		Approved	MGC54289, PRO180, WWFQ154, RP5-1180E21.1	uc001ead.4	Q6UX65	OTTHUMG00000011911	ENST00000286692.4:c.394G>T	1.37:g.111663261C>A	ENSP00000286692:p.Gly132Cys					DRAM2_uc001eae.3_Missense_Mutation_p.G132C|DRAM2_uc009wfy.2_RNA|DRAM2_uc001eaf.3_Missense_Mutation_p.G2C	p.G132C	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN			6	651	-			132			Helical; (Potential).		B3SUG9|Q4VWF6|Q86VD3|Q8NBQ4	Missense_Mutation	SNP	ENST00000286692.4	37	c.394G>T	CCDS30801.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504487	0.85176	.	.	ENSG00000156171	ENST00000286692;ENST00000539140	D;D	0.85629	-2.01;-2.01	5.87	5.87	0.94306	.	0.048593	0.85682	D	0.000000	D	0.92848	0.7725	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93241	0.6626	10	0.87932	D	0	-22.412	16.0731	0.80948	0.0:1.0:0.0:0.0	.	132	Q6UX65	DRAM2_HUMAN	C	132	ENSP00000286692:G132C;ENSP00000437718:G132C	ENSP00000286692:G132C	G	-	1	0	DRAM2	111464784	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.840000	0.69402	2.941000	0.99782	0.655000	0.94253	GGC		0.403	DRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032930.3	NM_178454		12	44	1	0	4.3838e-07	0.001855	5.6924e-07	12	44				
CHIA	27159	broad.mit.edu	37	1	111861169	111861169	+	Missense_Mutation	SNP	G	G	A	rs367730751		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:111861169G>A	ENST00000369740.1	+	9	887	c.784G>A	c.(784-786)Gtt>Att	p.V262I	CHIA_ENST00000451398.2_Missense_Mutation_p.V101I|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000353665.6_Missense_Mutation_p.V101I|CHIA_ENST00000483391.1_Missense_Mutation_p.V101I|CHIA_ENST00000430615.1_Missense_Mutation_p.V154I|CHIA_ENST00000343320.6_Missense_Mutation_p.V262I	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	262					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.V154I(1)|p.V262I(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GAAGCTCATCGTTGGATTCCC	0.537																																							uc001eas.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(784-786)GTT>ATT		acidic chitinase isoform c		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	144.0	131.0	135.0		460,784	1.9	1.0	1		135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CHIA	NM_021797.2,NM_201653.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	154/369,262/477	111861169	1,13005	2203	4300	6503	SO:0001583	missense	27159				apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	g.chr1:111861169G>A	AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.784G>A	1.37:g.111861169G>A	ENSP00000358755:p.Val262Ile					CHIA_uc001ear.2_Missense_Mutation_p.V154I|CHIA_uc001eaq.2_Missense_Mutation_p.V154I|CHIA_uc009wgc.2_Missense_Mutation_p.V154I|CHIA_uc001eat.2_Missense_Mutation_p.V101I|CHIA_uc001eav.2_Missense_Mutation_p.V101I|CHIA_uc001eau.2_Missense_Mutation_p.V101I|CHIA_uc009wgd.2_Missense_Mutation_p.V101I	p.V262I	NM_201653	NP_970615	Q9BZP6	CHIA_HUMAN		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)	9	887	+		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)	262					Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	c.784G>A	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.259509	0.23051	0.0	1.16E-4	ENSG00000134216	ENST00000422815;ENST00000483391;ENST00000369740;ENST00000343320;ENST00000451398;ENST00000353665;ENST00000489524;ENST00000430615	T;T;T;T;T;T;T;T	0.06068	3.35;3.35;3.35;3.35;3.35;3.35;3.35;3.35	4.84	1.92	0.25849	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.099031	0.38778	U	0.001566	T	0.02156	0.0067	L	0.33189	0.99	0.34985	D	0.75441	B	0.25772	0.134	B	0.34991	0.193	T	0.42189	-0.9466	10	0.30078	T	0.28	-11.3615	8.0908	0.30799	0.2727:0.0:0.7273:0.0	.	262	Q9BZP6	CHIA_HUMAN	I	206;101;262;262;101;101;101;154	ENSP00000387671:V206I;ENSP00000436946:V101I;ENSP00000358755:V262I;ENSP00000341828:V262I;ENSP00000390476:V101I;ENSP00000338970:V101I;ENSP00000433309:V101I;ENSP00000391132:V154I	ENSP00000341828:V262I	V	+	1	0	CHIA	111662692	0.326000	0.24669	0.986000	0.45419	0.455000	0.32408	0.637000	0.24659	0.581000	0.29539	0.563000	0.77884	GTT		0.537	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			14	131	0	0	0	0.001855	0	14	131				
HAO2	51179	broad.mit.edu	37	1	119925580	119925580	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:119925580G>T	ENST00000325945.3	+	3	247	c.174G>T	c.(172-174)gtG>gtT	p.V58V	HAO2_ENST00000361035.4_Silent_p.V71V	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	58	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)	p.V58V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TGTCTGAGGTGGACACCAGAA	0.552																																							uc001ehq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(172-174)GTG>GTT		hydroxyacid oxidase 2							117.0	92.0	100.0					1																	119925580		2203	4300	6503	SO:0001819	synonymous_variant	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119925580G>T	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.174G>T	1.37:g.119925580G>T						HAO2_uc001ehr.1_Silent_p.V58V	p.V58V	NM_001005783	NP_001005783	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	4	526	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	58			FMN hydroxy acid dehydrogenase.		Q2TU86|Q5QP00|Q9UJS6	Silent	SNP	ENST00000325945.3	37	c.174G>T	CCDS901.1																																																																																				0.552	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783		9	49	1	0	1.08611e-07	0.010729	1.43895e-07	9	49				
NOTCH2	4853	broad.mit.edu	37	1	120459031	120459031	+	Missense_Mutation	SNP	C	C	A	rs587650529		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:120459031C>A	ENST00000256646.2	-	34	6533	c.6314G>T	c.(6313-6315)cGg>cTg	p.R2105L		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2105					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.R2105L(1)|p.R2105Q(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCACTGGGCCGTCTAGACTT	0.547			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																														uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(6313-6315)CGG>CTG		notch 2 preproprotein							111.0	91.0	98.0					1																	120459031		2203	4300	6503	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120459031C>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6314G>T	1.37:g.120459031C>A	ENSP00000256646:p.Arg2105Leu						p.R2105L	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	34	6570	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	2105			Cytoplasmic (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.6314G>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.051047	0.55218	.	.	ENSG00000134250	ENST00000256646	D	0.82984	-1.67	5.71	5.71	0.89125	.	0.000000	0.34777	U	0.003688	D	0.83367	0.5239	L	0.55990	1.75	0.54753	D	0.999983	D	0.64830	0.994	P	0.57911	0.829	D	0.85335	0.1092	10	0.72032	D	0.01	.	12.1217	0.53895	0.0:0.9138:0.0:0.0862	.	2105	Q04721	NOTC2_HUMAN	L	2105	ENSP00000256646:R2105L	ENSP00000256646:R2105L	R	-	2	0	NOTCH2	120260554	0.467000	0.25831	0.991000	0.47740	0.981000	0.71138	4.836000	0.62789	2.698000	0.92095	0.561000	0.74099	CGG		0.547	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		16	65	1	0	1.67942e-08	0.006122	2.29792e-08	16	65				
NOTCH2	4853	broad.mit.edu	37	1	120512153	120512153	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:120512153C>G	ENST00000256646.2	-	6	1308	c.1089G>C	c.(1087-1089)atG>atC	p.M363I		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	363	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.M363I(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTCTGGGCACATGCAAGAGA	0.557			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																														uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		1	Substitution - Missense(1)		lung(1)	lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(1087-1089)ATG>ATC		notch 2 preproprotein							95.0	69.0	78.0					1																	120512153		2203	4300	6503	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120512153C>G	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1089G>C	1.37:g.120512153C>G	ENSP00000256646:p.Met363Ile					NOTCH2_uc001eil.2_Missense_Mutation_p.M363I|NOTCH2_uc001eim.3_Missense_Mutation_p.M280I	p.M363I	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1345	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	363			Extracellular (Potential).|EGF-like 9; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.1089G>C	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.923556	0.33908	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.86627	-2.15	5.72	1.24	0.21308	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.933164	0.08788	U	0.893718	T	0.42337	0.1198	N	0.01464	-0.85	0.20307	N	0.999911	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.36504	-0.9745	10	0.37606	T	0.19	.	0.9729	0.01420	0.2586:0.3472:0.2175:0.1768	.	324;363;363	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	I	363;324	ENSP00000256646:M363I	ENSP00000256646:M363I	M	-	3	0	NOTCH2	120313676	0.000000	0.05858	1.000000	0.80357	0.993000	0.82548	-0.668000	0.05268	0.756000	0.33013	0.650000	0.86243	ATG		0.557	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		4	39	0	0	0	0.009096	0	4	39				
NOTCH2NL	388677	broad.mit.edu	37	1	145273425	145273425	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:145273425C>T	ENST00000369340.3	+	4	723	c.279C>T	c.(277-279)acC>acT	p.T93T	NOTCH2NL_ENST00000344859.3_Silent_p.T93T|NOTCH2NL_ENST00000362074.6_Silent_p.T93T|RP11-458D21.5_ENST00000468030.1_Silent_p.T93T			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	93	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T93T(4)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						ATGAGTGCACCTGTCAAGTCG	0.483																																							uc001emn.3		NA																	4	Substitution - coding silent(4)		lung(2)|endometrium(2)	ovary(1)	1						c.(277-279)ACC>ACT		Notch homolog 2 N-terminal like protein							296.0	301.0	299.0					1																	145273425		2203	4298	6501	SO:0001819	synonymous_variant	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145273425C>T		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.279C>T	1.37:g.145273425C>T						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.T93T|NOTCH2NL_uc001emo.2_Silent_p.T93T|NOTCH2NL_uc010oyh.1_RNA	p.T93T	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			3	649	+			93			EGF-like 3.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Silent	SNP	ENST00000369340.3	37	c.279C>T	CCDS909.1																																																																																				0.483	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		32	545	0	0	0	0.004878	0	32	545				
FMO5	2330	broad.mit.edu	37	1	146684991	146684991	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:146684991C>A	ENST00000254090.4	-	4	759	c.371G>T	c.(370-372)gGc>gTc	p.G124V	FMO5_ENST00000465173.1_5'UTR|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.G124V|FMO5_ENST00000369272.3_Missense_Mutation_p.G124V	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	124						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.G124V(2)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TTCCCATTGGCCTGAAGTGGC	0.473																																							uc001epi.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(370-372)GGC>GTC		flavin containing monooxygenase 5 isoform 1							272.0	253.0	259.0					1																	146684991		2203	4300	6503	SO:0001583	missense	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146684991C>A	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.371G>T	1.37:g.146684991C>A	ENSP00000254090:p.Gly124Val					FMO5_uc001eph.3_Missense_Mutation_p.G124V|FMO5_uc001epj.2_Missense_Mutation_p.G124V|FMO5_uc001epk.3_Missense_Mutation_p.G124V	p.G124V	NM_001461	NP_001452	P49326	FMO5_HUMAN			4	760	-	all_hematologic(923;0.0487)		124					B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	37	c.371G>T	CCDS926.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960795	0.92791	.	.	ENSG00000131781	ENST00000441068;ENST00000254090;ENST00000369272;ENST00000533174;ENST00000533848	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.84293	0.5440	M	0.91663	3.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.999;1.0;1.0	D	0.86781	0.1979	10	0.87932	D	0	-17.9626	17.8532	0.88754	0.0:1.0:0.0:0.0	.	124;124;124;124	Q9HA79;Q8IV22;P49326;C9JJD1	.;.;FMO5_HUMAN;.	V	124	ENSP00000416011:G124V;ENSP00000254090:G124V;ENSP00000358277:G124V;ENSP00000436429:G124V;ENSP00000432569:G124V	ENSP00000254090:G124V	G	-	2	0	FMO5	145151615	1.000000	0.71417	0.978000	0.43139	0.919000	0.55068	7.389000	0.79806	2.816000	0.96949	0.563000	0.77884	GGC		0.473	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461		10	337	1	0	2.74318e-10	0.006214	3.98314e-10	10	337				
RFX5	5993	broad.mit.edu	37	1	151314798	151314798	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:151314798C>T	ENST00000290524.4	-	11	1893	c.1715G>A	c.(1714-1716)aGa>aAa	p.R572K	RFX5_ENST00000452671.2_Missense_Mutation_p.R572K|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000368870.2_Missense_Mutation_p.R572K|RFX5_ENST00000452513.2_Missense_Mutation_p.R532K	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	572					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R572K(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			CTTTTGGCTTCTGCTGCCCTT	0.483																																							uc001exv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1714-1716)AGA>AAA		regulatory factor X, 5							133.0	125.0	127.0					1																	151314798		2203	4300	6503	SO:0001583	missense	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151314798C>T		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1715G>A	1.37:g.151314798C>T	ENSP00000290524:p.Arg572Lys					RFX5_uc001exw.1_Missense_Mutation_p.R572K|RFX5_uc009wmr.1_Missense_Mutation_p.R572K|RFX5_uc010pcx.1_Missense_Mutation_p.R532K	p.R572K	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		11	1929	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		572					B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	ENST00000290524.4	37	c.1715G>A	CCDS994.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328064	0.24080	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513;ENST00000392746	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	4.68	1.73	0.24493	.	0.245393	0.34959	N	0.003543	T	0.09642	0.0237	L	0.38531	1.155	0.30195	N	0.799155	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.23476	-1.0187	10	0.27082	T	0.32	-13.1271	6.807	0.23782	0.0:0.6974:0.0:0.3026	.	532;572	B7Z848;P48382	.;RFX5_HUMAN	K	572;572;572;532;572	ENSP00000290524:R572K;ENSP00000357864:R572K;ENSP00000389130:R572K;ENSP00000398388:R532K;ENSP00000376502:R572K	ENSP00000290524:R572K	R	-	2	0	RFX5	149581422	0.996000	0.38824	0.998000	0.56505	0.371000	0.29859	1.173000	0.31920	0.602000	0.29896	-0.229000	0.12294	AGA		0.483	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		8	189	0	0	0	0.004482	0	8	189				
RFX5	5993	broad.mit.edu	37	1	151314850	151314850	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:151314850C>T	ENST00000290524.4	-	11	1841	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	RFX5_ENST00000452671.2_Missense_Mutation_p.E555K|RP11-126K1.8_ENST00000422153.1_RNA|RFX5_ENST00000478564.1_5'Flank|RFX5_ENST00000368870.2_Missense_Mutation_p.E555K|RFX5_ENST00000452513.2_Missense_Mutation_p.E515K	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	555					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E555K(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			ATTTTATCTTCTGCTTCTTTG	0.532																																							uc001exv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1663-1665)GAA>AAA		regulatory factor X, 5							129.0	128.0	129.0					1																	151314850		2203	4300	6503	SO:0001583	missense	5993					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:151314850C>T		CCDS994.1	1q21	2014-09-17			ENSG00000143390	ENSG00000143390			9986	protein-coding gene	gene with protein product		601863				9401005	Standard	XM_005245405		Approved		uc001exw.1	P48382	OTTHUMG00000012495	ENST00000290524.4:c.1663G>A	1.37:g.151314850C>T	ENSP00000290524:p.Glu555Lys					RFX5_uc001exw.1_Missense_Mutation_p.E555K|RFX5_uc009wmr.1_Missense_Mutation_p.E555K|RFX5_uc010pcx.1_Missense_Mutation_p.E515K	p.E555K	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		11	1877	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		555					B7Z848|D3DV19|E9PFU4|Q5VWC3	Missense_Mutation	SNP	ENST00000290524.4	37	c.1663G>A	CCDS994.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700915	0.68501	.	.	ENSG00000143390	ENST00000290524;ENST00000368870;ENST00000452671;ENST00000452513;ENST00000392746	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	4.96	4.96	0.65561	.	0.376195	0.26019	N	0.026832	T	0.30727	0.0774	M	0.64997	1.995	0.33544	D	0.595267	P;P	0.50443	0.849;0.935	B;B	0.43194	0.396;0.411	T	0.31668	-0.9935	10	0.46703	T	0.11	-12.1913	13.5584	0.61773	0.0:1.0:0.0:0.0	.	515;555	B7Z848;P48382	.;RFX5_HUMAN	K	555;555;555;515;555	ENSP00000290524:E555K;ENSP00000357864:E555K;ENSP00000389130:E555K;ENSP00000398388:E515K;ENSP00000376502:E555K	ENSP00000290524:E555K	E	-	1	0	RFX5	149581474	0.993000	0.37304	1.000000	0.80357	0.980000	0.70556	3.463000	0.53050	2.583000	0.87209	0.591000	0.81541	GAA		0.532	RFX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034892.6	NM_000449		15	222	0	0	0	0.00245	0	15	222				
FLG	2312	broad.mit.edu	37	1	152280761	152280761	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:152280761C>A	ENST00000368799.1	-	3	6636	c.6601G>T	c.(6601-6603)Gat>Tat	p.D2201Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2201	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.D2201Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGAGCCATCTCCTGATTGT	0.552									Ichthyosis																														uc001ezu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6601-6603)GAT>TAT		filaggrin							450.0	391.0	411.0					1																	152280761		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280761C>A	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.6601G>T	1.37:g.152280761C>A	ENSP00000357789:p.Asp2201Tyr						p.D2201Y	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6637	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2201			Ser-rich.|Filaggrin 13.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6601G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	2.105	-0.405092	0.04832	.	.	ENSG00000143631	ENST00000368799	T	0.04706	3.57	2.46	1.52	0.23074	.	.	.	.	.	T	0.07548	0.0190	M	0.85099	2.735	0.09310	N	1	P	0.44690	0.841	P	0.55011	0.766	T	0.11179	-1.0598	9	0.52906	T	0.07	.	7.2188	0.25975	0.0:0.7211:0.2789:0.0	.	2201	P20930	FILA_HUMAN	Y	2201	ENSP00000357789:D2201Y	ENSP00000357789:D2201Y	D	-	1	0	FLG	150547385	0.005000	0.15991	0.002000	0.10522	0.003000	0.03518	0.480000	0.22244	0.385000	0.24970	-0.345000	0.07892	GAT		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		70	592	1	0	4.94307e-48	0.00361	8.9749e-48	70	592				
FLG2	388698	broad.mit.edu	37	1	152324299	152324299	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:152324299G>T	ENST00000388718.5	-	3	6035	c.5963C>A	c.(5962-5964)tCc>tAc	p.S1988Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1988					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S1988Y(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGAACTGAGGATCCTGACTC	0.527																																							uc001ezw.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(5962-5964)TCC>TAC		filaggrin family member 2							382.0	352.0	362.0					1																	152324299		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324299G>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.5963C>A	1.37:g.152324299G>T	ENSP00000373370:p.Ser1988Tyr					uc001ezv.2_Intron	p.S1988Y	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6036	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1988			Filaggrin 9.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5963C>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	g	8.239	0.806420	0.16467	.	.	ENSG00000143520	ENST00000388718	T	0.08634	3.07	2.81	1.88	0.25563	.	.	.	.	.	T	0.06645	0.0170	M	0.78049	2.395	0.09310	N	1	D	0.56968	0.978	P	0.49140	0.601	T	0.18524	-1.0334	9	0.48119	T	0.1	1.7558	5.7906	0.18359	0.1573:0.0:0.8427:0.0	.	1988	Q5D862	FILA2_HUMAN	Y	1988	ENSP00000373370:S1988Y	ENSP00000373370:S1988Y	S	-	2	0	FLG2	150590923	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.783000	0.26802	0.546000	0.28920	-0.373000	0.07131	TCC		0.527	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		149	404	1	0	1.55176e-64	0.00361	2.82729e-64	149	404				
CRNN	49860	broad.mit.edu	37	1	152382233	152382233	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:152382233C>A	ENST00000271835.3	-	3	1387	c.1325G>T	c.(1324-1326)tGg>tTg	p.W442L	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	442					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.W442L(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCATCAACCCATTCCTCACC	0.582																																							uc001ezx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1324-1326)TGG>TTG		cornulin							175.0	133.0	147.0					1																	152382233		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382233C>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1325G>T	1.37:g.152382233C>A	ENSP00000271835:p.Trp442Leu						p.W442L	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1399	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		442					B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1325G>T	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308248	0.81247	.	.	ENSG00000143536	ENST00000271835	T	0.24350	1.86	4.92	4.92	0.64577	.	0.000000	0.50627	D	0.000107	T	0.39009	0.1062	M	0.64170	1.965	0.37553	D	0.91878	D	0.89917	1.0	D	0.83275	0.996	T	0.28681	-1.0036	10	0.87932	D	0	.	13.4863	0.61369	0.0:1.0:0.0:0.0	.	442	Q9UBG3	CRNN_HUMAN	L	442	ENSP00000271835:W442L	ENSP00000271835:W442L	W	-	2	0	CRNN	150648857	1.000000	0.71417	0.999000	0.59377	0.298000	0.27526	2.330000	0.43885	2.536000	0.85505	0.650000	0.86243	TGG		0.582	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		26	72	1	0	2.79863e-10	0.004656	4.05239e-10	26	72				
KPRP	448834	broad.mit.edu	37	1	152733726	152733726	+	Silent	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:152733726G>C	ENST00000606109.1	+	1	1690	c.1662G>C	c.(1660-1662)cgG>cgC	p.R554R	KPRP_ENST00000368773.1_Silent_p.R554R			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	554						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.R554R(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCAGAGCGGAGGGGTCAGG	0.542																																							uc001fal.1		NA																	1	Substitution - coding silent(1)	p.R554Q(1)	lung(1)	ovary(4)|pancreas(1)	5						c.(1660-1662)CGG>CGC		keratinocyte proline-rich protein							77.0	71.0	73.0					1																	152733726		2203	4300	6503	SO:0001819	synonymous_variant	448834					cytoplasm		g.chr1:152733726G>C	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1662G>C	1.37:g.152733726G>C							p.R554R	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1720	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		554						Silent	SNP	ENST00000606109.1	37	c.1662G>C	CCDS30862.1																																																																																				0.542	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231		10	88	0	0	0	0.006214	0	10	88				
SPRR1B	6699	broad.mit.edu	37	1	153004868	153004868	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:153004868T>C	ENST00000307098.4	+	2	112	c.47T>C	c.(46-48)cTt>cCt	p.L16P	SPRR1B_ENST00000392661.3_Missense_Mutation_p.L16P	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	16	2 X 12 AA approximate repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.L16P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCCTCAGCTTCAGCAGCAG	0.572																																							uc001fba.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(46-48)CTT>CCT		small proline-rich protein 1B							142.0	139.0	140.0					1																	153004868		2203	4300	6503	SO:0001583	missense	6699				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:153004868T>C	M84757	CCDS30863.1	1q21-q22	2010-06-25	2010-06-25		ENSG00000169469	ENSG00000169469			11260	protein-coding gene	gene with protein product	"""cornifin"""	182266		SPRR1		8325635, 1438308	Standard	NM_003125		Approved	GADD33	uc001fba.3	P22528	OTTHUMG00000013869	ENST00000307098.4:c.47T>C	1.37:g.153004868T>C	ENSP00000306461:p.Leu16Pro					SPRR1B_uc009wnx.1_RNA	p.L16P	NM_003125	NP_003116	P22528	SPR1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	111	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		16			2 X 12 AA approximate repeats.		B2R5H7|P22529|P22530|Q5T524	Missense_Mutation	SNP	ENST00000307098.4	37	c.47T>C	CCDS30863.1	.	.	.	.	.	.	.	.	.	.	T	9.417	1.081964	0.20309	.	.	ENSG00000169469	ENST00000307098;ENST00000392661	T;T	0.13901	2.55;2.64	4.32	-0.901	0.10540	.	.	.	.	.	T	0.02119	0.0066	.	.	.	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.47535	-0.9110	8	0.21540	T	0.41	0.9884	7.7834	0.29078	0.0:0.3479:0.0:0.6521	.	16	P22528	SPR1B_HUMAN	P	16	ENSP00000306461:L16P;ENSP00000376429:L16P	ENSP00000306461:L16P	L	+	2	0	SPRR1B	151271492	0.026000	0.19158	0.006000	0.13384	0.962000	0.63368	0.067000	0.14510	-0.207000	0.10187	-0.290000	0.09829	CTT		0.572	SPRR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038906.1	NM_003125		32	155	0	0	0	0.003271	0	32	155				
SPRR2B	6701	broad.mit.edu	37	1	153043118	153043118	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:153043118C>A	ENST00000368755.2	-	1	198	c.198G>T	c.(196-198)aaG>aaT	p.K66N	SPRR2B_ENST00000368752.4_Missense_Mutation_p.K66N|SPRR2B_ENST00000341611.2_Missense_Mutation_p.K66N			P35325	SPR2B_HUMAN	small proline-rich protein 2B	66					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)		p.K66N(2)		endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCGGTGGATACTTTGGCTGGC	0.542																																							uc001fbg.2		NA																	2	Substitution - Missense(2)		large_intestine(1)|lung(1)		0						c.(196-198)AAG>AAT		small proline-rich protein 2B							251.0	222.0	232.0					1																	153043118		2203	4300	6503	SO:0001583	missense	6701				keratinization	cornified envelope|cytoplasm		g.chr1:153043118C>A	AF333952	CCDS30865.1	1q21-q22	2008-02-05			ENSG00000196805	ENSG00000196805			11262	protein-coding gene	gene with protein product		182268				8325635	Standard	NM_001017418		Approved		uc001fbg.3	P35325	OTTHUMG00000013863	ENST00000368755.2:c.198G>T	1.37:g.153043118C>A	ENSP00000357744:p.Lys66Asn					SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	p.K66N	NM_001017418	NP_001017418	P35325	SPR2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	261	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		66					Q5T528	Missense_Mutation	SNP	ENST00000368755.2	37	c.198G>T	CCDS30865.1	.	.	.	.	.	.	.	.	.	.	C	7.841	0.722012	0.15372	.	.	ENSG00000196805	ENST00000368755;ENST00000341611;ENST00000368752	T;T;T	0.36520	1.25;1.25;1.25	3.2	1.01	0.19927	.	0.000000	0.37219	N	0.002189	T	0.32436	0.0829	.	.	.	0.21984	N	0.999438	D	0.65815	0.995	D	0.63703	0.917	T	0.08066	-1.0740	9	0.87932	D	0	.	4.237	0.10630	0.2224:0.6363:0.0:0.1413	.	66	P35325	SPR2B_HUMAN	N	66	ENSP00000357744:K66N;ENSP00000340703:K66N;ENSP00000357741:K66N	ENSP00000340703:K66N	K	-	3	2	SPRR2B	151309742	0.299000	0.24426	0.979000	0.43373	0.009000	0.06853	0.703000	0.25646	0.437000	0.26423	0.455000	0.32223	AAG		0.542	SPRR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038905.2			68	193	1	0	3.54697e-40	0.00361	6.41774e-40	68	193				
CHRNB2	1141	broad.mit.edu	37	1	154544067	154544067	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:154544067C>T	ENST00000368476.3	+	5	1032	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	256					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|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)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.F256F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	TCCTTGTCTTCTACCTGCCAT	0.547																																							uc001ffg.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(766-768)TTC>TTT		neuronal nicotinic acetylcholine receptor beta 2	Nicotine(DB00184)						338.0	249.0	279.0					1																	154544067		2203	4300	6503	SO:0001819	synonymous_variant	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154544067C>T	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.768C>T	1.37:g.154544067C>T							p.F256F	NM_000748	NP_000739	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	1032	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		256			Helical; (Potential).		Q9UEH9	Silent	SNP	ENST00000368476.3	37	c.768C>T	CCDS1070.1																																																																																				0.547	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		35	179	0	0	0	0.002836	0	35	179				
DAP3	7818	broad.mit.edu	37	1	155697461	155697461	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:155697461G>C	ENST00000368336.5	+	7	659	c.535G>C	c.(535-537)Gat>Cat	p.D179H	MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.D179H|DAP3_ENST00000421487.2_Missense_Mutation_p.D145H|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471642.2_Missense_Mutation_p.D138H|DAP3_ENST00000535183.1_Missense_Mutation_p.D138H	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	179					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)	p.D179H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ACAGCGCTTTGATCAACCTTT	0.443																																							uc001flq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(535-537)GAT>CAT		death-associated protein 3							107.0	106.0	107.0					1																	155697461		2203	4300	6503	SO:0001583	missense	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155697461G>C	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.535G>C	1.37:g.155697461G>C	ENSP00000357320:p.Asp179His					DAP3_uc001flr.2_Missense_Mutation_p.D179H|DAP3_uc001fls.2_Missense_Mutation_p.D179H|DAP3_uc010pgl.1_Missense_Mutation_p.D138H|DAP3_uc001flt.2_Missense_Mutation_p.D145H|DAP3_uc001flu.2_Missense_Mutation_p.D179H|DAP3_uc010pgm.1_Missense_Mutation_p.D145H	p.D179H	NM_033657	NP_387506	P51398	RT29_HUMAN			7	704	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		179					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	ENST00000368336.5	37	c.535G>C	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188371	0.78789	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.48836	0.8;0.8;0.93;0.8	5.25	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.66665	0.2812	M	0.87381	2.88	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	0.75966	-0.3131	10	0.87932	D	0	-20.4296	15.7377	0.77859	0.0:0.1369:0.8631:0.0	.	138;145;145;179	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	H	179;179;145;138	ENSP00000357320:D179H;ENSP00000341692:D179H;ENSP00000412605:D145H;ENSP00000445003:D138H	ENSP00000341692:D179H	D	+	1	0	DAP3	153964085	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	8.306000	0.89962	1.424000	0.47217	0.585000	0.79938	GAT		0.443	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		6	134	0	0	0	0.001168	0	6	134				
SYT11	23208	broad.mit.edu	37	1	155851088	155851088	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:155851088C>A	ENST00000368324.4	+	4	1338	c.1085C>A	c.(1084-1086)tCt>tAt	p.S362Y	SYT11_ENST00000539162.1_Missense_Mutation_p.S55Y	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	362	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TTCAATGAATCTTTCATCTAC	0.488																																							uc001fmg.2		NA																	0				ovary(1)|skin(1)	2						c.(1084-1086)TCT>TAT		synaptotagmin XI							312.0	327.0	322.0					1																	155851088		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155851088C>A	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.1085C>A	1.37:g.155851088C>A	ENSP00000357307:p.Ser362Tyr					SYT11_uc010pgq.1_Missense_Mutation_p.S55Y	p.S362Y	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		4	1348	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		362			C2 2.|Cytoplasmic (Potential).		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.1085C>A	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986649	0.74589	.	.	ENSG00000132718	ENST00000368324;ENST00000539162	T;T	0.70164	-0.46;-0.46	5.17	5.17	0.71159	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.79197	0.4405	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81769	-0.0781	10	0.72032	D	0.01	.	11.8721	0.52527	0.0:0.9198:0.0:0.0802	.	362	Q9BT88	SYT11_HUMAN	Y	362;55	ENSP00000357307:S362Y;ENSP00000441657:S55Y	ENSP00000357307:S362Y	S	+	2	0	SYT11	154117712	0.996000	0.38824	0.993000	0.49108	0.909000	0.53808	3.235000	0.51328	2.691000	0.91804	0.655000	0.94253	TCT		0.488	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1	NM_152280		126	509	1	0	9.186e-65	0.00361	1.67661e-64	126	509				
KIAA0907	22889	broad.mit.edu	37	1	155887306	155887306	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:155887306C>T	ENST00000368321.3	-	11	1447	c.1424G>A	c.(1423-1425)gGa>gAa	p.G475E	KIAA0907_ENST00000368320.3_Missense_Mutation_p.G475E|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	475							RNA binding (GO:0003723)	p.G475E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TCCAAGCAGTCCAGATTCCCG	0.483																																							uc001fmi.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1423-1425)GGA>GAA		hypothetical protein LOC22889							146.0	163.0	158.0					1																	155887306		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155887306C>T	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1424G>A	1.37:g.155887306C>T	ENSP00000357304:p.Gly475Glu					KIAA0907_uc001fmj.1_Missense_Mutation_p.G475E|KIAA0907_uc009wrk.1_Missense_Mutation_p.G332E|KIAA0907_uc009wrl.1_RNA	p.G475E	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		11	1448	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		475					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1424G>A	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.087100	0.76642	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.26067	1.76;1.76	5.87	5.87	0.94306	.	0.104710	0.64402	D	0.000004	T	0.30008	0.0751	N	0.24115	0.695	0.80722	D	1	D;D	0.63046	0.992;0.992	D;P	0.65573	0.936;0.906	T	0.02885	-1.1098	10	0.49607	T	0.09	-9.7705	20.1777	0.98189	0.0:1.0:0.0:0.0	.	475;475	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	E	475	ENSP00000357304:G475E;ENSP00000357303:G475E	ENSP00000357303:G475E	G	-	2	0	KIAA0907	154153930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.674000	0.68117	2.941000	0.99782	0.655000	0.94253	GGA		0.483	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		7	367	0	0	0	0.004482	0	7	367				
NTRK1	4914	broad.mit.edu	37	1	156846229	156846230	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	TC	TC	-	-	TC	TC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:156846229_156846230TC>AT	ENST00000524377.1	+	14	1711_1712	c.1670_1671TC>AT	c.(1669-1671)tTC>tAT	p.F557Y	NTRK1_ENST00000368196.3_Missense_Mutation_p.F551Y|NTRK1_ENST00000392302.2_Missense_Mutation_p.F521Y|NTRK1_ENST00000358660.3_Missense_Mutation_p.F554Y	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	557	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F521Y(1)|p.F557Y(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CGGCAGGACTTCCAGCGTGAGG	0.644			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																													uc001fqh.1		NA		Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		2	Substitution - Missense(2)		lung(2)	lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(1669-1671)TTC>TAT		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)																																			SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156846229_156846230TC>AT	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	Exception_encountered	1.37:g.156846229_156846230delinsAT	ENSP00000431418:p.Phe557Tyr	TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Missense_Mutation_p.F521Y|NTRK1_uc009wsi.1_Missense_Mutation_p.F256Y|NTRK1_uc001fqi.1_Missense_Mutation_p.F551Y|NTRK1_uc009wsk.1_Missense_Mutation_p.F554Y	p.F557Y	NM_002529	NP_002520	P04629	NTRK1_HUMAN			14	1726_1727	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		557			Cytoplasmic (Potential).|Protein kinase.		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	DNP	ENST00000524377.1	37	c.1670_1671TC>AT	CCDS1161.1																																																																																				0.644	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		6	47	0	0	0	0.004672	0	6	47				
FCRL5	83416	broad.mit.edu	37	1	157497603	157497603	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:157497603C>A	ENST00000361835.3	-	9	1921	c.1764G>T	c.(1762-1764)gaG>gaT	p.E588D	FCRL5_ENST00000368190.3_Missense_Mutation_p.E588D|FCRL5_ENST00000356953.4_Missense_Mutation_p.E588D|FCRL5_ENST00000368191.3_Missense_Mutation_p.E503D	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	588	Ig-like C2-type 6.				negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)		p.E588D(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTCTCGGGGCCTCACAGTGAA	0.592																																							uc001fqu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)	6						c.(1762-1764)GAG>GAT		Fc receptor-like 5							48.0	53.0	51.0					1																	157497603		2203	4300	6503	SO:0001583	missense	83416					integral to membrane|plasma membrane	receptor activity	g.chr1:157497603C>A	AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.1764G>T	1.37:g.157497603C>A	ENSP00000354691:p.Glu588Asp					FCRL5_uc009wsm.2_Missense_Mutation_p.E588D|FCRL5_uc010phv.1_Missense_Mutation_p.E588D|FCRL5_uc010phw.1_Missense_Mutation_p.E503D	p.E588D	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN			9	1922	-	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)	588			Extracellular (Potential).|Ig-like C2-type 6.		A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	ENST00000361835.3	37	c.1764G>T	CCDS1165.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641648	0.29157	.	.	ENSG00000143297	ENST00000361835;ENST00000356953;ENST00000368190;ENST00000368191	T;T;T;T	0.03358	3.96;3.96;3.96;3.96	3.53	-0.666	0.11399	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.324094	0.22255	N	0.062491	T	0.07052	0.0179	M	0.93375	3.41	0.27928	N	0.937972	D;D;D;D	0.64830	0.994;0.973;0.989;0.976	D;P;P;P	0.68353	0.957;0.906;0.89;0.89	T	0.10497	-1.0627	10	0.27082	T	0.32	.	2.7048	0.05159	0.2081:0.4287:0.0:0.3633	.	503;588;588;588	F5GXJ2;Q96RD9-3;A6NJE8;Q96RD9	.;.;.;FCRL5_HUMAN	D	588;588;588;503	ENSP00000354691:E588D;ENSP00000349434:E588D;ENSP00000357173:E588D;ENSP00000357174:E503D	ENSP00000349434:E588D	E	-	3	2	FCRL5	155764227	0.166000	0.22962	0.363000	0.25875	0.107000	0.19398	0.055000	0.14229	-0.004000	0.14419	-0.157000	0.13467	GAG		0.592	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046263.1	NM_031281		5	107	1	0	0.000602214	0.000602	0.000659027	5	107				
OR10T2	128360	broad.mit.edu	37	1	158368994	158368994	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:158368994G>T	ENST00000334438.1	-	1	262	c.263C>A	c.(262-264)tCa>tAa	p.S88*		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S88*(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CTTGGTGTCTGAGAGCAGGTG	0.493																																							uc010pih.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(262-264)TCA>TAA		olfactory receptor, family 10, subfamily T,							104.0	103.0	103.0					1																	158368994		2203	4300	6503	SO:0001587	stop_gained	128360				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158368994G>T	AB065643	CCDS30895.1	1q23.1	2012-08-09			ENSG00000186306	ENSG00000186306		"""GPCR / Class A : Olfactory receptors"""	14816	protein-coding gene	gene with protein product							Standard	NM_001004475		Approved		uc010pih.2	Q8NGX3	OTTHUMG00000017521	ENST00000334438.1:c.263C>A	1.37:g.158368994G>T	ENSP00000334115:p.Ser88*						p.S88*	NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN			1	263	-	all_hematologic(112;0.0378)		88			Extracellular (Potential).		Q6IF98	Nonsense_Mutation	SNP	ENST00000334438.1	37	c.263C>A	CCDS30895.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803661	0.50315	.	.	ENSG00000186306	ENST00000334438	.	.	.	4.56	3.64	0.41730	.	0.000000	0.33127	U	0.005257	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.708	0.69206	0.081:0.0:0.919:0.0	.	.	.	.	X	88	.	ENSP00000334115:S88X	S	-	2	0	OR10T2	156635618	0.000000	0.05858	0.163000	0.22734	0.565000	0.35776	0.226000	0.17776	0.548000	0.28955	-0.813000	0.03139	TCA		0.493	OR10T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046371.1	NM_001004475		16	40	1	0	1.3612e-06	0.003163	1.72463e-06	16	40				
SPTA1	6708	broad.mit.edu	37	1	158612255	158612255	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:158612255C>A	ENST00000368147.4	-	33	4863	c.4683G>T	c.(4681-4683)ctG>ctT	p.L1561L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1561					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.L1561L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGGAGTTCCCCAGGTTGATGA	0.478																																							uc001fst.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4681-4683)CTG>CTT		spectrin, alpha, erythrocytic 1							102.0	102.0	102.0					1																	158612255		1985	4171	6156	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158612255C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4683G>T	1.37:g.158612255C>A							p.L1561L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			33	4882	-	all_hematologic(112;0.0378)		1561			Spectrin 15.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.4683G>T	CCDS41423.1																																																																																				0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		11	138	1	0	3.07112e-06	0.010729	3.81242e-06	11	138				
SPTA1	6708	broad.mit.edu	37	1	158612641	158612641	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:158612641G>A	ENST00000368147.4	-	32	4748	c.4568C>T	c.(4567-4569)gCc>gTc	p.A1523V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1523					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A1523V(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCATCACAGGCTGTGGGCAG	0.443																																							uc001fst.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(4567-4569)GCC>GTC		spectrin, alpha, erythrocytic 1							197.0	188.0	191.0					1																	158612641		2005	4163	6168	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158612641G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4568C>T	1.37:g.158612641G>A	ENSP00000357129:p.Ala1523Val						p.A1523V	NM_003126	NP_003117	P02549	SPTA1_HUMAN			32	4767	-	all_hematologic(112;0.0378)		1523			Spectrin 15.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4568C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	34	5.294898	0.95546	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.48836	0.8;0.8	5.2	5.2	0.72013	.	0.000000	0.32120	N	0.006555	T	0.66025	0.2748	M	0.84846	2.72	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.64563	-0.6378	10	0.33141	T	0.24	.	17.4847	0.87684	0.0:0.0:1.0:0.0	.	1523	P02549	SPTA1_HUMAN	V	1523	ENSP00000357130:A1523V;ENSP00000357129:A1523V	ENSP00000357129:A1523V	A	-	2	0	SPTA1	156879265	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.025000	0.93694	2.711000	0.92665	0.655000	0.94253	GCC		0.443	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		12	213	0	0	0	0.001855	0	12	213				
SPTA1	6708	broad.mit.edu	37	1	158623069	158623069	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:158623069C>T	ENST00000368147.4	-	22	3363	c.3183G>A	c.(3181-3183)gaG>gaA	p.E1061E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1061					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTACTGGTTCTCAATCTGCT	0.507																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3181-3183)GAG>GAA		spectrin, alpha, erythrocytic 1							119.0	123.0	121.0					1																	158623069		1956	4147	6103	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158623069C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3183G>A	1.37:g.158623069C>T							p.E1061E	NM_003126	NP_003117	P02549	SPTA1_HUMAN			22	3382	-	all_hematologic(112;0.0378)		1061					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.3183G>A	CCDS41423.1																																																																																				0.507	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	212	0	0	0	0.00308	0	6	212				
SPTA1	6708	broad.mit.edu	37	1	158637767	158637767	+	Missense_Mutation	SNP	A	A	G	rs569603972		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:158637767A>G	ENST00000368147.4	-	15	2099	c.1919T>C	c.(1918-1920)aTa>aCa	p.I640T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	640					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.I640T(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTTTTCTGTATGTTTTCCAG	0.463																																							uc001fst.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1918-1920)ATA>ACA		spectrin, alpha, erythrocytic 1							175.0	169.0	171.0					1																	158637767		1865	4101	5966	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158637767A>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1919T>C	1.37:g.158637767A>G	ENSP00000357129:p.Ile640Thr						p.I640T	NM_003126	NP_003117	P02549	SPTA1_HUMAN			15	2118	-	all_hematologic(112;0.0378)		640			Spectrin 7.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1919T>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.601642	0.28534	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.56611	0.45;0.45	4.95	4.95	0.65309	.	1.331230	0.05978	N	0.643634	T	0.60869	0.2302	M	0.67569	2.06	0.18873	N	0.999988	P	0.35050	0.482	P	0.54100	0.742	T	0.61187	-0.7113	10	0.72032	D	0.01	.	13.6072	0.62054	1.0:0.0:0.0:0.0	.	640	P02549	SPTA1_HUMAN	T	640	ENSP00000357130:I640T;ENSP00000357129:I640T	ENSP00000357129:I640T	I	-	2	0	SPTA1	156904391	0.989000	0.36119	0.002000	0.10522	0.141000	0.21300	7.895000	0.87343	2.080000	0.62538	0.528000	0.53228	ATA		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		27	174	0	0	0	0.004656	0	27	174				
OR6K3	391114	broad.mit.edu	37	1	158687521	158687521	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:158687521G>T	ENST00000368146.1	-	1	432	c.433C>A	c.(433-435)Cct>Act	p.P145T	OR6K3_ENST00000368145.1_Missense_Mutation_p.P129T			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P145T(1)		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)					TAGCGAAGAGGGTTGCAGATG	0.502																																							uc010pip.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(433-435)CCT>ACT		olfactory receptor, family 6, subfamily K,							104.0	111.0	109.0					1																	158687521		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687521G>T	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.433C>A	1.37:g.158687521G>T	ENSP00000357128:p.Pro145Thr						p.P145T	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	433	-	all_hematologic(112;0.0378)		145			Cytoplasmic (Potential).		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.433C>A		.	.	.	.	.	.	.	.	.	.	G	21.2	4.113505	0.77210	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.01887	4.58;4.58	4.03	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17152	0.0412	H	0.98682	4.3	0.44852	D	0.99786	D	0.89917	1.0	D	0.80764	0.994	T	0.38112	-0.9676	9	0.87932	D	0	.	15.4409	0.75181	0.0:0.0:1.0:0.0	.	145	Q8NGY3	OR6K3_HUMAN	T	129;145	ENSP00000357127:P129T;ENSP00000357128:P145T	ENSP00000357127:P129T	P	-	1	0	OR6K3	156954145	1.000000	0.71417	0.030000	0.17652	0.977000	0.68977	5.140000	0.64807	2.221000	0.72209	0.404000	0.27445	CCT		0.502	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				15	143	1	0	4.93089e-13	0.00245	7.60391e-13	15	143				
ACKR1	2532	broad.mit.edu	37	1	159175730	159175730	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:159175730G>T	ENST00000368122.2	+	2	1180	c.501G>T	c.(499-501)ctG>ctT	p.L167L	CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_Silent_p.L167L|DARC_ENST00000368121.2_Silent_p.L169L	NM_002036.3	NP_002027.2	Q16570	ACKR1_HUMAN		167					chemokine-mediated signaling pathway (GO:0070098)|defense response (GO:0006952)|inflammatory response (GO:0006954)|regulation of chemokine production (GO:0032642)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-C chemokine binding (GO:0019957)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.L169L(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GCCTCACCCTGGGGCTCACTG	0.622																																							uc001fto.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(499-501)CTG>CTT		Duffy blood group antigen isoform b							36.0	31.0	33.0					1																	159175730		2203	4300	6503	SO:0001819	synonymous_variant	2532				defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	g.chr1:159175730G>T																												ENST00000368122.2:c.501G>T	1.37:g.159175730G>T						DARC_uc001ftp.3_Silent_p.L169L	p.L167L	NM_002036	NP_002027	Q16570	DUFFY_HUMAN			2	741	+	all_hematologic(112;0.0429)		167			Helical; Name=4; (Potential).		A8YPG5|O75898|Q16300|Q8WWE3|Q9UJP0|Q9UKZ5|Q9UKZ6|Q9UQE1	Silent	SNP	ENST00000368122.2	37	c.501G>T	CCDS1183.1																																																																																				0.622	DARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090338.2			6	21	1	0	0.000157383	0.00308	0.000178208	6	21				
KCNJ10	3766	broad.mit.edu	37	1	160011198	160011198	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:160011198G>T	ENST00000368089.3	-	2	1351	c.1125C>A	c.(1123-1125)cgC>cgA	p.R375R	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	375					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)	p.R375R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	CATTGCTGATGCGCACACTAA	0.527																																					GBM(167;1368 2014 14817 36425 43215)	GBM(167;1368 2014 14817 36425 43215)	uc001fuw.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1123-1125)CGC>CGA		potassium inwardly-rectifying channel, subfamily							93.0	70.0	78.0					1																	160011198		2203	4300	6503	SO:0001819	synonymous_variant	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160011198G>T	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.1125C>A	1.37:g.160011198G>T							p.R375R	NM_002241	NP_002232	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	1275	-	all_hematologic(112;0.093)		375			Cytoplasmic (By similarity).		A3KME7|Q5VUT9|Q8N4I7|Q92808	Silent	SNP	ENST00000368089.3	37	c.1125C>A	CCDS1193.1																																																																																				0.527	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		8	26	1	0	0.00307968	0.00308	0.00330101	8	26				
DCAF8	50717	broad.mit.edu	37	1	160209744	160209744	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:160209744G>A	ENST00000368073.3	-	4	900	c.466C>T	c.(466-468)Cct>Tct	p.P156S	DCAF8_ENST00000475733.1_Missense_Mutation_p.P156S|DCAF8_ENST00000610139.1_Missense_Mutation_p.P156S|DCAF8_ENST00000326837.2_Missense_Mutation_p.P156S|DCAF8_ENST00000368074.1_Missense_Mutation_p.P156S|DCAF8_ENST00000608310.1_Missense_Mutation_p.P310S|DCAF8_ENST00000556710.1_Missense_Mutation_p.P310S			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	156					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P310S(1)|p.P156S(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						CGAAGGGCAGGGAGGGCTTGC	0.612																																							uc001fvo.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(466-468)CCT>TCT		DDB1 and CUL4 associated factor 8							55.0	57.0	56.0					1																	160209744		2203	4300	6503	SO:0001583	missense	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160209744G>A	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.466C>T	1.37:g.160209744G>A	ENSP00000357052:p.Pro156Ser					DCAF8_uc001fvn.2_Missense_Mutation_p.P156S|DCAF8_uc009wth.2_Missense_Mutation_p.P156S|DCAF8_uc010pjb.1_Missense_Mutation_p.P156S|DCAF8_uc010pjc.1_Missense_Mutation_p.P310S|DCAF8_uc001fvq.3_Missense_Mutation_p.P156S|DCAF8_uc001fvp.3_Missense_Mutation_p.P156S|uc010pjd.1_3'UTR	p.P156S	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN			4	778	-			156					D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	c.466C>T	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985639	0.53934	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000447377;ENST00000556710	T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.1;-0.1	5.03	4.05	0.47172	.	0.077999	0.52532	U	0.000073	T	0.31796	0.0808	N	0.16903	0.455	0.47511	D	0.999448	P;B;B	0.36535	0.557;0.012;0.002	B;B;B	0.33750	0.169;0.027;0.004	T	0.24548	-1.0157	10	0.18276	T	0.48	-1.5079	13.8252	0.63346	0.0:0.1544:0.8456:0.0	.	310;156;156	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	S	156;156;156;310;137;156;310	ENSP00000357052:P156S;ENSP00000318227:P156S;ENSP00000357053:P156S;ENSP00000451989:P310S;ENSP00000451235:P310S	ENSP00000318227:P156S	P	-	1	0	RP11-574F21.3;DCAF8	158476368	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.285000	0.51716	2.328000	0.79073	0.650000	0.86243	CCT		0.612	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		16	61	0	0	0	0.008871	0	16	61				
TOMM40L	84134	broad.mit.edu	37	1	161198067	161198067	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:161198067G>T	ENST00000367988.3	+	7	845	c.576G>T	c.(574-576)ggG>ggT	p.G192G	TOMM40L_ENST00000474486.1_3'UTR|NR1I3_ENST00000479324.1_5'Flank|TOMM40L_ENST00000545897.1_Silent_p.G158G|TOMM40L_ENST00000367987.1_Silent_p.G192G|MIR5187_ENST00000583479.1_RNA	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	192					ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)	p.G192G(1)		large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCGAAGAGGGGGCCATCTTGA	0.597											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001fzd.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(574-576)GGG>GGT		translocase of outer mitochondrial membrane 40							45.0	45.0	45.0					1																	161198067		2203	4300	6503	SO:0001819	synonymous_variant	84134				protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity	g.chr1:161198067G>T		CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.576G>T	1.37:g.161198067G>T			OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1814	TOMM40L_uc010pkl.1_Silent_p.G158G|TOMM40L_uc009wue.2_Silent_p.G74G|TOMM40L_uc009wuf.1_RNA|TOMM40L_uc001fze.2_Silent_p.G192G	p.G192G	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	805	+	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		192					B7Z4U0|D3DVG9	Silent	SNP	ENST00000367988.3	37	c.576G>T	CCDS1227.1																																																																																				0.597	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	NM_032174		15	68	1	0	2.31682e-05	0.003163	2.75172e-05	15	68				
FCGR3A	2214	broad.mit.edu	37	1	161519571	161519571	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:161519571C>A	ENST00000436743.1	-	0	110				RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000476031.1_5'Flank|FCGR3A_ENST00000443193.1_Missense_Mutation_p.G22W|FCGR3A_ENST00000367969.3_Missense_Mutation_p.G22W|FCGR3A_ENST00000540048.1_Intron	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G22W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCCGGAGCCCTAAAGGGACC	0.522																																							uc001gat.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.e2-1		Fc fragment of IgG, low affinity IIIa, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						132.0	121.0	125.0					1																	161519571		2203	4300	6503			2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161519571C>A	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.-45G>T	1.37:g.161519571C>A						FCGR3A_uc001gar.2_Missense_Mutation_p.G22W|FCGR3A_uc001gas.2_Missense_Mutation_p.G22W|FCGR3A_uc009wuh.2_Splice_Site|FCGR3A_uc009wui.2_Translation_Start_Site		NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	94	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)							A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Splice_Site	SNP	ENST00000436743.1	37	c.-43_splice	CCDS44266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.225|4.225	0.040665|0.040665	0.08196|0.08196	.|.	.|.	ENSG00000203747|ENSG00000203747	ENST00000367969;ENST00000443193|ENST00000426740	T;T|.	0.02085|.	4.46;4.47|.	4.32|4.32	2.27|2.27	0.28462|0.28462	.|.	.|.	.|.	.|.	.|.	T|.	0.09468|.	0.0233|.	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	0.999995|0.999995	D|.	0.69078|.	0.997|.	D|.	0.64042|.	0.921|.	T|.	0.24728|.	-1.0152|.	9|.	0.66056|.	D|.	0.02|.	.|.	4.6989|4.6989	0.12818|0.12818	0.2144:0.6737:0.0:0.1119|0.2144:0.6737:0.0:0.1119	.|.	22|.	E9PG94|.	.|.	W|Y	22|3	ENSP00000356946:G22W;ENSP00000392047:G22W|.	ENSP00000356946:G22W|.	G|X	-|-	1|3	0|2	FCGR3A|FCGR3A	159786195|159786195	0.001000|0.001000	0.12720|0.12720	0.003000|0.003000	0.11579|0.11579	0.006000|0.006000	0.05464|0.05464	0.883000|0.883000	0.28200|0.28200	1.149000|1.149000	0.42402|0.42402	0.591000|0.591000	0.81541|0.81541	GGG|TAG		0.522	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569		10	57	1	0	2.17888e-05	0.006214	2.60269e-05	10	57				
FCGR3A	2214	broad.mit.edu	37	1	161596073	161596073	+	Intron	SNP	C	C	G	rs563492801	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:161596073C>G	ENST00000540048.1	-	2	94				FCGR3B_ENST00000531221.1_Missense_Mutation_p.D183H|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3B_ENST00000294800.3_Missense_Mutation_p.D147H|FCGR3B_ENST00000367964.2_Missense_Mutation_p.D147H|FCGR2B_ENST00000367960.5_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D147H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TACTTCCTGTCTTTGCCATTC	0.463																																							uc009wul.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(439-441)GAC>CAC		low affinity immunoglobulin gamma Fc region	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						147.0	144.0	145.0					1																	161596073		2193	4299	6492	SO:0001627	intron_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161596073C>G	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+4084G>C	1.37:g.161596073C>G							p.D147H	NM_000570	NP_000561	O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	713	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		147			Ig-like C2-type 2.		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37	c.439G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	7.590|7.590	0.670500|0.670500	0.14776|0.14776	.|.	.|.	ENSG00000162747|ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221|ENST00000421702	T;T;T|.	0.12147|.	2.71;2.71;2.71|.	2.35|2.35	1.34|1.34	0.21922|0.21922	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);|.	6.555110|.	0.00166|.	N|.	0.000000|.	T|T	0.04861|0.04861	0.0131|0.0131	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	B|.	0.22211|.	0.066|.	B|.	0.11329|.	0.006|.	T|T	0.42327|0.42327	-0.9458|-0.9458	10|5	0.72032|.	D|.	0.01|.	.|.	6.7069|6.7069	0.23257|0.23257	0.0:0.7017:0.2982:0.0|0.0:0.7017:0.2982:0.0	.|.	147|.	O75015|.	FCG3B_HUMAN|.	H|T	147;147;183|167	ENSP00000356941:D147H;ENSP00000294800:D147H;ENSP00000433642:D183H|.	ENSP00000294800:D147H|.	D|R	-|-	1|2	0|0	FCGR3B|FCGR3B	159862697|159862697	0.000000|0.000000	0.05858|0.05858	0.070000|0.070000	0.20053|0.20053	0.062000|0.062000	0.15995|0.15995	-0.901000|-0.901000	0.04093|0.04093	0.272000|0.272000	0.22027|0.22027	0.184000|0.184000	0.17185|0.17185	GAC|AGA		0.463	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		8	66	0	0	0	0.004482	0	8	66				
FCGR3A	2214	broad.mit.edu	37	1	161599655	161599655	+	Intron	SNP	C	C	T	rs201152581	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:161599655C>T	ENST00000540048.1	-	2	94				FCGR3B_ENST00000531221.1_Missense_Mutation_p.A114T|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR3B_ENST00000294800.3_Missense_Mutation_p.A78T|FCGR3B_ENST00000367964.2_Missense_Mutation_p.A78T|FCGR2B_ENST00000367960.5_Intron			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A78S(1)|p.A78T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACTGTGGCAGCGTCAATGAAG	0.532													C|||	7	0.00139776	0.0053	0.0	5008	,	,		9921	0.0		0.0	False		,,,				2504	0.0						uc009wul.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(232-234)GCT>ACT		low affinity immunoglobulin gamma Fc region	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	C	THR/ALA	40,4286		7,26,2130	88.0	98.0	95.0		232	-2.2	0.0	1		95	1,8597		0,1,4298	no	missense	FCGR3B	NM_000570.4	58	7,27,6428	TT,TC,CC		0.0116,0.9246,0.3172	possibly-damaging	78/234	161599655	41,12883	2163	4299	6462	SO:0001627	intron_variant	2215				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	g.chr1:161599655C>T	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+502G>A	1.37:g.161599655C>T							p.A78T	NM_000570	NP_000561	O75015	FCG3B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	506	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		78			Ig-like C2-type 1.		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Missense_Mutation	SNP	ENST00000540048.1	37	c.232G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.390|8.390	0.839572|0.839572	0.16891|0.16891	0.009246|0.009246	1.16E-4|1.16E-4	ENSG00000162747|ENSG00000162747	ENST00000367964;ENST00000294800;ENST00000531221;ENST00000534776|ENST00000421702	T;T;T;T|.	0.08193|.	3.12;3.12;3.12;3.12|.	2.79|2.79	-2.22|-2.22	0.06952|0.06952	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	2.831670|.	0.01069|.	N|.	0.004789|.	T|T	0.14570|0.14570	0.0352|0.0352	L|L	0.48260|0.48260	1.515|1.515	0.09310|0.09310	N|N	1|1	B|.	0.14805|.	0.011|.	B|.	0.04013|.	0.001|.	T|T	0.32798|0.32798	-0.9893|-0.9893	10|5	0.34782|.	T|.	0.22|.	.|.	2.7747|2.7747	0.05344|0.05344	0.2073:0.3627:0.0:0.43|0.2073:0.3627:0.0:0.43	.|.	78|.	O75015|.	FCG3B_HUMAN|.	T|H	78;78;114;61|98	ENSP00000356941:A78T;ENSP00000294800:A78T;ENSP00000433642:A114T;ENSP00000437084:A61T|.	ENSP00000294800:A78T|.	A|R	-|-	1|2	0|0	FCGR3B|FCGR3B	159866279|159866279	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-1.266000|-1.266000	0.02842|0.02842	-0.664000|-0.664000	0.05324|0.05324	0.388000|0.388000	0.25769|0.25769	GCT|CGC		0.532	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		8	156	0	0	0	0.008291	0	8	156				
FMO3	2328	broad.mit.edu	37	1	171076937	171076937	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:171076937G>T	ENST00000367755.4	+	4	554	c.443G>T	c.(442-444)gGa>gTa	p.G148V	FMO3_ENST00000538429.1_Missense_Mutation_p.G85V|FMO3_ENST00000392085.2_Missense_Mutation_p.G148V|FMO3_ENST00000542847.1_Missense_Mutation_p.G128V	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	148					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)	p.G148V(1)		endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GTTTGTTCCGGACATCATGTG	0.403																																							uc001ghi.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(442-444)GGA>GTA		flavin containing monooxygenase 3							150.0	151.0	151.0					1																	171076937		2203	4300	6503	SO:0001583	missense	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171076937G>T	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.443G>T	1.37:g.171076937G>T	ENSP00000356729:p.Gly148Val					FMO3_uc001ghh.2_Missense_Mutation_p.G148V|FMO3_uc010pmb.1_Missense_Mutation_p.G128V|FMO3_uc010pmc.1_Missense_Mutation_p.G85V	p.G148V	NM_001002294	NP_001002294	P31513	FMO3_HUMAN			4	554	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		148					B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	ENST00000367755.4	37	c.443G>T	CCDS1292.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289857	0.59976	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	D;D;D;D	0.85955	-2.05;-2.05;-2.05;-2.05	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	H	0.98295	4.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.97527	1.0077	10	0.87932	D	0	-13.446	17.546	0.87861	0.0:0.0:1.0:0.0	.	85;128;148	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	V	148;148;128;85	ENSP00000356729:G148V;ENSP00000375935:G148V;ENSP00000444073:G128V;ENSP00000439500:G85V	ENSP00000356729:G148V	G	+	2	0	FMO3	169343561	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	9.864000	0.99589	2.201000	0.70794	0.591000	0.81541	GGA		0.403	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		32	92	1	0	4.4194e-11	0.002836	6.55377e-11	32	92				
FMO2	2327	broad.mit.edu	37	1	171165890	171165890	+	Missense_Mutation	SNP	G	G	A	rs200697365	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:171165890G>A	ENST00000209929.7	+	4	582	c.424G>A	c.(424-426)Gca>Aca	p.A142T	RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.A142T|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	142					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.A142T(2)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTCTTTGACGCAGTTATGGT	0.488													G|||	4	0.000798722	0.0	0.0	5008	,	,		21231	0.0		0.0	False		,,,				2504	0.0041						uc001ghk.1		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	skin(1)	1						c.(424-426)GCA>ACA		flavin containing monooxygenase 2							158.0	134.0	142.0					1																	171165890		2203	4300	6503	SO:0001583	missense	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171165890G>A	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.424G>A	1.37:g.171165890G>A	ENSP00000209929:p.Ala142Thr					FMO2_uc010pmd.1_5'UTR	p.A142T	NM_001460	NP_001451	Q99518	FMO2_HUMAN			4	541	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		142					Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.424G>A	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.875960	0.91664	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.62232	0.04;0.04	5.66	4.75	0.60458	.	0.052024	0.85682	D	0.000000	T	0.81884	0.4917	H	0.96720	3.87	0.42803	D	0.993934	D	0.65815	0.995	D	0.68353	0.957	D	0.87909	0.2696	10	0.66056	D	0.02	-4.4991	13.8196	0.63311	0.075:0.0:0.925:0.0	.	142	Q99518	FMO2_HUMAN	T	142	ENSP00000209929:A142T;ENSP00000405905:A142T	ENSP00000209929:A142T	A	+	1	0	FMO2	169432514	1.000000	0.71417	0.031000	0.17742	0.741000	0.42261	7.804000	0.85993	1.416000	0.47057	0.655000	0.94253	GCA		0.488	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		25	101	0	0	0	0.00632	0	25	101				
METTL13	51603	broad.mit.edu	37	1	171759628	171759628	+	Missense_Mutation	SNP	G	G	T	rs199675966		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:171759628G>T	ENST00000361735.3	+	5	1612	c.1346G>T	c.(1345-1347)cGg>cTg	p.R449L	METTL13_ENST00000362019.3_Missense_Mutation_p.R363L|METTL13_ENST00000466643.1_Intron|METTL13_ENST00000367737.5_Missense_Mutation_p.R293L|METTL13_ENST00000458517.1_Missense_Mutation_p.R448L	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	449							methyltransferase activity (GO:0008168)	p.R449L(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						AAGAAGCAGCGGCCTGCTGAT	0.537																																							uc001ghz.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(1345-1347)CGG>CTG		CGI-01 protein isoform 1							98.0	93.0	95.0					1																	171759628		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171759628G>T	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1346G>T	1.37:g.171759628G>T	ENSP00000354920:p.Arg449Leu					METTL13_uc001gia.2_Missense_Mutation_p.R363L|METTL13_uc001gib.2_Missense_Mutation_p.R293L|METTL13_uc010pml.1_Missense_Mutation_p.R448L	p.R449L	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN			5	1693	+			449					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.1346G>T	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	G	14.96	2.691711	0.48097	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	5.91	1.8	0.24995	.	0.445019	0.25073	N	0.033346	T	0.01353	0.0044	N	0.08118	0	0.31246	N	0.694649	B;P;B	0.35923	0.008;0.528;0.004	B;B;B	0.31290	0.011;0.127;0.007	T	0.51787	-0.8661	10	0.22706	T	0.39	-10.9556	8.5942	0.33705	0.4011:0.0:0.5989:0.0	.	448;293;449	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	L	448;363;293;449	ENSP00000401955:R448L;ENSP00000355393:R363L;ENSP00000356711:R293L;ENSP00000354920:R449L	ENSP00000354920:R449L	R	+	2	0	METTL13	170026251	0.002000	0.14202	1.000000	0.80357	0.987000	0.75469	0.562000	0.23531	0.355000	0.24131	0.655000	0.94253	CGG		0.537	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		29	95	1	0	2.68265e-12	0.002836	4.08263e-12	29	95				
RABGAP1L	9910	broad.mit.edu	37	1	174244990	174244990	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:174244990A>G	ENST00000251507.4	+	9	1247	c.1073A>G	c.(1072-1074)tAt>tGt	p.Y358C	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.Y321C|RABGAP1L_ENST00000367689.3_Missense_Mutation_p.Y5C	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.Y358C(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GGAAAGAGCTATGATGGGAGA	0.353																																							uc001gjx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|kidney(1)	4						c.(1072-1074)TAT>TGT		RAB GTPase activating protein 1-like isoform A							98.0	99.0	99.0					1																	174244990		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174244990A>G	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1073A>G	1.37:g.174244990A>G	ENSP00000251507:p.Tyr358Cys					RABGAP1L_uc009wwq.1_Missense_Mutation_p.Y370C|RABGAP1L_uc001gjw.2_Missense_Mutation_p.Y321C|RABGAP1L_uc001gjy.2_Missense_Mutation_p.Y26C|RABGAP1L_uc001gjz.2_Missense_Mutation_p.Y5C	p.Y358C	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN			9	1268	+			358					B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.1073A>G	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.735382	0.30774	.	.	ENSG00000152061	ENST00000357444;ENST00000367689;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.43688	0.94;3.55;0.96	5.37	-5.23	0.02798	.	0.804325	0.11852	N	0.523232	T	0.19525	0.0469	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.10296	0.002;0.003;0.0;0.0;0.001	B;B;B;B;B	0.10450	0.004;0.005;0.005;0.005;0.001	T	0.04140	-1.0974	10	0.38643	T	0.18	.	11.0731	0.48014	0.1469:0.3214:0.5316:0.0	.	370;5;358;358;321	B7WPG6;Q5JZA9;F1LJ00;Q5R372;Q5R372-2	.;.;.;RBG1L_HUMAN;.	C	321;5;358;370;370	ENSP00000350027:Y321C;ENSP00000251507:Y358C;ENSP00000403136:Y370C	ENSP00000251507:Y358C	Y	+	2	0	RABGAP1L	172511613	0.992000	0.36948	0.984000	0.44739	0.989000	0.77384	0.534000	0.23098	-0.518000	0.06452	-0.389000	0.06534	TAT		0.353	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		7	155	0	0	0	0.001984	0	7	155				
RABGAP1L	9910	broad.mit.edu	37	1	174274250	174274250	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:174274250G>A	ENST00000251507.4	+	11	1624	c.1450G>A	c.(1450-1452)Gat>Aat	p.D484N	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.D447N|RABGAP1L_ENST00000367689.3_Missense_Mutation_p.D131N	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.D484N(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ACCCCAGGATGATGAAGCAGA	0.468																																							uc001gjx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|kidney(1)	4						c.(1450-1452)GAT>AAT		RAB GTPase activating protein 1-like isoform A							83.0	69.0	74.0					1																	174274250		2203	4300	6503	SO:0001583	missense	9910				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity	g.chr1:174274250G>A	AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1450G>A	1.37:g.174274250G>A	ENSP00000251507:p.Asp484Asn					RABGAP1L_uc009wwq.1_Missense_Mutation_p.D496N|RABGAP1L_uc001gjw.2_Missense_Mutation_p.D447N|RABGAP1L_uc001gjy.2_Missense_Mutation_p.D152N|RABGAP1L_uc001gjz.2_Missense_Mutation_p.D131N	p.D484N	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN			11	1645	+			484					B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	c.1450G>A	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507852	0.85282	.	.	ENSG00000152061	ENST00000357444;ENST00000367689;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.09	5.09	0.68999	.	0.173101	0.49916	D	0.000132	D	0.82277	0.5002	M	0.65498	2.005	0.80722	D	1	D;P;D;D;D	0.59767	0.981;0.799;0.983;0.983;0.986	P;B;P;P;P	0.60949	0.704;0.272;0.881;0.881;0.797	T	0.81245	-0.1020	10	0.34782	T	0.22	.	15.2339	0.73413	0.0:0.0:1.0:0.0	.	496;131;484;484;447	B7WPG6;Q5JZA9;F1LJ00;Q5R372;Q5R372-2	.;.;.;RBG1L_HUMAN;.	N	447;131;484;496;496	ENSP00000350027:D447N;ENSP00000356662:D131N;ENSP00000251507:D484N;ENSP00000403136:D496N	ENSP00000251507:D484N	D	+	1	0	RABGAP1L	172540873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.759000	0.68785	2.362000	0.80069	0.655000	0.94253	GAT		0.468	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1	NM_001243765		4	65	0	0	0	0.000602	0	4	65				
PAPPA2	60676	broad.mit.edu	37	1	176525883	176525883	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:176525883G>C	ENST00000367662.3	+	2	1589	c.425G>C	c.(424-426)gGa>gCa	p.G142A	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G142A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	142					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G142A(2)		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						GAGCTGCTGGGAGATGATGAC	0.562																																							uc001gkz.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(424-426)GGA>GCA		pappalysin 2 isoform 1							105.0	109.0	108.0					1																	176525883		2138	4248	6386	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525883G>C	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.425G>C	1.37:g.176525883G>C	ENSP00000356634:p.Gly142Ala					PAPPA2_uc001gky.1_Missense_Mutation_p.G142A|PAPPA2_uc009www.2_RNA	p.G142A	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			2	1589	+			142					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.425G>C	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862849	0.32884	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.34667	4.62;1.35	3.91	0.812	0.18744	.	1.077540	0.07342	U	0.880934	T	0.31136	0.0787	L	0.54323	1.7	0.23802	N	0.996801	B;B	0.25667	0.075;0.131	B;B	0.22386	0.027;0.039	T	0.33292	-0.9874	10	0.54805	T	0.06	-0.0035	4.1927	0.10428	0.2296:0.1942:0.5762:0.0	.	142;142	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	A	142	ENSP00000356634:G142A;ENSP00000356633:G142A	ENSP00000356633:G142A	G	+	2	0	PAPPA2	174792506	0.950000	0.32346	0.562000	0.28370	0.923000	0.55619	0.825000	0.27393	0.053000	0.16036	0.561000	0.74099	GGA		0.562	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			37	130	0	0	0	0.004289	0	37	130				
PAPPA2	60676	broad.mit.edu	37	1	176679222	176679222	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:176679222C>A	ENST00000367662.3	+	11	4725	c.3561C>A	c.(3559-3561)taC>taA	p.Y1187*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1187					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Y1187*(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAAAGGATACTTGGATCAAT	0.453																																							uc001gkz.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(3559-3561)TAC>TAA		pappalysin 2 isoform 1							129.0	124.0	126.0					1																	176679222		1898	4125	6023	SO:0001587	stop_gained	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176679222C>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.3561C>A	1.37:g.176679222C>A	ENSP00000356634:p.Tyr1187*					PAPPA2_uc009www.2_RNA	p.Y1187*	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			11	4725	+			1187					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Nonsense_Mutation	SNP	ENST00000367662.3	37	c.3561C>A	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	C	47	13.833046	0.99765	.	.	ENSG00000116183	ENST00000367662	.	.	.	5.76	-2.52	0.06346	.	0.243493	0.43110	D	0.000614	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.7982	13.2077	0.59807	0.0:0.3342:0.0:0.6658	.	.	.	.	X	1187	.	ENSP00000356634:Y1187X	Y	+	3	2	PAPPA2	174945845	0.001000	0.12720	0.005000	0.12908	0.027000	0.11550	-0.042000	0.12063	-0.252000	0.09528	-0.136000	0.14681	TAC		0.453	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			39	126	1	0	1.03484e-13	0.005524	1.61009e-13	39	126				
ASTN1	460	broad.mit.edu	37	1	176845691	176845691	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:176845691C>A	ENST00000367654.3	-	21	3680	c.3469G>T	c.(3469-3471)Gat>Tat	p.D1157Y	ASTN1_ENST00000424564.2_Missense_Mutation_p.D1149Y|ASTN1_ENST00000367657.3_Missense_Mutation_p.D1149Y|ASTN1_ENST00000361833.2_Missense_Mutation_p.D1149Y	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1157					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.D1149Y(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTGACATCATCCACCACGGGG	0.577																																							uc001glc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(3445-3447)GAT>TAT		astrotactin isoform 1							151.0	114.0	126.0					1																	176845691		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176845691C>A	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3469G>T	1.37:g.176845691C>A	ENSP00000356626:p.Asp1157Tyr					ASTN1_uc001glb.1_Missense_Mutation_p.D1149Y|ASTN1_uc001gld.1_Missense_Mutation_p.D1149Y	p.D1149Y	NM_004319	NP_004310	O14525	ASTN1_HUMAN			21	3657	-			1157					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.3445G>T		.	.	.	.	.	.	.	.	.	.	C	24.5	4.533940	0.85812	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.20738	2.05;2.47;2.47;2.06	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.40079	-0.9582	10	0.87932	D	0	-21.3211	18.6437	0.91404	0.0:1.0:0.0:0.0	.	1149;1149	O14525-2;B1AJS1	.;.	Y	1149;1149;1157;1149;1149	ENSP00000356629:D1149Y;ENSP00000354536:D1149Y;ENSP00000356626:D1157Y;ENSP00000395041:D1149Y	ENSP00000354536:D1149Y	D	-	1	0	ASTN1	175112314	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.487000	0.81328	2.478000	0.83669	0.655000	0.94253	GAT		0.577	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		13	63	1	0	3.27435e-08	0.00245	4.42801e-08	13	63				
XPR1	9213	broad.mit.edu	37	1	180832881	180832881	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:180832881G>T	ENST00000367590.4	+	12	1737	c.1539G>T	c.(1537-1539)ctG>ctT	p.L513L	XPR1_ENST00000367589.3_Silent_p.L448L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	513	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)	p.L513L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TCTTTTACCTGTGGATTGTCT	0.388																																							uc001goi.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1537-1539)CTG>CTT		xenotropic and polytropic retrovirus receptor							154.0	149.0	151.0					1																	180832881		2203	4300	6503	SO:0001819	synonymous_variant	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180832881G>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1539G>T	1.37:g.180832881G>T						XPR1_uc009wxn.2_Silent_p.L448L	p.L513L	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN			12	1731	+			513			EXS.|Helical; (Potential).		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Silent	SNP	ENST00000367590.4	37	c.1539G>T	CCDS1340.1																																																																																				0.388	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		54	147	1	0	7.41606e-26	0.00361	1.29905e-25	54	147				
CACNA1E	777	broad.mit.edu	37	1	181765848	181765848	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:181765848C>G	ENST00000367573.2	+	47	6253	c.6253C>G	c.(6253-6255)Cga>Gga	p.R2085G	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2036G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2066G|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R2023G|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1649G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1974G|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2042G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2085					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)	p.R2085G(1)|p.R2042G(1)		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						GGAGCGGGGACGATCAAAAGA	0.562																																							uc001gow.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(6124-6126)CGA>GGA		calcium channel, voltage-dependent, R type,							50.0	52.0	51.0					1																	181765848		1981	4168	6149	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181765848C>G	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.6253C>G	1.37:g.181765848C>G	ENSP00000356545:p.Arg2085Gly					CACNA1E_uc009wxs.2_Missense_Mutation_p.R1930G|CACNA1E_uc009wxt.2_Missense_Mutation_p.R1311G	p.R2042G	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			46	6289	+			2085			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6124C>G	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231080	0.79688	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98862	-5.05;-5.03;-4.65;-5.02;-5.19;-4.65;-4.65	5.91	5.91	0.95273	.	0.601005	0.15770	N	0.245467	D	0.98614	0.9536	L	0.46819	1.47	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	D	0.98304	1.0520	10	0.54805	T	0.06	.	14.7059	0.69189	0.145:0.855:0.0:0.0	.	2023;2042	Q15878-2;Q15878-3	.;.	G	2042;2023;2036;1974;1649;2066;2085	ENSP00000356542:R2042G;ENSP00000434814:R2023G;ENSP00000350183:R2036G;ENSP00000351101:R1974G;ENSP00000356539:R1649G;ENSP00000353222:R2066G;ENSP00000356545:R2085G	ENSP00000350183:R2036G	R	+	1	2	CACNA1E	180032471	0.912000	0.30974	0.983000	0.44433	0.960000	0.62799	1.813000	0.38962	2.793000	0.96121	0.655000	0.94253	CGA		0.562	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		11	37	0	0	0	0.010729	0	11	37				
EDEM3	80267	broad.mit.edu	37	1	184681671	184681671	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:184681671C>G	ENST00000318130.8	-	14	1698	c.1432G>C	c.(1432-1434)Gaa>Caa	p.E478Q	EDEM3_ENST00000466392.1_5'Flank|EDEM3_ENST00000367512.3_Missense_Mutation_p.E435Q	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	478					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.E435Q(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATAATGTCTTCTTTATCAGCA	0.279																																							uc010pok.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1432-1434)GAA>CAA		ER degradation enhancer, mannosidase alpha-like							57.0	58.0	57.0					1																	184681671		2203	4277	6480	SO:0001583	missense	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184681671C>G	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.1432G>C	1.37:g.184681671C>G	ENSP00000318147:p.Glu478Gln					EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.E478Q	p.E478Q	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN			14	1693	-			478					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	c.1432G>C	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141727	0.57044	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.44083	0.93;0.93	5.82	5.82	0.92795	.	0.098210	0.64402	D	0.000002	T	0.45296	0.1335	L	0.45352	1.415	0.80722	D	1	B	0.26445	0.149	B	0.36186	0.219	T	0.21724	-1.0237	10	0.31617	T	0.26	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	478	Q9BZQ6	EDEM3_HUMAN	Q	478;435	ENSP00000318147:E478Q;ENSP00000356482:E435Q	ENSP00000318147:E478Q	E	-	1	0	EDEM3	182948294	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.764000	0.62264	2.767000	0.95098	0.655000	0.94253	GAA		0.279	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		5	63	0	0	0	0.000602	0	5	63				
PTGS2	5743	broad.mit.edu	37	1	186643804	186643804	+	Missense_Mutation	SNP	C	C	A	rs200408009		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:186643804C>A	ENST00000367468.5	-	10	1632	c.1496G>T	c.(1495-1497)cGg>cTg	p.R499L	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	499					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.R499L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GGCATCTGGCCGAGGCTTTTC	0.478																																							uc001gsb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1495-1497)CGG>CTG		prostaglandin-endoperoxide synthase 2 precursor	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						100.0	99.0	99.0					1																	186643804		2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186643804C>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1496G>T	1.37:g.186643804C>A	ENSP00000356438:p.Arg499Leu					PTGS2_uc009wyo.2_Missense_Mutation_p.R346L	p.R499L	NM_000963	NP_000954	P35354	PGH2_HUMAN			10	1633	-			499					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.1496G>T	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489082	0.64074	.	.	ENSG00000073756	ENST00000367468	T	0.67523	-0.27	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.68247	0.2980	L	0.54965	1.715	0.80722	D	1	B	0.18610	0.029	B	0.32393	0.145	T	0.62267	-0.6890	10	0.33141	T	0.24	-17.8877	19.6891	0.95991	0.0:1.0:0.0:0.0	.	499	P35354	PGH2_HUMAN	L	499	ENSP00000356438:R499L	ENSP00000356438:R499L	R	-	2	0	PTGS2	184910427	1.000000	0.71417	0.951000	0.38953	0.935000	0.57460	7.623000	0.83113	2.641000	0.89580	0.650000	0.86243	CGG		0.478	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		23	125	1	0	3.62473e-10	0.012319	5.21961e-10	23	125				
PTGS2	5743	broad.mit.edu	37	1	186646911	186646911	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:186646911C>G	ENST00000367468.5	-	5	645	c.509G>C	c.(508-510)aGa>aCa	p.R170T	RP5-973M2.2_ENST00000608917.1_lincRNA|PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	170					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.R170T(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GAACTTTCTTCTTAGAAGCAA	0.393																																							uc001gsb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(508-510)AGA>ACA		prostaglandin-endoperoxide synthase 2 precursor	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						99.0	100.0	99.0					1																	186646911		2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186646911C>G	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.509G>C	1.37:g.186646911C>G	ENSP00000356438:p.Arg170Thr					PTGS2_uc009wyo.2_Intron	p.R170T	NM_000963	NP_000954	P35354	PGH2_HUMAN			5	646	-			170					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.509G>C	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	C	31	5.065412	0.93898	.	.	ENSG00000073756	ENST00000367468	T	0.22945	1.93	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.64136	0.2571	M	0.93150	3.385	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.74219	-0.3736	10	0.87932	D	0	-23.5144	19.4878	0.95037	0.0:1.0:0.0:0.0	.	170	P35354	PGH2_HUMAN	T	170	ENSP00000356438:R170T	ENSP00000356438:R170T	R	-	2	0	PTGS2	184913534	1.000000	0.71417	0.916000	0.36221	0.982000	0.71751	7.627000	0.83176	2.602000	0.87976	0.557000	0.71058	AGA		0.393	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		6	90	0	0	0	0.001168	0	6	90				
BRINP3	339479	broad.mit.edu	37	1	190067232	190067232	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:190067232C>A	ENST00000367462.3	-	8	2448	c.2217G>T	c.(2215-2217)gtG>gtT	p.V739V	BRINP3_ENST00000534846.1_Silent_p.V637V	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	739					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.V739V(1)									GGATCCTCACCACCTCACTAG	0.438																																							uc001gse.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(2215-2217)GTG>GTT		family with sequence similarity 5, member C							126.0	122.0	123.0					1																	190067232		2203	4300	6503	SO:0001819	synonymous_variant	339479					extracellular region		g.chr1:190067232C>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2217G>T	1.37:g.190067232C>A						FAM5C_uc010pot.1_Silent_p.V637V	p.V739V	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	2449	-	Prostate(682;0.198)		739					B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	c.2217G>T	CCDS1373.1																																																																																				0.438	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		45	120	1	0	4.64027e-19	0.00361	7.87713e-19	45	120				
BRINP3	339479	broad.mit.edu	37	1	190203503	190203503	+	Splice_Site	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:190203503T>A	ENST00000367462.3	-	5	954	c.723A>T	c.(721-723)caA>caT	p.Q241H	BRINP3_ENST00000534846.1_Splice_Site_p.Q139H	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	241	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.Q241H(1)									CCAACATACCTTGCAACTGAA	0.373																																							uc001gse.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(721-723)CAA>CAT		family with sequence similarity 5, member C							101.0	93.0	95.0					1																	190203503		2203	4300	6503	SO:0001630	splice_region_variant	339479					extracellular region		g.chr1:190203503T>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.724+1A>T	1.37:g.190203503T>A						FAM5C_uc010pot.1_Missense_Mutation_p.Q139H	p.Q241H	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			5	955	-	Prostate(682;0.198)		241					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.723A>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.362336	0.82353	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.19669	2.39;2.13	5.87	5.87	0.94306	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.64830	0.994;0.99	D;D	0.75484	0.986;0.969	T	0.23547	-1.0185	10	0.56958	D	0.05	.	14.2151	0.65788	0.0:0.0:0.0:1.0	.	139;241	B7Z260;Q76B58	.;FAM5C_HUMAN	H	241;139	ENSP00000356432:Q241H;ENSP00000438022:Q139H	ENSP00000356432:Q241H	Q	-	3	2	FAM5C	188470126	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.139000	0.71728	2.239000	0.73571	0.528000	0.53228	CAA		0.373	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051	Missense_Mutation	6	73	0	0	0	0.001984	0	6	73				
RGS18	64407	broad.mit.edu	37	1	192150570	192150570	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:192150570G>T	ENST00000367460.3	+	4	613	c.432G>T	c.(430-432)caG>caT	p.Q144H		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	144	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.Q144H(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AATTTATACAGACTGATGCCC	0.264																																							uc001gsg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(430-432)CAG>CAT		regulator of G-protein signalling 18							44.0	47.0	46.0					1																	192150570		2199	4289	6488	SO:0001583	missense	64407				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192150570G>T	AF268036	CCDS1374.1	1q31.2	2008-02-05	2007-08-14		ENSG00000150681	ENSG00000150681		"""Regulators of G-protein signaling"""	14261	protein-coding gene	gene with protein product		607192	"""regulator of G-protein signalling 18"""			11042171	Standard	NM_130782		Approved	RGS13	uc001gsg.3	Q9NS28	OTTHUMG00000035592	ENST00000367460.3:c.432G>T	1.37:g.192150570G>T	ENSP00000356430:p.Gln144His						p.Q144H	NM_130782	NP_570138	Q9NS28	RGS18_HUMAN			4	608	+			144			RGS.		B2RD23	Missense_Mutation	SNP	ENST00000367460.3	37	c.432G>T	CCDS1374.1	.	.	.	.	.	.	.	.	.	.	G	7.154	0.584418	0.13749	.	.	ENSG00000150681	ENST00000367460	T	0.01998	4.51	5.34	3.39	0.38822	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.517401	0.22269	N	0.062285	T	0.04407	0.0121	L	0.53729	1.69	0.09310	N	0.999999	P	0.38642	0.641	P	0.47346	0.544	T	0.29610	-1.0006	10	0.39692	T	0.17	.	5.9231	0.19094	0.1614:0.0:0.6847:0.1539	.	144	Q9NS28	RGS18_HUMAN	H	144	ENSP00000356430:Q144H	ENSP00000356430:Q144H	Q	+	3	2	RGS18	190417193	0.001000	0.12720	0.671000	0.29857	0.226000	0.24999	0.340000	0.19892	0.574000	0.29417	0.460000	0.39030	CAG		0.264	RGS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086382.1	NM_130782		4	80	1	0	0.000602214	0.000602	0.000659027	4	80				
KCNT2	343450	broad.mit.edu	37	1	196227521	196227521	+	Nonsense_Mutation	SNP	G	G	T	rs190445712	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:196227521G>T	ENST00000294725.9	-	26	3929	c.3014C>A	c.(3013-3015)tCg>tAg	p.S1005*	KCNT2_ENST00000609185.1_Nonsense_Mutation_p.S938*|KCNT2_ENST00000367433.5_Nonsense_Mutation_p.S981*|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.S939*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1005					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.S1005*(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGGATGGTCCGACTGATCACT	0.493																																							uc001gtd.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(3013-3015)TCG>TAG		potassium channel, subfamily T, member 2							191.0	155.0	167.0					1																	196227521		2203	4300	6503	SO:0001587	stop_gained	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196227521G>T	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3014C>A	1.37:g.196227521G>T	ENSP00000294725:p.Ser1005*					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Nonsense_Mutation_p.S938*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.S981*|KCNT2_uc001gtg.1_RNA|KCNT2_uc001gth.1_Nonsense_Mutation_p.S509*	p.S1005*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			26	3074	-			1005			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Nonsense_Mutation	SNP	ENST00000294725.9	37	c.3014C>A	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	37	6.455633	0.97581	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	.	.	.	5.74	5.74	0.90152	.	0.000000	0.49916	D	0.000136	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-11.8127	19.9118	0.97027	0.0:0.0:1.0:0.0	.	.	.	.	X	981;939;1005	.	ENSP00000294725:S1005X	S	-	2	0	KCNT2	194494144	1.000000	0.71417	0.963000	0.40424	0.058000	0.15608	7.628000	0.83189	2.710000	0.92621	0.643000	0.83706	TCG		0.493	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		28	98	1	0	4.06085e-26	0.007291	7.14929e-26	28	98				
KCNT2	343450	broad.mit.edu	37	1	196285133	196285133	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:196285133C>A	ENST00000294725.9	-	21	3287	c.2372G>T	c.(2371-2373)gGa>gTa	p.G791V	KCNT2_ENST00000609185.1_Missense_Mutation_p.G717V|KCNT2_ENST00000367433.5_Missense_Mutation_p.G767V|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.G717V			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	791					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.G791V(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAAAGTCACTCCACACCTGAG	0.393																																							uc001gtd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|skin(1)	7						c.(2371-2373)GGA>GTA		potassium channel, subfamily T, member 2							111.0	94.0	100.0					1																	196285133		2203	4299	6502	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196285133C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2372G>T	1.37:g.196285133C>A	ENSP00000294725:p.Gly791Val					KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.G717V|KCNT2_uc001gtf.1_Missense_Mutation_p.G767V|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.G767V|KCNT2_uc001gth.1_Missense_Mutation_p.G288V	p.G791V	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN			21	2432	-			791			Cytoplasmic (Potential).		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.2372G>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919804	0.92249	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.79653	-1.29;-1.29;-1.29	5.78	5.78	0.91487	.	0.000000	0.64402	D	0.000019	D	0.90738	0.7093	M	0.80028	2.48	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.91168	0.4966	10	0.87932	D	0	-20.1072	20.0044	0.97430	0.0:1.0:0.0:0.0	.	791;749;767;717;791	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	V	767;717;791	ENSP00000356403:G767V;ENSP00000356401:G717V;ENSP00000294725:G791V	ENSP00000294725:G791V	G	-	2	0	KCNT2	194551756	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.714000	0.92807	0.650000	0.86243	GGA		0.393	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		6	47	1	0	2.0095e-06	0.001984	2.53066e-06	6	47				
CFH	3075	broad.mit.edu	37	1	196654293	196654293	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:196654293G>T	ENST00000359637.2	+	6	760	c.698G>T	c.(697-699)gGt>gTt	p.G233V	CFH_ENST00000439155.2_Missense_Mutation_p.G297V|CFH_ENST00000367429.4_Missense_Mutation_p.G297V			P08603	CFAH_HUMAN	complement factor H	297	Sushi 4. {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)	p.G297V(1)		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						TGTAGAAATGGTTTTTATCCT	0.403																																							uc001gtj.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|breast(1)	6						c.(889-891)GGT>GTT		complement factor H isoform a precursor							128.0	117.0	121.0					1																	196654293		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196654293G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.698G>T	1.37:g.196654293G>T	ENSP00000352658:p.Gly233Val					CFH_uc001gti.3_Missense_Mutation_p.G297V|CFH_uc009wyw.2_Missense_Mutation_p.G297V|CFH_uc009wyx.2_Missense_Mutation_p.G233V	p.G297V	NM_000186	NP_000177	P08603	CFAH_HUMAN			7	1130	+			297			Sushi 5.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.890G>T		.	.	.	.	.	.	.	.	.	.	G	11.35	1.612798	0.28712	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.77358	-1.09;-1.09;-1.09	5.11	3.25	0.37280	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.88351	0.6413	M	0.90870	3.155	0.40955	D	0.984576	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.994;0.995	D	0.87477	0.2418	9	0.87932	D	0	.	7.4864	0.27437	0.1981:0.0:0.8019:0.0	.	233;297;297;297	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	V	297;297;297;233	ENSP00000356399:G297V;ENSP00000402656:G297V;ENSP00000352658:G233V	ENSP00000352658:G233V	G	+	2	0	CFH	194920916	0.939000	0.31865	0.084000	0.20598	0.031000	0.12232	1.389000	0.34453	0.549000	0.28973	0.585000	0.79938	GGT		0.403	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		62	140	1	0	2.19297e-23	0.00361	3.80309e-23	62	140				
ASPM	259266	broad.mit.edu	37	1	197091598	197091598	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:197091598T>G	ENST00000367409.4	-	14	3774	c.3518A>C	c.(3517-3519)cAa>cCa	p.Q1173P	ASPM_ENST00000294732.7_Missense_Mutation_p.Q1173P|ASPM_ENST00000367408.1_Missense_Mutation_p.Q423P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1173	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.Q1173P(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAACCAGTTTGCGTACATTC	0.413																																							uc001gtu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(3517-3519)CAA>CCA		asp (abnormal spindle)-like, microcephaly							103.0	91.0	95.0					1																	197091598		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197091598T>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3518A>C	1.37:g.197091598T>G	ENSP00000356379:p.Gln1173Pro					ASPM_uc001gtv.2_Missense_Mutation_p.Q1173P|ASPM_uc001gtw.3_Intron	p.Q1173P	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			14	3775	-			1173			CH 2.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.3518A>C	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	14.73	2.621182	0.46736	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.57595	0.39;1.64;1.37	5.96	4.83	0.62350	Calmodulin-regulated spectrin-associated protein, CH domain (1);Calponin homology domain (3);	0.507607	0.19601	N	0.110385	T	0.41259	0.1151	L	0.34521	1.04	0.09310	N	1	B;B	0.27192	0.053;0.171	B;B	0.24701	0.03;0.055	T	0.38542	-0.9656	10	0.66056	D	0.02	.	9.5586	0.39355	0.0:0.1517:0.0:0.8483	.	1173;1173	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	P	1173;1173;423	ENSP00000356379:Q1173P;ENSP00000294732:Q1173P;ENSP00000356378:Q423P	ENSP00000294732:Q1173P	Q	-	2	0	ASPM	195358221	0.839000	0.29477	0.060000	0.19600	0.904000	0.53231	2.020000	0.41010	1.078000	0.41014	0.477000	0.44152	CAA		0.413	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		14	40	0	0	0	0.001855	0	14	40				
FAM58BP	339521	broad.mit.edu	37	1	200182769	200182769	+	IGR	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:200182769G>T								NR5A2 (36217 upstream) : RP11-532L16.3 (101793 downstream)																							CCGCAGCGCCGGCAGCCAGGG	0.657																																							uc009wzi.1		NA																	0					0						c.(76-78)CCG>CCT		family with sequence similarity 58 member B							46.0	51.0	49.0					1																	200182769		2202	4300	6502	SO:0001628	intergenic_variant	339521				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chr1:200182769G>T																													1.37:g.200182769G>T							p.P26P	NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN			1	114	+	Prostate(682;0.19)		26						Silent	SNP		37	c.78G>T																																																																																				0	0.657									11	21	1	0	3.86212e-05	0.008291	4.51013e-05	11	21				
FAM58BP	339521	broad.mit.edu	37	1	200183300	200183300	+	IGR	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:200183300C>A								NR5A2 (36748 upstream) : RP11-532L16.3 (101262 downstream)																							TCTACCTGGCCCTGCAGGTCT	0.622																																							uc009wzi.1		NA																	0					0						c.(607-609)GCC>GCA		family with sequence similarity 58 member B							45.0	48.0	47.0					1																	200183300		2203	4300	6503	SO:0001628	intergenic_variant	339521				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding	g.chr1:200183300C>A																													1.37:g.200183300C>A							p.A203A	NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN			1	645	+	Prostate(682;0.19)		203						Silent	SNP		37	c.609C>A																																																																																				0	0.622									14	37	1	0	1.5842e-08	0.001855	2.17619e-08	14	37				
CAMSAP2	23271	broad.mit.edu	37	1	200817728	200817728	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:200817728G>T	ENST00000236925.4	+	12	1913	c.1864G>T	c.(1864-1866)Gga>Tga	p.G622*	CAMSAP2_ENST00000413307.2_Nonsense_Mutation_p.G595*|CAMSAP2_ENST00000358823.2_Nonsense_Mutation_p.G611*			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	622					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)	p.G611*(1)									AGTAGACACTGGAATTCACGT	0.373																																							uc001gvl.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1864-1866)GGA>TGA		calmodulin regulated spectrin-associated protein							103.0	98.0	100.0					1																	200817728		2203	4300	6503	SO:0001587	stop_gained	23271					cytoplasm|microtubule	protein binding	g.chr1:200817728G>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.1864G>T	1.37:g.200817728G>T	ENSP00000236925:p.Gly622*					CAMSAP1L1_uc001gvk.2_Nonsense_Mutation_p.G611*|CAMSAP1L1_uc001gvm.2_Nonsense_Mutation_p.G595*	p.G622*	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			12	2134	+			622					B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Nonsense_Mutation	SNP	ENST00000236925.4	37	c.1864G>T		.	.	.	.	.	.	.	.	.	.	G	38	6.731235	0.97796	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-26.9052	19.8968	0.96969	0.0:0.0:1.0:0.0	.	.	.	.	X	611;595;622	.	ENSP00000236925:G622X	G	+	1	0	CAMSAP1L1	199084351	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.230000	0.95299	2.691000	0.91804	0.655000	0.94253	GGA		0.373	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459		31	106	1	0	1.74807e-11	0.010818	2.6221e-11	31	106				
KIF21B	23046	broad.mit.edu	37	1	200959110	200959110	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:200959110C>A	ENST00000422435.2	-	21	3408	c.3092G>T	c.(3091-3093)cGc>cTc	p.R1031L	KIF21B_ENST00000360529.5_Missense_Mutation_p.R1031L|KIF21B_ENST00000332129.2_Missense_Mutation_p.R1031L|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1031L	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1031					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)	p.R1031L(1)|p.R1031H(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TAGCAGGAGGCGGGCTTCAGC	0.597																																							uc001gvs.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)	6						c.(3091-3093)CGC>CTC		kinesin family member 21B							72.0	66.0	68.0					1																	200959110		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200959110C>A	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3092G>T	1.37:g.200959110C>A	ENSP00000411831:p.Arg1031Leu					KIF21B_uc001gvr.1_Missense_Mutation_p.R1031L|KIF21B_uc009wzl.1_Missense_Mutation_p.R1031L|KIF21B_uc010ppn.1_Missense_Mutation_p.R1031L	p.R1031L	NM_017596	NP_060066	O75037	KI21B_HUMAN			21	3409	-			1031					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.3092G>T	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298995	0.95574	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55	4.92	4.92	0.64577	Prefoldin (1);	0.000000	0.85682	D	0.000000	D	0.94411	0.8202	M	0.79123	2.44	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.997;0.998	D;D;D;D	0.81914	0.987;0.995;0.987;0.994	D	0.95067	0.8201	10	0.72032	D	0.01	.	18.1472	0.89661	0.0:1.0:0.0:0.0	.	1031;1031;1031;1031	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	L	1031	ENSP00000328494:R1031L;ENSP00000353724:R1031L;ENSP00000433808:R1031L;ENSP00000411831:R1031L	ENSP00000328494:R1031L	R	-	2	0	KIF21B	199225733	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.716000	0.84723	2.280000	0.76307	0.655000	0.94253	CGC		0.597	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		10	76	1	0	1.76689e-08	0.006214	2.40187e-08	10	76				
IGFN1	91156	broad.mit.edu	37	1	201185842	201185842	+	Missense_Mutation	SNP	G	G	A	rs143611839	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:201185842G>A	ENST00000335211.4	+	16	9686	c.9556G>A	c.(9556-9558)Gag>Aag	p.E3186K	IGFN1_ENST00000295591.8_Missense_Mutation_p.E346K	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	729						nucleus (GO:0005634)|Z disc (GO:0030018)		p.E346K(2)|p.E3186K(2)		autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGGGGCTGGCGAGGCCCTGGA	0.657													G|||	3	0.000599042	0.0	0.0043	5008	,	,		14301	0.0		0.0	False		,,,				2504	0.0						uc001gwc.2		NA																	4	Substitution - Missense(4)		cervix(2)|lung(2)	ovary(2)|pancreas(1)	3						c.(1036-1038)GAG>AAG		RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;		G	LYS/GLU	0,4406		0,0,2203	41.0	48.0	46.0		9556	3.1	0.7	1	dbSNP_134	46	11,8589	7.7+/-29.5	0,11,4289	yes	missense	IGFN1	NM_001164586.1	56	0,11,6492	AA,AG,GG		0.1279,0.0,0.0846	benign	3186/3709	201185842	11,12995	2203	4300	6503	SO:0001583	missense	91156							g.chr1:201185842G>A	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9556G>A	1.37:g.201185842G>A	ENSP00000334714:p.Glu3186Lys					IGFN1_uc001gwb.2_RNA	p.E346K	NM_178275	NP_840059					5	1808	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.1036G>A	CCDS53455.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	G|G	24.2|24.2	4.508854|4.508854	0.85282|0.85282	0.0|0.0	0.001279|0.001279	ENSG00000163395|ENSG00000163395	ENST00000335211;ENST00000295591|ENST00000412892	T;T|.	0.57595|.	0.39;0.39|.	4.06|4.06	3.11|3.11	0.35812|0.35812	.|.	0.212850|.	0.38548|.	N|.	0.001642|.	T|T	0.62913|0.62913	0.2467|0.2467	M|M	0.71920|0.71920	2.185|2.185	0.38776|0.38776	D|D	0.954664|0.954664	D|.	0.71674|.	0.998|.	D|.	0.65323|.	0.934|.	T|T	0.68914|0.68914	-0.5283|-0.5283	10|5	0.62326|.	D|.	0.03|.	.|.	11.8668|11.8668	0.52499|0.52499	0.0:0.1765:0.8235:0.0|0.0:0.1765:0.8235:0.0	.|.	3186|.	F8WAI1|.	.|.	K|Q	3186;346|603	ENSP00000334714:E3186K;ENSP00000295591:E346K|.	ENSP00000295591:E346K|.	E|R	+|+	1|2	0|0	IGFN1|IGFN1	199452465|199452465	1.000000|1.000000	0.71417|0.71417	0.677000|0.677000	0.29947|0.29947	0.054000|0.054000	0.15201|0.15201	4.058000|4.058000	0.57463|0.57463	0.878000|0.878000	0.35920|0.35920	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.657	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		4	83	0	0	0	0.000602	0	4	83				
PHLDA3	23612	broad.mit.edu	37	1	201437670	201437670	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:201437670T>C	ENST00000367311.3	-	1	642	c.245A>G	c.(244-246)gAg>gGg	p.E82G	PHLDA3_ENST00000485436.1_5'UTR|PHLDA3_ENST00000367309.1_Missense_Mutation_p.E82G	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	82	PH.				anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.E82G(1)		lung(1)|prostate(1)	2						GAAGTCGATCTCGCCGCCCCC	0.652																																							uc001gwq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(244-246)GAG>GGG		pleckstrin homology-like domain, family A,							69.0	74.0	72.0					1																	201437670		2203	4300	6503	SO:0001583	missense	23612				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding	g.chr1:201437670T>C	AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"""pleckstrin homology-like domain, family A, member 2"""	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.245A>G	1.37:g.201437670T>C	ENSP00000356280:p.Glu82Gly					PHLDA3_uc009wzx.2_5'UTR	p.E82G	NM_012396	NP_036528	Q9Y5J5	PHLA3_HUMAN			1	630	-			82			PH.		B2R5A4|Q53HD6|Q8NBW9	Missense_Mutation	SNP	ENST00000367311.3	37	c.245A>G	CCDS1412.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.863715	0.91511	.	.	ENSG00000174307	ENST00000367311;ENST00000367309	T;T	0.31247	1.5;1.5	3.75	3.75	0.43078	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.85682	U	0.000000	T	0.48960	0.1529	L	0.56199	1.76	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.51568	-0.8689	10	0.72032	D	0.01	-22.8563	12.7483	0.57293	0.0:0.0:0.0:1.0	.	82	Q9Y5J5	PHLA3_HUMAN	G	82	ENSP00000356280:E82G;ENSP00000356278:E82G	ENSP00000356278:E82G	E	-	2	0	PHLDA3	199704293	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.727000	0.84838	1.465000	0.48006	0.402000	0.26972	GAG		0.652	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087020.2	NM_012396		6	110	0	0	0	0.001168	0	6	110				
LGR6	59352	broad.mit.edu	37	1	202245499	202245499	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:202245499G>A	ENST00000367278.3	+	5	583	c.494G>A	c.(493-495)cGc>cAc	p.R165H	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Missense_Mutation_p.R113H	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	165					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)	p.R165H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCCTCCCTCCGCCACCTCTGG	0.632																																							uc001gxu.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(493-495)CGC>CAC		leucine-rich repeat-containing G protein-coupled							74.0	64.0	68.0					1																	202245499		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202245499G>A	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.494G>A	1.37:g.202245499G>A	ENSP00000356247:p.Arg165His					LGR6_uc001gxv.2_Missense_Mutation_p.R113H|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Intron|LGR6_uc009xac.1_RNA	p.R165H	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			5	494	+			165			LRR 4.|Extracellular (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.494G>A	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	G	34	5.403432	0.96051	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000367277;ENST00000423542	T;T;T	0.59772	0.24;0.24;1.71	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.75532	0.3862	M	0.69463	2.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77950	-0.2395	10	0.87932	D	0	.	18.6354	0.91376	0.0:0.0:1.0:0.0	.	113;165	Q9HBX8-2;Q9HBX8	.;LGR6_HUMAN	H	165;113;91;91	ENSP00000356247:R165H;ENSP00000255432:R113H;ENSP00000402284:R91H	ENSP00000255432:R113H	R	+	2	0	LGR6	200512122	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.773000	0.85462	2.632000	0.89209	0.637000	0.83480	CGC		0.632	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		4	95	0	0	0	0.009096	0	4	95				
MYBPH	4608	broad.mit.edu	37	1	203138136	203138136	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:203138136G>T	ENST00000255416.4	-	9	1372	c.1315C>A	c.(1315-1317)Cta>Ata	p.L439I		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	439	Ig-like C2-type 2.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.L439I(1)		endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CGGATCTCTAGGGTGCAGACG	0.562																																					NSCLC(32;174 1025 14462 23899 42933)	NSCLC(32;174 1025 14462 23899 42933)	uc001gzh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1315-1317)CTA>ATA		myosin binding protein H							107.0	114.0	111.0					1																	203138136		2203	4300	6503	SO:0001583	missense	4608				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	g.chr1:203138136G>T	BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7552	protein-coding gene	gene with protein product		160795	"""myosin-binding protein H"""			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.1315C>A	1.37:g.203138136G>T	ENSP00000255416:p.Leu439Ile					FMOD_uc010pqi.1_Intron	p.L439I	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)	9	1374	-			439			Ig-like C2-type 2.		Q16886|Q86YC5	Missense_Mutation	SNP	ENST00000255416.4	37	c.1315C>A	CCDS30975.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340317	0.81911	.	.	ENSG00000133055	ENST00000255416	D	0.89196	-2.48	5.36	2.44	0.29823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39341	N	0.001389	D	0.94301	0.8169	M	0.88979	2.995	0.46774	D	0.999192	D	0.89917	1.0	D	0.91635	0.999	D	0.93867	0.7159	10	0.87932	D	0	.	10.7364	0.46128	0.2101:0.0:0.7899:0.0	.	439	Q13203	MYBPH_HUMAN	I	439	ENSP00000255416:L439I	ENSP00000255416:L439I	L	-	1	2	MYBPH	201404759	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	5.460000	0.66691	0.633000	0.30452	0.655000	0.94253	CTA		0.562	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1	NM_004997		19	181	1	0	1.50039e-11	0.012319	2.25707e-11	19	181				
ZC3H11A	9877	broad.mit.edu	37	1	203816441	203816441	+	Missense_Mutation	SNP	C	C	T	rs377347780		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:203816441C>T	ENST00000545588.1	+	12	4999	c.1172C>T	c.(1171-1173)tCt>tTt	p.S391F	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.S391F|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.S391F|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.S391F|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.S391F	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	391					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S391F(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACTGATGATTCTACTTCAGGA	0.418																																							uc001hac.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(1171-1173)TCT>TTT		zinc finger CCCH-type containing 11A		C	PHE/SER	1,4405	2.1+/-5.4	0,1,2202	43.0	44.0	44.0		1172	5.7	1.0	1		44	0,8596		0,0,4298	no	missense	ZC3H11A	NM_014827.4	155	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	benign	391/811	203816441	1,13001	2203	4298	6501	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203816441C>T		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.1172C>T	1.37:g.203816441C>T	ENSP00000438527:p.Ser391Phe					ZC3H11A_uc001had.2_Missense_Mutation_p.S391F|ZC3H11A_uc001hae.2_Missense_Mutation_p.S391F|ZC3H11A_uc001haf.2_Missense_Mutation_p.S391F|ZC3H11A_uc010pqm.1_Missense_Mutation_p.S337F|ZC3H11A_uc001hag.1_Missense_Mutation_p.S391F	p.S391F	NM_014827	NP_055642	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		15	1788	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		391			Potential.		Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.1172C>T	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958423	0.53400	2.27E-4	0.0	ENSG00000058673	ENST00000453771;ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.65	5.65	0.86999	.	0.519989	0.21175	N	0.078907	T	0.43500	0.1250	L	0.41027	1.25	0.43430	D	0.995596	B	0.11235	0.004	B	0.13407	0.009	T	0.27123	-1.0083	10	0.59425	D	0.04	-0.727	16.6589	0.85236	0.0:1.0:0.0:0.0	.	391	O75152	ZC11A_HUMAN	F	391;391;337;391;391;391;391	ENSP00000356183:S391F;ENSP00000356181:S391F;ENSP00000333253:S391F;ENSP00000438527:S391F;ENSP00000356179:S391F	ENSP00000333253:S391F	S	+	2	0	ZC3H11A	202083064	0.874000	0.30092	0.954000	0.39281	0.977000	0.68977	2.792000	0.47837	2.666000	0.90696	0.650000	0.86243	TCT		0.418	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		5	46	0	0	0	0.000602	0	5	46				
IKBKE	9641	broad.mit.edu	37	1	206667311	206667311	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:206667311C>T	ENST00000367120.3	+	21	2477	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C	IKBKE_ENST00000537984.1_Missense_Mutation_p.R617C|C1orf147_ENST00000367119.1_Intron	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	702					immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)	p.R702C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GGACAACAACCGCATCATCGA	0.602																																							uc001hdz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|central_nervous_system(1)|skin(1)	8						c.(2104-2106)CGC>TGC		IKK-related kinase epsilon							119.0	96.0	104.0					1																	206667311		2203	4300	6503	SO:0001583	missense	9641				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	g.chr1:206667311C>T	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.2104C>T	1.37:g.206667311C>T	ENSP00000356087:p.Arg702Cys					IKBKE_uc009xbv.1_3'UTR|IKBKE_uc001hea.1_Missense_Mutation_p.R617C	p.R702C	NM_014002	NP_054721	Q14164	IKKE_HUMAN			21	2472	+	Breast(84;0.137)		702					D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	c.2104C>T	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	C	6.113	0.389030	0.11581	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.63417	-0.04;0.11	5.31	1.05	0.20165	.	0.820911	0.10990	N	0.611687	T	0.48589	0.1508	L	0.44542	1.39	0.21652	N	0.999607	B	0.19073	0.033	B	0.04013	0.001	T	0.42682	-0.9437	10	0.56958	D	0.05	-5.7433	3.9571	0.09395	0.3278:0.4928:0.0:0.1794	.	702	Q14164	IKKE_HUMAN	C	702;617	ENSP00000356087:R702C;ENSP00000444529:R617C	ENSP00000356087:R702C	R	+	1	0	IKBKE	204733934	0.159000	0.22864	0.974000	0.42286	0.038000	0.13279	0.379000	0.20585	0.227000	0.20999	0.561000	0.74099	CGC		0.602	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1			8	70	0	0	0	0.008291	0	8	70				
CR1L	1379	broad.mit.edu	37	1	207896969	207896969	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:207896969A>C	ENST00000508064.2	+	12	1709	c.1649A>C	c.(1648-1650)cAt>cCt	p.H550P		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	550						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)		p.H550P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTAGGTTCACATGATGCTCTT	0.348																																							uc001hga.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1648-1650)CAT>CCT		complement component (3b/4b) receptor 1-like							214.0	186.0	195.0					1																	207896969		1860	4112	5972	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207896969A>C	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1649A>C	1.37:g.207896969A>C	ENSP00000421736:p.His550Pro					CR1L_uc001hgb.1_RNA	p.H550P	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN			12	1770	+			550					Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.1649A>C	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	A	5.380	0.255340	0.10185	.	.	ENSG00000197721	ENST00000508064	T	0.32753	1.44	1.9	-3.73	0.04398	.	.	.	.	.	T	0.04588	0.0125	N	0.00263	-1.745	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28902	-1.0029	9	0.02654	T	1	.	2.4611	0.04541	0.3922:0.0:0.3816:0.2263	.	550	Q2VPA4	CR1L_HUMAN	P	550	ENSP00000421736:H550P	ENSP00000421736:H550P	H	+	2	0	CR1L	205963592	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.702000	0.05069	-0.865000	0.04073	0.260000	0.18958	CAT		0.348	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		3	24	0	0	0	0.000602	0	3	24				
USH2A	7399	broad.mit.edu	37	1	215848726	215848726	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:215848726G>T	ENST00000307340.3	-	63	12913	c.12527C>A	c.(12526-12528)tCt>tAt	p.S4176Y	USH2A_ENST00000366943.2_Missense_Mutation_p.S4176Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4176	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.S4176Y(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)		AACAGGCTCAGACCAGCTCAG	0.527										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(12526-12528)TCT>TAT		usherin isoform B							86.0	86.0	86.0					1																	215848726		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848726G>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.12527C>A	1.37:g.215848726G>T	ENSP00000305941:p.Ser4176Tyr	HNSCC(13;0.011)					p.S4176Y	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	12914	-			4176			Extracellular (Potential).|Fibronectin type-III 27.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.12527C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576639	0.65878	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.59772	0.24;0.24	5.25	5.25	0.73442	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.198919	0.25813	N	0.028126	T	0.71651	0.3365	M	0.70595	2.14	0.30658	N	0.754651	D	0.58620	0.983	P	0.62649	0.905	T	0.74225	-0.3734	10	0.66056	D	0.02	.	12.6686	0.56855	0.0859:0.0:0.9141:0.0	.	4176	O75445	USH2A_HUMAN	Y	4176	ENSP00000305941:S4176Y;ENSP00000355910:S4176Y	ENSP00000305941:S4176Y	S	-	2	0	USH2A	213915349	0.547000	0.26465	0.891000	0.34965	0.983000	0.72400	2.764000	0.47613	2.454000	0.82982	0.650000	0.86243	TCT		0.527	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		37	152	1	0	5.71845e-15	0.005524	9.1706e-15	37	152				
USH2A	7399	broad.mit.edu	37	1	215960039	215960039	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:215960039C>A	ENST00000307340.3	-	52	10746	c.10360G>T	c.(10360-10362)Ggg>Tgg	p.G3454W	USH2A_ENST00000366943.2_Missense_Mutation_p.G3454W	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3454	Fibronectin type-III 19. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.G3454W(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)		TTTACACTCCCTGTATGAATG	0.433										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(10360-10362)GGG>TGG		usherin isoform B							179.0	148.0	158.0					1																	215960039		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215960039C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10360G>T	1.37:g.215960039C>A	ENSP00000305941:p.Gly3454Trp	HNSCC(13;0.011)					p.G3454W	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	52	10747	-			3454			Fibronectin type-III 19.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.10360G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.200007	0.38905	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.15718	2.4;2.41	4.88	4.88	0.63580	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.44483	D	0.000459	T	0.43255	0.1239	M	0.77103	2.36	0.42793	D	0.993902	D	0.89917	1.0	D	0.72625	0.978	T	0.40776	-0.9545	10	0.48119	T	0.1	.	16.2364	0.82377	0.0:1.0:0.0:0.0	.	3454	O75445	USH2A_HUMAN	W	3454	ENSP00000305941:G3454W;ENSP00000355910:G3454W	ENSP00000305941:G3454W	G	-	1	0	USH2A	214026662	0.981000	0.34729	0.017000	0.16124	0.119000	0.20118	4.367000	0.59498	2.225000	0.72522	0.655000	0.94253	GGG		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		31	96	1	0	7.11191e-15	0.002836	1.13878e-14	31	96				
USH2A	7399	broad.mit.edu	37	1	216251676	216251676	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:216251676A>T	ENST00000307340.3	-	27	5713	c.5327T>A	c.(5326-5328)tTc>tAc	p.F1776Y	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.F1776Y|RP11-22M7.2_ENST00000445619.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1776	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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.F1776Y(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)		ATTTAACCGGAAGGTCAATAT	0.373										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(5326-5328)TTC>TAC		usherin isoform B							195.0	215.0	209.0					1																	216251676		2203	4299	6502	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216251676A>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.5327T>A	1.37:g.216251676A>T	ENSP00000305941:p.Phe1776Tyr	HNSCC(13;0.011)					p.F1776Y	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	27	5714	-			1776			Laminin G-like 2.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5327T>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.866552	0.51588	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.79554	-1.28;-1.28	5.58	4.44	0.53790	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.328311	0.21954	N	0.066682	D	0.84911	0.5577	M	0.67953	2.075	0.09310	N	1	D	0.63880	0.993	D	0.65140	0.932	T	0.74386	-0.3682	10	0.31617	T	0.26	.	7.3268	0.26560	0.7815:0.1462:0.0722:0.0	.	1776	O75445	USH2A_HUMAN	Y	1776	ENSP00000305941:F1776Y;ENSP00000355910:F1776Y	ENSP00000305941:F1776Y	F	-	2	0	USH2A	214318299	1.000000	0.71417	0.104000	0.21259	0.987000	0.75469	5.965000	0.70387	0.930000	0.37217	0.528000	0.53228	TTC		0.373	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		15	506	0	0	0	0.00499	0	15	506				
USH2A	7399	broad.mit.edu	37	1	216258133	216258133	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:216258133C>G	ENST00000307340.3	-	25	5460	c.5074G>C	c.(5074-5076)Gat>Cat	p.D1692H	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.D1692H|RP11-22M7.2_ENST00000445619.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1692	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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.D1692H(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)		CTCTGCCAATCCAGAGGTTCC	0.433										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(5074-5076)GAT>CAT		usherin isoform B							119.0	118.0	118.0					1																	216258133		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216258133C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5074G>C	1.37:g.216258133C>G	ENSP00000305941:p.Asp1692His	HNSCC(13;0.011)					p.D1692H	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	25	5461	-			1692			Laminin G-like 1.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5074G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601844	0.66445	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;D	0.83075	-1.68;-1.68	4.93	2.97	0.34412	Concanavalin A-like lectin/glucanase (1);Fibronectin, type III (1);Laminin G domain (1);	0.710986	0.12007	N	0.508258	T	0.79776	0.4504	L	0.50333	1.59	0.38661	D	0.95208	P	0.43169	0.8	B	0.43916	0.436	T	0.78028	-0.2364	10	0.54805	T	0.06	.	7.6393	0.28284	0.0:0.7007:0.136:0.1633	.	1692	O75445	USH2A_HUMAN	H	1692	ENSP00000305941:D1692H;ENSP00000355910:D1692H	ENSP00000305941:D1692H	D	-	1	0	USH2A	214324756	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.864000	0.39469	1.079000	0.41038	0.650000	0.86243	GAT		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		9	144	0	0	0	0.004482	0	9	144				
USH2A	7399	broad.mit.edu	37	1	216371752	216371752	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:216371752A>T	ENST00000307340.3	-	18	4372	c.3986T>A	c.(3985-3987)tTg>tAg	p.L1329*	USH2A_ENST00000366942.3_Nonsense_Mutation_p.L1329*|USH2A_ENST00000366943.2_Nonsense_Mutation_p.L1329*|RP5-1099E6.3_ENST00000420867.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1329	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.L1329*(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)		GTATGGCTCCAAGCCAGTGAT	0.443										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(3985-3987)TTG>TAG		usherin isoform B							135.0	125.0	129.0					1																	216371752		2203	4300	6503	SO:0001587	stop_gained	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.chr1:216371752A>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.3986T>A	1.37:g.216371752A>T	ENSP00000305941:p.Leu1329*	HNSCC(13;0.011)				USH2A_uc001hkv.2_Nonsense_Mutation_p.L1329*	p.L1329*	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	18	4373	-			1329			Fibronectin type-III 3.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.3986T>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	45	11.865584	0.99612	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	.	.	.	5.69	4.54	0.55810	.	0.000000	0.32258	N	0.006360	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8363	0.57775	0.8636:0.1364:0.0:0.0	.	.	.	.	X	1329	.	ENSP00000305941:L1329X	L	-	2	0	USH2A	214438375	1.000000	0.71417	0.997000	0.53966	0.541000	0.35023	4.808000	0.62583	0.945000	0.37605	0.528000	0.53228	TTG		0.443	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		6	112	0	0	0	0.001168	0	6	112				
WDR26	80232	broad.mit.edu	37	1	224586245	224586245	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:224586245C>T	ENST00000414423.2	-	11	1809	c.1616G>A	c.(1615-1617)cGa>cAa	p.R539Q	WDR26_ENST00000295024.6_Missense_Mutation_p.R392Q|WDR26_ENST00000479727.1_5'UTR|WDR26_ENST00000366852.2_3'UTR|MIR4742_ENST00000581069.1_RNA	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	539						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R392Q(1)|p.R539Q(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		CAAAGCTAATCGGCCATTTTT	0.279																																							uc001hop.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1174-1176)CGA>CAA		WD repeat domain 26 isoform a							53.0	57.0	55.0					1																	224586245		2201	4285	6486	SO:0001583	missense	80232					cytoplasm|nucleus		g.chr1:224586245C>T	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1616G>A	1.37:g.224586245C>T	ENSP00000408108:p.Arg539Gln					WDR26_uc001hoq.3_Missense_Mutation_p.R376Q|WDR26_uc010pvh.1_Missense_Mutation_p.R99Q	p.R392Q	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	11	1541	-			539			WD 4.		A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	c.1175G>A	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	C	35	5.536287	0.96460	.	.	ENSG00000162923	ENST00000414423;ENST00000295024	T;T	0.81330	-1.48;-1.48	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.89504	0.6734	M	0.83483	2.645	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	D	0.87018	0.2127	10	0.21540	T	0.41	.	19.0355	0.92976	0.0:1.0:0.0:0.0	.	523	Q9H7D7-2	.	Q	539;392	ENSP00000408108:R539Q;ENSP00000295024:R392Q	ENSP00000295024:R392Q	R	-	2	0	WDR26	222652868	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.028000	0.70889	2.581000	0.87130	0.655000	0.94253	CGA		0.279	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		4	94	0	0	0	0.001168	0	4	94				
PRSS38	339501	broad.mit.edu	37	1	228003815	228003815	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:228003815G>T	ENST00000366757.3	+	2	197	c.173G>T	c.(172-174)gGg>gTg	p.G58V		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	58						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.G58V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGCATGGAGGGGAAAATCCTG	0.692																																							uc001hrh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(172-174)GGG>GTG		marapsin 2 precursor							57.0	64.0	61.0					1																	228003815		2203	4300	6503	SO:0001583	missense	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228003815G>T		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.173G>T	1.37:g.228003815G>T	ENSP00000355719:p.Gly58Val						p.G58V	NM_183062	NP_898885	A1L453	PRS38_HUMAN			2	173	+			58					Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	c.173G>T	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484200	0.44147	.	.	ENSG00000185888	ENST00000366757	T	0.62364	0.03	4.13	3.18	0.36537	Peptidase cysteine/serine, trypsin-like (1);	0.177074	0.27535	N	0.018938	T	0.63616	0.2526	L	0.27053	0.805	0.25588	N	0.98672	D	0.89917	1.0	D	0.87578	0.998	T	0.52601	-0.8554	10	0.72032	D	0.01	.	6.8594	0.24058	0.0:0.1956:0.6028:0.2016	.	58	A1L453	PRS38_HUMAN	V	58	ENSP00000355719:G58V	ENSP00000355719:G58V	G	+	2	0	PRSS38	226070438	0.000000	0.05858	0.097000	0.21041	0.042000	0.13812	0.531000	0.23052	0.905000	0.36596	0.467000	0.42956	GGG		0.692	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		14	77	1	0	3.99206e-14	0.007413	6.30516e-14	14	77				
PRSS38	339501	broad.mit.edu	37	1	228003884	228003884	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:228003884G>T	ENST00000366757.3	+	2	266	c.242G>T	c.(241-243)gGc>gTc	p.G81V		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	81	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.G81V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CACTACGCAGGCCTCCACGTC	0.672																																							uc001hrh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(241-243)GGC>GTC		marapsin 2 precursor							62.0	71.0	68.0					1																	228003884		2203	4294	6497	SO:0001583	missense	339501				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:228003884G>T		CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.242G>T	1.37:g.228003884G>T	ENSP00000355719:p.Gly81Val						p.G81V	NM_183062	NP_898885	A1L453	PRS38_HUMAN			2	242	+			81			Peptidase S1.		Q7RTY6	Missense_Mutation	SNP	ENST00000366757.3	37	c.242G>T	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467578	0.26335	.	.	ENSG00000185888	ENST00000366757	D	0.89415	-2.51	4.13	3.18	0.36537	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.362205	0.20377	N	0.093522	D	0.94470	0.8220	M	0.89095	3.005	0.26280	N	0.978287	D	0.89917	1.0	D	0.81914	0.995	D	0.88041	0.2781	10	0.87932	D	0	.	11.2922	0.49256	0.0:0.1865:0.8135:0.0	.	81	A1L453	PRS38_HUMAN	V	81	ENSP00000355719:G81V	ENSP00000355719:G81V	G	+	2	0	PRSS38	226070507	0.983000	0.35010	0.014000	0.15608	0.067000	0.16453	3.821000	0.55700	0.893000	0.36288	0.467000	0.42956	GGC		0.672	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1	NM_183062		16	72	1	0	2.39187e-15	0.008871	3.87751e-15	16	72				
OBSCN	84033	broad.mit.edu	37	1	228495862	228495862	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:228495862G>T	ENST00000422127.1	+	47	12561	c.12517G>T	c.(12517-12519)Gat>Tat	p.D4173Y	OBSCN_ENST00000366709.4_Missense_Mutation_p.D1292Y|OBSCN_ENST00000284548.11_Missense_Mutation_p.D4173Y|OBSCN_ENST00000366707.4_Missense_Mutation_p.D1807Y|OBSCN_ENST00000570156.2_Missense_Mutation_p.D5130Y	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4173	Ig-like 43.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.D4755Y(1)|p.D4173Y(1)|p.D4885Y(1)		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)				GGTGACGGCCGATGAGGATGT	0.592																																							uc009xez.1		NA																	3	Substitution - Missense(3)		lung(3)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(12517-12519)GAT>TAT		obscurin, cytoskeletal calmodulin and							91.0	103.0	99.0					1																	228495862		2168	4257	6425	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.chr1:228495862G>T	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.12517G>T	1.37:g.228495862G>T	ENSP00000409493:p.Asp4173Tyr					OBSCN_uc001hsn.2_Missense_Mutation_p.D4173Y	p.D4173Y	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			47	12561	+		Prostate(94;0.0405)	4173			Ig-like 43.		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.12517G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929994	0.34096	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	6.04	4.16	0.48862	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.331754	0.26620	N	0.023377	T	0.80999	0.4732	M	0.77313	2.365	0.09310	N	1	P;D	0.89917	0.941;1.0	P;D	0.71656	0.687;0.974	T	0.74791	-0.3545	10	0.59425	D	0.04	.	14.6889	0.69070	0.0618:0.107:0.8312:0.0	.	4173;4173	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Y	4173;4173;1807;1292	ENSP00000284548:D4173Y;ENSP00000409493:D4173Y;ENSP00000355668:D1807Y;ENSP00000355670:D1292Y	ENSP00000284548:D4173Y	D	+	1	0	OBSCN	226562485	0.838000	0.29461	0.006000	0.13384	0.000000	0.00434	4.754000	0.62191	0.453000	0.26858	-1.119000	0.02030	GAT		0.592	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		31	55	1	0	4.15321e-07	0.009535	5.41994e-07	31	55				
URB2	9816	broad.mit.edu	37	1	229771856	229771856	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:229771856C>T	ENST00000258243.2	+	4	1632	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	499						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.S499F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACGGTACTCTCTGCATGCCTC	0.577																																							uc001hts.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1495-1497)TCT>TTT		URB2 ribosome biogenesis 2 homolog							113.0	118.0	116.0					1																	229771856		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229771856C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1496C>T	1.37:g.229771856C>T	ENSP00000258243:p.Ser499Phe					URB2_uc009xfd.1_Missense_Mutation_p.S499F	p.S499F	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	1632	+			499					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.1496C>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	4.911	0.169357	0.09339	.	.	ENSG00000135763	ENST00000258243	T	0.33216	1.42	5.35	0.996	0.19844	.	1.134710	0.06163	N	0.676348	T	0.23094	0.0558	L	0.34521	1.04	0.09310	N	1	B	0.33448	0.412	B	0.27887	0.084	T	0.24261	-1.0165	9	.	.	.	0.0631	11.0794	0.48051	0.0671:0.3671:0.5657:0.0	.	499	Q14146	URB2_HUMAN	F	499	ENSP00000258243:S499F	.	S	+	2	0	URB2	227838479	0.357000	0.24938	0.001000	0.08648	0.004000	0.04260	1.775000	0.38584	0.327000	0.23409	-0.153000	0.13522	TCT		0.577	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		5	176	0	0	0	0.001168	0	5	176				
GNPAT	8443	broad.mit.edu	37	1	231406679	231406679	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:231406679G>T	ENST00000366647.4	+	10	1624	c.1455G>T	c.(1453-1455)ctG>ctT	p.L485L	GNPAT_ENST00000366646.3_Silent_p.L424L	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	485					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.L485L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GGAACCAGCTGCTCAACATTT	0.473																																							uc001hup.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(1453-1455)CTG>CTT		glyceronephosphate O-acyltransferase							165.0	149.0	154.0					1																	231406679		2203	4300	6503	SO:0001819	synonymous_variant	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231406679G>T	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1455G>T	1.37:g.231406679G>T						GNPAT_uc009xfp.2_Silent_p.L424L	p.L485L	NM_014236	NP_055051	O15228	GNPAT_HUMAN			10	1661	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	485					B4DNM9|Q5TBH7|Q9BWC2	Silent	SNP	ENST00000366647.4	37	c.1455G>T	CCDS1592.1																																																																																				0.473	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			48	140	1	0	2.46787e-29	0.00361	4.37429e-29	48	140				
TARBP1	6894	broad.mit.edu	37	1	234529421	234529421	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:234529421G>A	ENST00000040877.1	-	27	4405	c.4406C>T	c.(4405-4407)tCg>tTg	p.S1469L	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1469					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GTCGATGAGCGAGGCCACAAC	0.458																																							uc001hwd.2		NA																	0				ovary(2)|skin(1)	3						c.(4405-4407)TCG>TTG		TAR RNA binding protein 1							85.0	84.0	85.0					1																	234529421		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234529421G>A		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4406C>T	1.37:g.234529421G>A	ENSP00000040877:p.Ser1469Leu						p.S1469L	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		27	4406	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1469					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.4406C>T	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626341	0.66901	.	.	ENSG00000059588	ENST00000040877	T	0.28454	1.61	4.66	4.66	0.58398	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.64402	D	0.000001	T	0.65943	0.2740	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76451	-0.2954	10	0.87932	D	0	-6.7413	17.7183	0.88344	0.0:0.0:1.0:0.0	.	1469	Q13395	TARB1_HUMAN	L	1469	ENSP00000040877:S1469L	ENSP00000040877:S1469L	S	-	2	0	TARBP1	232596044	1.000000	0.71417	0.992000	0.48379	0.049000	0.14656	9.016000	0.93645	2.405000	0.81733	0.650000	0.86243	TCG		0.458	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		5	140	0	0	0	0.001168	0	5	140				
IRF2BP2	359948	broad.mit.edu	37	1	234743041	234743041	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:234743041G>T	ENST00000366609.3	-	2	1636	c.1606C>A	c.(1606-1608)Caa>Aaa	p.Q536K	IRF2BP2_ENST00000366610.3_Missense_Mutation_p.Q520K|RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000491430.1_5'UTR	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	536	Cys-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.Q536K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			TTGATGCTTTGTCTGGAGCAA	0.582																																							uc001hwg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1606-1608)CAA>AAA		interferon regulatory factor 2 binding protein 2							81.0	88.0	85.0					1																	234743041		2203	4300	6503	SO:0001583	missense	359948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:234743041G>T	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.1606C>A	1.37:g.234743041G>T	ENSP00000355568:p.Gln536Lys					IRF2BP2_uc009xfw.2_Missense_Mutation_p.Q146K|IRF2BP2_uc001hwf.2_Missense_Mutation_p.Q520K	p.Q536K	NM_182972	NP_892017	Q7Z5L9	I2BP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)		2	1637	-	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	536			Cys-rich.		B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Missense_Mutation	SNP	ENST00000366609.3	37	c.1606C>A	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331282	0.60853	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	T;T	0.28895	1.59;1.6	5.76	5.76	0.90799	.	0.055749	0.64402	D	0.000001	T	0.26738	0.0654	L	0.29908	0.895	0.52099	D	0.999944	P;P	0.47106	0.824;0.89	B;B	0.40677	0.182;0.337	T	0.01496	-1.1340	10	0.22706	T	0.39	-5.0227	19.943	0.97172	0.0:0.0:1.0:0.0	.	536;520	Q7Z5L9;Q7Z5L9-2	I2BP2_HUMAN;.	K	520;536	ENSP00000355569:Q520K;ENSP00000355568:Q536K	ENSP00000355568:Q536K	Q	-	1	0	IRF2BP2	232809664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.809000	0.62591	2.722000	0.93159	0.650000	0.86243	CAA		0.582	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000092705.1	NM_182972		22	120	1	0	6.44725e-10	0.002299	9.24578e-10	22	120				
LYST	1130	broad.mit.edu	37	1	235976294	235976294	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:235976294G>A	ENST00000389794.3	-	4	434	c.260C>T	c.(259-261)cCt>cTt	p.P87L	LYST_ENST00000536965.1_Missense_Mutation_p.P87L|LYST_ENST00000389793.2_Missense_Mutation_p.P87L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	87					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.P87L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCTTGGACAGGTATCTTCCA	0.373																																							uc001hxj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(259-261)CCT>CTT		lysosomal trafficking regulator							91.0	87.0	88.0					1																	235976294		2203	4300	6503	SO:0001583	missense	1130	Chediak-Higashsyndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235976294G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.260C>T	1.37:g.235976294G>A	ENSP00000374444:p.Pro87Leu					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.P87L	p.P87L	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		4	435	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	87					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.260C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821772	0.90873	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	D;D;T	0.84516	-1.86;-1.86;0.24	5.63	5.63	0.86233	.	0.099762	0.64402	D	0.000001	D	0.91774	0.7398	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91462	0.5190	10	0.62326	D	0.03	.	20.0572	0.97657	0.0:0.0:1.0:0.0	.	87;87	Q99698-3;Q99698	.;LYST_HUMAN	L	87	ENSP00000374444:P87L;ENSP00000374443:P87L;ENSP00000438315:P87L	ENSP00000374443:P87L	P	-	2	0	LYST	234042917	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	9.375000	0.97178	2.826000	0.97356	0.655000	0.94253	CCT		0.373	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			6	26	0	0	0	0.001168	0	6	26				
ZP4	57829	broad.mit.edu	37	1	238049056	238049056	+	Splice_Site	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:238049056C>G	ENST00000366570.4	-	7	1128	c.970G>C	c.(970-972)Gat>Cat	p.D324H	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	324	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.D324H(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGGGTCATACCTTTGGCAATC	0.507																																					NSCLC(166;160 2029 11600 18754 19936)	NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(970-972)GAT>CAT		zona pellucida glycoprotein 4 preproprotein							98.0	98.0	98.0					1																	238049056		2203	4300	6503	SO:0001630	splice_region_variant	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238049056C>G	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.970+1G>C	1.37:g.238049056C>G						LOC100130331_uc010pyc.1_Intron	p.D324H	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		7	970	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	324			ZP.|Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.970G>C	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738588	0.69304	.	.	ENSG00000116996	ENST00000366570	D	0.84298	-1.83	4.56	3.64	0.41730	Zona pellucida sperm-binding protein (3);	0.060842	0.64402	D	0.000004	D	0.93138	0.7815	M	0.92691	3.335	0.49915	D	0.999832	D	0.89917	1.0	D	0.97110	1.0	D	0.93432	0.6786	9	.	.	.	-12.5287	10.605	0.45390	0.0:0.9044:0.0:0.0956	.	324	Q12836	ZP4_HUMAN	H	324	ENSP00000355529:D324H	.	D	-	1	0	ZP4	236115679	1.000000	0.71417	0.986000	0.45419	0.979000	0.70002	2.773000	0.47686	1.048000	0.40298	0.655000	0.94253	GAT		0.507	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		Missense_Mutation	12	41	0	0	0	0.001368	0	12	41				
RGS7	6000	broad.mit.edu	37	1	241099998	241099998	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:241099998G>T	ENST00000407727.1	-	4	234	c.235C>A	c.(235-237)Ctc>Atc	p.L79I	RGS7_ENST00000331110.7_Missense_Mutation_p.L53I|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366565.1_Missense_Mutation_p.L79I|RGS7_ENST00000366563.1_Missense_Mutation_p.L79I|RGS7_ENST00000366562.4_Missense_Mutation_p.L79I|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366564.1_Missense_Mutation_p.L79I			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	79	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.L79I(2)|p.L79F(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CCCAAATGGAGCGCCTCCACT	0.388																																							uc001hyv.2		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(4)|skin(2)|kidney(1)	7						c.(235-237)CTC>ATC		regulator of G-protein signaling 7							71.0	78.0	75.0					1																	241099998		2203	4300	6503	SO:0001583	missense	6000				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	g.chr1:241099998G>T	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.235C>A	1.37:g.241099998G>T	ENSP00000384428:p.Leu79Ile					RGS7_uc010pyh.1_Missense_Mutation_p.L53I|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Missense_Mutation_p.L79I|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Missense_Mutation_p.L79I	p.L79I	NM_002924	NP_002915	P49802	RGS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.027)		5	565	-		all_cancers(173;0.0131)	79			DEP.		Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	ENST00000407727.1	37	c.235C>A		.	.	.	.	.	.	.	.	.	.	G	13.27	2.186667	0.38609	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000366562;ENST00000407727	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	5.52	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.11879	0.0289	N	0.04320	-0.23	0.80722	D	1	B;B;B;B	0.18610	0.008;0.029;0.007;0.016	B;B;B;B	0.29862	0.02;0.108;0.013;0.073	T	0.20107	-1.0285	10	0.19147	T	0.46	-21.3884	7.9931	0.30252	0.08:0.0:0.7601:0.1599	.	53;79;79;79	B7Z257;P49802-2;P49802-5;P49802-3	.;.;.;.	I	53;79;79;79;79;79	ENSP00000331485:L53I;ENSP00000355523:L79I;ENSP00000355522:L79I;ENSP00000355521:L79I;ENSP00000355520:L79I;ENSP00000384428:L79I	ENSP00000331485:L53I	L	-	1	0	RGS7	239166621	1.000000	0.71417	0.690000	0.30148	0.974000	0.67602	6.369000	0.73109	2.595000	0.87683	0.563000	0.77884	CTC		0.388	RGS7-204	KNOWN	basic	protein_coding	protein_coding		NM_002924		21	121	1	0	7.87624e-14	0.00278	1.23651e-13	21	121				
KMO	8564	broad.mit.edu	37	1	241731862	241731862	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:241731862C>A	ENST00000366559.4	+	10	1183	c.872C>A	c.(871-873)tCt>tAt	p.S291Y	KMO_ENST00000366558.3_Missense_Mutation_p.S291Y|KMO_ENST00000366557.4_Missense_Mutation_p.S291Y	NM_003679.4	NP_003670.2			kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)									p.S291Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GTAAAGTGCTCTTCATTTCAC	0.408																																							uc009xgp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(871-873)TCT>TAT		kynurenine 3-monooxygenase							185.0	170.0	175.0					1																	241731862		2203	4300	6503	SO:0001583	missense	8564				pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	g.chr1:241731862C>A	AF056032	CCDS1618.1	1q42-q44	2010-11-23			ENSG00000117009	ENSG00000117009	1.14.13.9		6381	protein-coding gene	gene with protein product		603538				9237672	Standard	NM_003679		Approved		uc009xgp.3	O15229	OTTHUMG00000039635	ENST00000366559.4:c.872C>A	1.37:g.241731862C>A	ENSP00000355517:p.Ser291Tyr					KMO_uc001hyy.2_Missense_Mutation_p.S291Y|KMO_uc009xgo.1_Missense_Mutation_p.S291Y	p.S291Y	NM_003679	NP_003670	O15229	KMO_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0176)		10	937	+	Ovarian(103;0.103)|all_lung(81;0.23)		291						Missense_Mutation	SNP	ENST00000366559.4	37	c.872C>A	CCDS1618.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645120	0.47258	.	.	ENSG00000117009	ENST00000366559;ENST00000366558;ENST00000366557	T;T;T	0.45276	0.9;0.9;0.9	5.8	5.8	0.92144	Monooxygenase, FAD-binding (1);	0.051280	0.85682	D	0.000000	T	0.40767	0.1130	L	0.48986	1.54	0.80722	D	1	P;B;P	0.42961	0.498;0.359;0.795	B;B;P	0.44359	0.331;0.331;0.447	T	0.23119	-1.0197	10	0.05351	T	0.99	.	17.5448	0.87858	0.0:1.0:0.0:0.0	.	291;291;291	O15229;A8K693;O15229-2	KMO_HUMAN;.;.	Y	291	ENSP00000355517:S291Y;ENSP00000355516:S291Y;ENSP00000355515:S291Y	ENSP00000355515:S291Y	S	+	2	0	KMO	239798485	1.000000	0.71417	0.999000	0.59377	0.647000	0.38526	4.725000	0.61979	2.740000	0.93945	0.650000	0.86243	TCT		0.408	KMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095612.1	NM_003679		11	99	1	0	3.07112e-06	0.010729	3.81242e-06	11	99				
PLD5	200150	broad.mit.edu	37	1	242264009	242264009	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:242264009G>C	ENST00000536534.2	-	9	1556	c.1315C>G	c.(1315-1317)Cgc>Ggc	p.R439G	PLD5_ENST00000442594.2_Missense_Mutation_p.R347G|PLD5_ENST00000427495.1_Missense_Mutation_p.R377G			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	439	PLD phosphodiesterase 2.					integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.R347G(1)|p.R439G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TACTTGTTGCGATTTAACCTA	0.443																																							uc001hzn.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(6)	6						c.(1315-1317)CGC>GGC		RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;							239.0	203.0	215.0					1																	242264009		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242264009G>C	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1315C>G	1.37:g.242264009G>C	ENSP00000440896:p.Arg439Gly					PLD5_uc001hzl.3_Missense_Mutation_p.R377G|PLD5_uc001hzm.3_Missense_Mutation_p.R229G|PLD5_uc001hzo.1_Missense_Mutation_p.R347G	p.R439G			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		9	1442	-	Melanoma(84;0.242)		439			PLD phosphodiesterase 2.		A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.1315C>G	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144077	0.57044	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.21734	1.99;1.99;1.99	5.5	4.56	0.56223	Phospholipase D/Transphosphatidylase (1);	0.221081	0.48286	D	0.000189	T	0.29976	0.0750	L	0.40543	1.245	0.41376	D	0.987529	D;D;D	0.61697	0.99;0.961;0.977	P;B;P	0.55303	0.773;0.392;0.691	T	0.02313	-1.1178	10	0.72032	D	0.01	-14.9538	13.746	0.62876	0.0:0.0:0.8469:0.1531	.	347;439;377	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	G	377;347;439	ENSP00000401285:R377G;ENSP00000414188:R347G;ENSP00000440896:R439G	ENSP00000401285:R377G	R	-	1	0	PLD5	240330632	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.934000	0.63491	2.578000	0.87016	0.650000	0.86243	CGC		0.443	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		6	84	0	0	0	0.001168	0	6	84				
C1orf101	257044	broad.mit.edu	37	1	244716057	244716057	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:244716057G>T	ENST00000366534.4	+	9	1024	c.970G>T	c.(970-972)Gat>Tat	p.D324Y	C1orf101_ENST00000366531.3_Missense_Mutation_p.D173Y|C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.D324Y	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	324						CatSper complex (GO:0036128)		p.D324Y(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AAATCTTCCTGATGGTGGAAT	0.289																																							uc001iam.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(970-972)GAT>TAT		hypothetical protein LOC257044 isoform 1							92.0	96.0	95.0					1																	244716057		2203	4300	6503	SO:0001583	missense	257044					integral to membrane		g.chr1:244716057G>T	BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.970G>T	1.37:g.244716057G>T	ENSP00000355492:p.Asp324Tyr					C1orf101_uc001iak.1_Intron|C1orf101_uc001ial.2_Missense_Mutation_p.D324Y|C1orf101_uc010pym.1_Missense_Mutation_p.D173Y|C1orf101_uc010pyn.1_Missense_Mutation_p.D257Y	p.D324Y	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)		9	1029	+	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		324			Extracellular (Potential).		B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	ENST00000366534.4	37	c.970G>T	CCDS44340.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484022	0.44147	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	T;T;T	0.35973	1.29;1.29;1.28	5.77	-0.591	0.11675	.	1.020610	0.07799	N	0.956156	T	0.40979	0.1139	L	0.39898	1.24	0.09310	N	1	P;P;P	0.52692	0.891;0.955;0.955	P;P;P	0.52267	0.694;0.643;0.542	T	0.45234	-0.9275	10	0.66056	D	0.02	.	11.171	0.48571	0.421:0.0:0.579:0.0	.	244;324;324	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	Y	324;324;324;244;173	ENSP00000355492:D324Y;ENSP00000355491:D324Y;ENSP00000395796:D244Y	ENSP00000355489:D173Y	D	+	1	0	C1orf101	242782680	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.332000	0.07904	-0.531000	0.06340	-0.797000	0.03246	GAT		0.289	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096701.1	NM_173807		7	79	1	0	1.04858e-14	0.006214	1.67387e-14	7	79				
OR2M3	127062	broad.mit.edu	37	1	248366415	248366415	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:248366415G>T	ENST00000456743.1	+	1	84	c.46G>T	c.(46-48)Gga>Tga	p.G16*		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATCCTCCTGGGAATCTTCAA	0.463																																							uc010pzg.1		NA																	0				ovary(1)|skin(1)	2						c.(46-48)GGA>TGA		olfactory receptor, family 2, subfamily M,							216.0	219.0	218.0					1																	248366415		2203	4300	6503	SO:0001587	stop_gained	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366415G>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.46G>T	1.37:g.248366415G>T	ENSP00000389625:p.Gly16*						p.G16*	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	46	+	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)		16			Extracellular (Potential).		B9EH06|Q6IEY0	Nonsense_Mutation	SNP	ENST00000456743.1	37	c.46G>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617382	0.66672	.	.	ENSG00000228198	ENST00000456743	.	.	.	2.61	2.61	0.31194	.	0.000000	0.31636	U	0.007306	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.245	0.60018	0.0:0.0:1.0:0.0	.	.	.	.	X	16	.	ENSP00000389625:G16X	G	+	1	0	OR2M3	246433038	0.963000	0.33076	0.022000	0.16811	0.192000	0.23643	4.317000	0.59184	1.475000	0.48197	0.398000	0.26397	GGA		0.463	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		24	311	1	0	9.57634e-11	0.00333	1.40615e-10	24	311				
OR2T33	391195	broad.mit.edu	37	1	248436683	248436683	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:248436683G>T	ENST00000318021.2	-	1	455	c.434C>A	c.(433-435)tCg>tAg	p.S145*		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S145*(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			GAGCCAACACGACATGGTCAT	0.577																																							uc010pzi.1		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(433-435)TCG>TAG		olfactory receptor, family 2, subfamily T,							145.0	137.0	140.0					1																	248436683		2203	4300	6503	SO:0001587	stop_gained	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436683G>T		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.434C>A	1.37:g.248436683G>T	ENSP00000324687:p.Ser145*						p.S145*	NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	434	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		145			Helical; Name=4; (Potential).		B2RNN0	Nonsense_Mutation	SNP	ENST00000318021.2	37	c.434C>A	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	6.538	0.467590	0.12402	.	.	ENSG00000177212	ENST00000318021	.	.	.	2.7	-0.748	0.11087	.	1.181920	0.06684	U	0.768411	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	4.0715	0.09884	0.1441:0.47:0.2926:0.0932	.	.	.	.	X	145	.	ENSP00000324687:S145X	S	-	2	0	OR2T33	246503306	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.490000	0.00453	-0.338000	0.08413	-2.829000	0.00107	TCG		0.577	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		27	183	1	0	3.65163e-15	0.00632	5.89227e-15	27	183				
OR2M7	391196	broad.mit.edu	37	1	248487751	248487751	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:248487751C>A	ENST00000317965.2	-	1	148	c.120G>T	c.(118-120)atG>atT	p.M40I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	40						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(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			TGGAGTTTCCCATGAAGGCCA	0.527																																							uc010pzk.1		NA																	0				skin(2)	2						c.(118-120)ATG>ATT		olfactory receptor, family 2, subfamily M,							269.0	261.0	264.0					1																	248487751		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487751C>A	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.120G>T	1.37:g.248487751C>A	ENSP00000324557:p.Met40Ile						p.M40I	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	120	-	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)		40			Helical; Name=1; (Potential).		B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.120G>T	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	C	0.036	-1.305980	0.01353	.	.	ENSG00000177186	ENST00000317965	T	0.00433	7.43	1.55	-0.391	0.12446	.	1.173110	0.06729	N	0.776331	T	0.00178	0.0005	N	0.13043	0.29	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.30707	-0.9969	10	0.05721	T	0.95	.	4.727	0.12946	0.0:0.5514:0.1899:0.2587	.	40	Q8NG81	OR2M7_HUMAN	I	40	ENSP00000324557:M40I	ENSP00000324557:M40I	M	-	3	0	OR2M7	246554374	0.000000	0.05858	0.050000	0.19076	0.294000	0.27393	-0.751000	0.04803	0.005000	0.14708	0.194000	0.17425	ATG		0.527	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		79	257	1	0	3.12118e-38	0.00361	5.63757e-38	79	257				
OR2T34	127068	broad.mit.edu	37	1	248738024	248738024	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:248738024G>A	ENST00000328782.2	-	1	56	c.35C>T	c.(34-36)aCa>aTa	p.T12I		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T12I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	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;0.0265)			AGTGCTTGCTGTTTGATTCTG	0.458																																							uc001iep.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(34-36)ACA>ATA		olfactory receptor, family 2, subfamily T,							37.0	52.0	47.0					1																	248738024		2075	4270	6345	SO:0001583	missense	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248738024G>A	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.35C>T	1.37:g.248738024G>A	ENSP00000330904:p.Thr12Ile						p.T12I	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	35	-	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)		12			Extracellular (Potential).		B2RNJ8|Q6IEY5|Q96R31	Missense_Mutation	SNP	ENST00000328782.2	37	c.35C>T	CCDS31120.1	.	.	.	.	.	.	.	.	.	.	.	12.41	1.930879	0.34096	.	.	ENSG00000183310	ENST00000328782	T	0.54675	0.56	1.11	1.11	0.20524	.	.	.	.	.	T	0.71719	0.3373	M	0.93150	3.385	0.09310	N	1	D	0.56287	0.975	P	0.55667	0.781	T	0.62756	-0.6787	9	0.87932	D	0	.	9.9116	0.41408	0.0:0.0:1.0:0.0	.	12	Q8NGX1	O2T34_HUMAN	I	12	ENSP00000330904:T12I	ENSP00000330904:T12I	T	-	2	0	OR2T34	246804647	0.008000	0.16893	0.003000	0.11579	0.059000	0.15707	-0.207000	0.09384	0.948000	0.37687	0.134000	0.15878	ACA		0.458	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		5	86	0	0	0	0.001984	0	5	86				
OR2T11	127077	broad.mit.edu	37	1	248789921	248789921	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:248789921C>A	ENST00000330803.2	-	1	570	c.509G>T	c.(508-510)aGt>aTt	p.S170I		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S170I(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			ATGGTTGATACTTCGGGAGCC	0.507																																							uc001ier.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(508-510)AGT>ATT		olfactory receptor, family 2, subfamily T,							54.0	60.0	58.0					1																	248789921		2049	4231	6280	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248789921C>A	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.509G>T	1.37:g.248789921C>A	ENSP00000328934:p.Ser170Ile						p.S170I	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	509	-	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)		170			Extracellular (Potential).		Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.509G>T	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	4.825	0.153432	0.09185	.	.	ENSG00000183130	ENST00000330803	T	0.00026	8.94	4.38	-6.32	0.01995	GPCR, rhodopsin-like superfamily (1);	1.588300	0.03766	N	0.258998	T	0.00039	0.0001	N	0.00750	-1.22	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.35871	-0.9771	10	0.59425	D	0.04	.	1.1653	0.01814	0.1941:0.1403:0.2744:0.3912	.	170	Q8NH01	O2T11_HUMAN	I	170	ENSP00000328934:S170I	ENSP00000328934:S170I	S	-	2	0	OR2T11	246856544	0.000000	0.05858	0.000000	0.03702	0.151000	0.21798	-2.152000	0.01288	-0.850000	0.04152	0.655000	0.94253	AGT		0.507	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		18	72	1	0	5.35267e-07	0.007413	6.93323e-07	18	72				
TUBB8	347688	broad.mit.edu	37	10	94593	94593	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:94593G>A	ENST00000309812.4	-	3	301	c.239C>T	c.(238-240)cCc>cTc	p.P80L	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_Missense_Mutation_p.P44S|TUBB8_ENST00000447903.2_Missense_Mutation_p.P8L	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	80					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CTGCCCGAAGGGCCCCGAGCG	0.667																																					Pancreas(192;2041 3010 9013 18103)	Pancreas(192;2041 3010 9013 18103)	uc001ifi.2		NA																	0				ovary(1)	1						c.(238-240)CCC>CTC		tubulin, beta 8 isoform 1							41.0	51.0	47.0					10																	94593		2201	4299	6500	SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:94593G>A	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.239C>T	10.37:g.94593G>A	ENSP00000311042:p.Pro80Leu					TUBB8_uc009xhe.2_Intron|TUBB8_uc010pzs.1_Missense_Mutation_p.P8L	p.P80L	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	3	239	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	80					Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	c.239C>T	CCDS7051.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.74|11.74	1.728004|1.728004	0.30593|0.30593	.|.	.|.	ENSG00000173876|ENSG00000173876	ENST00000447903;ENST00000328974;ENST00000309812|ENST00000332708	T;T|.	0.70399|.	-0.48;-0.48|.	0.109|0.109	0.109|0.109	0.14578|0.14578	Tubulin/FtsZ, GTPase domain (4);|.	0.000000|0.000000	0.64402|0.64402	U|U	0.000018|0.000018	D|D	0.86142|0.86142	0.5862|0.5862	H|H	0.99415|0.99415	4.555|4.555	0.50039|0.50039	D|D	0.999845|0.999845	B|.	0.18461|.	0.028|.	B|.	0.23716|.	0.048|.	T|T	0.82928|0.82928	-0.0214|-0.0214	10|7	0.87932|0.87932	D|D	0|0	.|.	5.9913|5.9913	0.19465|0.19465	6.0E-4:0.0:0.9994:0.0|6.0E-4:0.0:0.9994:0.0	.|.	80|.	Q3ZCM7|.	TBB8_HUMAN|.	L|S	8;80;80|44	ENSP00000403895:P8L;ENSP00000311042:P80L|.	ENSP00000311042:P80L|ENSP00000371071:P44S	P|P	-|-	2|1	0|0	RP11-631M21.2|RP11-631M21.2	84593|84593	0.998000|0.998000	0.40836|0.40836	0.011000|0.011000	0.14972|0.14972	0.011000|0.011000	0.07611|0.07611	6.570000|6.570000	0.73996|0.73996	0.181000|0.181000	0.19994|0.19994	0.184000|0.184000	0.17185|0.17185	CCC|CCT		0.667	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		31	82	0	0	0	0.003755	0	31	82				
AKR1C4	1109	broad.mit.edu	37	10	5242256	5242256	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:5242256G>C	ENST00000380448.1	+	4	450	c.197G>C	c.(196-198)cGa>cCa	p.R66P	AKR1CL1_ENST00000445191.1_Intron|AKR1C4_ENST00000263126.1_Missense_Mutation_p.R66P			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	66					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)	p.R66P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						CTGGCCATCCGAAGCAAGATT	0.428																																							uc001ihw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(196-198)CGA>CCA		aldo-keto reductase family 1, member C4	NADH(DB00157)						153.0	124.0	134.0					10																	5242256		2203	4300	6503	SO:0001583	missense	1109				androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	g.chr10:5242256G>C	M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.197G>C	10.37:g.5242256G>C	ENSP00000369814:p.Arg66Pro						p.R66P	NM_001818	NP_001809	P17516	AK1C4_HUMAN			2	230	+			66					Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	c.197G>C	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	g	10.06	1.247872	0.22880	.	.	ENSG00000198610	ENST00000380448;ENST00000263126;ENST00000397357	T;T	0.25085	1.82;1.82	3.32	-1.28	0.09318	NADP-dependent oxidoreductase domain (3);	0.285266	0.22630	U	0.057588	T	0.45558	0.1348	M	0.88181	2.935	0.09310	N	1	D	0.64830	0.994	D	0.66979	0.948	T	0.31943	-0.9925	10	0.87932	D	0	.	3.775	0.08656	0.3328:0.0:0.4962:0.171	.	66	P17516	AK1C4_HUMAN	P	66	ENSP00000369814:R66P;ENSP00000263126:R66P	ENSP00000263126:R66P	R	+	2	0	AKR1C4	5232256	0.000000	0.05858	0.005000	0.12908	0.165000	0.22458	0.406000	0.21032	-0.265000	0.09352	0.591000	0.81541	CGA		0.428	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818		11	116	0	0	0	0.001368	0	11	116				
ASB13	79754	broad.mit.edu	37	10	5693200	5693200	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:5693200G>A	ENST00000357700.6	-	3	384	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S	ASB13_ENST00000479033.1_Intron	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	120					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.P120S(1)		NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		TCGTGCAGGGGGGACGCTGTG	0.632																																							uc001iig.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(358-360)CCC>TCC		ankyrin repeat and SOCS box-containing protein							67.0	69.0	69.0					10																	5693200		2203	4300	6503	SO:0001583	missense	79754				intracellular signal transduction		protein binding	g.chr10:5693200G>A	AK091935	CCDS7070.1	10p15.1	2013-01-10	2011-01-25		ENSG00000196372	ENSG00000196372		"""Ankyrin repeat domain containing"""	19765	protein-coding gene	gene with protein product		615055	"""ankyrin repeat and SOCS box-containing 13"""			12076535	Standard	NM_024701		Approved	FLJ13134, MGC19879	uc001iig.2	Q8WXK3	OTTHUMG00000017603	ENST00000357700.6:c.358C>T	10.37:g.5693200G>A	ENSP00000350331:p.Pro120Ser					ASB13_uc001iii.2_Intron|ASB13_uc001iih.2_RNA|ASB13_uc009xic.2_Missense_Mutation_p.P120S	p.P120S	NM_024701	NP_078977	Q8WXK3	ASB13_HUMAN		GBM - Glioblastoma multiforme(2;9.59e-09)	3	402	-			120			ANK 4.		A8K7Q6|D3DRR2|Q96EP7|Q9H8Z1	Missense_Mutation	SNP	ENST00000357700.6	37	c.358C>T	CCDS7070.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174805	0.78452	.	.	ENSG00000196372	ENST00000357700	T	0.71817	-0.6	4.77	4.77	0.60923	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.83792	0.5331	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.85305	0.1075	10	0.52906	T	0.07	-9.2771	17.3882	0.87422	0.0:0.0:1.0:0.0	.	120;120	Q8WXK3-2;Q8WXK3	.;ASB13_HUMAN	S	120	ENSP00000350331:P120S	ENSP00000350331:P120S	P	-	1	0	ASB13	5733206	1.000000	0.71417	0.996000	0.52242	0.547000	0.35210	9.251000	0.95483	2.195000	0.70347	0.561000	0.74099	CCC		0.632	ASB13-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046564.1			34	98	0	0	0	0.00623	0	34	98				
SFMBT2	57713	broad.mit.edu	37	10	7269847	7269847	+	Silent	SNP	C	C	A	rs143424241		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:7269847C>A	ENST00000361972.4	-	10	1263	c.1173G>T	c.(1171-1173)gcG>gcT	p.A391A	SFMBT2_ENST00000397167.1_Silent_p.A391A	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	391					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.A391A(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGGCTTCCTGCGCCCCATGCT	0.428																																							uc009xio.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1171-1173)GCG>GCT		Scm-like with four mbt domains 2							59.0	63.0	61.0					10																	7269847		2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7269847C>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.1173G>T	10.37:g.7269847C>A						SFMBT2_uc001ijn.1_Silent_p.A391A|SFMBT2_uc010qay.1_Silent_p.A391A	p.A391A	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			10	1264	-			391			MBT 4.		A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.1173G>T	CCDS31138.1																																																																																				0.428	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		24	48	1	0	1.42536e-11	0.004656	2.15039e-11	24	48				
ITIH5	80760	broad.mit.edu	37	10	7684001	7684001	+	Missense_Mutation	SNP	C	C	A	rs376012598	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:7684001C>A	ENST00000256861.6	-	3	266	c.188G>T	c.(187-189)cGt>cTt	p.R63L	ITIH5_ENST00000397145.2_Missense_Mutation_p.R63L|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'Flank|ITIH5_ENST00000397146.2_Missense_Mutation_p.R63L	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	63	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R63L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GAAGGCATAACGGGAAATGAT	0.438																																							uc001ijq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(2)	4						c.(187-189)CGT>CTT		inter-alpha trypsin inhibitor heavy chain							143.0	130.0	134.0					10																	7684001		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7684001C>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.188G>T	10.37:g.7684001C>A	ENSP00000256861:p.Arg63Leu					ITIH5_uc001ijr.1_Missense_Mutation_p.R63L	p.R63L	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			3	267	-			63			VIT.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.188G>T		.	.	.	.	.	.	.	.	.	.	C	24.4	4.531581	0.85706	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000397145	T;T;T	0.26660	1.72;1.72;1.72	5.71	5.71	0.89125	Vault protein inter-alpha-trypsin (2);	0.093234	0.85682	D	0.000000	T	0.55986	0.1955	.	.	.	0.54753	D	0.999987	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.995	T	0.58335	-0.7654	9	0.87932	D	0	-18.2556	19.8445	0.96703	0.0:1.0:0.0:0.0	.	63;63	G5E9D8;Q86UX2	.;ITIH5_HUMAN	L	63	ENSP00000256861:R63L;ENSP00000380333:R63L;ENSP00000380332:R63L	ENSP00000256861:R63L	R	-	2	0	ITIH5	7724007	1.000000	0.71417	0.854000	0.33618	0.553000	0.35397	5.656000	0.67988	2.695000	0.91970	0.462000	0.41574	CGT		0.438	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		16	63	1	0	3.99206e-14	0.007413	6.30516e-14	16	63				
ATP5C1	509	broad.mit.edu	37	10	7830195	7830195	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:7830195G>T	ENST00000356708.7	+	1	104	c.25G>T	c.(25-27)Ggg>Tgg	p.G9W	ATP5C1_ENST00000493053.1_3'UTR|KIN_ENST00000543003.1_5'Flank|KIN_ENST00000379562.4_5'Flank|ATP5C1_ENST00000335698.4_Missense_Mutation_p.G9W|ATP5C1_ENST00000541227.1_5'UTR|KIN_ENST00000535925.1_5'Flank	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	9					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.G9W(1)		breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						GGGTGTCGCTGGGCTGTCGGC	0.682																																					Melanoma(143;1012 1820 16249 30920 33158)	Melanoma(143;1012 1820 16249 30920 33158)	uc001iju.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(25-27)GGG>TGG		ATP synthase, H+ transporting, mitochondrial F1							38.0	35.0	36.0					10																	7830195		2203	4300	6503	SO:0001583	missense	509				oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr10:7830195G>T	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.25G>T	10.37:g.7830195G>T	ENSP00000349142:p.Gly9Trp					KIN_uc010qaz.1_5'Flank|KIN_uc001ijt.2_5'Flank|KIN_uc009xip.2_5'Flank|KIN_uc010qba.1_5'Flank|ATP5C1_uc010qbb.1_Missense_Mutation_p.G9W|ATP5C1_uc009xiq.1_Missense_Mutation_p.G9W|ATP5C1_uc010qbc.1_5'UTR|ATP5C1_uc001ijv.2_Missense_Mutation_p.G9W	p.G9W	NM_001001973	NP_001001973	P36542	ATPG_HUMAN			1	103	+			9					A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	37	c.25G>T	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140650	0.37825	.	.	ENSG00000165629	ENST00000356708;ENST00000335698	.	.	.	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000004	T	0.38852	0.1056	N	0.22421	0.69	0.26430	N	0.975957	D	0.71674	0.998	P	0.59948	0.866	T	0.27262	-1.0079	9	0.37606	T	0.19	-4.6337	10.2584	0.43412	0.0713:0.2111:0.7176:0.0	.	9	P36542	ATPG_HUMAN	W	9	.	ENSP00000338568:G9W	G	+	1	0	ATP5C1	7870201	0.040000	0.19996	0.407000	0.26434	0.006000	0.05464	1.207000	0.32333	2.775000	0.95449	0.655000	0.94253	GGG		0.682	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174		10	27	1	0	6.40141e-05	0.010729	7.4174e-05	10	27				
SEC61A2	55176	broad.mit.edu	37	10	12198911	12198911	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:12198911G>C	ENST00000298428.9	+	8	711	c.622G>C	c.(622-624)Gag>Cag	p.E208Q	SEC61A2_ENST00000379020.4_Missense_Mutation_p.E208Q|SEC61A2_ENST00000304267.8_Missense_Mutation_p.E208Q|SEC61A2_ENST00000379033.3_Missense_Mutation_p.E186Q|SEC61A2_ENST00000495368.1_3'UTR	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	208					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)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)	p.E208Q(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				TACAGGTACTGAGTTTGAGGG	0.478																																							uc001ile.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(622-624)GAG>CAG		Sec61 alpha form 2 isoform a							170.0	154.0	159.0					10																	12198911		2203	4300	6503	SO:0001583	missense	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12198911G>C	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.622G>C	10.37:g.12198911G>C	ENSP00000298428:p.Glu208Gln					SEC61A2_uc010qbq.1_Missense_Mutation_p.E186Q|SEC61A2_uc001ilf.3_RNA|SEC61A2_uc001ilh.3_RNA|SEC61A2_uc001ilg.3_Missense_Mutation_p.E208Q	p.E208Q	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN			8	769	+		Renal(717;0.228)	208			Lumenal (Potential).		A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	ENST00000298428.9	37	c.622G>C	CCDS7088.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.15|18.15	3.559185|3.559185	0.65538|0.65538	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000379033;ENST00000441368;ENST00000298428;ENST00000304267;ENST00000379020|ENST00000419021	.|.	.|.	.|.	5.94|5.94	5.94|5.94	0.96194|0.96194	SecY subunit domain (2);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|.	0.77498|.	0.4139|.	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	B;P;P|.	0.48016|.	0.241;0.813;0.904|.	B;P;P|.	0.55999|.	0.444;0.699;0.789|.	T|.	0.75303|.	-0.3365|.	9|.	0.54805|.	T|.	0.06|.	-13.6532|-13.6532	19.3475|19.3475	0.94370|0.94370	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	186;208;208|.	F8W773;Q9H9S3-2;Q9H9S3|.	.;.;S61A2_HUMAN|.	Q|S	186;120;208;208;208|89	.|.	ENSP00000298428:E208Q|.	E|X	+|+	1|2	0|2	SEC61A2|SEC61A2	12238917|12238917	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.052000|0.052000	0.14988|0.14988	9.835000|9.835000	0.99442|0.99442	2.816000|2.816000	0.96949|0.96949	0.563000|0.563000	0.77884|0.77884	GAG|TGA		0.478	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		13	133	0	0	0	0.00245	0	13	133				
CAMK1D	57118	broad.mit.edu	37	10	12867623	12867623	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:12867623G>C	ENST00000378847.3	+	10	1310	c.973G>C	c.(973-975)Ggc>Cgc	p.G325R	CAMK1D_ENST00000378845.1_Missense_Mutation_p.G325R	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	325					inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.G325R(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		ACTACACCTCGGCAGCAGCCT	0.458																																							uc001ilo.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|stomach(1)	2						c.(973-975)GGC>CGC		calcium/calmodulin-dependent protein kinase ID							133.0	125.0	128.0					10																	12867623		2203	4300	6503	SO:0001583	missense	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12867623G>C	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.973G>C	10.37:g.12867623G>C	ENSP00000368124:p.Gly325Arg					CAMK1D_uc001iln.2_Missense_Mutation_p.G325R	p.G325R	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	10	1208	+			325					B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.973G>C	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532862	0.85812	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.66995	-0.24;-0.21	5.45	5.45	0.79879	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78935	0.4362	L	0.51914	1.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79988	-0.1571	10	0.66056	D	0.02	-33.0659	18.2842	0.90108	0.0:0.0:1.0:0.0	.	325;325	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	R	325	ENSP00000368124:G325R;ENSP00000368122:G325R	ENSP00000368122:G325R	G	+	1	0	CAMK1D	12907629	1.000000	0.71417	0.958000	0.39756	0.662000	0.39071	9.447000	0.97595	2.563000	0.86464	0.650000	0.86243	GGC		0.458	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		22	162	0	0	0	0.00278	0	22	162				
FAM171A1	221061	broad.mit.edu	37	10	15290733	15290733	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:15290733A>C	ENST00000378116.4	-	5	665	c.659T>G	c.(658-660)gTg>gGg	p.V220G	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	220						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V220G(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGGACCATCCACCAGCACCGG	0.587																																							uc001iob.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|skin(1)	4						c.(658-660)GTG>GGG		hypothetical protein LOC221061 precursor							97.0	86.0	90.0					10																	15290733		2203	4300	6503	SO:0001583	missense	221061					integral to membrane		g.chr10:15290733A>C	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.659T>G	10.37:g.15290733A>C	ENSP00000367356:p.Val220Gly						p.V220G	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			5	666	-			220			Extracellular (Potential).		D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	ENST00000378116.4	37	c.659T>G	CCDS31154.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.975980	0.74360	.	.	ENSG00000148468	ENST00000378116;ENST00000378114;ENST00000396781;ENST00000455654	T;T	0.41400	1.0;1.0	5.39	5.39	0.77823	.	0.123300	0.53938	D	0.000048	T	0.49592	0.1566	M	0.75777	2.31	0.80722	D	1	P	0.36683	0.565	B	0.39617	0.305	T	0.56727	-0.7931	10	0.87932	D	0	-15.4706	15.6895	0.77439	1.0:0.0:0.0:0.0	.	220	Q5VUB5	F1711_HUMAN	G	220;167;221;167	ENSP00000367356:V220G;ENSP00000407796:V167G	ENSP00000367354:V167G	V	-	2	0	FAM171A1	15330739	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.822000	0.86651	2.159000	0.67721	0.460000	0.39030	GTG		0.587	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		7	65	0	0	0	0.010729	0	7	65				
SLC39A12	221074	broad.mit.edu	37	10	18292251	18292251	+	Silent	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:18292251T>A	ENST00000377369.2	+	12	2184	c.1911T>A	c.(1909-1911)acT>acA	p.T637T	SLC39A12_ENST00000539911.1_Silent_p.T503T|SLC39A12-AS1_ENST00000439319.1_RNA|SLC39A12-AS1_ENST00000445287.1_RNA|SLC39A12_ENST00000377371.3_Silent_p.T636T|SLC39A12_ENST00000377374.4_Silent_p.T600T	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	637					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.T600T(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCACAGTCACTGCTGGGATGT	0.373																																							uc001ipo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1909-1911)ACT>ACA		solute carrier family 39 (zinc transporter),							166.0	148.0	154.0					10																	18292251		2203	4300	6503	SO:0001819	synonymous_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18292251T>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1911T>A	10.37:g.18292251T>A						SLC39A12_uc001ipn.2_Silent_p.T600T|SLC39A12_uc001ipp.2_Silent_p.T636T|SLC39A12_uc010qck.1_Silent_p.T503T|uc001ipq.1_RNA	p.T637T	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			12	2184	+			637			Helical; (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	c.1911T>A	CCDS44362.1																																																																																				0.373	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		23	128	0	0	0	0.00333	0	23	128				
MYO3A	53904	broad.mit.edu	37	10	26457774	26457774	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:26457774G>T	ENST00000265944.5	+	28	3411	c.3245G>T	c.(3244-3246)aGg>aTg	p.R1082M	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1082	IQ 1. {ECO:0000255|PROSITE- ProRule:PRU00116}.|IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R1082M(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAGGAGAAAAGGAAAGAAAGC	0.328																																							uc001isn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(3244-3246)AGG>ATG		myosin IIIA							122.0	125.0	124.0					10																	26457774		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26457774G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3245G>T	10.37:g.26457774G>T	ENSP00000265944:p.Arg1082Met					MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	p.R1082M	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			28	3605	+			1082			IQ 1.|IQ 2.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.3245G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.389049	0.82902	.	.	ENSG00000095777	ENST00000265944	T	0.73363	-0.74	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.79633	0.4479	M	0.68317	2.08	0.80722	D	1	P	0.46784	0.884	P	0.47162	0.54	T	0.80955	-0.1151	10	0.56958	D	0.05	.	19.8144	0.96560	0.0:0.0:1.0:0.0	.	1082	Q8NEV4	MYO3A_HUMAN	M	1082	ENSP00000265944:R1082M	ENSP00000265944:R1082M	R	+	2	0	MYO3A	26497780	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.926000	0.75835	2.741000	0.93983	0.655000	0.94253	AGG		0.328	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		16	86	1	0	7.21436e-19	0.008871	1.22269e-18	16	86				
ANKRD26	22852	broad.mit.edu	37	10	27306526	27306526	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:27306526C>T	ENST00000376087.4	-	30	4576	c.4411G>A	c.(4411-4413)Gaa>Aaa	p.E1471K	ANKRD26_ENST00000436985.2_Missense_Mutation_p.E1487K|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E1028K	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1470					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.E1471K(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGACCAAGTTCTACCATATTC	0.318																																							uc001ith.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4						c.(4408-4410)GAA>AAA		ankyrin repeat domain 26							142.0	129.0	133.0					10																	27306526		1836	4083	5919	SO:0001583	missense	22852					centrosome		g.chr10:27306526C>T	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.4411G>A	10.37:g.27306526C>T	ENSP00000365255:p.Glu1471Lys					ANKRD26_uc001itg.2_Missense_Mutation_p.E1157K|ANKRD26_uc009xku.1_Missense_Mutation_p.E1471K	p.E1470K	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN			30	4580	-			1470			Potential.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	ENST00000376087.4	37	c.4408G>A	CCDS41499.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989472	0.35131	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.38560	3.68;1.13;1.14	4.82	1.9	0.25705	.	0.339717	0.23712	N	0.045314	T	0.39358	0.1075	M	0.76574	2.34	0.09310	N	1	B;B;B	0.26708	0.157;0.097;0.134	B;B;B	0.27715	0.082;0.037;0.03	T	0.36383	-0.9750	10	0.52906	T	0.07	.	6.2225	0.20689	0.0:0.6693:0.1544:0.1763	.	1471;1470;1487	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	K	1028;1471;1487	ENSP00000365238:E1028K;ENSP00000365255:E1471K;ENSP00000405112:E1487K	ENSP00000365238:E1028K	E	-	1	0	ANKRD26	27346532	0.966000	0.33281	0.002000	0.10522	0.064000	0.16182	2.586000	0.46119	0.185000	0.20105	0.455000	0.32223	GAA		0.318	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			8	100	0	0	0	0.00308	0	8	100				
ZEB1	6935	broad.mit.edu	37	10	31809433	31809433	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:31809433G>T	ENST00000320985.10	+	7	1280	c.1170G>T	c.(1168-1170)atG>atT	p.M390I	ZEB1_ENST00000560721.2_Missense_Mutation_p.M370I|ZEB1_ENST00000446923.2_Missense_Mutation_p.M374I|ZEB1_ENST00000542815.3_Missense_Mutation_p.M323I|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.M391I			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	390				M -> T (in Ref. 3; BAG62481). {ECO:0000305}.	cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.M390I(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTCAGGGCATGGTGCAAGCTG	0.448																																					Ovarian(40;423 959 14296 36701 49589)	Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)	5						c.(1168-1170)ATG>ATT		zinc finger E-box binding homeobox 1 isoform b							85.0	83.0	84.0					10																	31809433		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31809433G>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1170G>T	10.37:g.31809433G>T	ENSP00000319248:p.Met390Ile					ZEB1_uc001ivr.3_Missense_Mutation_p.M172I|ZEB1_uc010qee.1_Missense_Mutation_p.M172I|ZEB1_uc010qef.1_Missense_Mutation_p.M172I|ZEB1_uc009xlj.1_Missense_Mutation_p.M316I|ZEB1_uc010qeg.1_Missense_Mutation_p.M249I|ZEB1_uc009xlk.1_Missense_Mutation_p.M172I|ZEB1_uc001ivt.3_Missense_Mutation_p.M172I|ZEB1_uc001ivu.3_Missense_Mutation_p.M391I|ZEB1_uc001ivv.3_Missense_Mutation_p.M370I|ZEB1_uc010qeh.1_Missense_Mutation_p.M323I|ZEB1_uc009xlo.1_Missense_Mutation_p.M373I|ZEB1_uc009xlp.2_Missense_Mutation_p.M374I	p.M390I	NM_030751	NP_110378	P37275	ZEB1_HUMAN			7	1233	+		Prostate(175;0.0156)	390					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.1170G>T	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.289314	0.23478	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.11169	3.11;2.81;2.85;2.8;2.85	5.61	5.61	0.85477	.	0.103999	0.42420	D	0.000707	T	0.06416	0.0165	N	0.08118	0	0.23879	N	0.996589	B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.36065	-0.9763	10	0.21540	T	0.41	-6.3773	14.7988	0.69898	0.0:0.0:0.8558:0.1442	.	323;390;374;390;390;370;391;390	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	I	172;390;391;390;323;390;370;249;281;374	ENSP00000444282:M172I;ENSP00000354487:M391I;ENSP00000444891:M323I;ENSP00000319248:M390I;ENSP00000391612:M374I	ENSP00000319248:M390I	M	+	3	0	ZEB1	31849439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.998000	0.29744	2.813000	0.96785	0.655000	0.94253	ATG		0.448	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		7	93	1	0	0.000274275	0.004482	0.000304945	7	93				
ZEB1	6935	broad.mit.edu	37	10	31810851	31810851	+	Missense_Mutation	SNP	C	C	G	rs202145455		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:31810851C>G	ENST00000320985.10	+	7	2698	c.2588C>G	c.(2587-2589)cCa>cGa	p.P863R	ZEB1_ENST00000560721.2_Missense_Mutation_p.P843R|ZEB1_ENST00000446923.2_Missense_Mutation_p.P847R|ZEB1_ENST00000542815.3_Missense_Mutation_p.P796R|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.P864R			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	863					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.P863R(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GTGATCCAGCCAAATGGAAAT	0.423													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20263	0.0		0.0	False		,,,				2504	0.0				Ovarian(40;423 959 14296 36701 49589)	Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)	5						c.(2587-2589)CCA>CGA		zinc finger E-box binding homeobox 1 isoform b							57.0	60.0	59.0					10																	31810851		2203	4300	6503	SO:0001583	missense	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31810851C>G	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2588C>G	10.37:g.31810851C>G	ENSP00000319248:p.Pro863Arg					ZEB1_uc001ivr.3_Missense_Mutation_p.P645R|ZEB1_uc010qee.1_Missense_Mutation_p.P645R|ZEB1_uc010qef.1_Missense_Mutation_p.P645R|ZEB1_uc009xlj.1_Missense_Mutation_p.P789R|ZEB1_uc010qeg.1_Missense_Mutation_p.P722R|ZEB1_uc009xlk.1_Missense_Mutation_p.P645R|ZEB1_uc001ivt.3_Missense_Mutation_p.P645R|ZEB1_uc001ivu.3_Missense_Mutation_p.P864R|ZEB1_uc001ivv.3_Missense_Mutation_p.P843R|ZEB1_uc010qeh.1_Missense_Mutation_p.P796R|ZEB1_uc009xlo.1_Missense_Mutation_p.P846R|ZEB1_uc009xlp.2_Missense_Mutation_p.P847R	p.P863R	NM_030751	NP_110378	P37275	ZEB1_HUMAN			7	2651	+		Prostate(175;0.0156)	863					B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	c.2588C>G	CCDS7169.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.334	0.827216	0.16749	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.13538	2.86;2.58;2.59;2.58;2.61	5.86	5.86	0.93980	.	3.199280	0.01270	N	0.009420	T	0.19525	0.0469	N	0.11427	0.14	0.46586	D	0.999117	P;P;P;P;P;B;P;P	0.50710	0.573;0.879;0.938;0.877;0.808;0.147;0.938;0.877	B;P;B;B;B;B;B;B	0.51385	0.098;0.668;0.368;0.216;0.368;0.045;0.368;0.216	T	0.52026	-0.8630	10	0.14656	T	0.56	-13.2566	20.5632	0.99335	0.0:1.0:0.0:0.0	.	796;863;847;863;863;843;864;863	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	R	645;863;864;858;796;863;843;754;847	ENSP00000444282:P645R;ENSP00000354487:P864R;ENSP00000444891:P796R;ENSP00000319248:P863R;ENSP00000391612:P847R	ENSP00000319248:P863R	P	+	2	0	ZEB1	31850857	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.038000	0.57318	2.937000	0.99478	0.650000	0.86243	CCA		0.423	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751		15	46	0	0	0	0.003163	0	15	46				
CCDC7	79741	broad.mit.edu	37	10	33093962	33093962	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:33093962G>C	ENST00000375028.3	+	9	844	c.774G>C	c.(772-774)ttG>ttC	p.L258F	C10orf68_ENST00000375030.2_Intron|C10orf68_ENST00000375025.4_Missense_Mutation_p.L318F			Q9H943	CJ068_HUMAN		282								p.L282F(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TAGAAAGCTTGAGAGGTGCTT	0.348																																							uc001iwn.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(844-846)TTG>TTC		chromosome 10 open reading frame 68							90.0	102.0	98.0					10																	33093962		2201	4299	6500	SO:0001583	missense	79741							g.chr10:33093962G>C																												ENST00000375028.3:c.774G>C	10.37:g.33093962G>C	ENSP00000364168:p.Leu258Phe					C10orf68_uc001iwl.1_Intron|C10orf68_uc001iwm.1_Missense_Mutation_p.L258F|C10orf68_uc010qei.1_Missense_Mutation_p.L230F|C10orf68_uc001iwo.3_RNA	p.L282F	NM_024688	NP_078964	Q9H943	CJ068_HUMAN			11	1319	+			282					B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	ENST00000375028.3	37	c.846G>C		.	.	.	.	.	.	.	.	.	.	.	11.16	1.558330	0.27827	.	.	ENSG00000150076	ENST00000302316;ENST00000375028;ENST00000375025;ENST00000375037	T;T;T	0.34667	1.38;1.36;1.35	2.29	0.392	0.16288	.	.	.	.	.	T	0.46092	0.1375	L	0.52573	1.65	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.24333	-1.0163	9	0.42905	T	0.14	.	4.2229	0.10567	0.3579:0.0:0.6421:0.0	.	235;282;258	B4DX58;Q9H943;A2A3B4	.;CJ068_HUMAN;.	F	282;258;318;230	ENSP00000303710:L282F;ENSP00000364168:L258F;ENSP00000364165:L318F	ENSP00000303710:L282F	L	+	3	2	C10orf68	33133968	0.005000	0.15991	0.002000	0.10522	0.012000	0.07955	0.064000	0.14437	0.098000	0.17522	0.467000	0.42956	TTG		0.348	C10orf68-002	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000314000.2			17	225	0	0	0	0.002299	0	17	225				
ANKRD30A	91074	broad.mit.edu	37	10	37508354	37508354	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:37508354T>A	ENST00000602533.1	+	34	3645	c.3546T>A	c.(3544-3546)gaT>gaA	p.D1182E	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.D1301E|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D1182E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1238					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D1182E(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGAATGTTGATGTGAGTAGTA	0.368																																							uc001iza.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(3544-3546)GAT>GAA		ankyrin repeat domain 30A							65.0	58.0	60.0					10																	37508354		1863	4098	5961	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508354T>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3546T>A	10.37:g.37508354T>A	ENSP00000473551:p.Asp1182Glu						p.D1182E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	3645	+			1238					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3546T>A		.	.	.	.	.	.	.	.	.	.	t	6.117	0.389816	0.11581	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.12984	2.63;2.63	2.75	-4.19	0.03835	.	.	.	.	.	T	0.07593	0.0191	L	0.41415	1.275	0.09310	N	1	B	0.23249	0.082	B	0.30179	0.112	T	0.45041	-0.9288	9	0.05436	T	0.98	.	2.5505	0.04748	0.1558:0.1143:0.4728:0.2571	.	1238	Q9BXX3	AN30A_HUMAN	E	1182;1301	ENSP00000354432:D1182E;ENSP00000363792:D1301E	ENSP00000354432:D1182E	D	+	3	2	ANKRD30A	37548360	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	-0.395000	0.07287	-0.777000	0.04572	0.234000	0.17832	GAT		0.368	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		14	39	0	0	0	0.001855	0	14	39				
ZNF239	8187	broad.mit.edu	37	10	44053404	44053404	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:44053404T>C	ENST00000306006.6	-	2	776	c.124A>G	c.(124-126)Aga>Gga	p.R42G	ZNF239_ENST00000374446.2_Missense_Mutation_p.R42G|ZNF239_ENST00000426961.1_Missense_Mutation_p.R42G|ZNF239_ENST00000535642.1_Missense_Mutation_p.R42G|ZNF239_ENST00000491188.1_5'UTR	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	42					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R42G(1)		endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCCCTGTTTCTGGAAATAGGA	0.423																																							uc001jaw.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(124-126)AGA>GGA		zinc finger protein 239							107.0	98.0	101.0					10																	44053404		1924	4118	6042	SO:0001583	missense	8187				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding	g.chr10:44053404T>C	X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.124A>G	10.37:g.44053404T>C	ENSP00000307774:p.Arg42Gly					ZNF239_uc001jax.3_Missense_Mutation_p.R42G|ZNF239_uc009xmj.2_Missense_Mutation_p.R42G|ZNF239_uc009xmk.2_Missense_Mutation_p.R42G	p.R42G	NM_005674	NP_005665	Q16600	ZN239_HUMAN			2	777	-			42					Q5T1G9|Q8TAS5	Missense_Mutation	SNP	ENST00000306006.6	37	c.124A>G	CCDS41502.1	.	.	.	.	.	.	.	.	.	.	T	5.383	0.255980	0.10185	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	4.14	1.75	0.24633	.	.	.	.	.	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.46596	-0.9180	9	0.20519	T	0.43	-2.2771	4.4935	0.11826	0.0:0.1032:0.1974:0.6994	.	42	Q16600	ZN239_HUMAN	G	42	ENSP00000307774:R42G;ENSP00000363569:R42G;ENSP00000398202:R42G;ENSP00000443907:R42G	ENSP00000307774:R42G	R	-	1	2	ZNF239	43373410	0.000000	0.05858	0.001000	0.08648	0.109000	0.19521	0.412000	0.21131	0.365000	0.24400	0.533000	0.62120	AGA		0.423	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047710.1			32	100	0	0	0	0.003271	0	32	100				
RBP3	5949	broad.mit.edu	37	10	48387913	48387913	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:48387913G>T	ENST00000224600.4	-	1	3078	c.2965C>A	c.(2965-2967)Ctg>Atg	p.L989M	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	989	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.L989M(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGCATCTGCAGGTCAGCCCCC	0.612																																							uc001jez.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(2965-2967)CTG>ATG		retinol-binding protein 3 precursor	Vitamin A(DB00162)						100.0	101.0	101.0					10																	48387913		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48387913G>T	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2965C>A	10.37:g.48387913G>T	ENSP00000224600:p.Leu989Met						p.L989M	NM_002900	NP_002891	P10745	RET3_HUMAN			1	3079	-			989			4 X approximate tandem repeats.|4.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.2965C>A	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635447	0.29068	.	.	ENSG00000107618	ENST00000224600	T	0.71103	-0.54	5.56	2.7	0.31948	.	0.000000	0.85682	D	0.000000	D	0.82388	0.5026	M	0.83774	2.66	0.48452	D	0.999655	D	0.89917	1.0	D	0.87578	0.998	T	0.81228	-0.1028	10	0.87932	D	0	-18.9775	8.6505	0.34031	0.3296:0.0:0.6704:0.0	.	989	P10745	RET3_HUMAN	M	989	ENSP00000224600:L989M	ENSP00000224600:L989M	L	-	1	2	RBP3	48007919	1.000000	0.71417	0.994000	0.49952	0.714000	0.41099	3.309000	0.51903	0.315000	0.23110	0.655000	0.94253	CTG		0.612	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		7	85	1	0	3.09899e-07	0.004482	4.05431e-07	7	85				
PGBD3	267004	broad.mit.edu	37	10	50724809	50724809	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:50724809C>T	ENST00000374127.3	-	2	553	c.352G>A	c.(352-354)Gac>Aac	p.D118N	PGBD3_ENST00000603152.1_Missense_Mutation_p.D586N|PGBD3_ENST00000508005.2_Missense_Mutation_p.D118N|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.D586N|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.D586N	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	118								p.D118N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						ACAGTTAGGTCGGCTTTTTTC	0.423																																							uc001jht.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|breast(1)|skin(1)	3						c.(352-354)GAC>AAC		hypothetical protein LOC267004							147.0	137.0	140.0					10																	50724809		2203	4300	6503	SO:0001583	missense	267004							g.chr10:50724809C>T	AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.352G>A	10.37:g.50724809C>T	ENSP00000363242:p.Asp118Asn					ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Missense_Mutation_p.D586N|PGBD3_uc001jhu.2_Missense_Mutation_p.D586N	p.D118N	NM_170753	NP_736609	Q8N328	PGBD3_HUMAN			2	607	-			118					B3KQC4|Q5W0M0|Q6PIH0	Missense_Mutation	SNP	ENST00000374127.3	37	c.352G>A	CCDS7230.1	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997814	0.35226	.	.	ENSG00000243251;ENSG00000243251;ENSG00000258838;ENSG00000258838	ENST00000374127;ENST00000508005;ENST00000515869;ENST00000447839	T;T;T;T	0.14640	2.49;2.49;3.37;3.37	0.468	0.468	0.16732	.	.	.	.	.	T	0.10337	0.0253	N	0.19112	0.55	0.09310	N	1	D;B	0.53312	0.959;0.033	P;B	0.47705	0.555;0.0	T	0.30592	-0.9973	8	0.30078	T	0.28	-6.3091	.	.	.	.	586;118	E7EV46;Q8N328	.;PGBD3_HUMAN	N	118;118;586;586	ENSP00000363242:D118N;ENSP00000426963:D118N;ENSP00000423550:D586N;ENSP00000387966:D586N	ENSP00000387966:D586N	D	-	1	0	PGBD3;RP11-123B3.6	50394815	0.925000	0.31364	0.018000	0.16275	0.017000	0.09413	1.799000	0.38824	0.488000	0.27723	0.491000	0.48974	GAC		0.423	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			9	68	0	0	0	0.004482	0	9	68				
FAM13C	220965	broad.mit.edu	37	10	61014171	61014171	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:61014171C>A	ENST00000373868.2	-	11	1356	c.1269G>T	c.(1267-1269)ccG>ccT	p.P423P	FAM13C_ENST00000419214.2_Silent_p.P325P|FAM13C_ENST00000442566.3_Silent_p.P444P|FAM13C_ENST00000373867.3_Silent_p.P340P|FAM13C_ENST00000422313.2_Silent_p.P423P|FAM13C_ENST00000468840.2_Silent_p.P340P|FAM13C_ENST00000435852.2_Silent_p.P423P|FAM13C_ENST00000277705.6_Silent_p.P444P	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	423								p.P423P(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTCATAAAGCGGCTTTATGA	0.353																																							uc001jkn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1267-1269)CCG>CCT		hypothetical protein LOC220965 isoform 1							278.0	269.0	272.0					10																	61014171		2203	4300	6503	SO:0001819	synonymous_variant	220965							g.chr10:61014171C>A	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1269G>T	10.37:g.61014171C>A						FAM13C_uc001jko.2_Silent_p.P325P|FAM13C_uc010qid.1_Silent_p.P340P|FAM13C_uc010qie.1_Silent_p.P340P|FAM13C_uc010qif.1_Silent_p.P445P|FAM13C_uc001jkp.2_Silent_p.P340P	p.P423P	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			12	1403	-			423					B7ZB77|Q5T631|Q6P2M3|Q99787	Silent	SNP	ENST00000373868.2	37	c.1269G>T	CCDS7255.1																																																																																				0.353	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			21	96	1	0	6.44725e-10	0.002299	9.24578e-10	21	96				
CTNNA3	29119	broad.mit.edu	37	10	68979401	68979401	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:68979401C>A	ENST00000433211.2	-	6	981	c.807G>T	c.(805-807)caG>caT	p.Q269H	CTNNA3_ENST00000545309.1_Missense_Mutation_p.Q269H|CTNNA3_ENST00000373744.4_Missense_Mutation_p.Q269H	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.Q269H(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GGGTTGCTGCCTGAGGTTCTG	0.413																																							uc009xpn.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(805-807)CAG>CAT		catenin, alpha 3							202.0	211.0	208.0					10																	68979401		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68979401C>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.807G>T	10.37:g.68979401C>A	ENSP00000389714:p.Gln269His					CTNNA3_uc001jmw.2_Missense_Mutation_p.Q269H|CTNNA3_uc001jmx.3_Missense_Mutation_p.Q269H|CTNNA3_uc009xpo.1_Missense_Mutation_p.Q129H|CTNNA3_uc001jna.2_Missense_Mutation_p.Q281H	p.Q269H	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			6	930	-			269						Missense_Mutation	SNP	ENST00000433211.2	37	c.807G>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583088	0.28268	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.36520	1.25;1.25;1.25	5.55	1.66	0.24008	.	0.618937	0.14222	N	0.333339	T	0.22513	0.0543	N	0.14661	0.345	0.27792	N	0.942796	B;B;B;P	0.37573	0.14;0.371;0.004;0.6	B;B;B;B	0.39805	0.21;0.269;0.008;0.31	T	0.13098	-1.0522	10	0.31617	T	0.26	-1.372	9.5852	0.39512	0.0:0.7072:0.0:0.2928	.	269;269;269;269	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	H	269	ENSP00000389714:Q269H;ENSP00000362849:Q269H;ENSP00000441444:Q269H	ENSP00000362849:Q269H	Q	-	3	2	CTNNA3	68649407	0.398000	0.25279	0.962000	0.40283	0.904000	0.53231	-0.091000	0.11146	0.053000	0.16036	0.591000	0.81541	CAG		0.413	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		25	280	1	0	1.88708e-17	0.008361	3.15219e-17	25	280				
TET1	80312	broad.mit.edu	37	10	70333271	70333271	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:70333271C>A	ENST00000373644.4	+	2	1385	c.1176C>A	c.(1174-1176)acC>acA	p.T392T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	392					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TGGGTGAGACCCCAGATCTAC	0.502																																							uc001jok.3		NA																	0				ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(1174-1176)ACC>ACA		CXXC finger 6							143.0	152.0	149.0					10																	70333271		2203	4300	6503	SO:0001819	synonymous_variant	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70333271C>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.1176C>A	10.37:g.70333271C>A							p.T392T	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			2	1681	+			392					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	ENST00000373644.4	37	c.1176C>A	CCDS7281.1																																																																																				0.502	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		37	136	1	0	5.04308e-16	0.00623	8.26527e-16	37	136				
DDX50	79009	broad.mit.edu	37	10	70695825	70695825	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:70695825G>T	ENST00000373585.3	+	11	1692	c.1585G>T	c.(1585-1587)Gat>Tat	p.D529Y	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	529						membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.D529Y(1)		breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TAAAAGCATGGATGCCATCAG	0.323																																							uc001jou.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1585-1587)GAT>TAT		nucleolar protein GU2							68.0	64.0	65.0					10																	70695825		2203	4296	6499	SO:0001583	missense	79009					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr10:70695825G>T	AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1585G>T	10.37:g.70695825G>T	ENSP00000362687:p.Asp529Tyr					DDX50_uc010qjc.1_Missense_Mutation_p.D529Y	p.D529Y	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN			11	1692	+			529					Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	ENST00000373585.3	37	c.1585G>T	CCDS7283.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388388	0.82902	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.21543	2.0	5.46	5.46	0.80206	.	0.265710	0.48767	D	0.000177	T	0.51635	0.1686	M	0.85710	2.77	0.80722	D	1	D	0.69078	0.997	D	0.65987	0.94	T	0.57046	-0.7878	10	0.72032	D	0.01	-16.9299	18.6472	0.91415	0.0:0.0:1.0:0.0	.	529	Q9BQ39	DDX50_HUMAN	Y	529	ENSP00000362687:D529Y	ENSP00000362687:D529Y	D	+	1	0	DDX50	70365831	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.134000	0.94467	2.725000	0.93324	0.591000	0.81541	GAT		0.323	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048363.1	NM_024045		9	43	1	0	3.07112e-06	0.010729	3.81242e-06	9	43				
PALD1	27143	broad.mit.edu	37	10	72300921	72300921	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:72300921G>A	ENST00000263563.6	+	16	2240	c.1972G>A	c.(1972-1974)Gtg>Atg	p.V658M		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	658						cytosol (GO:0005829)		p.V658M(1)									CACTGGCTTCGTGTTCAGCTG	0.637																																							uc001jrd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1972-1974)GTG>ATG		KIAA1274							60.0	66.0	64.0					10																	72300921		2203	4300	6503	SO:0001583	missense	27143							g.chr10:72300921G>A	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.1972G>A	10.37:g.72300921G>A	ENSP00000263563:p.Val658Met					KIAA1274_uc001jre.3_Translation_Start_Site	p.V658M	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN			16	2253	+			658					B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	c.1972G>A	CCDS31215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.71|16.71	3.199100|3.199100	0.58126|0.58126	.|.	.|.	ENSG00000107719|ENSG00000107719	ENST00000426268|ENST00000263563;ENST00000373214	.|T	.|0.35236	.|1.32	3.52|3.52	3.52|3.52	0.40303|0.40303	.|.	.|0.230393	.|0.36134	.|N	.|0.002780	T|T	0.40767|0.40767	0.1130|0.1130	M|M	0.76574|0.76574	2.34|2.34	0.45648|0.45648	D|D	0.99857|0.99857	.|D	.|0.54772	.|0.968	.|B	.|0.43052	.|0.406	T|T	0.49409|0.49409	-0.8943|-0.8943	5|10	.|0.35671	.|T	.|0.21	-1.4835|-1.4835	14.8871|14.8871	0.70579|0.70579	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|658	.|Q9ULE6	.|PALD_HUMAN	H|M	38|658	.|ENSP00000263563:V658M	.|ENSP00000263563:V658M	R|V	+|+	2|1	0|0	KIAA1274|KIAA1274	71970927|71970927	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.943000|0.943000	0.58893|0.58893	7.335000|7.335000	0.79234|0.79234	1.812000|1.812000	0.52913|0.52913	0.435000|0.435000	0.28638|0.28638	CGT|GTG		0.637	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		13	90	0	0	0	0.001855	0	13	90				
CDH23	64072	broad.mit.edu	37	10	73464725	73464725	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:73464725G>T	ENST00000224721.6	+	24	2811	c.2806G>T	c.(2806-2808)Gtg>Ttg	p.V936L	CDH23_ENST00000299366.7_Missense_Mutation_p.V976L	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	931	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.V936L(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGCATGCCGGTGGGCATGCC	0.672																																							uc001jrx.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(2791-2793)GTG>TTG		cadherin-like 23 isoform 1 precursor							74.0	78.0	77.0					10																	73464725		2106	4219	6325	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73464725G>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2806G>T	10.37:g.73464725G>T	ENSP00000224721:p.Val936Leu					CDH23_uc001jry.2_Missense_Mutation_p.V547L|CDH23_uc001jrz.2_Missense_Mutation_p.V547L	p.V931L	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			24	3168	+			931			Cadherin 9.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.2791G>T		.	.	.	.	.	.	.	.	.	.	G	17.93	3.508879	0.64410	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000299366;ENST00000224721;ENST00000442677	.	.	.	5.5	5.5	0.81552	Cadherin (4);Cadherin-like (1);	0.105052	0.44097	D	0.000489	T	0.42337	0.1198	N	0.13198	0.31	0.80722	D	1	P;P;B	0.42456	0.78;0.454;0.005	B;B;B	0.42593	0.392;0.095;0.038	T	0.29761	-1.0001	9	0.30078	T	0.28	.	19.3744	0.94502	0.0:0.0:1.0:0.0	.	931;934;931	Q6P152;G3XCN8;Q9H251	.;.;CAD23_HUMAN	L	936;931;931;934;934;448	.	ENSP00000224721:V936L	V	+	1	0	CDH23	73134731	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	4.529000	0.60588	2.575000	0.86900	0.561000	0.74099	GTG		0.672	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		8	75	1	0	5.4927e-09	0.004482	7.63566e-09	8	75				
FUT11	170384	broad.mit.edu	37	10	75533499	75533499	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:75533499C>G	ENST00000372841.3	+	2	1303	c.1260C>G	c.(1258-1260)gcC>gcG	p.A420A	FUT11_ENST00000465695.1_3'UTR|RMRPP1_ENST00000517236.1_RNA|AC022400.2_ENST00000595757.1_5'Flank|FUT11_ENST00000394790.1_Silent_p.A420A	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	420					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)	p.A420A(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					CCCACATTGCCCAGCCCTCAC	0.607																																							uc001jva.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1258-1260)GCC>GCG		fucosyltransferase 11 (alpha (1,3)							70.0	74.0	72.0					10																	75533499		2203	4300	6503	SO:0001819	synonymous_variant	170384				protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr10:75533499C>G	BC036037	CCDS7333.1, CCDS60558.1	10q22.3	2014-01-02			ENSG00000196968	ENSG00000196968		"""Fucosyltransferases"""	19233	protein-coding gene	gene with protein product						11698403, 24318988	Standard	NM_173540		Approved	MGC33202	uc001jva.3	Q495W5	OTTHUMG00000018483	ENST00000372841.3:c.1260C>G	10.37:g.75533499C>G						FUT11_uc001juy.1_3'UTR|FUT11_uc001juz.1_Silent_p.A420A	p.A420A	NM_173540	NP_775811	Q495W5	FUT11_HUMAN			2	1303	+	Prostate(51;0.0112)		420			Lumenal (Potential).		Q495W7|Q8IYE4	Silent	SNP	ENST00000372841.3	37	c.1260C>G	CCDS7333.1																																																																																				0.607	FUT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048689.1	NM_173540		9	74	0	0	0	0.006214	0	9	74				
KAT6B	23522	broad.mit.edu	37	10	76789167	76789167	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:76789167G>A	ENST00000287239.4	+	18	5074	c.4585G>A	c.(4585-4587)Gag>Aag	p.E1529K	KAT6B_ENST00000372711.1_Missense_Mutation_p.E1346K|KAT6B_ENST00000372724.1_Missense_Mutation_p.E1237K|KAT6B_ENST00000372725.1_Missense_Mutation_p.E1237K|KAT6B_ENST00000372714.1_Missense_Mutation_p.E1237K	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1529					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E1529K(1)									AGAGTTCAAAGAGGGAAACCC	0.537																																							uc001jwn.1		NA								T					CREBBP		AML		1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(4585-4587)GAG>AAG		MYST histone acetyltransferase (monocytic							114.0	114.0	114.0					10																	76789167		2203	4300	6503	SO:0001583	missense	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76789167G>A	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4585G>A	10.37:g.76789167G>A	ENSP00000287239:p.Glu1529Lys					MYST4_uc001jwo.1_Missense_Mutation_p.E1237K|MYST4_uc001jwp.1_Missense_Mutation_p.E1346K	p.E1529K	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			18	5078	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		1529					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	c.4585G>A	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531400	0.27387	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.79454	-1.25;-1.25;-1.27;-1.25;-1.26	4.77	3.83	0.44106	.	0.266755	0.26334	N	0.024963	T	0.67078	0.2855	L	0.34521	1.04	0.45962	D	0.998787	P;B;B	0.45827	0.867;0.16;0.136	B;B;B	0.41510	0.359;0.037;0.183	T	0.67887	-0.5554	10	0.66056	D	0.02	-1.7589	9.2822	0.37735	0.0804:0.1472:0.7724:0.0	.	1346;1237;1529	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	K	1237;1237;1529;1237;1346	ENSP00000361810:E1237K;ENSP00000361809:E1237K;ENSP00000287239:E1529K;ENSP00000361799:E1237K;ENSP00000361796:E1346K	ENSP00000287239:E1529K	E	+	1	0	KAT6B	76459173	1.000000	0.71417	0.986000	0.45419	0.921000	0.55340	6.063000	0.71162	0.951000	0.37770	0.563000	0.77884	GAG		0.537	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		17	76	0	0	0	0.006122	0	17	76				
NRG3	10718	broad.mit.edu	37	10	83635474	83635474	+	Missense_Mutation	SNP	G	G	T	rs147736439	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:83635474G>T	ENST00000404547.1	+	1	378	c.378G>T	c.(376-378)gaG>gaT	p.E126D	NRG3_ENST00000372141.2_Missense_Mutation_p.E126D|NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000556918.1_5'Flank|NRG3_ENST00000372142.2_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	126	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.E126D(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGGCCATGGAGaccaccacca	0.662																																							uc001kco.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|breast(1)	6						c.(376-378)GAG>GAT		neuregulin 3 isoform 1							67.0	75.0	72.0					10																	83635474		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:83635474G>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.378G>T	10.37:g.83635474G>T	ENSP00000384796:p.Glu126Asp					NRG3_uc010qlz.1_Missense_Mutation_p.E126D|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank	p.E126D	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	1	405	+			126			Ser/Thr-rich.|Extracellular (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.378G>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	g	10.80	1.453231	0.26161	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	T;T	0.30448	1.53;1.53	2.97	2.03	0.26663	.	.	.	.	.	T	0.13586	0.0329	N	0.08118	0	0.80722	D	1	B;B	0.22983	0.078;0.078	B;B	0.25884	0.064;0.064	T	0.09618	-1.0666	9	0.17832	T	0.49	-20.9745	7.1473	0.25591	0.1482:0.0:0.8518:0.0	.	126;126	B9EGV5;P56975-4	.;.	D	126	ENSP00000361214:E126D;ENSP00000384796:E126D	ENSP00000361214:E126D	E	+	3	2	NRG3	83625454	0.998000	0.40836	1.000000	0.80357	0.862000	0.49288	0.706000	0.25690	0.563000	0.29222	0.459000	0.35465	GAG		0.662	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		9	15	1	0	2.17888e-05	0.006214	2.60269e-05	9	15				
IFIT1B	439996	broad.mit.edu	37	10	91144225	91144225	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:91144225C>A	ENST00000371809.3	+	2	1235	c.1155C>A	c.(1153-1155)ggC>ggA	p.G385G	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	385								p.G385G(1)		endometrium(2)|large_intestine(3)|lung(8)	13						ACCACTACGGCCGTTTCCAAG	0.378																																							uc001kgh.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1153-1155)GGC>GGA		interferon-induced protein with							80.0	76.0	78.0					10																	91144225		2203	4300	6503	SO:0001819	synonymous_variant	439996						binding	g.chr10:91144225C>A		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.1155C>A	10.37:g.91144225C>A						LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron	p.G385G	NM_001010987	NP_001010987	Q5T764	IFT1B_HUMAN			2	1235	+			385			TPR 7.		A7E245	Silent	SNP	ENST00000371809.3	37	c.1155C>A	CCDS31242.1																																																																																				0.378	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		13	41	1	0	6.31663e-08	0.003163	8.44374e-08	13	41				
LGI1	9211	broad.mit.edu	37	10	95552545	95552545	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:95552545G>T	ENST00000371418.4	+	6	809	c.549G>T	c.(547-549)tgG>tgT	p.W183C	LGI1_ENST00000542308.1_Missense_Mutation_p.W135C|LGI1_ENST00000371413.3_Missense_Mutation_p.W183C	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	183	LRRCT.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)	p.W183C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AACTGAAATGGCTAGTGGAAT	0.473																																							uc001kjc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(547-549)TGG>TGT		leucine-rich, glioma inactivated 1 precursor							120.0	122.0	121.0					10																	95552545		2203	4300	6503	SO:0001583	missense	9211				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding	g.chr10:95552545G>T	AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.549G>T	10.37:g.95552545G>T	ENSP00000360472:p.Trp183Cys					LGI1_uc010qnv.1_Missense_Mutation_p.W135C|LGI1_uc001kjd.3_Missense_Mutation_p.W183C|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_RNA	p.W183C	NM_005097	NP_005088	O95970	LGI1_HUMAN			6	885	+		Colorectal(252;0.124)	183			LRRCT.		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	ENST00000371418.4	37	c.549G>T	CCDS7431.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166899	0.78339	.	.	ENSG00000108231	ENST00000542308;ENST00000371418;ENST00000371413	D;D;D	0.91464	-2.85;-2.85;-2.85	5.45	5.45	0.79879	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97244	0.9099	H	0.96633	3.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.98036	1.0379	10	0.87932	D	0	-3.6982	19.4929	0.95059	0.0:0.0:1.0:0.0	.	135;183;183	O95970-3;O95970-2;O95970	.;.;LGI1_HUMAN	C	135;183;183	ENSP00000440763:W135C;ENSP00000360472:W183C;ENSP00000360467:W183C	ENSP00000360467:W183C	W	+	3	0	LGI1	95542535	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.657000	0.98554	2.835000	0.97688	0.650000	0.86243	TGG		0.473	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097		9	96	1	0	3.09899e-07	0.004482	4.05431e-07	9	96				
CC2D2B	387707	broad.mit.edu	37	10	97776052	97776052	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:97776052T>A	ENST00000344386.3	+	6	667	c.503T>A	c.(502-504)tTg>tAg	p.L168*	CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|CC2D2B_ENST00000410012.2_Nonsense_Mutation_p.L168*|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	168								p.L168*(2)		large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CTGGTCCTCTTGGGAACGTCA	0.398																																							uc001kll.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(502-504)TTG>TAG		coiled-coil and C2 domain containing 2B isoform							92.0	87.0	88.0					10																	97776052		1856	4091	5947	SO:0001587	stop_gained	387707							g.chr10:97776052T>A	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.503T>A	10.37:g.97776052T>A	ENSP00000343747:p.Leu168*					uc001klg.1_Intron|uc001klj.1_Intron|CC2D2B_uc001klk.2_Intron|CC2D2B_uc010qop.1_Nonsense_Mutation_p.L168*	p.L168*	NM_001001732	NP_001001732	Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	6	702	+		Colorectal(252;0.158)	168					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Nonsense_Mutation	SNP	ENST00000344386.3	37	c.503T>A	CCDS41555.1	.	.	.	.	.	.	.	.	.	.	T	35	5.522615	0.96431	.	.	ENSG00000188649	ENST00000451649;ENST00000410012;ENST00000344386	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9013	0.63806	0.0:0.0:0.0:1.0	.	.	.	.	X	168	.	ENSP00000343747:L168X	L	+	2	0	CC2D2B	97766042	1.000000	0.71417	1.000000	0.80357	0.451000	0.32288	3.305000	0.51873	2.277000	0.76020	0.529000	0.55759	TTG		0.398	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		8	50	0	0	0	0.008291	0	8	50				
PPRC1	23082	broad.mit.edu	37	10	103906712	103906712	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:103906712G>C	ENST00000278070.2	+	9	4002	c.3963G>C	c.(3961-3963)tgG>tgC	p.W1321C	PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.W288C	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.W1321C(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCTCCCGATGGAATGTCAAGC	0.607																																							uc001kum.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3961-3963)TGG>TGC		peroxisome proliferator-activated receptor							59.0	58.0	59.0					10																	103906712		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103906712G>C	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3963G>C	10.37:g.103906712G>C	ENSP00000278070:p.Trp1321Cys					PPRC1_uc001kun.2_Missense_Mutation_p.W1201C|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron	p.W1321C	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	4002	+		Colorectal(252;0.122)	1321					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.3963G>C	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140179	0.77775	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.73258	-0.5;-0.73	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.83792	0.5331	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.83671	0.0166	10	0.54805	T	0.06	.	19.7135	0.96105	0.0:0.0:1.0:0.0	.	1201;1321	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	C	1321;288	ENSP00000278070:W1321C;ENSP00000359029:W288C	ENSP00000278070:W1321C	W	+	3	0	PPRC1	103896702	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.253000	0.95501	2.665000	0.90641	0.462000	0.41574	TGG		0.607	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		4	33	0	0	0	0.000602	0	4	33				
GBF1	8729	broad.mit.edu	37	10	104123116	104123116	+	Silent	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:104123116A>G	ENST00000369983.3	+	16	2237	c.1977A>G	c.(1975-1977)tcA>tcG	p.S659S		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	659					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.S659S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATGGGAAATCAGGATGCAGTG	0.597																																							uc001kux.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1975-1977)TCA>TCG		golgi-specific brefeldin A resistant guanine							97.0	98.0	98.0					10																	104123116		2203	4300	6503	SO:0001819	synonymous_variant	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104123116A>G	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.1977A>G	10.37:g.104123116A>G						GBF1_uc001kuy.1_Silent_p.S659S|GBF1_uc001kuz.1_Silent_p.S660S	p.S659S	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	16	2217	+		Colorectal(252;0.0236)	659					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	ENST00000369983.3	37	c.1977A>G	CCDS7533.1																																																																																				0.597	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			3	83	0	0	0	0.004672	0	3	83				
GBF1	8729	broad.mit.edu	37	10	104129046	104129046	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:104129046C>T	ENST00000369983.3	+	24	3309	c.3049C>T	c.(3049-3051)Cat>Tat	p.H1017Y		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1017					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.H1017Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCATTTGGCCCATCGTCATGG	0.507																																							uc001kux.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3049-3051)CAT>TAT		golgi-specific brefeldin A resistant guanine							146.0	134.0	138.0					10																	104129046		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104129046C>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.3049C>T	10.37:g.104129046C>T	ENSP00000359000:p.His1017Tyr					GBF1_uc001kuy.1_Missense_Mutation_p.H1017Y|GBF1_uc001kuz.1_Missense_Mutation_p.H1018Y	p.H1017Y	NM_004193	NP_004184	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	24	3289	+		Colorectal(252;0.0236)	1017					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.3049C>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705227	0.89018	.	.	ENSG00000107862	ENST00000369983	T	0.67698	-0.28	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.83110	0.5183	M	0.84511	2.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.85130	0.987;0.997;0.968	T	0.77035	-0.2737	10	0.09590	T	0.72	-12.2697	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1017;1017;1017	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	Y	1017	ENSP00000359000:H1017Y	ENSP00000359000:H1017Y	H	+	1	0	GBF1	104119036	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CAT		0.507	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			17	114	0	0	0	0.004007	0	17	114				
TMEM180	79847	broad.mit.edu	37	10	104233400	104233400	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:104233400G>T	ENST00000238936.4	+	8	1236	c.999G>T	c.(997-999)gcG>gcT	p.A333A	TMEM180_ENST00000366277.2_Silent_p.A62A	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	333						integral component of membrane (GO:0016021)		p.A333A(1)		breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCGTCTACGCGGTGGTGCGGG	0.637																																							uc001kvt.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(997-999)GCG>GCT		transmembrane protein 180							131.0	130.0	131.0					10																	104233400		2203	4300	6503	SO:0001819	synonymous_variant	79847					integral to membrane		g.chr10:104233400G>T	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.999G>T	10.37:g.104233400G>T						TMEM180_uc010qql.1_Silent_p.A62A|TMEM180_uc010qqm.1_Silent_p.A182A	p.A333A	NM_024789	NP_079065	Q14CX5	TM180_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	8	1218	+		Colorectal(252;0.122)	333			Helical; (Potential).		Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Silent	SNP	ENST00000238936.4	37	c.999G>T	CCDS7535.1																																																																																				0.637	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789		10	87	1	0	7.48243e-07	0.006214	9.59663e-07	10	87				
NRAP	4892	broad.mit.edu	37	10	115406740	115406740	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:115406740G>T	ENST00000359988.3	-	10	1179	c.935C>A	c.(934-936)cCa>cAa	p.P312Q	NRAP_ENST00000369360.3_Missense_Mutation_p.P312Q|NRAP_ENST00000360478.3_Missense_Mutation_p.P312Q|NRAP_ENST00000369358.4_Missense_Mutation_p.P312Q	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.P312Q(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GATCATAGCTGGGAAGCTGCC	0.537																																							uc001laj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10						c.(934-936)CCA>CAA		nebulin-related anchoring protein isoform S							253.0	196.0	215.0					10																	115406740		2203	4300	6503	SO:0001583	missense	4892					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	g.chr10:115406740G>T		CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.935C>A	10.37:g.115406740G>T	ENSP00000353078:p.Pro312Gln					NRAP_uc001lak.2_Missense_Mutation_p.P312Q|NRAP_uc001lal.3_Missense_Mutation_p.P312Q	p.P312Q	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN		Epithelial(162;0.00392)|all cancers(201;0.00569)	10	1099	-		Colorectal(252;0.0233)|Breast(234;0.188)	312						Missense_Mutation	SNP	ENST00000359988.3	37	c.935C>A	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	G	31	5.061352	0.93846	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350;ENST00000369343	T;T;T;T	0.19532	2.33;2.35;2.24;2.14	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.991	T	0.47837	-0.9086	10	0.56958	D	0.05	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	312;312;312	A0AVL2;Q86VF7-4;Q86VF7	.;.;NRAP_HUMAN	Q	312;312;312;312;41;41	ENSP00000358365:P312Q;ENSP00000358367:P312Q;ENSP00000353078:P312Q;ENSP00000353666:P312Q	ENSP00000353078:P312Q	P	-	2	0	NRAP	115396730	1.000000	0.71417	0.993000	0.49108	0.971000	0.66376	9.038000	0.93771	2.861000	0.98227	0.655000	0.94253	CCA		0.537	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175		10	108	1	0	6.40141e-05	0.010729	7.4174e-05	10	108				
PPAPDC1A	196051	broad.mit.edu	37	10	122263398	122263398	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:122263398C>A	ENST00000398250.1	+	2	477	c.125C>A	c.(124-126)cCt>cAt	p.P42H	PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.P42H|PPAPDC1A_ENST00000398248.1_Missense_Mutation_p.P42H|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.P42H|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.P32H	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	42					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phospholipid dephosphorylation (GO:0046839)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)	p.P42H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		TATAAAAATCCTTTGGTGCAA	0.383																																							uc001lev.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(124-126)CCT>CAT		phosphatidic acid phosphatase type 2 domain							147.0	138.0	141.0					10																	122263398		1837	4090	5927	SO:0001583	missense	196051				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity	g.chr10:122263398C>A	AK098668	CCDS41573.1	10q26.13	2008-02-05		2005-07-15	ENSG00000203805	ENSG00000203805			23531	protein-coding gene	gene with protein product			"""phosphatidic acid phosphatase type 2 domain containing 1"""	PPAPDC1			Standard	XM_005269592		Approved		uc001lev.1	Q5VZY2	OTTHUMG00000019168	ENST00000398250.1:c.125C>A	10.37:g.122263398C>A	ENSP00000381302:p.Pro42His					PPAPDC1A_uc010qtd.1_Missense_Mutation_p.P42H|PPAPDC1A_uc009xzl.1_Missense_Mutation_p.P42H|PPAPDC1A_uc001lew.1_Missense_Mutation_p.P42H|PPAPDC1A_uc001lex.1_Missense_Mutation_p.P42H|PPAPDC1A_uc001ley.1_5'UTR	p.P42H	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN		all cancers(201;0.0117)	2	477	+		Lung NSC(174;0.1)|all_lung(145;0.132)	42					A2RU82|Q08EQ2|Q0IIP2|Q495B4|Q5VZY1	Missense_Mutation	SNP	ENST00000398250.1	37	c.125C>A	CCDS41573.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196355	0.78902	.	.	ENSG00000203805	ENST00000398248;ENST00000439221;ENST00000398250;ENST00000427079;ENST00000541332;ENST00000369073	T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.83830	0.5339	L	0.49350	1.555	0.80722	D	1	P;D;D;P	0.89917	0.617;1.0;1.0;0.925	P;D;D;P	0.97110	0.542;1.0;0.999;0.846	D	0.84937	0.0863	10	0.66056	D	0.02	12.5668	19.0048	0.92846	0.0:1.0:0.0:0.0	.	42;42;42;42	B7Z3R3;Q5VZY2-2;Q5VZY2-4;Q5VZY2	.;.;.;PPC1A_HUMAN	H	42;42;42;42;42;32	ENSP00000381302:P42H;ENSP00000407979:P42H;ENSP00000440493:P42H;ENSP00000358069:P32H	ENSP00000358069:P32H	P	+	2	0	PPAPDC1A	122253388	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	7.192000	0.77771	2.480000	0.83734	0.655000	0.94253	CCT		0.383	PPAPDC1A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_113641		11	53	1	0	0.000673444	0.008291	0.000734666	11	53				
ATE1	11101	broad.mit.edu	37	10	123596233	123596233	+	Splice_Site	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:123596233C>T	ENST00000224652.6	-	10	1342	c.1257G>A	c.(1255-1257)aaG>aaA	p.K419K	ATE1_ENST00000543447.1_Splice_Site_p.K304K|ATE1_ENST00000369040.3_Splice_Site_p.K323K|ATE1_ENST00000535655.1_Splice_Site_p.K120K|ATE1_ENST00000369043.3_Splice_Site_p.K419K|ATE1_ENST00000540606.1_Splice_Site_p.K412K	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	419					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)	p.K419K(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TCAACTTTACCTTATATTTCA	0.318																																							uc001lfp.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1255-1257)AAG>AAA		arginyltransferase 1 isoform 2							41.0	44.0	43.0					10																	123596233		2195	4292	6487	SO:0001630	splice_region_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123596233C>T	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1257+1G>A	10.37:g.123596233C>T						ATE1_uc001lfq.2_Silent_p.K419K|ATE1_uc010qtr.1_Silent_p.K304K|ATE1_uc010qts.1_Silent_p.K323K|ATE1_uc010qtt.1_Silent_p.K412K|ATE1_uc001lfr.2_Silent_p.K120K|ATE1_uc009xzu.2_RNA	p.K419K	NM_007041	NP_008972	O95260	ATE1_HUMAN			10	1339	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	419					O95261|Q5SQQ3|Q8WW04	Silent	SNP	ENST00000224652.6	37	c.1257G>A	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775536	0.49786	.	.	ENSG00000107669	ENST00000423243	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	T	0.76912	0.4054	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74315	-0.3705	4	.	.	.	-2.8218	20.1208	0.97960	0.0:1.0:0.0:0.0	.	.	.	.	R	416	.	.	G	-	1	0	ATE1	123586223	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.762000	0.85270	2.758000	0.94735	0.655000	0.94253	GGG		0.318	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976	Silent	13	73	0	0	0	0.001368	0	13	73				
DMBT1	1755	broad.mit.edu	37	10	124399744	124399744	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:124399744C>A	ENST00000338354.3	+	52	6850	c.6744C>A	c.(6742-6744)gtC>gtA	p.V2248V	DMBT1_ENST00000344338.3_Silent_p.V2238V|DMBT1_ENST00000330163.4_Silent_p.V1620V|DMBT1_ENST00000368909.3_Silent_p.V2248V|DMBT1_ENST00000368956.2_Silent_p.V1620V|DMBT1_ENST00000359586.6_Silent_p.V968V|DMBT1_ENST00000368955.3_Silent_p.V2238V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2248	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.V2248V(2)|p.V2377V(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCGAGGAAGTCCAGTATGGCA	0.473																																					Ovarian(182;93 2026 18125 22222 38972)	Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	3	Substitution - coding silent(3)		lung(3)	central_nervous_system(7)	7						c.(6742-6744)GTC>GTA		deleted in malignant brain tumors 1 isoform b							278.0	261.0	267.0					10																	124399744		2057	4197	6254	SO:0001819	synonymous_variant	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124399744C>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6744C>A	10.37:g.124399744C>A						DMBT1_uc001lgl.1_Silent_p.V2238V|DMBT1_uc001lgm.1_Silent_p.V1620V|DMBT1_uc009xzz.1_Silent_p.V2247V|DMBT1_uc010qtx.1_Silent_p.V968V|DMBT1_uc009yab.1_Silent_p.V951V|DMBT1_uc009yac.1_Silent_p.V542V	p.V2248V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			52	6850	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2248			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Silent	SNP	ENST00000338354.3	37	c.6744C>A																																																																																					0.473	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		33	128	1	0	3.90053e-15	0.012213	6.28418e-15	33	128				
MKI67	4288	broad.mit.edu	37	10	129906292	129906292	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr10:129906292C>T	ENST00000368654.3	-	13	4187	c.3812G>A	c.(3811-3813)aGa>aAa	p.R1271K	MKI67_ENST00000368653.3_Missense_Mutation_p.R911K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1271	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.R1271K(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGATACTTCTCTTGGGTCG	0.498																																							uc001lke.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(3811-3813)AGA>AAA		antigen identified by monoclonal antibody Ki-67							220.0	212.0	215.0					10																	129906292		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906292C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3812G>A	10.37:g.129906292C>T	ENSP00000357643:p.Arg1271Lys					MKI67_uc001lkf.2_Missense_Mutation_p.R911K|MKI67_uc009yav.1_Missense_Mutation_p.R846K|MKI67_uc009yaw.1_Missense_Mutation_p.R421K	p.R1271K	NM_002417	NP_002408	P46013	KI67_HUMAN			13	4007	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1271			16 X 122 AA approximate repeats.|3.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3812G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236109	0.22626	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02197	4.4;4.4	3.04	-1.34	0.09143	.	0.366064	0.19808	N	0.105599	T	0.02230	0.0069	L	0.44542	1.39	0.09310	N	1	P;P;P	0.47545	0.612;0.612;0.897	B;B;P	0.48488	0.138;0.138;0.579	T	0.29366	-1.0014	10	0.05620	T	0.96	.	4.9296	0.13910	0.4156:0.1662:0.4182:0.0	.	1270;911;1271	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	K	1271;911;1270	ENSP00000357643:R1271K;ENSP00000357642:R911K	ENSP00000357642:R911K	R	-	2	0	MKI67	129796282	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.701000	0.05075	-0.160000	0.11002	-0.502000	0.04539	AGA		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		14	214	0	0	0	0.003163	0	14	214				
PHRF1	57661	broad.mit.edu	37	11	607393	607393	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:607393C>T	ENST00000264555.5	+	14	2065	c.1937C>T	c.(1936-1938)gCg>gTg	p.A646V	PHRF1_ENST00000413872.2_Missense_Mutation_p.A644V|PHRF1_ENST00000533464.1_Missense_Mutation_p.A642V|PHRF1_ENST00000416188.2_Missense_Mutation_p.A645V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	646					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.A651V(1)|p.A646V(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCTCTGCCGCGTCTAAGATC	0.587																																							uc001lqe.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1936-1938)GCG>GTG		PHD and ring finger domains 1							82.0	92.0	89.0					11																	607393		2036	4177	6213	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:607393C>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1937C>T	11.37:g.607393C>T	ENSP00000264555:p.Ala646Val					PHRF1_uc010qwc.1_Missense_Mutation_p.A645V|PHRF1_uc010qwd.1_Missense_Mutation_p.A644V|PHRF1_uc010qwe.1_Missense_Mutation_p.A642V|PHRF1_uc009ybz.1_Missense_Mutation_p.A436V|PHRF1_uc009yca.1_RNA	p.A646V	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			14	2068	+			646					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.1937C>T		.	.	.	.	.	.	.	.	.	.	C	14.76	2.630337	0.46944	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	3.93	3.02	0.34903	.	1.475390	0.04636	N	0.404428	D	0.87489	0.6190	L	0.29908	0.895	0.09310	N	1	B;P;P;B	0.36660	0.429;0.564;0.564;0.429	B;B;B;B	0.33295	0.077;0.161;0.161;0.077	T	0.77830	-0.2442	10	0.56958	D	0.05	-1.4707	9.6866	0.40103	0.0:0.9021:0.0:0.0979	.	642;644;645;646	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	V	646;644;645;642	ENSP00000264555:A646V;ENSP00000388589:A644V;ENSP00000410626:A645V;ENSP00000431870:A642V	ENSP00000264555:A646V	A	+	2	0	PHRF1	597393	0.102000	0.21896	0.001000	0.08648	0.002000	0.02628	2.568000	0.45965	0.850000	0.35239	0.462000	0.41574	GCG		0.587	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		10	103	0	0	0	0.006214	0	10	103				
OR52B4	143496	broad.mit.edu	37	11	4389127	4389127	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:4389127C>A	ENST00000408920.2	-	1	489	c.399G>T	c.(397-399)agG>agT	p.R133S		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	133					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R133S(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTGGTGTACCTCAGTGGGT	0.403																																							uc010qye.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(397-399)AGG>AGT		olfactory receptor, family 52, subfamily B,							102.0	100.0	101.0					11																	4389127		2039	4211	6250	SO:0001583	missense	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4389127C>A	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.399G>T	11.37:g.4389127C>A	ENSP00000386160:p.Arg133Ser						p.R133S	NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	399	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	133			Cytoplasmic (Potential).		A6NP68|Q6IFK6	Missense_Mutation	SNP	ENST00000408920.2	37	c.399G>T	CCDS41609.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636490	0.47049	.	.	ENSG00000221996	ENST00000408920	T	0.00418	7.49	5.28	-3.47	0.04753	GPCR, rhodopsin-like superfamily (1);	0.112992	0.34067	N	0.004285	T	0.00552	0.0018	M	0.91196	3.185	0.28813	N	0.898113	P	0.38455	0.632	B	0.40825	0.341	T	0.31613	-0.9937	10	0.87932	D	0	.	7.0496	0.25065	0.0:0.3692:0.1181:0.5127	.	133	Q8NGK2	O52B4_HUMAN	S	133	ENSP00000386160:R133S	ENSP00000386160:R133S	R	-	3	2	OR52B4	4345703	0.000000	0.05858	0.993000	0.49108	0.782000	0.44232	-3.594000	0.00420	-0.209000	0.10156	-0.759000	0.03464	AGG		0.403	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		14	56	1	0	6.31663e-08	0.003163	8.44374e-08	14	56				
OR52R1	119695	broad.mit.edu	37	11	4825053	4825053	+	Silent	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:4825053A>T	ENST00000356069.2	-	1	557	c.558T>A	c.(556-558)gcT>gcA	p.A186A	OR52R1_ENST00000380382.1_Silent_p.A265A|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A185A(1)|p.A265A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTTCAGCACAGCCATGTGCT	0.517																																							uc010qym.1		NA																	2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(793-795)GCT>GCA		olfactory receptor, family 52, subfamily R,							169.0	129.0	142.0					11																	4825053		2201	4298	6499	SO:0001819	synonymous_variant	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825053A>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.558T>A	11.37:g.4825053A>T							p.A265A	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	795	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	186			Extracellular (Potential).		Q6IFI0	Silent	SNP	ENST00000356069.2	37	c.795T>A	CCDS31360.2																																																																																				0.517	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		7	89	0	0	0	0.00308	0	7	89				
OR52A5	390054	broad.mit.edu	37	11	5153245	5153246	+	Silent	DNP	GG	GG	AT	rs376429729		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5153245_5153246GG>AT	ENST00000307388.1	-	1	626_627	c.627_628CC>AT	c.(625-630)atCCta>atATta	p.209_210IL>IL		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	209					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.(=)(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TCAAACCCTAGGATTGCAAAGG	0.421																																							uc010qyx.1		NA																	1	Unknown(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(625-630)ATCCTA>ATATTA		olfactory receptor, family 52, subfamily A,																																				SO:0001819	synonymous_variant	390054				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5153245_5153246GG>AT	BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.627_628delinsAT	11.37:g.5153245_5153246delinsAT							p.209_210IL>IL	NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	627_628	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)	209_210			Helical; Name=5; (Potential).			Silent	DNP	ENST00000307388.1	37	c.627_628CC>AT	CCDS31373.1																																																																																				0.421	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142823.1	NM_001005160		26	81	0	0	0	0.004672	0	26	81				
OR51V1	283111	broad.mit.edu	37	11	5220986	5220986	+	Silent	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5220986G>C	ENST00000321255.1	-	1	944	c.945C>G	c.(943-945)ctC>ctG	p.L315L		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	315					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L315L(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGAGAAAAGAGTCTAAGCA	0.343																																							uc010qyz.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(943-945)CTC>CTG		olfactory receptor, family 51, subfamily V,							57.0	58.0	58.0					11																	5220986		2201	4298	6499	SO:0001819	synonymous_variant	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5220986G>C	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.945C>G	11.37:g.5220986G>C							p.L315L	NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	945	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	315			Cytoplasmic (Potential).			Silent	SNP	ENST00000321255.1	37	c.945C>G	CCDS31375.1																																																																																				0.343	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		5	54	0	0	0	0.001984	0	5	54				
OR51V1	283111	broad.mit.edu	37	11	5221848	5221848	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5221848C>A	ENST00000321255.1	-	1	82	c.83G>T	c.(82-84)gGc>gTc	p.G28V		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	28					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G28V(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCTCCATGCCAGAAAATCC	0.448																																							uc010qyz.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(82-84)GGC>GTC		olfactory receptor, family 51, subfamily V,							95.0	91.0	93.0					11																	5221848		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221848C>A	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.83G>T	11.37:g.5221848C>A	ENSP00000321729:p.Gly28Val						p.G28V	NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	83	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	28			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000321255.1	37	c.83G>T	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.526640	0.64860	.	.	ENSG00000176742	ENST00000321255	T	0.00659	5.94	5.16	4.24	0.50183	.	0.000000	0.43919	D	0.000501	T	0.06142	0.0159	M	0.91090	3.175	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	T	0.02132	-1.1208	10	0.87932	D	0	.	13.8192	0.63309	0.1544:0.8456:0.0:0.0	.	28	Q9H2C8	O51V1_HUMAN	V	28	ENSP00000321729:G28V	ENSP00000321729:G28V	G	-	2	0	OR51V1	5178424	0.862000	0.29867	0.946000	0.38457	0.081000	0.17604	2.446000	0.44908	1.376000	0.46267	0.650000	0.86243	GGC		0.448	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		19	62	1	0	5.03518e-11	0.007413	7.4458e-11	19	62				
OR51B4	79339	broad.mit.edu	37	11	5322428	5322428	+	Missense_Mutation	SNP	A	A	T	rs554520934	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5322428A>T	ENST00000380224.1	-	1	798	c.749T>A	c.(748-750)aTc>aAc	p.I250N	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	250					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I250N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		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)		CATCACAGTGATGTGAAATAC	0.448																																							uc010qza.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(748-750)ATC>AAC		olfactory receptor, family 51, subfamily B,							101.0	92.0	95.0					11																	5322428		2201	4297	6498	SO:0001583	missense	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5322428A>T	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.749T>A	11.37:g.5322428A>T	ENSP00000369573:p.Ile250Asn					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.I250N	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	749	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	250			Helical; Name=6; (Potential).		A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	c.749T>A	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.038500	0.55003	.	.	ENSG00000183251	ENST00000380224	T	0.39406	1.08	4.25	4.25	0.50352	GPCR, rhodopsin-like superfamily (1);	0.509346	0.16527	N	0.210545	T	0.61689	0.2367	M	0.85630	2.765	0.26000	N	0.982126	D	0.57257	0.979	P	0.60345	0.873	T	0.56962	-0.7892	10	0.87932	D	0	.	8.7928	0.34861	0.8094:0.1906:0.0:0.0	.	250	Q9Y5P0	O51B4_HUMAN	N	250	ENSP00000369573:I250N	ENSP00000369573:I250N	I	-	2	0	OR51B4	5279004	0.084000	0.21492	0.860000	0.33809	0.901000	0.52897	3.827000	0.55745	1.783000	0.52377	0.533000	0.62120	ATC		0.448	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		12	55	0	0	0	0.00245	0	12	55				
OR51M1	390059	broad.mit.edu	37	11	5411240	5411240	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5411240C>G	ENST00000328611.3	+	1	634	c.612C>G	c.(610-612)atC>atG	p.I204M	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	204			I -> T (in dbSNP:rs1498469). {ECO:0000269|PubMed:11121057, ECO:0000269|PubMed:14983052}.		detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I204M(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCACAGATATCACCTTCAATA	0.502																																							uc010qzc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(610-612)ACC>ACG		olfactory receptor, family 51, subfamily M,							147.0	140.0	142.0					11																	5411240		2021	4195	6216	SO:0001583	missense	390059					integral to membrane	olfactory receptor activity	g.chr11:5411240C>G	BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.612C>G	11.37:g.5411240C>G	ENSP00000333196:p.Ile204Met					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.T204T	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	612	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	204					Q6IF80	Silent	SNP	ENST00000328611.3	37	c.612C>G	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	C	4.071	0.011049	0.07912	.	.	ENSG00000184698	ENST00000328611	T	0.00130	8.69	5.26	-2.06	0.07298	.	0.000000	0.35067	U	0.003470	T	0.00328	0.0010	M	0.93420	3.415	0.09310	N	1	.	.	.	.	.	.	T	0.48490	-0.9031	8	0.62326	D	0.03	.	2.0283	0.03523	0.1221:0.4172:0.2379:0.2228	.	.	.	.	M	204	ENSP00000333196:I204M	ENSP00000333196:I204M	I	+	3	3	OR51M1	5367816	0.000000	0.05858	0.091000	0.20842	0.134000	0.20937	-1.716000	0.01878	-0.188000	0.10499	-0.150000	0.13652	ATC		0.502	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756		7	112	0	0	0	0.001984	0	7	112				
OR51I1	390063	broad.mit.edu	37	11	5462321	5462321	+	Missense_Mutation	SNP	G	G	T	rs141201376		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5462321G>T	ENST00000380211.1	-	1	423	c.424C>A	c.(424-426)Cgt>Agt	p.R142S	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	142					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R142C(1)|p.R142S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCAATATACGGTTGTGAGTG	0.478																																							uc010qze.1		NA																	2	Substitution - Missense(2)		lung(1)|central_nervous_system(1)	ovary(1)	1						c.(424-426)CGT>AGT		olfactory receptor, family 51, subfamily I,							139.0	108.0	119.0					11																	5462321		2201	4297	6498	SO:0001583	missense	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462321G>T	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.424C>A	11.37:g.5462321G>T	ENSP00000369559:p.Arg142Ser					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.R142S	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	424	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	142			Helical; Name=4; (Potential).		B9EKW2|Q6IF33	Missense_Mutation	SNP	ENST00000380211.1	37	c.424C>A	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	G	4.228	0.041131	0.08196	.	.	ENSG00000167359	ENST00000317283;ENST00000321307;ENST00000380211	T	0.40225	1.04	5.74	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.243881	0.29059	N	0.013271	T	0.43233	0.1238	M	0.87682	2.9	0.09310	N	1	B	0.19935	0.04	B	0.22152	0.038	T	0.44205	-0.9343	10	0.46703	T	0.11	.	4.3293	0.11055	0.0819:0.2709:0.4988:0.1483	.	142	Q9H343	O51I1_HUMAN	S	127;139;142	ENSP00000369559:R142S	ENSP00000348350:R127S	R	-	1	0	OR51I1	5418897	0.000000	0.05858	0.320000	0.25306	0.119000	0.20118	-1.507000	0.02268	1.412000	0.46977	0.551000	0.68910	CGT		0.478	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		9	62	1	0	2.74318e-10	0.006214	3.98314e-10	9	62				
OR52N4	390072	broad.mit.edu	37	11	5776426	5776426	+	Silent	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5776426G>C	ENST00000317254.3	+	1	504	c.456G>C	c.(454-456)ctG>ctC	p.L152L	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L152L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		CCACCTTCCTGAGAGGGGTAT	0.488																																							uc001mbu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(454-456)CTG>CTC		olfactory receptor, family 52, subfamily N,							140.0	139.0	139.0					11																	5776426		2200	4297	6497	SO:0001819	synonymous_variant	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776426G>C	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.456G>C	11.37:g.5776426G>C						TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.L152L	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	504	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	152			Helical; Name=4; (Potential).		B2RNP8|Q6IF77	Silent	SNP	ENST00000317254.3	37	c.456G>C	CCDS44528.1																																																																																				0.488	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		32	110	0	0	0	0.009535	0	32	110				
OR52N1	79473	broad.mit.edu	37	11	5809676	5809676	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5809676T>A	ENST00000317078.1	-	1	370	c.371A>T	c.(370-372)cAc>cTc	p.H124L	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H124L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGCCACACAGTGGTCCAGGGC	0.512																																							uc010qzo.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(370-372)CAC>CTC		olfactory receptor, family 52, subfamily N,							159.0	138.0	145.0					11																	5809676		2201	4296	6497	SO:0001583	missense	79473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5809676T>A	AB065538	CCDS31398.1	11p15.4	2012-08-09			ENSG00000181001	ENSG00000181001		"""GPCR / Class A : Olfactory receptors"""	14853	protein-coding gene	gene with protein product							Standard	NM_001001913		Approved		uc010qzo.2	Q8NH53	OTTHUMG00000168800	ENST00000317078.1:c.371A>T	11.37:g.5809676T>A	ENSP00000322823:p.His124Leu					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.H124L	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	371	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	124			Cytoplasmic (Potential).		Q6IFF6	Missense_Mutation	SNP	ENST00000317078.1	37	c.371A>T	CCDS31398.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.425835	0.25726	.	.	ENSG00000181001	ENST00000317078	T	0.36878	1.23	4.59	3.68	0.42216	GPCR, rhodopsin-like superfamily (1);	0.126914	0.35772	N	0.002987	T	0.23766	0.0575	N	0.17474	0.49	0.30451	N	0.775231	B	0.02656	0.0	B	0.04013	0.001	T	0.20706	-1.0267	10	0.87932	D	0	.	12.096	0.53755	0.0:0.9146:0.0:0.0854	.	124	Q8NH53	O52N1_HUMAN	L	124	ENSP00000322823:H124L	ENSP00000322823:H124L	H	-	2	0	OR52N1	5766252	1.000000	0.71417	0.994000	0.49952	0.082000	0.17680	4.716000	0.61916	1.279000	0.44446	-0.190000	0.12839	CAC		0.512	OR52N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401142.1	NM_001001913		6	106	0	0	0	0.001168	0	6	106				
OR52E6	390078	broad.mit.edu	37	11	5862468	5862468	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5862468G>T	ENST00000329322.5	-	1	659	c.660C>A	c.(658-660)atC>atA	p.I220I	OR52E6_ENST00000379946.2_Silent_p.I224I|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I224I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGGATCCTGATATGGGAGA	0.468																																							uc010qzq.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(658-660)ATC>ATA		olfactory receptor, family 52, subfamily E,							52.0	52.0	52.0					11																	5862468		2197	4296	6493	SO:0001819	synonymous_variant	390078				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5862468G>T	AB065815	CCDS53597.1	11p15.4	2012-08-09				ENSG00000205409		"""GPCR / Class A : Olfactory receptors"""	15215	protein-coding gene	gene with protein product							Standard	NM_001005167		Approved		uc010qzq.2	Q96RD3		ENST00000329322.5:c.660C>A	11.37:g.5862468G>T						TRIM5_uc001mbq.1_Intron	p.I220I	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	660	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	220			Cytoplasmic (Potential).		Q6IFF8	Silent	SNP	ENST00000329322.5	37	c.660C>A	CCDS53597.1																																																																																				0.468	OR52E6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401144.1	NM_001005167		5	56	1	0	0.000602214	0.000602	0.000659027	5	56				
OR52E4	390081	broad.mit.edu	37	11	5905568	5905568	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:5905568C>T	ENST00000316987.2	+	1	68	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L16L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCTTCCTCCTGCTAGGAAT	0.428																																							uc010qzs.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(46-48)CTG>TTG		olfactory receptor, family 52, subfamily E,							171.0	168.0	169.0					11																	5905568		2201	4296	6497	SO:0001819	synonymous_variant	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5905568C>T	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.46C>T	11.37:g.5905568C>T						TRIM5_uc001mbq.1_Intron	p.L16L	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	46	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	16			Extracellular (Potential).		Q6IFG0	Silent	SNP	ENST00000316987.2	37	c.46C>T	CCDS31401.1																																																																																				0.428	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		48	182	0	0	0	0.00361	0	48	182				
OR56A4	120793	broad.mit.edu	37	11	6024334	6024334	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:6024334G>A	ENST00000330728.4	-	1	90	c.45C>T	c.(43-45)ggC>ggT	p.G15G		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G15G(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCACTGAGGCCCTGTATCT	0.373																																							uc010qzv.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(43-45)GGC>GGT		olfactory receptor, family 56, subfamily A,							108.0	121.0	117.0					11																	6024334		2201	4296	6497	SO:0001819	synonymous_variant	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6024334G>A	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.45C>T	11.37:g.6024334G>A							p.G15G	NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	45	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	Error:Variant_position_missing_in_Q8NGH8_after_alignment					B9EH17	Silent	SNP	ENST00000330728.4	37	c.45C>T	CCDS31404.1																																																																																				0.373	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		11	45	0	0	0	0.001368	0	11	45				
CCKBR	887	broad.mit.edu	37	11	6291464	6291464	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:6291464C>A	ENST00000334619.2	+	3	743	c.550C>A	c.(550-552)Cta>Ata	p.L184I	CCKBR_ENST00000532715.1_Missense_Mutation_p.L100I|CCKBR_ENST00000525014.1_3'UTR|CCKBR_ENST00000525462.1_Missense_Mutation_p.L184I	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	184					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)	p.L184I(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTGTCCGGACTACTCATGGT	0.672																																							uc001mcp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)|ovary(2)|breast(1)	8						c.(550-552)CTA>ATA		cholecystokinin B receptor	Pentagastrin(DB00183)						58.0	48.0	52.0					11																	6291464		2201	4296	6497	SO:0001583	missense	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6291464C>A	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.550C>A	11.37:g.6291464C>A	ENSP00000335544:p.Leu184Ile					CCKBR_uc001mcq.2_Missense_Mutation_p.L112I|CCKBR_uc001mcr.2_Missense_Mutation_p.L184I|CCKBR_uc001mcs.2_Missense_Mutation_p.L184I|CCKBR_uc001mct.1_5'Flank	p.L184I	NM_176875	NP_795344	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	3	743	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	184			Helical; Name=4; (Potential).		A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	c.550C>A	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.789585	0.50102	.	.	ENSG00000110148	ENST00000334619;ENST00000532715;ENST00000525462	T;T;T	0.43294	0.95;0.95;0.95	5.33	2.69	0.31865	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.32224	0.0822	L	0.45581	1.43	0.29968	N	0.81877	P;P;P	0.41597	0.592;0.46;0.756	B;B;B	0.42882	0.239;0.279;0.401	T	0.21348	-1.0248	10	0.10636	T	0.68	.	6.8845	0.24191	0.0:0.7067:0.1439:0.1494	.	184;118;184	P32239-2;P32239-3;P32239	.;.;GASR_HUMAN	I	184;100;184	ENSP00000335544:L184I;ENSP00000432079:L100I;ENSP00000435534:L184I	ENSP00000335544:L184I	L	+	1	2	CCKBR	6248040	0.000000	0.05858	0.883000	0.34634	0.992000	0.81027	-0.719000	0.04974	0.293000	0.22520	0.655000	0.94253	CTA		0.672	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		4	49	1	0	0.00116845	0.001168	0.00126673	4	49				
OR10A2	341276	broad.mit.edu	37	11	6891129	6891129	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:6891129C>T	ENST00000307322.4	+	1	206	c.144C>T	c.(142-144)ttC>ttT	p.F48F		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	48						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F48F(1)		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)		CCATGTACTTCTTCCTCAGAA	0.498																																							uc001meu.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(142-144)TTC>TTT		olfactory receptor, family 10, subfamily A,							158.0	151.0	153.0					11																	6891129		2201	4293	6494	SO:0001819	synonymous_variant	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891129C>T	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.144C>T	11.37:g.6891129C>T							p.F48F	NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	144	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	48			Helical; Name=2; (Potential).		B2RNL9|Q6IFG9	Silent	SNP	ENST00000307322.4	37	c.144C>T	CCDS31415.1																																																																																				0.498	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		16	191	0	0	0	0.004007	0	16	191				
OR2D2	120776	broad.mit.edu	37	11	6913519	6913519	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:6913519G>A	ENST00000299459.2	-	1	311	c.213C>T	c.(211-213)ctC>ctT	p.L71L		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	71					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L71L(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TAGAGAAACAGAGGTCAGCCA	0.453																																							uc010rau.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(211-213)CTC>CTT		olfactory receptor, family 2, subfamily D,							95.0	88.0	90.0					11																	6913519		2201	4296	6497	SO:0001819	synonymous_variant	120776				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6913519G>A	AB065824	CCDS31416.1	11p15.4	2012-08-09			ENSG00000166368	ENSG00000166368		"""GPCR / Class A : Olfactory receptors"""	8244	protein-coding gene	gene with protein product		608494		OR2D1		9787077	Standard	NM_003700		Approved	OR11-610, hg27	uc010rau.2	Q9H210	OTTHUMG00000165741	ENST00000299459.2:c.213C>T	11.37:g.6913519G>A							p.L71L	NM_003700	NP_003691	Q9H210	OR2D2_HUMAN		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	213	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	71			Helical; Name=2; (Potential).		B9EIL5|O95224|Q6IF28|Q8NGH4|Q96R52	Silent	SNP	ENST00000299459.2	37	c.213C>T	CCDS31416.1																																																																																				0.453	OR2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385986.1	NM_003700		13	48	0	0	0	0.001368	0	13	48				
RNF141	50862	broad.mit.edu	37	11	10540598	10540598	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:10540598C>T	ENST00000265981.2	-	5	667	c.525G>A	c.(523-525)caG>caA	p.Q175Q	RNF141_ENST00000528665.1_Silent_p.Q175Q	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	175					protein autoubiquitination (GO:0051865)|regulation of transcription, DNA-templated (GO:0006355)		DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q175Q(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		CAATACACTTCTGACAAAAGC	0.463																																					Ovarian(8;377 410 25844 26058 41491)	Ovarian(8;377 410 25844 26058 41491)	uc001mis.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(523-525)CAG>CAA		ring finger protein 141							124.0	100.0	108.0					11																	10540598		2201	4294	6495	SO:0001819	synonymous_variant	50862						zinc ion binding	g.chr11:10540598C>T	AF214680	CCDS7803.1	11p15.3	2013-01-09			ENSG00000110315	ENSG00000110315		"""RING-type (C3HC4) zinc fingers"""	21159	protein-coding gene	gene with protein product						11672448	Standard	NM_016422		Approved	ZFP26, ZNF230	uc001mis.1	Q8WVD5		ENST00000265981.2:c.525G>A	11.37:g.10540598C>T						RNF141_uc009yga.1_RNA|RNF141_uc001mit.1_Silent_p.Q175Q	p.Q175Q	NM_016422	NP_057506	Q8WVD5	RN141_HUMAN		all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)	5	678	-			175			RING-type.		A8K149|Q9NZB4	Silent	SNP	ENST00000265981.2	37	c.525G>A	CCDS7803.1																																																																																				0.463	RNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385888.1	NM_016422		3	60	0	0	0	0.004672	0	3	60				
MICAL2	9645	broad.mit.edu	37	11	12265624	12265624	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:12265624C>G	ENST00000256194.4	+	21	3037	c.2749C>G	c.(2749-2751)Cca>Gca	p.P917A	MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.P917A|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000537344.1_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	917					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.P917A(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TTCTTCCTCTCCATCAACTGT	0.488																																							uc001mjz.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)	2						c.(2749-2751)CCA>GCA		microtubule associated monoxygenase, calponin							380.0	330.0	347.0					11																	12265624		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12265624C>G	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2749C>G	11.37:g.12265624C>G	ENSP00000256194:p.Pro917Ala					MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.2_Missense_Mutation_p.P917A|MICAL2_uc010rci.1_Missense_Mutation_p.P917A|MICAL2_uc001mkb.2_Intron|MICAL2_uc001mkc.2_Intron|MICAL2_uc001mkd.2_Intron|MICAL2_uc010rcj.1_Intron|MICAL2_uc001mkf.2_RNA	p.P917A	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	21	3037	+			917					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.2749C>G	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	C	9.904	1.207698	0.22205	.	.	ENSG00000133816	ENST00000256194;ENST00000342902	T;T	0.60797	0.18;0.16	5.26	4.34	0.51931	.	0.196102	0.31301	N	0.007885	T	0.40372	0.1114	N	0.24115	0.695	0.80722	D	1	B;B	0.18166	0.026;0.003	B;B	0.21917	0.037;0.002	T	0.21965	-1.0230	10	0.26408	T	0.33	.	9.3412	0.38080	0.0:0.7846:0.0:0.2154	.	917;917	G3XAC8;O94851	.;MICA2_HUMAN	A	917	ENSP00000256194:P917A;ENSP00000344894:P917A	ENSP00000256194:P917A	P	+	1	0	MICAL2	12222200	1.000000	0.71417	0.922000	0.36590	0.325000	0.28411	1.083000	0.30815	2.622000	0.88805	0.563000	0.77884	CCA		0.488	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632		40	232	0	0	0	0.013114	0	40	232				
MICALCL	84953	broad.mit.edu	37	11	12315660	12315660	+	Missense_Mutation	SNP	C	C	T	rs375396557		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:12315660C>T	ENST00000256186.2	+	3	973	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	228					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)	p.R228C(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AAAACCAGTCCGCCCCCTGCT	0.607																																							uc001mkg.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(682-684)CGC>TGC		MICAL C-terminal like		C	CYS/ARG	0,3778		0,0,1889	38.0	41.0	40.0		682	-2.3	0.0	11		40	3,8197		0,3,4097	no	missense	MICALCL	NM_032867.2	180	0,3,5986	TT,TC,CC		0.0366,0.0,0.025	benign	228/696	12315660	3,11975	1889	4100	5989	SO:0001583	missense	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12315660C>T	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.682C>T	11.37:g.12315660C>T	ENSP00000256186:p.Arg228Cys						p.R228C	NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	973	+			228					Q7RTP7|Q96JU6	Missense_Mutation	SNP	ENST00000256186.2	37	c.682C>T	CCDS41620.1	.	.	.	.	.	.	.	.	.	.	C	7.600	0.672639	0.14776	0.0	3.66E-4	ENSG00000133808	ENST00000256186	T	0.07908	3.15	4.49	-2.34	0.06704	.	1.892250	0.02456	N	0.086067	T	0.04227	0.0117	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36986	-0.9725	10	0.33940	T	0.23	.	0.1616	0.00104	0.3019:0.2537:0.1483:0.2961	.	228	Q6ZW33	MICLK_HUMAN	C	228	ENSP00000256186:R228C	ENSP00000256186:R228C	R	+	1	0	MICALCL	12272236	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.134000	0.01307	-0.087000	0.12528	-0.259000	0.10710	CGC		0.607	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		4	66	0	0	0	0.009096	0	4	66				
RPS13	6207	broad.mit.edu	37	11	17097027	17097027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:17097027G>A	ENST00000525634.1	-	4	440	c.295C>T	c.(295-297)Cga>Tga	p.R99*	SNORD14A_ENST00000606526.1_RNA|SNORD14B_ENST00000364533.1_RNA|AC116533.1_ENST00000408395.1_RNA|PIK3C2A_ENST00000531428.1_5'Flank|RPS13_ENST00000228140.2_Nonsense_Mutation_p.R99*|RPS13_ENST00000526895.1_5'UTR			P62277	RS13_HUMAN	ribosomal protein S13	99					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|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)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R99*(1)|p.R99G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						AGATGCTTTCGAACAGCAACT	0.353																																							uc001mmp.2		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)		0						c.(295-297)CGA>TGA		ribosomal protein S13							73.0	70.0	71.0					11																	17097027		2200	4294	6494	SO:0001587	stop_gained	6207				endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome	g.chr11:17097027G>A	X79239	CCDS7823.1	11p	2011-04-05			ENSG00000110700	ENSG00000110700		"""S ribosomal proteins"""	10386	protein-coding gene	gene with protein product	"""40S ribosomal protein S13"""	180476				8332508, 9582194	Standard	NM_001017		Approved	S13	uc001mmp.3	P62277	OTTHUMG00000165988	ENST00000525634.1:c.295C>T	11.37:g.17097027G>A	ENSP00000435777:p.Arg99*						p.R99*	NM_001017	NP_001008	P62277	RS13_HUMAN			4	327	-			99					B2R549|P19116|Q02546|Q29200|Q498Y0	Nonsense_Mutation	SNP	ENST00000525634.1	37	c.295C>T	CCDS7823.1	.	.	.	.	.	.	.	.	.	.	G	33	5.197178	0.94960	.	.	ENSG00000110700	ENST00000228140;ENST00000525634	.	.	.	5.76	2.76	0.32466	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0363	14.7772	0.69738	0.0:0.0:0.6244:0.3756	.	.	.	.	X	99	.	ENSP00000228140:R99X	R	-	1	2	RPS13	17053603	1.000000	0.71417	0.658000	0.29665	0.991000	0.79684	3.368000	0.52357	0.308000	0.22923	0.655000	0.94253	CGA		0.353	RPS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387320.2	NM_001017		10	43	0	0	0	0.010729	0	10	43				
PTPN5	84867	broad.mit.edu	37	11	18762209	18762209	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:18762209G>T	ENST00000358540.2	-	8	1286	c.856C>A	c.(856-858)Caa>Aaa	p.Q286K	PTPN5_ENST00000396170.1_Missense_Mutation_p.Q254K|PTPN5_ENST00000396171.4_Missense_Mutation_p.Q286K|PTPN5_ENST00000396167.2_Missense_Mutation_p.Q254K|PTPN5_ENST00000496201.2_5'Flank|PTPN5_ENST00000477854.1_Missense_Mutation_p.Q90K|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Missense_Mutation_p.Q262K	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	286					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)	p.Q286K(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TCTTCTGCTTGGAGGACACGG	0.612																																							uc001mpd.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(856-858)CAA>AAA		protein-tyrosine-phosphatase non-receptor 5							67.0	68.0	68.0					11																	18762209		2199	4293	6492	SO:0001583	missense	84867					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	g.chr11:18762209G>T	BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.856C>A	11.37:g.18762209G>T	ENSP00000351342:p.Gln286Lys					PTPN5_uc001mpb.2_Missense_Mutation_p.Q254K|PTPN5_uc001mpc.2_Missense_Mutation_p.Q286K|PTPN5_uc001mpe.2_Missense_Mutation_p.Q254K|PTPN5_uc010rdj.1_Missense_Mutation_p.Q230K|PTPN5_uc001mpf.2_Missense_Mutation_p.Q262K|PTPN5_uc010rdk.1_Missense_Mutation_p.Q231K	p.Q286K	NM_006906	NP_008837	P54829	PTN5_HUMAN			8	1287	-			286					B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	c.856C>A	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819521	0.50633	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	5.14	4.16	0.48862	.	0.645577	0.13956	N	0.351189	T	0.16769	0.0403	N	0.08118	0	0.22880	N	0.998616	B;B	0.09022	0.0;0.002	B;B	0.04013	0.0;0.001	T	0.08848	-1.0702	10	0.38643	T	0.18	.	11.1184	0.48275	0.0:0.0:0.6257:0.3743	.	286;254	P54829;B3KXG7	PTN5_HUMAN;.	K	90;286;254;286;254;262	ENSP00000435056:Q90K;ENSP00000351342:Q286K;ENSP00000379473:Q254K;ENSP00000379474:Q286K;ENSP00000379470:Q254K;ENSP00000379471:Q262K	ENSP00000351342:Q286K	Q	-	1	0	PTPN5	18718785	1.000000	0.71417	0.799000	0.32177	0.984000	0.73092	5.340000	0.65958	2.398000	0.81561	0.655000	0.94253	CAA		0.612	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970		4	59	1	0	3.59834e-05	0.001168	4.21623e-05	4	59				
SLC5A12	159963	broad.mit.edu	37	11	26702709	26702709	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:26702709G>T	ENST00000396005.3	-	12	1677	c.1368C>A	c.(1366-1368)gcC>gcA	p.A456A		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	456					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.A456A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GGTAAATGAAGGCCCCAATGG	0.463																																							uc001mra.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1366-1368)GCC>GCA		solute carrier family 5 (sodium/glucose							67.0	66.0	67.0					11																	26702709		1903	4119	6022	SO:0001819	synonymous_variant	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26702709G>T	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1368C>A	11.37:g.26702709G>T						SLC5A12_uc001mrb.2_RNA	p.A456A	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			12	1681	-			456			Helical; (Potential).		Q86UC7	Silent	SNP	ENST00000396005.3	37	c.1368C>A	CCDS7860.2																																																																																				0.463	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		12	31	1	0	3.07112e-06	0.010729	3.81242e-06	12	31				
MPPED2	744	broad.mit.edu	37	11	30433061	30433061	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:30433061G>T	ENST00000358117.5	-	6	961	c.839C>A	c.(838-840)aCc>aAc	p.T280N	MPPED2_ENST00000524667.1_5'UTR|MPPED2_ENST00000448418.2_Intron	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	280					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.T280N(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						TGGAGGGTTGGTCGGTTGAAA	0.468																																							uc001msr.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(838-840)ACC>AAC		metallophosphoesterase domain containing 2							128.0	104.0	112.0					11																	30433061		2202	4299	6501	SO:0001583	missense	744				nervous system development		hydrolase activity|metal ion binding	g.chr11:30433061G>T	U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.839C>A	11.37:g.30433061G>T	ENSP00000350833:p.Thr280Asn					MPPED2_uc001msq.3_Intron|MPPED2_uc009yji.2_Missense_Mutation_p.T154N	p.T280N	NM_001584	NP_001575	Q15777	MPPD2_HUMAN			6	959	-			280					D3DQZ5|E9PB10|Q59GE6	Missense_Mutation	SNP	ENST00000358117.5	37	c.839C>A	CCDS7870.1	.	.	.	.	.	.	.	.	.	.	G	8.614	0.889832	0.17540	.	.	ENSG00000066382	ENST00000358117	T	0.42131	0.98	5.74	5.74	0.90152	.	0.046862	0.85682	D	0.000000	T	0.35128	0.0921	L	0.45581	1.43	0.80722	D	1	B	0.27823	0.19	B	0.22880	0.042	T	0.07139	-1.0788	10	0.22706	T	0.39	-11.6788	13.487	0.61371	0.0714:0.0:0.9286:0.0	.	280	Q15777	MPPD2_HUMAN	N	280	ENSP00000350833:T280N	ENSP00000350833:T280N	T	-	2	0	MPPED2	30389637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.766000	0.74970	2.873000	0.98535	0.561000	0.74099	ACC		0.468	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584		12	40	1	0	9.31168e-06	0.001855	1.13435e-05	12	40				
ELP4	26610	broad.mit.edu	37	11	31531341	31531341	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:31531341G>C	ENST00000350638.5	+	1	45	c.10G>C	c.(10-12)Gtg>Ctg	p.V4L	IMMP1L_ENST00000526776.1_5'Flank|ELP4_ENST00000395934.2_Missense_Mutation_p.V4L|ELP4_ENST00000379163.5_Missense_Mutation_p.V4L|IMMP1L_ENST00000278200.1_5'Flank|IMMP1L_ENST00000532287.1_5'Flank|IMMP1L_ENST00000533642.1_5'Flank|IMMP1L_ENST00000534812.1_5'Flank|IMMP1L_ENST00000528161.1_5'Flank	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	4					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)	p.V4L(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GATGGCGGCAGTGGCAACCTG	0.592																																							uc001mtb.2		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|prostate(1)	3						c.(10-12)GTG>CTG		elongation protein 4 homolog							35.0	40.0	39.0					11																	31531341		2088	4231	6319	SO:0001583	missense	26610				histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding	g.chr11:31531341G>C	AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.10G>C	11.37:g.31531341G>C	ENSP00000298937:p.Val4Leu					IMMP1L_uc001msy.1_5'Flank|IMMP1L_uc001msz.1_5'Flank|ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Missense_Mutation_p.V4L|ELP4_uc010rdz.1_Missense_Mutation_p.V4L|IMMP1L_uc009yjo.2_5'Flank|IMMP1L_uc009yjp.2_5'Flank	p.V4L	NM_019040	NP_061913	Q96EB1	ELP4_HUMAN			1	45	+	Lung SC(675;0.225)		4					B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Missense_Mutation	SNP	ENST00000350638.5	37	c.10G>C	CCDS7875.2	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404949	0.42613	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	T;T;T	0.46451	0.95;0.87;1.44	5.32	2.27	0.28462	.	2.328620	0.01882	N	0.037912	T	0.34048	0.0884	L	0.36672	1.1	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.12400	-1.0549	10	0.26408	T	0.33	-0.9471	5.4297	0.16446	0.174:0.0:0.6649:0.161	.	4;4;4	B4E3W0;G5E9D4;Q96EB1	.;.;ELP4_HUMAN	L	4	ENSP00000298937:V4L;ENSP00000368461:V4L;ENSP00000379267:V4L	ENSP00000298937:V4L	V	+	1	0	ELP4	31487917	0.059000	0.20769	0.164000	0.22755	0.042000	0.13812	0.164000	0.16542	0.747000	0.32809	0.555000	0.69702	GTG		0.592	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286640.1	NM_019040		3	54	0	0	0	0.004672	0	3	54				
PAMR1	25891	broad.mit.edu	37	11	35454105	35454105	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:35454105G>T	ENST00000378880.2	-	11	2407	c.1962C>A	c.(1960-1962)ccC>ccA	p.P654P	PAMR1_ENST00000278360.3_Silent_p.P671P|PAMR1_ENST00000378878.3_Silent_p.P543P|PAMR1_ENST00000532848.1_Silent_p.P614P	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	654	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.P671P(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AAGGGGCAGTGGGTTCCCAGC	0.587																																							uc001mwg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1960-1962)CCC>CCA		regeneration associated muscle protease isoform							82.0	70.0	74.0					11																	35454105		2202	4298	6500	SO:0001819	synonymous_variant	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35454105G>T		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.1962C>A	11.37:g.35454105G>T						PAMR1_uc001mwf.2_Silent_p.P671P|PAMR1_uc010rew.1_Silent_p.P543P|PAMR1_uc010rex.1_Silent_p.P614P	p.P654P	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN			11	2005	-			654			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Silent	SNP	ENST00000378880.2	37	c.1962C>A	CCDS31460.1																																																																																				0.587	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430		8	36	1	0	0.00307968	0.00308	0.00330101	8	36				
ACCS	84680	broad.mit.edu	37	11	44105128	44105128	+	Splice_Site	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:44105128G>T	ENST00000263776.8	+	14	1842		c.e14+1			NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)						biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.?(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CTTTGCCTGGGTGAGCAGCCT	0.587																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	Esophageal Squamous(158;148 1889 8077 23160 41213)	uc009yks.1		NA																	1	Unknown(1)		lung(1)	breast(2)|ovary(1)|lung(1)	4						c.e14+1		1-aminocyclopropane-1-carboxylate synthase							81.0	74.0	76.0					11																	44105128		2203	4300	6503	SO:0001630	splice_region_variant	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44105128G>T	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.1408+1G>T	11.37:g.44105128G>T						EXT2_uc010rfo.1_Intron|ACCS_uc001mxx.2_Splice_Site_p.G470_splice	p.G470_splice	NM_001127219	NP_001120691	Q96QU6	1A1L1_HUMAN			14	1552	+								B4E219|Q8WUL4|Q96LX5	Splice_Site	SNP	ENST00000263776.8	37	c.1408_splice	CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458062	0.84317	.	.	ENSG00000110455	ENST00000263776	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8936	0.96942	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACCS	44061704	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	8.999000	0.93557	2.793000	0.96121	0.655000	0.94253	.		0.587	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592	Intron	6	68	1	0	3.59834e-05	0.001168	4.21623e-05	6	68				
TP53I11	9537	broad.mit.edu	37	11	44959781	44959781	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:44959781C>A	ENST00000533940.1	-	5	710	c.106G>T	c.(106-108)Gac>Tac	p.D36Y	TP53I11_ENST00000395648.3_Missense_Mutation_p.D36Y|TP53I11_ENST00000531130.2_5'UTR|TP53I11_ENST00000308212.5_Missense_Mutation_p.D36Y|TP53I11_ENST00000525680.1_Missense_Mutation_p.D36Y|TP53I11_ENST00000531928.2_Missense_Mutation_p.D36Y	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	36					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)		p.D36Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						ACCTCCCCGTCGTCATCCTCC	0.677																																							uc001myi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(106-108)GAC>TAC		p53-induced protein							40.0	38.0	39.0					11																	44959781		2203	4299	6502	SO:0001583	missense	9537				negative regulation of cell proliferation|response to stress	integral to membrane		g.chr11:44959781C>A	AF010315	CCDS7911.1	11p11.2	2005-09-22				ENSG00000175274			16842	protein-coding gene	gene with protein product						9305847	Standard	NM_006034		Approved	PIG11	uc001myk.3	O14683		ENST00000533940.1:c.106G>T	11.37:g.44959781C>A	ENSP00000436152:p.Asp36Tyr					TP53I11_uc001myf.1_RNA|TP53I11_uc001myj.2_Missense_Mutation_p.D36Y|TP53I11_uc001myk.2_Missense_Mutation_p.D36Y|TP53I11_uc001myl.2_Missense_Mutation_p.D36Y|TP53I11_uc001mym.2_Silent_p.T2T	p.D36Y	NM_006034	NP_006025	O14683	P5I11_HUMAN			5	711	-			36			Cytoplasmic (Potential).		Q3ZCS0	Missense_Mutation	SNP	ENST00000533940.1	37	c.106G>T	CCDS7911.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929439	0.73327	.	.	ENSG00000175274	ENST00000395648;ENST00000308212;ENST00000533940;ENST00000525680;ENST00000528473;ENST00000528290;ENST00000525683;ENST00000525138;ENST00000533443;ENST00000530035;ENST00000527685;ENST00000533937	.	.	.	5.09	5.09	0.68999	.	0.487705	0.22575	N	0.058290	T	0.79690	0.4489	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.82307	-0.0522	9	0.87932	D	0	.	18.4961	0.90865	0.0:1.0:0.0:0.0	.	36	O14683	P5I11_HUMAN	Y	36;36;36;36;36;36;36;64;36;36;36;36	.	ENSP00000309532:D36Y	D	-	1	0	TP53I11	44916357	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.556000	0.82233	2.354000	0.79902	0.561000	0.74099	GAC		0.677	TP53I11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389909.1	NM_006034		4	14	1	0	1.024e-07	0.000602	1.36533e-07	4	14				
FNBP4	23360	broad.mit.edu	37	11	47746181	47746181	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:47746181C>T	ENST00000263773.5	-	13	2170	c.2158G>A	c.(2158-2160)Gaa>Aaa	p.E720K	Y_RNA_ENST00000363220.1_RNA|snoU13_ENST00000516638.1_RNA	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	720	Pro-rich.					nucleus (GO:0005634)		p.E720K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						ggaggtgattctggaggtgga	0.577																																							uc009ylv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2158-2160)GAA>AAA		formin binding protein 4							58.0	61.0	60.0					11																	47746181		1934	4114	6048	SO:0001583	missense	23360							g.chr11:47746181C>T	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.2158G>A	11.37:g.47746181C>T	ENSP00000263773:p.Glu720Lys					FNBP4_uc001ngi.2_Missense_Mutation_p.E34K|FNBP4_uc001ngj.2_Missense_Mutation_p.E627K|FNBP4_uc001ngl.2_RNA	p.E720K	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN			13	2311	-			720			Pro-rich.		Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	ENST00000263773.5	37	c.2158G>A	CCDS41644.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.221999	0.39300	.	.	ENSG00000109920	ENST00000263773	T	0.11063	2.81	4.97	3.07	0.35406	.	0.336013	0.30085	N	0.010448	T	0.11281	0.0275	L	0.54323	1.7	0.35202	D	0.774355	B	0.09022	0.002	B	0.06405	0.002	T	0.08249	-1.0731	10	0.36615	T	0.2	-10.5819	10.2123	0.43147	0.0:0.7873:0.137:0.0757	.	720	Q8N3X1	FNBP4_HUMAN	K	720	ENSP00000263773:E720K	ENSP00000263773:E720K	E	-	1	0	FNBP4	47702757	1.000000	0.71417	0.352000	0.25734	0.726000	0.41606	6.750000	0.74888	0.604000	0.29930	-0.436000	0.05848	GAA		0.577	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			6	75	0	0	0	0.001168	0	6	75				
OR4A16	81327	broad.mit.edu	37	11	55111056	55111056	+	Missense_Mutation	SNP	C	C	A	rs144905099		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:55111056C>A	ENST00000314721.2	+	1	430	c.380C>A	c.(379-381)cCg>cAg	p.P127Q		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P127Q(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCTCTAAGCCGCTGCACTAT	0.468																																							uc010rie.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(379-381)CCG>CAG		olfactory receptor, family 4, subfamily A,							181.0	166.0	171.0					11																	55111056		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111056C>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.380C>A	11.37:g.55111056C>A	ENSP00000325128:p.Pro127Gln						p.P127Q	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	380	+			127			Cytoplasmic (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.380C>A	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	c	13.46	2.243190	0.39697	.	.	ENSG00000181961	ENST00000314721	T	0.01902	4.57	2.69	1.76	0.24704	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.17959	0.0431	H	0.97732	4.065	0.31136	N	0.707134	D	0.89917	1.0	D	0.77004	0.989	T	0.09574	-1.0668	9	0.87932	D	0	.	7.2227	0.25997	0.0:0.8562:0.0:0.1437	.	127	Q8NH70	O4A16_HUMAN	Q	127	ENSP00000325128:P127Q	ENSP00000325128:P127Q	P	+	2	0	OR4A16	54867632	0.998000	0.40836	0.996000	0.52242	0.205000	0.24178	4.671000	0.61590	0.463000	0.27118	0.423000	0.28283	CCG		0.468	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		24	171	1	0	2.44723e-14	0.004656	3.88284e-14	24	171				
OR5I1	10798	broad.mit.edu	37	11	55703186	55703186	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:55703186G>T	ENST00000301532.3	-	1	690	c.691C>A	c.(691-693)Cgc>Agc	p.R231S		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	231					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R231G(1)|p.R231C(1)|p.R231S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTGAAAGAGCGGATCTTTAAG	0.453																																							uc010ris.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(691-693)CGC>AGC		olfactory receptor, family 5, subfamily I,							51.0	52.0	52.0					11																	55703186		2201	4296	6497	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703186G>T	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.691C>A	11.37:g.55703186G>T	ENSP00000301532:p.Arg231Ser						p.R231S	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	691	-			231			Cytoplasmic (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.691C>A	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	G	6.178	0.401053	0.11696	.	.	ENSG00000167825	ENST00000301532	T	0.37235	1.21	5.16	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.141093	0.33180	N	0.005192	T	0.28101	0.0693	L	0.39085	1.19	0.09310	N	1	P	0.41597	0.756	B	0.38803	0.282	T	0.10965	-1.0607	10	0.42905	T	0.14	.	11.1547	0.48480	0.0:0.0:0.6659:0.3341	.	231	Q13606	OR5I1_HUMAN	S	231	ENSP00000301532:R231S	ENSP00000301532:R231S	R	-	1	0	OR5I1	55459762	0.000000	0.05858	0.175000	0.22980	0.088000	0.18126	0.636000	0.24644	1.275000	0.44379	0.643000	0.83706	CGC		0.453	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		8	12	1	0	0.000274275	0.004482	0.000304945	8	12				
OR6Q1	219952	broad.mit.edu	37	11	57799360	57799360	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:57799360C>G	ENST00000302622.3	+	1	959	c.936C>G	c.(934-936)aaC>aaG	p.N312K	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N312K(1)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TTTCTCTCAACTTTTGGAAGG	0.453																																							uc010rjz.1		NA																	1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(934-936)AAC>AAG		olfactory receptor, family 6, subfamily Q,							43.0	46.0	45.0					11																	57799360		2163	4196	6359	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57799360C>G	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.936C>G	11.37:g.57799360C>G	ENSP00000307734:p.Asn312Lys					OR9Q1_uc001nmj.2_Intron	p.N312K	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN			1	936	+		Breast(21;0.0707)|all_epithelial(135;0.142)	312			Cytoplasmic (Potential).		B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.936C>G	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.319077	0.00018	.	.	ENSG00000172381	ENST00000302622	T	0.34072	1.38	4.29	0.147	0.14838	.	0.574033	0.14382	N	0.323069	T	0.09598	0.0236	N	0.01679	-0.765	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35992	-0.9766	10	0.02654	T	1	.	5.92	0.19076	0.1755:0.2943:0.5302:0.0	.	312	Q8NGQ2	OR6Q1_HUMAN	K	312	ENSP00000307734:N312K	ENSP00000307734:N312K	N	+	3	2	OR6Q1	57555936	0.003000	0.15002	0.005000	0.12908	0.008000	0.06430	0.212000	0.17497	0.108000	0.17862	-0.749000	0.03505	AAC		0.453	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		6	74	0	0	0	0.001168	0	6	74				
OR5B21	219968	broad.mit.edu	37	11	58275424	58275424	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:58275424T>C	ENST00000360374.2	-	1	154	c.155A>G	c.(154-156)cAt>cGt	p.H52R		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H52R(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)				AGTGTGGAGATGGGAGTCTGA	0.498																																							uc010rki.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(154-156)CAT>CGT		olfactory receptor, family 5, subfamily B,							118.0	105.0	109.0					11																	58275424		2201	4295	6496	SO:0001583	missense	219968				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58275424T>C		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.155A>G	11.37:g.58275424T>C	ENSP00000353537:p.His52Arg						p.H52R	NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN			1	155	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	52			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000360374.2	37	c.155A>G	CCDS31552.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.764976	0.00082	.	.	ENSG00000198283	ENST00000360374	T	0.00784	5.7	5.2	-4.39	0.03611	GPCR, rhodopsin-like superfamily (1);	0.644427	0.12771	N	0.440556	T	0.00300	0.0009	N	0.00960	-1.095	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.40136	-0.9579	10	0.02654	T	1	-7.3709	9.4586	0.38769	0.0:0.4761:0.1131:0.4109	.	52	A6NL26	OR5BL_HUMAN	R	52	ENSP00000353537:H52R	ENSP00000353537:H52R	H	-	2	0	OR5B21	58032000	.	.	0.001000	0.08648	0.019000	0.09904	.	.	-0.720000	0.04935	-0.290000	0.09829	CAT		0.498	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218		16	87	0	0	0	0.003163	0	16	87				
OR4D6	219983	broad.mit.edu	37	11	59224956	59224956	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:59224956G>A	ENST00000300127.2	+	1	546	c.523G>A	c.(523-525)Gat>Aat	p.D175N		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D175N(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CAACACACTGGATGCCTTCTA	0.507																																							uc010rku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(523-525)GAT>AAT		olfactory receptor, family 4, subfamily D,							212.0	185.0	194.0					11																	59224956		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59224956G>A	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.523G>A	11.37:g.59224956G>A	ENSP00000300127:p.Asp175Asn						p.D175N	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	523	+			175			Extracellular (Potential).		B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.523G>A	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076905	0.76415	.	.	ENSG00000166884	ENST00000300127	T	0.00107	8.72	6.0	6.0	0.97389	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000037	T	0.00271	0.0008	L	0.45581	1.43	0.33158	D	0.546659	P	0.42337	0.776	P	0.55161	0.77	T	0.69281	-0.5186	10	0.59425	D	0.04	-6.3927	8.8337	0.35100	0.0779:0.1515:0.7706:0.0	.	175	Q8NGJ1	OR4D6_HUMAN	N	175	ENSP00000300127:D175N	ENSP00000300127:D175N	D	+	1	0	OR4D6	58981532	0.061000	0.20836	0.989000	0.46669	0.906000	0.53458	0.941000	0.29005	2.846000	0.97976	0.650000	0.86243	GAT		0.507	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		34	152	0	0	0	0.010818	0	34	152				
MS4A14	84689	broad.mit.edu	37	11	60165337	60165337	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:60165337C>A	ENST00000300187.6	+	2	428	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.L51M|MS4A14_ENST00000531783.1_Missense_Mutation_p.L51M|MS4A14_ENST00000531787.1_Intron	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	51						integral component of membrane (GO:0016021)		p.L51M(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TACCCAGATCCTGCTTGCTCT	0.488																																							uc001npj.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(151-153)CTG>ATG		membrane-spanning 4-domains, subfamily A, member							155.0	126.0	136.0					11																	60165337		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60165337C>A	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.151C>A	11.37:g.60165337C>A	ENSP00000300187:p.Leu51Met					MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_Translation_Start_Site|MS4A14_uc001npk.2_Missense_Mutation_p.L51M|MS4A14_uc001npl.2_Translation_Start_Site|MS4A14_uc001npm.2_Translation_Start_Site	p.L51M	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			2	716	+			51			Helical; (Potential).		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.151C>A	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	14.76	2.630456	0.46944	.	.	ENSG00000166928	ENST00000300187;ENST00000395005;ENST00000526375;ENST00000531783	T;T;T;T	0.55413	4.25;0.52;4.25;4.25	4.67	2.73	0.32206	.	0.136740	0.48286	D	0.000181	T	0.57989	0.2091	L	0.42529	1.33	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.982;0.99	T	0.59075	-0.7522	10	0.87932	D	0	-8.539	4.9591	0.14057	0.2111:0.6826:0.0:0.1062	.	51;51	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	M	51	ENSP00000300187:L51M;ENSP00000378453:L51M;ENSP00000435764:L51M;ENSP00000433761:L51M	ENSP00000300187:L51M	L	+	1	2	MS4A14	59921913	0.981000	0.34729	1.000000	0.80357	0.654000	0.38779	0.350000	0.20079	1.255000	0.44051	0.591000	0.81541	CTG		0.488	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			14	61	1	0	0.000219431	0.00245	0.000247661	14	61				
AHNAK	79026	broad.mit.edu	37	11	62288697	62288697	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:62288697T>A	ENST00000378024.4	-	5	13466	c.13192A>T	c.(13192-13194)Aaa>Taa	p.K4398*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4398					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.K4398*(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTTCACTTTGGGACCCTTC	0.468																																							uc001ntl.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(13192-13194)AAA>TAA		AHNAK nucleoprotein isoform 1							149.0	156.0	154.0					11																	62288697		2202	4299	6501	SO:0001587	stop_gained	79026				nervous system development	nucleus	protein binding	g.chr11:62288697T>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13192A>T	11.37:g.62288697T>A	ENSP00000367263:p.Lys4398*					AHNAK_uc001ntk.1_Intron	p.K4398*	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	13492	-		Melanoma(852;0.155)	4398					A1A586	Nonsense_Mutation	SNP	ENST00000378024.4	37	c.13192A>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	55	24.270332	0.99959	.	.	ENSG00000124942	ENST00000378024	.	.	.	4.69	4.69	0.59074	.	0.128191	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1373	0.65295	0.0:0.0:0.0:1.0	.	.	.	.	X	4398	.	ENSP00000367263:K4398X	K	-	1	0	AHNAK	62045273	1.000000	0.71417	0.996000	0.52242	0.926000	0.56050	4.067000	0.57527	1.865000	0.54081	0.450000	0.29827	AAA		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		42	284	0	0	0	0.009718	0	42	284				
TUT1	64852	broad.mit.edu	37	11	62346149	62346149	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:62346149G>A	ENST00000476907.1	-	5	1735	c.1044C>T	c.(1042-1044)ctC>ctT	p.L348L	TUT1_ENST00000308436.7_Silent_p.L386L|MIR3654_ENST00000496634.2_Silent_p.L348L			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	348					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)	p.L348L(1)|p.L386L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CACAGCCCCGGAGAATGGATC	0.622																																							uc001nto.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(1156-1158)CTC>CTT		terminal uridylyl transferase 1, U6							89.0	90.0	90.0					11																	62346149		2202	4299	6501	SO:0001819	synonymous_variant	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62346149G>A	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.1044C>T	11.37:g.62346149G>A						TUT1_uc001ntp.1_5'Flank	p.L386L	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN			5	1196	-			348					A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Silent	SNP	ENST00000476907.1	37	c.1158C>T																																																																																					0.622	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		9	99	0	0	0	0.004482	0	9	99				
TUT1	64852	broad.mit.edu	37	11	62348608	62348608	+	Silent	SNP	G	G	A	rs376242669		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:62348608G>A	ENST00000476907.1	-	4	1351	c.660C>T	c.(658-660)ttC>ttT	p.F220F	TUT1_ENST00000308436.7_Silent_p.F258F|MIR3654_ENST00000496634.2_Silent_p.F220F			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	220					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)	p.F220F(1)|p.F258F(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCAGATCCAAGAAGAGGTCAA	0.542																																							uc001nto.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)|skin(1)	2						c.(772-774)TTC>TTT		terminal uridylyl transferase 1, U6							131.0	121.0	125.0					11																	62348608		2202	4299	6501	SO:0001819	synonymous_variant	64852				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding	g.chr11:62348608G>A	BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.660C>T	11.37:g.62348608G>A							p.F258F	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN			4	812	-			220					A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Silent	SNP	ENST00000476907.1	37	c.774C>T																																																																																					0.542	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000351319.2	NM_022830		5	120	0	0	0	0.000602	0	5	120				
ZBTB3	79842	broad.mit.edu	37	11	62519813	62519813	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:62519813T>C	ENST00000394807.3	-	2	1599	c.1474A>G	c.(1474-1476)Acg>Gcg	p.T492A		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T492A(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GTGTGCACCGTGGCATGTCGC	0.567																																							uc001nuz.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(1474-1476)ACG>GCG		zinc finger and BTB domain containing 3							87.0	77.0	80.0					11																	62519813		2202	4299	6501	SO:0001583	missense	79842				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:62519813T>C	AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1474A>G	11.37:g.62519813T>C	ENSP00000378286:p.Thr492Ala						p.T492A	NM_024784	NP_079060	Q9H5J0	ZBTB3_HUMAN			2	1596	-			492			C2H2-type 1.			Missense_Mutation	SNP	ENST00000394807.3	37	c.1474A>G	CCDS8034.1	.	.	.	.	.	.	.	.	.	.	T	16.04	3.009521	0.54361	.	.	ENSG00000185670	ENST00000394807	T	0.16324	2.35	4.61	4.61	0.57282	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.054430	0.64402	D	0.000001	T	0.17152	0.0412	N	0.05414	-0.055	0.25541	N	0.987175	D	0.56746	0.977	P	0.57152	0.814	T	0.06807	-1.0806	10	0.62326	D	0.03	.	11.9849	0.53142	0.0:0.0:0.0:1.0	.	492	Q9H5J0	ZBTB3_HUMAN	A	492	ENSP00000378286:T492A	ENSP00000378286:T492A	T	-	1	0	ZBTB3	62276389	0.998000	0.40836	0.996000	0.52242	0.955000	0.61496	1.453000	0.35167	1.724000	0.51502	0.459000	0.35465	ACG		0.567	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395342.1	NM_024784		7	50	0	0	0	0.00308	0	7	50				
WDR74	54663	broad.mit.edu	37	11	62603205	62603205	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:62603205G>C	ENST00000525239.1	-	6	1015	c.478C>G	c.(478-480)Ctg>Gtg	p.L160V	WDR74_ENST00000529106.1_Missense_Mutation_p.L160V|WDR74_ENST00000278856.4_Missense_Mutation_p.L160V|WDR74_ENST00000525752.1_Missense_Mutation_p.L103V|WDR74_ENST00000311713.7_Missense_Mutation_p.L160V|RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000540620.1_5'UTR|RP11-727F15.9_ENST00000535867.1_RNA			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	160					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L160V(2)		kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						GAGCCCTGCAGGTCCCATATC	0.572																																							uc001nvm.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(478-480)CTG>GTG		WD repeat domain 74							57.0	59.0	58.0					11																	62603205		1980	4155	6135	SO:0001583	missense	54663					nucleolus		g.chr11:62603205G>C		CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"""WD repeat domain containing"""	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.478C>G	11.37:g.62603205G>C	ENSP00000432119:p.Leu160Val					WDR74_uc001nvk.1_Missense_Mutation_p.L103V|WDR74_uc001nvl.1_Missense_Mutation_p.L160V|WDR74_uc001nvn.1_Missense_Mutation_p.L212V|WDR74_uc009yoi.1_Missense_Mutation_p.L160V|WDR74_uc010rmk.1_Missense_Mutation_p.L160V	p.L160V	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN			6	646	-			160			WD 3.		A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Missense_Mutation	SNP	ENST00000525239.1	37	c.478C>G	CCDS44630.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210805	0.79240	.	.	ENSG00000133316	ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	5.68	4.76	0.60689	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.50326	0.1609	L	0.60455	1.87	0.58432	D	0.999993	D;D;D;D	0.71674	0.998;0.997;0.997;0.998	D;P;P;D	0.67548	0.937;0.863;0.863;0.952	T	0.44128	-0.9348	10	0.45353	T	0.12	-11.042	9.2754	0.37696	0.1637:0.0:0.8363:0.0	.	160;103;160;160	B4E018;E9PS41;Q6RFH5;Q6RFH5-2	.;.;WDR74_HUMAN;.	V	160;160;160;160;103	ENSP00000308931:L160V;ENSP00000435726:L160V;ENSP00000432119:L160V;ENSP00000278856:L160V;ENSP00000432113:L103V	ENSP00000278856:L160V	L	-	1	2	WDR74	62359781	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.318000	0.59190	2.672000	0.90937	0.651000	0.88453	CTG		0.572	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093		3	29	0	0	0	0.004672	0	3	29				
WDR74	54663	broad.mit.edu	37	11	62606600	62606600	+	Silent	SNP	G	G	A	rs377645483		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:62606600G>A	ENST00000525239.1	-	4	816	c.279C>T	c.(277-279)ctC>ctT	p.L93L	WDR74_ENST00000529106.1_Silent_p.L93L|RNU2-2P_ENST00000410396.1_RNA|WDR74_ENST00000278856.4_Silent_p.L93L|WDR74_ENST00000525752.1_Silent_p.L36L|WDR74_ENST00000311713.7_Silent_p.L93L|WDR74_ENST00000540620.1_5'UTR			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	93					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L93L(2)		kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						CGGCCTGGGCGAGGCCACGGA	0.622																																							uc001nvm.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(277-279)CTC>CTT		WD repeat domain 74		G		1,4047		0,1,2023	44.0	49.0	47.0		279	0.1	1.0	11		47	0,8352		0,0,4176	no	coding-synonymous	WDR74	NM_018093.2		0,1,6199	AA,AG,GG		0.0,0.0247,0.0081		93/386	62606600	1,12399	2024	4176	6200	SO:0001819	synonymous_variant	54663					nucleolus		g.chr11:62606600G>A		CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"""WD repeat domain containing"""	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.279C>T	11.37:g.62606600G>A						WDR74_uc001nvk.1_Silent_p.L36L|WDR74_uc001nvl.1_Silent_p.L93L|WDR74_uc001nvn.1_Silent_p.L145L|WDR74_uc009yoi.1_Silent_p.L93L|WDR74_uc010rmk.1_Silent_p.L93L	p.L93L	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN			4	447	-			93			WD 2.		A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Silent	SNP	ENST00000525239.1	37	c.279C>T	CCDS44630.1	.	.	.	.	.	.	.	.	.	.	G	3.564	-0.089002	0.07097	2.47E-4	0.0	ENSG00000133316	ENST00000535048	.	.	.	4.7	0.11	0.14611	.	.	.	.	.	T	0.44030	0.1274	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28299	-1.0048	4	.	.	.	-11.6171	3.5603	0.07880	0.4323:0.1971:0.3706:0.0	.	.	.	.	C	85	.	.	R	-	1	0	WDR74	62363176	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	0.846000	0.27682	0.418000	0.25898	-0.136000	0.14681	CGC		0.622	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093		4	60	0	0	0	0.000602	0	4	60				
TSGA10IP	254187	broad.mit.edu	37	11	65721189	65721189	+	RNA	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:65721189C>G	ENST00000532620.1	+	0	1534				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.R405G(1)		endometrium(2)|kidney(3)|lung(9)	14						GGCGGCCCAGCGCAAGCTGGA	0.711																																							uc001ogk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1303-1305)CGC>GGC		testis specific, 10 interacting protein							9.0	12.0	11.0					11																	65721189		1749	3805	5554			254187							g.chr11:65721189C>G	AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65721189C>G						TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_RNA	p.R435G	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN			7	1335	+			435			Potential.		Q3SXZ9|Q3SY01|Q96M26	Missense_Mutation	SNP	ENST00000532620.1	37	c.1303C>G																																																																																					0.711	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762		7	24	0	0	0	0.00308	0	7	24				
B3GNT1	11041	broad.mit.edu	37	11	66114003	66114003	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:66114003G>A	ENST00000311181.4	-	1	1160	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	RP11-867G23.8_ENST00000531602.1_5'Flank|BRMS1_ENST00000359957.3_5'Flank|BRMS1_ENST00000425825.2_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	338					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)	p.F338F(1)		breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						AGCGCTCGTCGAAGGTGGGCA	0.632																																							uc001ohr.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1012-1014)TTC>TTT		UDP-GlcNAc:betaGal							75.0	80.0	78.0					11																	66114003		2200	4292	6492	SO:0001819	synonymous_variant	11041				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	g.chr11:66114003G>A	AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"""Beta 3-glycosyltransferases"""	15685	protein-coding gene	gene with protein product	"""N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"""	605517	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"""	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.1014C>T	11.37:g.66114003G>A						BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank	p.F338F	NM_006876	NP_006867	O43505	B3GN1_HUMAN			1	1159	-			338			Lumenal (Potential).		Q4TTN0	Silent	SNP	ENST00000311181.4	37	c.1014C>T	CCDS8136.1																																																																																				0.632	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1	NM_006876		5	84	0	0	0	0.000602	0	5	84				
PELI3	246330	broad.mit.edu	37	11	66235598	66235598	+	Splice_Site	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:66235598G>A	ENST00000320740.7	+	2	159		c.e2-1		PELI3_ENST00000349459.6_Splice_Site|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000524466.1_Splice_Site|MRPL11_ENST00000524576.1_5'Flank	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3						defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						ACTCTGCCCAGAATGGTGCTG	0.617																																							uc001oic.3		NA																	0				ovary(1)	1						c.e2-1		pellino 3 alpha isoform 1							47.0	52.0	50.0					11																	66235598		2200	4295	6495	SO:0001630	splice_region_variant	246330					cytosol	protein binding	g.chr11:66235598G>A	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.-1-1G>A	11.37:g.66235598G>A						PELI3_uc001oib.2_Splice_Site|PELI3_uc001oid.3_Splice_Site|PELI3_uc001oie.3_Splice_Site		NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN			2	164	+								Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Splice_Site	SNP	ENST00000320740.7	37	c.0_splice	CCDS31615.1																																																																																				0.617	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	NM_145065	Intron	3	41	0	0	0	0.004672	0	3	41				
SHANK2	22941	broad.mit.edu	37	11	70319477	70319477	+	Missense_Mutation	SNP	C	C	A	rs538778523		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:70319477C>A	ENST00000423696.2	-	16	3946	c.3910G>T	c.(3910-3912)Ggc>Tgc	p.G1304C	SHANK2_ENST00000449833.2_Missense_Mutation_p.G1088C|SHANK2_ENST00000409161.1_Missense_Mutation_p.G1087C|SHANK2_ENST00000338508.4_Missense_Mutation_p.G1684C			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1304					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.G1684C(1)|p.G1088C(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGGGAGGTGCCGGGGCGAACA	0.592																																							uc001oqc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(5047-5049)GGC>TGC		SH3 and multiple ankyrin repeat domains 2							58.0	55.0	56.0					11																	70319477		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319477C>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3910G>T	11.37:g.70319477C>A	ENSP00000394536:p.Gly1304Cys					SHANK2_uc010rqn.1_Missense_Mutation_p.G1095C|SHANK2_uc001opz.2_Missense_Mutation_p.G1088C|uc009ysn.1_Intron|SHANK2_uc001opy.2_Missense_Mutation_p.G19C	p.G1683C	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		22	5125	-			1304					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.5047G>T		.	.	.	.	.	.	.	.	.	.	C	21.5	4.158861	0.78226	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.50813	2.07;2.12;2.8;0.73;2.19;2.2	5.91	5.91	0.95273	.	0.215200	0.48767	D	0.000177	T	0.68220	0.2977	L	0.59436	1.845	0.80722	D	1	P;D;D	0.89917	0.882;1.0;1.0	P;D;D	0.97110	0.48;1.0;0.991	T	0.67860	-0.5561	10	0.72032	D	0.01	.	20.3018	0.98617	0.0:1.0:0.0:0.0	.	1304;1683;1088	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	C	1088;1087;962;1684;1304;1322;1307	ENSP00000399423:G1088C;ENSP00000386491:G1087C;ENSP00000402944:G962C;ENSP00000345193:G1684C;ENSP00000394536:G1304C;ENSP00000294018:G1307C	ENSP00000294018:G1307C	G	-	1	0	SHANK2	69997125	0.995000	0.38212	0.975000	0.42487	0.964000	0.63967	3.822000	0.55708	2.799000	0.96334	0.650000	0.86243	GGC		0.592	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		5	55	1	0	8.12818e-05	0.001984	9.32508e-05	5	55				
SHANK2	22941	broad.mit.edu	37	11	70507709	70507709	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:70507709C>A	ENST00000423696.2	-	6	827	c.791G>T	c.(790-792)gGg>gTg	p.G264V	SHANK2_ENST00000449833.2_Missense_Mutation_p.G55V|SHANK2_ENST00000409530.1_Missense_Mutation_p.G54V|SHANK2_ENST00000409161.1_Missense_Mutation_p.G54V|SHANK2_ENST00000449116.2_Missense_Mutation_p.G55V|SHANK2_ENST00000338508.4_Missense_Mutation_p.G644V|SHANK2_ENST00000357171.3_Missense_Mutation_p.G55V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	264	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.G55V(2)|p.G644V(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACCTTTGGCCCCTCGAAGCAC	0.507																																							uc001oqc.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1927-1929)GGG>GTG		SH3 and multiple ankyrin repeat domains 2							157.0	136.0	143.0					11																	70507709		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70507709C>A	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.791G>T	11.37:g.70507709C>A	ENSP00000394536:p.Gly264Val					SHANK2_uc010rqn.1_Missense_Mutation_p.G55V|SHANK2_uc001opz.2_Missense_Mutation_p.G55V|uc009ysn.1_Intron|SHANK2_uc010rqp.1_Missense_Mutation_p.G55V	p.G643V	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		13	2006	-			264			PDZ.		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.1928G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	24.2|24.2|24.2	4.508483|4.508483|4.508483	0.85282|0.85282|0.85282	.|.|.	.|.|.	ENSG00000162105|ENSG00000162105|ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018;ENST00000409530;ENST00000449116;ENST00000357171|ENST00000426687|ENST00000412252	T;T;T;T;T;T;T;T|T|T	0.32023|0.34072|0.25579	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47|1.38|1.79	4.76|4.76|4.76	4.76|4.76|4.76	0.60689|0.60689|0.60689	PDZ/DHR/GLGF (4);|.|.	0.121472|0.121472|.	0.56097|0.56097|.	D|D|.	0.000038|0.000038|.	T|T|T	0.58652|0.58652|0.58652	0.2137|0.2137|0.2137	M|M|M	0.89601|0.89601|0.89601	3.045|3.045|3.045	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0|.|.	D;D;D;D|.|.	0.97110|.|.	1.0;0.999;1.0;0.999|.|.	T|T|T	0.70364|0.70364|0.70364	-0.4892|-0.4892|-0.4892	10|8|7	0.87932|0.87932|0.87932	D|D|D	0|0|0	.|.|.	17.7826|17.7826|17.7826	0.88528|0.88528|0.88528	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	55;264;643;55|.|.	B7ZKU9;Q9UPX8;Q9UPX8-3;Q9UPX8-4|.|.	.;SHAN2_HUMAN;.;.|.|.	V|W|S	55;54;644;264;278;274;54;55;55|53|53	ENSP00000399423:G55V;ENSP00000386491:G54V;ENSP00000345193:G644V;ENSP00000394536:G264V;ENSP00000294018:G274V;ENSP00000387324:G54V;ENSP00000394939:G55V;ENSP00000349694:G55V|ENSP00000391570:G53W|ENSP00000414876:R53S	ENSP00000294018:G274V|ENSP00000391570:G53W|ENSP00000414876:R53S	G|G|R	-|-|-	2|1|3	0|0|2	SHANK2|SHANK2|SHANK2	70185357|70185357|70185357	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.967000|0.967000|0.967000	0.64934|0.64934|0.64934	7.049000|7.049000|7.049000	0.76613|0.76613|0.76613	2.189000|2.189000|2.189000	0.69895|0.69895|0.69895	0.491000|0.491000|0.491000	0.48974|0.48974|0.48974	GGG|GGG|AGG		0.507	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		33	163	1	0	0.000109025	0.003755	0.000124532	33	163				
PAAF1	80227	broad.mit.edu	37	11	73620586	73620586	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:73620586G>T	ENST00000310571.3	+	7	728	c.675G>T	c.(673-675)gcG>gcT	p.A225A	PAAF1_ENST00000541951.1_Silent_p.A110A|PAAF1_ENST00000535604.1_Silent_p.A110A|PAAF1_ENST00000376384.5_Silent_p.A208A|PAAF1_ENST00000536003.1_Silent_p.A208A|PAAF1_ENST00000544909.1_Silent_p.A226A|PAAF1_ENST00000544552.1_Silent_p.A208A	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	225					viral process (GO:0016032)	proteasome complex (GO:0000502)		p.A225A(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					ATGGAGTGGCGGTGGGTGCTG	0.502																																							uc001ouk.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(673-675)GCG>GCT		proteasomal ATPase-associated factor 1							160.0	140.0	147.0					11																	73620586		2200	4293	6493	SO:0001819	synonymous_variant	80227				interspecies interaction between organisms	proteasome complex	protein binding	g.chr11:73620586G>T	BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.675G>T	11.37:g.73620586G>T						PAAF1_uc001oul.1_Silent_p.A208A|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Silent_p.A208A	p.A225A	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN			7	709	+	Breast(11;7.42e-05)		225					A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Silent	SNP	ENST00000310571.3	37	c.675G>T	CCDS8226.1	.	.	.	.	.	.	.	.	.	.	G	2.531	-0.308480	0.05458	.	.	ENSG00000175575	ENST00000540659	.	.	.	5.06	-0.333	0.12671	.	.	.	.	.	T	0.42653	0.1212	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22243	-1.0222	4	.	.	.	-9.8699	2.8143	0.05451	0.1586:0.0911:0.1341:0.6162	.	.	.	.	C	66	.	.	G	+	1	0	PAAF1	73298234	0.993000	0.37304	0.998000	0.56505	0.138000	0.21146	0.053000	0.14184	-0.086000	0.12550	0.561000	0.74099	GGT		0.502	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1	NM_025155		5	85	1	0	3.59834e-05	0.001168	4.21623e-05	5	85				
PGM2L1	283209	broad.mit.edu	37	11	74053997	74053997	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:74053997C>T	ENST00000298198.4	-	11	1686	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	459					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)	p.E459K(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					GATGCCATCTCAGCAACCACA	0.378																																							uc001ovb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1375-1377)GAG>AAG		phosphoglucomutase 2-like 1							130.0	134.0	133.0					11																	74053997		2200	4293	6493	SO:0001583	missense	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74053997C>T	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1375G>A	11.37:g.74053997C>T	ENSP00000298198:p.Glu459Lys						p.E459K	NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN			11	1671	-	Breast(11;3.32e-06)		459					Q96MQ7|Q9UIK3	Missense_Mutation	SNP	ENST00000298198.4	37	c.1375G>A	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	C	33	5.291145	0.95546	.	.	ENSG00000165434	ENST00000298198	T	0.67523	-0.27	5.39	5.39	0.77823	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.000000	0.85682	D	0.000000	D	0.84343	0.5451	M	0.88640	2.97	0.80722	D	1	D	0.55605	0.972	D	0.70227	0.968	D	0.86607	0.1870	10	0.72032	D	0.01	-21.7605	16.6913	0.85322	0.0:1.0:0.0:0.0	.	459	Q6PCE3	PGM2L_HUMAN	K	459	ENSP00000298198:E459K	ENSP00000298198:E459K	E	-	1	0	PGM2L1	73731645	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.590000	0.82653	2.795000	0.96236	0.655000	0.94253	GAG		0.378	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		13	148	0	0	0	0.00245	0	13	148				
C11orf30	56946	broad.mit.edu	37	11	76248926	76248926	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:76248926G>C	ENST00000529032.1	+	15	2447	c.2447G>C	c.(2446-2448)aGa>aCa	p.R816T	C11orf30_ENST00000533248.1_Intron|C11orf30_ENST00000525038.1_Missense_Mutation_p.R831T|C11orf30_ENST00000525919.1_Missense_Mutation_p.R817T|C11orf30_ENST00000343878.3_Missense_Mutation_p.R816T|C11orf30_ENST00000524490.1_Missense_Mutation_p.R732T|C11orf30_ENST00000524767.1_Missense_Mutation_p.R831T|C11orf30_ENST00000334736.3_Missense_Mutation_p.R816T			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	816					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R816T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CAGGAAAAGAGACATTCTCCT	0.398																																							uc001oxl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(2446-2448)AGA>ACA		EMSY protein							118.0	113.0	115.0					11																	76248926		2200	4292	6492	SO:0001583	missense	56946				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr11:76248926G>C	AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.2447G>C	11.37:g.76248926G>C	ENSP00000432327:p.Arg816Thr					C11orf30_uc001oxm.2_Missense_Mutation_p.R732T|C11orf30_uc010rsb.1_Missense_Mutation_p.R831T|C11orf30_uc010rsc.1_Missense_Mutation_p.R831T|C11orf30_uc001oxn.2_Missense_Mutation_p.R817T|C11orf30_uc010rsd.1_Intron|C11orf30_uc001oxo.1_Missense_Mutation_p.R184T|C11orf30_uc010rse.1_Intron	p.R816T	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN			16	2590	+			816					B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	c.2447G>C	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705481	0.68615	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000343878;ENST00000524767;ENST00000525919;ENST00000525038;ENST00000529032	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	6.17	5.26	0.73747	.	0.091594	0.64402	D	0.000001	T	0.35364	0.0929	L	0.27053	0.805	0.43399	D	0.995521	B;B;P;D;B;D	0.53151	0.319;0.319;0.59;0.958;0.319;0.958	B;B;B;B;B;B	0.42692	0.111;0.111;0.223;0.395;0.111;0.395	T	0.11275	-1.0594	10	0.10377	T	0.69	-1.9492	15.7894	0.78343	0.065:0.0:0.935:0.0	.	831;831;184;817;732;816	B7ZKU2;B7ZKU0;B3KWW8;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	T	732;816;816;831;817;831;816	ENSP00000334130:R816T;ENSP00000344688:R816T;ENSP00000433205:R831T;ENSP00000432010:R817T;ENSP00000432327:R816T	ENSP00000334130:R816T	R	+	2	0	C11orf30	75926574	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.645000	0.67909	1.626000	0.50381	0.655000	0.94253	AGA		0.398	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2	NM_020193		3	54	0	0	0	0.004672	0	3	54				
LRRC32	2615	broad.mit.edu	37	11	76372213	76372213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:76372213C>A	ENST00000407242.2	-	3	666	c.424G>T	c.(424-426)Gag>Tag	p.E142*	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Nonsense_Mutation_p.E142*|LRRC32_ENST00000260061.5_Nonsense_Mutation_p.E142*|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	142					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)		p.E142*(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGCAGCCGCTCCAGCAGGCCG	0.687																																							uc001oxq.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(424-426)GAG>TAG		leucine rich repeat containing 32 precursor							31.0	38.0	36.0					11																	76372213		2200	4291	6491	SO:0001587	stop_gained	2615					integral to plasma membrane		g.chr11:76372213C>A	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.424G>T	11.37:g.76372213C>A	ENSP00000384126:p.Glu142*					LRRC32_uc001oxr.3_Nonsense_Mutation_p.E142*|LRRC32_uc010rsf.1_Nonsense_Mutation_p.E142*	p.E142*	NM_005512	NP_005503	Q14392	LRC32_HUMAN			3	667	-			142			Extracellular (Potential).|LRR 4.		Q86V06	Nonsense_Mutation	SNP	ENST00000407242.2	37	c.424G>T	CCDS8245.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740932	0.89573	.	.	ENSG00000137507	ENST00000260061;ENST00000407242;ENST00000404995;ENST00000421973	.	.	.	4.74	4.74	0.60224	.	0.110564	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	17.9243	0.88977	0.0:1.0:0.0:0.0	.	.	.	.	X	142	.	ENSP00000260061:E142X	E	-	1	0	LRRC32	76049861	1.000000	0.71417	0.989000	0.46669	0.685000	0.39939	5.692000	0.68256	2.478000	0.83669	0.561000	0.74099	GAG		0.687	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		8	31	1	0	0.000442599	0.006214	0.000490004	8	31				
TENM4	26011	broad.mit.edu	37	11	78412999	78412999	+	Silent	SNP	G	G	T	rs200575170	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:78412999G>T	ENST00000278550.7	-	28	5121	c.4659C>A	c.(4657-4659)gcC>gcA	p.A1553A		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1553					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)	p.A1553A(2)									TCCCAAGGTCGGCCACGTAGA	0.483																																							uc001ozl.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(2)	4						c.(4657-4659)GCC>GCA		odz, odd Oz/ten-m homolog 4							84.0	92.0	90.0					11																	78412999		2137	4245	6382	SO:0001819	synonymous_variant	26011				signal transduction	integral to membrane		g.chr11:78412999G>T	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.4659C>A	11.37:g.78412999G>T						ODZ4_uc009yvb.1_Silent_p.A137A	p.A1553A	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			28	5122	-			1553			NHL 5.|Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	c.4659C>A	CCDS44688.1																																																																																				0.483	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			9	56	1	0	1.12685e-05	0.004482	1.36319e-05	9	56				
PRCP	5547	broad.mit.edu	37	11	82571045	82571045	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:82571045C>A	ENST00000313010.3	-	2	477	c.283G>T	c.(283-285)Gac>Tac	p.D95Y	PRCP_ENST00000393399.2_Missense_Mutation_p.D116Y|PRCP_ENST00000535099.1_Intron	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	95					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)	p.D95Y(1)|p.D116Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CAGATAATGTCCCCTTCATTA	0.328																																							uc001ozs.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(283-285)GAC>TAC		prolylcarboxypeptidase isoform 1 preproprotein							99.0	91.0	94.0					11																	82571045		2203	4297	6500	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82571045C>A	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.283G>T	11.37:g.82571045C>A	ENSP00000317362:p.Asp95Tyr					PRCP_uc001ozr.2_Missense_Mutation_p.D116Y	p.D95Y	NM_005040	NP_005031	P42785	PCP_HUMAN			2	396	-			95					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.283G>T	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596703	0.86953	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000529671;ENST00000532809	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.47728	0.1461	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	0.98;1.0	P;D	0.79108	0.858;0.992	T	0.55679	-0.8103	9	.	.	.	-21.9373	19.4057	0.94647	0.0:1.0:0.0:0.0	.	95;116	P42785;A8MU24	PCP_HUMAN;.	Y	95;116;54;41	ENSP00000317362:D95Y;ENSP00000377055:D116Y;ENSP00000434771:D54Y;ENSP00000437169:D41Y	.	D	-	1	0	PRCP	82248693	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.486000	0.81215	2.604000	0.88044	0.491000	0.48974	GAC		0.328	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		6	41	1	0	0.00198382	0.001984	0.00214179	6	41				
PCF11	51585	broad.mit.edu	37	11	82880813	82880813	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:82880813C>G	ENST00000298281.4	+	8	3888	c.3436C>G	c.(3436-3438)Cca>Gca	p.P1146A		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1146					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.P1146A(1)|p.P1245A(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TTTTAATGCCCCATCCCAAGG	0.413																																							uc001ozx.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3436-3438)CCA>GCA		pre-mRNA cleavage complex II protein Pcf11							73.0	66.0	68.0					11																	82880813		1895	4126	6021	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82880813C>G	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.3436C>G	11.37:g.82880813C>G	ENSP00000298281:p.Pro1146Ala					PCF11_uc010rsu.1_Missense_Mutation_p.P1277A	p.P1146A	NM_015885	NP_056969	O94913	PCF11_HUMAN			8	3781	+			1146					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.3436C>G	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.529100	0.64860	.	.	ENSG00000165494	ENST00000298281	T	0.26957	1.7	6.06	5.15	0.70609	.	0.000000	0.64402	D	0.000015	T	0.27832	0.0685	L	0.29908	0.895	0.49798	D	0.999824	P	0.51057	0.941	P	0.49332	0.607	T	0.01688	-1.1295	9	.	.	.	-10.6165	15.5895	0.76517	0.0:0.9342:0.0:0.0658	.	1146	O94913	PCF11_HUMAN	A	1146	ENSP00000298281:P1146A	.	P	+	1	0	PCF11	82558461	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	2.901000	0.48695	1.582000	0.49881	-0.137000	0.14449	CCA		0.413	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		10	38	0	0	0	0.006214	0	10	38				
TRIM49	57093	broad.mit.edu	37	11	89537597	89537597	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:89537597A>T	ENST00000329758.1	-	3	369	c.41T>A	c.(40-42)aTc>aAc	p.I14N	TRIM49_ENST00000532501.2_Missense_Mutation_p.I14N	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	14						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CAGGGGGCAGATGAGTTCCCC	0.473																																							uc001pdb.2		NA																	0					0						c.(40-42)ATC>AAC		ring finger protein 18							16.0	17.0	17.0					11																	89537597		2173	4266	6439	SO:0001583	missense	57093					intracellular	zinc ion binding	g.chr11:89537597A>T	AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.41T>A	11.37:g.89537597A>T	ENSP00000327604:p.Ile14Asn						p.I14N	NM_020358	NP_065091	P0CI25	TRI49_HUMAN			3	370	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	14					A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000329758.1	37	c.41T>A	CCDS8287.1	.	.	.	.	.	.	.	.	.	.	A	0.752	-0.772470	0.02951	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	D	0.83755	-1.76	0.821	-1.64	0.08318	Zinc finger, RING/FYVE/PHD-type (1);	.	.	.	.	T	0.64000	0.2559	N	0.13352	0.335	0.09310	N	1	B	0.23490	0.086	B	0.28784	0.094	T	0.44128	-0.9348	8	.	.	.	.	2.8545	0.05568	0.444:0.2471:0.3089:0.0	.	14	P0CI25	TRI49_HUMAN	N	14	ENSP00000327604:I14N	.	I	-	2	0	TRIM49	89177245	0.001000	0.12720	0.000000	0.03702	0.015000	0.08874	-0.117000	0.10708	-2.011000	0.00952	-1.366000	0.01203	ATC		0.473	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395435.1	NM_020358		7	61	0	0	0	0.010729	0	7	61				
NAALAD2	10003	broad.mit.edu	37	11	89885563	89885563	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:89885563G>T	ENST00000534061.1	+	6	937	c.707G>T	c.(706-708)tGg>tTg	p.W236L	NAALAD2_ENST00000321955.4_Missense_Mutation_p.W236L|NAALAD2_ENST00000375944.3_Missense_Mutation_p.W236L|NAALAD2_ENST00000525171.1_Missense_Mutation_p.W236L	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	236					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.W236L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCCAAAGGATGGAATCTTCCT	0.468																																							uc001pdf.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(706-708)TGG>TTG		N-acetylated alpha-linked acidic dipeptidase 2							111.0	96.0	101.0					11																	89885563		2201	4299	6500	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89885563G>T	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.707G>T	11.37:g.89885563G>T	ENSP00000432481:p.Trp236Leu					NAALAD2_uc009yvx.2_Missense_Mutation_p.W236L|NAALAD2_uc009yvy.2_Missense_Mutation_p.W236L|NAALAD2_uc001pdd.2_Missense_Mutation_p.W236L|NAALAD2_uc001pde.2_Missense_Mutation_p.W236L	p.W236L	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			6	816	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	236			Extracellular (Potential).		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.707G>T	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915558	0.92178	.	.	ENSG00000077616	ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944	T;T;T;T	0.05649	3.41;3.41;3.41;3.41	5.22	5.22	0.72569	Protease-associated domain, PA (1);	0.000000	0.64402	D	0.000002	T	0.36799	0.0980	M	0.93197	3.39	0.80722	D	1	D;P;D;D;P	0.76494	0.99;0.821;0.961;0.999;0.894	P;P;P;D;P	0.80764	0.826;0.532;0.727;0.994;0.612	T	0.51934	-0.8642	9	.	.	.	-5.1661	18.7686	0.91882	0.0:0.0:1.0:0.0	.	236;236;236;236;236	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	L	236	ENSP00000432481:W236L;ENSP00000320083:W236L;ENSP00000435249:W236L;ENSP00000365111:W236L	.	W	+	2	0	NAALAD2	89525211	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.091000	0.94151	2.435000	0.82474	0.655000	0.94253	TGG		0.468	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		16	61	1	0	2.31682e-05	0.003163	2.75172e-05	16	61				
FAT3	120114	broad.mit.edu	37	11	92495149	92495149	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:92495149G>A	ENST00000298047.6	+	4	3814	c.3797G>A	c.(3796-3798)cGt>cAt	p.R1266H	RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000409404.2_Missense_Mutation_p.R1266H|FAT3_ENST00000525166.1_Missense_Mutation_p.R1116H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1266	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R1266H(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGCCAGAACGTGACCGAAAG	0.473										TCGA Ovarian(4;0.039)																													uc001pdj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(3796-3798)CGT>CAT		FAT tumor suppressor homolog 3							177.0	171.0	173.0					11																	92495149		1901	4129	6030	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92495149G>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.3797G>A	11.37:g.92495149G>A	ENSP00000298047:p.Arg1266His	TCGA Ovarian(4;0.039)					p.R1266H	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			4	3814	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1266			Cadherin 12.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3797G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.308395	0.95629	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.52526	0.66;0.66;0.66	5.58	5.58	0.84498	.	.	.	.	.	T	0.66877	0.2834	L	0.52823	1.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67875	-0.5557	9	0.72032	D	0.01	.	19.5733	0.95430	0.0:0.0:1.0:0.0	.	1266	Q8TDW7-3	.	H	1266;1266;1116	ENSP00000298047:R1266H;ENSP00000387040:R1266H;ENSP00000432586:R1116H	ENSP00000298047:R1266H	R	+	2	0	FAT3	92134797	1.000000	0.71417	0.968000	0.41197	0.967000	0.64934	9.787000	0.99055	2.618000	0.88619	0.563000	0.77884	CGT		0.473	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		30	212	0	0	0	0.008361	0	30	212				
CNTN5	53942	broad.mit.edu	37	11	99932105	99932105	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:99932105G>T	ENST00000524871.1	+	10	1432	c.1142G>T	c.(1141-1143)cGt>cTt	p.R381L	CNTN5_ENST00000418526.2_Missense_Mutation_p.R307L|CNTN5_ENST00000528682.1_Missense_Mutation_p.R381L|CNTN5_ENST00000527185.1_Missense_Mutation_p.R381L|CNTN5_ENST00000279463.3_Missense_Mutation_p.R381L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	381	Ig-like C2-type 3.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.R381L(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATTCCTTTCGTGGACAATTA	0.393																																							uc001pga.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(1141-1143)CGT>CTT		contactin 5 isoform long							60.0	58.0	58.0					11																	99932105		1867	4097	5964	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99932105G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1142G>T	11.37:g.99932105G>T	ENSP00000435637:p.Arg381Leu					CNTN5_uc009ywv.1_Missense_Mutation_p.R381L|CNTN5_uc001pfz.2_Missense_Mutation_p.R381L|CNTN5_uc001pgb.2_Missense_Mutation_p.R307L	p.R381L	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	10	1481	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	381			Ig-like C2-type 3.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.1142G>T	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041242	0.75732	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.43	5.43	0.79202	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.048896	0.85682	D	0.000000	T	0.71375	0.3332	N	0.21448	0.665	0.51767	D	0.99993	P;D;D	0.60160	0.949;0.987;0.982	P;P;D	0.63192	0.887;0.774;0.912	T	0.75196	-0.3403	10	0.87932	D	0	.	18.5804	0.91168	0.0:0.0:1.0:0.0	.	381;307;381	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	L	381;381;381;307;381	ENSP00000433575:R381L;ENSP00000436185:R381L;ENSP00000435637:R381L;ENSP00000393229:R307L;ENSP00000279463:R381L	ENSP00000279463:R381L	R	+	2	0	CNTN5	99437315	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.211000	0.58507	2.704000	0.92352	0.585000	0.79938	CGT		0.393	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		3	50	1	0	0.00024832	0.009096	0.000277565	3	50				
MMP13	4322	broad.mit.edu	37	11	102820906	102820906	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:102820906A>G	ENST00000260302.3	-	6	878	c.850T>C	c.(850-852)Tgt>Cgt	p.C284R	MMP13_ENST00000340273.4_Missense_Mutation_p.C284R	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	284	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C284R(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GAAGGGTCACATTTGTCTGGC	0.423																																							uc001phl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(850-852)TGT>CGT		matrix metalloproteinase 13 preproprotein							378.0	341.0	354.0					11																	102820906		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102820906A>G	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.850T>C	11.37:g.102820906A>G	ENSP00000260302:p.Cys284Arg						p.C284R	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	6	878	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	284					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.850T>C	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.460020	0.84317	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.21191	2.02;2.05	5.77	5.77	0.91146	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.61627	0.2362	H	0.97732	4.065	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	T	0.76892	-0.2791	10	0.87932	D	0	.	15.7627	0.78101	1.0:0.0:0.0:0.0	.	284	P45452	MMP13_HUMAN	R	284	ENSP00000260302:C284R;ENSP00000339672:C284R	ENSP00000260302:C284R	C	-	1	0	MMP13	102326116	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.191000	0.70037	0.528000	0.53228	TGT		0.423	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		15	257	0	0	0	0.00499	0	15	257				
EXPH5	23086	broad.mit.edu	37	11	108380887	108380887	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:108380887G>A	ENST00000265843.4	-	6	5457	c.5347C>T	c.(5347-5349)Ctg>Ttg	p.L1783L	EXPH5_ENST00000443411.1_Silent_p.L1595L|EXPH5_ENST00000428840.1_Silent_p.L1707L|EXPH5_ENST00000525344.1_Silent_p.L1776L	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1783					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.L1783L(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCCCACTCCAGAGATGAAGCA	0.478																																							uc001pkk.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(5347-5349)CTG>TTG		exophilin 5 isoform a							88.0	96.0	93.0					11																	108380887		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108380887G>A		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.5347C>T	11.37:g.108380887G>A						EXPH5_uc010rvy.1_Silent_p.L1595L|EXPH5_uc010rvz.1_Silent_p.L1627L|EXPH5_uc010rwa.1_Silent_p.L1707L	p.L1783L	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	5458	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1783					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.5347C>T	CCDS8341.1																																																																																				0.478	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		7	146	0	0	0	0.00308	0	7	146				
BACE1	23621	broad.mit.edu	37	11	117163902	117163902	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:117163902G>C	ENST00000313005.6	-	5	1168	c.708C>G	c.(706-708)atC>atG	p.I236M	BACE1_ENST00000428381.2_Missense_Mutation_p.I167M|BACE1_ENST00000514464.1_5'Flank|BACE1_ENST00000510630.1_Missense_Mutation_p.I111M|BACE1_ENST00000528053.1_Missense_Mutation_p.I236M|BACE1_ENST00000445823.2_Missense_Mutation_p.I192M|BACE1_ENST00000392937.6_Missense_Mutation_p.I136M|BACE1_ENST00000513780.1_Missense_Mutation_p.I211M	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	236					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)	p.I236M(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		TACCTCCAATGATCTAGGGAA	0.522																																							uc001pqz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(706-708)ATC>ATG		beta-site APP-cleaving enzyme 1 isoform A							97.0	92.0	94.0					11																	117163902		2201	4296	6497	SO:0001583	missense	23621				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	g.chr11:117163902G>C	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.708C>G	11.37:g.117163902G>C	ENSP00000318585:p.Ile236Met					BACE1_uc001pqw.2_Missense_Mutation_p.I211M|BACE1_uc001pqx.2_Missense_Mutation_p.I167M|BACE1_uc001pqy.2_Missense_Mutation_p.I192M|BACE1_uc010rxg.1_Missense_Mutation_p.I111M|BACE1_uc010rxh.1_Missense_Mutation_p.I136M|BACE1_uc009yzo.1_5'Flank	p.I236M	NM_012104	NP_036236	P56817	BACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)	5	1169	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	236			Extracellular (Potential).		A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	ENST00000313005.6	37	c.708C>G	CCDS8383.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.5|22.5	4.302078|4.302078	0.81136|0.81136	.|.	.|.	ENSG00000186318|ENSG00000186318	ENST00000530844;ENST00000504995|ENST00000313005;ENST00000392937;ENST00000528053;ENST00000510630;ENST00000428381;ENST00000513780;ENST00000445823;ENST00000292095	.|T;T;T;T;T;T	.|0.60299	.|0.2;0.2;0.2;0.2;0.2;0.2	6.07|6.07	5.15|5.15	0.70609|0.70609	.|Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	.|0.050172	.|0.85682	.|D	.|0.000000	T|T	0.58736|0.58736	0.2143|0.2143	L|L	0.39692|0.39692	1.235|1.235	0.58432|0.58432	D|D	0.999996|0.999996	.|B;P;P;B;P;P	.|0.49783	.|0.317;0.916;0.693;0.092;0.906;0.928	.|B;P;P;B;P;P	.|0.54590	.|0.264;0.756;0.478;0.113;0.475;0.462	T|T	0.59085|0.59085	-0.7520|-0.7520	5|10	.|0.59425	.|D	.|0.04	.|.	8.8762|8.8762	0.35348|0.35348	0.0739:0.0:0.7763:0.1498|0.0739:0.0:0.7763:0.1498	.|.	.|136;111;236;192;167;211	.|F8W807;E9PE65;P56817;P56817-3;P56817-4;P56817-2	.|.;.;BACE1_HUMAN;.;.;.	D|M	106;166|236;136;236;111;167;211;192;2	.|ENSP00000318585:I236M;ENSP00000431848:I236M;ENSP00000422461:I111M;ENSP00000402228:I167M;ENSP00000424536:I211M;ENSP00000403685:I192M	.|ENSP00000292095:I2M	H|I	-|-	1|3	0|3	BACE1|BACE1	116669112|116669112	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	4.194000|4.194000	0.58393|0.58393	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	CAT|ATC		0.522	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			5	110	0	0	0	0.001168	0	5	110				
HMBS	3145	broad.mit.edu	37	11	118959797	118959797	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:118959797A>G	ENST00000278715.3	+	4	317	c.166A>G	c.(166-168)Atg>Gtg	p.M56V	HMBS_ENST00000537841.1_Missense_Mutation_p.M39V|HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000542729.1_Missense_Mutation_p.M39V|HMBS_ENST00000442944.2_Missense_Mutation_p.M39V|HMBS_ENST00000544387.1_Missense_Mutation_p.M56V|HMBS_ENST00000543090.1_Missense_Mutation_p.M38V|HMBS_ENST00000392841.1_Missense_Mutation_p.M39V	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	56					heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)	p.M56V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CTCAGTTGCTATGTCCACCAC	0.478																																							uc001puz.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(166-168)ATG>GTG		hydroxymethylbilane synthase isoform 1							203.0	188.0	193.0					11																	118959797		2200	4295	6495	SO:0001583	missense	3145	Porphyria_Acute_Intermittent			peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity	g.chr11:118959797A>G	X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"""uroporphyrinogen I synthase"", ""porphobilinogen deaminase"", ""porphyria, acute; Chester type"""	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.166A>G	11.37:g.118959797A>G	ENSP00000278715:p.Met56Val					HMBS_uc009zao.1_Missense_Mutation_p.M1V|HMBS_uc001pvc.1_Missense_Mutation_p.M1V|HMBS_uc009zap.1_Missense_Mutation_p.M39V|HMBS_uc001pva.1_Missense_Mutation_p.M56V|HMBS_uc001pvb.1_Missense_Mutation_p.M38V|HMBS_uc001pvd.1_Missense_Mutation_p.M39V|HMBS_uc001pve.1_Missense_Mutation_p.M39V|HMBS_uc001pvf.1_Missense_Mutation_p.M39V	p.M56V	NM_000190	NP_000181	P08397	HEM3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)	4	323	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	56					A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Missense_Mutation	SNP	ENST00000278715.3	37	c.166A>G	CCDS8409.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.853653	0.91355	.	.	ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000149397	ENST00000278715;ENST00000537841;ENST00000542729;ENST00000546302;ENST00000544387;ENST00000543090;ENST00000539986;ENST00000535253;ENST00000392841;ENST00000442944	D;D;D;D;D;D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29	6.17	6.17	0.99709	Porphobilinogen deaminase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99327	0.9764	L	0.45352	1.415	0.80722	D	1	D;D;D;B;D	0.69078	0.993;0.996;0.996;0.087;0.997	D;D;D;B;D	0.80764	0.981;0.99;0.99;0.236;0.994	D	0.98951	1.0794	10	0.87932	D	0	-35.8201	14.5632	0.68156	1.0:0.0:0.0:0.0	.	39;39;38;56;56	P08397-2;G3V1P4;F5H345;G5EA58;P08397	.;.;.;.;HEM3_HUMAN	V	56;39;39;56;56;38;39;39;39;39	ENSP00000278715:M56V;ENSP00000444730:M39V;ENSP00000443058:M39V;ENSP00000445599:M56V;ENSP00000438424:M56V;ENSP00000445429:M38V;ENSP00000440092:M39V;ENSP00000442079:M39V;ENSP00000376584:M39V;ENSP00000392041:M39V	ENSP00000392041:M39V	M	+	1	0	CTD-2589C9.4;HMBS	118465007	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	8.332000	0.90024	2.371000	0.80710	0.533000	0.62120	ATG		0.478	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	NM_000190		34	109	0	0	0	0.003755	0	34	109				
C11orf63	79864	broad.mit.edu	37	11	122805659	122805659	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:122805659G>T	ENST00000531316.1	+	4	1602	c.1510G>T	c.(1510-1512)Gtg>Ttg	p.V504L	C11orf63_ENST00000227349.2_Missense_Mutation_p.V504L			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	504					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)			p.V504L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TAAGAGACACGTGCTCCTGAG	0.378																																							uc001pym.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1510-1512)GTG>TTG		hypothetical protein LOC79864 isoform 1							91.0	94.0	93.0					11																	122805659		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122805659G>T	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.1510G>T	11.37:g.122805659G>T	ENSP00000431669:p.Val504Leu						p.V504L	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	5	1807	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	504					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.1510G>T	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480090	0.44044	.	.	ENSG00000109944	ENST00000227349;ENST00000531316	T;T	0.45668	0.89;0.89	5.7	0.186	0.15105	.	1.152260	0.06559	N	0.746462	T	0.32285	0.0824	L	0.51422	1.61	0.09310	N	1	B	0.28900	0.227	B	0.25759	0.063	T	0.39313	-0.9620	10	0.52906	T	0.07	1.4264	1.8524	0.03172	0.1724:0.2978:0.3762:0.1536	.	504	Q6NUN7	CK063_HUMAN	L	504	ENSP00000227349:V504L;ENSP00000431669:V504L	ENSP00000227349:V504L	V	+	1	0	C11orf63	122310869	0.000000	0.05858	0.002000	0.10522	0.436000	0.31835	0.071000	0.14594	0.754000	0.32968	0.650000	0.86243	GTG		0.378	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806		25	90	1	0	2.41591e-17	0.004656	4.02909e-17	25	90				
OR10G4	390264	broad.mit.edu	37	11	123887059	123887059	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:123887059A>G	ENST00000320891.4	+	1	778	c.778A>G	c.(778-780)Agg>Ggg	p.R260G		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R260G(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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;0.0401)		CATTTATCTGAGGCCAGGCTC	0.527																																							uc010sac.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(778-780)AGG>GGG		olfactory receptor, family 10, subfamily G,							118.0	93.0	102.0					11																	123887059		2201	4299	6500	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123887059A>G	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.778A>G	11.37:g.123887059A>G	ENSP00000325076:p.Arg260Gly						p.R260G	NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	778	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	260			Extracellular (Potential).		Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.778A>G	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	-	9.443	1.088675	0.20390	.	.	ENSG00000254737	ENST00000320891	T	0.35973	1.28	3.48	2.27	0.28462	GPCR, rhodopsin-like superfamily (1);	0.291295	0.24566	N	0.037429	T	0.52901	0.1763	M	0.73217	2.22	0.26349	N	0.977232	D	0.89917	1.0	D	0.91635	0.999	T	0.39921	-0.9590	10	0.87932	D	0	.	6.6806	0.23117	0.7884:0.0:0.0:0.2116	.	260	Q8NGN3	O10G4_HUMAN	G	260	ENSP00000325076:R260G	ENSP00000325076:R260G	R	+	1	2	OR10G4	123392269	0.002000	0.14202	0.168000	0.22838	0.021000	0.10359	1.089000	0.30890	0.477000	0.27464	0.473000	0.43528	AGG		0.527	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		8	72	0	0	0	0.00308	0	8	72				
OR10G9	219870	broad.mit.edu	37	11	123893753	123893753	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:123893753C>A	ENST00000375024.1	+	1	34	c.34C>A	c.(34-36)Ctc>Atc	p.L12I		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L12I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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;0.0399)		AGCGTTCATCCTCACGGGCCT	0.552																																							uc010sad.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(34-36)CTC>ATC		olfactory receptor, family 10, subfamily G,							174.0	168.0	170.0					11																	123893753		2201	4299	6500	SO:0001583	missense	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123893753C>A	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.34C>A	11.37:g.123893753C>A	ENSP00000364164:p.Leu12Ile						p.L12I	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	34	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	12			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000375024.1	37	c.34C>A	CCDS31703.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716025	0.48622	.	.	ENSG00000236981	ENST00000375024	T	0.00561	6.59	3.33	3.33	0.38152	.	0.000000	0.44097	D	0.000486	T	0.01189	0.0039	M	0.82823	2.61	0.25417	N	0.988303	P	0.35401	0.499	P	0.45506	0.483	T	0.11518	-1.0584	10	0.54805	T	0.06	.	8.0825	0.30752	0.0:0.8817:0.0:0.1183	.	12	Q8NGN4	O10G9_HUMAN	I	12	ENSP00000364164:L12I	ENSP00000364164:L12I	L	+	1	0	OR10G9	123398963	0.941000	0.31946	0.956000	0.39512	0.073000	0.16967	1.533000	0.36040	1.854000	0.53819	0.655000	0.94253	CTC		0.552	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		24	145	1	0	7.92952e-12	0.003954	1.19977e-11	24	145				
FLI1	2313	broad.mit.edu	37	11	128642833	128642833	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr11:128642833T>G	ENST00000527786.2	+	4	1031	c.542T>G	c.(541-543)cTc>cGc	p.L181R	FLI1_ENST00000534087.2_Missense_Mutation_p.L148R|FLI1_ENST00000525560.1_Intron|FLI1_ENST00000344954.6_Missense_Mutation_p.L148R|FLI1_ENST00000281428.8_Missense_Mutation_p.L115R	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	181	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				blood circulation (GO:0008015)|cell differentiation (GO:0030154)|hemostasis (GO:0007599)|megakaryocyte development (GO:0035855)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L181R(1)	EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GCCACCACCCTCTACAACACG	0.527			T	EWSR1	Ewing sarcoma																																		uc010sbu.1		NA		Dom	yes		11	11q24	2313	T	Friend leukemia virus integration 1			M	EWSR1		Ewing sarcoma	EWSR1/FLI1(2266)	1	Substitution - Missense(1)		lung(1)	bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2)	2273						c.(541-543)CTC>CGC		Friend leukemia virus integration 1							166.0	171.0	170.0					11																	128642833		2076	4212	6288	SO:0001583	missense	2313				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:128642833T>G	M98833	CCDS44768.1, CCDS53725.1, CCDS59230.1, CCDS59231.1	11q24.1-q24.3	2014-09-17	2013-08-07		ENSG00000151702	ENSG00000151702			3749	protein-coding gene	gene with protein product		193067	"""Friend leukemia virus integration 1"""			1765382	Standard	NM_001167681		Approved	SIC-1, EWSR2	uc010sbu.2	Q01543	OTTHUMG00000165792	ENST00000527786.2:c.542T>G	11.37:g.128642833T>G	ENSP00000433488:p.Leu181Arg					FLI1_uc010sbt.1_Intron|FLI1_uc010sbv.1_Missense_Mutation_p.L148R|FLI1_uc009zci.2_Missense_Mutation_p.L115R	p.L181R	NM_002017	NP_002008	Q01543	FLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)	4	883	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)	181			PNT.		B2R8H2|B4DFV4|B4DTC6|G3V183|Q14319|Q92480|Q9UE07	Missense_Mutation	SNP	ENST00000527786.2	37	c.542T>G	CCDS44768.1	.	.	.	.	.	.	.	.	.	.	T	9.746	1.166228	0.21621	.	.	ENSG00000151702	ENST00000344954;ENST00000429175;ENST00000534087;ENST00000281428	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.1	3.93	0.45458	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.597438	0.18522	N	0.138742	T	0.13415	0.0325	N	0.02916	-0.46	0.27111	N	0.962367	B;B	0.17667	0.002;0.023	B;B	0.26864	0.014;0.074	T	0.30208	-0.9986	9	.	.	.	.	9.853	0.41068	0.0:0.1461:0.0:0.8539	.	181;115	Q01543;Q01543-2	FLI1_HUMAN;.	R	148;181;148;115	ENSP00000339627:L148R;ENSP00000399985:L181R;ENSP00000432950:L148R;ENSP00000281428:L115R	.	L	+	2	0	FLI1	128148043	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.307000	0.43682	0.747000	0.32809	0.529000	0.55759	CTC		0.527	FLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386226.2	NM_002017		40	138	0	0	0	0.00361	0	40	138				
CHD4	1108	broad.mit.edu	37	12	6709529	6709529	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:6709529C>G	ENST00000357008.2	-	9	1259	c.1096G>C	c.(1096-1098)Gag>Cag	p.E366Q	CHD4_ENST00000309577.6_Missense_Mutation_p.E366Q|CHD4_ENST00000544040.1_Missense_Mutation_p.E359Q|CHD4_ENST00000544484.1_Missense_Mutation_p.E363Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	366					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.E366Q(2)		central_nervous_system(2)	2						TGGTCTGTCTCATAACCATCC	0.567																																					Colon(32;586 792 4568 16848 45314)	Colon(32;586 792 4568 16848 45314)	uc001qpo.2		NA																	2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(1096-1098)GAG>CAG		chromodomain helicase DNA binding protein 4							125.0	117.0	119.0					12																	6709529		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6709529C>G	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1096G>C	12.37:g.6709529C>G	ENSP00000349508:p.Glu366Gln					CHD4_uc001qpn.2_Missense_Mutation_p.E359Q|CHD4_uc001qpp.2_Missense_Mutation_p.E363Q	p.E366Q	NM_001273	NP_001264	Q14839	CHD4_HUMAN			9	1260	-			366					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.1096G>C	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579877	0.65992	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	3.62	3.62	0.41486	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.140615	0.47093	D	0.000243	D	0.91791	0.7403	M	0.77820	2.39	0.80722	D	1	D;D;D	0.71674	0.998;0.995;0.996	D;D;D	0.80764	0.994;0.949;0.986	D	0.92672	0.6151	10	0.56958	D	0.05	-0.6199	16.6054	0.84827	0.0:1.0:0.0:0.0	.	366;366;359	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	363;359;366;366;340	ENSP00000440392:E363Q;ENSP00000440542:E359Q;ENSP00000312419:E366Q;ENSP00000349508:E366Q	ENSP00000312419:E366Q	E	-	1	0	CHD4	6579790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.316000	0.78162	0.561000	0.74099	GAG		0.567	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		5	69	0	0	0	0.00308	0	5	69				
PEX5	5830	broad.mit.edu	37	12	7361763	7361763	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:7361763C>T	ENST00000455147.2	+	15	2137	c.1557C>T	c.(1555-1557)ccC>ccT	p.P519P	PEX5_ENST00000266564.3_Silent_p.P511P|PEX5_ENST00000412720.2_Silent_p.P540P|PEX5_ENST00000420616.2_Silent_p.P519P|PEX5_ENST00000266563.5_Silent_p.P482P|PEX5_ENST00000434354.2_Silent_p.P534P	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	519					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)	p.P511P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GCGTTCGTCCCAATGTGAGCC	0.532																																							uc009zfu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1555-1557)CCC>CCT		peroxisomal biogenesis factor 5 isoform d							81.0	70.0	74.0					12																	7361763		2203	4300	6503	SO:0001819	synonymous_variant	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7361763C>T	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.1557C>T	12.37:g.7361763C>T						PEX5_uc001qsw.2_Silent_p.P519P|PEX5_uc010sgc.1_Silent_p.P534P|PEX5_uc001qsu.2_Silent_p.P482P|PEX5_uc010sgd.1_Silent_p.P540P|PEX5_uc001qsv.2_Silent_p.P511P	p.P519P	NM_001131026	NP_001124498	P50542	PEX5_HUMAN			15	2137	+			519			TPR 5.		A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Silent	SNP	ENST00000455147.2	37	c.1557C>T	CCDS44823.1																																																																																				0.532	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		24	36	0	0	0	0.00333	0	24	36				
FAM90A1	55138	broad.mit.edu	37	12	8374849	8374849	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:8374849C>T	ENST00000538603.1	-	7	1522	c.964G>A	c.(964-966)Gga>Aga	p.G322R	FAM90A1_ENST00000307435.6_Missense_Mutation_p.G322R	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	322							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.G322R(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AGCTCACCTCCCTGGATGGCG	0.637																																							uc001qui.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(964-966)GGA>AGA		hypothetical protein LOC55138							12.0	14.0	13.0					12																	8374849		2088	4138	6226	SO:0001583	missense	55138						nucleic acid binding|zinc ion binding	g.chr12:8374849C>T	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.964G>A	12.37:g.8374849C>T	ENSP00000445418:p.Gly322Arg					FAM90A1_uc001quh.2_Missense_Mutation_p.G322R	p.G322R	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	7	1523	-			322					D3DUU9|Q9NVZ6	Missense_Mutation	SNP	ENST00000538603.1	37	c.964G>A	CCDS31738.1	.	.	.	.	.	.	.	.	.	.	.	6.222	0.409157	0.11812	.	.	ENSG00000171847	ENST00000307435;ENST00000538603	T;T	0.11385	2.78;2.78	1.02	0.00929	0.14078	.	.	.	.	.	T	0.09512	0.0234	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.74023	0.982	T	0.25950	-1.0117	9	0.12766	T	0.61	-1.1018	3.2223	0.06720	0.0:0.6725:0.0:0.3275	.	322	Q86YD7	F90A1_HUMAN	R	322	ENSP00000307798:G322R;ENSP00000445418:G322R	ENSP00000307798:G322R	G	-	1	0	FAM90A1	8266116	0.021000	0.18746	0.000000	0.03702	0.010000	0.07245	0.259000	0.18405	0.000000	0.14550	0.194000	0.17425	GGA		0.637	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	NM_018088		6	27	0	0	0	0.001168	0	6	27				
DNM1L	10059	broad.mit.edu	37	12	32884849	32884849	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:32884849G>T	ENST00000549701.1	+	12	1492	c.1418G>T	c.(1417-1419)cGt>cTt	p.R473L	DNM1L_ENST00000381000.4_Missense_Mutation_p.R486L|DNM1L_ENST00000547312.1_Missense_Mutation_p.R473L|DNM1L_ENST00000553257.1_Missense_Mutation_p.R486L|DNM1L_ENST00000358214.5_Missense_Mutation_p.R486L|DNM1L_ENST00000452533.2_Missense_Mutation_p.R473L|DNM1L_ENST00000266481.6_Missense_Mutation_p.R473L|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000414834.2_Missense_Mutation_p.R270L			O00429	DNM1L_HUMAN	dynamin 1-like	473	Interaction with GSK3B.|Middle domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)	p.R473L(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGTCTTCTTCGTAAAAGGTTG	0.318																																							uc001rld.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1417-1419)CGT>CTT		dynamin 1-like isoform 1							163.0	145.0	151.0					12																	32884849		2203	4300	6503	SO:0001583	missense	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32884849G>T	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.1418G>T	12.37:g.32884849G>T	ENSP00000450399:p.Arg473Leu					DNM1L_uc001rle.2_Missense_Mutation_p.R473L|DNM1L_uc001rlf.2_Missense_Mutation_p.R473L|DNM1L_uc010skh.1_Missense_Mutation_p.R539L|DNM1L_uc001rlg.2_Missense_Mutation_p.R539L|DNM1L_uc001rlh.2_Missense_Mutation_p.R526L|DNM1L_uc010ski.1_Missense_Mutation_p.R270L	p.R473L	NM_012062	NP_036192	O00429	DNM1L_HUMAN			12	1579	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		473			Middle domain.|Interaction with GSK3B.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	Missense_Mutation	SNP	ENST00000549701.1	37	c.1418G>T	CCDS8729.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716520	0.89205	.	.	ENSG00000087470	ENST00000452533;ENST00000411996;ENST00000266479;ENST00000553257;ENST00000549701;ENST00000358214;ENST00000266481;ENST00000547312;ENST00000414834;ENST00000381000	T;T;T;T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81;-0.81	5.07	4.18	0.49190	Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.89241	0.6659	H	0.94808	3.585	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;0.999;0.999;0.997;0.999	D;D;D;D;D;D	0.80764	0.994;0.969;0.969;0.971;0.969;0.969	D	0.91900	0.5531	10	0.87932	D	0	.	13.7558	0.62935	0.0745:0.0:0.9255:0.0	.	270;526;526;539;526;473	B4DGC9;D3DUW6;D3DUW5;F8W8D1;D3DUW7;O00429	.;.;.;.;.;DNM1L_HUMAN	L	473;539;473;486;473;486;473;473;270;486	ENSP00000415131:R473L;ENSP00000449089:R486L;ENSP00000450399:R473L;ENSP00000350948:R486L;ENSP00000266481:R473L;ENSP00000448610:R473L;ENSP00000404160:R270L;ENSP00000370388:R486L	ENSP00000266479:R473L	R	+	2	0	DNM1L	32776116	1.000000	0.71417	0.961000	0.40146	0.998000	0.95712	9.248000	0.95456	1.272000	0.44329	0.655000	0.94253	CGT		0.318	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		16	81	1	0	2.94398e-08	0.007413	3.99158e-08	16	81				
ALG10	84920	broad.mit.edu	37	12	34176900	34176900	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:34176900G>A	ENST00000266483.2	+	2	494	c.175G>A	c.(175-177)Gat>Aat	p.D59N	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Missense_Mutation_p.D59N	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	59					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.D59N(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTTAAAGTGGGATCCCATGAT	0.413																																							uc001rlm.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(175-177)GAT>AAT		asparagine-linked glycosylation 10 homolog							204.0	201.0	202.0					12																	34176900		2203	4298	6501	SO:0001583	missense	84920				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:34176900G>A	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.175G>A	12.37:g.34176900G>A	ENSP00000266483:p.Asp59Asn						p.D59N	NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN			2	494	+	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)	59			Extracellular (Potential).		Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	c.175G>A	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.941009	0.73557	.	.	ENSG00000139133	ENST00000266483;ENST00000538927	T;T	0.61040	0.14;0.14	3.57	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.71796	0.3382	M	0.75884	2.315	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.73681	-0.3906	10	0.42905	T	0.14	.	13.0793	0.59104	0.0:0.0:1.0:0.0	.	59	Q5BKT4	AG10A_HUMAN	N	59	ENSP00000266483:D59N;ENSP00000444084:D59N	ENSP00000266483:D59N	D	+	1	0	ALG10	34068167	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	9.431000	0.97494	1.729000	0.51567	0.184000	0.17185	GAT		0.413	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		77	183	0	0	0	0.00361	0	77	183				
ALG10	84920	broad.mit.edu	37	12	34179422	34179422	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:34179422G>A	ENST00000266483.2	+	3	1313	c.994G>A	c.(994-996)Gtc>Atc	p.V332I	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron|AC046130.1_ENST00000401300.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	332					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.V332I(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GGTTACCTTAGTCTCTGTGTT	0.328																																							uc001rlm.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(994-996)GTC>ATC		asparagine-linked glycosylation 10 homolog							99.0	108.0	105.0					12																	34179422		2202	4297	6499	SO:0001583	missense	84920				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:34179422G>A	AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.994G>A	12.37:g.34179422G>A	ENSP00000266483:p.Val332Ile						p.V332I	NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN			3	1313	+	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)	332			Helical; (Potential).		Q6NS98|Q96DU0|Q96SM6	Missense_Mutation	SNP	ENST00000266483.2	37	c.994G>A	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	G	3.188	-0.166345	0.06461	.	.	ENSG00000139133	ENST00000266483	T	0.55930	0.49	3.37	2.43	0.29744	.	0.398547	0.28431	N	0.015379	T	0.20659	0.0497	N	0.04090	-0.28	0.31778	N	0.631247	B	0.02656	0.0	B	0.06405	0.002	T	0.30534	-0.9975	10	0.02654	T	1	.	4.9082	0.13809	0.1266:0.2232:0.6503:0.0	.	332	Q5BKT4	AG10A_HUMAN	I	332	ENSP00000266483:V332I	ENSP00000266483:V332I	V	+	1	0	ALG10	34070689	0.219000	0.23619	0.023000	0.16930	0.885000	0.51271	0.553000	0.23391	0.502000	0.28037	0.184000	0.17185	GTC		0.328	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1	NM_032834		37	191	0	0	0	0.00623	0	37	191				
LRRK2	120892	broad.mit.edu	37	12	40709081	40709081	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:40709081G>T	ENST00000298910.7	+	33	4864	c.4806G>T	c.(4804-4806)tgG>tgT	p.W1602C	LRRK2_ENST00000481256.1_3'UTR	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1602					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.W1602C(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AACCCAAGTGGCTTTGTAAAA	0.428																																							uc001rmg.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(4804-4806)TGG>TGT		leucine-rich repeat kinase 2							242.0	221.0	228.0					12																	40709081		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40709081G>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4806G>T	12.37:g.40709081G>T	ENSP00000298910:p.Trp1602Cys					LRRK2_uc009zjw.2_Missense_Mutation_p.W440C|LRRK2_uc001rmi.2_Missense_Mutation_p.W435C	p.W1602C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			33	4927	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1602					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.4806G>T	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.387892	0.82902	.	.	ENSG00000188906	ENST00000298910	D	0.99232	-5.6	5.47	5.47	0.80525	.	0.200258	0.46442	D	0.000290	D	0.99402	0.9789	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99271	1.0893	10	0.87932	D	0	.	19.3346	0.94309	0.0:0.0:1.0:0.0	.	1602;1602	Q17RV3;Q5S007	.;LRRK2_HUMAN	C	1602	ENSP00000298910:W1602C	ENSP00000298910:W1602C	W	+	3	0	LRRK2	38995348	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.170000	0.94795	2.549000	0.85964	0.650000	0.86243	TGG		0.428	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		52	142	1	0	3.88204e-17	0.00361	6.46387e-17	52	142				
COL2A1	1280	broad.mit.edu	37	12	48371152	48371152	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:48371152G>T	ENST00000380518.3	-	46	3388	c.3224C>A	c.(3223-3225)tCc>tAc	p.S1075Y	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.S1006Y	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1075	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.S1006Y(1)|p.S1075Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGGCCAGGGGAGCCAGGGGG	0.612																																							uc001rqu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(3223-3225)TCC>TAC		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						48.0	60.0	56.0					12																	48371152		2203	4299	6502	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48371152G>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.3224C>A	12.37:g.48371152G>T	ENSP00000369889:p.Ser1075Tyr					COL2A1_uc001rqt.2_5'Flank|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Missense_Mutation_p.S1006Y	p.S1075Y	NM_001844	NP_001835	P02458	CO2A1_HUMAN			46	3405	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	1075			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.3224C>A	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946433	0.73672	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.94457	-3.43;-3.43	5.15	5.15	0.70609	.	0.140359	0.45867	D	0.000334	D	0.90967	0.7160	N	0.17082	0.46	0.53005	D	0.999963	P;P	0.47191	0.891;0.826	P;B	0.44359	0.447;0.261	D	0.92699	0.6173	10	0.72032	D	0.01	.	18.2304	0.89933	0.0:0.0:1.0:0.0	.	1006;1075	P02458-1;P02458	.;CO2A1_HUMAN	Y	1075;1006;1006	ENSP00000369889:S1075Y;ENSP00000338213:S1006Y	ENSP00000338213:S1006Y	S	-	2	0	COL2A1	46657419	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.807000	0.99171	2.401000	0.81631	0.563000	0.77884	TCC		0.612	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		8	88	1	0	7.48243e-07	0.006214	9.59663e-07	8	88				
AQP2	359	broad.mit.edu	37	12	50344816	50344816	+	Missense_Mutation	SNP	A	A	C	rs104894331		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:50344816A>C	ENST00000199280.3	+	1	288	c.203A>C	c.(202-204)aAc>aCc	p.N68T	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	68			N -> S (in ANDI). {ECO:0000269|PubMed:9048343}.		actin filament depolymerization (GO:0030042)|aging (GO:0007568)|apoptotic process (GO:0006915)|cell volume homeostasis (GO:0006884)|cellular response to copper ion (GO:0071280)|cellular response to mercury ion (GO:0071288)|cellular response to water deprivation (GO:0042631)|excretion (GO:0007588)|female pregnancy (GO:0007565)|glycerol transport (GO:0015793)|hyperosmotic response (GO:0006972)|metanephric collecting duct development (GO:0072205)|positive regulation of calcium ion transport (GO:0051928)|renal water transport (GO:0003097)|response to calcium ion (GO:0051592)|response to glucagon (GO:0033762)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to salt stress (GO:0009651)|response to starvation (GO:0042594)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	glycerol transmembrane transporter activity (GO:0015168)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.N68T(2)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GCCCACATCAACCCTGCCGTG	0.662																																							uc001rvn.2		NA																	2	Substitution - Missense(2)		cervix(1)|lung(1)	ovary(2)	2	GRCh37	CM970098	AQP2	M	rs104894331	c.(202-204)AAC>ACC		aquaporin 2							41.0	41.0	41.0					12																	50344816		2203	4300	6503	SO:0001583	missense	359				cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity	g.chr12:50344816A>C		CCDS8792.1	12q12-q13	2014-09-17				ENSG00000167580		"""Ion channels / Aquaporins"""	634	protein-coding gene	gene with protein product		107777				7512890	Standard	NM_000486		Approved		uc001rvn.3	P41181		ENST00000199280.3:c.203A>C	12.37:g.50344816A>C	ENSP00000199280:p.Asn68Thr						p.N68T	NM_000486	NP_000477	P41181	AQP2_HUMAN			1	293	+			68		N -> S (in ANDI).	Cytoplasmic (Potential).|NPA 1.		Q9UD68	Missense_Mutation	SNP	ENST00000199280.3	37	c.203A>C	CCDS8792.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.414384	0.62511	.	.	ENSG00000167580	ENST00000199280;ENST00000550862	D;T	0.98792	-5.14;-0.93	4.62	4.62	0.57501	Major intrinsic protein, conserved site (1);Aquaporin-like (2);	0.000000	0.64402	D	0.000013	D	0.99569	0.9845	H	0.99911	4.935	0.58432	D	0.999993	D	0.89917	1.0	D	0.71870	0.975	D	0.97411	1.0002	10	0.87932	D	0	-19.7917	12.3053	0.54898	1.0:0.0:0.0:0.0	.	68	P41181	AQP2_HUMAN	T	68	ENSP00000199280:N68T;ENSP00000450022:N68T	ENSP00000199280:N68T	N	+	2	0	AQP2	48631083	1.000000	0.71417	0.995000	0.50966	0.381000	0.30169	7.516000	0.81772	1.859000	0.53934	0.533000	0.62120	AAC		0.662	AQP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405540.1	NM_000486		7	25	0	0	0	0.006122	0	7	25				
LIMA1	51474	broad.mit.edu	37	12	50571335	50571335	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:50571335G>C	ENST00000341247.4	-	11	1941	c.1792C>G	c.(1792-1794)Caa>Gaa	p.Q598E	LIMA1_ENST00000552491.1_Missense_Mutation_p.Q295E|LIMA1_ENST00000552909.1_Missense_Mutation_p.Q437E|LIMA1_ENST00000394943.3_Missense_Mutation_p.Q599E|LIMA1_ENST00000547825.1_Missense_Mutation_p.Q296E|LIMA1_ENST00000552783.1_Missense_Mutation_p.Q439E|LIMA1_ENST00000552823.1_Missense_Mutation_p.Q438E	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	598					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.Q598E(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GAGGTGCTTTGAAATGAAGCT	0.498																																							uc001rwj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1792-1794)CAA>GAA		LIM domain and actin binding 1 isoform b							160.0	161.0	161.0					12																	50571335		2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50571335G>C	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1792C>G	12.37:g.50571335G>C	ENSP00000340184:p.Gln598Glu					LIMA1_uc001rwg.3_Missense_Mutation_p.Q296E|LIMA1_uc001rwh.3_Missense_Mutation_p.Q437E|LIMA1_uc001rwi.3_Missense_Mutation_p.Q439E|LIMA1_uc001rwk.3_Missense_Mutation_p.Q599E|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	p.Q598E	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			11	1966	-			598					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.1792C>G	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.343920	0.24339	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;T;D;T;T;T	0.83250	-0.96;-0.96;-1.28;-1.7;-0.96;-1.28;-1.28	5.49	4.59	0.56863	.	0.759033	0.12337	N	0.477869	T	0.67887	0.2941	N	0.08118	0	0.19945	N	0.999946	B;B;B	0.17038	0.02;0.005;0.012	B;B;B	0.15870	0.007;0.004;0.014	T	0.58956	-0.7544	10	0.51188	T	0.08	.	9.51	0.39071	0.0:0.119:0.545:0.336	.	608;598;437	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	E	295;296;438;599;598;439;437;517	ENSP00000448463:Q295E;ENSP00000448706:Q296E;ENSP00000450266:Q438E;ENSP00000378400:Q599E;ENSP00000340184:Q598E;ENSP00000448779:Q439E;ENSP00000450087:Q437E	ENSP00000340184:Q598E	Q	-	1	0	LIMA1	48857602	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.693000	0.47027	1.422000	0.47177	0.655000	0.94253	CAA		0.498	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		38	289	0	0	0	0.005524	0	38	289				
LIMA1	51474	broad.mit.edu	37	12	50571584	50571584	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:50571584G>C	ENST00000341247.4	-	11	1692	c.1543C>G	c.(1543-1545)Cag>Gag	p.Q515E	LIMA1_ENST00000552491.1_Missense_Mutation_p.Q212E|LIMA1_ENST00000552909.1_Missense_Mutation_p.Q354E|LIMA1_ENST00000394943.3_Missense_Mutation_p.Q516E|LIMA1_ENST00000547825.1_Missense_Mutation_p.Q213E|LIMA1_ENST00000552783.1_Missense_Mutation_p.Q356E|LIMA1_ENST00000552823.1_Missense_Mutation_p.Q355E	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	515					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.Q515E(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TTCTCCTGCTGAGAGGAGGCC	0.567																																							uc001rwj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1543-1545)CAG>GAG		LIM domain and actin binding 1 isoform b							114.0	115.0	114.0					12																	50571584		2203	4300	6503	SO:0001583	missense	51474				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding	g.chr12:50571584G>C	AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1543C>G	12.37:g.50571584G>C	ENSP00000340184:p.Gln515Glu					LIMA1_uc001rwg.3_Missense_Mutation_p.Q213E|LIMA1_uc001rwh.3_Missense_Mutation_p.Q354E|LIMA1_uc001rwi.3_Missense_Mutation_p.Q356E|LIMA1_uc001rwk.3_Missense_Mutation_p.Q516E|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA	p.Q515E	NM_016357	NP_057441	Q9UHB6	LIMA1_HUMAN			11	1717	-			515					B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	ENST00000341247.4	37	c.1543C>G	CCDS8802.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.119790	0.00346	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;T;D;T;T;T	0.83755	-1.02;-1.02;-1.34;-1.76;-1.02;-1.34;-1.34	5.52	5.52	0.82312	.	2.005540	0.01805	N	0.033150	T	0.79106	0.4390	L	0.51422	1.61	0.09310	N	1	B;B;B	0.24368	0.002;0.102;0.06	B;B;B	0.23574	0.007;0.047;0.04	T	0.63514	-0.6620	10	0.05721	T	0.95	.	9.4528	0.38736	0.0775:0.287:0.6354:0.0	.	525;515;354	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	E	212;213;355;516;515;356;354;434	ENSP00000448463:Q212E;ENSP00000448706:Q213E;ENSP00000450266:Q355E;ENSP00000378400:Q516E;ENSP00000340184:Q515E;ENSP00000448779:Q356E;ENSP00000450087:Q354E	ENSP00000340184:Q515E	Q	-	1	0	LIMA1	48857851	0.016000	0.18221	0.010000	0.14722	0.260000	0.26232	1.465000	0.35299	2.745000	0.94114	0.655000	0.94253	CAG		0.567	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406235.2	NM_016357		27	150	0	0	0	0.004656	0	27	150				
BIN2	51411	broad.mit.edu	37	12	51695872	51695872	+	Missense_Mutation	SNP	C	C	T	rs542179917		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:51695872C>T	ENST00000267012.4	-	5	401	c.340G>A	c.(340-342)Gag>Aag	p.E114K	BIN2_ENST00000544402.1_Missense_Mutation_p.E88K|BIN2_ENST00000604560.1_Missense_Mutation_p.E87K|BIN2_ENST00000452142.2_Intron	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	114	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)	p.E114K(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						AGTTTCTCCTCGTAGTCTTCC	0.463													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19418	0.0		0.0	False		,,,				2504	0.0						uc001ryg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(340-342)GAG>AAG		bridging integrator 2							125.0	104.0	111.0					12																	51695872		2203	4300	6503	SO:0001583	missense	51411					cytoplasm	protein binding	g.chr12:51695872C>T	AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.340G>A	12.37:g.51695872C>T	ENSP00000267012:p.Glu114Lys					BIN2_uc009zlz.2_Intron|BIN2_uc001ryh.2_5'UTR|BIN2_uc010sng.1_Missense_Mutation_p.E88K	p.E114K	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN			5	392	-			114			BAR.		Q86VV0|Q9NWK4|Q9UKN4	Missense_Mutation	SNP	ENST00000267012.4	37	c.340G>A	CCDS8811.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512331	0.85389	.	.	ENSG00000110934	ENST00000267012;ENST00000544402	T;T	0.63913	-0.07;-0.07	5.48	5.48	0.80851	BAR (3);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	L	0.60455	1.87	0.48762	D	0.999708	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69217	-0.5203	10	0.21540	T	0.41	-9.197	18.5075	0.90902	0.0:1.0:0.0:0.0	.	88;114	F5H0W4;Q9UBW5	.;BIN2_HUMAN	K	114;88	ENSP00000267012:E114K;ENSP00000445874:E88K	ENSP00000267012:E114K	E	-	1	0	BIN2	49982139	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	3.700000	0.54786	2.758000	0.94735	0.563000	0.77884	GAG		0.463	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000469800.1			7	44	0	0	0	0.00308	0	7	44				
KRT2	3849	broad.mit.edu	37	12	53041528	53041528	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:53041528G>A	ENST00000309680.3	-	6	1255	c.1234C>T	c.(1234-1236)Cat>Tat	p.H412Y		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	412	Coil 2.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.H412Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TTCTTCACATGTGCGATCTCC	0.587																																							uc001sat.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1234-1236)CAT>TAT		keratin 2							103.0	59.0	74.0					12																	53041528		2203	4300	6503	SO:0001583	missense	3849				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:53041528G>A		CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.1234C>T	12.37:g.53041528G>A	ENSP00000310861:p.His412Tyr						p.H412Y	NM_000423	NP_000414	P35908	K22E_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.19)	6	1267	-			412			Coil 2.|Rod.		Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	c.1234C>T	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.419706	0.42918	.	.	ENSG00000172867	ENST00000309680	D	0.88354	-2.37	4.76	4.76	0.60689	Filament (1);	.	.	.	.	D	0.90882	0.7135	L	0.49350	1.555	0.19300	N	0.999975	D	0.58970	0.984	P	0.58780	0.845	D	0.83812	0.0242	9	0.87932	D	0	.	11.5713	0.50834	0.0:0.0:0.6936:0.3064	.	412	P35908	K22E_HUMAN	Y	412	ENSP00000310861:H412Y	ENSP00000310861:H412Y	H	-	1	0	KRT2	51327795	0.000000	0.05858	0.681000	0.30009	0.242000	0.25591	-0.036000	0.12185	2.373000	0.80994	0.455000	0.32223	CAT		0.587	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1	NM_000423		5	26	0	0	0	0.001168	0	5	26				
KRT4	3851	broad.mit.edu	37	12	53202170	53202170	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:53202170C>A	ENST00000551956.1	-	6	1525	c.1033G>T	c.(1033-1035)Ggt>Tgt	p.G345C	KRT4_ENST00000458244.2_Missense_Mutation_p.G325C|KRT4_ENST00000293774.4_Missense_Mutation_p.G419C			P19013	K2C4_HUMAN	keratin 4	359	Coil 2.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.G419C(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AGGTTGTCACCATGTTGGTCA	0.507																																					Pancreas(190;284 2995 41444 45903)	Pancreas(190;284 2995 41444 45903)	uc001saz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1255-1257)GGT>TGT		keratin 4							113.0	115.0	114.0					12																	53202170		2194	4299	6493	SO:0001583	missense	3851					keratin filament	structural molecule activity	g.chr12:53202170C>A		CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.1033G>T	12.37:g.53202170C>A	ENSP00000448220:p.Gly345Cys						p.G419C	NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN			6	1526	-			345					F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	ENST00000551956.1	37	c.1255G>T	CCDS41787.2	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911271	0.52439	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	T;T;T	0.75938	-0.98;-0.98;-0.98	5.47	5.47	0.80525	Filament (1);	0.000000	0.48767	D	0.000174	D	0.89550	0.6747	H	0.95816	3.725	0.49483	D	0.999798	D	0.67145	0.996	D	0.68039	0.955	D	0.91611	0.5303	10	0.56958	D	0.05	.	15.4217	0.75018	0.1474:0.8526:0.0:0.0	.	359	P19013	K2C4_HUMAN	C	345;419;325	ENSP00000448220:G345C;ENSP00000293774:G419C;ENSP00000387904:G325C	ENSP00000293774:G419C	G	-	1	0	KRT4	51488437	0.582000	0.26749	0.968000	0.41197	0.233000	0.25261	1.711000	0.37930	2.746000	0.94184	0.561000	0.74099	GGT		0.507	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272		22	96	1	0	1.50039e-11	0.012319	2.25707e-11	22	96				
EIF4B	1975	broad.mit.edu	37	12	53431372	53431372	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:53431372C>G	ENST00000262056.9	+	11	1812	c.1486C>G	c.(1486-1488)Cag>Gag	p.Q496E	RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000546566.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.Q457E|RP11-983P16.4_ENST00000550601.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.Q501E	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	496					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)	p.Q496E(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TGCTCGATCTCAGAGCTCAGA	0.478																																							uc001sbh.3		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|kidney(1)	2						c.(1486-1488)CAG>GAG		eukaryotic translation initiation factor 4B							49.0	46.0	47.0					12																	53431372		1917	4136	6053	SO:0001583	missense	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53431372C>G	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.1486C>G	12.37:g.53431372C>G	ENSP00000262056:p.Gln496Glu					EIF4B_uc010snu.1_Missense_Mutation_p.Q501E|EIF4B_uc010snv.1_Missense_Mutation_p.Q457E|EIF4B_uc001sbi.2_Missense_Mutation_p.Q248E	p.Q496E	NM_001417	NP_001408	P23588	IF4B_HUMAN			11	1692	+			496					Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Missense_Mutation	SNP	ENST00000262056.9	37	c.1486C>G	CCDS41788.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573918	0.45902	.	.	ENSG00000063046	ENST00000262056;ENST00000420463;ENST00000430205;ENST00000416762	T;T	0.41065	1.02;1.01	5.18	5.18	0.71444	.	0.351004	0.29480	N	0.012026	T	0.43233	0.1238	L	0.46157	1.445	0.28599	N	0.909271	P;P;B;P	0.49185	0.907;0.92;0.068;0.85	P;B;B;B	0.47430	0.547;0.345;0.029;0.345	T	0.32851	-0.9891	10	0.15066	T	0.55	.	17.0074	0.86397	0.0:1.0:0.0:0.0	.	457;501;472;496	B4DS13;E7EX17;E7EPC9;P23588	.;.;.;IF4B_HUMAN	E	496;501;472;457	ENSP00000262056:Q496E;ENSP00000388806:Q501E	ENSP00000262056:Q496E	Q	+	1	0	EIF4B	51717639	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.261000	0.58841	2.805000	0.96524	0.460000	0.39030	CAG		0.478	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		3	36	0	0	0	0.000602	0	3	36				
OR6C2	341416	broad.mit.edu	37	12	55846199	55846199	+	Missense_Mutation	SNP	G	G	C	rs201008141		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:55846199G>C	ENST00000322678.1	+	1	202	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	68					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E68Q(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TTCCTTCTTAGAAGTCTCATT	0.388																																							uc001sgz.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(202-204)GAA>CAA		olfactory receptor, family 6, subfamily C,							101.0	105.0	104.0					12																	55846199		2203	4300	6503	SO:0001583	missense	341416				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55846199G>C	AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.202G>C	12.37:g.55846199G>C	ENSP00000323606:p.Glu68Gln						p.E68Q	NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN			1	202	+			68			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000322678.1	37	c.202G>C	CCDS31824.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.141533	0.37825	.	.	ENSG00000179695	ENST00000322678	T	0.00444	7.4	5.42	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000013	T	0.01124	0.0037	M	0.90425	3.115	0.09310	N	0.999991	D	0.60160	0.987	P	0.55455	0.776	T	0.22138	-1.0225	10	0.72032	D	0.01	.	12.8115	0.57641	0.079:0.0:0.921:0.0	.	68	Q9NZP2	OR6C2_HUMAN	Q	68	ENSP00000323606:E68Q	ENSP00000323606:E68Q	E	+	1	0	OR6C2	54132466	0.994000	0.37717	0.592000	0.28758	0.013000	0.08279	4.524000	0.60552	1.527000	0.49086	0.609000	0.83330	GAA		0.388	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406676.1	NM_054105		4	149	0	0	0	0.000602	0	4	149				
KIF5A	3798	broad.mit.edu	37	12	57958726	57958726	+	Silent	SNP	C	C	T	rs143178113		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:57958726C>T	ENST00000455537.2	+	6	745	c.471C>T	c.(469-471)caC>caT	p.H157H	KIF5A_ENST00000286452.5_Silent_p.H68H	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	157	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.H157H(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TGTCCGTGCACGAGGACAAGA	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		20414	0.0		0.001	False		,,,				2504	0.0						uc001sor.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(469-471)CAC>CAT		kinesin family member 5A		C		0,4406		0,0,2203	143.0	112.0	123.0		471	-5.5	0.8	12	dbSNP_134	123	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KIF5A	NM_004984.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		157/1033	57958726	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57958726C>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.471C>T	12.37:g.57958726C>T						KIF5A_uc010srr.1_Silent_p.H68H	p.H157H	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			6	679	+			157			Kinesin-motor.		A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.471C>T	CCDS8945.1																																																																																				0.532	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		5	45	0	0	0	0.000602	0	5	45				
PTPRB	5787	broad.mit.edu	37	12	70928675	70928675	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:70928675G>T	ENST00000261266.5	-	28	5517	c.5488C>A	c.(5488-5490)Ctg>Atg	p.L1830M	RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000451516.2_Missense_Mutation_p.L1740M|PTPRB_ENST00000550857.1_Missense_Mutation_p.L1740M|PTPRB_ENST00000550358.1_Missense_Mutation_p.L1960M|PTPRB_ENST00000334414.6_Missense_Mutation_p.L2048M|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.L1740M	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1830	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L1830M(2)|p.L2048M(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCATCTGCAGGATGAGGTCC	0.502																																							uc001swb.3		NA																	3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(5488-5490)CTG>ATG		protein tyrosine phosphatase, receptor type, B							73.0	71.0	72.0					12																	70928675		1958	4151	6109	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70928675G>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5488C>A	12.37:g.70928675G>T	ENSP00000261266:p.Leu1830Met					uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.L1740M|PTPRB_uc010stp.1_Missense_Mutation_p.L1740M|PTPRB_uc001swc.3_Missense_Mutation_p.L2048M|PTPRB_uc001swa.3_Missense_Mutation_p.L1960M	p.L1830M	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		28	5518	-	Renal(347;0.236)		1830			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.5488C>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831890	0.71258	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71	5.5	4.55	0.56014	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.133315	0.49305	D	0.000144	T	0.31136	0.0787	M	0.81497	2.545	0.42323	D	0.992269	P;P;D;D;P	0.56035	0.954;0.954;0.974;0.963;0.92	P;P;P;P;P	0.54238	0.68;0.68;0.746;0.713;0.68	T	0.07046	-1.0793	10	0.87932	D	0	.	13.0169	0.58762	0.0:0.3789:0.6211:0.0	.	1740;1740;2048;1830;1960	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	M	2048;1740;1960;1740;1740;1830	ENSP00000334928:L2048M;ENSP00000393028:L1740M;ENSP00000448058:L1960M;ENSP00000438927:L1740M;ENSP00000447302:L1740M;ENSP00000261266:L1830M	ENSP00000261266:L1830M	L	-	1	2	PTPRB	69214942	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.634000	0.54302	2.735000	0.93741	0.655000	0.94253	CTG		0.502	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			14	49	1	0	4.7546e-09	0.004007	6.62725e-09	14	49				
ZFC3H1	196441	broad.mit.edu	37	12	72057219	72057219	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:72057219G>A	ENST00000378743.3	-	1	530	c.172C>T	c.(172-174)Cct>Tct	p.P58S	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.P58S|THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.P58S|ZFC3H1_ENST00000549407.1_5'Flank	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	58	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.P58S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCGAGTGAGGAGGCCTTCGC	0.632											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001swo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(172-174)CCT>TCT		proline/serine-rich coiled-coil 2							41.0	51.0	48.0					12																	72057219		2042	4188	6230	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057219G>A	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.172C>T	12.37:g.72057219G>A	ENSP00000368017:p.Pro58Ser		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	ZFC3H1_uc010sts.1_Missense_Mutation_p.P58S|ZFC3H1_uc001swp.2_Missense_Mutation_p.P58S|THAP2_uc001swq.2_5'Flank	p.P58S	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			1	531	-			58			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.172C>T	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643026	0.67244	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.32988	1.43	4.66	4.66	0.58398	.	0.310293	0.23694	N	0.045485	T	0.24699	0.0599	N	0.14661	0.345	0.80722	D	1	P;P;P	0.48998	0.918;0.755;0.7	P;P;B	0.45310	0.476;0.476;0.197	T	0.07578	-1.0765	10	0.54805	T	0.06	.	15.8933	0.79318	0.0:0.0:1.0:0.0	.	58;58;58	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	S	58	ENSP00000368017:P58S	ENSP00000368017:P58S	P	-	1	0	ZFC3H1	70343486	0.999000	0.42202	0.995000	0.50966	0.977000	0.68977	2.343000	0.44001	2.427000	0.82271	0.455000	0.32223	CCT		0.632	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		4	83	0	0	0	0.009096	0	4	83				
TPH2	121278	broad.mit.edu	37	12	72335436	72335436	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:72335436G>C	ENST00000333850.3	+	2	319	c.178G>C	c.(178-180)Gaa>Caa	p.E60Q	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	60					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.E60Q(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AGCTGCTACCGAAAGTGGCAA	0.408																																							uc009zrw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(178-180)GAA>CAA		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						112.0	109.0	110.0					12																	72335436		2203	4300	6503	SO:0001583	missense	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72335436G>C	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.178G>C	12.37:g.72335436G>C	ENSP00000329093:p.Glu60Gln					TPH2_uc001swy.2_5'UTR	p.E60Q	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN			2	319	+			60					A6NGA4|Q14CB0	Missense_Mutation	SNP	ENST00000333850.3	37	c.178G>C	CCDS31859.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159136	0.57368	.	.	ENSG00000139287	ENST00000333850;ENST00000266669	D	0.98362	-4.89	5.91	5.91	0.95273	.	0.220254	0.46145	D	0.000302	D	0.95130	0.8422	N	0.19112	0.55	0.58432	D	0.999998	B	0.33413	0.411	B	0.27170	0.077	D	0.93364	0.6729	10	0.30854	T	0.27	-19.8846	20.3011	0.98612	0.0:0.0:1.0:0.0	.	60	Q8IWU9	TPH2_HUMAN	Q	60	ENSP00000329093:E60Q	ENSP00000266669:E60Q	E	+	1	0	TPH2	70621703	1.000000	0.71417	0.462000	0.27118	0.112000	0.19704	6.717000	0.74707	2.804000	0.96469	0.650000	0.86243	GAA		0.408	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		8	56	0	0	0	0.00308	0	8	56				
NAV3	89795	broad.mit.edu	37	12	78513135	78513135	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:78513135C>T	ENST00000397909.2	+	15	3332	c.3159C>T	c.(3157-3159)ccC>ccT	p.P1053P	NAV3_ENST00000228327.6_Silent_p.P1053P|NAV3_ENST00000536525.2_Silent_p.P1053P|NAV3_ENST00000266692.7_Silent_p.P1053P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1053	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.P1053P(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAAGCCCCCCTCAGGCATTG	0.478										HNSCC(70;0.22)																													uc001syp.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(3157-3159)CCC>CCT		neuron navigator 3							79.0	80.0	79.0					12																	78513135		1897	4113	6010	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78513135C>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.3159C>T	12.37:g.78513135C>T		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.P1053P|NAV3_uc010sub.1_Silent_p.P553P|NAV3_uc009zsf.2_Silent_p.P61P	p.P1053P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			15	3332	+			1053			Ser-rich.		Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.3159C>T		.	.	.	.	.	.	.	.	.	.	C	8.354	0.831575	0.16820	.	.	ENSG00000067798	ENST00000552895	.	.	.	6.0	-3.03	0.05429	.	.	.	.	.	T	0.36908	0.0984	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36311	-0.9753	4	.	.	.	-17.9093	0.738	0.00968	0.2749:0.3233:0.1803:0.2215	.	.	.	.	F	125	.	.	L	+	1	0	NAV3	77037266	0.002000	0.14202	0.983000	0.44433	0.918000	0.54935	-1.317000	0.02707	-0.149000	0.11215	-0.136000	0.14681	CTC		0.478	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		27	87	0	0	0	0.005443	0	27	87				
MYF5	4617	broad.mit.edu	37	12	81112769	81112769	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:81112769C>A	ENST00000228644.3	+	3	859	c.707C>A	c.(706-708)aCc>aAc	p.T236N		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	236					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.T236N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GTTGCCAGCACCGATTCACAG	0.507																																							uc001szg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(706-708)ACC>AAC		myogenic factor 5							94.0	89.0	91.0					12																	81112769		2203	4300	6503	SO:0001583	missense	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81112769C>A		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.707C>A	12.37:g.81112769C>A	ENSP00000228644:p.Thr236Asn						p.T236N	NM_005593	NP_005584	P13349	MYF5_HUMAN			3	842	+			236					Q6ISR9	Missense_Mutation	SNP	ENST00000228644.3	37	c.707C>A	CCDS9020.1	.	.	.	.	.	.	.	.	.	.	C	5.596	0.294820	0.10567	.	.	ENSG00000111049	ENST00000228644	D	0.98419	-4.92	6.06	5.14	0.70334	.	0.579853	0.18849	N	0.129449	D	0.95532	0.8548	L	0.39898	1.24	0.33651	D	0.608448	B	0.16802	0.019	B	0.11329	0.006	D	0.94993	0.8136	10	0.16896	T	0.51	-3.5133	12.342	0.55099	0.0:0.913:0.0:0.087	.	236	P13349	MYF5_HUMAN	N	236	ENSP00000228644:T236N	ENSP00000228644:T236N	T	+	2	0	MYF5	79636900	0.021000	0.18746	0.736000	0.30914	0.259000	0.26198	0.962000	0.29280	1.479000	0.48272	0.655000	0.94253	ACC		0.507	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		12	91	1	0	2.27111e-07	0.001368	2.98996e-07	12	91				
CCER1	196477	broad.mit.edu	37	12	91348087	91348087	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:91348087G>A	ENST00000358859.2	-	1	866	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	145								p.R145C(1)									CGGCCTCTGCGGCCCCAGCGC	0.697																																							uc001tbj.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(433-435)CGC>TGC		hypothetical protein LOC196477							14.0	17.0	16.0					12																	91348087		2193	4289	6482	SO:0001583	missense	196477							g.chr12:91348087G>A	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.433C>T	12.37:g.91348087G>A	ENSP00000351727:p.Arg145Cys						p.R145C	NM_152638	NP_689851	Q8TC90	CL012_HUMAN			1	867	-			145					Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.433C>T	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860699	0.71834	.	.	ENSG00000197651	ENST00000358859	T	0.39056	1.1	4.62	3.68	0.42216	.	0.000000	0.35040	N	0.003496	T	0.48892	0.1525	L	0.29908	0.895	0.43988	D	0.996686	D	0.89917	1.0	D	0.97110	1.0	T	0.50180	-0.8858	10	0.87932	D	0	-17.4815	10.0934	0.42460	0.0:0.0:0.8014:0.1986	.	145	Q8TC90	CL012_HUMAN	C	145	ENSP00000351727:R145C	ENSP00000351727:R145C	R	-	1	0	C12orf12	89872218	0.988000	0.35896	0.999000	0.59377	0.927000	0.56198	2.381000	0.44336	2.376000	0.81061	0.462000	0.41574	CGC		0.697	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638		3	25	0	0	0	0.004672	0	3	25				
CCDC38	120935	broad.mit.edu	37	12	96292380	96292380	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:96292380C>A	ENST00000344280.3	-	6	1056	c.499G>T	c.(499-501)Gaa>Taa	p.E167*	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	167								p.E167*(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGTCATTTTCTCGAAGGAAC	0.393																																							uc001tek.1		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(499-501)GAA>TAA		coiled-coil domain containing 38							167.0	161.0	163.0					12																	96292380		2203	4300	6503	SO:0001587	stop_gained	120935							g.chr12:96292380C>A	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.499G>T	12.37:g.96292380C>A	ENSP00000345470:p.Glu167*						p.E167*	NM_182496	NP_872302	Q502W7	CCD38_HUMAN			6	733	-			167			Potential.		Q8N835	Nonsense_Mutation	SNP	ENST00000344280.3	37	c.499G>T	CCDS9056.1	.	.	.	.	.	.	.	.	.	.	C	41	8.593311	0.98877	.	.	ENSG00000165972	ENST00000344280	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-35.6749	16.6669	0.85255	0.0:1.0:0.0:0.0	.	.	.	.	X	167	.	ENSP00000345470:E167X	E	-	1	0	CCDC38	94816511	1.000000	0.71417	1.000000	0.80357	0.355000	0.29361	4.209000	0.58493	2.667000	0.90743	0.491000	0.48974	GAA		0.393	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496		28	124	1	0	3.65163e-15	0.00632	5.89227e-15	28	124				
CCDC38	120935	broad.mit.edu	37	12	96292419	96292419	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:96292419G>T	ENST00000344280.3	-	6	1017	c.460C>A	c.(460-462)Ctc>Atc	p.L154I	SNRPF_ENST00000552085.1_Intron	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	154								p.L154I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCATCTTGGAGCTTTTTCTCT	0.403																																							uc001tek.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(460-462)CTC>ATC		coiled-coil domain containing 38							189.0	176.0	181.0					12																	96292419		2203	4300	6503	SO:0001583	missense	120935							g.chr12:96292419G>T	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.460C>A	12.37:g.96292419G>T	ENSP00000345470:p.Leu154Ile						p.L154I	NM_182496	NP_872302	Q502W7	CCD38_HUMAN			6	694	-			154			Potential.		Q8N835	Missense_Mutation	SNP	ENST00000344280.3	37	c.460C>A	CCDS9056.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002395	0.54254	.	.	ENSG00000165972	ENST00000344280	T	0.22336	1.96	5.66	5.66	0.87406	.	0.070343	0.56097	D	0.000021	T	0.53594	0.1806	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56798	-0.7919	10	0.42905	T	0.14	-11.3491	16.6669	0.85255	0.0:0.0:1.0:0.0	.	154	Q502W7	CCD38_HUMAN	I	154	ENSP00000345470:L154I	ENSP00000345470:L154I	L	-	1	0	CCDC38	94816550	1.000000	0.71417	0.996000	0.52242	0.016000	0.09150	5.311000	0.65786	2.667000	0.90743	0.491000	0.48974	CTC		0.403	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496		34	91	1	0	2.80507e-11	0.012213	4.1776e-11	34	91				
ANKS1B	56899	broad.mit.edu	37	12	99898273	99898273	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:99898273C>A	ENST00000547776.2	-	10	1418	c.1419G>T	c.(1417-1419)agG>agT	p.R473S	ANKS1B_ENST00000329257.7_Missense_Mutation_p.R473S|ANKS1B_ENST00000547010.1_Missense_Mutation_p.R53S	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	473						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.R473S(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGGAAGGTGCCCTTGCAATTT	0.383																																							uc001tge.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1417-1419)AGG>AGT		cajalin 2 isoform a							90.0	90.0	90.0					12																	99898273		1861	4104	5965	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99898273C>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1419G>T	12.37:g.99898273C>A	ENSP00000449629:p.Arg473Ser					ANKS1B_uc001tgf.1_Missense_Mutation_p.R53S|ANKS1B_uc009ztt.1_Missense_Mutation_p.R439S	p.R473S	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	10	1836	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	473					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.1419G>T	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109530	0.37242	.	.	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.60171	1.02;0.21;1.02;0.85	5.58	1.5	0.22942	.	0.295715	0.32134	N	0.006533	T	0.42177	0.1191	L	0.36672	1.1	0.80722	D	1	P;P;P	0.44816	0.844;0.73;0.808	B;B;B	0.41202	0.277;0.35;0.112	T	0.11941	-1.0567	9	.	.	.	-2.4139	6.9889	0.24743	0.0:0.4549:0.0:0.5451	.	439;53;473	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	S	473;53;473;52;439	ENSP00000449629:R473S;ENSP00000448512:R53S;ENSP00000331381:R473S;ENSP00000449894:R439S	.	R	-	3	2	ANKS1B	98422404	0.981000	0.34729	1.000000	0.80357	0.982000	0.71751	-0.010000	0.12743	0.241000	0.21283	0.650000	0.86243	AGG		0.383	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		22	69	1	0	2.52088e-20	0.00278	4.33574e-20	22	69				
ANO4	121601	broad.mit.edu	37	12	101520766	101520766	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:101520766A>G	ENST00000392977.3	+	27	2996	c.2786A>G	c.(2785-2787)tAt>tGt	p.Y929C	ANO4_ENST00000550015.1_Missense_Mutation_p.Y449C|ANO4_ENST00000299222.9_Missense_Mutation_p.Y449C|ANO4_ENST00000392979.3_Missense_Mutation_p.Y894C			Q32M45	ANO4_HUMAN	anoctamin 4	929					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.Y894C(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAGATGATGTATGAAGCAGAA	0.453										HNSCC(74;0.22)																													uc010svm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(2785-2787)TAT>TGT		anoctamin 4							130.0	103.0	112.0					12																	101520766		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101520766A>G	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2786A>G	12.37:g.101520766A>G	ENSP00000376703:p.Tyr929Cys	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.Y894C|ANO4_uc001thx.2_Missense_Mutation_p.Y929C|ANO4_uc001thy.2_Missense_Mutation_p.Y449C	p.Y929C	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			27	3358	+			929			Extracellular (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2786A>G		.	.	.	.	.	.	.	.	.	.	A	22.6	4.312669	0.81358	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.69561	-0.4;-0.25;-0.41;-0.25	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	T	0.72811	0.3507	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.994;0.999	T	0.74951	-0.3489	10	0.51188	T	0.08	.	16.0416	0.80687	1.0:0.0:0.0:0.0	.	449;929;894	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	C	894;449;929;449	ENSP00000376705:Y894C;ENSP00000299222:Y449C;ENSP00000376703:Y929C;ENSP00000450192:Y449C	ENSP00000299222:Y449C	Y	+	2	0	ANO4	100044897	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.283000	0.95860	2.235000	0.73313	0.533000	0.62120	TAT		0.453	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		12	30	0	0	0	0.001368	0	12	30				
GLT8D2	83468	broad.mit.edu	37	12	104397019	104397019	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:104397019C>A	ENST00000360814.4	-	5	583	c.178G>T	c.(178-180)Ggg>Tgg	p.G60W	GLT8D2_ENST00000546436.1_Missense_Mutation_p.G60W|GLT8D2_ENST00000548660.1_Missense_Mutation_p.G60W	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	60						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.G60W(2)		kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CCCATCCTCCCTGCTGCAGCA	0.473																																							uc001tkh.1		NA																	2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(1)|skin(1)	2						c.(178-180)GGG>TGG		glycosyltransferase 8 domain containing 2							210.0	172.0	185.0					12																	104397019		2203	4300	6503	SO:0001583	missense	83468					integral to membrane	transferase activity, transferring glycosyl groups	g.chr12:104397019C>A	BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.178G>T	12.37:g.104397019C>A	ENSP00000354053:p.Gly60Trp					GLT8D2_uc001tki.1_Missense_Mutation_p.G60W	p.G60W	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN			5	584	-			60			Lumenal (Potential).		Q96KA2	Missense_Mutation	SNP	ENST00000360814.4	37	c.178G>T	CCDS9096.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310616	0.81358	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.42900	0.96;0.96;0.96	5.73	5.73	0.89815	.	0.222920	0.46442	D	0.000288	T	0.43188	0.1236	N	0.14661	0.345	0.80722	D	1	D	0.69078	0.997	P	0.60173	0.87	T	0.45556	-0.9253	10	0.87932	D	0	.	12.8167	0.57669	0.0:0.9246:0.0:0.0754	.	60	Q9H1C3	GL8D2_HUMAN	W	60	ENSP00000354053:G60W;ENSP00000449750:G60W;ENSP00000447450:G60W	ENSP00000354053:G60W	G	-	1	0	GLT8D2	102921149	0.998000	0.40836	0.939000	0.37840	0.959000	0.62525	4.379000	0.59575	2.709000	0.92574	0.563000	0.77884	GGG		0.473	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1	NM_031302		24	135	1	0	1.1804e-14	0.003954	1.88143e-14	24	135				
BTBD11	121551	broad.mit.edu	37	12	108010866	108010866	+	Splice_Site	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:108010866C>A	ENST00000280758.5	+	8	2530	c.2002C>A	c.(2002-2004)Ctc>Atc	p.L668I	BTBD11_ENST00000420571.2_Splice_Site_p.L668I|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Splice_Site_p.L668I|BTBD11_ENST00000357167.4_Splice_Site_p.L205I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	668						integral component of membrane (GO:0016021)		p.L668I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCCTCTGCAGCTCCTCCTGGA	0.587																																							uc001tmk.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2002-2004)CTC>ATC		BTB (POZ) domain containing 11 isoform a							110.0	98.0	102.0					12																	108010866		2203	4300	6503	SO:0001630	splice_region_variant	121551					integral to membrane	DNA binding	g.chr12:108010866C>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2002-1C>A	12.37:g.108010866C>A						BTBD11_uc009zut.1_Missense_Mutation_p.L668I|BTBD11_uc001tmj.2_Missense_Mutation_p.L668I|BTBD11_uc001tml.1_Missense_Mutation_p.L205I	p.L668I	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			8	2523	+			668			ANK 2.		A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	ENST00000280758.5	37	c.2002C>A	CCDS31893.1	.	.	.	.	.	.	.	.	.	.	C	15.68	2.905401	0.52333	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	T;T;T;T	0.69040	-0.32;-0.37;-0.32;-0.32	5.27	5.27	0.74061	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.71517	0.3349	L	0.33245	0.995	0.80722	D	1	D;D;D;D	0.89917	0.996;0.979;0.999;1.0	D;D;D;D	0.91635	0.986;0.982;0.994;0.999	T	0.69533	-0.5120	9	.	.	.	.	11.9254	0.52817	0.0:0.8737:0.0:0.1263	.	668;205;668;668	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	I	668;668;668;205	ENSP00000280758:L668I;ENSP00000413889:L668I;ENSP00000447319:L668I;ENSP00000349690:L205I	.	L	+	1	0	BTBD11	106534996	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	2.453000	0.44970	2.454000	0.82982	0.655000	0.94253	CTC		0.587	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322	Missense_Mutation	13	85	1	0	2.61681e-11	0.00245	3.90838e-11	13	85				
CMKLR1	1240	broad.mit.edu	37	12	108685637	108685637	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:108685637C>A	ENST00000312143.7	-	3	1466	c.1103G>T	c.(1102-1104)aGg>aTg	p.R368M	CMKLR1_ENST00000552995.1_Missense_Mutation_p.R366M|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R368M|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R368M|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R366M	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	368					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.R366M(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GCCGGTCTCCCTCTCATTCAT	0.478																																							uc009zuw.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|pancreas(1)	5						c.(1102-1104)AGG>ATG		chemokine-like receptor 1 isoform a							126.0	130.0	129.0					12																	108685637		1929	4133	6062	SO:0001583	missense	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108685637C>A	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.1103G>T	12.37:g.108685637C>A	ENSP00000311733:p.Arg368Met					CMKLR1_uc001tmw.2_Missense_Mutation_p.R368M|CMKLR1_uc001tmv.2_Missense_Mutation_p.R366M|CMKLR1_uc009zuv.2_Missense_Mutation_p.R368M	p.R368M	NM_001142345	NP_001135817	Q99788	CML1_HUMAN			3	1294	-			368			Cytoplasmic (Potential).		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.1103G>T	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	C	7.596	0.671741	0.14776	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.70282	-0.47;-0.47;-0.46;-0.46;-0.47	5.18	-1.29	0.09288	.	1.299820	0.05594	U	0.575125	T	0.54159	0.1841	N	0.08118	0	0.21933	N	0.99947	P	0.39576	0.679	B	0.41723	0.365	T	0.50092	-0.8868	10	0.49607	T	0.09	.	10.275	0.43504	0.0:0.3634:0.0:0.6366	.	368	Q99788	CML1_HUMAN	M	368;368;366;366;368	ENSP00000311733:R368M;ENSP00000401293:R368M;ENSP00000380803:R366M;ENSP00000447579:R366M;ENSP00000449716:R368M	ENSP00000311733:R368M	R	-	2	0	CMKLR1	107209767	0.059000	0.20769	0.733000	0.30861	0.047000	0.14425	-0.024000	0.12435	-0.657000	0.05373	-0.265000	0.10407	AGG		0.478	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			31	121	1	0	8.4185e-14	0.012213	1.31966e-13	31	121				
DAO	1610	broad.mit.edu	37	12	109294182	109294182	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:109294182C>A	ENST00000228476.3	+	11	1119	c.915C>A	c.(913-915)gtC>gtA	p.V305V	DAO_ENST00000551281.1_Silent_p.V239V	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	305					cellular nitrogen compound metabolic process (GO:0034641)|D-alanine catabolic process (GO:0055130)|D-serine catabolic process (GO:0036088)|D-serine metabolic process (GO:0070178)|dopamine biosynthetic process (GO:0042416)|glyoxylate metabolic process (GO:0046487)|leucine metabolic process (GO:0006551)|proline catabolic process (GO:0006562)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-amino-acid oxidase activity (GO:0003884)|FAD binding (GO:0071949)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)	p.V305V(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26					Flavin adenine dinucleotide(DB03147)	TCTCCTAGGTCATCCACAACT	0.552																																							uc001tnr.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(913-915)GTC>GTA		D-amino-acid oxidase							106.0	92.0	97.0					12																	109294182		2203	4300	6503	SO:0001819	synonymous_variant	1610				glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	g.chr12:109294182C>A	D11370	CCDS9122.1	12q24.11	2013-09-20			ENSG00000110887	ENSG00000110887	1.4.3.3		2671	protein-coding gene	gene with protein product		124050				1356107, 8182053	Standard	NM_001917		Approved	DAMOX	uc001tnr.4	P14920	OTTHUMG00000169360	ENST00000228476.3:c.915C>A	12.37:g.109294182C>A						DAO_uc001tnq.3_Silent_p.V239V|DAO_uc009zvb.2_RNA|DAO_uc001tns.3_RNA	p.V305V	NM_001917	NP_001908	P14920	OXDA_HUMAN			11	1068	+			305					B2R7I5|Q16758|Q8N6R2	Silent	SNP	ENST00000228476.3	37	c.915C>A	CCDS9122.1																																																																																				0.552	DAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403682.1			16	60	1	0	1.99824e-07	0.00499	2.63737e-07	16	60				
MAPKAPK5	8550	broad.mit.edu	37	12	112308955	112308955	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:112308955C>G	ENST00000551404.2	+	7	658	c.550C>G	c.(550-552)Cag>Gag	p.Q184E	MAPKAPK5_ENST00000550735.2_Missense_Mutation_p.Q184E			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	184	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)	p.Q184E(2)		endometrium(1)|lung(11)|ovary(1)	13						GATGACACCCCAGTTCACCCC	0.458																																							uc001tta.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)	3						c.(550-552)CAG>GAG		MAP kinase-activated protein kinase 5 isoform 2							171.0	169.0	170.0					12																	112308955		1955	4146	6101	SO:0001583	missense	8550				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity	g.chr12:112308955C>G	AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.550C>G	12.37:g.112308955C>G	ENSP00000449381:p.Gln184Glu					MAPKAPK5_uc001tsz.2_Missense_Mutation_p.Q184E|MAPKAPK5_uc001ttb.2_Missense_Mutation_p.Q117E	p.Q184E	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN			7	809	+			184			Protein kinase.		B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	Missense_Mutation	SNP	ENST00000551404.2	37	c.550C>G	CCDS44975.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.084591	0.76642	.	.	ENSG00000089022	ENST00000550735;ENST00000202788;ENST00000428907;ENST00000551404	T;T	0.64618	-0.11;-0.11	5.37	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61350	0.2340	N	0.20881	0.62	0.80722	D	1	P;P;P	0.47034	0.888;0.889;0.75	P;P;B	0.53988	0.739;0.682;0.373	T	0.65496	-0.6154	10	0.62326	D	0.03	.	14.0303	0.64610	0.0:0.9271:0.0:0.0729	.	178;184;184	C9J458;Q8IW41;Q8IW41-2	.;MAPK5_HUMAN;.	E	184	ENSP00000449667:Q184E;ENSP00000449381:Q184E	ENSP00000202788:Q184E	Q	+	1	0	MAPKAPK5	110793338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	1.268000	0.44264	0.563000	0.77884	CAG		0.458	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2	NM_139078		4	122	0	0	0	0.009096	0	4	122				
RBM19	9904	broad.mit.edu	37	12	114397086	114397086	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:114397086C>A	ENST00000545145.2	-	5	580	c.502G>T	c.(502-504)Gac>Tac	p.D168Y	RBM19_ENST00000392561.3_Missense_Mutation_p.D168Y|RBM19_ENST00000261741.5_Missense_Mutation_p.D168Y	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	168					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D168Y(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TTCAGGTAGTCACTGGCCGGC	0.617																																							uc009zwi.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.(502-504)GAC>TAC		RNA binding motif protein 19							140.0	113.0	122.0					12																	114397086		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114397086C>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.502G>T	12.37:g.114397086C>A	ENSP00000442053:p.Asp168Tyr					RBM19_uc001tvn.3_Missense_Mutation_p.D168Y|RBM19_uc001tvm.2_Missense_Mutation_p.D168Y	p.D168Y	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			5	646	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		168					A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.502G>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.753418	0.89753	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.07327	3.2;3.2;3.2	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.33673	0.0871	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.08351	-1.0726	10	0.87932	D	0	-48.2117	19.2386	0.93873	0.0:1.0:0.0:0.0	.	168	Q9Y4C8	RBM19_HUMAN	Y	168	ENSP00000442053:D168Y;ENSP00000376344:D168Y;ENSP00000261741:D168Y	ENSP00000261741:D168Y	D	-	1	0	RBM19	112881469	1.000000	0.71417	0.949000	0.38748	0.799000	0.45148	7.181000	0.77682	2.543000	0.85770	0.650000	0.86243	GAC		0.617	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		22	73	1	0	2.98393e-07	0.00278	3.92346e-07	22	73				
MED13L	23389	broad.mit.edu	37	12	116420396	116420396	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:116420396C>A	ENST00000281928.3	-	22	5174	c.4968G>T	c.(4966-4968)agG>agT	p.R1656S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1656						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.R1656S(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTATTCTCTCCCTTTCTGTAA	0.458																																							uc001tvw.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(4966-4968)AGG>AGT		mediator complex subunit 13-like							75.0	65.0	69.0					12																	116420396		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116420396C>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.4968G>T	12.37:g.116420396C>A	ENSP00000281928:p.Arg1656Ser						p.R1656S	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	22	5023	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1656					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.4968G>T	CCDS9177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.97|19.97	3.925054|3.925054	0.73213|0.73213	.|.	.|.	ENSG00000123066|ENSG00000123066	ENST00000549786|ENST00000281928	.|T	.|0.75821	.|-0.97	5.87|5.87	3.01|3.01	0.34805|0.34805	.|.	.|0.044927	.|0.85682	.|D	.|0.000000	T|T	0.64204|0.64204	0.2577|0.2577	N|N	0.24115|0.24115	0.695|0.695	0.46203|0.46203	D|D	0.998929|0.998929	.|D	.|0.53151	.|0.958	.|P	.|0.47528	.|0.549	T|T	0.60601|0.60601	-0.7231|-0.7231	5|10	.|0.40728	.|T	.|0.16	.|.	10.4502|10.4502	0.44518|0.44518	0.0:0.7231:0.0:0.2769|0.0:0.7231:0.0:0.2769	.|.	.|1656	.|Q71F56	.|MD13L_HUMAN	V|S	111|1656	.|ENSP00000281928:R1656S	.|ENSP00000281928:R1656S	G|R	-|-	2|3	0|2	MED13L|MED13L	114904779|114904779	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	1.537000|1.537000	0.36083|0.36083	0.363000|0.363000	0.24346|0.24346	0.591000|0.591000	0.81541|0.81541	GGG|AGG		0.458	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			7	35	1	0	0.00307968	0.00308	0.00330101	7	35				
MED13L	23389	broad.mit.edu	37	12	116675300	116675300	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:116675300C>G	ENST00000281928.3	-	2	489	c.283G>C	c.(283-285)Gtg>Ctg	p.V95L	MED13L_ENST00000551197.1_5'UTR	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	95						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.V95L(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATTACACCCACTAGGTTGGGT	0.378																																							uc001tvw.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(283-285)GTG>CTG		mediator complex subunit 13-like							122.0	110.0	114.0					12																	116675300		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116675300C>G	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.283G>C	12.37:g.116675300C>G	ENSP00000281928:p.Val95Leu						p.V95L	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	2	338	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		95					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.283G>C	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.369034	0.61624	.	.	ENSG00000123066	ENST00000281928;ENST00000548743	T;T	0.74106	-0.81;-0.81	5.57	4.68	0.58851	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.324081	0.25789	N	0.028297	T	0.50786	0.1636	N	0.01168	-0.975	0.30058	N	0.811128	B	0.25772	0.134	B	0.30943	0.122	T	0.50508	-0.8820	10	0.28530	T	0.3	.	16.5531	0.84477	0.0:0.8693:0.1307:0.0	.	95	Q71F56	MD13L_HUMAN	L	95;85	ENSP00000281928:V95L;ENSP00000448553:V85L	ENSP00000281928:V95L	V	-	1	0	MED13L	115159683	0.782000	0.28689	0.998000	0.56505	0.950000	0.60333	2.468000	0.45102	1.347000	0.45714	0.561000	0.74099	GTG		0.378	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			31	78	0	0	0	0.008361	0	31	78				
NOS1	4842	broad.mit.edu	37	12	117768666	117768666	+	Missense_Mutation	SNP	C	C	T	rs74738204		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:117768666C>T	ENST00000338101.4	-	1	213	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	NOS1_ENST00000344089.3_Missense_Mutation_p.R70Q|NOS1_ENST00000549189.1_5'Flank|NOS1_ENST00000317775.6_Missense_Mutation_p.R70Q			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.R70Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CACCAAGGGCCGGCCGTTGAC	0.612																																					Esophageal Squamous(162;1748 2599 51982 52956)	Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(208-210)CGG>CAG		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						37.0	41.0	40.0					12																	117768666		1990	4143	6133	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117768666C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.209G>A	12.37:g.117768666C>T	ENSP00000337459:p.Arg70Gln						p.R70Q	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	2	895	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		70			Interaction with NOSIP (By similarity).|PDZ.			Missense_Mutation	SNP	ENST00000338101.4	37	c.209G>A	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189143	0.57909	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000344089;ENST00000338101	T;T;T	0.25579	1.79;1.79;1.79	4.91	3.95	0.45737	PDZ/DHR/GLGF (4);	0.170802	0.49916	N	0.000134	T	0.11879	0.0289	N	0.05351	-0.065	0.40340	D	0.979023	B	0.17667	0.023	B	0.16722	0.016	T	0.12656	-1.0539	10	0.21540	T	0.41	-13.033	8.2981	0.31997	0.0:0.8675:0.0:0.1325	.	70	P29475	NOS1_HUMAN	Q	70	ENSP00000320758:R70Q;ENSP00000339862:R70Q;ENSP00000337459:R70Q	ENSP00000320758:R70Q	R	-	2	0	NOS1	116253049	1.000000	0.71417	0.989000	0.46669	0.949000	0.60115	2.163000	0.42377	1.131000	0.42111	0.555000	0.69702	CGG		0.612	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			5	48	0	0	0	0.000602	0	5	48				
KSR2	283455	broad.mit.edu	37	12	118020147	118020147	+	Missense_Mutation	SNP	G	G	A	rs371678268		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:118020147G>A	ENST00000339824.5	-	6	1916	c.1189C>T	c.(1189-1191)Cgc>Tgc	p.R397C	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.R94C|KSR2_ENST00000425217.1_Missense_Mutation_p.R368C			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	397					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R94C(1)|p.R429C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGACCAGCGTGGCACTGAC	0.577																																							uc001two.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(1102-1104)CGC>TGC		kinase suppressor of ras 2		G	CYS/ARG	2,4216		0,2,2107	116.0	120.0	119.0		1102	4.9	1.0	12		119	0,8458		0,0,4229	no	missense	KSR2	NM_173598.4	180	0,2,6336	AA,AG,GG		0.0,0.0474,0.0158	probably-damaging	368/922	118020147	2,12674	2109	4229	6338	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:118020147G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1189C>T	12.37:g.118020147G>A	ENSP00000339952:p.Arg397Cys						p.R368C	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			6	1157	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		397					A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.1102C>T		.	.	.	.	.	.	.	.	.	.	G	17.28	3.350464	0.61183	4.74E-4	0.0	ENSG00000171435	ENST00000425217;ENST00000339824;ENST00000302438;ENST00000542378	T;T;T	0.58210	0.35;0.35;0.35	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.61438	0.2347	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.64595	0.927	T	0.63795	-0.6556	10	0.52906	T	0.07	.	16.9342	0.86199	0.0:0.0:1.0:0.0	.	397	Q6VAB6	KSR2_HUMAN	C	368;397;94;69	ENSP00000389715:R368C;ENSP00000339952:R397C;ENSP00000305466:R94C	ENSP00000305466:R94C	R	-	1	0	KSR2	116504530	1.000000	0.71417	0.970000	0.41538	0.205000	0.24178	7.083000	0.76859	2.294000	0.77228	0.313000	0.20887	CGC		0.577	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		8	107	0	0	0	0.004482	0	8	107				
KDM2B	84678	broad.mit.edu	37	12	121878685	121878685	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:121878685A>T	ENST00000377071.4	-	21	3616	c.3544T>A	c.(3544-3546)Tgg>Agg	p.W1182R	KDM2B_ENST00000542973.1_Missense_Mutation_p.W550R|KDM2B_ENST00000377069.4_Missense_Mutation_p.W1113R|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1182					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)	p.W821R(1)|p.W1182R(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCTCCACCCACTGGACATCC	0.647																																							uc001uat.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(3544-3546)TGG>AGG		F-box and leucine-rich repeat protein 10 isoform							36.0	43.0	41.0					12																	121878685		2113	4241	6354	SO:0001583	missense	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121878685A>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3544T>A	12.37:g.121878685A>T	ENSP00000366271:p.Trp1182Arg					KDM2B_uc001uaq.2_Missense_Mutation_p.W622R|KDM2B_uc010szy.1_Missense_Mutation_p.W622R|KDM2B_uc001uar.2_Missense_Mutation_p.W773R|KDM2B_uc001uas.2_Missense_Mutation_p.W1113R|KDM2B_uc001uau.2_Intron|KDM2B_uc001uao.2_Missense_Mutation_p.W430R|KDM2B_uc010szx.1_Missense_Mutation_p.W430R|KDM2B_uc001uap.2_RNA	p.W1182R	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			21	3648	-			1182			LRR 3.		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	c.3544T>A	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.949901	0.92660	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.35421	1.31;1.31;1.31	5.92	5.92	0.95590	.	0.316095	0.25130	N	0.032913	T	0.53158	0.1779	L	0.39514	1.22	0.80722	D	1	B;D;D;B	0.76494	0.182;0.999;0.999;0.182	B;D;D;B	0.85130	0.141;0.997;0.997;0.141	T	0.54576	-0.8273	10	0.87932	D	0	-24.7805	16.3648	0.83312	1.0:0.0:0.0:0.0	.	622;1182;1113;625	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	R	1170;550;1113;1182;625;1185	ENSP00000437821:W550R;ENSP00000366269:W1113R;ENSP00000366271:W1182R	ENSP00000261824:W1185R	W	-	1	0	KDM2B	120363068	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.263000	0.75096	0.533000	0.62120	TGG		0.647	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		5	57	0	0	0	0.000602	0	5	57				
RIMBP2	23504	broad.mit.edu	37	12	130907029	130907029	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:130907029C>G	ENST00000261655.4	-	13	2602	c.2439G>C	c.(2437-2439)caG>caC	p.Q813H	RP11-117L5.4_ENST00000539532.1_lincRNA	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	813					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.Q813H(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCGGGACCTCTGAGGACCAG	0.572																																							uc001uil.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(2437-2439)CAG>CAC		RIM-binding protein 2							53.0	44.0	47.0					12																	130907029		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130907029C>G	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2439G>C	12.37:g.130907029C>G	ENSP00000261655:p.Gln813His						p.Q813H	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	13	2603	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	813					Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.2439G>C	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	5.723	0.317825	0.10845	.	.	ENSG00000060709	ENST00000261655	T	0.22336	1.96	4.9	1.92	0.25849	.	1.135970	0.06532	N	0.741728	T	0.14141	0.0342	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16482	-1.0401	10	0.27785	T	0.31	-1.2764	2.9465	0.05847	0.135:0.4365:0.2837:0.1448	.	813	O15034	RIMB2_HUMAN	H	813	ENSP00000261655:Q813H	ENSP00000261655:Q813H	Q	-	3	2	RIMBP2	129472982	0.207000	0.23482	0.001000	0.08648	0.175000	0.22909	0.223000	0.17719	0.078000	0.16900	0.561000	0.74099	CAG		0.572	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		6	45	0	0	0	0.001984	0	6	45				
ULK1	8408	broad.mit.edu	37	12	132400970	132400970	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:132400970A>G	ENST00000321867.4	+	20	2257	c.1906A>G	c.(1906-1908)Acc>Gcc	p.T636A	ULK1_ENST00000540647.1_5'Flank	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	636					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)	p.T636A(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTTCCCGAAGACCCCCAGCTC	0.692																																							uc001uje.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1906-1908)ACC>GCC		Unc-51-like kinase 1							69.0	79.0	76.0					12																	132400970		2200	4299	6499	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132400970A>G	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.1906A>G	12.37:g.132400970A>G	ENSP00000324560:p.Thr636Ala						p.T636A	NM_003565	NP_003556	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	20	2174	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		636					Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.1906A>G	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.356238	0.41700	.	.	ENSG00000177169	ENST00000321867	T	0.40225	1.04	5.69	3.33	0.38152	.	0.421539	0.25789	N	0.028292	T	0.40067	0.1102	M	0.71581	2.175	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20371	-1.0277	10	0.45353	T	0.12	-16.8124	8.6508	0.34033	0.8083:0.0:0.1917:0.0	.	636	O75385	ULK1_HUMAN	A	636	ENSP00000324560:T636A	ENSP00000324560:T636A	T	+	1	0	ULK1	130966923	1.000000	0.71417	0.989000	0.46669	0.560000	0.35617	2.503000	0.45407	0.424000	0.26061	0.533000	0.62120	ACC		0.692	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			11	59	0	0	0	0.001368	0	11	59				
P2RX2	22953	broad.mit.edu	37	12	133196907	133196907	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:133196907C>A	ENST00000389110.3	+	6	646	c.609C>A	c.(607-609)atC>atA	p.I203I	P2RX2_ENST00000449132.2_Missense_Mutation_p.P168T|P2RX2_ENST00000352418.4_Silent_p.I131I|P2RX2_ENST00000350048.5_Silent_p.I179I|P2RX2_ENST00000351222.4_Silent_p.I111I|P2RX2_ENST00000343948.4_Silent_p.I203I|P2RX2_ENST00000348800.5_Silent_p.I203I	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	203					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.I203I(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		AGAACAGCATCCACTACCCCA	0.557																																							uc001ukj.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(607-609)ATC>ATA		purinergic receptor P2X2 isoform A							82.0	78.0	79.0					12																	133196907		2203	4300	6503	SO:0001819	synonymous_variant	22953				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	g.chr12:133196907C>A	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.609C>A	12.37:g.133196907C>A						P2RX2_uc001uki.1_Silent_p.I203I|P2RX2_uc001ukk.1_Silent_p.I203I|P2RX2_uc001ukl.1_Silent_p.I179I|P2RX2_uc001ukm.1_Silent_p.I131I|P2RX2_uc001ukn.1_Silent_p.I111I|P2RX2_uc009zyt.1_Silent_p.I203I|P2RX2_uc001uko.1_Missense_Mutation_p.P168T	p.I203I	NM_170682	NP_733782	Q9UBL9	P2RX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)	6	609	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)	203			Extracellular (Potential).		A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Silent	SNP	ENST00000389110.3	37	c.609C>A	CCDS31931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.87|15.87	2.962050|2.962050	0.53400|0.53400	.|.	.|.	ENSG00000187848|ENSG00000187848	ENST00000449132|ENST00000542301;ENST00000536121;ENST00000535910	T|.	0.14516|.	2.5|.	5.13|5.13	4.15|4.15	0.48705|0.48705	.|.	.|.	.|.	.|.	.|.	T|T	0.70988|0.70988	0.3287|0.3287	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.58620|.	0.983|.	P|.	0.56434|.	0.798|.	T|T	0.70934|0.70934	-0.4737|-0.4737	8|4	0.22706|.	T|.	0.39|.	-32.0155|-32.0155	15.9484|15.9484	0.79813|0.79813	0.1443:0.8557:0.0:0.0|0.1443:0.8557:0.0:0.0	.|.	168|.	Q9UBL9-7|.	.|.	T|Y	168|214;189;159	ENSP00000405531:P168T|.	ENSP00000405531:P168T|.	P|S	+|+	1|2	0|0	P2RX2|P2RX2	131706980|131706980	0.758000|0.758000	0.28405|0.28405	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.388000|0.388000	0.20735|0.20735	2.382000|2.382000	0.81193|0.81193	0.555000|0.555000	0.69702|0.69702	CCA|TCC		0.557	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397542.1			17	49	1	0	5.3912e-06	0.006122	6.62947e-06	17	49				
LATS2	26524	broad.mit.edu	37	13	21563266	21563266	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:21563266C>A	ENST00000382592.4	-	4	1058	c.653G>T	c.(652-654)gGa>gTa	p.G218V	LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Missense_Mutation_p.G218V	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.G218V(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGGGCCGACTCCGGGGAAAAG	0.721																																							uc009zzs.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1)	10						c.(652-654)GGA>GTA		LATS, large tumor suppressor, homolog 2							17.0	19.0	18.0					13																	21563266		2199	4297	6496	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21563266C>A	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.653G>T	13.37:g.21563266C>A	ENSP00000372035:p.Gly218Val					LATS2_uc001unr.3_Missense_Mutation_p.G218V	p.G218V	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	1018	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	218						Missense_Mutation	SNP	ENST00000382592.4	37	c.653G>T	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	C	7.055	0.565164	0.13498	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.36157	1.27;1.27	5.27	3.41	0.39046	.	0.189518	0.37261	N	0.002168	T	0.18215	0.0437	N	0.08118	0	0.09310	N	0.999992	B	0.10296	0.003	B	0.12837	0.008	T	0.16660	-1.0395	10	0.25751	T	0.34	.	10.6483	0.45634	0.1081:0.539:0.3529:0.0	.	218	Q9NRM7	LATS2_HUMAN	V	218	ENSP00000372035:G218V;ENSP00000441817:G218V	ENSP00000372035:G218V	G	-	2	0	LATS2	20461266	0.046000	0.20272	0.291000	0.24904	0.192000	0.23643	0.705000	0.25675	1.210000	0.43336	0.485000	0.47835	GGA		0.721	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1			4	16	1	0	0.00909568	0.009096	0.00961122	4	16				
USPL1	10208	broad.mit.edu	37	13	31233061	31233061	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:31233061C>T	ENST00000255304.4	+	9	3189	c.2847C>T	c.(2845-2847)gcC>gcT	p.A949A		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	949					Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)	p.A949A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		TTGATATTGCCAGTGAGTCTG	0.413																																					Ovarian(60;318 1180 1554 28110 31601)	Ovarian(60;318 1180 1554 28110 31601)	uc001utc.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(2)|skin(1)	3						c.(2845-2847)GCC>GCT		ubiquitin specific peptidase like 1							149.0	150.0	150.0					13																	31233061		2203	4300	6503	SO:0001819	synonymous_variant	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31233061C>T	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.2847C>T	13.37:g.31233061C>T						USPL1_uc001utd.2_Silent_p.A620A|USPL1_uc001ute.1_Silent_p.A620A	p.A949A	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	9	3279	+		Lung SC(185;0.0257)|Breast(139;0.203)	949					Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	ENST00000255304.4	37	c.2847C>T	CCDS9336.1																																																																																				0.413	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		28	124	0	0	0	0.00632	0	28	124				
STARD13	90627	broad.mit.edu	37	13	33703295	33703295	+	Missense_Mutation	SNP	C	C	G	rs568277121		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:33703295C>G	ENST00000336934.5	-	5	1635	c.1519G>C	c.(1519-1521)Gtc>Ctc	p.V507L	STARD13_ENST00000255486.4_Missense_Mutation_p.V499L|STARD13_ENST00000399365.3_Missense_Mutation_p.V389L	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	507					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.V507L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TCAGGCAAGACATCTTTGGAC	0.448																																							uc001uuw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(1519-1521)GTC>CTC		StAR-related lipid transfer (START) domain							160.0	136.0	144.0					13																	33703295		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33703295C>G	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.1519G>C	13.37:g.33703295C>G	ENSP00000338785:p.Val507Leu					STARD13_uc001uuu.2_Missense_Mutation_p.V499L|STARD13_uc001uuv.2_Missense_Mutation_p.V389L|STARD13_uc001uux.2_Missense_Mutation_p.V472L|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.V492L	p.V507L	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	5	1645	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	507					A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.1519G>C	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	C	4.881	0.163760	0.09287	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.05717	3.41;3.4;3.4	5.65	-6.21	0.02065	.	0.468550	0.24063	N	0.041891	T	0.03608	0.0103	L	0.33245	0.995	0.58432	D	0.999998	B;B;B;B	0.09022	0.002;0.001;0.0;0.0	B;B;B;B	0.12156	0.006;0.007;0.002;0.002	T	0.45877	-0.9231	10	0.11794	T	0.64	.	9.8943	0.41309	0.0:0.164:0.4104:0.4255	.	499;472;507;499	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	L	389;499;507;499	ENSP00000382300:V389L;ENSP00000255486:V499L;ENSP00000338785:V507L	ENSP00000255486:V499L	V	-	1	0	STARD13	32601295	0.000000	0.05858	0.000000	0.03702	0.110000	0.19582	-0.814000	0.04486	-1.401000	0.02058	0.563000	0.77884	GTC		0.448	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		8	98	0	0	0	0.004482	0	8	98				
CCNA1	8900	broad.mit.edu	37	13	37012872	37012872	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:37012872T>G	ENST00000255465.4	+	5	1025	c.761T>G	c.(760-762)gTt>gGt	p.V254G	CCNA1_ENST00000418263.1_Missense_Mutation_p.V253G|CCNA1_ENST00000449823.1_Missense_Mutation_p.V210G|CCNA1_ENST00000440264.1_Missense_Mutation_p.V210G			P78396	CCNA1_HUMAN	cyclin A1	254					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CTGGTGGAGGTTGGGGAAGAA	0.507																																							uc001uvr.3		NA																	0				lung(2)|skin(2)|ovary(1)	5						c.(760-762)GTT>GGT		cyclin A1 isoform a							119.0	103.0	108.0					13																	37012872		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37012872T>G	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.761T>G	13.37:g.37012872T>G	ENSP00000255465:p.Val254Gly					CCNA1_uc010teo.1_Missense_Mutation_p.V210G|CCNA1_uc010abq.2_Missense_Mutation_p.V210G|CCNA1_uc010abp.2_Missense_Mutation_p.V210G|CCNA1_uc001uvs.3_Missense_Mutation_p.V253G|CCNA1_uc010abr.2_Intron	p.V254G	NM_003914	NP_003905	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	5	1111	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	254					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.761T>G	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388123	0.82902	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.33	5.33	0.75918	Cyclin, N-terminal (2);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.64103	0.2568	H	0.99705	4.715	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82000	-0.0674	10	0.87932	D	0	.	15.6019	0.76631	0.0:0.0:0.0:1.0	.	253;254	P78396-2;P78396	.;CCNA1_HUMAN	G	210;210;253;254	ENSP00000400666:V210G;ENSP00000409873:V210G;ENSP00000396479:V253G;ENSP00000255465:V254G	ENSP00000255465:V254G	V	+	2	0	CCNA1	35910872	1.000000	0.71417	0.919000	0.36401	0.818000	0.46254	7.705000	0.84606	2.134000	0.65973	0.528000	0.53228	GTT		0.507	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		7	43	0	0	0	0.008871	0	7	43				
CTAGE11P	647288	broad.mit.edu	37	13	75814311	75814311	+	IGR	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:75814311G>T								AL162571.1 (31138 upstream) : LINC01078 (10304 downstream)																							AAAAAAAGGAGAACAACAAAA	0.418																																							uc010ths.1		NA																	0					0						c.(166-168)CTC>ATC		Homo sapiens mRNA; cDNA DKFZp434F0327 (from clone DKFZp434F0327).																																				SO:0001628	intergenic_variant	647288							g.chr13:75814311G>T																													13.37:g.75814311G>T							p.L56I	NR_027466						1	207	-									Missense_Mutation	SNP		37	c.166C>A																																																																																				0	0.418									18	81	1	0	2.94398e-08	0.007413	3.99158e-08	18	81				
EDNRB	1910	broad.mit.edu	37	13	78474043	78474043	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:78474043T>A	ENST00000334286.5	-	6	1381	c.1145A>T	c.(1144-1146)aAc>aTc	p.N382I	EDNRB_ENST00000377211.4_Missense_Mutation_p.N472I|EDNRB_ENST00000446573.1_Missense_Mutation_p.N382I	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	382					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)	p.N382I(1)|p.N472I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	AGCAATTGGGTTAATGCAGGA	0.338																																							uc001vko.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1144-1146)AAC>ATC		endothelin receptor type B isoform 1 precursor	Bosentan(DB00559)						93.0	89.0	90.0					13																	78474043		2203	4300	6503	SO:0001583	missense	1910				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	g.chr13:78474043T>A	L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.1145A>T	13.37:g.78474043T>A	ENSP00000335311:p.Asn382Ile					EDNRB_uc001vkq.1_Missense_Mutation_p.N382I|uc001vkn.1_Intron|EDNRB_uc010aez.1_Missense_Mutation_p.N382I|EDNRB_uc001vkp.1_Missense_Mutation_p.N465I	p.N382I	NM_001122659	NP_001116131	P24530	EDNRB_HUMAN		GBM - Glioblastoma multiforme(99;0.0933)	6	1403	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	382			Helical; Name=7; (Potential).		A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	c.1145A>T	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.792470	0.90453	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	D;D;D	0.96554	-4.05;-4.05;-4.05	6.06	6.06	0.98353	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98943	0.9641	H	0.97896	4.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.99425	1.0934	10	0.87932	D	0	-22.2808	16.6245	0.84952	0.0:0.0:0.0:1.0	.	382;472;382	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	I	472;382;382	ENSP00000366416:N472I;ENSP00000403401:N382I;ENSP00000335311:N382I	ENSP00000335311:N382I	N	-	2	0	EDNRB	77372044	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.040000	0.89188	2.323000	0.78572	0.528000	0.53228	AAC		0.338	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1			7	48	0	0	0	0.00308	0	7	48				
SLITRK6	84189	broad.mit.edu	37	13	86369524	86369524	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:86369524T>A	ENST00000400286.2	-	2	1718	c.1120A>T	c.(1120-1122)Att>Ttt	p.I374F		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	374					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)		p.I374F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTGTGAATAATATTTCCCGCT	0.383																																							uc001vll.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1120-1122)ATT>TTT		slit and trk like 6 precursor							76.0	71.0	72.0					13																	86369524		1834	4089	5923	SO:0001583	missense	84189					integral to membrane		g.chr13:86369524T>A	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1120A>T	13.37:g.86369524T>A	ENSP00000383143:p.Ile374Phe					SLITRK6_uc010afe.1_Missense_Mutation_p.I139F	p.I374F	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	1579	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		374			Extracellular (Potential).|LRR 6.		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.1120A>T	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	T	10.49	1.366099	0.24684	.	.	ENSG00000184564	ENST00000400286	T	0.42900	0.96	5.76	5.76	0.90799	.	0.050327	0.85682	D	0.000000	T	0.20700	0.0498	N	0.14661	0.345	0.45261	D	0.998265	P	0.40731	0.728	B	0.31946	0.138	T	0.10567	-1.0624	10	0.13470	T	0.59	-19.465	10.9815	0.47497	0.0:0.0:0.1562:0.8438	.	374	Q9H5Y7	SLIK6_HUMAN	F	374	ENSP00000383143:I374F	ENSP00000383143:I374F	I	-	1	0	SLITRK6	85267525	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.094000	0.57721	2.199000	0.70637	0.477000	0.44152	ATT		0.383	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229		8	63	0	0	0	0.004482	0	8	63				
DCT	1638	broad.mit.edu	37	13	95117945	95117945	+	Missense_Mutation	SNP	C	C	G	rs142171852	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:95117945C>G	ENST00000377028.5	-	4	1218	c.805G>C	c.(805-807)Gat>Cat	p.D269H	AL139318.1_ENST00000390768.1_RNA|DCT_ENST00000446125.1_Missense_Mutation_p.D269H|DCT_ENST00000490854.1_5'UTR	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	269					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.D269H(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGAGTCGGATCGTCTGGTCTC	0.502																																							uc001vlv.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(805-807)GAT>CAT		dopachrome tautomerase isoform 1							133.0	108.0	116.0					13																	95117945		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95117945C>G	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.805G>C	13.37:g.95117945C>G	ENSP00000366227:p.Asp269His					DCT_uc010afh.2_Missense_Mutation_p.D269H	p.D269H	NM_001922	NP_001913	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	4	1232	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	269			Lumenal, melanosome (Potential).		Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.805G>C	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378165	0.61735	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98876	-5.2;-5.2	5.95	5.95	0.96441	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.090347	0.85682	D	0.000000	D	0.99299	0.9755	M	0.92317	3.295	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	D	0.98956	1.0796	10	0.87932	D	0	-18.0186	14.5295	0.67915	0.0:0.9306:0.0:0.0694	.	269;269	Q09GT4;P40126	.;TYRP2_HUMAN	H	269	ENSP00000366227:D269H;ENSP00000392762:D269H	ENSP00000366227:D269H	D	-	1	0	DCT	93915946	0.999000	0.42202	0.999000	0.59377	0.503000	0.33858	3.927000	0.56499	2.824000	0.97209	0.655000	0.94253	GAT		0.502	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			4	47	0	0	0	0.009096	0	4	47				
NALCN	259232	broad.mit.edu	37	13	101726892	101726892	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:101726892G>T	ENST00000251127.6	-	36	4157	c.4076C>A	c.(4075-4077)aCt>aAt	p.T1359N		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1359					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.T1359N(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ATATTTCACAGTACCAAATAA	0.338																																							uc001vox.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(4075-4077)ACT>AAT		voltage gated channel like 1							87.0	87.0	87.0					13																	101726892		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101726892G>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4076C>A	13.37:g.101726892G>T	ENSP00000251127:p.Thr1359Asn						p.T1359N	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			36	4265	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1359			Extracellular (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.4076C>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521299	0.64747	.	.	ENSG00000102452	ENST00000251127	D	0.98362	-4.89	5.8	5.8	0.92144	Ion transport (1);	0.089600	0.85682	D	0.000000	D	0.95079	0.8406	N	0.08118	0	0.80722	D	1	B	0.28419	0.211	B	0.32533	0.147	D	0.92238	0.5798	10	0.37606	T	0.19	.	20.0977	0.97857	0.0:0.0:1.0:0.0	.	1359	Q8IZF0	NALCN_HUMAN	N	1359	ENSP00000251127:T1359N	ENSP00000251127:T1359N	T	-	2	0	NALCN	100524893	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.476000	0.97823	2.767000	0.95098	0.585000	0.79938	ACT		0.338	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		10	88	1	0	1.76689e-08	0.006214	2.40187e-08	10	88				
NALCN	259232	broad.mit.edu	37	13	101756713	101756713	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:101756713C>A	ENST00000251127.6	-	25	2903	c.2822G>T	c.(2821-2823)gGc>gTc	p.G941V		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	941					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.G941V(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAAAAATAAGCCATCTGCCAT	0.373																																							uc001vox.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(2821-2823)GGC>GTC		voltage gated channel like 1							100.0	94.0	96.0					13																	101756713		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101756713C>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2822G>T	13.37:g.101756713C>A	ENSP00000251127:p.Gly941Val						p.G941V	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			25	3011	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		941			Helical; Name=S2 of repeat III; (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2822G>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608186	0.87258	.	.	ENSG00000102452	ENST00000251127	D	0.97994	-4.65	5.66	5.66	0.87406	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99333	0.9766	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98565	1.0643	10	0.87932	D	0	.	19.7494	0.96261	0.0:1.0:0.0:0.0	.	941	Q8IZF0	NALCN_HUMAN	V	941	ENSP00000251127:G941V	ENSP00000251127:G941V	G	-	2	0	NALCN	100554714	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.676000	0.91093	0.655000	0.94253	GGC		0.373	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		9	70	1	0	0.000442599	0.006214	0.000490004	9	70				
NALCN	259232	broad.mit.edu	37	13	102030993	102030993	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:102030993G>T	ENST00000251127.6	-	4	384	c.303C>A	c.(301-303)tcC>tcA	p.S101S	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Silent_p.S101S|NALCN_ENST00000376196.3_Silent_p.S101S	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	101					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.S101S(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTTCACATAGGAACTATCCC	0.303																																							uc001vox.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(301-303)TCC>TCA		voltage gated channel like 1							91.0	94.0	93.0					13																	102030993		2203	4299	6502	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102030993G>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.303C>A	13.37:g.102030993G>T						NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Silent_p.S101S|NALCN_uc001vpa.2_Silent_p.S101S	p.S101S	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			4	492	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		101			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.303C>A	CCDS9498.1																																																																																				0.303	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		13	71	1	0	1.05317e-09	0.00245	1.49797e-09	13	71				
SLC10A2	6555	broad.mit.edu	37	13	103698485	103698485	+	Nonstop_Mutation	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr13:103698485A>C	ENST00000245312.3	-	6	1641	c.1045T>G	c.(1045-1047)Tag>Gag	p.*349E		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	0					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.*349E(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	CTTGATGTCTACTTTTCGTCA	0.373																																							uc001vpy.3		NA																	1	Nonstop extension(1)		lung(1)	ovary(3)|skin(1)	4						c.(1045-1047)TAG>GAG		solute carrier family 10 (sodium/bile acid							158.0	132.0	141.0					13																	103698485		2203	4300	6503	SO:0001578	stop_lost	6555				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr13:103698485A>C	U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.1045T>G	13.37:g.103698485A>C	ENSP00000245312:p.*349Glnext*17						p.*349E	NM_000452	NP_000443	Q12908	NTCP2_HUMAN			6	1642	-	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		349					A1L4F4|Q13839	Nonstop_Mutation	SNP	ENST00000245312.3	37	c.1045T>G	CCDS9506.1	.	.	.	.	.	.	.	.	.	.	A	2.709	-0.269146	0.05716	.	.	ENSG00000125255	ENST00000245312	.	.	.	5.43	4.19	0.49359	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6679	0.28443	0.9003:0.0:0.0997:0.0	.	.	.	.	E	349	.	.	X	-	1	0	SLC10A2	102496486	0.904000	0.30761	0.206000	0.23566	0.038000	0.13279	1.188000	0.32102	1.003000	0.39130	0.528000	0.53228	TAG		0.373	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1			13	58	0	0	0	0.001368	0	13	58				
POTEG	404785	broad.mit.edu	37	14	19553761	19553761	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:19553761C>A	ENST00000409832.3	+	1	397	c.345C>A	c.(343-345)agC>agA	p.S115R		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	115								p.S115R(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCGGCAAGAGCAAAGTGGGCC	0.597																																							uc001vuz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(343-345)AGC>AGA		POTE ankyrin domain family, member G							391.0	424.0	413.0					14																	19553761		2201	4298	6499	SO:0001583	missense	404785							g.chr14:19553761C>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.345C>A	14.37:g.19553761C>A	ENSP00000386971:p.Ser115Arg					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.S115R	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	397	+			115					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.345C>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	c	8.629	0.893124	0.17613	.	.	ENSG00000222036	ENST00000409832	T	0.27256	1.68	.	.	.	.	.	.	.	.	T	0.31606	0.0802	L	0.53249	1.67	0.09310	N	1	D	0.59767	0.986	P	0.54924	0.764	T	0.16928	-1.0386	7	0.30854	T	0.27	.	.	.	.	.	115	Q6S5H5	POTEG_HUMAN	R	115	ENSP00000386971:S115R	ENSP00000386971:S115R	S	+	3	2	POTEG	18623761	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.590000	0.23954	0.162000	0.19483	0.165000	0.16767	AGC		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		65	420	1	0	6.25564e-26	0.00361	1.09763e-25	65	420				
OR4Q3	441669	broad.mit.edu	37	14	20216317	20216317	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:20216317A>T	ENST00000331723.1	+	1	731	c.731A>T	c.(730-732)cAc>cTc	p.H244L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H244L(1)		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)		TGTGCTTCTCACCTGACAGTG	0.458																																							uc010tkt.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(730-732)CAC>CTC		olfactory receptor, family 4, subfamily Q,							169.0	160.0	163.0					14																	20216317		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216317A>T	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.731A>T	14.37:g.20216317A>T	ENSP00000330049:p.His244Leu						p.H244L	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	731	+	all_cancers(95;0.00108)		244			Helical; Name=6; (Potential).		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.731A>T	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	12.88	2.070646	0.36566	.	.	ENSG00000182652	ENST00000331723	T	0.00307	8.17	4.1	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	U	0.000716	T	0.01320	0.0043	H	0.99299	4.505	0.39786	D	0.972364	D	0.89917	1.0	D	0.97110	1.0	T	0.03354	-1.1045	10	0.87932	D	0	.	11.0806	0.48057	1.0:0.0:0.0:0.0	.	244	Q8NH05	OR4Q3_HUMAN	L	244	ENSP00000330049:H244L	ENSP00000330049:H244L	H	+	2	0	OR4Q3	19286157	1.000000	0.71417	0.995000	0.50966	0.079000	0.17450	6.808000	0.75206	1.710000	0.51325	0.416000	0.27883	CAC		0.458	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			4	171	0	0	0	0.009096	0	4	171				
OR4K15	81127	broad.mit.edu	37	14	20444601	20444601	+	Silent	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:20444601T>C	ENST00000305051.5	+	1	999	c.924T>C	c.(922-924)ccT>ccC	p.P308P		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P308P(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTTAAACCCTGTAATCTACA	0.408																																							uc010tkx.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(922-924)CCT>CCC		olfactory receptor, family 4, subfamily K,							99.0	99.0	99.0					14																	20444601		2203	4300	6503	SO:0001819	synonymous_variant	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444601T>C		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.924T>C	14.37:g.20444601T>C							p.P308P	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	924	+	all_cancers(95;0.00108)		308			Helical; Name=7; (Potential).		B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	37	c.924T>C	CCDS32026.1																																																																																				0.408	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			9	88	0	0	0	0.008291	0	9	88				
OR4K13	390433	broad.mit.edu	37	14	20502628	20502628	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:20502628C>G	ENST00000315693.2	-	1	291	c.290G>C	c.(289-291)tGt>tCt	p.C97S	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C97S(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTGGGAATAACATCCCCACCA	0.468																																							uc010tkz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(289-291)TGT>TCT		olfactory receptor, family 4, subfamily K,							90.0	88.0	89.0					14																	20502628		2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502628C>G		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.290G>C	14.37:g.20502628C>G	ENSP00000319322:p.Cys97Ser						p.C97S	NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	290	-	all_cancers(95;0.00108)		97			Extracellular (Potential).		Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.290G>C	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	12.73	2.026437	0.35701	.	.	ENSG00000176253	ENST00000315693	T	0.00540	6.7	3.47	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	U	0.000688	T	0.05227	0.0139	H	0.99130	4.44	0.44995	D	0.998014	D	0.89917	1.0	D	0.97110	1.0	T	0.04078	-1.0979	10	0.87932	D	0	.	13.8617	0.63564	0.0:1.0:0.0:0.0	.	97	Q8NH42	OR4KD_HUMAN	S	97	ENSP00000319322:C97S	ENSP00000319322:C97S	C	-	2	0	OR4K13	19572468	1.000000	0.71417	0.180000	0.23079	0.008000	0.06430	4.857000	0.62939	1.781000	0.52344	0.404000	0.27445	TGT		0.468	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			32	71	0	0	0	0.009535	0	32	71				
RNASE2	6036	broad.mit.edu	37	14	21424061	21424061	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:21424061A>T	ENST00000304625.2	+	2	221	c.131A>T	c.(130-132)aAt>aTt	p.N44I		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	44					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)	p.N44I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		CAGCACATCAATATGACCTCC	0.453																																							uc010aif.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(130-132)AAT>ATT		ribonuclease, RNase A family, 2 (liver,							83.0	76.0	78.0					14																	21424061		2203	4300	6503	SO:0001583	missense	6036				chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21424061A>T	X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"""Ribonucleases, RNase A"""	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.131A>T	14.37:g.21424061A>T	ENSP00000303276:p.Asn44Ile					RNASE2_uc001vyl.1_Missense_Mutation_p.N44I	p.N44I	NM_002934	NP_002925	P10153	RNAS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	200	+	all_cancers(95;0.00381)		44					Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	ENST00000304625.2	37	c.131A>T	CCDS9561.1	.	.	.	.	.	.	.	.	.	.	a	12.92	2.081936	0.36758	.	.	ENSG00000169385	ENST00000304625	T	0.15952	2.38	2.55	0.0943	0.14481	Ribonuclease A, domain (4);	0.442134	0.17622	U	0.167687	T	0.24275	0.0588	L	0.53249	1.67	0.09310	N	1	D	0.59767	0.986	P	0.57960	0.83	T	0.07347	-1.0777	10	0.87932	D	0	.	4.6616	0.12645	0.6916:0.0:0.3084:0.0	.	44	P10153	RNAS2_HUMAN	I	44	ENSP00000303276:N44I	ENSP00000303276:N44I	N	+	2	0	RNASE2	20493901	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.232000	0.17891	0.012000	0.14892	-0.566000	0.04163	AAT		0.453	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2			13	72	0	0	0	0.001855	0	13	72				
SALL2	6297	broad.mit.edu	37	14	21992261	21992261	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:21992261G>A	ENST00000327430.3	-	2	1895	c.1601C>T	c.(1600-1602)tCa>tTa	p.S534L	SALL2_ENST00000450879.2_Missense_Mutation_p.S397L|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron|AE000658.22_ENST00000535893.1_RNA	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	534					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S534L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		ACTGATGGCTGAGCCCTCACT	0.512																																							uc001wbe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1600-1602)TCA>TTA		sal-like 2							84.0	74.0	77.0					14																	21992261		2203	4300	6503	SO:0001583	missense	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21992261G>A	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.1601C>T	14.37:g.21992261G>A	ENSP00000333537:p.Ser534Leu					SALL2_uc010tly.1_Missense_Mutation_p.S532L|SALL2_uc010tlz.1_Missense_Mutation_p.S397L|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.S399L|SALL2_uc001wbg.1_Intron	p.S534L	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	1883	-	all_cancers(95;0.000662)		534					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	ENST00000327430.3	37	c.1601C>T	CCDS32045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.38|18.38	3.611838|3.611838	0.66558|0.66558	.|.	.|.	ENSG00000165821|ENSG00000165821	ENST00000546363|ENST00000327430;ENST00000450879;ENST00000541876	.|T;T	.|0.04454	.|3.68;3.62	4.6|4.6	4.6|4.6	0.57074|0.57074	.|.	.|0.000000	.|0.32802	.|N	.|0.005637	.|T	.|0.14700	.|0.0355	L|L	0.53249|0.53249	1.67|1.67	0.47778|0.47778	D|D	0.999511|0.999511	.|D;D;D	.|0.62365	.|0.991;0.991;0.991	.|P;P;P	.|0.60886	.|0.88;0.88;0.88	.|T	.|0.00288	.|-1.1845	.|10	.|0.62326	.|D	.|0.03	-14.1345|-14.1345	14.949|14.949	0.71057|0.71057	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|397;397;534	.|B4DK65;E7EW59;Q9Y467	.|.;.;SALL2_HUMAN	X|L	393|534;397;534	.|ENSP00000333537:S534L;ENSP00000396773:S397L	.|ENSP00000333537:S534L	Q|S	-|-	1|2	0|0	SALL2|SALL2	21062101|21062101	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.916000|0.916000	0.54674|0.54674	7.222000|7.222000	0.78025|0.78025	2.385000|2.385000	0.81259|0.81259	0.563000|0.563000	0.77884|0.77884	CAG|TCA		0.512	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		5	84	0	0	0	0.000602	0	5	84				
MYH7	4625	broad.mit.edu	37	14	23902894	23902894	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:23902894C>A	ENST00000355349.3	-	3	210	c.48G>T	c.(46-48)ctG>ctT	p.L16L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	16					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)	p.L16L(1)		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)		CTGACTTGCGCAGGTAGGGGG	0.577																																							uc001wjx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(46-48)CTG>CTT		myosin, heavy chain 7, cardiac muscle, beta							63.0	62.0	63.0					14																	23902894		2203	4300	6503	SO:0001819	synonymous_variant	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.chr14:23902894C>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.48G>T	14.37:g.23902894C>A							p.L16L	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	3	154	-	all_cancers(95;2.54e-05)		16			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.48G>T	CCDS9601.1																																																																																				0.577	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		10	83	1	0	2.74318e-10	0.006214	3.98314e-10	10	83				
TINF2	26277	broad.mit.edu	37	14	24709282	24709282	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:24709282C>A	ENST00000267415.7	-	8	1550	c.1209G>T	c.(1207-1209)caG>caT	p.Q403H	TINF2_ENST00000540705.1_Missense_Mutation_p.Q368H|TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000538777.1_3'UTR|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000558510.1_5'Flank	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	403					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)	p.Q403H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TTCCTTCCCCCTGGCCATTTT	0.502									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																														uc001woa.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1207-1209)CAG>CAT		TERF1 (TRF1)-interacting nuclear factor 2							249.0	257.0	255.0					14																	24709282		1939	4130	6069	SO:0001583	missense	26277	Ataxia_Pancytopenia_syndrome|Congenital_Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|protein binding|telomeric DNA binding	g.chr14:24709282C>A	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.1209G>T	14.37:g.24709282C>A	ENSP00000267415:p.Gln403His					TINF2_uc010alm.2_3'UTR|TINF2_uc001wob.3_3'UTR|TINF2_uc010tof.1_Missense_Mutation_p.Q368H|TINF2_uc001woc.3_3'UTR	p.Q403H	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	8	1551	-			403					B3W5Q7|Q9H904|Q9UHC2	Missense_Mutation	SNP	ENST00000267415.7	37	c.1209G>T	CCDS41936.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943541	0.53079	.	.	ENSG00000092330	ENST00000267415;ENST00000540705	D;D	0.86230	-2.08;-2.09	5.39	2.61	0.31194	.	0.085372	0.46758	D	0.000267	D	0.90061	0.6896	L	0.59436	1.845	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.939	D	0.87783	0.2613	10	0.72032	D	0.01	-10.4845	7.5468	0.27772	0.0:0.7332:0.0:0.2668	.	368;403	B4DFJ1;Q9BSI4	.;TINF2_HUMAN	H	403;368	ENSP00000267415:Q403H;ENSP00000442154:Q368H	ENSP00000267415:Q403H	Q	-	3	2	TINF2	23779122	0.854000	0.29725	0.336000	0.25522	0.978000	0.69477	1.059000	0.30517	0.267000	0.21916	0.563000	0.77884	CAG		0.502	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			9	400	1	0	2.17888e-05	0.006214	2.60269e-05	9	400				
MAPK1IP1L	93487	broad.mit.edu	37	14	55529931	55529931	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:55529931A>G	ENST00000395468.4	+	3	791	c.614A>G	c.(613-615)tAt>tGt	p.Y205C		NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	205	Pro-rich.							p.Y205C(1)		endometrium(2)|large_intestine(1)|lung(3)	6						CCAGCACCATATCCTGCCCCT	0.607																																							uc001xbq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(613-615)TAT>TGT		MAPK-interacting and spindle-stabilizing							75.0	71.0	72.0					14																	55529931		2203	4300	6503	SO:0001583	missense	93487							g.chr14:55529931A>G	AK025580	CCDS32085.1	14q22.1	2008-01-30	2008-01-30	2008-01-16		ENSG00000168175			19840	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 32"", ""mitogen activated protein kinase 1 interacting protein 1-like"""	C14orf32		12011110	Standard	NM_144578		Approved		uc001xbq.1	Q8NDC0		ENST00000395468.4:c.614A>G	14.37:g.55529931A>G	ENSP00000378851:p.Tyr205Cys						p.Y205C	NM_144578	NP_653179	Q8NDC0	MISSL_HUMAN			3	778	+			205			Pro-rich.		B2RDD8|Q96BG5	Missense_Mutation	SNP	ENST00000395468.4	37	c.614A>G	CCDS32085.1	.	.	.	.	.	.	.	.	.	.	.	11.85	1.760209	0.31137	.	.	ENSG00000168175	ENST00000395468	.	.	.	4.95	3.74	0.42951	.	0.275266	0.25494	N	0.030285	T	0.30103	0.0754	N	0.24115	0.695	0.30657	N	0.754793	B	0.13145	0.007	B	0.09377	0.004	T	0.16100	-1.0414	9	0.39692	T	0.17	-2.4508	7.6182	0.28171	0.7089:0.0:0.0:0.2911	.	205	Q8NDC0	MISSL_HUMAN	C	205	.	ENSP00000378851:Y205C	Y	+	2	0	MAPK1IP1L	54599684	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.665000	0.46791	2.086000	0.62901	0.533000	0.62120	TAT		0.607	MAPK1IP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411302.2	NM_144578		3	100	0	0	0	0.004672	0	3	100				
KCNH5	27133	broad.mit.edu	37	14	63269127	63269127	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:63269127C>A	ENST00000322893.7	-	9	2010	c.1742G>T	c.(1741-1743)gGa>gTa	p.G581V	KCNH5_ENST00000420622.2_Missense_Mutation_p.G581V|KCNH5_ENST00000394968.1_Missense_Mutation_p.G523V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	581					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)	p.G581V(1)|p.G523V(1)		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)		CACACTTTCTCCAGCATGGTA	0.517																																							uc001xfx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(1741-1743)GGA>GTA		potassium voltage-gated channel, subfamily H,							104.0	91.0	95.0					14																	63269127		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.chr14:63269127C>A	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.1742G>T	14.37:g.63269127C>A	ENSP00000321427:p.Gly581Val					KCNH5_uc001xfy.2_Missense_Mutation_p.G581V|KCNH5_uc001xfz.1_Missense_Mutation_p.G523V	p.G581V	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	9	1793	-			581			cNMP.|Cytoplasmic (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1742G>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263119	0.80358	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.98777	-5.13;-5.13;-5.13	5.03	5.03	0.67393	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99507	0.9824	H	0.97758	4.07	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.992;0.998	D	0.98030	1.0376	10	0.87932	D	0	.	18.7248	0.91710	0.0:1.0:0.0:0.0	.	523;581;581	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	V	581;581;523	ENSP00000321427:G581V;ENSP00000395439:G581V;ENSP00000378419:G523V	ENSP00000321427:G581V	G	-	2	0	KCNH5	62338880	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	7.776000	0.85560	2.507000	0.84556	0.563000	0.77884	GGA		0.517	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		16	47	1	0	2.23348e-06	0.004007	2.80259e-06	16	47				
WDR89	112840	broad.mit.edu	37	14	64066267	64066267	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:64066267C>A	ENST00000394942.2	-	2	482	c.394G>T	c.(394-396)Gct>Tct	p.A132S	WDR89_ENST00000267522.3_Missense_Mutation_p.A132S|CTD-2302E22.2_ENST00000553983.1_lincRNA	NM_001008726.2|NM_001258272.1|NM_080666.3	NP_001008726.1|NP_001245201.1|NP_542397.1	Q96FK6	WDR89_HUMAN	WD repeat domain 89	132								p.A132S(1)		endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		TCTGTACCAGCACAAATAATA	0.353																																							uc001xgh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(394-396)GCT>TCT		WD repeat domain 89							60.0	58.0	58.0					14																	64066267		2203	4300	6503	SO:0001583	missense	112840							g.chr14:64066267C>A	AF115513	CCDS9759.1	14q23.2	2013-01-09		2006-07-07	ENSG00000140006	ENSG00000140006		"""WD repeat domain containing"""	20489	protein-coding gene	gene with protein product				C14orf150			Standard	NM_080666		Approved	MGC9907	uc001xgi.4	Q96FK6	OTTHUMG00000140340	ENST00000394942.2:c.394G>T	14.37:g.64066267C>A	ENSP00000378399:p.Ala132Ser					WDR89_uc001xgi.2_Missense_Mutation_p.A132S	p.A132S	NM_001008726	NP_001008726	Q96FK6	WDR89_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)	3	640	-			132			WD 3.			Missense_Mutation	SNP	ENST00000394942.2	37	c.394G>T	CCDS9759.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603190	0.87157	.	.	ENSG00000140006	ENST00000394942;ENST00000267522;ENST00000554717	T;T;T	0.61859	0.07;0.07;1.8	5.92	5.92	0.95590	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.72407	0.3456	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63171	-0.6697	10	0.12103	T	0.63	.	20.3343	0.98733	0.0:1.0:0.0:0.0	.	132	Q96FK6	WDR89_HUMAN	S	132	ENSP00000378399:A132S;ENSP00000267522:A132S;ENSP00000451702:A132S	ENSP00000267522:A132S	A	-	1	0	WDR89	63136020	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.153000	0.77428	2.822000	0.97130	0.650000	0.86243	GCT		0.353	WDR89-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411879.2	NM_080666		4	53	1	0	0.000602214	0.000602	0.000659027	4	53				
RAB15	376267	broad.mit.edu	37	14	65419249	65419249	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:65419249G>A	ENST00000533601.2	-	2	502	c.165C>T	c.(163-165)atC>atT	p.I55I	RAB15_ENST00000267512.5_Silent_p.I55I|RAB15_ENST00000426039.3_Silent_p.I9I|FNTB_ENST00000447296.2_Intron|RAB15_ENST00000436278.2_Silent_p.I9I|FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000549987.1_Intron			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	55					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	GTP binding (GO:0005525)	p.I55I(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		TCCGCACTTTGATGCCGTCTA	0.478																																							uc001xhz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(163-165)ATC>ATT		RAB15, member RAS onocogene family							147.0	125.0	132.0					14																	65419249		2203	4300	6503	SO:0001819	synonymous_variant	376267				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr14:65419249G>A	BC014511	CCDS9768.1	14q23.2	2012-02-28	2012-02-28		ENSG00000139998	ENSG00000139998		"""RAB, member RAS oncogene"""	20150	protein-coding gene	gene with protein product						11697911	Standard	NM_198686		Approved		uc001xhz.2	P59190	OTTHUMG00000142810	ENST00000533601.2:c.165C>T	14.37:g.65419249G>A						FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|RAB15_uc010aqk.2_RNA	p.I55I	NM_198686	NP_941959	P59190	RAB15_HUMAN		all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)	2	246	-			55					G5EMR7|Q86TX7|Q8IW89	Silent	SNP	ENST00000533601.2	37	c.165C>T																																																																																					0.478	RAB15-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390443.2	NM_198686		19	117	0	0	0	0.010504	0	19	117				
SIPA1L1	26037	broad.mit.edu	37	14	72176331	72176331	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:72176331G>T	ENST00000555818.1	+	15	4569	c.4221G>T	c.(4219-4221)ctG>ctT	p.L1407L	SIPA1L1_ENST00000537413.1_Silent_p.L861L|SIPA1L1_ENST00000358550.2_Silent_p.L1386L|SIPA1L1_ENST00000381232.3_Silent_p.L1386L|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1407	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)	p.L1407L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CGACCCCTCTGACAAGGGAGA	0.557																																							uc001xms.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(4219-4221)CTG>CTT		signal-induced proliferation-associated 1 like							63.0	59.0	61.0					14																	72176331		2203	4300	6503	SO:0001819	synonymous_variant	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72176331G>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4221G>T	14.37:g.72176331G>T						SIPA1L1_uc001xmt.2_Silent_p.L1386L|SIPA1L1_uc001xmu.2_Silent_p.L1386L|SIPA1L1_uc001xmv.2_Silent_p.L1407L|SIPA1L1_uc010ttm.1_Silent_p.L861L|SIPA1L1_uc001xmw.2_Silent_p.L172L	p.L1407L	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	15	4569	+			1407			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	ENST00000555818.1	37	c.4221G>T	CCDS9807.1																																																																																				0.557	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		11	31	1	0	1.61879e-10	0.001368	2.36366e-10	11	31				
RBM25	58517	broad.mit.edu	37	14	73554749	73554749	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:73554749C>T	ENST00000261973.7	+	6	708	c.423C>T	c.(421-423)ctC>ctT	p.L141L	RBM25_ENST00000525321.1_Silent_p.L141L|RBM25_ENST00000540173.1_Silent_p.L141L|RBM25_ENST00000527432.1_Silent_p.L141L|RBM25_ENST00000526754.1_Silent_p.L141L	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	141	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L141L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AATCTACCCTCCGTGCACTCA	0.383																																							uc001xno.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|breast(1)	4						c.(421-423)CTC>CTT		RNA binding motif protein 25							105.0	103.0	104.0					14																	73554749		2203	4300	6503	SO:0001819	synonymous_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73554749C>T	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.423C>T	14.37:g.73554749C>T						RBM25_uc001xnn.3_Silent_p.L141L|RBM25_uc010ttu.1_Silent_p.L141L|RBM25_uc001xnp.2_5'UTR	p.L141L	NM_021239	NP_067062	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	6	631	+			141			RRM.		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Silent	SNP	ENST00000261973.7	37	c.423C>T	CCDS32113.1																																																																																				0.383	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330		5	71	0	0	0	0.001168	0	5	71				
CEP128	145508	broad.mit.edu	37	14	81251424	81251424	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:81251424C>A	ENST00000555265.1	-	15	2401	c.2026G>T	c.(2026-2028)Gat>Tat	p.D676Y	CEP128_ENST00000281129.3_Missense_Mutation_p.D676Y			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	676						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.D676Y(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GTTTCTTCATCCCTGGATTTT	0.458																																							uc001xux.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2026-2028)GAT>TAT		hypothetical protein LOC145508							258.0	201.0	221.0					14																	81251424		2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81251424C>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2026G>T	14.37:g.81251424C>A	ENSP00000451162:p.Asp676Tyr					C14orf145_uc010asz.1_RNA	p.D676Y	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0586)	14	2197	-			676			Potential.		B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.2026G>T	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	C	8.468	0.856956	0.17106	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.31510	1.49;1.49	6.06	3.78	0.43462	.	0.503327	0.19826	N	0.105195	T	0.25568	0.0622	N	0.22421	0.69	0.58432	D	0.999999	P	0.41569	0.755	P	0.44990	0.466	T	0.01604	-1.1314	10	0.54805	T	0.06	.	11.1169	0.48266	0.0:0.6549:0.266:0.079	.	676	Q6ZU80	CE128_HUMAN	Y	676	ENSP00000281129:D676Y;ENSP00000451162:D676Y	ENSP00000281129:D676Y	D	-	1	0	CEP128	80321177	0.984000	0.35163	0.816000	0.32577	0.198000	0.23893	2.458000	0.45014	2.885000	0.99019	0.579000	0.79373	GAT		0.458	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	NM_152446		25	196	1	0	9.86323e-18	0.003954	1.65284e-17	25	196				
TSHR	7253	broad.mit.edu	37	14	81609827	81609827	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:81609827C>A	ENST00000541158.2	+	11	1747	c.1425C>A	c.(1423-1425)ctC>ctA	p.L475L	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Silent_p.L475L			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	475					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.L475L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CTGTAGACCTCTACACTCACT	0.542			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																uc001xvd.1		NA	yes	Dom	yes		14	14q31	7253	Mis	thyroid stimulating hormone receptor	yes	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 	E		thyroid  adenoma	toxic thyroid adenoma		1	Substitution - coding silent(1)		lung(1)	thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299						c.(1423-1425)CTC>CTA		thyroid stimulating hormone receptor isoform 1	Thyrotropin Alfa(DB00024)						647.0	486.0	541.0					14																	81609827		2203	4300	6503	SO:0001819	synonymous_variant	7253				cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	g.chr14:81609827C>A	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1425C>A	14.37:g.81609827C>A							p.L475L	NM_000369	NP_000360	P16473	TSHR_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0402)	10	1581	+			475			Extracellular (Potential).		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	c.1425C>A	CCDS9872.1																																																																																				0.542	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		25	70	1	0	1.5548e-18	0.005443	2.62655e-18	25	70				
GTF2A1	2957	broad.mit.edu	37	14	81670426	81670426	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:81670426T>A	ENST00000553612.1	-	3	558	c.155A>T	c.(154-156)cAg>cTg	p.Q52L	SNORA79_ENST00000408376.1_RNA|GTF2A1_ENST00000434192.2_Missense_Mutation_p.Q13L	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	52					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.Q52L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TGCCCTGGACTGCATTAGTTT	0.403																																							uc001xvf.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(154-156)CAG>CTG		TFIIA alpha, p55 isoform 1							130.0	90.0	104.0					14																	81670426		2203	4300	6503	SO:0001583	missense	2957				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity	g.chr14:81670426T>A	X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.155A>T	14.37:g.81670426T>A	ENSP00000452454:p.Gln52Leu					GTF2A1_uc010atb.1_Missense_Mutation_p.Q2L|GTF2A1_uc001xvg.1_Missense_Mutation_p.Q13L|GTF2A1_uc001xvh.1_Missense_Mutation_p.Q13L|SNORA79_uc001xvi.1_5'Flank	p.Q52L	NM_015859	NP_056943	P52655	TF2AA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0287)	3	587	-			52					Q3KNQ9	Missense_Mutation	SNP	ENST00000553612.1	37	c.155A>T	CCDS9873.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.853951	0.91355	.	.	ENSG00000165417	ENST00000553612;ENST00000344860;ENST00000434192	T;T	0.51574	0.7;0.7	5.55	5.55	0.83447	Transcription factor IIA, alpha subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	M	0.82323	2.585	0.80722	D	1	D;P	0.57899	0.981;0.925	D;D	0.67900	0.954;0.932	T	0.75348	-0.3349	10	0.66056	D	0.02	-5.1242	15.6979	0.77515	0.0:0.0:0.0:1.0	.	13;52	P52655-2;P52655	.;TF2AA_HUMAN	L	52;13;13	ENSP00000452454:Q52L;ENSP00000409492:Q13L	ENSP00000298173:Q52L	Q	-	2	0	GTF2A1	80740179	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.280000	0.78610	2.108000	0.64289	0.460000	0.39030	CAG		0.403	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859		13	38	0	0	0	0.001855	0	13	38				
PTPN21	11099	broad.mit.edu	37	14	88940125	88940125	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:88940125C>G	ENST00000556564.1	-	14	2817	c.2533G>C	c.(2533-2535)Gat>Cat	p.D845H	PTPN21_ENST00000328736.3_Missense_Mutation_p.D845H	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	845					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.D845H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTTTTTGCATCTACTCGAGTC	0.403																																							uc001xwv.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2533-2535)GAT>CAT		protein tyrosine phosphatase, non-receptor type							168.0	160.0	163.0					14																	88940125		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88940125C>G	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2533G>C	14.37:g.88940125C>G	ENSP00000452414:p.Asp845His					PTPN21_uc010twc.1_Missense_Mutation_p.D641H	p.D845H	NM_007039	NP_008970	Q16825	PTN21_HUMAN			14	2864	-			845						Missense_Mutation	SNP	ENST00000556564.1	37	c.2533G>C	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598586	0.66332	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.73258	-0.73;-0.73	5.97	5.09	0.68999	.	0.288511	0.38959	N	0.001510	T	0.69433	0.3110	L	0.54323	1.7	0.40606	D	0.98162	P	0.39326	0.668	B	0.41088	0.347	T	0.71553	-0.4558	10	0.45353	T	0.12	.	15.3023	0.73962	0.0:0.9329:0.0:0.0671	.	845	Q16825	PTN21_HUMAN	H	845	ENSP00000330276:D845H;ENSP00000452414:D845H	ENSP00000330276:D845H	D	-	1	0	PTPN21	88009878	1.000000	0.71417	0.975000	0.42487	0.992000	0.81027	4.346000	0.59367	1.535000	0.49220	0.655000	0.94253	GAT		0.403	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			6	102	0	0	0	0.001168	0	6	102				
KCNK13	56659	broad.mit.edu	37	14	90651011	90651011	+	Silent	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:90651011G>C	ENST00000282146.4	+	2	1332	c.891G>C	c.(889-891)ggG>ggC	p.G297G		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	297					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.G297G(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TGGACAGCGGGTGCTGCCCGC	0.537																																							uc001xye.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(889-891)GGG>GGC		potassium channel, subfamily K, member 13							73.0	79.0	77.0					14																	90651011		2203	4300	6503	SO:0001819	synonymous_variant	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90651011G>C	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.891G>C	14.37:g.90651011G>C							p.G297G	NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN			2	1333	+		all_cancers(154;0.186)	297			Cytoplasmic (Potential).		B5TJL8|Q96E79	Silent	SNP	ENST00000282146.4	37	c.891G>C	CCDS9889.1																																																																																				0.537	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054		7	118	0	0	0	0.004482	0	7	118				
NRDE2	55051	broad.mit.edu	37	14	90764712	90764712	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:90764712C>A	ENST00000354366.3	-	8	1790	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	NRDE2_ENST00000357904.3_Nonsense_Mutation_p.E289*	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	520								p.E520*(1)									CAAAAGGGTTCAAAGAATTCC	0.537																																							uc001xyi.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)	3						c.(1558-1560)GAA>TAA		hypothetical protein LOC55051 isoform 1							52.0	53.0	53.0					14																	90764712		2203	4300	6503	SO:0001587	stop_gained	55051						protein binding	g.chr14:90764712C>A	AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.1558G>T	14.37:g.90764712C>A	ENSP00000346335:p.Glu520*					C14orf102_uc010atp.1_Nonsense_Mutation_p.E25*|C14orf102_uc001xyj.1_Nonsense_Mutation_p.E289*	p.E520*	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	8	1589	-		all_cancers(154;0.118)	520					B4DH71|Q4G0A7|Q9NWH6	Nonsense_Mutation	SNP	ENST00000354366.3	37	c.1558G>T	CCDS9890.1	.	.	.	.	.	.	.	.	.	.	C	42	9.510306	0.99190	.	.	ENSG00000119720	ENST00000354366;ENST00000357904;ENST00000554464	.	.	.	5.8	5.8	0.92144	.	0.058480	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.6106	20.0469	0.97609	0.0:1.0:0.0:0.0	.	.	.	.	X	520;289;99	.	ENSP00000346335:E520X	E	-	1	0	C14orf102	89834465	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.484000	0.81180	2.741000	0.93983	0.455000	0.32223	GAA		0.537	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1	NM_017970		23	54	1	0	9.95505e-16	0.002299	1.62392e-15	23	54				
TTC7B	145567	broad.mit.edu	37	14	91059911	91059911	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:91059911C>A	ENST00000328459.6	-	18	2147	c.2026G>T	c.(2026-2028)Gct>Tct	p.A676S	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_Missense_Mutation_p.A693S	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	676								p.A676S(1)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				AGAGACGAAGCCACTTCCGAC	0.597																																							uc001xyp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2026-2028)GCT>TCT		tetratricopeptide repeat domain 7B							83.0	69.0	74.0					14																	91059911		2203	4300	6503	SO:0001583	missense	145567						binding	g.chr14:91059911C>A	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2026G>T	14.37:g.91059911C>A	ENSP00000336127:p.Ala676Ser					TTC7B_uc001xyo.2_Missense_Mutation_p.A120S|TTC7B_uc010ats.2_RNA	p.A676S	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN			18	2148	-		Melanoma(154;0.222)	676					Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	c.2026G>T	CCDS32140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.283919|4.283919	0.80803|0.80803	.|.	.|.	ENSG00000165914|ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000553972;ENST00000555894|ENST00000557292	T;T;T|.	0.64991|.	1.83;1.09;-0.13|.	5.6|5.6	4.71|4.71	0.59529|0.59529	Protein prenyltransferase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60090|0.60090	0.2242|0.2242	L|L	0.45137|0.45137	1.4|1.4	0.80722|0.80722	D|D	1|1	P;D|.	0.61697|.	0.657;0.99|.	B;D|.	0.73380|.	0.138;0.98|.	T|T	0.57230|0.57230	-0.7847|-0.7847	10|5	0.18276|.	T|.	0.48|.	-13.9251|-13.9251	14.4539|14.4539	0.67404|0.67404	0.0:0.9295:0.0:0.0705|0.0:0.9295:0.0:0.0705	.|.	676;693|.	Q86TV6;Q86TV6-2|.	TTC7B_HUMAN;.|.	S|V	574;693;676;163;85|103	ENSP00000349564:A693S;ENSP00000336127:A676S;ENSP00000451440:A163S|.	ENSP00000336127:A676S|.	A|G	-|-	1|2	0|0	TTC7B|TTC7B	90129664|90129664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.842000|0.842000	0.47809|0.47809	7.550000|7.550000	0.82173|0.82173	1.372000|1.372000	0.46190|0.46190	-0.142000|-0.142000	0.14014|0.14014	GCT|GGC		0.597	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			8	60	1	0	0.000157383	0.00308	0.000178208	8	60				
UBR7	55148	broad.mit.edu	37	14	93685569	93685569	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:93685569G>T	ENST00000013070.6	+	8	1058	c.822G>T	c.(820-822)aaG>aaT	p.K274N	UBR7_ENST00000416753.1_Missense_Mutation_p.K198N	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	274							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K274N(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						CAGTGTTTAAGAATGAAAGCC	0.348																																							uc001ybm.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(820-822)AAG>AAT		ubiquitin protein ligase E3 component n-recognin							43.0	43.0	43.0					14																	93685569		2202	4300	6502	SO:0001583	missense	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93685569G>T	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.822G>T	14.37:g.93685569G>T	ENSP00000013070:p.Lys274Asn					UBR7_uc001ybn.3_Missense_Mutation_p.K198N|UBR7_uc010auq.2_Missense_Mutation_p.K123N	p.K274N	NM_175748	NP_786924	Q8N806	UBR7_HUMAN			8	1058	+			274					Q86U21|Q86UA9|Q96BY0|Q9NVV6	Missense_Mutation	SNP	ENST00000013070.6	37	c.822G>T	CCDS9909.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744745	0.30865	.	.	ENSG00000012963	ENST00000013070;ENST00000535646;ENST00000416753	T;T	0.78246	-1.14;-1.16	5.73	5.73	0.89815	.	0.851711	0.10854	N	0.626850	T	0.70885	0.3275	L	0.41236	1.265	0.40466	D	0.980291	B;B	0.10296	0.001;0.003	B;B	0.11329	0.005;0.006	T	0.60209	-0.7308	10	0.22706	T	0.39	-3.5453	13.141	0.59434	0.0729:0.0:0.9271:0.0	.	198;274	E9PCJ7;Q8N806	.;UBR7_HUMAN	N	274;198;198	ENSP00000013070:K274N;ENSP00000391706:K198N	ENSP00000013070:K274N	K	+	3	2	UBR7	92755322	0.974000	0.33945	0.960000	0.40013	0.893000	0.52053	0.740000	0.26188	2.718000	0.92993	0.650000	0.86243	AAG		0.348	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		6	41	1	0	8.12818e-05	0.001984	9.32508e-05	6	41				
SERPINA6	866	broad.mit.edu	37	14	94780726	94780726	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:94780726G>T	ENST00000341584.3	-	2	406	c.260C>A	c.(259-261)gCc>gAc	p.A87D		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	87					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)	p.A87D(1)		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)	GAGAAGCTGGGCCCGTGTGTG	0.552																																							uc001ycv.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(259-261)GCC>GAC		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)						55.0	58.0	57.0					14																	94780726		2203	4300	6503	SO:0001583	missense	866				regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding	g.chr14:94780726G>T	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.260C>A	14.37:g.94780726G>T	ENSP00000342850:p.Ala87Asp					SERPINA6_uc010auv.2_RNA	p.A87D	NM_001756	NP_001747	P08185	CBG_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	364	-		all_cancers(154;0.0482)|all_epithelial(191;0.166)	87					A8K456|Q7Z2Q9	Missense_Mutation	SNP	ENST00000341584.3	37	c.260C>A	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	G	6.482	0.457106	0.12283	.	.	ENSG00000170099	ENST00000341584;ENST00000557225	D;D	0.83914	-1.78;-1.78	4.7	1.84	0.25277	Serpin domain (3);	2.178310	0.02425	N	0.082956	T	0.69251	0.3090	N	0.13168	0.305	0.09310	N	1	P	0.40250	0.709	B	0.38020	0.263	T	0.61322	-0.7086	10	0.38643	T	0.18	.	2.6653	0.05046	0.1332:0.1175:0.4834:0.2659	.	87	P08185	CBG_HUMAN	D	87	ENSP00000342850:A87D;ENSP00000452018:A87D	ENSP00000342850:A87D	A	-	2	0	SERPINA6	93850479	0.001000	0.12720	0.001000	0.08648	0.160000	0.22226	0.204000	0.17335	0.203000	0.20529	0.563000	0.77884	GCC		0.552	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756		16	32	1	0	3.35478e-16	0.003163	5.52427e-16	16	32				
DYNC1H1	1778	broad.mit.edu	37	14	102472507	102472507	+	Splice_Site	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:102472507G>C	ENST00000360184.4	+	27	5880	c.5716G>C	c.(5716-5718)Gga>Cga	p.G1906R		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1906	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.G1906R(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTCCCCATTTGGTAAGTTCTT	0.448																																							uc001yks.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(5716-5718)GGA>CGA		cytoplasmic dynein 1 heavy chain 1							60.0	65.0	63.0					14																	102472507		2202	4299	6501	SO:0001630	splice_region_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102472507G>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5716+1G>C	14.37:g.102472507G>C							p.G1906R	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			27	5880	+			1906			ATP (Potential).|AAA 1 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.5716G>C	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736349	0.89482	.	.	ENSG00000197102	ENST00000360184	D	0.93604	-3.25	6.07	6.07	0.98685	ATPase, AAA+ type, core (1);	0.105545	0.64402	D	0.000004	D	0.98378	0.9461	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98797	1.0738	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1906	Q14204	DYHC1_HUMAN	R	1906	ENSP00000348965:G1906R	ENSP00000348965:G1906R	G	+	1	0	DYNC1H1	101542260	1.000000	0.71417	0.951000	0.38953	0.948000	0.59901	7.624000	0.83124	2.884000	0.98904	0.655000	0.94253	GGA		0.448	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	Missense_Mutation	26	66	0	0	0	0.004656	0	26	66				
PPP1R13B	23368	broad.mit.edu	37	14	104220583	104220583	+	Splice_Site	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:104220583T>A	ENST00000202556.9	-	6	739		c.e6-2			NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B						intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.?(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				ACGCTGTTCCTAACAAAAGAA	0.428																																							uc001yof.1		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e6-1		apoptosis-stimulating protein of p53, 1							60.0	55.0	56.0					14																	104220583		1834	4085	5919	SO:0001630	splice_region_variant	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104220583T>A	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.457-2A>T	14.37:g.104220583T>A						PPP1R13B_uc001yog.1_Splice_Site_p.E20_splice	p.E153_splice	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			6	740	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)						B2RMX5|O94870	Splice_Site	SNP	ENST00000202556.9	37	c.457_splice	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617273	0.87359	.	.	ENSG00000088808	ENST00000202556;ENST00000380023	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9567	0.79893	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PPP1R13B	103290336	1.000000	0.71417	0.929000	0.37066	0.979000	0.70002	7.590000	0.82653	2.231000	0.72958	0.459000	0.35465	.		0.428	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316	Intron	13	85	0	0	0	0.00245	0	13	85				
GABRG3	2567	broad.mit.edu	37	15	27777961	27777961	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:27777961G>T	ENST00000333743.6	+	10	1592	c.1338G>T	c.(1336-1338)cgG>cgT	p.R446R	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	446					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R446R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|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)	CGTACTCCCGGGTCTTTTTCC	0.478																																					NSCLC(114;800 1656 7410 37729 45293)	NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1336-1338)CGG>CGT		gamma-aminobutyric acid (GABA) A receptor, gamma							73.0	75.0	74.0					15																	27777961		1958	4141	6099	SO:0001819	synonymous_variant	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27777961G>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1338G>T	15.37:g.27777961G>T							p.R446R	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	10	1504	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	446			Helical; (Probable).		G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	c.1338G>T	CCDS45195.1																																																																																				0.478	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			6	44	1	0	0.00198382	0.001984	0.00214179	6	44				
RYR3	6263	broad.mit.edu	37	15	34146975	34146975	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:34146975C>A	ENST00000389232.4	+	98	13939	c.13869C>A	c.(13867-13869)ctC>ctA	p.L4623L	RYR3_ENST00000559917.1_3'UTR|RYR3_ENST00000415757.3_Silent_p.L4618L|RP11-3D4.3_ENST00000560404.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4623					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.L4622L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGTCCTTTCTCTACCTTGCCT	0.423																																							uc001zhi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(13867-13869)CTC>CTA		ryanodine receptor 3							250.0	236.0	241.0					15																	34146975		1957	4161	6118	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34146975C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13869C>A	15.37:g.34146975C>A						RYR3_uc010bar.2_Silent_p.L4618L	p.L4623L	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	98	13939	+		all_lung(180;7.18e-09)	4623			Helical; Name=M7; (Potential).		O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.13869C>A	CCDS45210.1																																																																																				0.423	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			33	196	1	0	8.73648e-17	0.004289	1.44318e-16	33	196				
TYRO3	7301	broad.mit.edu	37	15	41870231	41870231	+	Silent	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:41870231T>C	ENST00000263798.3	+	19	2654	c.2430T>C	c.(2428-2430)gcT>gcC	p.A810A	TYRO3_ENST00000559066.1_Silent_p.A765A	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	810					apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A810A(1)|p.A802A(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TCGAGAGAGCTGAGGAGCCCA	0.602																																							uc001zof.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|lung(2)|central_nervous_system(1)	6						c.(2428-2430)GCT>GCC		TYRO3 protein tyrosine kinase precursor							35.0	38.0	37.0					15																	41870231		2203	4300	6503	SO:0001819	synonymous_variant	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41870231T>C	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.2430T>C	15.37:g.41870231T>C							p.A810A	NM_006293	NP_006284	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	19	2654	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	810			Cytoplasmic (Potential).		O14953|Q86VR3	Silent	SNP	ENST00000263798.3	37	c.2430T>C	CCDS10080.1																																																																																				0.602	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			4	23	0	0	0	0.000602	0	4	23				
LCMT2	9836	broad.mit.edu	37	15	43621794	43621794	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:43621794C>G	ENST00000305641.5	-	1	1009	c.894G>C	c.(892-894)gaG>gaC	p.E298D	ADAL_ENST00000422466.2_5'Flank|ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000544735.1_5'UTR|LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000389651.4_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	298					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)	p.E298D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TCAGATGCCACTCCTCAAATT	0.522																																							uc001zrg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(892-894)GAG>GAC		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						56.0	60.0	59.0					15																	43621794		2201	4299	6500	SO:0001583	missense	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43621794C>G	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.894G>C	15.37:g.43621794C>G	ENSP00000307214:p.Glu298Asp					LCMT2_uc010udn.1_5'UTR|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	p.E298D	NM_014793	NP_055608	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1098	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	298					Q4JFT6|Q96B55|Q9NR10	Missense_Mutation	SNP	ENST00000305641.5	37	c.894G>C	CCDS10094.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633322	0.67015	.	.	ENSG00000168806	ENST00000305641	T	0.29655	1.56	5.39	4.47	0.54385	.	0.000000	0.85682	D	0.000000	T	0.57403	0.2051	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.63937	-0.6524	10	0.87932	D	0	-24.2226	10.2867	0.43570	0.0:0.9101:0.0:0.0899	.	298	O60294	LCMT2_HUMAN	D	298	ENSP00000307214:E298D	ENSP00000307214:E298D	E	-	3	2	LCMT2	41409086	0.995000	0.38212	1.000000	0.80357	0.998000	0.95712	0.226000	0.17776	1.482000	0.48325	0.655000	0.94253	GAG		0.522	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		8	48	0	0	0	0.004482	0	8	48				
FBN1	2200	broad.mit.edu	37	15	48756162	48756162	+	Missense_Mutation	SNP	C	C	A	rs140626	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:48756162C>A	ENST00000316623.5	-	41	5454	c.4999G>T	c.(4999-5001)Gtt>Ttt	p.V1667F		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1667	EGF-like 28; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.V1667F(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TAGTTGCCAACGGTGTTGTAA	0.418																																							uc001zwx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3	GRCh37	CM972812	FBN1	M	rs140626	c.(4999-5001)GTT>TTT		fibrillin 1 precursor							165.0	142.0	150.0					15																	48756162		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48756162C>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4999G>T	15.37:g.48756162C>A	ENSP00000325527:p.Val1667Phe					FBN1_uc010beo.1_RNA	p.V1667F	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	41	5327	-		all_lung(180;0.00279)	1667			EGF-like 28; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.4999G>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162694	0.38217	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.92446	-3.04	5.73	3.67	0.42095	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.050777	0.85682	D	0.000000	D	0.91005	0.7171	L	0.31752	0.955	0.80722	D	1	D	0.60160	0.987	P	0.61397	0.888	D	0.87756	0.2595	10	0.28530	T	0.3	.	10.3859	0.44140	0.0:0.7716:0.0:0.2284	.	1667	P35555	FBN1_HUMAN	F	1667;235;557	ENSP00000325527:V1667F	ENSP00000325527:V1667F	V	-	1	0	FBN1	46543454	0.155000	0.22806	0.209000	0.23619	0.994000	0.84299	0.714000	0.25808	0.762000	0.33152	0.555000	0.69702	GTT		0.418	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			3	29	1	0	0.00024832	0.009096	0.000277565	3	29				
USP8	9101	broad.mit.edu	37	15	50791203	50791203	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:50791203C>G	ENST00000396444.3	+	20	3613	c.3275C>G	c.(3274-3276)tCc>tGc	p.S1092C	USP8_ENST00000425032.3_Missense_Mutation_p.S986C|USP8_ENST00000433963.1_Missense_Mutation_p.S1092C|USP8_ENST00000307179.4_Missense_Mutation_p.S1092C|RP11-562A8.5_ENST00000560159.1_lincRNA|RP11-562A8.4_ENST00000560380.1_RNA|USP50_ENST00000530218.1_5'Flank	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1092	USP.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.S1092C(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TCTGATATCTCCGTTTCTTCT	0.413																																							uc001zym.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(3274-3276)TCC>TGC		ubiquitin specific peptidase 8							86.0	79.0	82.0					15																	50791203		2196	4294	6490	SO:0001583	missense	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50791203C>G	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.3275C>G	15.37:g.50791203C>G	ENSP00000379721:p.Ser1092Cys					USP8_uc001zyl.3_Missense_Mutation_p.S1092C|USP8_uc001zyn.3_Missense_Mutation_p.S1092C|USP8_uc010ufh.1_Missense_Mutation_p.S986C|USP8_uc001zyp.3_Missense_Mutation_p.S259C	p.S1092C	NM_001128611	NP_001122083	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	21	3775	+			1092					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	c.3275C>G	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758039	0.69648	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.54	5.54	0.83059	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.049403	0.85682	D	0.000000	T	0.47801	0.1465	M	0.81942	2.565	0.80722	D	1	B;P	0.37441	0.001;0.595	B;B	0.37387	0.011;0.248	T	0.55642	-0.8109	10	0.87932	D	0	-4.2459	19.8426	0.96695	0.0:1.0:0.0:0.0	.	986;1092	B4DKA8;P40818	.;UBP8_HUMAN	C	1092;1092;1092;986;310;305	ENSP00000379721:S1092C;ENSP00000405537:S1092C;ENSP00000302239:S1092C;ENSP00000412682:S986C	ENSP00000302239:S1092C	S	+	2	0	USP8	48578495	1.000000	0.71417	0.869000	0.34112	0.693000	0.40251	7.256000	0.78350	2.751000	0.94390	0.591000	0.81541	TCC		0.413	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154		7	78	0	0	0	0.001984	0	7	78				
WDR72	256764	broad.mit.edu	37	15	53908074	53908074	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:53908074T>C	ENST00000396328.1	-	15	2568	c.2329A>G	c.(2329-2331)Aaa>Gaa	p.K777E	WDR72_ENST00000557913.1_Missense_Mutation_p.K774E|WDR72_ENST00000360509.5_Missense_Mutation_p.K777E|WDR72_ENST00000559418.1_Missense_Mutation_p.K787E	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	777								p.K777E(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GGCTGCATTTTTTTGGAGATC	0.398																																							uc002acj.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(2329-2331)AAA>GAA		WD repeat domain 72							180.0	172.0	174.0					15																	53908074		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53908074T>C	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2329A>G	15.37:g.53908074T>C	ENSP00000379619:p.Lys777Glu					WDR72_uc010bfi.1_Missense_Mutation_p.K777E	p.K777E	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2371	-			777					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2329A>G	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.833188	0.50951	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.38401	1.14;1.14	5.69	5.69	0.88448	.	0.128592	0.53938	D	0.000053	T	0.33876	0.0878	L	0.34521	1.04	0.31052	N	0.71509	P	0.39665	0.682	B	0.42798	0.398	T	0.32561	-0.9902	10	0.31617	T	0.26	.	15.1307	0.72520	0.0:0.0:0.0:1.0	.	777	Q3MJ13	WDR72_HUMAN	E	777	ENSP00000379619:K777E;ENSP00000353699:K777E	ENSP00000353699:K777E	K	-	1	0	WDR72	51695366	1.000000	0.71417	0.959000	0.39883	0.611000	0.37282	3.268000	0.51585	2.173000	0.68751	0.460000	0.39030	AAA		0.398	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		19	146	0	0	0	0.010504	0	19	146				
UNC13C	440279	broad.mit.edu	37	15	54786898	54786898	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:54786898C>A	ENST00000260323.11	+	19	5026	c.5026C>A	c.(5026-5028)Cct>Act	p.P1676T	UNC13C_ENST00000545554.1_Missense_Mutation_p.P1676T|UNC13C_ENST00000537900.1_Missense_Mutation_p.P1674T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1676	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.P1676N(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCGTGAACTTCCTGCCTTCAA	0.353																																							uc002ack.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|pancreas(2)	7						c.(5026-5028)CCT>ACT		unc-13 homolog C							168.0	162.0	164.0					15																	54786898		1853	4095	5948	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54786898C>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5026C>A	15.37:g.54786898C>A	ENSP00000260323:p.Pro1676Thr						p.P1676T	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	18	5026	+			1676			MHD1.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.5026C>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624809	0.46840	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.80909	-1.42;-1.43;-1.42	5.61	4.67	0.58626	Munc13 homology 1 (1);	0.309269	0.35179	N	0.003390	T	0.79834	0.4514	M	0.87180	2.865	0.40969	D	0.98468	B	0.32573	0.376	B	0.26770	0.073	T	0.80533	-0.1340	10	0.46703	T	0.11	.	10.0816	0.42393	0.0:0.801:0.0:0.199	.	1676	Q8NB66	UN13C_HUMAN	T	1676;1676;1674	ENSP00000260323:P1676T;ENSP00000438156:P1676T;ENSP00000442569:P1674T	ENSP00000260323:P1676T	P	+	1	0	UNC13C	52574190	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.269000	0.51592	2.793000	0.96121	0.655000	0.94253	CCT		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		14	138	1	0	7.93312e-07	0.00245	1.01249e-06	14	138				
IGDCC4	57722	broad.mit.edu	37	15	65682635	65682635	+	Missense_Mutation	SNP	C	C	T	rs185266355		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:65682635C>T	ENST00000352385.2	-	13	2475	c.2266G>A	c.(2266-2268)Gtc>Atc	p.V756I		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	756	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V756I(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TCCGCATGGACGTGGGCTGGA	0.512													C|||	0	0.0	0.0	0.0	5008	,	,		20808	0.0		0.0	False		,,,				2504	0.0						uc002aou.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(2266-2268)GTC>ATC		immunoglobulin superfamily, DCC subclass, member		C	ILE/VAL	0,4402		0,0,2201	83.0	71.0	75.0		2266	5.6	1.0	15		75	10,8588	7.7+/-29.5	0,10,4289	yes	missense	IGDCC4	NM_020962.1	29	0,10,6490	TT,TC,CC		0.1163,0.0,0.0769	possibly-damaging	756/1251	65682635	10,12990	2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65682635C>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.2266G>A	15.37:g.65682635C>T	ENSP00000319623:p.Val756Ile					IGDCC4_uc002aot.1_Missense_Mutation_p.V344I	p.V756I	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			13	2476	-			756			Fibronectin type-III 4.|Extracellular (Potential).		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.2266G>A	CCDS10206.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	18.48	3.633840	0.67130	0.0	0.001163	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.59906	0.23	5.6	5.6	0.85130	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.069253	0.64402	D	0.000010	T	0.44477	0.1295	N	0.17723	0.515	0.46011	D	0.99881	D	0.53619	0.961	B	0.43360	0.417	T	0.42292	-0.9460	10	0.41790	T	0.15	-28.5689	12.8881	0.58055	0.0:0.9256:0.0:0.0744	.	756	Q8TDY8	IGDC4_HUMAN	I	756;485	ENSP00000319623:V756I	ENSP00000319623:V756I	V	-	1	0	IGDCC4	63469688	0.981000	0.34729	0.997000	0.53966	0.971000	0.66376	2.330000	0.43885	2.644000	0.89710	0.655000	0.94253	GTC		0.512	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		4	24	0	0	0	0.009096	0	4	24				
CORO2B	10391	broad.mit.edu	37	15	69011757	69011757	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:69011757G>T	ENST00000566799.1	+	11	1206	c.1177G>T	c.(1177-1179)Gtg>Ttg	p.V393L	CORO2B_ENST00000540068.1_Missense_Mutation_p.V388L|CORO2B_ENST00000261861.5_Missense_Mutation_p.V388L|CORO2B_ENST00000543950.1_Missense_Mutation_p.V388L			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	393					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.V393L(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TTTAGATCCCGTGCTGATGTC	0.473																																							uc002arj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|large_intestine(1)	6						c.(1177-1179)GTG>TTG		coronin, actin binding protein, 2B							160.0	150.0	154.0					15																	69011757		2200	4298	6498	SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:69011757G>T	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.1177G>T	15.37:g.69011757G>T	ENSP00000454783:p.Val393Leu					CORO2B_uc010bic.2_Missense_Mutation_p.V388L|CORO2B_uc002ark.2_Missense_Mutation_p.V160L	p.V393L	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN			11	1206	+			393					A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	c.1177G>T	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	G	11.85	1.761756	0.31228	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.28666	1.6;1.6	5.49	5.49	0.81192	Domain of unknown function DUF1900 (1);	0.714559	0.13337	N	0.395500	T	0.23926	0.0579	L	0.28649	0.875	0.52501	D	0.999953	B	0.06786	0.001	B	0.15870	0.014	T	0.04565	-1.0942	10	0.22706	T	0.39	-28.5653	12.3537	0.55163	0.0821:0.0:0.9179:0.0	.	393	Q9UQ03	COR2B_HUMAN	L	393;388;388	ENSP00000446250:V388L;ENSP00000443819:V388L	ENSP00000261861:V393L	V	+	1	0	CORO2B	66798811	1.000000	0.71417	0.992000	0.48379	0.927000	0.56198	5.859000	0.69539	2.582000	0.87167	0.462000	0.41574	GTG		0.473	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		5	103	1	0	3.59834e-05	0.001168	4.21623e-05	5	103				
NOX5	79400	broad.mit.edu	37	15	69320705	69320705	+	Splice_Site	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:69320705G>T	ENST00000388866.3	+	3	366	c.325G>T	c.(325-327)Gtg>Ttg	p.V109L	NOX5_ENST00000448182.3_Splice_Site_p.G91C|NOX5_ENST00000455873.3_Splice_Site_p.G102C|NOX5_ENST00000260364.5_Splice_Site_p.V91L|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000530406.2_Splice_Site_p.G109C	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	109	EF-hand 3; atypical; contains an insert of 28 residues. {ECO:0000255|PROSITE- ProRule:PRU00448}.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.V91L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGACATCGATGGTAAGGGCTC	0.597																																							uc002ars.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|pancreas(1)	2						c.(325-327)GTG>TTG		NADPH oxidase, EF-hand calcium binding domain 5							103.0	99.0	100.0					15																	69320705		2200	4298	6498	SO:0001630	splice_region_variant	79400				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69320705G>T	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.325+1G>T	15.37:g.69320705G>T						NOX5_uc002arp.1_Missense_Mutation_p.V91L|NOX5_uc002arq.1_Missense_Mutation_p.G91C|NOX5_uc010bid.1_Missense_Mutation_p.G102C|NOX5_uc002arr.1_Missense_Mutation_p.G109C|NOX5_uc010bie.1_5'UTR	p.V109L	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			3	345	+			109			Cytoplasmic (Potential).|EF-hand 3; atypical; contains an insert of 28 residues.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.325G>T	CCDS32276.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.00|12.00	1.807571|1.807571	0.31961|0.31961	.|.	.|.	ENSG00000255346|ENSG00000255346	ENST00000455873;ENST00000530406|ENST00000448182;ENST00000388866	T;T|T	0.74315|0.28666	-0.83;-0.83|1.6	3.77|3.77	3.77|3.77	0.43336|0.43336	.|EF-hand-like domain (1);	.|0.862611	.|0.09831	.|U	.|0.750254	T|T	0.28466|0.28466	0.0704|0.0704	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	B;B|B	0.26002|0.17038	0.13;0.139|0.02	B;B|B	0.28638|0.12156	0.04;0.092|0.007	T|T	0.04708|0.04708	-1.0932|-1.0932	9|10	0.72032|0.19590	D|T	0.01|0.45	.|.	14.1764|14.1764	0.65544|0.65544	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	102;109|109	Q96PH1-6;Q96PH1-3|Q96PH1	.;.|NOX5_HUMAN	C|L	102;109|91;109	ENSP00000416828:G102C;ENSP00000432440:G109C|ENSP00000373518:V109L	ENSP00000432440:G109C|ENSP00000373518:V109L	G|V	+|+	1|1	0|0	NOX5|NOX5	67107759|67107759	1.000000|1.000000	0.71417|0.71417	0.560000|0.560000	0.28344|0.28344	0.055000|0.055000	0.15305|0.15305	7.910000|7.910000	0.87451|0.87451	1.657000|1.657000	0.50732|0.50732	0.491000|0.491000	0.48974|0.48974	GGC|GTG		0.597	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505	Missense_Mutation	12	75	1	0	1.3612e-06	0.003163	1.72463e-06	12	75				
MYO9A	4649	broad.mit.edu	37	15	72191281	72191281	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:72191281C>G	ENST00000356056.5	-	25	4035	c.3563G>C	c.(3562-3564)gGt>gCt	p.G1188A	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.G808A|MYO9A_ENST00000424560.1_Missense_Mutation_p.G1188A|MYO9A_ENST00000444904.1_Missense_Mutation_p.G1169A|MYO9A_ENST00000564571.1_Missense_Mutation_p.G1188A	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1188	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.G1188A(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGGGTCTGAACCCTGAATTTC	0.358																																							uc002atl.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3562-3564)GGT>GCT		myosin IXA							161.0	169.0	167.0					15																	72191281		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72191281C>G	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3563G>C	15.37:g.72191281C>G	ENSP00000348349:p.Gly1188Ala					MYO9A_uc010biq.2_Missense_Mutation_p.G808A|MYO9A_uc002atn.1_Missense_Mutation_p.G1169A|MYO9A_uc002atk.2_5'UTR|MYO9A_uc002atm.1_5'UTR	p.G1188A	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			25	4036	-			1188			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.3563G>C	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563124	0.65538	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904	D;D;D	0.84589	-1.87;-1.87;-1.87	4.91	4.91	0.64330	.	.	.	.	.	D	0.84772	0.5546	L	0.34521	1.04	0.58432	D	0.999999	D;P	0.65815	0.995;0.857	P;B	0.56163	0.793;0.253	T	0.81750	-0.0790	9	0.18710	T	0.47	.	16.3	0.82806	0.0:1.0:0.0:0.0	.	1169;1188	B2RTY4-2;B2RTY4	.;MYO9A_HUMAN	A	1188;1188;1169	ENSP00000348349:G1188A;ENSP00000399162:G1188A;ENSP00000398250:G1169A	ENSP00000348349:G1188A	G	-	2	0	MYO9A	69978335	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.471000	0.73562	2.277000	0.76020	0.585000	0.79938	GGT		0.358	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		7	182	0	0	0	0.00333	0	7	182				
MYO9A	4649	broad.mit.edu	37	15	72191292	72191292	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:72191292C>A	ENST00000356056.5	-	25	4024	c.3552G>T	c.(3550-3552)ctG>ctT	p.L1184L	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Silent_p.L804L|MYO9A_ENST00000424560.1_Silent_p.L1184L|MYO9A_ENST00000444904.1_Silent_p.L1165L|MYO9A_ENST00000564571.1_Silent_p.L1184L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1184	Tail.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)	p.L1184L(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCTGAATTTCCAGAGATCCAT	0.348																																							uc002atl.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3550-3552)CTG>CTT		myosin IXA							161.0	172.0	168.0					15																	72191292		2199	4297	6496	SO:0001819	synonymous_variant	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72191292C>A	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.3552G>T	15.37:g.72191292C>A						MYO9A_uc010biq.2_Silent_p.L804L|MYO9A_uc002atn.1_Silent_p.L1165L|MYO9A_uc002atk.2_5'UTR|MYO9A_uc002atm.1_5'UTR	p.L1184L	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN			25	4025	-			1184			Tail.		B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Silent	SNP	ENST00000356056.5	37	c.3552G>T	CCDS10239.1																																																																																				0.348	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		12	191	1	0	7.01153e-11	0.007291	1.03099e-10	12	191				
PARP6	56965	broad.mit.edu	37	15	72533888	72533888	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:72533888C>A	ENST00000569795.1	-	24	2488	c.1801G>T	c.(1801-1803)Ggt>Tgt	p.G601C	PARP6_ENST00000287196.9_Missense_Mutation_p.G601C|PARP6_ENST00000260376.7_3'UTR|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	601	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.G601C(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CCCACCTGACCATCCTCATAT	0.463																																							uc002auc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1801-1803)GGT>TGT		poly (ADP-ribose) polymerase family, member 6							84.0	81.0	82.0					15																	72533888		1993	4172	6165	SO:0001583	missense	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72533888C>A	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1801G>T	15.37:g.72533888C>A	ENSP00000456348:p.Gly601Cys					PARP6_uc002aua.2_Missense_Mutation_p.G447C|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA	p.G601C	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN			23	2260	-			601			PARP catalytic.		Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	c.1801G>T	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337848	0.81911	.	.	ENSG00000137817	ENST00000287196	.	.	.	4.8	4.8	0.61643	Poly(ADP-ribose) polymerase, catalytic domain (1);	0.073447	0.53938	U	0.000049	T	0.77170	0.4091	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	T	0.79569	-0.1749	9	0.72032	D	0.01	-21.7118	17.0645	0.86556	0.0:1.0:0.0:0.0	.	601;534	Q2NL67;A0PJ50	PARP6_HUMAN;.	C	601	.	ENSP00000287196:G601C	G	-	1	0	PARP6	70320942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.528000	0.81941	2.488000	0.83962	0.650000	0.86243	GGT		0.463	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		6	38	1	0	3.59834e-05	0.001168	4.21623e-05	6	38				
AP3B2	8120	broad.mit.edu	37	15	83328316	83328316	+	Missense_Mutation	SNP	T	T	A	rs570447805		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:83328316T>A	ENST00000261722.3	-	26	3452	c.3245A>T	c.(3244-3246)cAg>cTg	p.Q1082L	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.Q1101L|AP3B2_ENST00000535348.1_Missense_Mutation_p.Q1050L	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	1082					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.Q1081L(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGGAAGTCACTGGGTCAGAGC	0.527																																							uc010uoh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(3244-3246)CAG>CTG		adaptor-related protein complex 3, beta 2							105.0	100.0	101.0					15																	83328316		2052	4198	6250	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83328316T>A	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.3245A>T	15.37:g.83328316T>A	ENSP00000261722:p.Gln1082Leu					AP3B2_uc010uoi.1_Missense_Mutation_p.Q1101L|AP3B2_uc010uoj.1_Missense_Mutation_p.Q1050L|AP3B2_uc010bmp.2_Missense_Mutation_p.Q145L|AP3B2_uc010uog.1_Missense_Mutation_p.Q718L	p.Q1082L	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		26	3422	-			1082					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.3245A>T	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.842396	0.51057	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.60171	0.23;0.21;0.21	4.88	2.54	0.30619	.	0.060491	0.64402	D	0.000002	T	0.63803	0.2542	L	0.51853	1.615	0.80722	D	1	D;B;B	0.65815	0.995;0.079;0.079	P;B;B	0.62298	0.9;0.031;0.031	T	0.62397	-0.6863	10	0.87932	D	0	.	8.0854	0.30769	0.0:0.1761:0.0:0.8239	.	1050;1101;1082	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	L	1082;1050;1101	ENSP00000261722:Q1082L;ENSP00000438721:Q1050L;ENSP00000440984:Q1101L	ENSP00000261722:Q1082L	Q	-	2	0	AP3B2	81125371	1.000000	0.71417	0.605000	0.28930	0.826000	0.46750	3.750000	0.55157	0.313000	0.23062	0.379000	0.24179	CAG		0.527	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			11	52	0	0	0	0.001855	0	11	52				
ZSCAN2	54993	broad.mit.edu	37	15	85165222	85165222	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:85165222C>A	ENST00000448803.2	+	3	2088	c.1796C>A	c.(1795-1797)tCt>tAt	p.S599Y	ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.S598Y|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.S449Y|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.S599Y|ZSCAN2_ENST00000538076.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	599					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S599Y(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AGCAACAGCTCTAACTTTATC	0.483																																							uc002bkr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1795-1797)TCT>TAT		zinc finger protein 29 isoform 1							66.0	71.0	69.0					15																	85165222		2203	4299	6502	SO:0001583	missense	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85165222C>A	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1796C>A	15.37:g.85165222C>A	ENSP00000410198:p.Ser599Tyr					ZSCAN2_uc010bmz.1_Missense_Mutation_p.S597Y|ZSCAN2_uc010bna.2_Missense_Mutation_p.S449Y|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	p.S599Y	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	2022	+			599			C2H2-type 14.		A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	37	c.1796C>A	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	C	15.10	2.732356	0.48939	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	5.04	5.04	0.67666	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000040	T	0.51787	0.1695	M	0.64567	1.98	0.80722	D	1	D;B	0.69078	0.997;0.275	D;B	0.70935	0.971;0.068	T	0.48980	-0.8986	9	.	.	.	-33.3408	15.8723	0.79129	0.0:1.0:0.0:0.0	.	599;599	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	Y	599;599;449;598;580	ENSP00000410198:S599Y;ENSP00000445451:S599Y;ENSP00000351257:S449Y;ENSP00000325123:S598Y	.	S	+	2	0	ZSCAN2	82966226	0.916000	0.31088	1.000000	0.80357	0.968000	0.65278	3.069000	0.50026	2.346000	0.79739	0.655000	0.94253	TCT		0.483	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		12	68	1	0	0.00010058	0.001368	0.000115011	12	68				
C15orf32	145858	broad.mit.edu	37	15	93016280	93016280	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr15:93016280C>T	ENST00000333334.2	+	2	967	c.472C>T	c.(472-474)Ctt>Ttt	p.L158F	RP11-763K15.1_ENST00000554440.1_lincRNA|C15orf32_ENST00000556865.1_Missense_Mutation_p.L158F	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	158								p.L158F(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			GAAGAGGCATCTTATGAGAGT	0.468																																							uc002brc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(472-474)CTT>TTT		hypothetical protein LOC145858							109.0	105.0	107.0					15																	93016280		2198	4298	6496	SO:0001583	missense	145858							g.chr15:93016280C>T		CCDS10373.1, CCDS73784.1	15q26.1	2014-09-10			ENSG00000183643	ENSG00000183643			26549	protein-coding gene	gene with protein product							Standard	NM_153040		Approved	FLJ32831	uc002brc.1	Q32M92	OTTHUMG00000149844	ENST00000333334.2:c.472C>T	15.37:g.93016280C>T	ENSP00000330267:p.Leu158Phe					C15orf32_uc010bod.1_RNA	p.L158F	NM_153040	NP_694585	Q32M92	CO032_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)		2	944	+	Lung NSC(78;0.0893)|all_lung(78;0.125)		158					C5HTZ8|Q96M45	Missense_Mutation	SNP	ENST00000333334.2	37	c.472C>T	CCDS10373.1	.	.	.	.	.	.	.	.	.	.	C	10.29	1.310173	0.23821	.	.	ENSG00000183643	ENST00000333334	T	0.57273	0.41	2.19	2.19	0.27852	.	.	.	.	.	T	0.45637	0.1352	N	0.14661	0.345	0.09310	N	1	D	0.65815	0.995	P	0.55011	0.766	T	0.27191	-1.0081	9	0.87932	D	0	.	7.9505	0.30012	0.0:1.0:0.0:0.0	.	158	Q32M92	CO032_HUMAN	F	158	ENSP00000330267:L158F	ENSP00000330267:L158F	L	+	1	0	C15orf32	90817284	0.005000	0.15991	0.014000	0.15608	0.116000	0.19942	0.484000	0.22308	1.534000	0.49203	0.455000	0.32223	CTT		0.468	C15orf32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313527.2	NM_153040		10	79	0	0	0	0.008291	0	10	79				
EME2	197342	broad.mit.edu	37	16	1826213	1826213	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:1826213G>C	ENST00000568449.1	+	8	1135	c.1114G>C	c.(1114-1116)Gat>Cat	p.D372H	EME2_ENST00000307394.7_Missense_Mutation_p.D437H	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	372					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)	p.D452H(1)|p.D437H(1)		central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						AGCCAACCCTGATCTCCTGCT	0.692								Direct reversal of damage;Homologous recombination																															uc002cmq.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(1309-1311)GAT>CAT	Direct_reversal_of_damage|Homologous_recombination	essential meiotic endonuclease 1 homolog 2							73.0	63.0	67.0					16																	1826213		2172	4249	6421	SO:0001583	missense	197342				DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	g.chr16:1826213G>C	AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.1114G>C	16.37:g.1826213G>C	ENSP00000457353:p.Asp372His					EME2_uc010brw.1_Missense_Mutation_p.D372H	p.D437H	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN			8	1309	+			372					Q8TEP2|Q96RY3	Missense_Mutation	SNP	ENST00000568449.1	37	c.1309G>C	CCDS58404.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.715066	0.30413	.	.	ENSG00000197774	ENST00000307394;ENST00000454910	.	.	.	3.49	3.49	0.39957	.	0.137501	0.32473	N	0.006056	T	0.69333	0.3099	M	0.69358	2.11	0.38065	D	0.936198	D;D	0.76494	0.999;0.999	D;D	0.66847	0.936;0.947	T	0.71006	-0.4717	9	0.32370	T	0.25	-14.7596	12.1984	0.54311	0.0:0.0:1.0:0.0	.	372;238	A4GXA9;A4GXA9-2	EME2_HUMAN;.	H	437;379	.	ENSP00000303779:D437H	D	+	1	0	EME2	1766214	0.218000	0.23608	0.257000	0.24404	0.076000	0.17211	2.218000	0.42889	1.949000	0.56562	0.561000	0.74099	GAT		0.692	EME2-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433185.2	NM_001010865		21	74	0	0	0	0.004656	0	21	74				
TSC2	7249	broad.mit.edu	37	16	2110757	2110757	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:2110757G>T	ENST00000219476.3	+	11	1692	c.1062G>T	c.(1060-1062)caG>caT	p.Q354H	TSC2_ENST00000382538.6_Missense_Mutation_p.Q305H|TSC2_ENST00000353929.4_Missense_Mutation_p.Q354H|TSC2_ENST00000568454.1_Missense_Mutation_p.Q365H|TSC2_ENST00000439673.2_Missense_Mutation_p.Q317H|TSC2_ENST00000401874.2_Missense_Mutation_p.Q354H|TSC2_ENST00000350773.4_Missense_Mutation_p.Q354H	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	354	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.Q354H(1)|p.V355L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AGGAGCTCCAGGTGGTGGCGT	0.602			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														uc002con.2		NA	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	D|Mis|N|F|S	tuberous sclerosis 2 gene			"""E, O"""		hamartoma|renal cell			2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10						c.(1060-1062)CAG>CAT		tuberous sclerosis 2 isoform 1							155.0	129.0	138.0					16																	2110757		2198	4300	6498	SO:0001583	missense	7249	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2110757G>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1062G>T	16.37:g.2110757G>T	ENSP00000219476:p.Gln354His					TSC2_uc010bsd.2_Missense_Mutation_p.Q354H|TSC2_uc002coo.2_Missense_Mutation_p.Q354H|TSC2_uc010uvv.1_Missense_Mutation_p.Q317H|TSC2_uc010uvw.1_Missense_Mutation_p.Q305H|TSC2_uc002cop.2_Missense_Mutation_p.Q154H	p.Q354H	NM_000548	NP_000539	P49815	TSC2_HUMAN			11	1168	+		Hepatocellular(780;0.0202)	354			Required for interaction with TSC1.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.1062G>T	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	.	9.027	0.986338	0.18889	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	T;T;T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37;-1.37;-1.37	4.6	1.47	0.22746	Armadillo-like helical (1);Armadillo-type fold (1);Tuberin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83945	0.5364	L	0.60455	1.87	0.58432	D	0.999996	P;D;P;D;B;D	0.76494	0.793;0.999;0.729;0.997;0.383;0.997	P;D;P;D;B;D	0.91635	0.78;0.999;0.537;0.998;0.348;0.996	T	0.79122	-0.1933	10	0.15499	T	0.54	-26.2977	10.3922	0.44179	0.3509:0.0:0.6491:0.0	.	305;317;354;354;354;354	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	H	354;354;354;317;305;354	ENSP00000219476:Q354H;ENSP00000384468:Q354H;ENSP00000248099:Q354H;ENSP00000399232:Q317H;ENSP00000371978:Q305H;ENSP00000344383:Q354H	ENSP00000219476:Q354H	Q	+	3	2	TSC2	2050758	1.000000	0.71417	0.982000	0.44146	0.029000	0.11900	2.783000	0.47766	0.476000	0.27440	0.561000	0.74099	CAG		0.602	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		21	80	1	0	2.4624e-09	0.008871	3.48339e-09	21	80				
RNPS1	10921	broad.mit.edu	37	16	2312759	2312759	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:2312759G>A	ENST00000565678.1	-	5	1049	c.504C>T	c.(502-504)ctC>ctT	p.L168L	RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000568631.1_Silent_p.L168L|RNPS1_ENST00000567147.1_Silent_p.L145L|RNPS1_ENST00000320225.5_Silent_p.L168L|RNPS1_ENST00000301730.8_Silent_p.L168L|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000566458.1_Silent_p.L145L|RNPS1_ENST00000569598.2_Silent_p.L74L|RNPS1_ENST00000397086.2_Silent_p.L168L			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	168	Interaction with SAP18 and ACIN1.|Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L168L(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						CATTCCGGGTGAGTCTCCCAA	0.502																																							uc002cpt.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(502-504)CTC>CTT		RNA-binding protein S1, serine-rich domain							131.0	109.0	116.0					16																	2312759		2198	4300	6498	SO:0001819	synonymous_variant	10921				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr16:2312759G>A	AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"""RNA binding motif (RRM) containing"""	10080	protein-coding gene	gene with protein product		606447	"""RNA-binding protein S1, serine-rich domain"""			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.504C>T	16.37:g.2312759G>A						RNPS1_uc002cpu.2_Silent_p.L168L|RNPS1_uc002cpv.2_5'UTR|RNPS1_uc002cpw.2_Silent_p.L168L|RNPS1_uc002cpx.2_Silent_p.L145L|RNPS1_uc010uwa.1_RNA	p.L168L	NM_080594	NP_542161	Q15287	RNPS1_HUMAN			5	1050	-			168			Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM.		A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Silent	SNP	ENST00000565678.1	37	c.504C>T	CCDS10465.1																																																																																				0.502	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435415.1	NM_080594		8	87	0	0	0	0.00308	0	8	87				
PRSS27	83886	broad.mit.edu	37	16	2766520	2766520	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:2766520C>T	ENST00000302641.3	-	2	108	c.54G>A	c.(52-54)caG>caA	p.Q18Q		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	18						extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.Q18Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCTTGGCCCTCTGAGACCCTG	0.662																																							uc002crf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(52-54)CAG>CAA		marapsin precursor							51.0	42.0	45.0					16																	2766520		2198	4300	6498	SO:0001819	synonymous_variant	83886				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:2766520C>T	AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"""Serine peptidases / Serine peptidases"""	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.54G>A	16.37:g.2766520C>T						PRSS27_uc002cre.2_5'Flank|PRSS27_uc002crg.2_5'UTR|PRSS27_uc010bst.1_5'UTR	p.Q18Q	NM_031948	NP_114154	Q9BQR3	PRS27_HUMAN			2	445	-			18						Silent	SNP	ENST00000302641.3	37	c.54G>A	CCDS10476.1																																																																																				0.662	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250908.1	NM_031948		4	13	0	0	0	0.000602	0	4	13				
MMP25	64386	broad.mit.edu	37	16	3100498	3100498	+	Silent	SNP	C	C	T	rs543430503		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:3100498C>T	ENST00000336577.4	+	4	849	c.612C>T	c.(610-612)tcC>tcT	p.S204S	MMP25_ENST00000570755.1_3'UTR|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	213					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S128S(1)|p.S204S(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	ACCCCATCTCCGGGGACACTC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		19084	0.001		0.0	False		,,,				2504	0.0				NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	uc002cth.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(610-612)TCC>TCT		matrix metalloproteinase 25 preproprotein							44.0	47.0	46.0					16																	3100498		2197	4300	6497	SO:0001819	synonymous_variant	64386				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr16:3100498C>T	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.612C>T	16.37:g.3100498C>T						MMP25_uc002cti.1_Silent_p.S140S	p.S204S	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN			4	849	+			204					Q96F04|Q96TE2	Silent	SNP	ENST00000336577.4	37	c.612C>T	CCDS10492.1																																																																																				0.562	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437116.1	NM_022468		4	64	0	0	0	0.000602	0	4	64				
ZNF597	146434	broad.mit.edu	37	16	3486959	3486959	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:3486959C>G	ENST00000301744.4	-	4	975	c.740G>C	c.(739-741)aGa>aCa	p.R247T		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	247					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R247T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						CATAAAACCTCTACCACATAT	0.448																																							uc002cvd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(739-741)AGA>ACA		zinc finger protein 597							106.0	105.0	105.0					16																	3486959		2197	4300	6497	SO:0001583	missense	146434				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3486959C>G	AK057633	CCDS10505.1	16p13.3	2013-01-08			ENSG00000167981	ENSG00000167981		"""Zinc fingers, C2H2-type"", ""-"""	26573	protein-coding gene	gene with protein product		614685				12477932	Standard	NM_152457		Approved	FLJ33071	uc002cvd.3	Q96LX8	OTTHUMG00000129359	ENST00000301744.4:c.740G>C	16.37:g.3486959C>G	ENSP00000301744:p.Arg247Thr						p.R247T	NM_152457	NP_689670	Q96LX8	ZN597_HUMAN			4	924	-			247			C2H2-type 4.			Missense_Mutation	SNP	ENST00000301744.4	37	c.740G>C	CCDS10505.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.420680	0.25639	.	.	ENSG00000167981	ENST00000301744	T	0.35048	1.33	4.81	-0.633	0.11519	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.580895	0.15601	N	0.253907	T	0.37019	0.0988	M	0.70595	2.14	0.09310	N	1	P	0.43231	0.801	B	0.43225	0.412	T	0.30238	-0.9985	10	0.87932	D	0	-4.6848	8.1931	0.31381	0.0:0.3591:0.0:0.6409	.	247	Q96LX8	ZN597_HUMAN	T	247	ENSP00000301744:R247T	ENSP00000301744:R247T	R	-	2	0	ZNF597	3426960	0.129000	0.22400	0.001000	0.08648	0.005000	0.04900	1.149000	0.31626	0.030000	0.15379	0.585000	0.79938	AGA		0.448	ZNF597-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251511.2	NM_152457		4	113	0	0	0	0.009096	0	4	113				
TFAP4	7023	broad.mit.edu	37	16	4310163	4310163	+	Silent	SNP	G	G	A	rs576796776		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:4310163G>A	ENST00000204517.6	-	6	1078	c.750C>T	c.(748-750)gtC>gtT	p.V250V		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	250					cellular response to dexamethasone stimulus (GO:0071549)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001269)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone deacetylase binding (GO:0042826)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.V250V(1)		NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CCATGGTGACGACATTGATGT	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		11371	0.0		0.0	False		,,,				2504	0.001						uc010uxg.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(748-750)GTC>GTT		transcription factor AP-4 (activating enhancer							113.0	101.0	105.0					16																	4310163		2197	4300	6497	SO:0001819	synonymous_variant	7023				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:4310163G>A	X57435	CCDS10510.1	16p13	2013-05-21	2001-11-28		ENSG00000090447	ENSG00000090447		"""Basic helix-loop-helix proteins"""	11745	protein-coding gene	gene with protein product		600743	"""transcription factor AP-4 (activating enhancer-binding protein 4)"""			2123466	Standard	NM_003223		Approved	AP-4, bHLHc41	uc010uxg.2	Q01664	OTTHUMG00000129435	ENST00000204517.6:c.750C>T	16.37:g.4310163G>A							p.V250V	NM_003223	NP_003214	Q01664	TFAP4_HUMAN			6	1004	-			250					O60409	Silent	SNP	ENST00000204517.6	37	c.750C>T	CCDS10510.1																																																																																				0.622	TFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251595.2	NM_003223		15	118	0	0	0	0.003163	0	15	118				
PPL	5493	broad.mit.edu	37	16	4934045	4934045	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:4934045C>T	ENST00000345988.2	-	22	4700	c.4611G>A	c.(4609-4611)gtG>gtA	p.V1537V	PPL_ENST00000590782.2_Silent_p.V1535V	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1537					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.V1537V(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCAGCCGGCTCACCTCGACGT	0.572																																							uc002cyd.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4609-4611)GTG>GTA		periplakin							71.0	70.0	70.0					16																	4934045		2197	4300	6497	SO:0001819	synonymous_variant	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934045C>T	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.4611G>A	16.37:g.4934045C>T							p.V1537V	NM_002705	NP_002696	O60437	PEPL_HUMAN			22	4701	-			1537			Potential.		O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	c.4611G>A	CCDS10526.1																																																																																				0.572	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		5	93	0	0	0	0.000602	0	5	93				
PARN	5073	broad.mit.edu	37	16	14540932	14540932	+	Silent	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:14540932T>A	ENST00000437198.2	-	23	1818	c.1677A>T	c.(1675-1677)acA>acT	p.T559T	PARN_ENST00000420015.2_Silent_p.T513T|PARN_ENST00000539279.1_Silent_p.T384T|PARN_ENST00000341484.7_Silent_p.T498T	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	559					female gamete generation (GO:0007292)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA metabolic process (GO:0016070)|RNA modification (GO:0009451)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|nuclease activity (GO:0004518)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(A)-specific ribonuclease activity (GO:0004535)|protein kinase binding (GO:0019901)	p.T559T(2)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TGCTGGGAGCTGTAAAACTGA	0.408																																							uc010uzd.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(1675-1677)ACA>ACT		poly(A)-specific ribonuclease (deadenylation							53.0	51.0	52.0					16																	14540932		1880	4114	5994	SO:0001819	synonymous_variant	5073				female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding	g.chr16:14540932T>A	AJ005698	CCDS45419.1, CCDS45420.1, CCDS58425.1	16p13	2014-08-08	2011-07-07		ENSG00000140694	ENSG00000140694	3.1.13.4		8609	protein-coding gene	gene with protein product	"""deadenylation nuclease"""	604212	"""poly(A)-specific ribonuclease (deadenylation nuclease)"""			10640832	Standard	NM_002582		Approved	DAN	uc010uzd.2	O95453	OTTHUMG00000173199	ENST00000437198.2:c.1677A>T	16.37:g.14540932T>A						PARN_uc010uzc.1_Silent_p.T498T|PARN_uc010uze.1_Silent_p.T513T|PARN_uc010uzf.1_Silent_p.T384T	p.T559T	NM_002582	NP_002573	O95453	PARN_HUMAN			23	1819	-			559					B2RCB3|B4DDG8|B4DWR4|B4E1H6	Silent	SNP	ENST00000437198.2	37	c.1677A>T	CCDS45419.1																																																																																				0.408	PARN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422383.1	NM_002582		7	44	0	0	0	0.00308	0	7	44				
XYLT1	64131	broad.mit.edu	37	16	17211722	17211722	+	Missense_Mutation	SNP	C	C	T	rs181524912	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:17211722C>T	ENST00000261381.6	-	11	2422	c.2338G>A	c.(2338-2340)Gtg>Atg	p.V780M		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	780					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.V780M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATGACGGTCACGGTCACATTA	0.557													C|||	4	0.000798722	0.0	0.0029	5008	,	,		18799	0.001		0.001	False		,,,				2504	0.0						uc002dfa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2338-2340)GTG>ATG		xylosyltransferase I		C	MET/VAL	1,4393	2.1+/-5.4	0,1,2196	186.0	152.0	163.0		2338	5.0	1.0	16		163	0,8600		0,0,4300	yes	missense	XYLT1	NM_022166.3	21	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	780/960	17211722	1,12993	2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17211722C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2338G>A	16.37:g.17211722C>T	ENSP00000261381:p.Val780Met						p.V780M	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			11	2423	-			780			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.2338G>A	CCDS10569.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	1	0.0017482517482517483	1	0.0013192612137203166	C	25.6	4.656748	0.88154	2.28E-4	0.0	ENSG00000103489	ENST00000261381	T	0.51817	0.69	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.67757	0.2927	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.71213	-0.4659	10	0.72032	D	0.01	-34.2276	17.5957	0.88011	0.0:1.0:0.0:0.0	.	780	Q86Y38	XYLT1_HUMAN	M	780	ENSP00000261381:V780M	ENSP00000261381:V780M	V	-	1	0	XYLT1	17119223	1.000000	0.71417	0.975000	0.42487	0.859000	0.49053	7.814000	0.86154	2.446000	0.82766	0.462000	0.41574	GTG		0.557	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		8	65	0	0	0	0.00308	0	8	65				
XYLT1	64131	broad.mit.edu	37	16	17232324	17232324	+	Missense_Mutation	SNP	C	C	A	rs550041464		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:17232324C>A	ENST00000261381.6	-	8	1736	c.1652G>T	c.(1651-1653)cGc>cTc	p.R551L	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	551					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.R551L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTTGGTGATGCGCAGGTTGTT	0.597																																							uc002dfa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1651-1653)CGC>CTC		xylosyltransferase I							127.0	100.0	109.0					16																	17232324		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17232324C>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1652G>T	16.37:g.17232324C>A	ENSP00000261381:p.Arg551Leu						p.R551L	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			8	1737	-			551			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.1652G>T	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	33	5.247491	0.95305	.	.	ENSG00000103489	ENST00000261381	T	0.13657	2.57	4.73	4.73	0.59995	.	0.096318	0.64402	D	0.000001	T	0.20901	0.0503	M	0.71206	2.165	0.80722	D	1	B	0.26809	0.16	B	0.27796	0.083	T	0.04811	-1.0925	10	0.87932	D	0	-35.9163	16.8762	0.86052	0.0:1.0:0.0:0.0	.	551	Q86Y38	XYLT1_HUMAN	L	551	ENSP00000261381:R551L	ENSP00000261381:R551L	R	-	2	0	XYLT1	17139825	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.561000	0.82288	2.456000	0.83038	0.655000	0.94253	CGC		0.597	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		8	51	1	0	7.48243e-07	0.006214	9.59663e-07	8	51				
XYLT1	64131	broad.mit.edu	37	16	17294420	17294420	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:17294420G>T	ENST00000261381.6	-	4	1089	c.1005C>A	c.(1003-1005)caC>caA	p.H335Q		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	335					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.H335Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGGCACGGCCGTGGACCACCA	0.567																																							uc002dfa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1003-1005)CAC>CAA		xylosyltransferase I							230.0	194.0	206.0					16																	17294420		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17294420G>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.1005C>A	16.37:g.17294420G>T	ENSP00000261381:p.His335Gln						p.H335Q	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			4	1090	-			335			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.1005C>A	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022494	0.75275	.	.	ENSG00000103489	ENST00000261381	T	0.12039	2.72	5.18	-2.48	0.06423	.	0.000000	0.85682	D	0.000000	T	0.36908	0.0984	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41360	-0.9513	10	0.87932	D	0	-38.1447	11.1908	0.48683	0.6807:0.0:0.3193:0.0	.	335	Q86Y38	XYLT1_HUMAN	Q	335	ENSP00000261381:H335Q	ENSP00000261381:H335Q	H	-	3	2	XYLT1	17201921	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	1.019000	0.30014	-0.276000	0.09206	-0.136000	0.14681	CAC		0.567	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		29	132	1	0	1.39806e-14	0.008361	2.22157e-14	29	132				
GP2	2813	broad.mit.edu	37	16	20329602	20329602	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:20329602C>A	ENST00000381362.4	-	8	1243	c.1167G>T	c.(1165-1167)ggG>ggT	p.G389G	GP2_ENST00000381360.5_Silent_p.G242G|GP2_ENST00000302555.5_Silent_p.G386G|GP2_ENST00000573897.1_5'Flank|GP2_ENST00000341642.5_Silent_p.G239G	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	389	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.G386G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGGAGGTGTCCCCTTGTTCCA	0.502																																							uc002dgv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1165-1167)GGG>GGT		zymogen granule membrane glycoprotein 2 isoform							233.0	183.0	200.0					16																	20329602		2203	4300	6503	SO:0001819	synonymous_variant	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20329602C>A	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1167G>T	16.37:g.20329602C>A						GP2_uc002dgw.2_Silent_p.G386G|GP2_uc002dgx.2_Silent_p.G242G|GP2_uc002dgy.2_Silent_p.G239G	p.G389G	NM_001007240	NP_001007241	P55259	GP2_HUMAN			8	1250	-			389			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	ENST00000381362.4	37	c.1167G>T	CCDS42128.1																																																																																				0.502	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		9	92	1	0	1.76689e-08	0.006214	2.40187e-08	9	92				
PDILT	204474	broad.mit.edu	37	16	20373850	20373850	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:20373850C>T	ENST00000302451.4	-	10	1540	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	431	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)	p.G431D(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ATATTTTCTGCCCAATTCCTC	0.463																																							uc002dhc.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1291-1293)GGC>GAC		protein disulfide isomerase-like, testis							265.0	195.0	219.0					16																	20373850		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20373850C>T		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1292G>A	16.37:g.20373850C>T	ENSP00000305465:p.Gly431Asp						p.G431D	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			10	1515	-			431			Thioredoxin.		Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.1292G>A	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357749	0.41801	.	.	ENSG00000169340	ENST00000302451	T	0.14391	2.51	5.0	5.0	0.66597	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.052195	0.85682	D	0.000000	T	0.41673	0.1169	M	0.82433	2.59	0.43885	D	0.996502	D	0.89917	1.0	D	0.87578	0.998	T	0.40289	-0.9571	10	0.87932	D	0	.	15.8425	0.78861	0.0:1.0:0.0:0.0	.	431	Q8N807	PDILT_HUMAN	D	431	ENSP00000305465:G431D	ENSP00000305465:G431D	G	-	2	0	PDILT	20281351	0.997000	0.39634	0.182000	0.23118	0.003000	0.03518	3.967000	0.56802	2.601000	0.87937	0.563000	0.77884	GGC		0.463	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		8	51	0	0	0	0.00308	0	8	51				
DNAH3	55567	broad.mit.edu	37	16	20946702	20946702	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:20946702T>C	ENST00000261383.3	-	61	11964	c.11965A>G	c.(11965-11967)Atc>Gtc	p.I3989V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3989					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.I3989V(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAATGGGGATGGTATATTTC	0.463																																							uc010vbe.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(11965-11967)ATC>GTC		dynein, axonemal, heavy chain 3							84.0	88.0	86.0					16																	20946702		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20946702T>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.11965A>G	16.37:g.20946702T>C	ENSP00000261383:p.Ile3989Val					DNAH3_uc010vbd.1_Missense_Mutation_p.I1424V	p.I3989V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	61	11965	-			3989					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.11965A>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.064166	0.76187	.	.	ENSG00000158486	ENST00000261383	T	0.08546	3.08	5.55	5.55	0.83447	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	L	0.45228	1.405	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.01053	-1.1467	10	0.32370	T	0.25	.	15.71	0.77620	0.0:0.0:0.0:1.0	.	3989	Q8TD57	DYH3_HUMAN	V	3989	ENSP00000261383:I3989V	ENSP00000261383:I3989V	I	-	1	0	DNAH3	20854203	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.288000	0.72679	2.105000	0.64084	0.533000	0.62120	ATC		0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	98	0	0	0	0.009096	0	4	98				
C16orf82	162083	broad.mit.edu	37	16	27078357	27078357	+	lincRNA	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:27078357G>T	ENST00000505035.1	+	0	330				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN	chromosome 16 open reading frame 82																		TTTCTCGAGGGAGAAAAAGGG	0.587																																							uc010vcm.1		NA																	0					0						c.(40-42)GGA>GTA		hypothetical protein LOC162083							29.0	33.0	32.0					16																	27078357		1907	4126	6033			162083							g.chr16:27078357G>T	BC031257		16p12.1	2013-01-24			ENSG00000234186	ENSG00000234186			30755	other	unknown						12477932	Standard	NM_001145545		Approved	TNT	uc010vcm.2	Q7Z2V1	OTTHUMG00000161986		16.37:g.27078357G>T							p.G14V	NM_001145545	NP_001139017	Q7Z2V1	TNT_HUMAN			1	139	+			77					B9EGC2|Q8NEF0	Missense_Mutation	SNP	ENST00000505035.1	37	c.41G>T																																																																																					0.587	C16orf82-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366634.1	NM_001145545		5	28	1	0	3.59834e-05	0.001168	4.21623e-05	5	28				
GTF3C1	2975	broad.mit.edu	37	16	27517247	27517247	+	Silent	SNP	G	G	A	rs35776875	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:27517247G>A	ENST00000356183.4	-	10	1758	c.1743C>T	c.(1741-1743)atC>atT	p.I581I	GTF3C1_ENST00000561623.1_Silent_p.I581I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	581					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.I581I(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGACCTCCTCGATCACAGCTA	0.542													G|||	18	0.00359425	0.0	0.0043	5008	,	,		21628	0.0		0.0119	False		,,,				2504	0.0031						uc002dov.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(1741-1743)ATC>ATT		general transcription factor IIIC, polypeptide		G		12,4382	19.1+/-41.9	0,12,2185	124.0	107.0	113.0		1743	-5.9	0.8	16	dbSNP_126	113	86,8514	48.9+/-108.6	1,84,4215	no	coding-synonymous	GTF3C1	NM_001520.3		1,96,6400	AA,AG,GG		1.0,0.2731,0.7542		581/2110	27517247	98,12896	2197	4300	6497	SO:0001819	synonymous_variant	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27517247G>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1743C>T	16.37:g.27517247G>A						GTF3C1_uc002dou.2_Silent_p.I581I	p.I581I	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			10	1783	-			581					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Silent	SNP	ENST00000356183.4	37	c.1743C>T	CCDS32414.1																																																																																				0.542	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		4	82	0	0	0	0.009096	0	4	82				
CDIPT	10423	broad.mit.edu	37	16	29872528	29872528	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:29872528C>T	ENST00000219789.6	-	3	1109	c.231G>A	c.(229-231)atG>atA	p.M77I	CDIPT_ENST00000566113.1_Missense_Mutation_p.M32I|CDIPT_ENST00000561555.1_Missense_Mutation_p.M101I|CDIPT-AS1_ENST00000398859.3_RNA|CDIPT_ENST00000567459.1_5'Flank|CDIPT-AS1_ENST00000565014.1_RNA|CDIPT_ENST00000563415.1_Missense_Mutation_p.M77I|CDIPT_ENST00000570016.1_Missense_Mutation_p.M77I|CDIPT_ENST00000569956.1_Missense_Mutation_p.M77I	NM_006319.3	NP_006310.1	O14735	CDIPT_HUMAN	CDP-diacylglycerol--inositol 3-phosphatidyltransferase	77					CDP-diacylglycerol metabolic process (GO:0046341)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alcohol binding (GO:0043178)|carbohydrate binding (GO:0030246)|CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity (GO:0003881)|diacylglycerol binding (GO:0019992)|manganese ion binding (GO:0030145)	p.M77I(1)		endometrium(1)|lung(3)	4						CCAACAGGCACATGGTGGAGC	0.582																																							uc002dum.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(229-231)ATG>ATA		CDP-diacylglycerol-inositol							101.0	81.0	88.0					16																	29872528		2197	4300	6497	SO:0001583	missense	10423					endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity	g.chr16:29872528C>T	AF014807	CCDS10657.1, CCDS67002.1	16p11.2	2012-11-19	2010-04-29		ENSG00000103502	ENSG00000103502	2.7.8.11		1769	protein-coding gene	gene with protein product	"""phosphatidylinositol synthase"""	605893	"""CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase)"""			9407135	Standard	NM_006319		Approved	PIS1, PIS	uc002dum.3	O14735	OTTHUMG00000177144	ENST00000219789.6:c.231G>A	16.37:g.29872528C>T	ENSP00000219789:p.Met77Ile					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CDIPT_uc002duk.2_Missense_Mutation_p.M101I|CDIPT_uc002dul.2_Missense_Mutation_p.M49I|CDIPT_uc002dun.2_Missense_Mutation_p.M32I|LOC440356_uc010veb.1_5'Flank|LOC440356_uc002duo.2_5'Flank	p.M77I	NM_006319	NP_006310	O14735	CDIPT_HUMAN			3	631	-			77			Helical; (Potential).		B4DUV0|H3BTV1|Q6FGU1|Q6ZN70	Missense_Mutation	SNP	ENST00000219789.6	37	c.231G>A	CCDS10657.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402524	0.62288	.	.	ENSG00000103502	ENST00000219789;ENST00000403894	T	0.38560	1.13	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	L	0.33624	1.015	0.80722	D	1	P;P;P	0.48350	0.78;0.909;0.885	P;P;B	0.55222	0.458;0.771;0.31	T	0.20371	-1.0277	10	0.30854	T	0.27	-23.5718	17.5062	0.87746	0.0:1.0:0.0:0.0	.	32;77;101	B4DUV0;O14735;B3KY94	.;CDIPT_HUMAN;.	I	77;130	ENSP00000219789:M77I	ENSP00000219789:M77I	M	-	3	0	CDIPT	29780029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.558000	0.73942	2.749000	0.94314	0.655000	0.94253	ATG		0.582	CDIPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255147.3	NM_006319		3	30	0	0	0	0.004672	0	3	30				
ITGAD	3681	broad.mit.edu	37	16	31427872	31427872	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:31427872G>T	ENST00000389202.2	+	20	2453	c.2404G>T	c.(2404-2406)Gtg>Ttg	p.V802L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	802					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.V802L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAACGTGATTGTGACTGTGTG	0.612																																							uc002ebv.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2404-2406)GTG>TTG		integrin, alpha D precursor							124.0	110.0	115.0					16																	31427872		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31427872G>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2404G>T	16.37:g.31427872G>T	ENSP00000373854:p.Val802Leu					ITGAD_uc010cap.1_Missense_Mutation_p.V803L	p.V802L	NM_005353	NP_005344	Q13349	ITAD_HUMAN			20	2453	+			802			Extracellular (Potential).		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2404G>T	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	9.937	1.216321	0.22373	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.52526	0.66	4.68	3.7	0.42460	Integrin alpha-2 (1);	.	.	.	.	T	0.39332	0.1074	L	0.51422	1.61	0.34582	D	0.714618	P;P	0.35433	0.501;0.501	B;B	0.34779	0.189;0.189	T	0.46679	-0.9174	9	0.17832	T	0.49	.	11.261	0.49083	0.0:0.3585:0.6415:0.0	.	818;802	Q59H14;Q13349	.;ITAD_HUMAN	L	818;802	ENSP00000373854:V802L	ENSP00000373854:V802L	V	+	1	0	ITGAD	31335373	0.969000	0.33509	0.510000	0.27712	0.093000	0.18481	1.605000	0.36815	0.922000	0.37019	0.650000	0.86243	GTG		0.612	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		17	69	1	0	6.94344e-10	0.006122	9.93007e-10	17	69				
HEATR3	55027	broad.mit.edu	37	16	50118121	50118121	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:50118121G>T	ENST00000299192.7	+	9	1400	c.1209G>T	c.(1207-1209)gaG>gaT	p.E403D	HEATR3_ENST00000564942.1_3'UTR|HEATR3_ENST00000285767.4_Missense_Mutation_p.E317D	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	403								p.E403D(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CCTTCAGTGAGTGCGGGGGAC	0.498																																							uc002efw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1207-1209)GAG>GAT		HEAT repeat containing 3							135.0	130.0	131.0					16																	50118121		2198	4300	6498	SO:0001583	missense	55027						binding	g.chr16:50118121G>T	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.1209G>T	16.37:g.50118121G>T	ENSP00000299192:p.Glu403Asp					HEATR3_uc002efx.2_Missense_Mutation_p.E317D	p.E403D	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN			9	1371	+			403					A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	c.1209G>T	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	G	6.793	0.515242	0.12944	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.33654	1.4;1.4	6.04	-7.41	0.01392	Armadillo-type fold (1);	0.323209	0.36893	N	0.002346	T	0.16811	0.0404	L	0.42245	1.32	0.19775	N	0.999958	B;B	0.21381	0.055;0.003	B;B	0.21917	0.037;0.007	T	0.16453	-1.0402	10	0.23302	T	0.38	.	0.2587	0.00215	0.282:0.2265:0.2509:0.2406	.	317;403	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	D	317;403	ENSP00000285767:E317D;ENSP00000299192:E403D	ENSP00000285767:E317D	E	+	3	2	HEATR3	48675622	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	-1.157000	0.03157	-1.180000	0.02734	-0.244000	0.11960	GAG		0.498	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	NM_182922		17	50	1	0	1.37285e-15	0.004007	2.23597e-15	17	50				
CYLD	1540	broad.mit.edu	37	16	50813643	50813643	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:50813643C>G	ENST00000427738.3	+	8	1411	c.1206C>G	c.(1204-1206)ctC>ctG	p.L402L	CYLD_ENST00000398568.2_Silent_p.L399L|CYLD_ENST00000540145.1_Silent_p.L402L|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000569418.1_Silent_p.L399L|CYLD_ENST00000311559.9_Silent_p.L402L|CYLD_ENST00000566206.1_Silent_p.L399L|CYLD_ENST00000564326.1_Silent_p.L399L			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	402	Interaction with TRAF2.|Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.L402L(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CACCACCACTCCAGCCTCCTC	0.423			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														uc002egp.1		NA	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		1	Substitution - coding silent(1)		lung(1)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(1204-1206)CTC>CTG		ubiquitin carboxyl-terminal hydrolase CYLD							207.0	197.0	200.0					16																	50813643		1901	4133	6034	SO:0001819	synonymous_variant	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50813643C>G	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1206C>G	16.37:g.50813643C>G						CYLD_uc002ego.2_Silent_p.L399L|CYLD_uc010cbs.1_Silent_p.L399L|CYLD_uc002egq.1_Silent_p.L399L|CYLD_uc002egr.1_Silent_p.L399L|CYLD_uc002egs.1_Silent_p.L399L	p.L402L	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			9	1621	+		all_cancers(37;0.0156)	402			Interaction with TRAF2.|Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Silent	SNP	ENST00000427738.3	37	c.1206C>G	CCDS45482.1																																																																																				0.423	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			17	210	0	0	0	0.007413	0	17	210				
RPGRIP1L	23322	broad.mit.edu	37	16	53691404	53691404	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:53691404G>T	ENST00000379925.3	-	13	1592	c.1542C>A	c.(1540-1542)aaC>aaA	p.N514K	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.N514K|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.N514K|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.N514K	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	514					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.N514K(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TAATTAGCATGTTTCTTGTCT	0.318																																							uc002ehp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1540-1542)AAC>AAA		RPGRIP1-like isoform a							89.0	81.0	84.0					16																	53691404		2196	4300	6496	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53691404G>T		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.1542C>A	16.37:g.53691404G>T	ENSP00000369257:p.Asn514Lys					RPGRIP1L_uc002eho.3_Missense_Mutation_p.N514K|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.N514K|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.N514K|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.N514K	p.N514K	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			13	1606	-		all_cancers(37;0.0973)	514			Potential.		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.1542C>A	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.847370	0.51164	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;T	0.75589	-0.03;-0.95	6.04	2.17	0.27698	.	0.096925	0.64402	D	0.000001	T	0.69566	0.3125	L	0.34521	1.04	0.80722	D	1	B;B;P;D	0.61697	0.41;0.41;0.616;0.99	B;B;B;P	0.59643	0.104;0.126;0.226;0.861	T	0.63510	-0.6621	10	0.17832	T	0.49	-20.6955	5.7572	0.18180	0.5482:0.0:0.4518:0.0	.	514;514;514;514	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	K	514	ENSP00000369257:N514K;ENSP00000262135:N514K	ENSP00000262135:N514K	N	-	3	2	RPGRIP1L	52248905	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.626000	0.37039	0.637000	0.30526	-0.244000	0.11960	AAC		0.318	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272		3	50	1	0	0.004672	0.004672	0.00497711	3	50				
CES1P1	51716	broad.mit.edu	37	16	55803950	55803950	+	RNA	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:55803950A>G	ENST00000571348.1	+	0	525					NR_003276.2		Q9UKY3	CES1P_HUMAN	carboxylesterase 1 pseudogene 1						anatomical structure morphogenesis (GO:0009653)|metabolic process (GO:0008152)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)										CTTGCTGCCCATGAAAACGTG	0.567																																							uc002eik.2		NA																	0					0						c.(73-75)CAT>CGT		RecName: Full=Inactive carboxylesterase 4; AltName: Full=Placental carboxylesterase 3;          Short=PCE-3; Flags: Precursor;																																						51716							g.chr16:55803950A>G	AF106005		16q12.2	2013-07-10	2010-10-12	2010-10-12	ENSG00000228695	ENSG00000228695			18546	pseudogene	pseudogene			"""carboxylesterase 4-like"", ""carboxylesterase 4, pseudogene"""	CES4		10452915, 20931200	Standard	NR_003276		Approved	PCE-3, CESR, CES1A3	uc010cce.3	Q9UKY3	OTTHUMG00000154668		16.37:g.55803950A>G						CES4_uc010cce.2_Missense_Mutation_p.H25R	p.H25R	NR_003276						4	525	+								A2RRL8|B9ZVS2	Missense_Mutation	SNP	ENST00000571348.1	37	c.74A>G																																																																																					0.567	CES1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000440035.1	NR_003276		7	10	0	0	0	0.001984	0	7	10				
MT2A	4502	broad.mit.edu	37	16	56642595	56642595	+	Splice_Site	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:56642595G>T	ENST00000245185.5	+	1	485	c.28G>T	c.(28-30)Ggt>Tgt	p.G10C	RP11-249C24.10_ENST00000569778.1_lincRNA|MT2A_ENST00000561491.1_Splice_Site_p.G10C|MT2A_ENST00000563985.1_3'UTR	NM_005953.3	NP_005944.1	P02795	MT2_HUMAN	metallothionein 2A	10	Beta.				cellular copper ion homeostasis (GO:0006878)|cellular response to drug (GO:0035690)|cellular response to erythropoietin (GO:0036018)|cellular response to interleukin-3 (GO:0036016)|cellular response to zinc ion (GO:0071294)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	drug binding (GO:0008144)|zinc ion binding (GO:0008270)	p.G10C(1)		breast(1)|endometrium(1)|lung(1)	3					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTGCGCCGCCGGTAAGAGGCT	0.587																																							uc002ejh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(28-30)GGT>TGT		metallothionein 2A							48.0	54.0	52.0					16																	56642595		2198	4300	6498	SO:0001630	splice_region_variant	4502				cellular copper ion homeostasis|interferon-gamma-mediated signaling pathway		metal ion binding|protein binding	g.chr16:56642595G>T	BC007034	CCDS10763.1	16q13	2012-10-02			ENSG00000125148	ENSG00000125148		"""Metallothioneins"""	7406	protein-coding gene	gene with protein product		156360		MT2		7133118	Standard	NM_005953		Approved		uc002ejh.3	P02795	OTTHUMG00000133281	ENST00000245185.5:c.28+1G>T	16.37:g.56642595G>T						MT1A_uc002eji.2_RNA	p.G10C	NM_005953	NP_005944	P02795	MT2_HUMAN			1	118	+			10			Beta.		Q14823|Q2HXR9|Q53XT9	Missense_Mutation	SNP	ENST00000245185.5	37	c.28G>T	CCDS10763.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.882517	0.33255	.	.	ENSG00000125148	ENST00000245185	T	0.12147	2.71	4.26	4.26	0.50523	Metallothionein domain, vertebrate (1);Metallothionein domain (1);	0.315391	0.25222	U	0.032226	T	0.34424	0.0897	.	.	.	0.42012	D	0.990949	D	0.71674	0.998	D	0.67548	0.952	T	0.11792	-1.0573	9	0.87932	D	0	.	12.347	0.55126	0.0:0.0:1.0:0.0	.	10	P02795	MT2_HUMAN	C	10	ENSP00000245185:G10C	ENSP00000245185:G10C	G	+	1	0	MT2A	55200096	0.998000	0.40836	0.676000	0.29932	0.027000	0.11550	4.269000	0.58890	2.369000	0.80426	0.462000	0.41574	GGT		0.587	MT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257061.1	NM_005953	Missense_Mutation	10	56	1	0	4.3838e-07	0.001855	5.6924e-07	10	56				
CDH8	1006	broad.mit.edu	37	16	61854915	61854915	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:61854915T>A	ENST00000577390.1	-	6	1892	c.938A>T	c.(937-939)tAt>tTt	p.Y313F	CDH8_ENST00000299345.6_Missense_Mutation_p.Y313F|CDH8_ENST00000584337.1_Missense_Mutation_p.Y313F|CDH8_ENST00000577730.1_Missense_Mutation_p.Y313F	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	313	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)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.Y313F(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GATGATATCATATGATGACTG	0.438																																							uc002eog.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.(937-939)TAT>TTT		cadherin 8, type 2 preproprotein							175.0	134.0	148.0					16																	61854915		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61854915T>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.938A>T	16.37:g.61854915T>A	ENSP00000462701:p.Tyr313Phe					CDH8_uc002eoh.2_Missense_Mutation_p.Y82F	p.Y313F	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	6	1190	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	313			Extracellular (Potential).|Cadherin 3.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.938A>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	T	16.94	3.259848	0.59321	.	.	ENSG00000150394	ENST00000299345	T	0.61980	0.06	6.16	6.16	0.99307	Cadherin (4);Cadherin-like (1);	0.051959	0.85682	D	0.000000	T	0.65186	0.2667	L	0.50333	1.59	0.50313	D	0.999866	B;B	0.25048	0.117;0.017	B;B	0.40329	0.326;0.115	T	0.66204	-0.5982	10	0.87932	D	0	.	11.8297	0.52288	0.1306:0.0:0.0:0.8694	.	129;313	Q3LID3;P55286	.;CADH8_HUMAN	F	313	ENSP00000299345:Y313F	ENSP00000299345:Y313F	Y	-	2	0	CDH8	60412416	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	5.783000	0.68982	2.367000	0.80283	0.528000	0.53228	TAT		0.438	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		5	38	0	0	0	0.001168	0	5	38				
DUS2	54920	broad.mit.edu	37	16	68109352	68109352	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:68109352G>A	ENST00000565263.1	+	14	1521	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R	DUS2_ENST00000358896.6_Missense_Mutation_p.G343R|DUS2_ENST00000432752.1_Missense_Mutation_p.G308R|RP11-67A1.2_ENST00000548144.1_RNA	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	343					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)	p.G343R(1)									AGAGCAGACAGGGGAGCCAGC	0.582																																							uc002evi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1027-1029)GGG>AGG		dihydrouridine synthase 2-like, SMM1 homolog							71.0	64.0	66.0					16																	68109352		2198	4300	6498	SO:0001583	missense	54920				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr16:68109352G>A		CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.1027G>A	16.37:g.68109352G>A	ENSP00000455229:p.Gly343Arg					DUS2L_uc002evj.2_Missense_Mutation_p.G343R|DUS2L_uc010vkk.1_Missense_Mutation_p.G308R|DUS2L_uc010cez.2_Missense_Mutation_p.G256R	p.G343R	NM_017803	NP_060273	Q9NX74	DUS2L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	14	1176	+		Ovarian(137;0.192)	343					A8K3G3|Q4H4D9	Missense_Mutation	SNP	ENST00000565263.1	37	c.1027G>A	CCDS10859.1	.	.	.	.	.	.	.	.	.	.	G	0.762	-0.769001	0.02974	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	T;T	0.30182	1.55;1.54	5.96	2.81	0.32909	.	1.338570	0.04748	N	0.423955	T	0.16171	0.0389	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.002	T	0.27839	-1.0062	10	0.17369	T	0.5	-15.5085	5.5914	0.17303	0.2328:0.2629:0.5042:0.0	.	308;343	E7EUN9;Q9NX74	.;DUS2L_HUMAN	R	343;308	ENSP00000351769:G343R;ENSP00000409498:G308R	ENSP00000351769:G343R	G	+	1	0	DUS2L	66666853	0.006000	0.16342	0.000000	0.03702	0.042000	0.13812	1.333000	0.33816	0.336000	0.23639	0.650000	0.86243	GGG		0.582	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		3	20	0	0	0	0.009096	0	3	20				
VAC14	55697	broad.mit.edu	37	16	70796856	70796856	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:70796856C>A	ENST00000261776.5	-	11	1493	c.1233G>T	c.(1231-1233)acG>acT	p.T411T	VAC14-AS1_ENST00000398177.1_RNA|VAC14-AS1_ENST00000562507.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	411					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)	p.T411T(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TCCCAATGGCCGTGTCACTGA	0.582																																							uc002ezm.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1231-1233)ACG>ACT		Vac14 homolog							122.0	93.0	102.0					16																	70796856		2198	4300	6498	SO:0001819	synonymous_variant	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70796856C>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.1233G>T	16.37:g.70796856C>A						VAC14_uc010cfw.2_Silent_p.T177T|VAC14_uc002ezn.2_Intron|uc002ezp.1_Intron	p.T411T	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN			11	1491	-		Ovarian(137;0.0699)	411					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	ENST00000261776.5	37	c.1233G>T	CCDS10896.1																																																																																				0.582	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	NM_018052		8	43	1	0	0.000274275	0.004482	0.000304945	8	43				
FOXC2	2303	broad.mit.edu	37	16	86601202	86601202	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:86601202C>A	ENST00000320354.4	+	1	346	c.261C>A	c.(259-261)aaC>aaA	p.N87K	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	87					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.N87K(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CCATCCAGAACGCGCCCGAGA	0.612									Late-onset Hereditary Lymphedema																														uc002fjq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(259-261)AAC>AAA		forkhead box C2							100.0	103.0	102.0					16																	86601202		2198	4300	6498	SO:0001583	missense	2303	Late-onset_Hereditary_Lymphedema	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr16:86601202C>A	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.261C>A	16.37:g.86601202C>A	ENSP00000326371:p.Asn87Lys						p.N87K	NM_005251	NP_005242	Q99958	FOXC2_HUMAN			1	346	+			87			Fork-head.		C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	c.261C>A	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636601	0.67130	.	.	ENSG00000176692	ENST00000320354	D	0.95690	-3.78	4.67	4.67	0.58626	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.64402	U	0.000011	D	0.94896	0.8350	L	0.39467	1.215	0.58432	D	0.999992	P	0.41848	0.763	P	0.49829	0.623	D	0.95556	0.8625	10	0.66056	D	0.02	.	16.2107	0.82151	0.0:1.0:0.0:0.0	.	87	Q99958	FOXC2_HUMAN	K	87	ENSP00000326371:N87K	ENSP00000326371:N87K	N	+	3	2	FOXC2	85158703	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.954000	0.40362	2.145000	0.66743	0.650000	0.86243	AAC		0.612	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251		6	98	1	0	3.59834e-05	0.001168	4.21623e-05	6	98				
DPEP1	1800	broad.mit.edu	37	16	89696899	89696899	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:89696899G>A	ENST00000393092.3	+	2	372	c.81G>A	c.(79-81)atG>atA	p.M27I	DPEP1_ENST00000261615.4_Missense_Mutation_p.M27I|DPEP1_ENST00000421184.1_Missense_Mutation_p.M27I	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	27					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)	p.M27I(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	AGAGGATCATGAGGGACTCCC	0.647																																							uc010cin.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(79-81)ATG>ATA		dipeptidase 1 precursor	Cilastatin(DB01597)						86.0	79.0	81.0					16																	89696899		2198	4300	6498	SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89696899G>A		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.81G>A	16.37:g.89696899G>A	ENSP00000376807:p.Met27Ile					DPEP1_uc002fnr.3_Missense_Mutation_p.M27I|DPEP1_uc002fns.3_Missense_Mutation_p.M27I	p.M27I	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	2	284	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	27					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.81G>A	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824259	0.50739	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.22539	1.95;1.95;1.95	3.82	3.82	0.43975	.	0.085006	0.85682	D	0.000000	T	0.43500	0.1250	M	0.88241	2.94	0.44611	D	0.997584	P	0.44478	0.836	P	0.51657	0.676	T	0.54132	-0.8339	10	0.72032	D	0.01	-8.2576	13.6644	0.62387	0.0:0.0:1.0:0.0	.	27	P16444	DPEP1_HUMAN	I	27	ENSP00000397313:M27I;ENSP00000376807:M27I;ENSP00000261615:M27I	ENSP00000261615:M27I	M	+	3	0	DPEP1	88224400	1.000000	0.71417	0.885000	0.34714	0.270000	0.26580	6.046000	0.71029	2.423000	0.82170	0.655000	0.94253	ATG		0.647	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		4	54	0	0	0	0.000602	0	4	54				
TCF25	22980	broad.mit.edu	37	16	89958629	89958629	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:89958629A>T	ENST00000263346.8	+	6	699	c.643A>T	c.(643-645)Aag>Tag	p.K215*	TCF25_ENST00000263347.7_De_novo_Start_InFrame	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	215					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K215*(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TGTGTACCCCAAGTGCACATG	0.612																																							uc002fpb.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(643-645)AAG>TAG		NULP1							87.0	55.0	66.0					16																	89958629		2197	4298	6495	SO:0001587	stop_gained	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89958629A>T	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.643A>T	16.37:g.89958629A>T	ENSP00000263346:p.Lys215*					TCF25_uc002fpc.2_5'UTR	p.K215*	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	6	725	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	215					Q2MK75|Q9UPV3	Nonsense_Mutation	SNP	ENST00000263346.8	37	c.643A>T	CCDS10987.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.034300	0.93575	.	.	ENSG00000141002	ENST00000263346	.	.	.	5.51	4.42	0.53409	.	0.105659	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1298	0.42672	0.6271:0.3729:0.0:0.0	.	.	.	.	X	215	.	ENSP00000263346:K215X	K	+	1	0	TCF25	88486130	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.939000	0.56591	2.105000	0.64084	0.454000	0.30748	AAG		0.612	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		4	16	0	0	0	0.000602	0	4	16				
TUBB3	10381	broad.mit.edu	37	16	90001147	90001147	+	Silent	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:90001147G>C	ENST00000315491.7	+	4	411	c.288G>C	c.(286-288)ggG>ggC	p.G96G	TUBB3_ENST00000556922.1_Silent_p.G443G|TUBB3_ENST00000554444.1_Silent_p.G24G|TUBB3_ENST00000304984.5_Silent_p.G24G|TUBB3_ENST00000555576.1_Intron	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	96					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.G96G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	GTCAGAGTGGGGCCGGCAACA	0.632																																							uc002fph.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(286-288)GGG>GGC		tubulin, beta, 4							43.0	42.0	42.0					16																	90001147		2198	4299	6497	SO:0001819	synonymous_variant	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90001147G>C	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.288G>C	16.37:g.90001147G>C						TUBB3_uc002fpf.2_Silent_p.G443G|TUBB3_uc010ciz.1_Silent_p.G24G|TUBB3_uc002fpg.1_5'UTR|TUBB3_uc002fpi.1_Silent_p.G24G|TUBB3_uc002fpj.1_Silent_p.G24G|TUBB3_uc010cjb.1_5'UTR|TUBB3_uc002fpk.1_5'UTR	p.G96G	NM_006086	NP_006077	Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	4	353	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	96					A8K854|Q9BTZ0|Q9BW10	Silent	SNP	ENST00000315491.7	37	c.288G>C	CCDS10988.1																																																																																				0.632	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		13	31	0	0	0	0.001855	0	13	31				
SPNS3	201305	broad.mit.edu	37	17	4349344	4349344	+	Splice_Site	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:4349344A>T	ENST00000355530.2	+	4	684	c.404A>T	c.(403-405)tAt>tTt	p.Y135F	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Splice_Site_p.Y8F	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	135					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.Y135F(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTCGCCCAGTATTCTTGGCTC	0.632																																							uc002fxt.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(403-405)TAT>TTT		spinster homolog 3							84.0	78.0	80.0					17																	4349344		2203	4300	6503	SO:0001630	splice_region_variant	201305				lipid transport|transmembrane transport	integral to membrane		g.chr17:4349344A>T		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.403-1A>T	17.37:g.4349344A>T						SPNS3_uc002fxu.2_Missense_Mutation_p.Y8F	p.Y135F	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN			4	448	+			135					Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	c.404A>T	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	A	8.614	0.889861	0.17540	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.58506	0.33;1.9	4.71	2.48	0.30137	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.218004	0.40640	N	0.001057	T	0.47911	0.1471	L	0.46614	1.455	0.35570	D	0.805415	B;B	0.30824	0.296;0.03	B;B	0.39152	0.292;0.063	T	0.47420	-0.9119	10	0.23302	T	0.38	-3.4813	4.8085	0.13331	0.7371:0.0:0.0937:0.1692	.	8;135	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	F	135;8	ENSP00000347721:Y135F;ENSP00000333207:Y8F	ENSP00000333207:Y8F	Y	+	2	0	SPNS3	4296093	0.329000	0.24696	0.798000	0.32154	0.436000	0.31835	3.407000	0.52644	0.871000	0.35750	-0.490000	0.04691	TAT		0.632	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538	Missense_Mutation	11	34	0	0	0	0.003163	0	11	34				
USP6	9098	broad.mit.edu	37	17	5051907	5051907	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:5051907C>A	ENST00000574788.1	+	30	4718	c.2488C>A	c.(2488-2490)Cta>Ata	p.L830I	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.L513I|USP6_ENST00000250066.6_Missense_Mutation_p.L830I			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	830	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.L830I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAATGGGGACCTACCCAAACC	0.408			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																		uc002gau.1		NA		Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(2488-2490)CTA>ATA		ubiquitin specific protease 6							202.0	168.0	179.0					17																	5051907		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5051907C>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2488C>A	17.37:g.5051907C>A	ENSP00000460380:p.Leu830Ile					USP6_uc002gav.1_Missense_Mutation_p.L830I|USP6_uc010ckz.1_Missense_Mutation_p.L513I	p.L830I	NM_004505	NP_004496	P35125	UBP6_HUMAN			30	4718	+			830					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.2488C>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	3.810	-0.039878	0.07497	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.13901	2.95;2.55	2.79	-1.11	0.09840	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.430961	0.24590	N	0.037225	T	0.06325	0.0163	N	0.21142	0.635	0.31587	N	0.654328	B;B	0.22080	0.01;0.064	B;B	0.18263	0.006;0.021	T	0.25047	-1.0143	10	0.24483	T	0.36	.	3.4317	0.07430	0.1933:0.537:0.0:0.2697	.	513;830	P35125-2;P35125	.;UBP6_HUMAN	I	830;513	ENSP00000250066:L830I;ENSP00000305473:L513I	ENSP00000250066:L830I	L	+	1	2	USP6	4992631	0.001000	0.12720	0.985000	0.45067	0.209000	0.24338	-0.102000	0.10956	-0.324000	0.08589	0.194000	0.17425	CTA		0.408	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		50	92	1	0	8.00217e-19	0.00361	1.35401e-18	50	92				
CLEC10A	10462	broad.mit.edu	37	17	6978507	6978507	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:6978507C>G	ENST00000254868.4	-	9	1145	c.817G>C	c.(817-819)Ggg>Cgg	p.G273R	CLEC10A_ENST00000576617.1_3'UTR|CLEC10A_ENST00000571664.1_Missense_Mutation_p.G249R|CLEC10A_ENST00000416562.2_Missense_Mutation_p.G246R	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	273	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.G273R(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						AGCCCGTGCCCCTGCCAGTCG	0.602																																							uc002gek.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(817-819)GGG>CGG		C-type lectin, superfamily member 14 isoform 1							37.0	37.0	37.0					17																	6978507		2203	4300	6503	SO:0001583	missense	10462				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding	g.chr17:6978507C>G	D50532	CCDS11087.1, CCDS45597.1	17p13.2	2014-05-20	2005-02-09	2005-02-11		ENSG00000132514		"""C-type lectin domain containing"", ""CD molecules"""	16916	protein-coding gene	gene with protein product	"""macrophage lectin 2 (calcium dependent)"""	605999	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 14 (macrophage-derived)"""	CLECSF13, CLECSF14		8598452	Standard	XM_005256411		Approved	HML2, HML, CD301	uc002gej.3	Q8IUN9		ENST00000254868.4:c.817G>C	17.37:g.6978507C>G	ENSP00000254868:p.Gly273Arg					CLEC10A_uc002gej.2_Missense_Mutation_p.G249R|CLEC10A_uc002gel.2_Missense_Mutation_p.G246R|CLEC10A_uc010clv.1_3'UTR	p.G273R	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN			9	1120	-			273			C-type lectin.|Extracellular (Potential).		A8K8J8|Q14538|Q6PIW3	Missense_Mutation	SNP	ENST00000254868.4	37	c.817G>C	CCDS11087.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297733	0.95574	.	.	ENSG00000132514	ENST00000254868;ENST00000416562	T	0.03242	4.0	4.82	4.82	0.62117	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.132949	0.35615	N	0.003097	T	0.21022	0.0506	M	0.84948	2.725	0.27573	N	0.949818	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.01360	-1.1375	10	0.87932	D	0	.	15.7881	0.78326	0.0:1.0:0.0:0.0	.	273;249	Q8IUN9;Q8IUN9-2	CLC10_HUMAN;.	R	273;249	ENSP00000254868:G273R	ENSP00000254868:G273R	G	-	1	0	CLEC10A	6919231	0.003000	0.15002	0.098000	0.21074	0.878000	0.50629	1.745000	0.38278	2.664000	0.90586	0.650000	0.86243	GGG		0.602	CLEC10A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000439837.2	NM_006344		12	28	0	0	0	0.001368	0	12	28				
CHRNB1	1140	broad.mit.edu	37	17	7358658	7358658	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:7358658G>C	ENST00000306071.2	+	9	1167	c.1100G>C	c.(1099-1101)aGa>aCa	p.R367T	CHRNB1_ENST00000575379.1_5'Flank|CHRNB1_ENST00000536404.2_Missense_Mutation_p.R295T|CHRNB1_ENST00000576360.1_Missense_Mutation_p.R246T	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	367					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)	p.R367T(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	AAACCCGAGAGAGACCTGATG	0.522																																							uc002ghb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1099-1101)AGA>ACA		nicotinic acetylcholine receptor beta 1 subunit							105.0	109.0	108.0					17																	7358658		2203	4300	6503	SO:0001583	missense	1140				behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity	g.chr17:7358658G>C	X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.1100G>C	17.37:g.7358658G>C	ENSP00000304290:p.Arg367Thr					CHRNB1_uc010vty.1_Missense_Mutation_p.R295T|CHRNB1_uc010vtz.1_Missense_Mutation_p.R201T	p.R367T	NM_000747	NP_000738	P11230	ACHB_HUMAN			9	1141	+		Prostate(122;0.157)	367			Cytoplasmic (Potential).		B7Z5H1|Q8IZ46|Q96FB8	Missense_Mutation	SNP	ENST00000306071.2	37	c.1100G>C	CCDS11106.1	.	.	.	.	.	.	.	.	.	.	G	4.140	0.024378	0.08054	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	D;D	0.85339	-1.97;-1.97	5.73	3.63	0.41609	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.553881	0.20700	N	0.087282	T	0.73845	0.3639	L	0.33668	1.02	0.80722	D	1	B	0.22746	0.074	B	0.24541	0.054	T	0.63695	-0.6579	10	0.13470	T	0.59	.	7.408	0.27001	0.0883:0.1676:0.7441:0.0	.	367	P11230	ACHB_HUMAN	T	367;295	ENSP00000304290:R367T;ENSP00000439209:R295T	ENSP00000304290:R367T	R	+	2	0	CHRNB1	7299382	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	0.664000	0.25068	1.422000	0.47177	-0.150000	0.13652	AGA		0.522	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226942.3			4	153	0	0	0	0.009096	0	4	153				
TP53	7157	broad.mit.edu	37	17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:7578268A>C	ENST00000269305.4	-	6	770	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000420246.2_Missense_Mutation_p.L194R|TP53_ENST00000359597.4_Missense_Mutation_p.L194R|TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.L194R|TP53_ENST00000455263.2_Missense_Mutation_p.L194R	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	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(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)	CACTCGGATAAGATGCTGAGG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		108	Substitution - Missense(75)|Whole gene deletion(8)|Deletion - Frameshift(6)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Insertion - Frameshift(1)|Complex - frameshift(1)	p.L194R(31)|p.L194F(16)|p.L194P(8)|p.0?(7)|p.L194H(5)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191fs*53(2)|p.L194fs*15(2)|p.K164_P219del(1)|p.A189fs*53(1)|p.L194V(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.I195fs*52(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.L194I(1)|p.L194fs*52(1)	breast(19)|lung(14)|ovary(14)|large_intestine(11)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(6)|oesophagus(6)|biliary_tract(5)|skin(5)|bone(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(2)|pancreas(2)|liver(2)|soft_tissue(1)|prostate(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.(580-582)CTT>CGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							97.0	87.0	90.0					17																	7578268		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.chr17:7578268A>C	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.581T>G	17.37:g.7578268A>C	ENSP00000269305:p.Leu194Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.L194R|TP53_uc002gih.2_Missense_Mutation_p.L194R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.L62R|TP53_uc010cng.1_Missense_Mutation_p.L62R|TP53_uc002gii.1_Missense_Mutation_p.L62R|TP53_uc010cnh.1_Missense_Mutation_p.L194R|TP53_uc010cni.1_Missense_Mutation_p.L194R|TP53_uc002gij.2_Missense_Mutation_p.L194R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.L101R|TP53_uc002gio.2_Missense_Mutation_p.L62R|TP53_uc010vug.1_Missense_Mutation_p.L155R	p.L194R	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	775	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	194		L -> H (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.581T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.029856	0.54790	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.90425	3.115	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.984;1.0;1.0;1.0;1.0	D	0.96375	0.9277	10	0.87932	D	0	-29.6709	13.709	0.62656	1.0:0.0:0.0:0.0	.	155;194;194;101;194;194;194	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	194;194;194;194;194;194;183;101;62;101;62	ENSP00000410739:L194R;ENSP00000352610:L194R;ENSP00000269305:L194R;ENSP00000398846:L194R;ENSP00000391127:L194R;ENSP00000391478:L194R;ENSP00000425104:L62R;ENSP00000423862:L101R	ENSP00000269305:L194R	L	-	2	0	TP53	7518993	1.000000	0.71417	0.300000	0.25030	0.031000	0.12232	9.287000	0.95975	2.183000	0.69458	0.533000	0.62120	CTT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	33	0	0	0	0.004656	0	24	33				
ARHGEF15	22899	broad.mit.edu	37	17	8222414	8222414	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:8222414G>T	ENST00000361926.3	+	13	2233	c.2123G>T	c.(2122-2124)cGc>cTc	p.R708L	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000582060.1_3'UTR|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R708L	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	708					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R708L(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCTACCTTCCGCCTCTCCCTT	0.607																																							uc002glc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2122-2124)CGC>CTC		Rho guanine exchange factor 15							81.0	88.0	86.0					17																	8222414		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8222414G>T	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2123G>T	17.37:g.8222414G>T	ENSP00000355026:p.Arg708Leu					ARHGEF15_uc002gld.2_Missense_Mutation_p.R708L|ARHGEF15_uc010vuw.1_Missense_Mutation_p.R597L	p.R708L	NM_173728	NP_776089	O94989	ARHGF_HUMAN			13	2244	+			708					A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.2123G>T	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	g	11.36	1.616594	0.28801	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	D;D	0.87491	-2.26;-2.26	5.04	5.04	0.67666	Pleckstrin homology-type (1);	0.380726	0.28382	N	0.015557	T	0.76997	0.4066	N	0.12961	0.28	0.32678	N	0.515833	P;P	0.48503	0.911;0.911	P;P	0.45660	0.489;0.489	T	0.76052	-0.3100	10	0.11485	T	0.65	-16.9019	10.8789	0.46927	0.0:0.0:0.8124:0.1876	.	708;708	D3DTR7;O94989	.;ARHGF_HUMAN	L	708;498;708	ENSP00000355026:R708L;ENSP00000412505:R708L	ENSP00000355026:R708L	R	+	2	0	ARHGEF15	8163139	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.465000	0.35299	2.623000	0.88846	0.561000	0.74099	CGC		0.607	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		35	63	1	0	1.36161e-19	0.004289	2.33037e-19	35	63				
PIK3R6	146850	broad.mit.edu	37	17	8731893	8731893	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:8731893T>C	ENST00000311434.9	-	11	1543	c.1304A>G	c.(1303-1305)cAc>cGc	p.H435R	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	435					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of MAP kinase activity (GO:0043406)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.H516R(1)									CCTGAGTCTGTGGTAGGCCTG	0.701																																							uc002glq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1303-1305)CAC>CGC		phosphoinositide-3-kinase, regulatory subunit 6							15.0	18.0	17.0					17																	8731893		1882	4062	5944	SO:0001583	missense	146850				platelet activation	cytosol		g.chr17:8731893T>C	AK091819	CCDS73985.1	17p13.1	2013-01-31	2008-02-04	2008-02-04	ENSG00000174083	ENSG00000276231			27101	protein-coding gene	gene with protein product		611462	"""chromosome 17 open reading frame 38"""	C17orf38		16476736	Standard	NM_001010855		Approved	FLJ34500, HsT41028, p87PIKAP	uc002glq.1	Q5UE93	OTTHUMG00000132861	ENST00000311434.9:c.1304A>G	17.37:g.8731893T>C	ENSP00000475670:p.His435Arg					PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	p.H435R	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN			11	1544	-			435					Q658R3	Missense_Mutation	SNP	ENST00000311434.9	37	c.1304A>G																																																																																					0.701	PIK3R6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001010855		5	19	0	0	0	0.001168	0	5	19				
WDR16	146845	broad.mit.edu	37	17	9501631	9501631	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:9501631G>C	ENST00000352665.5	+	5	686	c.617G>C	c.(616-618)aGa>aCa	p.R206T	WDR16_ENST00000299764.5_Missense_Mutation_p.R216T|WDR16_ENST00000396219.3_Missense_Mutation_p.R138T	NM_145054.4	NP_659491.4			WD repeat domain 16									p.R206T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CAGTTGAAAAGAATAGTCATG	0.358																																							uc002gly.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(616-618)AGA>ACA		WD40-repeat protein upregulated in HCC isoform							81.0	87.0	85.0					17																	9501631		2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9501631G>C	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.617G>C	17.37:g.9501631G>C	ENSP00000339449:p.Arg206Thr					WDR16_uc002glz.2_Missense_Mutation_p.R138T|WDR16_uc010coc.2_Missense_Mutation_p.R216T	p.R206T	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN			5	686	+			206						Missense_Mutation	SNP	ENST00000352665.5	37	c.617G>C	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775315	0.49786	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.35048	2.57;1.33;5.03	5.25	5.25	0.73442	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	M	0.86028	2.79	0.58432	D	0.999995	D;D;D	0.71674	0.997;0.998;0.998	P;P;P	0.61874	0.895;0.895;0.85	T	0.67589	-0.5632	10	0.51188	T	0.08	-26.3123	17.6193	0.88076	0.0:0.0:1.0:0.0	.	216;138;206	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	T	206;138;216	ENSP00000339449:R206T;ENSP00000379521:R138T;ENSP00000299764:R216T	ENSP00000299764:R216T	R	+	2	0	WDR16	9442356	1.000000	0.71417	1.000000	0.80357	0.135000	0.20990	7.135000	0.77276	2.430000	0.82344	0.561000	0.74099	AGA		0.358	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		7	72	0	0	0	0.00308	0	7	72				
NCOR1	9611	broad.mit.edu	37	17	16004785	16004785	+	Silent	SNP	G	G	A	rs377605315		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:16004785G>A	ENST00000268712.3	-	20	2726	c.2469C>T	c.(2467-2469)gaC>gaT	p.D823D	NCOR1_ENST00000583226.1_5'Flank|NCOR1_ENST00000395848.1_Silent_p.D730D|NCOR1_ENST00000395851.1_Silent_p.D839D|RNU6-314P_ENST00000516574.1_RNA	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	823					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.D823D(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCACTTCAACGTCCACAGAGT	0.493																																							uc002gpo.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(2467-2469)GAC>GAT		nuclear receptor co-repressor 1		G	,,	0,4406		0,0,2203	139.0	128.0	132.0		2190,2517,2469	-3.6	0.0	17		132	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	NCOR1	NM_001190438.1,NM_001190440.1,NM_006311.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	730/915,839/2338,823/2441	16004785	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16004785G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2469C>T	17.37:g.16004785G>A						NCOR1_uc002gpn.2_Silent_p.D839D|NCOR1_uc002gpp.1_Silent_p.D730D|NCOR1_uc002gpr.2_Silent_p.D730D	p.D823D	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	20	2709	-			823					B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.2469C>T	CCDS11175.1																																																																																				0.493	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		7	78	0	0	0	0.001984	0	7	78				
TNFRSF13B	23495	broad.mit.edu	37	17	16855818	16855818	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:16855818G>A	ENST00000261652.2	-	2	153	c.141C>T	c.(139-141)tgC>tgT	p.C47C	TNFRSF13B_ENST00000579315.1_Silent_p.C47C|TNFRSF13B_ENST00000437538.2_Intron|TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000583789.1_Intron	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	47					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.C47C(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TGCAGGACATGCAGGTACCCA	0.597									IgA Deficiency, Selective																														uc002gqs.1		NA																	1	Substitution - coding silent(1)		lung(1)	kidney(2)	2						c.(139-141)TGC>TGT		tumor necrosis factor receptor 13B							98.0	79.0	85.0					17																	16855818		2203	4300	6503	SO:0001819	synonymous_variant	23495	IgA_Deficiency_Selective	Familial Cancer Database	IGAD1, IGAD2	cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr17:16855818G>A	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.141C>T	17.37:g.16855818G>A						TNFRSF13B_uc010vwt.1_Intron|TNFRSF13B_uc002gqt.1_Intron|TNFRSF13B_uc010vwu.1_Silent_p.C47C	p.C47C	NM_012452	NP_036584	O14836	TR13B_HUMAN			2	154	-			47			TNFR-Cys 1.|Extracellular (Potential).		B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Silent	SNP	ENST00000261652.2	37	c.141C>T	CCDS11181.1																																																																																				0.597	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131474.2			7	35	0	0	0	0.001984	0	7	35				
PLD6	201164	broad.mit.edu	37	17	17106395	17106395	+	Missense_Mutation	SNP	C	C	T	rs186327050		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:17106395C>T	ENST00000321560.3	-	2	473	c.445G>A	c.(445-447)Gat>Aat	p.D149N	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_178836.3	NP_849158.2	Q8N2A8	PLD6_HUMAN	phospholipase D family, member 6	149					DNA methylation involved in gamete generation (GO:0043046)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|meiotic nuclear division (GO:0007126)|mitochondrial fusion (GO:0008053)|P granule organization (GO:0030719)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|piRNA metabolic process (GO:0034587)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	cardiolipin hydrolase activity (GO:0035755)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.D149N(1)		endometrium(1)|lung(1)	2						GGGTCTTGATCGTGCCGGACC	0.557																																							uc002gqz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(445-447)GAT>AAT		phospholipase D6							108.0	81.0	90.0					17																	17106395		2203	4300	6503	SO:0001583	missense	201164				DNA methylation involved in gamete generation|lipid catabolic process|meiosis|mitochondrial fusion|P granule organization|piRNA metabolic process|spermatid development	integral to membrane|mitochondrial outer membrane	cardiolipin hydrolase activity|protein homodimerization activity	g.chr17:17106395C>T	AK090899	CCDS11182.1	17p11.2	2008-08-14			ENSG00000179598	ENSG00000179598			30447	protein-coding gene	gene with protein product		614960				12477932	Standard	NM_178836		Approved		uc002gqz.3	Q8N2A8	OTTHUMG00000059278	ENST00000321560.3:c.445G>A	17.37:g.17106395C>T	ENSP00000317177:p.Asp149Asn					PLD6_uc010cpn.2_RNA	p.D149N	NM_178836	NP_849158	Q8N2A8	PLD6_HUMAN			2	477	-			149			Cytoplasmic (Potential).		Q8N5Y1	Missense_Mutation	SNP	ENST00000321560.3	37	c.445G>A	CCDS11182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.13|12.13	1.844292|1.844292	0.32606|0.32606	.|.	.|.	ENSG00000179598|ENSG00000179598	ENST00000321560|ENST00000427497	T|.	0.13901|.	2.55|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.109263|.	0.64402|.	D|.	0.000016|.	T|T	0.58293|0.58293	0.2112|0.2112	L|L	0.31065|0.31065	0.9|0.9	0.48040|0.48040	D|D	0.999574|0.999574	P|.	0.37663|.	0.604|.	B|.	0.34452|.	0.183|.	T|T	0.62110|0.62110	-0.6923|-0.6923	10|6	0.33940|0.87932	T|D	0.23|0	-13.7168|-13.7168	14.5513|14.5513	0.68068|0.68068	0.0:0.9275:0.0:0.0725|0.0:0.9275:0.0:0.0725	.|.	149|.	Q8N2A8|.	PLD6_HUMAN|.	N|Q	149|122	ENSP00000317177:D149N|.	ENSP00000317177:D149N|ENSP00000394249:R122Q	D|R	-|-	1|2	0|0	PLD6|PLD6	17047120|17047120	0.997000|0.997000	0.39634|0.39634	0.933000|0.933000	0.37362|0.37362	0.040000|0.040000	0.13550|0.13550	3.525000|3.525000	0.53502|0.53502	2.573000|2.573000	0.86826|0.86826	0.655000|0.655000	0.94253|0.94253	GAT|CGA		0.557	PLD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131600.2	NM_178836		4	36	0	0	0	0.009096	0	4	36				
KCNJ12	3768	broad.mit.edu	37	17	21318835	21318835	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:21318835G>A	ENST00000583088.1	+	3	1076	c.181G>A	c.(181-183)Gac>Aac	p.D61N	KCNJ12_ENST00000331718.5_Missense_Mutation_p.D61N	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	61					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.D61N(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CGCCAACATGGACGAGAAGTC	0.597										Prostate(3;0.18)																													uc002gyv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(181-183)GAC>AAC		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						204.0	133.0	157.0					17																	21318835		2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21318835G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.181G>A	17.37:g.21318835G>A	ENSP00000463778:p.Asp61Asn	Prostate(3;0.18)					p.D61N	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	886	+			61			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.181G>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632370	0.46944	.	.	ENSG00000184185	ENST00000331718	D	0.93811	-3.29	5.33	5.33	0.75918	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.103470	0.64402	D	0.000004	D	0.90310	0.6969	L	0.39397	1.21	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	D	0.85748	0.1341	10	0.26408	T	0.33	.	19.026	0.92932	0.0:0.0:1.0:0.0	.	61	Q14500	IRK12_HUMAN	N	61	ENSP00000328150:D61N	ENSP00000328150:D61N	D	+	1	0	KCNJ12	21259428	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.891000	0.87319	2.506000	0.84524	0.591000	0.81541	GAC		0.597	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		9	42	0	0	0	0.004482	0	9	42				
SEZ6	124925	broad.mit.edu	37	17	27308745	27308745	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:27308745G>A	ENST00000317338.12	-	2	796	c.368C>T	c.(367-369)aCt>aTt	p.T123I	SEZ6_ENST00000442608.3_Missense_Mutation_p.T123I|SEZ6_ENST00000335960.6_Missense_Mutation_p.T123I|SEZ6_ENST00000360295.9_Missense_Mutation_p.T123I|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	123	Pro-rich.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.T123I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CATGGCTGGAGTGGGGCTGGT	0.647																																							uc002hdp.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(367-369)ACT>ATT		seizure related 6 homolog isoform 1							28.0	35.0	32.0					17																	27308745		2199	4300	6499	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27308745G>A	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.368C>T	17.37:g.27308745G>A	ENSP00000312942:p.Thr123Ile					SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.T123I|SEZ6_uc002hdq.1_5'UTR|SEZ6_uc010crz.1_Missense_Mutation_p.T123I	p.T123I	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		2	562	-	Lung NSC(42;0.0137)		123			Pro-rich.|Extracellular (Potential).		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.368C>T	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.008421	0.54361	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000335960;ENST00000541381	T;T;T	0.32023	1.52;1.47;2.41	4.84	4.84	0.62591	.	0.209081	0.22548	U	0.058631	T	0.44222	0.1283	L	0.32530	0.975	0.32937	D	0.517861	D;D;D	0.89917	0.998;1.0;0.999	P;D;D	0.83275	0.905;0.996;0.941	T	0.56226	-0.8014	10	0.72032	D	0.01	.	13.427	0.61030	0.0:0.0:1.0:0.0	.	123;123;123	F5GZF9;Q53EL9-3;Q53EL9	.;.;SEZ6_HUMAN	I	123	ENSP00000403784:T123I;ENSP00000353440:T123I;ENSP00000337407:T123I	ENSP00000337407:T123I	T	-	2	0	SEZ6	24332871	0.991000	0.36638	0.687000	0.30102	0.504000	0.33889	4.441000	0.59981	2.238000	0.73509	0.462000	0.41574	ACT		0.647	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			14	50	0	0	0	0.004007	0	14	50				
MYO18A	399687	broad.mit.edu	37	17	27493181	27493181	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:27493181C>A	ENST00000527372.1	-	2	958	c.778G>T	c.(778-780)Ggt>Tgt	p.G260C	MYO18A_ENST00000533112.1_Missense_Mutation_p.G260C|MYO18A_ENST00000354329.4_Missense_Mutation_p.G260C|MYO18A_ENST00000531253.1_Missense_Mutation_p.G260C	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	260	Mediates nucleotide-independent binding to F-actin and interaction with GOLPH3.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.G260C(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTGCCTGCACCAGGCTCAGCA	0.627																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	Esophageal Squamous(182;472 2015 7001 15270 22562)	uc002hdt.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(778-780)GGT>TGT		myosin 18A isoform a							74.0	83.0	80.0					17																	27493181		2043	4199	6242	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27493181C>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.778G>T	17.37:g.27493181C>A	ENSP00000437073:p.Gly260Cys					MYO18A_uc010csa.1_Missense_Mutation_p.G260C|MYO18A_uc002hdu.1_Missense_Mutation_p.G260C	p.G260C	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		2	936	-			260			PDZ.		Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.778G>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338894	0.81911	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	5.21	5.21	0.72293	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.71702	0.3371	H	0.97390	3.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82594	-0.0380	10	0.87932	D	0	.	18.9562	0.92659	0.0:1.0:0.0:0.0	.	260;260;260	Q92614-3;Q92614-4;Q92614	.;.;MY18A_HUMAN	C	260	ENSP00000346291:G260C;ENSP00000435932:G260C;ENSP00000434228:G260C;ENSP00000437073:G260C	ENSP00000346291:G260C	G	-	1	0	MYO18A	24517307	1.000000	0.71417	0.659000	0.29680	0.993000	0.82548	5.472000	0.66768	2.716000	0.92895	0.563000	0.77884	GGT		0.627	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		73	153	1	0	3.82405e-32	0.00361	6.82446e-32	73	153				
CORO6	84940	broad.mit.edu	37	17	27945929	27945929	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:27945929T>A	ENST00000445145.2	-	4	513	c.512A>T	c.(511-513)gAt>gTt	p.D171V	CORO6_ENST00000456796.3_5'Flank|CORO6_ENST00000345068.5_Missense_Mutation_p.D171V|CORO6_ENST00000388767.3_Missense_Mutation_p.D171V|RP11-68I3.10_ENST00000582367.1_RNA|CORO6_ENST00000584969.1_Missense_Mutation_p.D171V|CORO6_ENST00000580212.1_Missense_Mutation_p.D171V|CORO6_ENST00000577909.1_Intron|RP11-68I3.2_ENST00000581474.1_RNA			Q6QEF8	CORO6_HUMAN	coronin 6	171					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)	p.D171V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						GTGCATATCATCCAGGCTCAG	0.587																																							uc002hel.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(511-513)GAT>GTT		coronin 6							93.0	96.0	95.0					17																	27945929		2141	4252	6393	SO:0001583	missense	84940				actin cytoskeleton organization	actin cytoskeleton	actin filament binding	g.chr17:27945929T>A	AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.512A>T	17.37:g.27945929T>A	ENSP00000393624:p.Asp171Val					CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank	p.D171V	NM_032854	NP_116243	Q6QEF8	CORO6_HUMAN			4	514	-			171					B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	ENST00000445145.2	37	c.512A>T		.	.	.	.	.	.	.	.	.	.	T	13.43	2.233739	0.39498	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145	T;T	0.01335	5.0;5.0	5.54	5.54	0.83059	.	0.169047	0.49916	D	0.000133	T	0.04497	0.0123	L	0.59436	1.845	0.80722	D	1	B	0.33135	0.399	P	0.44860	0.462	T	0.38090	-0.9677	10	0.72032	D	0.01	-3.7615	15.9586	0.79910	0.0:0.0:0.0:1.0	.	171	Q6QEF8-5	.	V	242;171;171	ENSP00000373419:D171V;ENSP00000393624:D171V	ENSP00000344562:D242V	D	-	2	0	CORO6	24970055	1.000000	0.71417	0.934000	0.37439	0.989000	0.77384	7.606000	0.82863	2.234000	0.73211	0.459000	0.35465	GAT		0.587	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854		26	56	0	0	0	0.007291	0	26	56				
NF1	4763	broad.mit.edu	37	17	29670033	29670033	+	Nonsense_Mutation	SNP	G	G	T	rs199474784		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:29670033G>T	ENST00000358273.4	+	48	7452	c.7069G>T	c.(7069-7071)Gag>Tag	p.E2357*	NF1_ENST00000444181.2_Nonsense_Mutation_p.E150*|NF1_ENST00000356175.3_Nonsense_Mutation_p.E2336*|NF1_ENST00000417592.2_Nonsense_Mutation_p.E70*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2357			E -> K (in NF1; dbSNP:rs199474784). {ECO:0000269|PubMed:11735023}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.E2357*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATAGAGTCCAGAGGAAGTATT	0.363			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(3)|Substitution - Nonsense(2)		soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CM013781	NF1	M		c.(7069-7071)GAG>TAG		neurofibromin isoform 1							91.0	95.0	94.0					17																	29670033		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29670033G>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7069G>T	17.37:g.29670033G>T	ENSP00000351015:p.Glu2357*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Nonsense_Mutation_p.E2336*|NF1_uc010cso.2_Nonsense_Mutation_p.E545*|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA	p.E2357*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	48	7402	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2357		E -> K (in NF1).			O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.7069G>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107285	0.77096	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	.	.	.	5.53	5.53	0.82687	.	0.111959	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	19.476	0.94989	0.0:0.0:1.0:0.0	.	.	.	.	X	2357;2336;2002;150;70	.	ENSP00000348498:E2336X	E	+	1	0	NF1	26694159	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.022000	0.93678	2.616000	0.88540	0.563000	0.77884	GAG		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		22	64	1	0	1.10513e-12	0.002299	1.6967e-12	22	64				
SLFN11	91607	broad.mit.edu	37	17	33687322	33687322	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:33687322G>T	ENST00000394566.1	-	5	1410	c.1138C>A	c.(1138-1140)Cca>Aca	p.P380T	SLFN11_ENST00000308377.4_Missense_Mutation_p.P380T	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	380					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.P380T(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGTACACTGGTCTGCTAAGG	0.393																																							uc010ctp.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1138-1140)CCA>ACA		schlafen family member 11							88.0	93.0	92.0					17																	33687322		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33687322G>T	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.1138C>A	17.37:g.33687322G>T	ENSP00000378067:p.Pro380Thr					SLFN11_uc010ctq.2_Missense_Mutation_p.P380T|SLFN11_uc002hjh.3_Missense_Mutation_p.P380T|SLFN11_uc002hjg.3_Missense_Mutation_p.P380T|SLFN11_uc010ctr.2_Missense_Mutation_p.P380T	p.P380T	NM_001104588	NP_001098058	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	1580	-		Ovarian(249;0.17)	380					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.1138C>A	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	G	6.461	0.453292	0.12283	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.02015	4.5;4.5	4.0	4.0	0.46444	.	0.000000	0.44902	D	0.000403	T	0.08447	0.0210	L	0.61036	1.89	0.30651	N	0.75547	D	0.89917	1.0	D	0.68353	0.957	T	0.01894	-1.1252	10	0.33940	T	0.23	.	11.4895	0.50373	0.0:0.0:1.0:0.0	.	380	Q7Z7L1	SLN11_HUMAN	T	380	ENSP00000312402:P380T;ENSP00000378067:P380T	ENSP00000312402:P380T	P	-	1	0	SLFN11	30711435	0.912000	0.30974	0.995000	0.50966	0.064000	0.16182	1.219000	0.32479	2.056000	0.61249	0.655000	0.94253	CCA		0.393	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		28	83	1	0	7.41945e-09	0.005443	1.03004e-08	28	83				
GGNBP2	79893	broad.mit.edu	37	17	34935847	34935847	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:34935847G>C	ENST00000304718.4	+	8	1334	c.1018G>C	c.(1018-1020)Gag>Cag	p.E340Q		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	340					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.E340Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CAAGAGTTTTGAGGTAAGAAC	0.443																																							uc002hnb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1018-1020)GAG>CAG		zinc finger protein 403							117.0	110.0	112.0					17																	34935847		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34935847G>C	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1018G>C	17.37:g.34935847G>C	ENSP00000307617:p.Glu340Gln					GGNBP2_uc002hna.2_Missense_Mutation_p.E340Q|GGNBP2_uc002hnc.1_Missense_Mutation_p.E169Q	p.E340Q	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	8	1267	+		Breast(25;0.00957)|Ovarian(249;0.17)	340					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.1018G>C	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379388	0.82682	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.67002	0.2847	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.61734	-0.7002	9	0.26408	T	0.33	-15.2372	19.7448	0.96248	0.0:0.0:1.0:0.0	.	340;340;340	A8K3S2;Q9H3C7;Q9H3C7-3	.;GGNB2_HUMAN;.	Q	340	.	ENSP00000307617:E340Q	E	+	1	0	GGNBP2	32009960	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	9.082000	0.94059	2.666000	0.90696	0.460000	0.39030	GAG		0.443	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		6	131	0	0	0	0.001984	0	6	131				
DDX52	11056	broad.mit.edu	37	17	35980934	35980934	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:35980934T>A	ENST00000349699.2	-	12	1604	c.1561A>T	c.(1561-1563)Aag>Tag	p.K521*	DDX52_ENST00000394367.3_Nonsense_Mutation_p.K413*	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	521	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.K521*(1)		biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				AATAATGGCTTATCATCCTCA	0.299																																							uc002hoi.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1561-1563)AAG>TAG		ATP-dependent RNA helicase ROK1 isoform a							81.0	82.0	82.0					17																	35980934		2202	4300	6502	SO:0001587	stop_gained	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:35980934T>A	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.1561A>T	17.37:g.35980934T>A	ENSP00000268854:p.Lys521*					DDX52_uc002hoh.1_Nonsense_Mutation_p.K413*	p.K521*	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN			12	1599	-		Breast(25;0.00637)|Ovarian(249;0.15)	521			Helicase C-terminal.		Q86YG1|Q8N213|Q9NVE0|Q9Y482	Nonsense_Mutation	SNP	ENST00000349699.2	37	c.1561A>T	CCDS11323.1	.	.	.	.	.	.	.	.	.	.	T	42	9.326636	0.99138	.	.	ENSG00000141141	ENST00000349699;ENST00000394367	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.3408	0.74296	0.0:0.0:0.0:1.0	.	.	.	.	X	521;413	.	ENSP00000268854:K521X	K	-	1	0	DDX52	33055047	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.419000	0.80179	2.216000	0.71823	0.533000	0.62120	AAG		0.299	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		10	45	0	0	0	0.008291	0	10	45				
MED1	5469	broad.mit.edu	37	17	37595433	37595433	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:37595433A>G	ENST00000394287.3	-	6	618	c.413T>C	c.(412-414)cTt>cCt	p.L138P	MED1_ENST00000300651.6_Missense_Mutation_p.L138P			O95243	MBD4_HUMAN	mediator complex subunit 1	0	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.L138P(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTGCTGTACAAGCTCCGGACA	0.348										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	Pancreas(21;279 768 2492 4877 24026)	uc002hrv.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8						c.(412-414)CTT>CCT		mediator complex subunit 1							92.0	90.0	91.0					17																	37595433		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37595433A>G	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.413T>C	17.37:g.37595433A>G	ENSP00000377828:p.Leu138Pro	HNSCC(31;0.082)				MED1_uc010wee.1_5'UTR|MED1_uc002hru.2_Missense_Mutation_p.L138P	p.L138P	NM_004774	NP_004765	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	6	625	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	138			Interaction with ESR1.|Interaction with the Mediator complex.|Interaction with the Mediator complex and THRA.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000394287.3	37	c.413T>C		.	.	.	.	.	.	.	.	.	.	A	22.4	4.281377	0.80692	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.56275	0.47	5.35	5.35	0.76521	Mediator complex, subunit Med1, metazoa/fungi (1);	.	.	.	.	T	0.73931	0.3650	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78336	-0.2243	9	0.87932	D	0	-9.6349	15.2796	0.73770	1.0:0.0:0.0:0.0	.	138;138	Q15648;Q15648-3	MED1_HUMAN;.	P	138	ENSP00000300651:L138P	ENSP00000300651:L138P	L	-	2	0	MED1	34848959	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.432000	0.80349	2.140000	0.66376	0.482000	0.46254	CTT		0.348	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000256944.1	NM_004774		19	112	0	0	0	0.003954	0	19	112				
KRT38	8687	broad.mit.edu	37	17	39596834	39596834	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:39596834G>C	ENST00000246646.3	-	1	339	c.340C>G	c.(340-342)Cgc>Ggc	p.R114G		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>GGC		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>C	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>G	17.37:g.39596834G>C	ENSP00000246646:p.Arg114Gly						p.R114G	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>G	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435165	0.83885	.	.	ENSG00000171360	ENST00000246646	D	0.94092	-3.35	4.45	4.45	0.53987	Filament (1);	0.000000	0.49916	D	0.000136	D	0.97926	0.9318	H	0.98027	4.13	0.48830	D	0.999717	D	0.76494	0.999	D	0.69824	0.966	D	0.99414	1.0931	10	0.87932	D	0	.	15.8272	0.78718	0.0:0.0:1.0:0.0	.	114	O76015	KRT38_HUMAN	G	114	ENSP00000246646:R114G	ENSP00000246646:R114G	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		37	101	0	0	0	0.004878	0	37	101				
STAT5A	6776	broad.mit.edu	37	17	40452733	40452733	+	Splice_Site	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:40452733G>A	ENST00000345506.4	+	9	1476	c.834G>A	c.(832-834)tgG>tgA	p.W278*	STAT5A_ENST00000452307.2_Splice_Site_p.W278*|STAT5A_ENST00000588868.1_Splice_Site_p.W278*|STAT5A_ENST00000546010.2_Splice_Site_p.W248*|STAT5A_ENST00000590949.1_Splice_Site_p.W278*	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	278					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.W278*(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TCTCGTGCAGGTGTGAGAAGT	0.637																																							uc002hzj.1		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(1)	1						c.(832-834)TGG>TGA		signal transducer and activator of transcription							56.0	49.0	51.0					17																	40452733		2202	4300	6502	SO:0001630	splice_region_variant	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40452733G>A	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.834-1G>A	17.37:g.40452733G>A						STAT5A_uc010cya.1_Nonsense_Mutation_p.W278*|STAT5A_uc010cyb.1_Nonsense_Mutation_p.W278*|STAT5A_uc010cyc.1_Nonsense_Mutation_p.W248*	p.W278*	NM_003152	NP_003143	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	9	1476	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	278					Q1KLZ6	Nonsense_Mutation	SNP	ENST00000345506.4	37	c.834G>A	CCDS11424.1	.	.	.	.	.	.	.	.	.	.	G	36	5.718159	0.96839	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	.	.	.	4.22	4.22	0.49857	.	0.061386	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6332	0.85039	0.0:0.0:1.0:0.0	.	.	.	.	X	278;248;280;278	.	.	W	+	3	0	STAT5A	37706259	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.229000	0.95273	1.898000	0.54952	0.306000	0.20318	TGG		0.637	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152	Nonsense_Mutation	6	44	0	0	0	0.004482	0	6	44				
AOC2	314	broad.mit.edu	37	17	40997147	40997147	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:40997147G>A	ENST00000253799.3	+	1	531	c.504G>A	c.(502-504)ctG>ctA	p.L168L	AOC2_ENST00000452774.2_Silent_p.L168L	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	168					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.L168L(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GCCCGGTGCTGAGAGCTGAGT	0.612																																							uc002ibu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(502-504)CTG>CTA		amine oxidase, copper containing 2 isoform b							42.0	38.0	39.0					17																	40997147		2203	4298	6501	SO:0001819	synonymous_variant	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997147G>A	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.504G>A	17.37:g.40997147G>A						AOC2_uc002ibt.2_Silent_p.L168L	p.L168L	NM_009590	NP_033720	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	539	+		Breast(137;0.000143)	168					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Silent	SNP	ENST00000253799.3	37	c.504G>A	CCDS11443.1																																																																																				0.612	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		4	61	0	0	0	0.009096	0	4	61				
BRCA1	672	broad.mit.edu	37	17	41243499	41243499	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:41243499C>G	ENST00000357654.3	-	10	4167	c.4049G>C	c.(4048-4050)gGc>gCc	p.G1350A	BRCA1_ENST00000493795.1_Missense_Mutation_p.G1303A|BRCA1_ENST00000309486.4_Missense_Mutation_p.G1054A|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.G1350A|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.G1350A|BRCA1_ENST00000471181.2_Missense_Mutation_p.G1350A	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1350					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G1350A(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCTTCCAAGCCCGTTCCTCT	0.408			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													uc002icq.2		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		1	Substitution - Missense(1)		lung(1)	ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(4048-4050)GGC>GCC	Homologous_recombination	breast cancer 1, early onset isoform 1							132.0	131.0	132.0					17																	41243499		2203	4300	6503	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41243499C>G	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4049G>C	17.37:g.41243499C>G	ENSP00000350283:p.Gly1350Ala	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.G1279A|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.G1303A|BRCA1_uc002ict.2_Missense_Mutation_p.G1350A|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.G1350A|BRCA1_uc002ide.1_Missense_Mutation_p.G1181A|BRCA1_uc010cyy.1_Missense_Mutation_p.G1350A|BRCA1_uc010whs.1_Missense_Mutation_p.G1350A|BRCA1_uc010cyz.2_Missense_Mutation_p.G1303A|BRCA1_uc010cza.2_Missense_Mutation_p.G1324A|BRCA1_uc010wht.1_Missense_Mutation_p.G1054A	p.G1350A	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	10	4281	-		Breast(137;0.000717)	1350					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.4049G>C	CCDS11453.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.032|0.032	-1.327798|-1.327798	0.01309|0.01309	.|.	.|.	ENSG00000012048|ENSG00000012048	ENST00000461574|ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795	.|D;D;D;D;D;D	.|0.87256	.|-2.1;-2.22;-2.2;-2.0;-2.1;-2.23	5.19|5.19	-0.305|-0.305	0.12784|0.12784	.|.	.|0.664107	.|0.13965	.|N	.|0.350541	T|T	0.69726|0.69726	0.3143|0.3143	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.24963	.|0.07;0.07;0.07;0.07;0.001;0.115	.|B;B;B;B;B;B	.|0.25140	.|0.043;0.043;0.043;0.043;0.002;0.058	T|T	0.56232|0.56232	-0.8013|-0.8013	5|10	.|0.21540	.|T	.|0.41	.|.	4.3832|4.3832	0.11304|0.11304	0.0:0.4276:0.1609:0.4114|0.0:0.4276:0.1609:0.4114	.|.	.|1350;1309;1350;1350;1350;1350	.|E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.|.;.;.;.;BRCA1_HUMAN;.	P|A	115|1350;1350;1350;1350;1054;1350;1303	.|ENSP00000350283:G1350A;ENSP00000326002:G1350A;ENSP00000246907:G1350A;ENSP00000310938:G1054A;ENSP00000418960:G1350A;ENSP00000418775:G1303A	.|ENSP00000310938:G1054A	A|G	-|-	1|2	0|0	BRCA1|BRCA1	38497025|38497025	0.000000|0.000000	0.05858|0.05858	0.214000|0.214000	0.23707|0.23707	0.025000|0.025000	0.11179|0.11179	-0.494000|-0.494000	0.06451|0.06451	0.367000|0.367000	0.24454|0.24454	-0.751000|-0.751000	0.03497|0.03497	GCT|GGC		0.408	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		31	83	0	0	0	0.010818	0	31	83				
SOST	50964	broad.mit.edu	37	17	41832830	41832830	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:41832830G>T	ENST00000301691.2	-	2	568	c.522C>A	c.(520-522)caC>caA	p.H174Q		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	174					cellular response to parathyroid hormone stimulus (GO:0071374)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|response to mechanical stimulus (GO:0009612)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|transcription factor binding (GO:0008134)	p.H174Q(1)		large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		CCGACTGGTTGTGGAAGCGGG	0.736																																							uc002iec.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(520-522)CAC>CAA		sclerostin precursor							19.0	24.0	22.0					17																	41832830		2154	4238	6392	SO:0001583	missense	50964				negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding	g.chr17:41832830G>T	AF326736	CCDS11468.1	17q12-q21	2014-06-28	2010-04-28			ENSG00000167941			13771	protein-coding gene	gene with protein product		605740	"""sclerosteosis"""			11179006, 11181578	Standard	NM_025237		Approved	VBCH	uc002iec.1	Q9BQB4		ENST00000301691.2:c.522C>A	17.37:g.41832830G>T	ENSP00000301691:p.His174Gln						p.H174Q	NM_025237	NP_079513	Q9BQB4	SOST_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)	2	569	-		Breast(137;0.00725)	174					Q495N9	Missense_Mutation	SNP	ENST00000301691.2	37	c.522C>A	CCDS11468.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240048	0.79912	.	.	ENSG00000167941	ENST00000301691	T	0.78707	-1.2	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.76335	0.3973	L	0.53249	1.67	0.58432	D	0.99999	P	0.35821	0.523	B	0.40329	0.326	T	0.77795	-0.2454	10	0.45353	T	0.12	-16.1465	15.0257	0.71669	0.0:0.0:1.0:0.0	.	174	Q9BQB4	SOST_HUMAN	Q	174	ENSP00000301691:H174Q	ENSP00000301691:H174Q	H	-	3	2	SOST	39188356	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.837000	0.62796	2.208000	0.71279	0.655000	0.94253	CAC		0.736	SOST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453502.1	NM_025237		7	64	1	0	0.000157383	0.00308	0.000178208	7	64				
ADAM11	4185	broad.mit.edu	37	17	42855137	42855137	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:42855137T>C	ENST00000200557.6	+	23	2145	c.1976T>C	c.(1975-1977)aTg>aCg	p.M659T	ADAM11_ENST00000535346.1_Missense_Mutation_p.M459T	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	659	Cys-rich.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.M659T(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GGGCCTAACATGTTGTGCCTG	0.647																																							uc002ihh.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1975-1977)ATG>ACG		ADAM metallopeptidase domain 11 preproprotein							49.0	46.0	47.0					17																	42855137		2203	4299	6502	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42855137T>C	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1976T>C	17.37:g.42855137T>C	ENSP00000200557:p.Met659Thr					ADAM11_uc010wjd.1_Missense_Mutation_p.M459T|ADAM11_uc002ihi.2_Missense_Mutation_p.C12R	p.M659T	NM_002390	NP_002381	O75078	ADA11_HUMAN			23	1976	+		Prostate(33;0.0959)	659			Cys-rich.|Extracellular (Potential).		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.1976T>C	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	T	19.93	3.918561	0.73098	.	.	ENSG00000073670	ENST00000200557;ENST00000535346	T;T	0.02067	4.47;4.88	4.36	4.36	0.52297	ADAM, cysteine-rich (1);	0.000000	0.85682	D	0.000000	T	0.08179	0.0204	M	0.79475	2.455	0.80722	D	1	P;D	0.57571	0.915;0.98	P;P	0.54238	0.679;0.746	T	0.13764	-1.0497	10	0.38643	T	0.18	.	12.6722	0.56874	0.0:0.0:0.0:1.0	.	459;659	B4DKD2;O75078	.;ADA11_HUMAN	T	659;459	ENSP00000200557:M659T;ENSP00000443773:M459T	ENSP00000200557:M659T	M	+	2	0	ADAM11	40210663	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.764000	0.85297	1.830000	0.53286	0.459000	0.35465	ATG		0.647	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		9	45	0	0	0	0.004482	0	9	45				
ADAM11	4185	broad.mit.edu	37	17	42855212	42855212	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:42855212G>A	ENST00000200557.6	+	23	2220	c.2051G>A	c.(2050-2052)cGg>cAg	p.R684Q	ADAM11_ENST00000535346.1_Missense_Mutation_p.R484Q	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	684	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R684Q(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GGGGAGCGCCGGATTTGCTCC	0.657																																							uc002ihh.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(2050-2052)CGG>CAG		ADAM metallopeptidase domain 11 preproprotein							35.0	36.0	36.0					17																	42855212		2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42855212G>A	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.2051G>A	17.37:g.42855212G>A	ENSP00000200557:p.Arg684Gln					ADAM11_uc010wjd.1_Missense_Mutation_p.R484Q|ADAM11_uc002ihi.2_Missense_Mutation_p.G37R	p.R684Q	NM_002390	NP_002381	O75078	ADA11_HUMAN			23	2051	+		Prostate(33;0.0959)	684			EGF-like.|Extracellular (Potential).		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.2051G>A	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	G	9.234	1.036551	0.19669	.	.	ENSG00000073670	ENST00000200557;ENST00000535346	T;T	0.29142	3.16;1.58	4.36	3.39	0.38822	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.307497	0.29668	N	0.011518	T	0.11879	0.0289	N	0.05177	-0.1	0.35587	D	0.806764	B;B	0.21381	0.012;0.055	B;B	0.11329	0.006;0.006	T	0.11743	-1.0575	10	0.25751	T	0.34	.	3.8391	0.08906	0.1985:0.0:0.6091:0.1924	.	484;684	B4DKD2;O75078	.;ADA11_HUMAN	Q	684;484	ENSP00000200557:R684Q;ENSP00000443773:R484Q	ENSP00000200557:R684Q	R	+	2	0	ADAM11	40210738	0.705000	0.27846	0.952000	0.39060	0.936000	0.57629	1.675000	0.37555	1.052000	0.40392	0.561000	0.74099	CGG		0.657	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		11	51	0	0	0	0.010729	0	11	51				
KIF18B	146909	broad.mit.edu	37	17	43013481	43013481	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:43013481C>A	ENST00000593135.1	-	2	329	c.232G>T	c.(232-234)Gag>Tag	p.E78*	KIF18B_ENST00000339151.4_Nonsense_Mutation_p.E78*|KIF18B_ENST00000590129.1_Nonsense_Mutation_p.E87*|KIF18B_ENST00000438933.2_Nonsense_Mutation_p.E78*|KIF18B_ENST00000587309.1_Nonsense_Mutation_p.E78*	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	87	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.E78*(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GTGGCCGCCTCGCCAAAGACC	0.612																																							uc010wji.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(232-234)GAG>TAG		kinesin family member 18B							46.0	53.0	50.0					17																	43013481		2139	4246	6385	SO:0001587	stop_gained	146909							g.chr17:43013481C>A		CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.232G>T	17.37:g.43013481C>A	ENSP00000465992:p.Glu78*					KIF18B_uc002iht.2_Nonsense_Mutation_p.E78*|KIF18B_uc010wjh.1_Nonsense_Mutation_p.E78*	p.E78*	NM_001080443	NP_001073912					2	333	-		Prostate(33;0.155)						A6NJI2|B7ZM49|B9EGM8|D5L6I1	Nonsense_Mutation	SNP	ENST00000593135.1	37	c.232G>T	CCDS45709.2	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700522	0.68501	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	.	.	.	5.46	5.46	0.80206	.	0.000000	0.36932	N	0.002334	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.2749	0.94027	0.0:1.0:0.0:0.0	.	.	.	.	X	78	.	ENSP00000341466:E78X	E	-	1	0	KIF18B	40369007	1.000000	0.71417	0.805000	0.32314	0.024000	0.10985	7.442000	0.80503	2.739000	0.93911	0.555000	0.69702	GAG		0.612	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000448724.1	NM_001080443		8	45	1	0	7.48243e-07	0.006214	9.59663e-07	8	45				
HEXIM1	10614	broad.mit.edu	37	17	43227518	43227518	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:43227518C>T	ENST00000332499.2	+	1	2835	c.961C>T	c.(961-963)Cgt>Tgt	p.R321C	AC002117.1_ENST00000589950.1_RNA|AC002117.1_ENST00000452741.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	321	Required for inhibition of ESR1-dependent transcription.				heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)	p.R321C(1)		breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGACGACGCGCGTGTGCGGGA	0.672																																							uc002iig.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(961-963)CGT>TGT		hexamethylene bis-acetamide inducible 1							39.0	49.0	46.0					17																	43227518		2202	4297	6499	SO:0001583	missense	10614				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding	g.chr17:43227518C>T	AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.961C>T	17.37:g.43227518C>T	ENSP00000328773:p.Arg321Cys						p.R321C	NM_006460	NP_006451	O94992	HEXI1_HUMAN			1	2835	+			321			Potential.|Required for inhibition of ESR1-dependent transcription.		B2R8Y5	Missense_Mutation	SNP	ENST00000332499.2	37	c.961C>T	CCDS11495.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243059	0.79912	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.67674	0.2918	L	0.55481	1.735	0.58432	D	0.999998	D	0.89917	1.0	D	0.68353	0.957	T	0.70026	-0.4985	9	0.87932	D	0	-8.4105	9.8438	0.41015	0.2043:0.7957:0.0:0.0	.	321	O94992	HEXI1_HUMAN	C	321	.	ENSP00000328773:R321C	R	+	1	0	HEXIM1	40583301	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.040000	0.49799	2.338000	0.79540	0.561000	0.74099	CGT		0.672	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449821.2	NM_006460		24	87	0	0	0	0.007291	0	24	87				
SCRN2	90507	broad.mit.edu	37	17	45915787	45915787	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:45915787A>G	ENST00000290216.9	-	7	1093	c.968T>C	c.(967-969)aTg>aCg	p.M323T	SCRN2_ENST00000407215.3_Missense_Mutation_p.M323T|SCRN2_ENST00000584123.1_Missense_Mutation_p.M331T	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	323			M -> V (in dbSNP:rs7350974). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.3}.			extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)	p.M323T(1)		cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GGCCACCCCCATCCCGAAGAT	0.582																																							uc002imd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(967-969)ATG>ACG		secernin 2 isoform 1							53.0	65.0	61.0					17																	45915787		2196	4295	6491	SO:0001583	missense	90507				proteolysis		dipeptidase activity	g.chr17:45915787A>G	BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.968T>C	17.37:g.45915787A>G	ENSP00000290216:p.Met323Thr					SCRN2_uc002imc.2_Missense_Mutation_p.M331T|SCRN2_uc002imf.2_Missense_Mutation_p.M323T|SCRN2_uc002ime.2_RNA	p.M323T	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN			7	1094	-			323					A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Missense_Mutation	SNP	ENST00000290216.9	37	c.968T>C	CCDS11519.1	.	.	.	.	.	.	.	.	.	.	A	2.978	-0.210867	0.06140	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	T;T	0.06933	3.4;3.24	5.66	-5.86	0.02304	.	1.070730	0.07142	N	0.847504	T	0.02727	0.0082	N	0.02539	-0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.48980	-0.8986	10	0.18710	T	0.47	-0.6985	8.4126	0.32653	0.2183:0.0:0.5606:0.2211	.	323;323	E9PBV5;Q96FV2	.;SCRN2_HUMAN	T	323	ENSP00000290216:M323T;ENSP00000383935:M323T	ENSP00000290216:M323T	M	-	2	0	SCRN2	43270786	0.000000	0.05858	0.004000	0.12327	0.299000	0.27559	0.527000	0.22987	-0.875000	0.04022	-0.250000	0.11733	ATG		0.582	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	NM_138355		7	143	0	0	0	0.010729	0	7	143				
HOXB9	3219	broad.mit.edu	37	17	46703206	46703206	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:46703206C>A	ENST00000311177.5	-	1	633	c.426G>T	c.(424-426)gcG>gcT	p.A142A	HOXB-AS4_ENST00000480386.1_RNA|HOXB9_ENST00000550387.1_Intron|HOXB7_ENST00000567101.2_Intron	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	142					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.A142A(1)		breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						CCTCCCTGCCCGCCGAAGTTT	0.612																																							uc002inx.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(424-426)GCG>GCT		homeobox B9							36.0	40.0	39.0					17																	46703206		2203	4300	6503	SO:0001819	synonymous_variant	3219				canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46703206C>A		CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.426G>T	17.37:g.46703206C>A							p.A142A	NM_024017	NP_076922	P17482	HXB9_HUMAN			1	630	-			142					B2RDB7|Q9H1I1	Silent	SNP	ENST00000311177.5	37	c.426G>T	CCDS11534.1	.	.	.	.	.	.	.	.	.	.	C	9.677	1.148199	0.21288	.	.	ENSG00000170689	ENST00000442657	.	.	.	4.84	2.68	0.31781	.	.	.	.	.	T	0.64951	0.2645	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67585	-0.5633	5	0.87932	D	0	.	9.6029	0.39615	0.3166:0.495:0.1884:0.0	.	.	.	.	W	122	.	ENSP00000411988:G122W	G	-	1	0	HOXB9	44058205	0.678000	0.27586	1.000000	0.80357	0.998000	0.95712	0.064000	0.14437	1.134000	0.42165	0.555000	0.69702	GGG		0.612	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358101.2			9	76	1	0	0.000978159	0.010729	0.00106486	9	76				
FAM117A	81558	broad.mit.edu	37	17	47794983	47794983	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:47794983C>A	ENST00000240364.2	-	6	881	c.802G>T	c.(802-804)Gcc>Tcc	p.A268S	RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000514018.1_5'UTR|FAM117A_ENST00000513602.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	268								p.A268S(1)		haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						GGAGAGCTGGCAAGGTTGCCA	0.632																																							uc002ipk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(802-804)GCC>TCC		family with sequence similarity 117, member A							48.0	47.0	47.0					17																	47794983		2203	4300	6503	SO:0001583	missense	81558							g.chr17:47794983C>A	BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.802G>T	17.37:g.47794983C>A	ENSP00000240364:p.Ala268Ser					FAM117A_uc010wlz.1_5'UTR	p.A268S	NM_030802	NP_110429	Q9C073	F117A_HUMAN			6	871	-			268					B7Z7Q3	Missense_Mutation	SNP	ENST00000240364.2	37	c.802G>T	CCDS11553.1	.	.	.	.	.	.	.	.	.	.	C	5.133	0.210114	0.09757	.	.	ENSG00000121104	ENST00000240364;ENST00000511743	.	.	.	5.14	0.451	0.16629	.	1.150730	0.06242	N	0.690558	T	0.13927	0.0337	N	0.00841	-1.15	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.52305	-0.8593	9	0.02654	T	1	-16.5837	3.8086	0.08788	0.4305:0.3702:0.0:0.1993	.	268	Q9C073	F117A_HUMAN	S	268;158	.	ENSP00000240364:A268S	A	-	1	0	FAM117A	45149982	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	0.533000	0.23082	0.287000	0.22375	0.655000	0.94253	GCC		0.632	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802		19	51	1	0	0.000958276	0.007413	0.0010443	19	51				
KIF2B	84643	broad.mit.edu	37	17	51901063	51901063	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:51901063C>G	ENST00000268919.4	+	1	825	c.669C>G	c.(667-669)ctC>ctG	p.L223L		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	223	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L223L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCGGCCTCTCAACCAGCGAG	0.552																																							uc002iua.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)	8						c.(667-669)CTC>CTG		kinesin family member 2B							94.0	79.0	85.0					17																	51901063		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901063C>G	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.669C>G	17.37:g.51901063C>G						uc010wna.1_RNA	p.L223L	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	825	+			223			Kinesin-motor.		Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.669C>G	CCDS32685.1																																																																																				0.552	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		12	42	0	0	0	0.001368	0	12	42				
SEPT4	5414	broad.mit.edu	37	17	56602523	56602523	+	Missense_Mutation	SNP	A	A	G	rs112657072		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:56602523A>G	ENST00000317268.3	-	5	754	c.578T>C	c.(577-579)gTg>gCg	p.V193A	SEPT4_ENST00000580809.1_Missense_Mutation_p.V75A|SEPT4_ENST00000393086.1_Missense_Mutation_p.V174A|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000583114.1_Missense_Mutation_p.V46A|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000317256.6_Missense_Mutation_p.V174A|SEPT4_ENST00000580791.1_5'Flank|SEPT4_ENST00000580844.1_Missense_Mutation_p.V94A|SEPT4_ENST00000457347.2_Missense_Mutation_p.V208A|SEPT4_ENST00000412945.3_Missense_Mutation_p.V185A|SEPT4_ENST00000579371.1_Missense_Mutation_p.V94A|SEPT4_ENST00000426861.1_Missense_Mutation_p.V174A	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	193	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.V174A(1)|p.V193A(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCTATGTCCACTGCATGCTT	0.537																																							uc002iwm.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(577-579)GTG>GCG		septin 4 isoform 1		A	ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL	0,4406		0,0,2203	270.0	207.0	228.0		554,578,521,521	5.2	1.0	17	dbSNP_132	228	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense,missense	SEPT4	NM_001198713.1,NM_004574.3,NM_080415.2,NM_080416.2	64,64,64,64	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	185/471,193/479,174/275,174/460	56602523	2,13004	2203	4300	6503	SO:0001583	missense	5414				apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr17:56602523A>G	AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.578T>C	17.37:g.56602523A>G	ENSP00000321674:p.Val193Ala					SEPT4_uc002iwk.1_Missense_Mutation_p.V46A|SEPT4_uc010wnw.1_Missense_Mutation_p.V46A|SEPT4_uc002iwl.1_Missense_Mutation_p.V46A|SEPT4_uc002iwn.1_Missense_Mutation_p.V94A|SEPT4_uc002iwo.1_Missense_Mutation_p.V174A|SEPT4_uc002iwp.1_Missense_Mutation_p.V174A|SEPT4_uc010wnx.1_Missense_Mutation_p.V208A|SEPT4_uc010wny.1_Missense_Mutation_p.V185A|SEPT4_uc010dcy.1_Missense_Mutation_p.V75A	p.V193A	NM_004574	NP_004565	O43236	SEPT4_HUMAN			5	706	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		193					B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	ENST00000317268.3	37	c.578T>C	CCDS11610.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.444109	0.43429	0.0	2.33E-4	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086;ENST00000426861	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.19	5.19	0.71726	.	0.140018	0.46442	D	0.000292	T	0.43656	0.1257	L	0.48362	1.52	0.80722	D	1	P;P;B;B;P;B;P	0.44241	0.813;0.825;0.32;0.072;0.795;0.013;0.829	B;B;B;B;P;B;P	0.51806	0.396;0.243;0.226;0.145;0.551;0.015;0.68	T	0.20140	-1.0284	10	0.33940	T	0.23	.	13.2862	0.60245	1.0:0.0:0.0:0.0	.	185;208;46;174;174;46;193	O43236-3;O43236-4;B3KR63;O43236-6;O43236-2;O43236-5;O43236	.;.;.;.;.;.;SEPT4_HUMAN	A	185;207;174;193;174;174	ENSP00000414779:V185A;ENSP00000321071:V174A;ENSP00000321674:V193A;ENSP00000376801:V174A;ENSP00000402348:V174A	ENSP00000321071:V174A	V	-	2	0	SEPT4	53957522	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.249000	0.95470	2.084000	0.62774	0.528000	0.53228	GTG		0.537	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445420.1	NM_080417		25	180	0	0	0	0.00333	0	25	180				
TEX14	56155	broad.mit.edu	37	17	56676440	56676440	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:56676440C>G	ENST00000240361.8	-	14	2369	c.2284G>C	c.(2284-2286)Gat>Cat	p.D762H	TEX14_ENST00000349033.5_Missense_Mutation_p.D756H|TEX14_ENST00000389934.3_Missense_Mutation_p.D756H			Q8IWB6	TEX14_HUMAN	testis expressed 14	762					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.D762H(1)|p.D756H(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGACTTCATCTAATATCTGC	0.433																																							uc010dcz.1		NA																	2	Substitution - Missense(2)		lung(2)	stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17						c.(2284-2286)GAT>CAT		testis expressed sequence 14 isoform a							221.0	202.0	208.0					17																	56676440		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56676440C>G	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2284G>C	17.37:g.56676440C>G	ENSP00000240361:p.Asp762His					TEX14_uc002iwr.1_Missense_Mutation_p.D756H|TEX14_uc002iws.1_Missense_Mutation_p.D756H|TEX14_uc010dda.1_Missense_Mutation_p.D536H	p.D762H	NM_198393	NP_938207	Q8IWB6	TEX14_HUMAN			14	2402	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		762			Potential.		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.2284G>C	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298358	0.60195	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.81163	-1.46;-1.46;-1.43	5.63	-0.413	0.12363	.	0.857389	0.10396	N	0.679722	T	0.78717	0.4327	L	0.44542	1.39	0.09310	N	1	P;D;D	0.54601	0.944;0.967;0.967	P;P;P	0.54100	0.557;0.742;0.742	T	0.67011	-0.5778	10	0.66056	D	0.02	0.0014	5.8422	0.18639	0.0:0.5679:0.1263:0.3058	.	762;756;756	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	H	762;756;756	ENSP00000240361:D762H;ENSP00000374584:D756H;ENSP00000268910:D756H	ENSP00000240361:D762H	D	-	1	0	TEX14	54031439	0.000000	0.05858	0.000000	0.03702	0.228000	0.25075	0.204000	0.17335	-0.252000	0.09528	-0.140000	0.14226	GAT		0.433	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			51	116	0	0	0	0.00361	0	51	116				
APPBP2	10513	broad.mit.edu	37	17	58539393	58539393	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:58539393C>A	ENST00000083182.3	-	7	1079	c.792G>T	c.(790-792)aaG>aaT	p.K264N	APPBP2_ENST00000592995.1_5'UTR	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	264					intracellular protein transport (GO:0006886)|intracellular transport (GO:0046907)|metabolic process (GO:0008152)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	microtubule motor activity (GO:0003777)	p.K264N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ACTGTTCTGCCTTCTTAAATT	0.284																																							uc002iys.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(790-792)AAG>AAT		amyloid beta precursor protein-binding protein							113.0	121.0	118.0					17																	58539393		2203	4294	6497	SO:0001583	missense	10513				intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	g.chr17:58539393C>A	AF017782	CCDS32699.1	17q23.2	2012-09-20	2001-11-28		ENSG00000062725	ENSG00000062725			622	protein-coding gene	gene with protein product	"""protein interacting with APP tail 1"""	605324	"""amyloid beta precursor protein (cytoplasmic tail)-binding protein 2"""			9843960	Standard	NM_006380		Approved	KIAA0228, Hs.84084, PAT1	uc002iys.1	Q92624		ENST00000083182.3:c.792G>T	17.37:g.58539393C>A	ENSP00000083182:p.Lys264Asn					APPBP2_uc010ddl.1_Missense_Mutation_p.K193N	p.K264N	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)		7	1080	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		264					A8K862|O95095|Q8WVC9	Missense_Mutation	SNP	ENST00000083182.3	37	c.792G>T	CCDS32699.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.627010	0.46840	.	.	ENSG00000062725	ENST00000083182	T	0.79454	-1.27	5.57	0.248	0.15526	Tetratricopeptide-like helical (1);	0.040532	0.85682	D	0.000000	T	0.67970	0.2950	L	0.50333	1.59	0.54753	D	0.99998	B	0.23058	0.079	B	0.16289	0.015	T	0.61510	-0.7048	10	0.59425	D	0.04	-20.1878	9.6534	0.39910	0.0:0.5829:0.0:0.4171	.	264	Q92624	APBP2_HUMAN	N	264	ENSP00000083182:K264N	ENSP00000083182:K264N	K	-	3	2	APPBP2	55894175	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.824000	0.27379	0.058000	0.16222	0.557000	0.71058	AAG		0.284	APPBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449465.1	NM_006380		27	193	1	0	1.80694e-10	0.009535	2.63471e-10	27	193				
CACNG5	27091	broad.mit.edu	37	17	64875131	64875131	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:64875131C>T	ENST00000533854.1	+	3	475	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	CACNG5_ENST00000169565.3_Missense_Mutation_p.P80S|CACNG5_ENST00000307139.3_Missense_Mutation_p.P80S			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	80					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)	p.P80S(2)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			ATATGTGATGCCCATGAACAC	0.527																																							uc010wqi.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(238-240)CCC>TCC		voltage-dependent calcium channel gamma-5							132.0	113.0	119.0					17																	64875131		2203	4300	6503	SO:0001583	missense	27091				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	g.chr17:64875131C>T	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.238C>T	17.37:g.64875131C>T	ENSP00000436836:p.Pro80Ser					CACNG5_uc002jfr.2_Missense_Mutation_p.P80S|CACNG5_uc010wqj.1_Missense_Mutation_p.P80S	p.P80S	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.61e-08)		3	475	+			80					A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	c.238C>T	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.593149	0.86953	.	.	ENSG00000075429	ENST00000533854;ENST00000307139;ENST00000169565	D;D;D	0.87491	-2.26;-2.26;-2.26	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.90758	0.7099	L	0.47716	1.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.90706	0.4624	10	0.49607	T	0.09	-43.9668	15.3224	0.74132	0.0:1.0:0.0:0.0	.	80	Q9UF02	CCG5_HUMAN	S	80	ENSP00000436836:P80S;ENSP00000303092:P80S;ENSP00000169565:P80S	ENSP00000169565:P80S	P	+	1	0	CACNG5	62305593	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.998000	0.76277	2.465000	0.83290	0.655000	0.94253	CCC		0.527	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811		26	84	0	0	0	0.010818	0	26	84				
HELZ	9931	broad.mit.edu	37	17	65197255	65197255	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:65197255G>C	ENST00000358691.5	-	7	585	c.419C>G	c.(418-420)tCa>tGa	p.S140*	HELZ_ENST00000580662.1_5'UTR|HELZ_ENST00000580168.1_Nonsense_Mutation_p.S140*	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	140						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S140*(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTCTGTTTCTGAGAGAAGTGT	0.343											OREG0024677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc010wqk.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(418-420)TCA>TGA		helicase with zinc finger domain							171.0	161.0	164.0					17																	65197255		1869	4093	5962	SO:0001587	stop_gained	9931							g.chr17:65197255G>C	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.419C>G	17.37:g.65197255G>C	ENSP00000351524:p.Ser140*		OREG0024677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1082	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Nonsense_Mutation_p.S140*|HELZ_uc010des.1_Nonsense_Mutation_p.S140*	p.S140*	NM_014877	NP_055692					7	606	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Nonsense_Mutation	SNP	ENST00000358691.5	37	c.419C>G	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686712	0.88639	.	.	ENSG00000198265	ENST00000358691;ENST00000417253	.	.	.	5.61	2.53	0.30540	.	0.410647	0.27881	N	0.017480	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-0.7066	5.0711	0.14608	0.2305:0.0:0.6228:0.1468	.	.	.	.	X	140	.	ENSP00000351524:S140X	S	-	2	0	HELZ	62627717	1.000000	0.71417	0.998000	0.56505	0.834000	0.47266	1.909000	0.39917	0.316000	0.23135	0.655000	0.94253	TCA		0.343	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		5	153	0	0	0	0.001168	0	5	153				
BPTF	2186	broad.mit.edu	37	17	65822303	65822303	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:65822303A>G	ENST00000321892.4	+	1	524	c.463A>G	c.(463-465)Acc>Gcc	p.T155A	BPTF_ENST00000335221.5_Missense_Mutation_p.T155A|BPTF_ENST00000306378.6_Missense_Mutation_p.T155A|BPTF_ENST00000424123.3_Missense_Mutation_p.T16A			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	155	Asp-rich.|Glu-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T155A(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CGCCGAGGAGACCCAGGATTC	0.587																																							uc002jgf.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(463-465)ACC>GCC		bromodomain PHD finger transcription factor							68.0	63.0	65.0					17																	65822303		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65822303A>G	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.463A>G	17.37:g.65822303A>G	ENSP00000315454:p.Thr155Ala					BPTF_uc002jge.2_Missense_Mutation_p.T155A|BPTF_uc010wqm.1_Missense_Mutation_p.T155A	p.T155A	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		1	524	+	all_cancers(12;6e-11)		155			Glu-rich.|Asp-rich.		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.463A>G		.	.	.	.	.	.	.	.	.	.	A	9.652	1.141743	0.21205	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.80994	-1.44;-1.44;-1.44	2.25	1.1	0.20463	.	.	.	.	.	T	0.63271	0.2497	N	0.22421	0.69	0.22827	N	0.998685	B;B;B	0.20780	0.028;0.026;0.048	B;B;B	0.17098	0.007;0.017;0.017	T	0.46965	-0.9153	9	0.27082	T	0.32	.	4.0392	0.09743	0.6693:0.2096:0.1211:0.0	.	155;155;155	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	A	60;155;155;155;16	ENSP00000307208:T155A;ENSP00000334351:T155A;ENSP00000315454:T155A	ENSP00000307208:T155A	T	+	1	0	BPTF	63252765	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	1.664000	0.37439	0.139000	0.18822	0.248000	0.18094	ACC		0.587	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		3	38	0	0	0	0.009096	0	3	38				
ABCA8	10351	broad.mit.edu	37	17	66871472	66871472	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:66871472C>G	ENST00000269080.2	-	35	4577	c.4440G>C	c.(4438-4440)aaG>aaC	p.K1480N	ABCA8_ENST00000586539.1_Missense_Mutation_p.K1520N|ABCA8_ENST00000430352.2_Missense_Mutation_p.K1520N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1480					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.K1480N(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GTGCCAGGTTCTTCACCTTCA	0.488																																							uc002jhp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(4438-4440)AAG>AAC		ATP-binding cassette, sub-family A member 8							99.0	88.0	91.0					17																	66871472		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66871472C>G	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4440G>C	17.37:g.66871472C>G	ENSP00000269080:p.Lys1480Asn					ABCA8_uc002jhq.2_Missense_Mutation_p.K1520N|ABCA8_uc010wqq.1_Missense_Mutation_p.K1515N	p.K1480N	NM_007168	NP_009099	O94911	ABCA8_HUMAN			35	4619	-	Breast(10;4.56e-13)		1480					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.4440G>C	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304475	0.40795	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	T;T	0.57907	0.37;0.37	5.25	4.28	0.50868	.	0.124393	0.35555	N	0.003137	T	0.50701	0.1631	M	0.64567	1.98	0.42471	D	0.992824	P;B;P	0.44816	0.844;0.272;0.844	B;B;B	0.43478	0.323;0.249;0.421	T	0.52631	-0.8550	10	0.44086	T	0.13	.	9.4867	0.38933	0.0:0.8384:0.0:0.1616	.	1520;1520;1480	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	N	1480;1520	ENSP00000269080:K1480N;ENSP00000402814:K1520N	ENSP00000269080:K1480N	K	-	3	2	ABCA8	64383067	0.004000	0.15560	0.916000	0.36221	0.427000	0.31564	0.046000	0.14035	1.347000	0.45714	0.655000	0.94253	AAG		0.488	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		7	72	0	0	0	0.004482	0	7	72				
ABCA10	10349	broad.mit.edu	37	17	67189378	67189378	+	Silent	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:67189378T>C	ENST00000269081.4	-	16	2562	c.1653A>G	c.(1651-1653)ctA>ctG	p.L551L	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	551	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L551L(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTGGTTCATCTAGCAGCAAAA	0.443																																							uc010dfa.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1651-1653)CTA>CTG		ATP-binding cassette, sub-family A, member 10							114.0	101.0	105.0					17																	67189378		2203	4300	6503	SO:0001819	synonymous_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67189378T>C	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1653A>G	17.37:g.67189378T>C						ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Silent_p.L152L	p.L551L	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			16	2532	-	Breast(10;6.95e-12)		551			ABC transporter 1.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Silent	SNP	ENST00000269081.4	37	c.1653A>G	CCDS11684.1																																																																																				0.443	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		4	83	0	0	0	0.009096	0	4	83				
KCNJ16	3773	broad.mit.edu	37	17	68129006	68129006	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:68129006G>C	ENST00000589377.1	+	2	941	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	KCNJ16_ENST00000283936.1_Missense_Mutation_p.E260Q|KCNJ16_ENST00000585558.1_Missense_Mutation_p.E295Q|KCNJ16_ENST00000392671.1_Missense_Mutation_p.E260Q|KCNJ16_ENST00000392670.1_Missense_Mutation_p.E260Q|KCNJ16_ENST00000586462.1_Missense_Mutation_p.E299Q	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	260					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)	p.E260Q(1)|p.E260*(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AATTGACCATGAGAGCCCTCT	0.438																																							uc002jin.2		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(778-780)GAG>CAG		potassium inwardly-rectifying channel J16							135.0	127.0	130.0					17																	68129006		2203	4300	6503	SO:0001583	missense	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68129006G>C	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.778G>C	17.37:g.68129006G>C	ENSP00000465967:p.Glu260Gln					KCNJ16_uc002jio.2_Missense_Mutation_p.E260Q|KCNJ16_uc002jip.2_Missense_Mutation_p.E260Q|KCNJ16_uc002jiq.2_Missense_Mutation_p.E292Q	p.E260Q	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN			5	1264	+	Breast(10;2.96e-09)		260			Cytoplasmic (By similarity).			Missense_Mutation	SNP	ENST00000589377.1	37	c.778G>C	CCDS11687.1	.	.	.	.	.	.	.	.	.	.	G	9.579	1.123097	0.20959	.	.	ENSG00000153822	ENST00000283936;ENST00000392671;ENST00000392670	D;D;D	0.91740	-2.9;-2.9;-2.9	5.74	5.74	0.90152	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.198144	0.53938	D	0.000060	D	0.88840	0.6546	L	0.28400	0.85	0.44201	D	0.997026	P;B	0.36354	0.549;0.175	B;B	0.38985	0.287;0.16	D	0.86342	0.1705	9	.	.	.	.	19.5131	0.95153	0.0:0.0:1.0:0.0	.	260;260	A8K434;Q9NPI9	.;IRK16_HUMAN	Q	260	ENSP00000283936:E260Q;ENSP00000376439:E260Q;ENSP00000376438:E260Q	.	E	+	1	0	KCNJ16	65640601	1.000000	0.71417	0.960000	0.40013	0.019000	0.09904	3.820000	0.55693	2.706000	0.92434	0.650000	0.86243	GAG		0.438	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		11	227	0	0	0	0.008291	0	11	227				
RAB37	326624	broad.mit.edu	37	17	72739292	72739292	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:72739292C>T	ENST00000392613.5	+	4	327	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	RAB37_ENST00000392615.5_Missense_Mutation_p.R59W|RAB37_ENST00000340415.3_Missense_Mutation_p.R84W|RAB37_ENST00000528438.1_Missense_Mutation_p.R64W|RAB37_ENST00000392612.3_Missense_Mutation_p.R54W|RAB37_ENST00000402449.4_Missense_Mutation_p.R84W|RAB37_ENST00000392614.4_Missense_Mutation_p.R96W|RAB37_ENST00000392610.1_Missense_Mutation_p.R91W	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	91					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)	p.R84W(2)|p.R91W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						TGGGCAGGAACGGTTCCGAAG	0.597																																							uc002jlk.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(271-273)CGG>TGG		RAB37, member RAS oncogene family isoform 2							147.0	136.0	139.0					17																	72739292		2203	4300	6503	SO:0001583	missense	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72739292C>T	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.271C>T	17.37:g.72739292C>T	ENSP00000376389:p.Arg91Trp					RAB37_uc002jlc.2_Missense_Mutation_p.R84W|RAB37_uc010dfu.2_Missense_Mutation_p.R84W|RAB37_uc002jld.2_Missense_Mutation_p.R84W|RAB37_uc010wrb.1_Missense_Mutation_p.R59W|RAB37_uc010wrc.1_Missense_Mutation_p.R96W|RAB37_uc010wrd.1_Missense_Mutation_p.R59W|RAB37_uc010wre.1_Missense_Mutation_p.R54W|RAB37_uc002jll.3_RNA	p.R91W	NM_001006638	NP_001006639	Q96AX2	RAB37_HUMAN			4	327	+			91					A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	c.271C>T	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739891	0.69304	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000392617;ENST00000528438;ENST00000392615;ENST00000392614;ENST00000392613;ENST00000533530;ENST00000392612;ENST00000392610	T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.06	4.05	0.47172	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91771	0.7397	H	0.98005	4.125	0.58432	D	0.999997	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.998;0.999;1.0;0.999;0.999;0.999	D	0.93807	0.7106	10	0.87932	D	0	.	12.4238	0.55534	0.2859:0.7141:0.0:0.0	.	54;59;96;84;91;84;84	A8MXF5;A8MZI4;A8MYT0;Q96AX2-2;Q96AX2;A8MSP2;A8MUU7	.;.;.;.;RAB37_HUMAN;.;.	W	84;84;84;84;64;59;96;91;91;54;91	ENSP00000341354:R84W;ENSP00000383934:R84W;ENSP00000432086:R64W;ENSP00000376391:R59W;ENSP00000376390:R96W;ENSP00000376389:R91W;ENSP00000376388:R54W;ENSP00000376387:R91W	ENSP00000341354:R84W	R	+	1	2	RAB37	70250887	1.000000	0.71417	0.996000	0.52242	0.874000	0.50279	1.523000	0.35932	2.357000	0.79964	0.650000	0.86243	CGG		0.597	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		6	134	0	0	0	0.001168	0	6	134				
ARMC7	79637	broad.mit.edu	37	17	73106466	73106466	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:73106466A>T	ENST00000245543.1	+	1	385	c.83A>T	c.(82-84)cAa>cTa	p.Q28L	ARMC7_ENST00000584947.1_Missense_Mutation_p.Q28L|ARMC7_ENST00000581078.1_Missense_Mutation_p.Q28L|ARMC7_ENST00000582136.1_Missense_Mutation_p.Q28L	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	28						cytoplasm (GO:0005737)		p.Q28L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CAGGAGACCCAAAGCCAAGGT	0.677																																							uc002jmw.1		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(82-84)CAA>CTA		armadillo repeat containing 7							50.0	51.0	51.0					17																	73106466		2203	4300	6503	SO:0001583	missense	79637						binding	g.chr17:73106466A>T	AK025813	CCDS11714.1	17q25	2013-02-14				ENSG00000125449		"""Armadillo repeat containing"""	26168	protein-coding gene	gene with protein product						12477932	Standard	NM_024585		Approved	FLJ22160	uc002jmw.1	Q9H6L4		ENST00000245543.1:c.83A>T	17.37:g.73106466A>T	ENSP00000245543:p.Gln28Leu					ARMC7_uc002jmv.1_Missense_Mutation_p.Q28L|ARMC7_uc010wru.1_Missense_Mutation_p.Q28L	p.Q28L	NM_024585	NP_078861	Q9H6L4	ARMC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		1	385	+	all_lung(278;0.14)|Lung NSC(278;0.168)		28					B4DVA4	Missense_Mutation	SNP	ENST00000245543.1	37	c.83A>T	CCDS11714.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.814110	0.50527	.	.	ENSG00000125449	ENST00000245543	T	0.51817	0.69	5.85	3.4	0.38934	Armadillo-like helical (1);Armadillo-type fold (1);	0.328259	0.31612	N	0.007355	T	0.28267	0.0698	N	0.08118	0	0.24330	N	0.995009	B;B	0.21905	0.02;0.062	B;B	0.18871	0.023;0.021	T	0.19910	-1.0291	10	0.42905	T	0.14	.	13.7673	0.63004	0.7469:0.253:0.0:0.0	.	28;28	B4DVA4;Q9H6L4	.;ARMC7_HUMAN	L	28	ENSP00000245543:Q28L	ENSP00000245543:Q28L	Q	+	2	0	ARMC7	70618061	1.000000	0.71417	0.757000	0.31301	0.921000	0.55340	4.380000	0.59581	0.997000	0.38969	0.533000	0.62120	CAA		0.677	ARMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445846.1	NM_024585		13	63	0	0	0	0.00245	0	13	63				
GGA3	23163	broad.mit.edu	37	17	73238543	73238543	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:73238543C>T	ENST00000245541.6	-	8	837	c.621G>A	c.(619-621)cgG>cgA	p.R207R	GGA3_ENST00000578348.1_Silent_p.R85R|GGA3_ENST00000582717.1_Silent_p.R135R|GGA3_ENST00000351904.7_Silent_p.R174R|GGA3_ENST00000582486.1_Silent_p.R135R|GGA3_ENST00000579743.1_5'Flank|GGA3_ENST00000537686.1_3'UTR|GGA3_ENST00000538886.1_Silent_p.R85R	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	207	Binds to ARF1 (in long isoform).|GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)	p.R207R(1)		breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CCTTCTGGATCCGTGCCTCGT	0.512																																							uc002jni.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(619-621)CGG>CGA		ADP-ribosylation factor binding protein 3							260.0	212.0	228.0					17																	73238543		2203	4300	6503	SO:0001819	synonymous_variant	23163				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	g.chr17:73238543C>T	AF190864	CCDS11716.1, CCDS11717.1, CCDS54164.1, CCDS58597.1	17q25	2010-02-12	2010-02-12			ENSG00000125447			17079	protein-coding gene	gene with protein product		606006				10747089, 10749927	Standard	NR_033345		Approved	KIAA0154	uc002jni.2	Q9NZ52		ENST00000245541.6:c.621G>A	17.37:g.73238543C>T						GGA3_uc002jnj.1_Silent_p.R174R|GGA3_uc010wrw.1_Silent_p.R85R|GGA3_uc002jnk.1_Silent_p.R135R|GGA3_uc010wrx.1_Silent_p.R85R|GGA3_uc010wry.1_Silent_p.R135R|GGA3_uc010wrz.1_3'UTR	p.R207R	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)		8	630	-			207			GAT.|Binds to ARF1 (in long isoform).		B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3	Silent	SNP	ENST00000245541.6	37	c.621G>A	CCDS11717.1																																																																																				0.512	GGA3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446645.1	NM_138619		19	189	0	0	0	0.006122	0	19	189				
RECQL5	9400	broad.mit.edu	37	17	73627074	73627074	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:73627074A>T	ENST00000317905.5	-	11	1724	c.1565T>A	c.(1564-1566)aTa>aAa	p.I522K	RECQL5_ENST00000423245.2_Missense_Mutation_p.I495K|SMIM5_ENST00000375215.3_5'Flank|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	522	Interaction with POLR2A.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.I495K(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAATTCTTCTATCTTGGGGTC	0.592								Other identified genes with known or suspected DNA repair function																															uc010dgl.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(3)	3						c.(1564-1566)ATA>AAA	Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like 5 isoform 1							38.0	42.0	41.0					17																	73627074		1868	4114	5982	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73627074A>T	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1565T>A	17.37:g.73627074A>T	ENSP00000317636:p.Ile522Lys					RECQL5_uc010dgk.2_Missense_Mutation_p.I495K|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	p.I522K	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		11	1721	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		522					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.1565T>A	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	A	10.22	1.289809	0.23478	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T	0.53640	0.61	4.9	-9.8	0.00490	.	1.448500	0.03759	N	0.257791	T	0.21509	0.0518	N	0.05124	-0.11	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.39820	-0.9595	10	0.06099	T	0.92	11.4573	14.2242	0.65848	0.2544:0.0:0.6427:0.1029	.	522;495	O94762;Q6P4G0	RECQ5_HUMAN;.	K	117;522;522	ENSP00000317636:I522K	ENSP00000317636:I522K	I	-	2	0	RECQL5	71138669	0.000000	0.05858	0.002000	0.10522	0.818000	0.46254	-1.974000	0.01499	-2.299000	0.00659	-0.371000	0.07208	ATA		0.592	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		12	40	0	0	0	0.010729	0	12	40				
RECQL5	9400	broad.mit.edu	37	17	73663513	73663513	+	5'Flank	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:73663513G>C	ENST00000317905.5	-	0	0				SAP30BP_ENST00000579864.1_3'UTR|RECQL5_ENST00000423245.2_5'Flank|RECQL5_ENST00000420326.2_5'Flank|SAP30BP_ENST00000584667.1_Missense_Mutation_p.E21Q|SAP30BP_ENST00000355423.3_Missense_Mutation_p.E21Q|RECQL5_ENST00000340830.5_5'Flank|RECQL5_ENST00000584999.1_5'Flank	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.E21Q(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TTCAGAGCCCGAGTCTGATGG	0.607								Other identified genes with known or suspected DNA repair function																															uc002jpe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(61-63)GAG>CAG		transcriptional regulator protein							64.0	64.0	64.0					17																	73663513		2203	4300	6503	SO:0001631	upstream_gene_variant	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73663513G>C	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762			17.37:g.73663513G>C	Exception_encountered					RECQL5_uc010dgk.2_5'Flank|RECQL5_uc010dgl.2_5'Flank|RECQL5_uc002jpb.1_5'Flank|RECQL5_uc002joz.3_5'Flank|RECQL5_uc002jpa.3_5'Flank|SAP30BP_uc010dgm.1_Missense_Mutation_p.E21Q|SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Missense_Mutation_p.E21Q	p.E21Q	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		1	115	+	all_cancers(13;6.42e-08)		21					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.61G>C	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241768	0.58995	.	.	ENSG00000161526	ENST00000355423;ENST00000542343;ENST00000293208	.	.	.	5.4	5.4	0.78164	.	0.044870	0.85682	D	0.000000	T	0.76205	0.3955	L	0.50333	1.59	0.52501	D	0.999959	D;B;B	0.89917	1.0;0.19;0.06	D;B;B	0.91635	0.999;0.066;0.024	T	0.77308	-0.2636	9	0.62326	D	0.03	-4.3669	19.1854	0.93641	0.0:0.0:1.0:0.0	.	21;21;21	F5H478;Q9UHR5-2;Q9UHR5	.;.;S30BP_HUMAN	Q	21	.	ENSP00000293208:E21Q	E	+	1	0	SAP30BP	71175108	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.053000	0.71089	2.509000	0.84616	0.650000	0.86243	GAG		0.607	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		6	74	0	0	0	0.00308	0	6	74				
WBP2	23558	broad.mit.edu	37	17	73851355	73851355	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:73851355C>T	ENST00000591399.1	-	2	448	c.24G>A	c.(22-24)tcG>tcA	p.S8S	WBP2_ENST00000590221.1_Silent_p.S8S|WBP2_ENST00000254806.3_Silent_p.S8S|WBP2_ENST00000433525.2_Silent_p.S8S|WBP2_ENST00000585462.1_5'UTR|WBP2_ENST00000344296.4_5'UTR|WBP2_ENST00000590450.1_5'UTR			Q969T9	WBP2_HUMAN	WW domain binding protein 2	8	GRAM.				cellular response to estrogen stimulus (GO:0071391)|establishment of protein localization (GO:0045184)|positive regulation of gene expression, epigenetic (GO:0045815)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)	p.S8S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCCGCCCTCCGAGTGATTCT	0.592																																							uc002jps.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(22-24)TCG>TCA		WW domain binding protein 2							152.0	153.0	153.0					17																	73851355		2203	4300	6503	SO:0001819	synonymous_variant	23558						protein binding	g.chr17:73851355C>T	U79458	CCDS11731.1	17q25	2008-02-01				ENSG00000132471			12738	protein-coding gene	gene with protein product		606962				7644498	Standard	NM_012478		Approved	WBP-2	uc002jps.3	Q969T9		ENST00000591399.1:c.24G>A	17.37:g.73851355C>T						WBP2_uc002jpr.2_5'UTR|WBP2_uc010wsl.1_5'UTR|WBP2_uc002jpt.2_Silent_p.S8S|WBP2_uc002jpu.1_RNA|WBP2_uc010wsm.1_Silent_p.S8S|WBP2_uc010wsn.1_Silent_p.S8S	p.S8S	NM_012478	NP_036610	Q969T9	WBP2_HUMAN	all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		1	147	-			8			GRAM.		O95638	Silent	SNP	ENST00000591399.1	37	c.24G>A	CCDS11731.1																																																																																				0.592	WBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448862.1	NM_012478		23	240	0	0	0	0.00333	0	23	240				
SMCHD1	23347	broad.mit.edu	37	18	2674057	2674057	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:2674057A>G	ENST00000320876.6	+	5	889	c.551A>G	c.(550-552)gAt>gGt	p.D184G	SMCHD1_ENST00000261598.8_Missense_Mutation_p.D184G	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	184					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.D184G(6)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GCAGTGATAGATAATGGAAGA	0.353																																							uc002klm.3		NA																	6	Substitution - Missense(6)		haematopoietic_and_lymphoid_tissue(3)|lung(3)		0						c.(550-552)GAT>GGT		structural maintenance of chromosomes flexible							77.0	69.0	72.0					18																	2674057		1845	4089	5934	SO:0001583	missense	23347				chromosome organization		ATP binding	g.chr18:2674057A>G	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.551A>G	18.37:g.2674057A>G	ENSP00000326603:p.Asp184Gly						p.D184G	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN			5	740	+			184					O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	ENST00000320876.6	37	c.551A>G	CCDS45822.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.606473	0.87157	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	D;D	0.99795	-6.78;-6.78	5.42	5.42	0.78866	ATPase-like, ATP-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.92219	3.285	0.45161	D	0.998174	D	0.89917	1.0	D	0.91635	0.999	D	0.96753	0.9555	10	0.87932	D	0	.	15.4738	0.75461	1.0:0.0:0.0:0.0	.	184	A6NHR9	SMHD1_HUMAN	G	184	ENSP00000326603:D184G;ENSP00000261598:D184G	ENSP00000261598:D184G	D	+	2	0	SMCHD1	2664057	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.548000	0.90669	2.062000	0.61559	0.460000	0.39030	GAT		0.353	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2			3	21	0	0	0	0.004672	0	3	21				
LPIN2	9663	broad.mit.edu	37	18	2922155	2922155	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:2922155G>T	ENST00000261596.4	-	17	2455	c.2217C>A	c.(2215-2217)ggC>ggA	p.G739G	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	739	C-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)	p.G739G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TGTCGGCCATGCCGATGGCAC	0.552																																							uc002klo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(2215-2217)GGC>GGA		lipin 2							40.0	44.0	43.0					18																	2922155		2203	4300	6503	SO:0001819	synonymous_variant	9663				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity	g.chr18:2922155G>T	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.2217C>A	18.37:g.2922155G>T							p.G739G	NM_014646	NP_055461	Q92539	LPIN2_HUMAN		READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)	17	2456	-			739			C-LIP.		A7MD25|D3DUH3	Silent	SNP	ENST00000261596.4	37	c.2217C>A	CCDS11829.1																																																																																				0.552	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646		10	41	1	0	9.70103e-10	0.008291	1.3817e-09	10	41				
ARHGAP28	79822	broad.mit.edu	37	18	6882188	6882188	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:6882188A>G	ENST00000383472.4	+	11	1447	c.1343A>G	c.(1342-1344)gAc>gGc	p.D448G	ARHGAP28_ENST00000419673.2_Missense_Mutation_p.D289G|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.D448G|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.D289G|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.D271G|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.D396G|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.D289G|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.D284G			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	448	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)	p.D289G(1)|p.D448G(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TTTAAATGGGACAAAATGTGC	0.393																																							uc010wzi.1		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(811-813)GAC>GGC		SubName: Full=Putative uncharacterized protein ARHGAP28;							170.0	163.0	165.0					18																	6882188		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6882188A>G	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1343A>G	18.37:g.6882188A>G	ENSP00000372964:p.Asp448Gly					ARHGAP28_uc002knc.2_Missense_Mutation_p.D396G|ARHGAP28_uc002knd.2_Missense_Mutation_p.D289G|ARHGAP28_uc002kne.2_Missense_Mutation_p.D289G|ARHGAP28_uc002knf.2_Missense_Mutation_p.D280G	p.D271G			B4DXL2	B4DXL2_HUMAN			10	1050	+		Colorectal(10;0.168)	271					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.812A>G		.	.	.	.	.	.	.	.	.	.	A	23.5	4.429071	0.83667	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;3.34	5.68	5.68	0.88126	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.406770	0.28653	N	0.014598	T	0.60457	0.2270	M	0.64404	1.975	0.48632	D	0.999681	P;D;D;P	0.59767	0.608;0.98;0.986;0.949	B;D;D;P	0.64321	0.42;0.924;0.913;0.697	T	0.61554	-0.7039	10	0.52906	T	0.07	.	15.9369	0.79717	1.0:0.0:0.0:0.0	.	448;280;289;396	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	G	448;396;289;284;289;289;280;271	ENSP00000382963:D448G;ENSP00000262227:D396G;ENSP00000392660:D289G;ENSP00000437262:D284G;ENSP00000313506:D289G;ENSP00000406907:D289G;ENSP00000372964:D271G	ENSP00000262227:D396G	D	+	2	0	ARHGAP28	6872188	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.783000	0.68982	2.172000	0.68678	0.533000	0.62120	GAC		0.393	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		4	86	0	0	0	0.000602	0	4	86				
LRRC30	339291	broad.mit.edu	37	18	7231306	7231306	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:7231306C>T	ENST00000383467.2	+	1	184	c.170C>T	c.(169-171)aCg>aTg	p.T57M		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	57								p.T57M(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AGCCTGGTCACGAGAGGAATG	0.602																																							uc010wzk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)	2						c.(169-171)ACG>ATG		leucine rich repeat containing 30							69.0	72.0	71.0					18																	7231306		1993	4171	6164	SO:0001583	missense	339291							g.chr18:7231306C>T		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.170C>T	18.37:g.7231306C>T	ENSP00000372959:p.Thr57Met						p.T57M	NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN			1	170	+			57						Missense_Mutation	SNP	ENST00000383467.2	37	c.170C>T	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879531	0.51801	.	.	ENSG00000206422	ENST00000383467	T	0.43294	0.95	5.65	5.65	0.86999	.	0.311760	0.36303	N	0.002675	T	0.23965	0.0580	N	0.19112	0.55	0.33816	D	0.628409	B	0.26363	0.147	B	0.15870	0.014	T	0.27297	-1.0078	10	0.25751	T	0.34	.	7.7181	0.28717	0.0:0.8074:0.0:0.1926	.	57	A6NM36	LRC30_HUMAN	M	57	ENSP00000372959:T57M	ENSP00000372959:T57M	T	+	2	0	LRRC30	7221306	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.623000	0.46435	2.827000	0.97445	0.650000	0.86243	ACG		0.602	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678		4	81	0	0	0	0.009096	0	4	81				
RAB31	11031	broad.mit.edu	37	18	9775294	9775294	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:9775294C>T	ENST00000578921.1	+	2	300	c.59C>T	c.(58-60)tCa>tTa	p.S20L		NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	19					cellular response to insulin stimulus (GO:0032869)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|receptor internalization (GO:0031623)|regulated secretory pathway (GO:0045055)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S20L(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						GTTGGGAAATCAAGCATCGTG	0.473																																							uc002kog.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(58-60)TCA>TTA		RAB31, member RAS oncogene family							200.0	193.0	195.0					18																	9775294		1992	4160	6152	SO:0001583	missense	11031				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr18:9775294C>T	U59877	CCDS45826.1	18p11.22	2014-03-18			ENSG00000168461	ENSG00000168461		"""RAB, member RAS oncogene"""	9771	protein-coding gene	gene with protein product		605694				8863739	Standard	NM_006868		Approved	Rab22B	uc002kog.2	Q13636	OTTHUMG00000178513	ENST00000578921.1:c.59C>T	18.37:g.9775294C>T	ENSP00000461945:p.Ser20Leu						p.S20L	NM_006868	NP_006859	Q13636	RAB31_HUMAN			2	234	+			19			GTP (By similarity).		B2RBT7|Q15770|Q9HC00	Missense_Mutation	SNP	ENST00000578921.1	37	c.59C>T	CCDS45826.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796788	0.90453	.	.	ENSG00000168461	ENST00000306096;ENST00000435762	.	.	.	4.52	4.52	0.55395	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	D	0.86990	0.6066	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91316	0.5078	8	.	.	.	-4.3857	16.3909	0.83537	0.0:1.0:0.0:0.0	.	19	Q13636	RAB31_HUMAN	L	20;11	.	.	S	+	2	0	RAB31	9765294	1.000000	0.71417	0.947000	0.38551	0.998000	0.95712	6.774000	0.75012	2.206000	0.71126	0.655000	0.94253	TCA		0.473	RAB31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442280.3			4	75	0	0	0	0.009096	0	4	75				
PIEZO2	63895	broad.mit.edu	37	18	10671680	10671680	+	Silent	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:10671680A>G	ENST00000503781.3	-	52	8102	c.8103T>C	c.(8101-8103)ctT>ctC	p.L2701L	PIEZO2_ENST00000580640.1_Silent_p.L2726L|PIEZO2_ENST00000302079.6_Silent_p.L2638L|PIEZO2_ENST00000285141.4_Silent_p.L493L|PIEZO2_ENST00000581680.1_5'Flank|PIEZO2_ENST00000538948.1_Silent_p.L658L	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2701					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)	p.L493L(1)|p.L2701L(1)									CCACATTTGGAAGCTCTTCAA	0.373																																							uc002kor.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1972-1974)CTT>CTC		family with sequence similarity 38, member B							75.0	76.0	76.0					18																	10671680		2203	4300	6503	SO:0001819	synonymous_variant	63895					integral to membrane	ion channel activity	g.chr18:10671680A>G	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.8103T>C	18.37:g.10671680A>G						FAM38B_uc002koq.2_Silent_p.L493L	p.L658L	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN			14	2114	-			2701					B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	ENST00000503781.3	37	c.1974T>C																																																																																					0.373	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442385.4	NM_022068		11	74	0	0	0	0.010729	0	11	74				
LAMA3	3909	broad.mit.edu	37	18	21441740	21441740	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:21441740G>T	ENST00000313654.9	+	35	4794	c.4553G>T	c.(4552-4554)tGg>tTg	p.W1518L	LAMA3_ENST00000399516.3_Missense_Mutation_p.W1518L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1518	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.W1518L(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGCGCGTCCTGGGTCGCACCC	0.582																																							uc002kuq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(4552-4554)TGG>TTG		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						33.0	38.0	37.0					18																	21441740		2021	4184	6205	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21441740G>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4553G>T	18.37:g.21441740G>T	ENSP00000324532:p.Trp1518Leu					LAMA3_uc002kur.2_Missense_Mutation_p.W1518L	p.W1518L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			35	4639	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1518			Laminin IV type A.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.4553G>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338684	0.81911	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.49139	0.79;0.79	5.63	5.63	0.86233	Laminin B type IV (2);Laminin B, subgroup (1);Growth factor, receptor (1);	.	.	.	.	T	0.75517	0.3860	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79212	-0.1896	9	0.62326	D	0.03	.	19.6978	0.96034	0.0:0.0:1.0:0.0	.	1518;1518	Q6VU67;Q16787	.;LAMA3_HUMAN	L	1518;1518;1516	ENSP00000324532:W1518L;ENSP00000382432:W1518L	ENSP00000324532:W1518L	W	+	2	0	LAMA3	19695738	1.000000	0.71417	0.999000	0.59377	0.439000	0.31926	9.118000	0.94355	2.649000	0.89929	0.650000	0.86243	TGG		0.582	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		5	17	1	0	0.000602214	0.000602	0.000659027	5	17				
IMPACT	55364	broad.mit.edu	37	18	22020507	22020507	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:22020507G>A	ENST00000284202.4	+	6	556	c.415G>A	c.(415-417)Gat>Aat	p.D139N	RP11-178F10.1_ENST00000579049.1_RNA	NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	139					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)		p.D139N(1)		endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					TGAATGTGAAGATGATCTCAT	0.363																																							uc002kvh.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(415-417)GAT>AAT		Impact homolog							159.0	147.0	151.0					18																	22020507		2203	4300	6503	SO:0001583	missense	55364							g.chr18:22020507G>A	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.415G>A	18.37:g.22020507G>A	ENSP00000284202:p.Asp139Asn					IMPACT_uc002kvg.3_Missense_Mutation_p.D121N	p.D139N	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN			6	527	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		139					A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	c.415G>A	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.585137	0.46110	.	.	ENSG00000154059	ENST00000284202	T	0.30981	1.51	5.29	5.29	0.74685	.	0.589755	0.18396	N	0.142490	T	0.30792	0.0776	L	0.55834	1.745	0.38703	D	0.95304	B	0.09022	0.002	B	0.06405	0.002	T	0.08889	-1.0700	10	0.29301	T	0.29	.	14.4107	0.67113	0.0:0.0:1.0:0.0	.	139	Q9P2X3	IMPCT_HUMAN	N	139	ENSP00000284202:D139N	ENSP00000284202:D139N	D	+	1	0	IMPACT	20274505	0.999000	0.42202	0.923000	0.36655	0.974000	0.67602	1.536000	0.36072	2.461000	0.83175	0.563000	0.77884	GAT		0.363	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1	NM_018439		25	88	0	0	0	0.005443	0	25	88				
ZNF521	25925	broad.mit.edu	37	18	22806338	22806338	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:22806338C>A	ENST00000361524.3	-	4	1692	c.1544G>T	c.(1543-1545)tGt>tTt	p.C515F	ZNF521_ENST00000538137.2_Missense_Mutation_p.C515F|ZNF521_ENST00000584787.1_Missense_Mutation_p.C295F|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	515					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.C515F(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCAATGGGGACAAAAGAATGC	0.463			T	PAX5	ALL																																		uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(1543-1545)TGT>TTT		zinc finger protein 521							78.0	82.0	81.0					18																	22806338		2203	4300	6503	SO:0001583	missense	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22806338C>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1544G>T	18.37:g.22806338C>A	ENSP00000354794:p.Cys515Phe					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.C515F|ZNF521_uc002kvl.2_Missense_Mutation_p.C295F	p.C515F	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	1791	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		515			C2H2-type 12.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	37	c.1544G>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	9.735	1.163436	0.21538	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.58940	0.3;0.3	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.69771	0.3148	L	0.34521	1.04	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.71290	-0.4637	10	0.87932	D	0	-14.9151	20.2227	0.98327	0.0:1.0:0.0:0.0	.	515	Q96K83	ZN521_HUMAN	F	515;549;515	ENSP00000354794:C515F;ENSP00000382352:C515F	ENSP00000354794:C515F	C	-	2	0	ZNF521	21060336	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.778000	0.95560	0.650000	0.86243	TGT		0.463	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		36	76	1	0	6.90743e-12	0.003755	1.04664e-11	36	76				
TAF4B	6875	broad.mit.edu	37	18	23845200	23845200	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:23845200G>T	ENST00000269142.5	+	2	1408	c.410G>T	c.(409-411)aGa>aTa	p.R137I	RP11-25D3.1_ENST00000580975.1_RNA|TAF4B_ENST00000400466.2_Missense_Mutation_p.R137I|TAF4B_ENST00000578121.1_Missense_Mutation_p.R137I	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	137					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R137I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACTGTAACAAGAGCCGAGACC	0.383																																							uc002kvu.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)|skin(1)	3						c.(409-411)AGA>ATA		TAF4b RNA polymerase II, TATA box binding							130.0	128.0	129.0					18																	23845200		1920	4146	6066	SO:0001583	missense	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23845200G>T	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.410G>T	18.37:g.23845200G>T	ENSP00000269142:p.Arg137Ile					TAF4B_uc002kvs.3_RNA|TAF4B_uc002kvt.3_Missense_Mutation_p.R137I	p.R137I	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		2	899	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		137					Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	c.410G>T	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938012	0.34189	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.23950	1.88;1.91;1.88	5.06	4.17	0.49024	.	0.121666	0.56097	D	0.000022	T	0.22085	0.0532	L	0.43152	1.355	0.37576	D	0.919617	B;P	0.44578	0.258;0.838	B;B	0.41988	0.157;0.372	T	0.04678	-1.0934	10	0.38643	T	0.18	-16.7062	9.8015	0.40766	0.185:0.0:0.815:0.0	.	137;137	Q92750;A4PBF7	TAF4B_HUMAN;.	I	137	ENSP00000389365:R137I;ENSP00000269142:R137I;ENSP00000383314:R137I	ENSP00000269142:R137I	R	+	2	0	TAF4B	22099198	1.000000	0.71417	0.994000	0.49952	0.921000	0.55340	1.743000	0.38258	2.502000	0.84385	0.563000	0.77884	AGA		0.383	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		28	84	1	0	1.04121e-07	0.005443	1.38651e-07	28	84				
DSC1	1823	broad.mit.edu	37	18	28737517	28737517	+	Silent	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:28737517G>C	ENST00000257198.5	-	3	429	c.168C>G	c.(166-168)ctC>ctG	p.L56L	DSC1_ENST00000257197.3_Silent_p.L56L|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	56					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L56L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGGCCGACTTGAGACACTCCT	0.453																																							uc002kwn.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(1)	4						c.(166-168)CTC>CTG		desmocollin 1 isoform Dsc1a preproprotein							83.0	84.0	84.0					18																	28737517		2203	4300	6503	SO:0001819	synonymous_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28737517G>C	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.168C>G	18.37:g.28737517G>C						DSC1_uc002kwm.2_Silent_p.L56L	p.L56L	NM_024421	NP_077739	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		3	430	-			56					Q9HB01	Silent	SNP	ENST00000257198.5	37	c.168C>G	CCDS11894.1																																																																																				0.453	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		7	78	0	0	0	0.00308	0	7	78				
MRO	83876	broad.mit.edu	37	18	48331607	48331607	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:48331607C>T	ENST00000428869.2	-	6	604	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	MRO_ENST00000587291.1_5'UTR|MRO_ENST00000431965.2_Missense_Mutation_p.V130I|MRO_ENST00000588444.1_Missense_Mutation_p.V116I|MRO_ENST00000256425.2_Missense_Mutation_p.V116I|MRO_ENST00000398439.3_Missense_Mutation_p.V116I|MRO_ENST00000436348.2_Missense_Mutation_p.V130I			Q9BYG7	MSTRO_HUMAN	maestro	116						nucleolus (GO:0005730)		p.V116I(1)|p.V130I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CCCAGAACGACGGTCAGAGTC	0.433																																							uc002lew.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(346-348)GTC>ATC		maestro isoform a							123.0	108.0	113.0					18																	48331607		2203	4300	6503	SO:0001583	missense	83876					nucleolus	binding	g.chr18:48331607C>T	AK054702	CCDS11947.1, CCDS45867.1, CCDS45868.1, CCDS45869.1	18q21	2012-12-19	2004-06-15		ENSG00000134042	ENSG00000134042		"""maestro heat-like repeat containing"""	24121	protein-coding gene	gene with protein product	"""B29 protein"", ""beside the Ma29 deletion"""	608080	"""chromosome 18 open reading frame 3"""	C18orf3		11401430	Standard	NM_031939		Approved	B29, FLJ30140	uc010dpa.3	Q9BYG7	OTTHUMG00000132692	ENST00000428869.2:c.346G>A	18.37:g.48331607C>T	ENSP00000409509:p.Val116Ile					MRO_uc010xdn.1_Missense_Mutation_p.V116I|MRO_uc010dpa.2_Missense_Mutation_p.V130I|MRO_uc010dpb.2_Missense_Mutation_p.V130I|MRO_uc010dpc.2_Missense_Mutation_p.V116I|MRO_uc002lex.3_Missense_Mutation_p.V116I	p.V116I	NM_031939	NP_114145	Q9BYG7	MSTRO_HUMAN		Colorectal(21;0.082)	5	640	-		Colorectal(6;0.0596)	116					B7Z2I5|B7Z3B2|E9PAT5|E9PBI3|K7EKJ8|Q8N6K5	Missense_Mutation	SNP	ENST00000428869.2	37	c.346G>A	CCDS11947.1	.	.	.	.	.	.	.	.	.	.	c	9.372	1.070869	0.20147	.	.	ENSG00000134042	ENST00000436348;ENST00000431965;ENST00000428869;ENST00000398439;ENST00000256425	T;T;T;T;T	0.66280	-0.13;-0.2;1.45;1.45;1.45	5.71	-2.27	0.06846	Armadillo-like helical (1);Armadillo-type fold (1);	0.919778	0.09266	N	0.825770	T	0.30885	0.0779	N	0.01535	-0.81	0.09310	N	1	B;B;B;B	0.10296	0.003;0.003;0.003;0.001	B;B;B;B	0.09377	0.002;0.003;0.004;0.002	T	0.20438	-1.0275	10	0.33940	T	0.23	-22.3229	10.0508	0.42214	0.0:0.3829:0.0:0.6171	.	116;130;130;116	E9PFU2;E9PBI3;E9PAT5;Q9BYG7	.;.;.;MSTRO_HUMAN	I	130;130;116;116;116	ENSP00000397900:V130I;ENSP00000392614:V130I;ENSP00000409509:V116I;ENSP00000381465:V116I;ENSP00000256425:V116I	ENSP00000256425:V116I	V	-	1	0	MRO	46585605	0.526000	0.26298	0.995000	0.50966	0.207000	0.24258	-0.184000	0.09698	-0.113000	0.11958	-1.438000	0.01074	GTC		0.433	MRO-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449478.2	NM_031939		7	55	0	0	0	0.001984	0	7	55				
CDH20	28316	broad.mit.edu	37	18	59195204	59195204	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:59195204T>C	ENST00000262717.4	+	7	1420	c.1022T>C	c.(1021-1023)cTg>cCg	p.L341P	CDH20_ENST00000538374.1_Missense_Mutation_p.L341P|CDH20_ENST00000536675.2_Missense_Mutation_p.L341P			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	341	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L341P(1)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTTCAGCCCCTGAGTTTTGAA	0.443																																							uc010dps.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|pancreas(1)	5						c.(1021-1023)CTG>CCG		cadherin 20, type 2 preproprotein							63.0	61.0	62.0					18																	59195204		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59195204T>C	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1022T>C	18.37:g.59195204T>C	ENSP00000262717:p.Leu341Pro					CDH20_uc002lif.2_Missense_Mutation_p.L335P	p.L341P	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			6	1034	+		Colorectal(73;0.186)	341			Extracellular (Potential).|Cadherin 3.		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.1022T>C	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.332791	0.81801	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.75154	-0.91;-0.91;-0.91	5.92	5.92	0.95590	Cadherin (5);Cadherin-like (1);	0.078676	0.52532	D	0.000062	D	0.90157	0.6924	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.92761	0.6224	10	0.87932	D	0	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	341	Q9HBT6	CAD20_HUMAN	P	341	ENSP00000444767:L341P;ENSP00000442226:L341P;ENSP00000262717:L341P	ENSP00000262717:L341P	L	+	2	0	CDH20	57346184	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	7.673000	0.83973	2.255000	0.74692	0.533000	0.62120	CTG		0.443	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		17	29	0	0	0	0.006122	0	17	29				
PHLPP1	23239	broad.mit.edu	37	18	60506065	60506065	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:60506065G>T	ENST00000262719.5	+	3	2056	c.1822G>T	c.(1822-1824)Gga>Tga	p.G608*	PHLPP1_ENST00000400316.4_Nonsense_Mutation_p.G96*|AC015989.2_ENST00000593319.1_5'Flank|PHLPP1_ENST00000588953.1_3'UTR			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	608	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)	p.G608*(2)|p.G95*(1)		endometrium(2)|kidney(2)|lung(13)	17						TAGCTCCTCTGGACCCCAAAG	0.428																																							uc002lis.2		NA																	3	Substitution - Nonsense(3)		lung(3)		0						c.(286-288)GGA>TGA		PH domain and leucine rich repeat protein							135.0	132.0	133.0					18																	60506065		1888	4111	5999	SO:0001587	stop_gained	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60506065G>T	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.1822G>T	18.37:g.60506065G>T	ENSP00000262719:p.Gly608*						p.G96*	NM_194449	NP_919431	O60346	PHLP1_HUMAN			4	464	+			608			PH.		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Nonsense_Mutation	SNP	ENST00000262719.5	37	c.286G>T	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	G	52	19.117642	0.99915	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-12.9661	19.0744	0.93154	0.0:0.0:1.0:0.0	.	.	.	.	X	96;608	.	ENSP00000262719:G608X	G	+	1	0	PHLPP1	58657045	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.592000	0.98245	2.812000	0.96745	0.555000	0.69702	GGA		0.428	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		34	60	1	0	2.08457e-15	0.010818	3.38459e-15	34	60				
SERPINB3	6317	broad.mit.edu	37	18	61326698	61326698	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:61326698T>C	ENST00000283752.5	-	4	429	c.286A>G	c.(286-288)Act>Gct	p.T96A	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.T96A	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	96					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)	p.T96A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TATGCATCAGTGGATTTGTTG	0.383																																							uc002ljg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(286-288)ACT>GCT		SubName: Full=Squamous cell carcinoma antigen 2;							129.0	129.0	129.0					18																	61326698		2203	4298	6501	SO:0001583	missense	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61326698T>C	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.286A>G	18.37:g.61326698T>C	ENSP00000283752:p.Thr96Ala					SERPINB3_uc002lji.2_Missense_Mutation_p.T96A|SERPINB3_uc010dqa.2_Missense_Mutation_p.T96A|SERPINB3_uc010dqb.2_Missense_Mutation_p.T96A	p.T96A			P48594	SPB4_HUMAN			3	312	-			96					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.286A>G	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	T	9.303	1.053587	0.19907	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.82344	-1.6;-1.6	3.13	3.13	0.36017	Serpin domain (3);	0.504079	0.16679	N	0.204021	D	0.84202	0.5420	L	0.49778	1.585	0.09310	N	1	B;D;B;B	0.64830	0.019;0.994;0.019;0.019	B;P;B;B	0.62560	0.032;0.904;0.032;0.032	T	0.72334	-0.4325	10	0.40728	T	0.16	.	5.9049	0.18992	0.0:0.2157:0.0:0.7843	.	96;96;96;96	A8K847;P29508-2;P29508;Q5K684	.;.;SPB3_HUMAN;.	A	96	ENSP00000283752:T96A;ENSP00000329498:T96A	ENSP00000283752:T96A	T	-	1	0	SERPINB3	59477678	0.011000	0.17503	0.041000	0.18516	0.324000	0.28378	1.514000	0.35834	1.678000	0.50952	0.374000	0.22700	ACT		0.383	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		31	62	0	0	0	0.002836	0	31	62				
SERPINB2	5055	broad.mit.edu	37	18	61562575	61562575	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:61562575G>T	ENST00000299502.4	+	3	326	c.246G>T	c.(244-246)atG>atT	p.M82I	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000457692.1_Missense_Mutation_p.M82I	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	82					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.M82I(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	GTGGGTTCATGCAGCAGATCC	0.428																																							uc010xeu.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(244-246)ATG>ATT		serine (or cysteine) proteinase inhibitor, clade	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)						188.0	184.0	185.0					18																	61562575		2203	4300	6503	SO:0001583	missense	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61562575G>T	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.246G>T	18.37:g.61562575G>T	ENSP00000299502:p.Met82Ile					SERPINB2_uc002ljo.2_Missense_Mutation_p.M82I|SERPINB2_uc010dqh.2_Missense_Mutation_p.M12I|SERPINB2_uc002ljp.1_5'Flank|SERPINB2_uc002ljq.1_5'Flank	p.M82I	NM_001143818	NP_001137290	P05120	PAI2_HUMAN			4	579	+		Esophageal squamous(42;0.131)	82					Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	c.246G>T	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	G	7.356	0.623775	0.14193	.	.	ENSG00000197632	ENST00000404622;ENST00000299502;ENST00000457692;ENST00000413956;ENST00000443281	D;D;D;D;T	0.83755	-1.62;-1.76;-1.76;-1.58;-1.11	5.93	2.09	0.27110	Serpin domain (3);	433.424000	0.00654	U	0.000566	T	0.80768	0.4686	M	0.63428	1.95	0.20196	N	0.999922	B	0.27286	0.174	B	0.26202	0.067	T	0.55786	-0.8086	10	0.33940	T	0.23	.	4.9324	0.13923	0.2568:0.1536:0.5896:0.0	.	82	P05120	PAI2_HUMAN	I	82	ENSP00000385397:M82I;ENSP00000299502:M82I;ENSP00000401645:M82I;ENSP00000402386:M82I;ENSP00000397096:M82I	ENSP00000299502:M82I	M	+	3	0	SERPINB2	59713555	0.093000	0.21703	0.164000	0.22755	0.248000	0.25809	0.129000	0.15830	0.098000	0.17522	0.655000	0.94253	ATG		0.428	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		37	99	1	0	6.29468e-14	0.004878	9.92696e-14	37	99				
SALL3	27164	broad.mit.edu	37	18	76754668	76754668	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr18:76754668A>T	ENST00000537592.2	+	2	2677	c.2677A>T	c.(2677-2679)Agc>Tgc	p.S893C	SALL3_ENST00000575389.2_Missense_Mutation_p.S893C|SALL3_ENST00000536229.3_Missense_Mutation_p.S760C	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	893					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S893C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CAGCGCGGGCAGCCCCGCCCT	0.731																																							uc002lmt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2677-2679)AGC>TGC		sal-like 3							12.0	16.0	15.0					18																	76754668		2055	4065	6120	SO:0001583	missense	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76754668A>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2677A>T	18.37:g.76754668A>T	ENSP00000441823:p.Ser893Cys					SALL3_uc010dra.2_Missense_Mutation_p.S500C	p.S893C	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	2677	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	893					Q9UGH1	Missense_Mutation	SNP	ENST00000537592.2	37	c.2677A>T	CCDS12013.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.275490	0.40294	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.12569	2.67	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000002	T	0.42063	0.1186	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.972	T	0.44205	-0.9343	10	0.72032	D	0.01	-39.6821	15.624	0.76833	1.0:0.0:0.0:0.0	.	625;893	F5GXY4;Q9BXA9	.;SALL3_HUMAN	C	893;893;625	ENSP00000441823:S893C	ENSP00000299466:S893C	S	+	1	0	SALL3	74855656	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	9.032000	0.93736	2.090000	0.63153	0.459000	0.35465	AGC		0.731	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		4	19	0	0	0	0.000602	0	4	19				
UQCR11	10975	broad.mit.edu	37	19	1599507	1599507	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:1599507C>T	ENST00000591899.3	-	2	174	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	UQCR11_ENST00000585937.1_Missense_Mutation_p.A35T|UQCR11_ENST00000589880.1_Missense_Mutation_p.A35T|UQCR11_ENST00000585671.1_Missense_Mutation_p.A35T|UQCR11_ENST00000593029.1_5'UTR	NM_006830.3	NP_006821.1	O14957	QCR10_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit XI	35					cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	electron carrier activity (GO:0009055)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.A35T(1)		breast(1)|lung(2)|ovary(1)|prostate(1)	5						CAATCGGTGGCCCACACCAGC	0.572																																							uc002ltm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(103-105)GCC>ACC		ubiquinol-cytochrome c reductase, 6.4kDa							70.0	70.0	70.0					19																	1599507		2203	4300	6503	SO:0001583	missense	10975				respiratory electron transport chain	integral to membrane|mitochondrial inner membrane|respiratory chain	electron carrier activity	g.chr19:1599507C>T	D55636	CCDS12073.1	19p13.3	2011-07-04	2010-01-26	2010-01-26	ENSG00000127540	ENSG00000127540		"""Mitochondrial respiratory chain complex / Complex III"""	30862	protein-coding gene	gene with protein product	"""complex III subunit 10"""	609711	"""ubiquinol-cytochrome c reductase, 6.4kDa subunit"""	UQCR		9161705	Standard	NM_006830		Approved	QCR10	uc002ltm.3	O14957		ENST00000591899.3:c.103G>A	19.37:g.1599507C>T	ENSP00000467262:p.Ala35Thr						p.A35T	NM_006830	NP_006821	O14957	QCR10_HUMAN			2	126	-			35			Helical; (Potential).		B2R542|D6W5Z4|Q9UEA3|Q9UPK4	Missense_Mutation	SNP	ENST00000591899.3	37	c.103G>A	CCDS12073.1	.	.	.	.	.	.	.	.	.	.	C	9.711	1.156984	0.21454	.	.	ENSG00000127540	ENST00000262946	.	.	.	4.78	3.7	0.42460	.	0.635159	0.15356	N	0.266681	T	0.34454	0.0898	.	.	.	0.30812	N	0.738688	P	0.35468	0.503	B	0.37833	0.259	T	0.33701	-0.9858	8	0.40728	T	0.16	-16.1021	8.2812	0.31902	0.0:0.7938:0.0:0.2062	.	35	O14957	QCR10_HUMAN	T	35	.	ENSP00000262946:A35T	A	-	1	0	UQCR11	1550507	1.000000	0.71417	0.998000	0.56505	0.223000	0.24884	0.907000	0.28531	0.910000	0.36722	-0.345000	0.07892	GCC		0.572	UQCR11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449668.3	NM_006830		7	86	0	0	0	0.008291	0	7	86				
ZNF556	80032	broad.mit.edu	37	19	2873608	2873608	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:2873608C>A	ENST00000307635.2	+	2	205	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	AC006130.1_ENST00000579582.1_RNA|ZNF556_ENST00000586426.1_Missense_Mutation_p.L40M	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L40M(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		CTTCAAGCACCTGGCCTCAGT	0.458																																							uc002lwp.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(118-120)CTG>ATG		zinc finger protein 556							164.0	151.0	155.0					19																	2873608		2203	4300	6503	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2873608C>A	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.118C>A	19.37:g.2873608C>A	ENSP00000302603:p.Leu40Met					ZNF556_uc002lwq.2_Missense_Mutation_p.L40M	p.L40M	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	205	+			40			KRAB.		Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.118C>A	CCDS12097.1	.	.	.	.	.	.	.	.	.	.	C	5.782	0.328614	0.10956	.	.	ENSG00000172000	ENST00000307635	T	0.03772	3.81	2.55	-3.03	0.05429	Krueppel-associated box (4);	.	.	.	.	T	0.06371	0.0164	M	0.82323	2.585	0.09310	N	1	P	0.40211	0.707	B	0.35899	0.213	T	0.24119	-1.0169	9	0.72032	D	0.01	.	2.6454	0.04983	0.2203:0.3207:0.0:0.459	.	40	Q9HAH1	ZN556_HUMAN	M	40	ENSP00000302603:L40M	ENSP00000302603:L40M	L	+	1	2	ZNF556	2824608	0.000000	0.05858	0.307000	0.25127	0.055000	0.15305	-0.875000	0.04205	-0.082000	0.12640	-0.481000	0.04817	CTG		0.458	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967		16	64	1	0	1.67942e-08	0.006122	2.29792e-08	16	64				
PTPRS	5802	broad.mit.edu	37	19	5206810	5206810	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:5206810C>T	ENST00000587303.1	-	37	5921	c.5822G>A	c.(5821-5823)gGa>gAa	p.G1941E	PTPRS_ENST00000348075.2_Missense_Mutation_p.G1903E|PTPRS_ENST00000372412.4_Missense_Mutation_p.G1942E|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.G1921E|PTPRS_ENST00000353284.2_Missense_Mutation_p.G1494E|PTPRS_ENST00000592099.1_Missense_Mutation_p.G1494E|PTPRS_ENST00000588012.1_Missense_Mutation_p.G1903E|PTPRS_ENST00000357368.4_Missense_Mutation_p.G1941E			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1941					cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G1941E(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GTCAAAGCTTCCGAGGTACTC	0.632																																							uc002mbv.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(5821-5823)GGA>GAA		protein tyrosine phosphatase, receptor type,							148.0	126.0	133.0					19																	5206810		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5206810C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5822G>A	19.37:g.5206810C>T	ENSP00000467537:p.Gly1941Glu					PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Missense_Mutation_p.G1483E|PTPRS_uc002mbw.2_Missense_Mutation_p.G1903E|PTPRS_uc002mbx.2_Missense_Mutation_p.G1498E|PTPRS_uc002mby.2_Missense_Mutation_p.G1494E	p.G1941E	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	38	6056	-			1941			Cytoplasmic (Potential).		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.5822G>A	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216969	0.58452	.	.	ENSG00000105426	ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65	2.91	2.91	0.33838	Protein-tyrosine phosphatase, receptor/non-receptor type (1);	0.000000	0.64402	U	0.000005	T	0.17365	0.0417	N	0.05078	-0.115	0.80722	D	1	D;P;D;P;D	0.89917	0.976;0.856;1.0;0.821;1.0	P;B;D;B;D	0.97110	0.802;0.396;1.0;0.143;0.999	T	0.33727	-0.9857	10	0.87932	D	0	.	13.9299	0.63989	0.0:1.0:0.0:0.0	.	1523;1494;1498;1903;1941	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332	.;.;.;.;PTPRS_HUMAN	E	1942;1941;1941;1932;1921;1903;1523;1498;1494	ENSP00000361489:G1942E;ENSP00000349932:G1941E;ENSP00000262963:G1921E;ENSP00000269907:G1903E;ENSP00000327313:G1494E	ENSP00000262963:G1921E	G	-	2	0	PTPRS	5157810	1.000000	0.71417	0.943000	0.38184	0.985000	0.73830	7.044000	0.76578	1.482000	0.48325	0.471000	0.43371	GGA		0.632	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			8	60	0	0	0	0.00308	0	8	60				
PTPRS	5802	broad.mit.edu	37	19	5244311	5244311	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:5244311C>A	ENST00000587303.1	-	10	1270	c.1171G>T	c.(1171-1173)Ggc>Tgc	p.G391C	PTPRS_ENST00000348075.2_Missense_Mutation_p.G378C|PTPRS_ENST00000372412.4_Missense_Mutation_p.G392C|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.G387C|PTPRS_ENST00000353284.2_Missense_Mutation_p.G378C|PTPRS_ENST00000592099.1_Missense_Mutation_p.G378C|PTPRS_ENST00000588012.1_Missense_Mutation_p.G378C|PTPRS_ENST00000357368.4_Missense_Mutation_p.G391C			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	391	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G391C(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGGCTCAGGCCGCCGATGCTG	0.582																																							uc002mbv.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(1171-1173)GGC>TGC		protein tyrosine phosphatase, receptor type,							84.0	70.0	75.0					19																	5244311		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5244311C>A	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1171G>T	19.37:g.5244311C>A	ENSP00000467537:p.Gly391Cys					PTPRS_uc002mbu.1_Missense_Mutation_p.G378C|PTPRS_uc010xin.1_Missense_Mutation_p.G378C|PTPRS_uc002mbw.2_Missense_Mutation_p.G378C|PTPRS_uc002mbx.2_Missense_Mutation_p.G382C|PTPRS_uc002mby.2_Missense_Mutation_p.G378C	p.G391C	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	11	1405	-			391			Fibronectin type-III 1.|Extracellular (Potential).		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.1171G>T	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.329964	0.81690	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24	3.87	3.87	0.44632	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000003	T	0.81626	0.4862	M	0.93462	3.42	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	0.998;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.953;0.953;0.964;0.999;1.0;0.983	D	0.87631	0.2516	10	0.87932	D	0	.	16.0207	0.80486	0.0:1.0:0.0:0.0	.	391;378;382;378;391;404	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	C	404;392;391;391;391;387;378;391;382;378	ENSP00000361489:G392C;ENSP00000349932:G391C;ENSP00000262963:G387C;ENSP00000269907:G378C;ENSP00000327313:G378C	ENSP00000262963:G387C	G	-	1	0	PTPRS	5195311	1.000000	0.71417	0.982000	0.44146	0.934000	0.57294	7.545000	0.82128	2.018000	0.59344	0.561000	0.74099	GGC		0.582	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			3	43	1	0	0.00024832	0.009096	0.000277565	3	43				
EMR1	2015	broad.mit.edu	37	19	6921873	6921873	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:6921873C>T	ENST00000312053.4	+	14	1807	c.1770C>T	c.(1768-1770)atC>atT	p.I590I	EMR1_ENST00000381407.5_Silent_p.I449I|EMR1_ENST00000250572.8_Silent_p.I590I|EMR1_ENST00000450315.3_Silent_p.I413I|EMR1_ENST00000381404.4_Silent_p.I538I	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	590	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.|Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.I590I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TTGCCGTTATCATGGCGTCTG	0.458																																							uc002mfw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(1768-1770)ATC>ATT		egf-like module containing, mucin-like, hormone							166.0	140.0	149.0					19																	6921873		2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6921873C>T	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1770C>T	19.37:g.6921873C>T						EMR1_uc010dvc.2_Silent_p.I590I|EMR1_uc010dvb.2_Silent_p.I538I|EMR1_uc010xji.1_Silent_p.I449I|EMR1_uc010xjj.1_Silent_p.I413I	p.I590I	NM_001974	NP_001965	Q14246	EMR1_HUMAN			14	1808	+	all_hematologic(4;0.166)		590			GPS.|Extracellular (Potential).|Ser/Thr-rich.		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.1770C>T	CCDS12175.1																																																																																				0.458	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			6	78	0	0	0	0.001984	0	6	78				
MYO1F	4542	broad.mit.edu	37	19	8601438	8601438	+	Silent	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:8601438T>G	ENST00000338257.8	-	18	2110	c.1843A>C	c.(1843-1845)Agg>Cgg	p.R615R		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	615	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R615R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CTGCGCACCCTGATGTTCTCC	0.647																																							uc002mkg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1843-1845)AGG>CGG		myosin IF							51.0	61.0	57.0					19																	8601438		1992	4162	6154	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8601438T>G	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1843A>C	19.37:g.8601438T>G							p.R615R	NM_012335	NP_036467	O00160	MYO1F_HUMAN			18	1957	-			615			Myosin head-like.		Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.1843A>C	CCDS42494.1																																																																																				0.647	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			8	36	0	0	0	0.00308	0	8	36				
MUC16	94025	broad.mit.edu	37	19	9028316	9028316	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:9028316C>G	ENST00000397910.4	-	11	36679	c.36476G>C	c.(36475-36477)aGa>aCa	p.R12159T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12161	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.R12159T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTCGCTCTCTGTCCAGTCC	0.562																																							uc002mkp.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(36475-36477)AGA>ACA		mucin 16							183.0	184.0	184.0					19																	9028316		2085	4216	6301	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9028316C>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.36476G>C	19.37:g.9028316C>G	ENSP00000381008:p.Arg12159Thr						p.R12159T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			11	36680	-			12161			SEA 1.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.36476G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	C	2.209	-0.381106	0.05000	.	.	ENSG00000181143	ENST00000397910	T	0.35605	1.3	2.66	1.56	0.23342	.	.	.	.	.	T	0.52175	0.1718	M	0.78344	2.41	.	.	.	D	0.64830	0.994	D	0.62955	0.909	T	0.60924	-0.7166	8	0.87932	D	0	.	5.8873	0.18888	0.0:0.8441:0.0:0.1559	.	12159	B5ME49	.	T	12159	ENSP00000381008:R12159T	ENSP00000381008:R12159T	R	-	2	0	MUC16	8889316	0.908000	0.30866	0.076000	0.20297	0.262000	0.26303	2.009000	0.40903	0.632000	0.30432	0.467000	0.42956	AGA		0.562	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	149	0	0	0	0.009096	0	4	149				
MUC16	94025	broad.mit.edu	37	19	9049864	9049864	+	Silent	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:9049864A>G	ENST00000397910.4	-	5	31970	c.31767T>C	c.(31765-31767)tcT>tcC	p.S10589S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10591	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S10589S(1)|p.S6222S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCACTAGAAGAAACATCTA	0.458																																							uc002mkp.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(31765-31767)TCT>TCC		mucin 16							122.0	113.0	116.0					19																	9049864		1881	4114	5995	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9049864A>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.31767T>C	19.37:g.9049864A>G							p.S10589S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	31971	-			10591			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.31767T>C	CCDS54212.1																																																																																				0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		15	71	0	0	0	0.00245	0	15	71				
MUC16	94025	broad.mit.edu	37	19	9059267	9059267	+	Silent	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:9059267T>A	ENST00000397910.4	-	3	28382	c.28179A>T	c.(28177-28179)ccA>ccT	p.P9393P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9395	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.P9393P(1)|p.P5026P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGAGTTCCTGGCCAGGAGG	0.537																																							uc002mkp.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(28177-28179)CCA>CCT		mucin 16							124.0	122.0	123.0					19																	9059267		2004	4177	6181	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059267T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28179A>T	19.37:g.9059267T>A							p.P9393P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	28383	-			9395			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.28179A>T	CCDS54212.1																																																																																				0.537	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		30	111	0	0	0	0.007291	0	30	111				
ZNF136	7695	broad.mit.edu	37	19	12298356	12298356	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:12298356G>T	ENST00000343979.4	+	4	1303	c.1163G>T	c.(1162-1164)gGa>gTa	p.G388V	ZNF136_ENST00000398616.2_Missense_Mutation_p.G322V	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	388					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)|transcription corepressor activity (GO:0003714)	p.G388V(1)		NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AAACATACTGGAGAAGGACCT	0.393																																							uc002mti.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1162-1164)GGA>GTA		zinc finger protein 136							77.0	71.0	73.0					19																	12298356		2203	4300	6503	SO:0001583	missense	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12298356G>T	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.1163G>T	19.37:g.12298356G>T	ENSP00000344162:p.Gly388Val					ZNF136_uc010xmh.1_Missense_Mutation_p.G322V	p.G388V	NM_003437	NP_003428	P52737	ZN136_HUMAN			4	1263	+			388						Missense_Mutation	SNP	ENST00000343979.4	37	c.1163G>T	CCDS32916.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.720581	0.68959	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.23552	1.9;1.9	1.29	1.29	0.21616	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50990	0.1648	M	0.87269	2.87	0.54753	D	0.999987	D	0.89917	1.0	D	0.76575	0.988	T	0.57159	-0.7859	8	.	.	.	.	10.1549	0.42816	0.0:0.0:1.0:0.0	.	388	P52737	ZN136_HUMAN	V	388;322	ENSP00000344162:G388V;ENSP00000381617:G322V	.	G	+	2	0	ZNF136	12159356	0.999000	0.42202	0.006000	0.13384	0.695000	0.40330	4.408000	0.59761	1.007000	0.39238	0.655000	0.94253	GGA		0.393	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2	NM_003437		4	35	1	0	0.00024832	0.009096	0.000277565	4	35				
CC2D1A	54862	broad.mit.edu	37	19	14034556	14034556	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:14034556G>T	ENST00000318003.7	+	17	2113	c.1872G>T	c.(1870-1872)aaG>aaT	p.K624N	CC2D1A_ENST00000589606.1_Missense_Mutation_p.K624N	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	624					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)	p.K624N(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			ACATTCTGAAGCAAGCCTTCG	0.622																																							uc002mxo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1870-1872)AAG>AAT		coiled-coil and C2 domain containing 1A							76.0	83.0	81.0					19																	14034556		2018	4177	6195	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14034556G>T	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1872G>T	19.37:g.14034556G>T	ENSP00000313601:p.Lys624Asn					CC2D1A_uc002mxp.2_Missense_Mutation_p.K624N|CC2D1A_uc010dzh.2_Missense_Mutation_p.K193N|CC2D1A_uc002mxq.1_Missense_Mutation_p.K269N	p.K624N	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		17	2171	+			624					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.1872G>T	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.317301	0.60524	.	.	ENSG00000132024	ENST00000318003;ENST00000254346	T	0.50548	0.74	4.64	3.29	0.37713	.	0.056119	0.64402	D	0.000002	T	0.52468	0.1736	L	0.61218	1.895	0.43025	D	0.994583	B;P;D	0.53151	0.142;0.934;0.958	B;P;P	0.52386	0.09;0.642;0.697	T	0.53528	-0.8426	10	0.72032	D	0.01	-26.0672	7.721	0.28731	0.2547:0.0:0.7453:0.0	.	246;624;624	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	N	624;247	ENSP00000313601:K624N	ENSP00000254346:K247N	K	+	3	2	CC2D1A	13895556	1.000000	0.71417	0.997000	0.53966	0.884000	0.51177	2.570000	0.45981	0.618000	0.30179	0.555000	0.69702	AAG		0.622	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		11	45	1	0	0.000673444	0.008291	0.000734666	11	45				
CD97	976	broad.mit.edu	37	19	14513455	14513455	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:14513455G>T	ENST00000242786.5	+	12	1310	c.1230G>T	c.(1228-1230)ttG>ttT	p.L410F	CD97_ENST00000357355.3_Missense_Mutation_p.L361F|CD97_ENST00000358600.3_Missense_Mutation_p.L317F|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	410					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.L410F(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGACGACATTGCTGGCCAATG	0.572																																							uc002myl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1228-1230)TTG>TTT		CD97 antigen isoform 1 precursor							131.0	117.0	121.0					19																	14513455		2203	4300	6503	SO:0001583	missense	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14513455G>T		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1230G>T	19.37:g.14513455G>T	ENSP00000242786:p.Leu410Phe					CD97_uc002mym.2_Missense_Mutation_p.L361F|CD97_uc002myn.2_Missense_Mutation_p.L317F	p.L410F	NM_078481	NP_510966	P48960	CD97_HUMAN			12	1353	+			410			Extracellular (Potential).		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	ENST00000242786.5	37	c.1230G>T	CCDS32929.1	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638198	0.47153	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.74737	-0.87;-0.72;-0.35	5.12	5.12	0.69794	.	.	.	.	.	D	0.84419	0.5468	M	0.69823	2.125	0.33239	D	0.55694	D;D;P	0.89917	1.0;1.0;0.63	D;D;B	0.91635	0.999;0.999;0.334	D	0.87302	0.2306	9	0.40728	T	0.16	.	14.0515	0.64739	0.0:0.0:1.0:0.0	.	317;361;410	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	F	410;361;317;360	ENSP00000242786:L410F;ENSP00000349918:L361F;ENSP00000351413:L317F	ENSP00000242786:L410F	L	+	3	2	CD97	14374455	0.992000	0.36948	0.686000	0.30086	0.047000	0.14425	4.605000	0.61119	2.368000	0.80403	0.455000	0.32223	TTG		0.572	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		42	66	1	0	3.76604e-16	0.010771	6.19172e-16	42	66				
OR7A10	390892	broad.mit.edu	37	19	14952214	14952214	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:14952214T>A	ENST00000248058.1	-	1	475	c.476A>T	c.(475-477)cAa>cTa	p.Q159L		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q159L(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					CATTAAGCTTTGTAACATGGA	0.453																																							uc002mzx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(475-477)CAA>CTA		olfactory receptor, family 7, subfamily A,							78.0	75.0	76.0					19																	14952214		2203	4300	6503	SO:0001583	missense	390892				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14952214T>A		CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.476A>T	19.37:g.14952214T>A	ENSP00000248058:p.Gln159Leu						p.Q159L	NM_001005190	NP_001005190	O76100	OR7AA_HUMAN			1	476	-	Ovarian(108;0.203)		159			Helical; Name=4; (Potential).		Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	37	c.476A>T	CCDS32936.1	.	.	.	.	.	.	.	.	.	.	t	8.832	0.940197	0.18281	.	.	ENSG00000127515	ENST00000248058	T	0.00107	8.72	2.75	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.672540	0.12062	U	0.503033	T	0.00241	0.0007	L	0.33792	1.035	0.09310	N	1	D	0.59767	0.986	D	0.65443	0.935	T	0.57590	-0.7785	10	0.87932	D	0	.	6.0381	0.19718	0.0:0.0:0.2667:0.7333	.	159	O76100	OR7AA_HUMAN	L	159	ENSP00000248058:Q159L	ENSP00000248058:Q159L	Q	-	2	0	OR7A10	14813214	0.001000	0.12720	0.006000	0.13384	0.090000	0.18270	0.948000	0.29096	1.301000	0.44836	0.113000	0.15668	CAA		0.453	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190		29	69	0	0	0	0.009535	0	29	69				
CYP4F8	11283	broad.mit.edu	37	19	15734867	15734867	+	RNA	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:15734867G>T	ENST00000441682.2	+	0	1139							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.E359*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GGAGGTGCAAGAGCTTCTGAA	0.567																																							uc002nbi.2		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)	1						c.(1078-1080)GAG>TAG		cytochrome P450, family 4, subfamily F,							82.0	71.0	75.0					19																	15734867		2203	4300	6503			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15734867G>T	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15734867G>T						CYP4F8_uc010xoj.1_Nonsense_Mutation_p.E172*	p.E360*	NM_007253	NP_009184	P98187	CP4F8_HUMAN			11	1142	+			360						Nonsense_Mutation	SNP	ENST00000441682.2	37	c.1078G>T		.	.	.	.	.	.	.	.	.	.	.	38	6.638243	0.97726	.	.	ENSG00000186526	ENST00000441682;ENST00000325723;ENST00000443973	.	.	.	3.11	3.11	0.35812	.	0.140033	0.46145	U	0.000312	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	11.6886	0.51501	0.0:0.0:1.0:0.0	.	.	.	.	X	359;172;209	.	ENSP00000314398:E172X	E	+	1	0	CYP4F8	15595867	0.985000	0.35326	0.225000	0.23894	0.142000	0.21351	2.755000	0.47540	1.563000	0.49615	0.411000	0.27672	GAG		0.567	CYP4F8-201	KNOWN	basic	processed_transcript	processed_transcript		NM_007253		19	70	1	0	1.56452e-12	0.007413	2.39145e-12	19	70				
CYP4F12	66002	broad.mit.edu	37	19	15784533	15784533	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:15784533G>T	ENST00000550308.1	+	2	574	c.194G>T	c.(193-195)gGc>gTc	p.G65V	CYP4F12_ENST00000324632.10_Missense_Mutation_p.G65V	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	65					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.G65V(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GGTCACCTGGGCCTGGTGAGT	0.572																																							uc002nbl.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(193-195)GGC>GTC		cytochrome P450, family 4, subfamily F,							48.0	52.0	51.0					19																	15784533		2164	4271	6435	SO:0001583	missense	66002							g.chr19:15784533G>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.194G>T	19.37:g.15784533G>T	ENSP00000448998:p.Gly65Val					CYP4F12_uc010xoo.1_Missense_Mutation_p.G65V|CYP4F12_uc010xop.1_Missense_Mutation_p.G65V	p.G65V	NM_023944	NP_076433					2	255	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.194G>T	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	12.07	1.827189	0.32329	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.97620	-4.46;-4.46	2.99	0.793	0.18632	.	0.317898	0.19693	U	0.108235	D	0.95968	0.8687	L	0.37507	1.11	0.41181	D	0.986234	D;D;D	0.71674	0.998;0.998;0.983	D;D;D	0.79784	0.993;0.993;0.934	D	0.92572	0.6067	10	0.51188	T	0.08	.	3.6359	0.08148	0.1375:0.0:0.6178:0.2447	.	65;65;65	B4E2R2;B4E270;Q9HCS2	.;.;CP4FC_HUMAN	V	65	ENSP00000448998:G65V;ENSP00000321821:G65V	ENSP00000321821:G65V	G	+	2	0	CYP4F12	15645533	0.987000	0.35691	0.369000	0.25952	0.019000	0.09904	2.406000	0.44557	0.151000	0.19162	-0.325000	0.08501	GGC		0.572	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			7	90	1	0	8.12818e-05	0.001984	9.32508e-05	7	90				
OR10H4	126541	broad.mit.edu	37	19	16060501	16060501	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:16060501G>C	ENST00000322107.1	+	1	684	c.684G>C	c.(682-684)ttG>ttC	p.L228F		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L228F(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CTGCCATCTTGAGGATTCCCT	0.498																																							uc010xov.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(682-684)TTG>TTC		olfactory receptor, family 10, subfamily H,							216.0	197.0	203.0					19																	16060501		2203	4300	6503	SO:0001583	missense	126541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:16060501G>C	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.684G>C	19.37:g.16060501G>C	ENSP00000318834:p.Leu228Phe						p.L228F	NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN			1	684	+			228			Cytoplasmic (Potential).		Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	c.684G>C	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	g	6.738	0.504886	0.12822	.	.	ENSG00000176231	ENST00000322107	T	0.00296	8.24	1.55	-2.14	0.07123	GPCR, rhodopsin-like superfamily (1);	0.481200	0.15240	N	0.272910	T	0.00468	0.0015	M	0.80183	2.485	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.49952	-0.8884	10	0.66056	D	0.02	.	2.7709	0.05334	0.1761:0.0:0.3613:0.4626	.	228	Q8NGA5	O10H4_HUMAN	F	228	ENSP00000318834:L228F	ENSP00000318834:L228F	L	+	3	2	OR10H4	15921501	0.000000	0.05858	0.081000	0.20488	0.198000	0.23893	-0.433000	0.06948	-0.605000	0.05753	0.484000	0.47621	TTG		0.498	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			8	248	0	0	0	0.010729	0	8	248				
TMEM38A	79041	broad.mit.edu	37	19	16799110	16799110	+	Silent	SNP	G	G	A	rs142098397		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:16799110G>A	ENST00000187762.2	+	6	919	c.828G>A	c.(826-828)tcG>tcA	p.S276S		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	276						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.S276S(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTCAGCATTCGGCCATGCCCG	0.647																																							uc002nes.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(826-828)TCG>TCA		transmembrane protein 38A		G		0,4406		0,0,2203	58.0	61.0	60.0		828	-8.1	0.0	19	dbSNP_134	60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM38A	NM_024074.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		276/300	16799110	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79041					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity	g.chr19:16799110G>A	AK025981	CCDS12349.1	19p13.11	2013-05-23				ENSG00000072954			28462	protein-coding gene	gene with protein product		611235				17611541	Standard	NM_024074		Approved	MGC3169, TRIC-A	uc002nes.3	Q9H6F2		ENST00000187762.2:c.828G>A	19.37:g.16799110G>A							p.S276S	NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN			6	919	+			276			Cytoplasmic (Potential).		A8K9P9	Silent	SNP	ENST00000187762.2	37	c.828G>A	CCDS12349.1																																																																																				0.647	TMEM38A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462841.1	NM_024074		9	77	0	0	0	0.006214	0	9	77				
NWD1	284434	broad.mit.edu	37	19	16910855	16910855	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:16910855G>A	ENST00000552788.1	+	15	3618	c.3618G>A	c.(3616-3618)cgG>cgA	p.R1206R	NWD1_ENST00000523826.1_Silent_p.R1000R|NWD1_ENST00000524140.2_Silent_p.R1206R|NWD1_ENST00000339803.6_Silent_p.R1071R|NWD1_ENST00000549814.1_Silent_p.R1164R|NWD1_ENST00000379808.3_Silent_p.R1206R|CTD-2538G9.6_ENST00000601661.1_RNA			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1206							ATP binding (GO:0005524)	p.R1071R(1)|p.R1206R(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATAGGTCCCGGGTGCCTGCAC	0.582																																							uc002neu.3		NA																	2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)	7						c.(3616-3618)CGG>CGA		RecName: Full=NACHT and WD repeat domain-containing protein 1;							63.0	57.0	59.0					19																	16910855		2203	4300	6503	SO:0001819	synonymous_variant	284434						ATP binding	g.chr19:16910855G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3618G>A	19.37:g.16910855G>A						NWD1_uc002net.3_Silent_p.R1071R|NWD1_uc002nev.3_Silent_p.R1000R	p.R1206R			Q149M9	NWD1_HUMAN			17	4040	+			1206			WD 9.		C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37	c.3618G>A																																																																																					0.582	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		4	41	0	0	0	0.009096	0	4	41				
ABHD8	79575	broad.mit.edu	37	19	17411939	17411939	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:17411939C>G	ENST00000247706.3	-	2	726	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000594999.1_5'Flank	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	163							hydrolase activity (GO:0016787)	p.E163Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						ATGCGCTTCTCACAGTCAATA	0.667																																					Ovarian(156;1368 2543 15275 41187)	Ovarian(156;1368 2543 15275 41187)	uc002ngb.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(487-489)GAG>CAG		abhydrolase domain containing 8							63.0	67.0	65.0					19																	17411939		2202	4300	6502	SO:0001583	missense	79575						hydrolase activity	g.chr19:17411939C>G	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.487G>C	19.37:g.17411939C>G	ENSP00000247706:p.Glu163Gln						p.E163Q	NM_024527	NP_078803	Q96I13	ABHD8_HUMAN			2	727	-			163					Q9HAE9	Missense_Mutation	SNP	ENST00000247706.3	37	c.487G>C	CCDS12355.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548719	0.45383	.	.	ENSG00000127220	ENST00000247706;ENST00000544788	T	0.32515	1.45	5.33	3.22	0.36961	.	0.199149	0.48286	D	0.000193	T	0.14184	0.0343	N	0.17082	0.46	0.42359	D	0.992407	B	0.21381	0.055	B	0.18263	0.021	T	0.08617	-1.0713	10	0.13853	T	0.58	-37.4727	4.8105	0.13340	0.0:0.632:0.1796:0.1883	.	163	Q96I13	ABHD8_HUMAN	Q	163;109	ENSP00000247706:E163Q	ENSP00000247706:E163Q	E	-	1	0	ABHD8	17272939	0.997000	0.39634	0.984000	0.44739	0.994000	0.84299	1.119000	0.31258	1.255000	0.44051	0.561000	0.74099	GAG		0.667	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462937.1	NM_024527		4	101	0	0	0	0.000602	0	4	101				
YJEFN3	374887	broad.mit.edu	37	19	19645921	19645921	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:19645921G>T	ENST00000514277.4	+	4	435	c.397G>T	c.(397-399)Ggg>Tgg	p.G133W	YJEFN3_ENST00000436027.5_Missense_Mutation_p.G83W|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.G132W|YJEFN3_ENST00000608404.1_Missense_Mutation_p.G132W	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	133	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.							p.G133W(1)		NS(1)|breast(1)|lung(3)	5						CGGGGCAGTGGGGCTGGTCTG	0.627																																							uc010xqy.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(643-645)GGG>TGG		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						72.0	91.0	85.0					19																	19645921		2108	4223	6331	SO:0001583	missense	51079				apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm	ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr19:19645921G>T		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.397G>T	19.37:g.19645921G>T	ENSP00000426964:p.Gly133Trp					NDUFA13_uc010xqx.1_3'UTR|YJEFN3_uc002nmt.1_Missense_Mutation_p.G133W|YJEFN3_uc010ecf.1_Missense_Mutation_p.G83W|YJEFN3_uc002nmu.1_RNA	p.G215W	NM_015965	NP_057049	Q9P0J0	NDUAD_HUMAN			5	902	+			Error:Variant_position_missing_in_Q9P0J0_after_alignment					A6XGK9|Q4G1C0	Missense_Mutation	SNP	ENST00000514277.4	37	c.643G>T	CCDS42530.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.469722	0.84533	.	.	ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000258674	ENST00000553705;ENST00000397179;ENST00000436027;ENST00000514277;ENST00000510139;ENST00000555938	T;T;T	0.63417	-0.04;-0.04;-0.04	4.53	4.53	0.55603	YjeF-related protein, N-terminal (5);	0.000000	0.85682	D	0.000000	D	0.83737	0.5319	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88388	0.3006	10	0.87932	D	0	-11.7167	15.1555	0.72739	0.0:0.0:1.0:0.0	.	132;83;133	E7ENQ6;A6XGL0-2;A6XGL0	.;.;YJEN3_HUMAN	W	132;133;83;133;83;132	ENSP00000398520:G83W;ENSP00000426964:G133W;ENSP00000452549:G132W	ENSP00000389732:G132W	G	+	1	0	YJEFN3;CTC-260F20.3	19506921	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	8.965000	0.93393	2.263000	0.75096	0.650000	0.86243	GGG		0.627	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537		19	134	1	0	5.03518e-11	0.007413	7.4458e-11	19	134				
ZNF676	163223	broad.mit.edu	37	19	22364202	22364202	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:22364202G>A	ENST00000397121.2	-	3	634	c.317C>T	c.(316-318)aCa>aTa	p.T106I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T106I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTGTGTAGTTGTTAAACTCTG	0.323																																							uc002nqs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(316-318)ACA>ATA		zinc finger protein 676							140.0	131.0	134.0					19																	22364202		1989	4184	6173	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364202G>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.317C>T	19.37:g.22364202G>A	ENSP00000380310:p.Thr106Ile						p.T106I	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	635	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	106					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.317C>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.720818	0.00700	.	.	ENSG00000196109	ENST00000397121	T	0.07688	3.17	0.398	-0.797	0.10909	.	.	.	.	.	T	0.04318	0.0119	L	0.31752	0.955	0.09310	N	1	B	0.27351	0.176	B	0.27262	0.078	T	0.43734	-0.9373	9	0.05620	T	0.96	.	3.6404	0.08165	0.6472:0.0:0.3528:0.0	.	106	Q8N7Q3	ZN676_HUMAN	I	106	ENSP00000380310:T106I	ENSP00000380310:T106I	T	-	2	0	ZNF676	22156042	0.000000	0.05858	0.002000	0.10522	0.171000	0.22731	-0.862000	0.04263	-0.423000	0.07394	0.186000	0.17326	ACA		0.323	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		60	78	0	0	0	0.00361	0	60	78				
ZNF536	9745	broad.mit.edu	37	19	30934628	30934628	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:30934628G>T	ENST00000355537.3	+	2	306	c.159G>T	c.(157-159)cgG>cgT	p.R53R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	53					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.R53R(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCATCCCCGGCCCAACCCCG	0.667																																							uc002nsu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(157-159)CGG>CGT		zinc finger protein 536							53.0	56.0	55.0					19																	30934628		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934628G>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.159G>T	19.37:g.30934628G>T						ZNF536_uc010edd.1_Silent_p.R53R	p.R53R	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	297	+	Esophageal squamous(110;0.0834)		53					A2RU18	Silent	SNP	ENST00000355537.3	37	c.159G>T	CCDS32984.1																																																																																				0.667	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		13	75	1	0	1.5842e-08	0.001855	2.17619e-08	13	75				
ZNF536	9745	broad.mit.edu	37	19	30936268	30936268	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:30936268C>A	ENST00000355537.3	+	2	1946	c.1799C>A	c.(1798-1800)cCt>cAt	p.P600H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	600					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.P600H(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGCTCGACCCTTTAGAAAGC	0.527																																							uc002nsu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1798-1800)CCT>CAT		zinc finger protein 536							91.0	96.0	94.0					19																	30936268		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936268C>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.1799C>A	19.37:g.30936268C>A	ENSP00000347730:p.Pro600His					ZNF536_uc010edd.1_Missense_Mutation_p.P600H	p.P600H	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1937	+	Esophageal squamous(110;0.0834)		600					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1799C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	8.608	0.888388	0.17540	.	.	ENSG00000198597	ENST00000355537	T	0.42900	0.96	5.53	5.53	0.82687	.	0.236061	0.44285	D	0.000478	T	0.38746	0.1052	N	0.22421	0.69	0.41341	D	0.987305	D;D	0.63880	0.993;0.993	P;P	0.49999	0.628;0.628	T	0.33471	-0.9867	10	0.87932	D	0	-12.878	12.7636	0.57378	0.0:0.9248:0.0:0.0752	.	600;600	A7E228;O15090	.;ZN536_HUMAN	H	600	ENSP00000347730:P600H	ENSP00000347730:P600H	P	+	2	0	ZNF536	35628108	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	3.762000	0.55250	2.582000	0.87167	0.655000	0.94253	CCT		0.527	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		62	94	1	0	6.25564e-26	0.00361	1.09763e-25	62	94				
ZNF536	9745	broad.mit.edu	37	19	31040277	31040277	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:31040277C>A	ENST00000355537.3	+	4	3898	c.3751C>A	c.(3751-3753)Ccg>Acg	p.P1251T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1251					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.P1251T(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTGCCAAAGCCGGAGCGGGG	0.617																																							uc002nsu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(3751-3753)CCG>ACG		zinc finger protein 536							17.0	19.0	18.0					19																	31040277		2195	4291	6486	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040277C>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.3751C>A	19.37:g.31040277C>A	ENSP00000347730:p.Pro1251Thr					ZNF536_uc010edd.1_Missense_Mutation_p.P1251T	p.P1251T	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3889	+	Esophageal squamous(110;0.0834)		1251					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3751C>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	4.253	0.045929	0.08243	.	.	ENSG00000198597	ENST00000355537	T	0.08720	3.06	5.18	1.28	0.21552	.	0.294993	0.38111	N	0.001812	T	0.07818	0.0196	L	0.27053	0.805	0.43377	D	0.995475	B;B	0.16166	0.008;0.016	B;B	0.15052	0.004;0.012	T	0.24261	-1.0165	10	0.46703	T	0.11	-16.8751	18.2386	0.89958	0.0:0.745:0.255:0.0	.	1251;1251	A7E228;O15090	.;ZN536_HUMAN	T	1251	ENSP00000347730:P1251T	ENSP00000347730:P1251T	P	+	1	0	ZNF536	35732117	1.000000	0.71417	0.989000	0.46669	0.719000	0.41307	1.403000	0.34612	0.537000	0.28751	0.650000	0.86243	CCG		0.617	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		7	37	1	0	0.00307968	0.00308	0.00330101	7	37				
WDR62	284403	broad.mit.edu	37	19	36562587	36562587	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:36562587G>T	ENST00000270301.7	+	8	1012	c.1012G>T	c.(1012-1014)Ggg>Tgg	p.G338W	WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000401500.2_Missense_Mutation_p.G338W|WDR62_ENST00000388999.3_Missense_Mutation_p.G338W			O43379	WDR62_HUMAN	WD repeat domain 62	338					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.G338W(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACACTACCTTGGGGTAGACGT	0.617																																							uc002odc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1012-1014)GGG>TGG		WD repeat domain 62 isoform 2							56.0	50.0	52.0					19																	36562587		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36562587G>T	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1012G>T	19.37:g.36562587G>T	ENSP00000270301:p.Gly338Trp					WDR62_uc002odd.2_Missense_Mutation_p.G338W|WDR62_uc002odb.2_Missense_Mutation_p.G338W	p.G338W	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		8	1103	+	Esophageal squamous(110;0.162)		338					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.1012G>T	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318871	0.81469	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000378860;ENST00000270301;ENST00000427823	T;T;T;T	0.58940	0.55;0.3;0.45;0.47	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77974	0.4211	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.77096	-0.2714	10	0.45353	T	0.12	-42.3284	17.9158	0.88950	0.0:0.0:1.0:0.0	.	338;338;338	O43379-4;O43379;O43379-3	.;WDR62_HUMAN;.	W	338;338;338;338;360	ENSP00000384792:G338W;ENSP00000373651:G338W;ENSP00000368137:G338W;ENSP00000270301:G338W	ENSP00000270301:G338W	G	+	1	0	WDR62	41254427	1.000000	0.71417	0.937000	0.37676	0.858000	0.48976	7.272000	0.78516	2.832000	0.97577	0.655000	0.94253	GGG		0.617	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		6	58	1	0	8.12818e-05	0.001984	9.32508e-05	6	58				
ZNF260	339324	broad.mit.edu	37	19	37006026	37006026	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:37006026T>A	ENST00000523638.1	-	3	1236	c.115A>T	c.(115-117)Aag>Tag	p.K39*	ZNF260_ENST00000592282.1_Nonsense_Mutation_p.K39*|ZNF260_ENST00000588993.1_Nonsense_Mutation_p.K39*|ZNF260_ENST00000593142.1_Nonsense_Mutation_p.K39*	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	39					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)	p.K39*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					AGGTTTTGCTTCAGGCTAAAA	0.378																																							uc002oee.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(115-117)AAG>TAG		zinc finger protein 260							110.0	108.0	109.0					19																	37006026		2203	4300	6503	SO:0001587	stop_gained	339324				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37006026T>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.115A>T	19.37:g.37006026T>A	ENSP00000429803:p.Lys39*					ZNF260_uc002oed.1_Nonsense_Mutation_p.K36*|ZNF260_uc010eey.1_Nonsense_Mutation_p.K36*|ZNF260_uc002oef.1_Nonsense_Mutation_p.K36*	p.K39*	NM_001012756	NP_001012774	Q3ZCT1	ZN260_HUMAN			4	959	-	Esophageal squamous(110;0.162)		39			C2H2-type 1.		Q0VF43	Nonsense_Mutation	SNP	ENST00000523638.1	37	c.115A>T	CCDS33003.1	.	.	.	.	.	.	.	.	.	.	T	42	9.782743	0.99263	.	.	ENSG00000254004	ENST00000523638	.	.	.	4.05	-0.603	0.11630	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	3.03	0.06103	0.2982:0.2786:0.0:0.4232	.	.	.	.	X	39	.	ENSP00000429803:K39X	K	-	1	0	ZNF260	41697866	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.062000	0.14389	-0.316000	0.08690	-0.421000	0.06004	AAG		0.378	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756		13	118	0	0	0	0.001855	0	13	118				
ZNF829	374899	broad.mit.edu	37	19	37399297	37399297	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:37399297G>T	ENST00000391711.3	-	4	525	c.161C>A	c.(160-162)gCt>gAt	p.A54D	ZNF829_ENST00000520965.1_Missense_Mutation_p.A135D|ZNF345_ENST00000432005.2_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	54	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A54D(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATCTGATCAGCGTCCAGGCA	0.433																																							uc002ofa.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(160-162)GCT>GAT		zinc finger protein 829							120.0	122.0	121.0					19																	37399297		2166	4281	6447	SO:0001583	missense	374899				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37399297G>T	BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.161C>A	19.37:g.37399297G>T	ENSP00000429266:p.Ala54Asp					ZNF345_uc002oez.2_Intron|ZNF829_uc002ofb.2_Missense_Mutation_p.A54D	p.A54D	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	523	-	Esophageal squamous(110;0.183)		54			KRAB.		Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	c.161C>A	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483352	0.44147	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.01804	4.63	4.47	4.47	0.54385	Krueppel-associated box (4);	.	.	.	.	T	0.01489	0.0048	N	0.04260	-0.245	0.23023	N	0.998417	B	0.17038	0.02	B	0.25759	0.063	T	0.49781	-0.8903	9	0.66056	D	0.02	.	12.8102	0.57635	0.0:0.0:1.0:0.0	.	54	Q3KNS6	ZN829_HUMAN	D	54	ENSP00000429266:A54D	ENSP00000429266:A54D	A	-	2	0	ZNF829	42091137	0.002000	0.14202	0.756000	0.31282	0.988000	0.76386	1.214000	0.32419	2.474000	0.83562	0.591000	0.81541	GCT		0.433	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232		21	94	1	0	2.37509e-13	0.010504	3.67893e-13	21	94				
ZNF571	51276	broad.mit.edu	37	19	38056663	38056663	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:38056663A>G	ENST00000328550.2	-	4	766	c.667T>C	c.(667-669)Tat>Cat	p.Y223H	ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.Y223H|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.Y223H|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.Y223H|ZNF571-AS1_ENST00000590838.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y223H(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTACACTGATAAGGTTTTTCA	0.388																																							uc002ogt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(667-669)TAT>CAT		zinc finger protein 571							85.0	82.0	83.0					19																	38056663		2203	4300	6503	SO:0001583	missense	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056663A>G	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.667T>C	19.37:g.38056663A>G	ENSP00000333660:p.Tyr223His					uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.Y223H	p.Y223H	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	768	-			223			C2H2-type 4.		Q2HIY0|Q3ZCU3|Q9NZX7	Missense_Mutation	SNP	ENST00000328550.2	37	c.667T>C	CCDS12505.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613720	0.46631	.	.	ENSG00000180479	ENST00000328550;ENST00000451802;ENST00000358744	T;T;T	0.21734	1.99;1.99;1.99	3.76	2.73	0.32206	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29126	0.0724	L	0.38953	1.18	0.09310	N	1	P	0.44281	0.831	P	0.58660	0.843	T	0.09164	-1.0687	9	0.66056	D	0.02	.	6.4016	0.21642	0.7828:0.0:0.2172:0.0	.	223	Q7Z3V5	ZN571_HUMAN	H	223	ENSP00000333660:Y223H;ENSP00000392638:Y223H;ENSP00000351594:Y223H	ENSP00000333660:Y223H	Y	-	1	0	ZNF571	42748503	0.056000	0.20664	0.169000	0.22859	0.873000	0.50193	2.943000	0.49026	0.498000	0.27948	0.260000	0.18958	TAT		0.388	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536		4	45	0	0	0	0.009096	0	4	45				
ZNF607	84775	broad.mit.edu	37	19	38190116	38190116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:38190116C>A	ENST00000355202.4	-	5	1511	c.916G>T	c.(916-918)Gaa>Taa	p.E306*	ZNF607_ENST00000395835.3_Nonsense_Mutation_p.E305*|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	306					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E306*(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TAGGGTTTTTCTCCAGTATGA	0.413																																							uc002ohc.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(916-918)GAA>TAA		zinc finger protein 607							89.0	91.0	90.0					19																	38190116		2203	4300	6503	SO:0001587	stop_gained	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38190116C>A	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.916G>T	19.37:g.38190116C>A	ENSP00000347338:p.Glu306*					ZNF607_uc002ohb.1_Nonsense_Mutation_p.E305*	p.E306*	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	1512	-			306					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Nonsense_Mutation	SNP	ENST00000355202.4	37	c.916G>T	CCDS33006.1	.	.	.	.	.	.	.	.	.	.	C	39	7.583303	0.98371	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	.	.	.	2.27	2.27	0.28462	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	11.6009	0.51001	0.0:1.0:0.0:0.0	.	.	.	.	X	306;305	.	ENSP00000347338:E306X	E	-	1	0	ZNF607	42881956	0.988000	0.35896	0.951000	0.38953	0.972000	0.66771	4.664000	0.61540	1.255000	0.44051	0.561000	0.74099	GAA		0.413	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		23	118	1	0	3.62473e-10	0.012319	5.21961e-10	23	118				
CYP2F1	1572	broad.mit.edu	37	19	41622361	41622361	+	Splice_Site	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:41622361T>A	ENST00000331105.2	+	3	245	c.173T>A	c.(172-174)cTg>cAg	p.L58Q		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	58					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.L58Q(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TACCCTCAGCTGAGCAAGGAG	0.602																																							uc002opu.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(172-174)CTG>CAG		cytochrome P450, family 2, subfamily F,							145.0	141.0	142.0					19																	41622361		2203	4300	6503	SO:0001630	splice_region_variant	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41622361T>A	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.172-1T>A	19.37:g.41622361T>A						CYP2F1_uc010xvw.1_5'UTR|CYP2F1_uc010xvv.1_Missense_Mutation_p.L58Q|CYP2F1_uc002opv.1_RNA	p.L58Q	NM_000774	NP_000765	P24903	CP2F1_HUMAN			3	229	+			58					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	c.173T>A	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.522253	0.44866	.	.	ENSG00000197446	ENST00000331105	T	0.73152	-0.72	3.91	3.91	0.45181	.	0.773496	0.11419	U	0.565990	D	0.85292	0.5663	M	0.89214	3.015	0.45962	D	0.998781	D;D	0.89917	1.0;0.999	D;D	0.72982	0.979;0.947	D	0.84632	0.0690	10	0.87932	D	0	.	10.4187	0.44338	0.0:0.0:0.0:1.0	.	58;58	Q32MN5;P24903	.;CP2F1_HUMAN	Q	58	ENSP00000333534:L58Q	ENSP00000333534:L58Q	L	+	2	0	CYP2F1	46314201	0.903000	0.30736	0.910000	0.35882	0.038000	0.13279	5.558000	0.67319	1.641000	0.50575	0.445000	0.29226	CTG		0.602	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2		Missense_Mutation	18	141	0	0	0	0.006122	0	18	141				
ATP1A3	478	broad.mit.edu	37	19	42489545	42489545	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:42489545C>A	ENST00000302102.5	-	7	787	c.637G>T	c.(637-639)Gag>Tag	p.E213*	ATP1A3_ENST00000602133.1_Nonsense_Mutation_p.E183*|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000543770.1_Nonsense_Mutation_p.E224*|ATP1A3_ENST00000545399.1_Nonsense_Mutation_p.E226*	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	213					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.E213*(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GTCTGGGGCTCGGATTCGCCA	0.602																																							uc002osg.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(637-639)GAG>TAG		Na+/K+ -ATPase alpha 3 subunit							79.0	75.0	76.0					19																	42489545		2203	4300	6503	SO:0001587	stop_gained	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42489545C>A		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.637G>T	19.37:g.42489545C>A	ENSP00000302397:p.Glu213*					ATP1A3_uc010xwf.1_Nonsense_Mutation_p.E224*|ATP1A3_uc010xwg.1_Nonsense_Mutation_p.E183*|ATP1A3_uc010xwh.1_Nonsense_Mutation_p.E226*|ATP1A3_uc002osh.2_Nonsense_Mutation_p.E213*	p.E213*	NM_152296	NP_689509	P13637	AT1A3_HUMAN			7	791	-			213			Cytoplasmic (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Nonsense_Mutation	SNP	ENST00000302102.5	37	c.637G>T	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	35	5.567190	0.96540	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770	.	.	.	4.17	3.1	0.35709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.402	0.44235	0.0:0.8993:0.0:0.1007	.	.	.	.	X	213;213;226;183;224	.	ENSP00000302397:E213X	E	-	1	0	ATP1A3	47181385	1.000000	0.71417	0.366000	0.25914	0.834000	0.47266	5.979000	0.70508	0.865000	0.35603	0.478000	0.44815	GAG		0.602	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		26	68	1	0	1.75199e-13	0.007291	2.72183e-13	26	68				
GRIK5	2901	broad.mit.edu	37	19	42510926	42510926	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:42510926C>T	ENST00000262895.3	-	15	1907	c.1908G>A	c.(1906-1908)acG>acA	p.T636T	GRIK5_ENST00000301218.4_Silent_p.T636T|GRIK5_ENST00000593562.1_Silent_p.T636T	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	636					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.T636T(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CCAGGTTGGCCGTGTAGGAGG	0.632																																							uc002osj.1		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(1906-1908)ACG>ACA		glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)						62.0	49.0	53.0					19																	42510926		2203	4300	6503	SO:0001819	synonymous_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42510926C>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1908G>A	19.37:g.42510926C>T						GRIK5_uc002osi.1_Silent_p.T208T	p.T636T	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			15	1943	-		Prostate(69;0.059)	636			Helical; (Potential).		Q8WWG8	Silent	SNP	ENST00000262895.3	37	c.1908G>A	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	9.977	1.227206	0.22542	.	.	ENSG00000105737	ENST00000454993	.	.	.	5.36	4.31	0.51392	.	.	.	.	.	T	0.59018	0.2163	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56195	-0.8019	4	.	.	.	.	8.5713	0.33572	0.0:0.7623:0.1558:0.0819	.	.	.	.	S	13	.	.	G	-	1	0	GRIK5	47202766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.634000	0.37123	1.233000	0.43693	0.563000	0.77884	GGC		0.632	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			6	25	0	0	0	0.001984	0	6	25				
PSG6	5675	broad.mit.edu	37	19	43414865	43414865	+	Missense_Mutation	SNP	C	C	G	rs1058688		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:43414865C>G	ENST00000292125.2	-	3	617	c.573G>C	c.(571-573)agG>agC	p.R191S	PSG6_ENST00000187910.2_Missense_Mutation_p.R191S|PSG6_ENST00000402603.4_Missense_Mutation_p.R191S	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	191	Ig-like C2-type 1.		R -> S (in dbSNP:rs1058688).		female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.R191S(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ACAGCTGCAACCTGTGAGTCA	0.498																																							uc002ovj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(571-573)AGG>AGC		pregnancy specific beta-1-glycoprotein 6 isoform							216.0	219.0	218.0					19																	43414865		2201	4300	6501	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43414865C>G		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.573G>C	19.37:g.43414865C>G	ENSP00000292125:p.Arg191Ser					PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.R198S|PSG6_uc002ovi.2_Missense_Mutation_p.R192S|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_5'UTR|PSG6_uc002ovf.1_Missense_Mutation_p.R191S|PSG6_uc002ovg.1_Missense_Mutation_p.R191S	p.R191S	NM_002782	NP_002773	Q00889	PSG6_HUMAN			3	625	-		Prostate(69;0.00899)	191			Ig-like C2-type 1.		O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.573G>C	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	6.722	0.501943	0.12822	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125;ENST00000402456	T;T;T	0.00753	5.74;5.74;5.74	1.64	0.351	0.16042	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.02418	0.0074	M	0.64997	1.995	0.09310	N	1	D;B;B	0.67145	0.996;0.004;0.009	D;B;B	0.74023	0.982;0.031;0.044	T	0.46020	-0.9221	9	0.46703	T	0.11	.	5.4806	0.16721	0.0:0.6424:0.3575:0.0	rs1058688	191;191;191	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	S	191	ENSP00000187910:R191S;ENSP00000385736:R191S;ENSP00000292125:R191S	ENSP00000187910:R191S	R	-	3	2	PSG6	48106705	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.280000	0.08468	-0.017000	0.14103	0.194000	0.17425	AGG		0.498	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		27	334	0	0	0	0.012213	0	27	334				
PSG2	5670	broad.mit.edu	37	19	43576039	43576039	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:43576039C>A	ENST00000406487.1	-	4	875	c.777G>T	c.(775-777)ttG>ttT	p.L259F		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	259	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.L259F(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CGAAGCAAGACAAGTAGAGGT	0.448																																							uc002ovr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(775-777)TTG>TTT		pregnancy specific beta-1-glycoprotein 2							183.0	193.0	190.0					19																	43576039		2203	4299	6502	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43576039C>A		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.777G>T	19.37:g.43576039C>A	ENSP00000385706:p.Leu259Phe					PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.L259F|PSG2_uc010eiq.1_Missense_Mutation_p.L259F|PSG2_uc002ovs.3_Missense_Mutation_p.L259F|PSG2_uc002ovt.3_Missense_Mutation_p.L259F	p.L259F	NM_031246	NP_112536	P11465	PSG2_HUMAN			4	870	-		Prostate(69;0.00682)	259			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.777G>T	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	c	4.688	0.127846	0.08981	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.81330	-1.48	1.26	-2.53	0.06326	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85712	0.5760	M	0.80746	2.51	0.09310	N	1	B;D	0.64830	0.152;0.994	B;D	0.74348	0.297;0.983	T	0.74460	-0.3658	9	0.27082	T	0.32	.	6.4036	0.21652	0.0:0.6226:0.3774:0.0	.	259;259	B5MCM8;P11465	.;PSG2_HUMAN	F	259	ENSP00000385706:L259F	ENSP00000332984:L259F	L	-	3	2	PSG2	48267879	0.017000	0.18338	0.003000	0.11579	0.001000	0.01503	0.028000	0.13644	-0.176000	0.10707	-0.746000	0.03513	TTG		0.448	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		60	220	1	0	4.88506e-25	0.00361	8.54271e-25	60	220				
PSG9	5678	broad.mit.edu	37	19	43763273	43763273	+	Missense_Mutation	SNP	G	G	T	rs374762718		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:43763273G>T	ENST00000270077.3	-	4	820	c.724C>A	c.(724-726)Ccc>Acc	p.P242T	PSG9_ENST00000244293.7_Intron|PSG9_ENST00000418820.2_Missense_Mutation_p.P149T|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Missense_Mutation_p.P149T	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	242	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.P242T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GTGATGTAGGGGATGGGCAGC	0.478																																							uc002owd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(724-726)CCC>ACC		pregnancy specific beta-1-glycoprotein 9							193.0	203.0	200.0					19																	43763273		2142	4282	6424	SO:0001583	missense	5678				female pregnancy	extracellular region		g.chr19:43763273G>T	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.724C>A	19.37:g.43763273G>T	ENSP00000270077:p.Pro242Thr					PSG9_uc002owe.3_Intron|PSG9_uc010xwm.1_Missense_Mutation_p.P149T|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Intron|PSG9_uc002owh.2_Intron	p.P242T	NM_002784	NP_002775	Q00887	PSG9_HUMAN			4	823	-		Prostate(69;0.00682)	242			Ig-like C2-type 2.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000270077.3	37	c.724C>A	CCDS12618.1	.	.	.	.	.	.	.	.	.	.	N	10.36	1.327341	0.24080	.	.	ENSG00000183668	ENST00000270077;ENST00000443718;ENST00000435220	T;T	0.54279	0.58;2.32	1.39	1.39	0.22231	Immunoglobulin-like (1);	.	.	.	.	T	0.75474	0.3854	H	0.94698	3.57	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60717	-0.7208	9	0.59425	D	0.04	.	6.1189	0.20142	0.0:0.0:1.0:0.0	.	149;242	E7EW65;Q00887	.;PSG9_HUMAN	T	242;149;203	ENSP00000270077:P242T;ENSP00000396753:P149T	ENSP00000270077:P242T	P	-	1	0	PSG9	48455113	0.007000	0.16637	0.005000	0.12908	0.019000	0.09904	0.350000	0.20079	0.742000	0.32697	0.194000	0.17425	CCC		0.478	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		39	306	1	0	2.45108e-15	0.00874	3.96733e-15	39	306				
KCNN4	3783	broad.mit.edu	37	19	44273909	44273909	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:44273909C>A	ENST00000262888.3	-	5	1287	c.892G>T	c.(892-894)Gtg>Ttg	p.V298L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	298	Calmodulin-binding.				calcium ion transport (GO:0006816)|cell volume homeostasis (GO:0006884)|defense response (GO:0006952)|immune system process (GO:0002376)|phospholipid translocation (GO:0045332)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell receptor signaling pathway (GO:0050862)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|saliva secretion (GO:0046541)|stabilization of membrane potential (GO:0030322)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|Intermediate conductance calcium-activated potassium channel activity (GO:0022894)|protein phosphatase binding (GO:0019903)	p.V298L(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Enflurane(DB00228)|Halothane(DB01159)|Miconazole(DB01110)|Procaine(DB00721)|Quinine(DB00468)	AAGTTGTGCACGTGCTTCTCT	0.587																																							uc002oxl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(892-894)GTG>TTG		intermediate conductance calcium-activated	Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)						241.0	214.0	223.0					19																	44273909		2203	4300	6503	SO:0001583	missense	3783				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding	g.chr19:44273909C>A	AF022797	CCDS12630.1	19q13.2	2012-07-05				ENSG00000104783		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6293	protein-coding gene	gene with protein product		602754				9380751, 9407042, 16382103	Standard	NM_002250		Approved	KCa3.1, hSK4, hKCa4, hIKCa1	uc002oxl.3	O15554		ENST00000262888.3:c.892G>T	19.37:g.44273909C>A	ENSP00000262888:p.Val298Leu					KCNN4_uc010eiz.2_Missense_Mutation_p.V211L	p.V298L	NM_002250	NP_002241	O15554	KCNN4_HUMAN			5	1288	-		Prostate(69;0.0352)	298			Calmodulin-binding.		Q53XR4	Missense_Mutation	SNP	ENST00000262888.3	37	c.892G>T	CCDS12630.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000554	0.93227	.	.	ENSG00000104783	ENST00000262888;ENST00000407385	T	0.23348	1.91	5.02	5.02	0.67125	Calmodulin-binding domain (1);	0.000000	0.64402	D	0.000001	T	0.49932	0.1586	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;0.973	D;P	0.81914	0.995;0.643	T	0.52162	-0.8612	10	0.87932	D	0	-35.2435	16.2029	0.82102	0.0:1.0:0.0:0.0	.	192;298	D1MQ10;O15554	.;KCNN4_HUMAN	L	298;166	ENSP00000262888:V298L	ENSP00000262888:V298L	V	-	1	0	KCNN4	48965749	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	7.702000	0.84576	2.483000	0.83821	0.655000	0.94253	GTG		0.587	KCNN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463598.1	NM_002250		19	94	1	0	6.94344e-10	0.006122	9.93007e-10	19	94				
ZNF284	342909	broad.mit.edu	37	19	44585189	44585189	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:44585189G>A	ENST00000421176.3	+	3	253	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	13	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V13M(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				CTTCAAGGATGTGGCTGTGGT	0.522																																							uc002oyg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(37-39)GTG>ATG		zinc finger protein 284							257.0	231.0	240.0					19																	44585189		2203	4300	6503	SO:0001583	missense	342909				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44585189G>A	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.37G>A	19.37:g.44585189G>A	ENSP00000411032:p.Val13Met					ZNF284_uc010ejd.2_RNA	p.V13M	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN			3	253	+		Prostate(69;0.0435)	13			KRAB.		Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	c.37G>A	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	G	9.464	1.093804	0.20471	.	.	ENSG00000186026	ENST00000421176	T	0.10382	2.88	1.64	1.64	0.23874	Krueppel-associated box (4);	.	.	.	.	T	0.36771	0.0979	M	0.92412	3.305	0.21915	N	0.999479	D	0.89917	1.0	D	0.97110	1.0	T	0.06162	-1.0842	9	0.72032	D	0.01	.	6.7162	0.23304	0.0:0.0:1.0:0.0	.	13	Q2VY69	ZN284_HUMAN	M	13	ENSP00000411032:V13M	ENSP00000411032:V13M	V	+	1	0	ZNF284	49277029	1.000000	0.71417	0.601000	0.28877	0.015000	0.08874	4.634000	0.61325	1.202000	0.43218	0.462000	0.41574	GTG		0.522	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813		22	158	0	0	0	0.010504	0	22	158				
ZNF284	342909	broad.mit.edu	37	19	44590804	44590804	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:44590804G>T	ENST00000421176.3	+	5	1389	c.1173G>T	c.(1171-1173)cgG>cgT	p.R391R	RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R391R(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				GACATCAGCGGGTCCACAATG	0.433																																							uc002oyg.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1171-1173)CGG>CGT		zinc finger protein 284							127.0	131.0	130.0					19																	44590804		2062	4225	6287	SO:0001819	synonymous_variant	342909				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44590804G>T	AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.1173G>T	19.37:g.44590804G>T						ZNF284_uc010ejd.2_RNA	p.R391R	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN			5	1389	+		Prostate(69;0.0435)	391			C2H2-type 9.		Q86WM1	Silent	SNP	ENST00000421176.3	37	c.1173G>T	CCDS46099.1																																																																																				0.433	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1	NM_001037813		40	121	1	0	1.57019e-19	0.007835	2.67857e-19	40	121				
ZNF235	9310	broad.mit.edu	37	19	44791690	44791690	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:44791690C>G	ENST00000291182.4	-	5	2000	c.1898G>C	c.(1897-1899)gGt>gCt	p.G633A	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	633					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G633A(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GAAGGCCTTACCACAAGTGTC	0.448																																							uc002oza.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1897-1899)GGT>GCT		zinc finger protein 93 homolog							131.0	121.0	124.0					19																	44791690		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44791690C>G	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1898G>C	19.37:g.44791690C>G	ENSP00000291182:p.Gly633Ala					ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.G629A|ZNF235_uc010xwx.1_Missense_Mutation_p.G547A	p.G633A	NM_004234	NP_004225	Q14590	ZN235_HUMAN			5	2001	-		Prostate(69;0.0352)|all_neural(266;0.116)	633			C2H2-type 13.		B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.1898G>C	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463988	0.63513	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.57595	0.39	4.88	4.88	0.63580	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41938	D	0.000784	T	0.69788	0.3150	M	0.72576	2.205	0.47547	D	0.999453	D;D	0.65815	0.968;0.995	P;P	0.62014	0.53;0.897	T	0.73994	-0.3807	10	0.72032	D	0.01	-34.3412	17.153	0.86782	0.0:1.0:0.0:0.0	.	629;633	Q14590-2;Q14590	.;ZN235_HUMAN	A	633;633;525	ENSP00000291182:G633A	ENSP00000291182:G633A	G	-	2	0	ZNF235	49483530	0.964000	0.33143	0.515000	0.27774	0.823000	0.46562	2.370000	0.44240	2.426000	0.82243	0.313000	0.20887	GGT		0.448	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			7	153	0	0	0	0.001984	0	7	153				
CKM	1158	broad.mit.edu	37	19	45818777	45818777	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:45818777G>T	ENST00000221476.3	-	4	601	c.427C>A	c.(427-429)Ccc>Acc	p.P143T		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	143	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)	p.P143T(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	CAGTGTGGGGGCAACGTGTAG	0.682																																							uc002pbd.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(427-429)CCC>ACC		muscle creatine kinase	Creatine(DB00148)						41.0	40.0	40.0					19																	45818777		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45818777G>T	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.427C>A	19.37:g.45818777G>T	ENSP00000221476:p.Pro143Thr						p.P143T	NM_001824	NP_001815	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	4	501	-		Ovarian(192;0.0336)|all_neural(266;0.112)	143			Phosphagen kinase C-terminal.		Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.427C>A	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168136	0.57476	.	.	ENSG00000104879	ENST00000221476	T	0.14266	2.52	3.95	3.95	0.45737	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.130943	0.53938	D	0.000060	T	0.31670	0.0804	M	0.88105	2.93	0.58432	D	0.999999	P	0.40681	0.727	P	0.47206	0.541	T	0.35624	-0.9781	10	0.87932	D	0	-22.6868	13.5837	0.61917	0.0:0.0:1.0:0.0	.	143	P06732	KCRM_HUMAN	T	143	ENSP00000221476:P143T	ENSP00000221476:P143T	P	-	1	0	CKM	50510617	1.000000	0.71417	0.999000	0.59377	0.254000	0.26022	9.171000	0.94802	2.067000	0.61834	0.485000	0.47835	CCC		0.682	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			4	32	1	0	0.00909568	0.009096	0.00961122	4	32				
PPP1R15A	23645	broad.mit.edu	37	19	49378083	49378083	+	Silent	SNP	G	G	T	rs138580661		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:49378083G>T	ENST00000200453.5	+	2	1862	c.1593G>T	c.(1591-1593)ctG>ctT	p.L531L		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	531	Interaction with KMT2A/MLL1.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)	p.L531L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CCCTCCGACTGCAAAGGCGGC	0.602																																							uc002pky.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1591-1593)CTG>CTT		protein phosphatase 1, regulatory subunit 15A							34.0	35.0	35.0					19																	49378083		2203	4300	6503	SO:0001819	synonymous_variant	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49378083G>T	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.1593G>T	19.37:g.49378083G>T							p.L531L	NM_014330	NP_055145	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	1862	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	531			Interaction with MLL.		B4DKQ3|Q6IA96|Q9NVU6	Silent	SNP	ENST00000200453.5	37	c.1593G>T	CCDS12738.1																																																																																				0.602	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	NM_014330		10	47	1	0	1.58986e-06	0.008291	2.00704e-06	10	47				
CGB1	114335	broad.mit.edu	37	19	49539443	49539443	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:49539443C>A	ENST00000301407.7	-	2	231	c.127G>T	c.(127-129)Gtg>Ttg	p.V43L	CGB1_ENST00000391869.3_Missense_Mutation_p.V43L|CTB-60B18.6_ENST00000591656.1_Intron	NM_033377.1	NP_203695.2	A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1	75						extracellular region (GO:0005576)		p.V43L(1)		liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GTGATGCACACGGGGCAGCCC	0.682																																							uc002plx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(127-129)GTG>TTG		chorionic gonadotropin, beta polypeptide 1							22.0	23.0	23.0					19																	49539443		1485	2652	4137	SO:0001583	missense	114335					extracellular region	hormone activity	g.chr19:49539443C>A	S80935	CCDS12751.2	19q13.32	2012-10-03				ENSG00000267631			16721	protein-coding gene	gene with protein product		608823				6194155	Standard	NM_033377		Approved		uc002plx.3	A6NKQ9	OTTHUMG00000150186	ENST00000301407.7:c.127G>T	19.37:g.49539443C>A	ENSP00000301407:p.Val43Leu					CGB_uc010yad.1_Intron|SNAR-G1_uc010emp.1_5'Flank	p.V43L	NM_033377	NP_203695	A6NKQ9	CGB1_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	350	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	75					A4FVC8|A8MUK6	Missense_Mutation	SNP	ENST00000301407.7	37	c.127G>T	CCDS12751.2	.	.	.	.	.	.	.	.	.	.	c	9.544	1.114044	0.20795	.	.	ENSG00000213030	ENST00000301407;ENST00000391869	T;T	0.56611	0.45;0.45	1.79	-0.524	0.11920	.	0.842297	0.10659	N	0.648976	T	0.51770	0.1694	.	.	.	0.21020	N	0.999802	P	0.52577	0.954	P	0.53549	0.729	T	0.41360	-0.9513	9	0.36615	T	0.2	-11.6197	4.9217	0.13872	0.0:0.4668:0.0:0.5332	.	43	A6NKQ9-2	.	L	43	ENSP00000301407:V43L;ENSP00000375742:V43L	ENSP00000301407:V43L	V	-	1	0	CGB1	54231255	0.030000	0.19436	0.281000	0.24762	0.055000	0.15305	0.064000	0.14437	-0.057000	0.13199	0.184000	0.17185	GTG		0.682	CGB1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316746.4	NM_033377		8	95	1	0	1.12685e-05	0.004482	1.36319e-05	8	95				
GPR32	2854	broad.mit.edu	37	19	51274412	51274412	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:51274412G>T	ENST00000270590.4	+	1	692	c.555G>T	c.(553-555)tgG>tgT	p.W185C		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	185					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.W185C(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCAGAAAATGGAATGGCTGTA	0.572																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	Esophageal Squamous(113;152 1581 5732 15840 44398)	uc010ycf.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(553-555)TGG>TGT		G protein-coupled receptor 32							53.0	51.0	52.0					19																	51274412		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274412G>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.555G>T	19.37:g.51274412G>T	ENSP00000270590:p.Trp185Cys						p.W185C	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	555	+		all_neural(266;0.131)	185			Extracellular (Potential).		Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.555G>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369521	0.24771	.	.	ENSG00000142511	ENST00000270590	T	0.37915	1.17	2.62	-2.0	0.07433	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.26955	0.0660	L	0.36672	1.1	0.09310	N	1	P	0.50617	0.937	P	0.45037	0.467	T	0.17653	-1.0362	9	0.38643	T	0.18	.	6.3292	0.21260	0.1379:0.554:0.308:0.0	.	185	O75388	GPR32_HUMAN	C	185	ENSP00000270590:W185C	ENSP00000270590:W185C	W	+	3	0	GPR32	55966224	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	0.086000	0.14935	-0.507000	0.06549	0.313000	0.20887	TGG		0.572	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			9	50	1	0	1.12685e-05	0.004482	1.36319e-05	9	50				
SIGLEC8	27181	broad.mit.edu	37	19	51960729	51960729	+	Missense_Mutation	SNP	C	C	A	rs370112420		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:51960729C>A	ENST00000321424.3	-	2	785	c.719G>T	c.(718-720)cGc>cTc	p.R240L	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	240	Ig-like C2-type 1.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.R240L(1)|p.R240H(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CACATCGAGGCGGACGGTACT	0.622																																							uc002pwt.2		NA																	2	Substitution - Missense(2)		lung(1)|central_nervous_system(1)	ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(718-720)CGC>CTC		sialic acid binding Ig-like lectin 8 precursor							52.0	48.0	49.0					19																	51960729		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51960729C>A	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.719G>T	19.37:g.51960729C>A	ENSP00000321077:p.Arg240Leu					SIGLEC8_uc010yda.1_Intron|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Intron	p.R240L	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	786	-		all_neural(266;0.0199)	240			Ig-like C2-type 1.|Extracellular (Potential).		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.719G>T	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	9.142	1.014015	0.19277	.	.	ENSG00000105366	ENST00000321424	T	0.03468	3.92	2.87	-4.37	0.03633	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.073860	0.02651	N	0.106414	T	0.02649	0.0080	L	0.35542	1.07	0.09310	N	1	B	0.15719	0.014	B	0.11329	0.006	T	0.42783	-0.9431	10	0.16420	T	0.52	.	0.4154	0.00448	0.1964:0.2926:0.1996:0.3114	.	240	Q9NYZ4	SIGL8_HUMAN	L	240	ENSP00000321077:R240L	ENSP00000321077:R240L	R	-	2	0	SIGLEC8	56652541	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.876000	0.04201	-0.999000	0.03442	-0.450000	0.05554	CGC		0.622	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		12	25	1	0	1.5842e-08	0.001855	2.17619e-08	12	25				
SIGLEC14	100049587	broad.mit.edu	37	19	52147104	52147104	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:52147104C>A	ENST00000360844.6	-	5	981	c.940G>T	c.(940-942)Gga>Tga	p.G314*	SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	314	Ig-like C2-type 2.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.G314*(1)|p.G307*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		AATTCCCCTCCCTCTCTAGCT	0.587																																							uc002pxf.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(940-942)GGA>TGA		sialic acid binding Ig-like lectin 14 precursor							46.0	53.0	50.0					19																	52147104		1805	4034	5839	SO:0001587	stop_gained	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52147104C>A	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.940G>T	19.37:g.52147104C>A	ENSP00000354090:p.Gly314*						p.G314*	NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	5	1060	-		all_neural(266;0.0299)	314			Extracellular (Potential).|Ig-like C2-type 2.		Q6UXG0	Nonsense_Mutation	SNP	ENST00000360844.6	37	c.940G>T	CCDS42604.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.085154	0.55861	.	.	ENSG00000254415	ENST00000360844	.	.	.	3.09	1.97	0.26223	.	1.680520	0.04309	U	0.348623	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	7.8268	0.29320	0.0:0.7408:0.2592:0.0	.	.	.	.	X	314	.	ENSP00000354090:G314X	G	-	1	0	SIGLEC14	56838916	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.075000	0.11431	0.578000	0.29487	0.563000	0.77884	GGA		0.587	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		7	57	1	0	0.000157383	0.00308	0.000178208	7	57				
FPR3	2359	broad.mit.edu	37	19	52327484	52327484	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:52327484C>T	ENST00000339223.4	+	2	662	c.483C>T	c.(481-483)ttC>ttT	p.F161F	FPR3_ENST00000595991.1_Silent_p.F161F	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	161					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)	p.F161F(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TACCAAATTTCATCTTCTGGA	0.473																																							uc002pxt.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(4)|breast(1)|skin(1)	6						c.(481-483)TTC>TTT		formyl peptide receptor-like 2							139.0	127.0	131.0					19																	52327484		2203	4300	6503	SO:0001819	synonymous_variant	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327484C>T		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.483C>T	19.37:g.52327484C>T							p.F161F	NM_002030	NP_002021	P25089	FPR3_HUMAN			2	667	+			161			Helical; Name=4; (Potential).			Silent	SNP	ENST00000339223.4	37	c.483C>T	CCDS12841.1																																																																																				0.473	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		5	120	0	0	0	0.000602	0	5	120				
ZNF28	7576	broad.mit.edu	37	19	53303365	53303365	+	Missense_Mutation	SNP	G	G	A	rs139244544		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:53303365G>A	ENST00000457749.2	-	4	1852	c.1733C>T	c.(1732-1734)cCg>cTg	p.P578L	ZNF28_ENST00000360272.4_Missense_Mutation_p.P525L|ZNF28_ENST00000414252.2_Missense_Mutation_p.P525L|ZNF28_ENST00000438150.2_Missense_Mutation_p.P525L	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	578					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P525L(2)|p.P578L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ACATTTGTACGGTTTCTCTCC	0.423																																							uc002qad.2		NA																	3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(1732-1734)CCG>CTG		zinc finger protein 28		G	LEU/PRO	0,4406		0,0,2203	133.0	133.0	133.0		1733	0.4	0.1	19	dbSNP_134	133	1,8599		0,1,4299	no	missense	ZNF28	NM_006969.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	578/719	53303365	1,13005	2203	4300	6503	SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53303365G>A	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1733C>T	19.37:g.53303365G>A	ENSP00000397693:p.Pro578Leu					ZNF28_uc002qac.2_Missense_Mutation_p.P525L|ZNF28_uc010eqe.2_Missense_Mutation_p.P524L	p.P578L	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	4	1853	-			578					A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.1733C>T	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	10.43	1.347579	0.24426	0.0	1.16E-4	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3	1.61	0.408	0.16377	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35998	0.0951	M	0.75264	2.295	0.37941	D	0.932325	D	0.89917	1.0	D	0.79108	0.992	T	0.23048	-1.0199	9	0.66056	D	0.02	.	8.4748	0.33007	0.0:0.244:0.756:0.0	.	578	P17035	ZNF28_HUMAN	L	525;578;525;525;525	ENSP00000412143:P525L;ENSP00000397693:P578L;ENSP00000353410:P525L;ENSP00000444965:P525L;ENSP00000375661:P525L	ENSP00000353410:P525L	P	-	2	0	ZNF28	57995177	0.187000	0.23238	0.054000	0.19295	0.011000	0.07611	1.395000	0.34520	0.004000	0.14682	-0.715000	0.03620	CCG		0.423	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		46	158	0	0	0	0.011902	0	46	158				
ZNF28	7576	broad.mit.edu	37	19	53311326	53311326	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:53311326C>T	ENST00000457749.2	-	3	195	c.76G>A	c.(76-78)Gac>Aac	p.D26N	ZNF28_ENST00000360272.4_5'UTR|ZNF28_ENST00000594602.1_Missense_Mutation_p.D26N|ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000339844.6_5'UTR|ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000438150.2_5'Flank	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D26N(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGAGCAGGGTCCAGGCATTTC	0.488																																							uc002qad.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(76-78)GAC>AAC		zinc finger protein 28																																				SO:0001583	missense	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53311326C>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.76G>A	19.37:g.53311326C>T	ENSP00000397693:p.Asp26Asn					ZNF28_uc002qac.2_5'UTR|ZNF28_uc010eqe.2_Intron	p.D26N	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	3	196	-			26			KRAB.		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	c.76G>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	2.167	-0.390816	0.04932	.	.	ENSG00000198538	ENST00000457749	T	0.02525	4.26	1.87	-0.943	0.10395	Krueppel-associated box (4);	.	.	.	.	T	0.07908	0.0198	L	0.56199	1.76	0.25129	N	0.990586	D	0.69078	0.997	D	0.80764	0.994	T	0.31081	-0.9956	9	0.38643	T	0.18	.	4.757	0.13090	0.208:0.6423:0.0:0.1496	.	26	P17035	ZNF28_HUMAN	N	26	ENSP00000397693:D26N	ENSP00000397693:D26N	D	-	1	0	ZNF28	58003138	0.266000	0.24112	0.042000	0.18584	0.050000	0.14768	0.268000	0.18571	0.123000	0.18342	0.398000	0.26397	GAC		0.488	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969		26	204	0	0	0	0.004656	0	26	204				
ZNF160	90338	broad.mit.edu	37	19	53572675	53572675	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:53572675C>A	ENST00000429604.1	-	7	1527	c.1112G>T	c.(1111-1113)tGt>tTt	p.C371F	ZNF160_ENST00000599056.1_Missense_Mutation_p.C371F|ZNF160_ENST00000601421.1_Missense_Mutation_p.C335F|ZNF160_ENST00000418871.1_Missense_Mutation_p.C371F	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	371					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C371F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ACATTCATTACATTTGAACGG	0.388																																							uc010eqk.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1111-1113)TGT>TTT		zinc finger protein 160							87.0	89.0	88.0					19																	53572675		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53572675C>A	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1112G>T	19.37:g.53572675C>A	ENSP00000406201:p.Cys371Phe					ZNF160_uc002qaq.3_Missense_Mutation_p.C371F|ZNF160_uc002qar.3_Missense_Mutation_p.C371F	p.C371F	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	7	1528	-			371			C2H2-type 5.		Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.1112G>T	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390052	0.42410	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	D;D	0.85088	-1.94;-1.94	2.47	2.47	0.30058	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94251	0.8154	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95102	0.8231	9	0.87932	D	0	.	12.0276	0.53380	0.0:1.0:0.0:0.0	.	371	Q9HCG1	ZN160_HUMAN	F	371	ENSP00000406201:C371F;ENSP00000409597:C371F	ENSP00000409597:C371F	C	-	2	0	ZNF160	58264487	1.000000	0.71417	0.055000	0.19348	0.444000	0.32077	6.361000	0.73070	1.361000	0.45981	0.561000	0.74099	TGT		0.388	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		28	104	1	0	2.12542e-12	0.00632	3.24406e-12	28	104				
ZNF415	55786	broad.mit.edu	37	19	53611692	53611692	+	Missense_Mutation	SNP	G	G	A	rs138184993	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:53611692G>A	ENST00000500065.4	-	4	1939	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	ZNF415_ENST00000448501.1_Missense_Mutation_p.R584C|ZNF415_ENST00000243643.4_Missense_Mutation_p.R536C|ZNF415_ENST00000421033.1_Missense_Mutation_p.R548C|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000455735.2_Missense_Mutation_p.R584C|ZNF415_ENST00000440291.1_Missense_Mutation_p.R523C|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.R306C|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	584					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R536C(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		AGGTTTGGGCGCACACTAAAG	0.383													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20340	0.0		0.0	False		,,,				2504	0.0						uc002qax.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1750-1752)CGC>TGC		RecName: Full=Zinc finger protein 415;		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	142.0	137.0	139.0		1606,1606,1606	-5.2	0.0	19	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	ZNF415	NM_001136038.2,NM_001164309.1,NM_018355.2	180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	536/556,536/556,536/556	53611692	1,13005	2203	4300	6503	SO:0001583	missense	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53611692G>A	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.1606C>T	19.37:g.53611692G>A	ENSP00000439435:p.Arg536Cys					ZNF415_uc002qat.2_Missense_Mutation_p.R548C|ZNF415_uc002qaw.2_Missense_Mutation_p.R536C|ZNF415_uc010yds.1_Missense_Mutation_p.R536C|ZNF415_uc010ydt.1_Missense_Mutation_p.R536C|ZNF415_uc002qau.2_Missense_Mutation_p.R523C|ZNF415_uc002qav.2_Missense_Mutation_p.R548C|ZNF415_uc002qba.2_Missense_Mutation_p.R306C|ZNF415_uc002qay.2_Missense_Mutation_p.R523C|ZNF415_uc002qaz.2_Missense_Mutation_p.R584C	p.R584C	NR_028343		Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	2099	-			584			C2H2-type 12.		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	c.1750C>T	CCDS54313.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	2.824	-0.244195	0.05906	0.0	1.16E-4	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	T;T;T;T;T;T	0.16073	2.37;2.37;3.07;3.07;3.07;2.37	2.6	-5.19	0.02832	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08537	0.0212	L	0.45470	1.425	0.09310	N	1	B;P;B;B;B;P	0.42556	0.149;0.783;0.171;0.149;0.287;0.593	B;B;B;B;B;B	0.30943	0.01;0.036;0.008;0.01;0.016;0.122	T	0.01537	-1.1330	9	0.33940	T	0.23	.	1.4357	0.02343	0.2541:0.0916:0.2319:0.4225	.	536;584;584;536;523;548	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	C	536;536;584;548;584;523	ENSP00000243643:R536C;ENSP00000439435:R536C;ENSP00000396492:R584C;ENSP00000395055:R548C;ENSP00000388787:R584C;ENSP00000414601:R523C	ENSP00000243643:R536C	R	-	1	0	ZNF415	58303504	0.000000	0.05858	0.000000	0.03702	0.513000	0.34164	-4.849000	0.00178	-3.287000	0.00195	0.313000	0.20887	CGC		0.383	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		27	127	0	0	0	0.00632	0	27	127				
ZNF665	79788	broad.mit.edu	37	19	53668214	53668214	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:53668214C>G	ENST00000600412.1	-	2	1449	c.1334G>C	c.(1333-1335)gGa>gCa	p.G445A	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.G510A			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G445A(1)|p.G510A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AGGTTTTTCTCCAGTATGAAC	0.393																																							uc010eqm.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1528-1530)GGA>GCA		zinc finger protein 665							121.0	127.0	125.0					19																	53668214		2203	4300	6503	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53668214C>G		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1334G>C	19.37:g.53668214C>G	ENSP00000469154:p.Gly445Ala						p.G510A	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	4	1629	-			445					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.1529G>C		.	.	.	.	.	.	.	.	.	.	C	18.53	3.643657	0.67244	.	.	ENSG00000197497	ENST00000396424	T	0.26373	1.74	2.55	0.0858	0.14443	.	.	.	.	.	T	0.38665	0.1049	L	0.45228	1.405	0.23816	N	0.996762	D	0.89917	1.0	D	0.91635	0.999	T	0.21793	-1.0235	9	0.62326	D	0.03	.	9.2605	0.37610	0.388:0.612:0.0:0.0	.	510	Q9H7R5-2	.	A	510	ENSP00000379702:G510A	ENSP00000379702:G510A	G	-	2	0	ZNF665	58360026	0.000000	0.05858	0.002000	0.10522	0.734000	0.41952	0.094000	0.15107	-0.029000	0.13827	0.543000	0.68304	GGA		0.393	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		9	183	0	0	0	0.004482	0	9	183				
VN1R2	317701	broad.mit.edu	37	19	53762734	53762734	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:53762734G>T	ENST00000341702.3	+	1	1190	c.1106G>T	c.(1105-1107)tGc>tTc	p.C369F	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	369					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)	p.C369F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GTTCTCATGTGCCGTGACCCC	0.428																																							uc002qbi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1105-1107)TGC>TTC		vomeronasal 1 receptor 2							167.0	158.0	161.0					19																	53762734		2203	4300	6503	SO:0001583	missense	317701				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	g.chr19:53762734G>T	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.1106G>T	19.37:g.53762734G>T	ENSP00000351244:p.Cys369Phe						p.C369F	NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN		GBM - Glioblastoma multiforme(134;0.00301)	1	1190	+			369			Cytoplasmic (Potential).		A1L411|Q8TDU4	Missense_Mutation	SNP	ENST00000341702.3	37	c.1106G>T	CCDS12862.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257250	0.22965	.	.	ENSG00000196131	ENST00000341702	T	0.31247	1.5	2.94	0.757	0.18427	.	.	.	.	.	T	0.24160	0.0585	N	0.04880	-0.145	0.09310	N	1	D	0.58970	0.984	P	0.58780	0.845	T	0.10870	-1.0611	9	0.62326	D	0.03	.	5.3422	0.15990	0.2745:0.0:0.7255:0.0	.	369	Q8NFZ6	VN1R2_HUMAN	F	369	ENSP00000351244:C369F	ENSP00000351244:C369F	C	+	2	0	VN1R2	58454546	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-1.576000	0.02129	0.312000	0.23038	-0.212000	0.12691	TGC		0.428	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856		31	147	1	0	7.26314e-15	0.007291	1.16121e-14	31	147				
ZNF765	91661	broad.mit.edu	37	19	53911608	53911608	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:53911608G>T	ENST00000396408.3	+	4	917	c.800G>T	c.(799-801)gGt>gTt	p.G267V	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	267					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G267V(1)		endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TGTCACACTGGTGAGAAACCT	0.403																																							uc010ydx.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(799-801)GGT>GTT		zinc finger protein 765							118.0	115.0	116.0					19																	53911608		2203	4300	6503	SO:0001583	missense	91661				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53911608G>T	BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000396408.3:c.800G>T	19.37:g.53911608G>T	ENSP00000379689:p.Gly267Val					ZNF765_uc002qbm.2_Missense_Mutation_p.G267V|ZNF765_uc002qbn.2_Intron	p.G267V	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN		GBM - Glioblastoma multiforme(134;0.00379)	6	1127	+			267					A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	Missense_Mutation	SNP	ENST00000396408.3	37	c.800G>T	CCDS46171.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113246	0.37339	.	.	ENSG00000196417	ENST00000396408	T	0.23552	1.9	0.439	0.439	0.16567	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40694	0.1127	M	0.81341	2.54	0.39959	D	0.974637	P	0.50443	0.935	P	0.60012	0.867	T	0.37291	-0.9712	8	.	.	.	.	3.3267	0.07070	0.5814:0.0:0.4186:0.0	.	267	Q7L2R6	ZN765_HUMAN	V	267	ENSP00000379689:G267V	.	G	+	2	0	ZNF765	58603420	0.846000	0.29590	0.134000	0.22075	0.111000	0.19643	2.986000	0.49370	0.446000	0.26666	0.174000	0.16983	GGT		0.403	ZNF765-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371603.1	NM_138372		36	100	1	0	1.03484e-13	0.005524	1.61009e-13	36	100				
LILRA3	11026	broad.mit.edu	37	19	54803140	54803140	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:54803140C>A	ENST00000251390.3	-	4	628	c.537G>T	c.(535-537)cgG>cgT	p.R179R	LILRA3_ENST00000391745.1_Silent_p.R196R|LILRA3_ENST00000391744.3_Intron	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	179	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.R179R(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGAAGATGGCCCGGGATGACC	0.567																																							uc002qfd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(535-537)CGG>CGT		leukocyte immunoglobulin-like receptor,							138.0	115.0	123.0					19																	54803140		2195	4165	6360	SO:0001819	synonymous_variant	11026				defense response	extracellular region|plasma membrane	antigen binding|receptor activity	g.chr19:54803140C>A	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.537G>T	19.37:g.54803140C>A						LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Intron	p.R179R	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	602	-	Ovarian(34;0.19)		179			Ig-like C2-type 2.		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Silent	SNP	ENST00000251390.3	37	c.537G>T	CCDS12887.1																																																																																				0.567	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			23	126	1	0	2.21704e-12	0.00278	3.37896e-12	23	126				
LILRA2	11027	broad.mit.edu	37	19	55087569	55087569	+	Silent	SNP	G	G	T	rs539602525	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:55087569G>T	ENST00000251377.3	+	7	1381	c.1248G>T	c.(1246-1248)gtG>gtT	p.V416V	LILRA2_ENST00000391738.3_Silent_p.V416V|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Silent_p.V404V|LILRA2_ENST00000251376.3_Silent_p.V416V|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	416					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.V416V(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGGAGCTCGTGGTCTCAGGTG	0.607																																							uc002qgg.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1246-1248)GTG>GTT		leukocyte immunoglobulin-like receptor,							79.0	74.0	75.0					19																	55087569		2203	4300	6503	SO:0001819	synonymous_variant	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55087569G>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.1248G>T	19.37:g.55087569G>T						LILRA2_uc010ern.2_Silent_p.V416V|LILRA2_uc002qgf.2_Silent_p.V416V|LILRA2_uc010yfe.1_Silent_p.V416V|LILRA2_uc010yff.1_Silent_p.V404V|LILRA2_uc010ero.2_Silent_p.V404V|LILRA2_uc010yfg.1_Intron	p.V416V	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	6	1337	+			416			Extracellular (Potential).		O75020	Silent	SNP	ENST00000251377.3	37	c.1248G>T	CCDS46179.1																																																																																				0.607	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			13	86	1	0	1.3612e-06	0.003163	1.72463e-06	13	86				
PTPRH	5794	broad.mit.edu	37	19	55715354	55715354	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:55715354A>T	ENST00000376350.3	-	5	704	c.682T>A	c.(682-684)Tgg>Agg	p.W228R	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	228	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.W228R(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGGACCTCCCAGCTCAGGGAG	0.537																																							uc002qjq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(682-684)TGG>AGG		protein tyrosine phosphatase, receptor type, H							103.0	85.0	91.0					19																	55715354		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55715354A>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.682T>A	19.37:g.55715354A>T	ENSP00000365528:p.Trp228Arg					PTPRH_uc010esv.2_Intron|PTPRH_uc002qjs.2_Missense_Mutation_p.W235R	p.W228R	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	5	755	-		Renal(1328;0.245)	228			Extracellular (Potential).|Fibronectin type-III 3.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.682T>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.719600	0.48728	.	.	ENSG00000080031	ENST00000376350	T	0.69040	-0.37	3.44	3.44	0.39384	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.30464	N	0.009568	T	0.80210	0.4581	M	0.83012	2.62	0.48341	D	0.999631	D;D	0.89917	1.0;1.0	D;D	0.97110	0.98;1.0	T	0.81709	-0.0809	10	0.87932	D	0	.	8.8474	0.35179	1.0:0.0:0.0:0.0	.	50;228	Q9HD43-2;Q9HD43	.;PTPRH_HUMAN	R	228	ENSP00000365528:W228R	ENSP00000365528:W228R	W	-	1	0	PTPRH	60407166	0.733000	0.28132	0.028000	0.17463	0.011000	0.07611	2.309000	0.43699	1.512000	0.48834	0.413000	0.27773	TGG		0.537	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			16	97	0	0	0	0.003163	0	16	97				
NLRP11	204801	broad.mit.edu	37	19	56320398	56320398	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:56320398C>T	ENST00000589093.1	-	3	1671	c.1578G>A	c.(1576-1578)gtG>gtA	p.V526V	NLRP11_ENST00000592953.1_Silent_p.V427V|NLRP11_ENST00000589824.2_Silent_p.V526V|NLRP11_ENST00000360133.3_Silent_p.V526V|NLRP11_ENST00000443188.1_Silent_p.V526V			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	526							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.V526V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCATGTATCCCACCGAGTACC	0.423																																							uc010ygf.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1576-1578)GTG>GTA		NLR family, pyrin domain containing 11							151.0	144.0	146.0					19																	56320398		2203	4300	6503	SO:0001819	synonymous_variant	204801						ATP binding	g.chr19:56320398C>T	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1578G>A	19.37:g.56320398C>T						NLRP11_uc002qlz.2_Silent_p.V427V|NLRP11_uc002qmb.2_Silent_p.V427V|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.V526V	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	2289	-		Colorectal(82;0.0002)	526					C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	c.1578G>A	CCDS12935.1																																																																																				0.423	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		39	178	0	0	0	0.007835	0	39	178				
NLRP4	147945	broad.mit.edu	37	19	56382348	56382348	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:56382348G>T	ENST00000301295.6	+	7	2932	c.2510G>T	c.(2509-2511)tGc>tTc	p.C837F	NLRP4_ENST00000346986.5_Missense_Mutation_p.C781F|NLRP4_ENST00000587891.1_Missense_Mutation_p.C762F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	837					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.C837F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCGGACTGCTGCCTGGATTCA	0.507																																							uc002qmd.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2509-2511)TGC>TTC		NLR family, pyrin domain containing 4							86.0	81.0	83.0					19																	56382348		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56382348G>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2510G>T	19.37:g.56382348G>T	ENSP00000301295:p.Cys837Phe					NLRP4_uc002qmf.2_Missense_Mutation_p.C762F|NLRP4_uc010etf.2_Missense_Mutation_p.C612F	p.C837F	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	7	2932	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	837					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2510G>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	3.154	-0.173497	0.06421	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.52295	0.67;2.6	3.9	-7.8	0.01214	.	.	.	.	.	T	0.18341	0.0440	N	0.08118	0	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	0.12372	-1.0550	9	0.33141	T	0.24	.	1.8742	0.03215	0.1292:0.3729:0.2491:0.2488	.	781;762;837	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	F	837;781	ENSP00000301295:C837F;ENSP00000344787:C781F	ENSP00000301295:C837F	C	+	2	0	NLRP4	61074160	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.414000	0.01037	-1.926000	0.01061	-0.181000	0.13052	TGC		0.507	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		13	62	1	0	2.23348e-06	0.004007	2.80259e-06	13	62				
NLRP5	126206	broad.mit.edu	37	19	56539670	56539670	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:56539670C>G	ENST00000390649.3	+	7	2071	c.2071C>G	c.(2071-2073)Ctt>Gtt	p.L691V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	691					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.L691V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTTCCACTGTCTTTTCGAGAC	0.522																																							uc002qmj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(2071-2073)CTT>GTT		NACHT, LRR and PYD containing protein 5							101.0	104.0	103.0					19																	56539670		1949	4154	6103	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539670C>G	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2071C>G	19.37:g.56539670C>G	ENSP00000375063:p.Leu691Val					NLRP5_uc002qmi.2_Missense_Mutation_p.L672V	p.L691V	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2071	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	691					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2071C>G	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	9.960	1.222607	0.22457	.	.	ENSG00000171487	ENST00000390649	D	0.89485	-2.52	3.26	3.26	0.37387	.	0.000000	0.32719	N	0.005724	D	0.93575	0.7949	M	0.87827	2.91	0.09310	N	0.999993	D	0.61697	0.99	D	0.64410	0.925	D	0.86136	0.1578	10	0.87932	D	0	.	10.267	0.43460	0.0:1.0:0.0:0.0	.	691	P59047	NALP5_HUMAN	V	691	ENSP00000375063:L691V	ENSP00000375063:L691V	L	+	1	0	NLRP5	61231482	0.218000	0.23608	0.232000	0.24009	0.052000	0.14988	0.882000	0.28186	2.116000	0.64780	0.561000	0.74099	CTT		0.522	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		13	128	0	0	0	0.001855	0	13	128				
ZSCAN5B	342933	broad.mit.edu	37	19	56701607	56701607	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:56701607C>A	ENST00000586855.2	-	5	1390	c.1077G>T	c.(1075-1077)gtG>gtT	p.V359V	ZSCAN5B_ENST00000358992.3_Silent_p.V359V			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	359					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.V359V(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATTTATTGCACACGTCACATG	0.527																																							uc010ygh.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1075-1077)GTG>GTT		zinc finger and SCAN domain containing 5B							75.0	79.0	78.0					19																	56701607		2200	4294	6494	SO:0001819	synonymous_variant	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56701607C>A		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1077G>T	19.37:g.56701607C>A							p.V359V	NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN			4	1077	-			359			C2H2-type 1.			Silent	SNP	ENST00000586855.2	37	c.1077G>T	CCDS46203.1																																																																																				0.527	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		19	80	1	0	6.49762e-13	0.006122	9.99045e-13	19	80				
ZNF71	58491	broad.mit.edu	37	19	57132765	57132765	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:57132765G>C	ENST00000328070.6	+	3	344	c.110G>C	c.(109-111)gGa>gCa	p.G37A		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	37					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G37A(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGCTCAGAAGGAGTGTGGGAA	0.607																																							uc002qnm.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(109-111)GGA>GCA		zinc finger protein 71							35.0	37.0	36.0					19																	57132765		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57132765G>C	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.110G>C	19.37:g.57132765G>C	ENSP00000328245:p.Gly37Ala						p.G37A	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	348	+			37					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.110G>C	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	7.351	0.622952	0.14193	.	.	ENSG00000197951	ENST00000328070	T	0.06371	3.31	3.01	1.95	0.26073	.	.	.	.	.	T	0.04952	0.0133	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.45116	-0.9283	9	0.10111	T	0.7	.	8.0286	0.30451	0.0:0.2519:0.7481:0.0	.	37	Q9NQZ8	ZNF71_HUMAN	A	37	ENSP00000328245:G37A	ENSP00000328245:G37A	G	+	2	0	ZNF71	61824577	0.000000	0.05858	0.010000	0.14722	0.012000	0.07955	0.264000	0.18497	0.824000	0.34613	-0.305000	0.09177	GGA		0.607	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		7	35	0	0	0	0.001984	0	7	35				
ZNF71	58491	broad.mit.edu	37	19	57133628	57133628	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:57133628C>T	ENST00000328070.6	+	3	1207	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P325S(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CGGCGAGAAGCCCTACGTGTG	0.642																																							uc002qnm.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(973-975)CCC>TCC		zinc finger protein 71							82.0	76.0	78.0					19																	57133628		2203	4300	6503	SO:0001583	missense	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133628C>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.973C>T	19.37:g.57133628C>T	ENSP00000328245:p.Pro325Ser						p.P325S	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1211	+			325					Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	c.973C>T	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227622	0.79576	.	.	ENSG00000197951	ENST00000328070	T	0.28454	1.61	3.76	3.76	0.43208	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52677	0.1749	M	0.67625	2.065	0.42120	D	0.991424	D	0.89917	1.0	D	0.91635	0.999	T	0.58272	-0.7665	9	0.59425	D	0.04	.	14.5024	0.67732	0.0:1.0:0.0:0.0	.	325	Q9NQZ8	ZNF71_HUMAN	S	325	ENSP00000328245:P325S	ENSP00000328245:P325S	P	+	1	0	ZNF71	61825440	0.924000	0.31332	1.000000	0.80357	0.951000	0.60555	3.113000	0.50376	1.921000	0.55644	0.561000	0.74099	CCC		0.642	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		15	62	0	0	0	0.00499	0	15	62				
PEG3	5178	broad.mit.edu	37	19	57326145	57326145	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:57326145C>A	ENST00000326441.9	-	10	4028	c.3665G>T	c.(3664-3666)gGg>gTg	p.G1222V	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G1222V|PEG3_ENST00000593695.1_Missense_Mutation_p.G1096V|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G1098V|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1222					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)	p.G1222V(2)		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)		AATGGCCGACCCAGCAAGAGC	0.488																																							uc002qnu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3664-3666)GGG>GTG		paternally expressed 3 isoform 1							93.0	88.0	90.0					19																	57326145		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.chr19:57326145C>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3665G>T	19.37:g.57326145C>A	ENSP00000326581:p.Gly1222Val					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.G1193V|PEG3_uc002qnv.2_Missense_Mutation_p.G1222V|PEG3_uc002qnw.2_Missense_Mutation_p.G1098V|PEG3_uc002qnx.2_Missense_Mutation_p.G1096V|PEG3_uc010etr.2_Missense_Mutation_p.G1222V	p.G1222V	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	4016	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1222					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3665G>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639807	0.47153	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.03124	4.04;4.04	4.06	1.83	0.25207	.	0.468437	0.18142	N	0.150397	T	0.07908	0.0198	L	0.32530	0.975	.	.	.	D;D;D	0.89917	0.965;1.0;1.0	P;D;D	0.77004	0.742;0.988;0.989	T	0.17806	-1.0357	9	0.66056	D	0.02	-19.306	4.9355	0.13939	0.0:0.6136:0.2597:0.1266	.	1098;1222;1157	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	V	1222	ENSP00000326581:G1222V;ENSP00000403051:G1222V	ENSP00000326581:G1222V	G	-	2	0	ZIM2	62017957	0.000000	0.05858	0.001000	0.08648	0.985000	0.73830	0.403000	0.20982	0.603000	0.29913	0.655000	0.94253	GGG		0.488	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			18	53	1	0	4.75885e-15	0.00499	7.65522e-15	18	53				
PEG3	5178	broad.mit.edu	37	19	57327947	57327947	+	Silent	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:57327947A>G	ENST00000326441.9	-	10	2226	c.1863T>C	c.(1861-1863)taT>taC	p.Y621Y	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.Y621Y|PEG3_ENST00000593695.1_Silent_p.Y495Y|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.Y497Y|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	621					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)	p.Y621Y(2)		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)		TCTCTTTACCATACATTTTCT	0.443																																							uc002qnu.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1861-1863)TAT>TAC		paternally expressed 3 isoform 1							78.0	75.0	76.0					19																	57327947		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327947A>G	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.1863T>C	19.37:g.57327947A>G						ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Silent_p.Y592Y|PEG3_uc002qnv.2_Silent_p.Y621Y|PEG3_uc002qnw.2_Silent_p.Y497Y|PEG3_uc002qnx.2_Silent_p.Y495Y|PEG3_uc010etr.2_Silent_p.Y621Y	p.Y621Y	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2214	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	621					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.1863T>C	CCDS12948.1																																																																																				0.443	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			12	46	0	0	0	0.010729	0	12	46				
ZSCAN4	201516	broad.mit.edu	37	19	58187554	58187554	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:58187554C>T	ENST00000318203.5	+	3	738	c.41C>T	c.(40-42)tCc>tTc	p.S14F		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	14					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S14F(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGAACCATCCGAGAATAAT	0.398																																							uc002qpu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(40-42)TCC>TTC		zinc finger and SCAN domain containing 4							59.0	58.0	58.0					19																	58187554		2203	4300	6503	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58187554C>T	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.41C>T	19.37:g.58187554C>T	ENSP00000321963:p.Ser14Phe						p.S14F	NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	738	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	14					Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.41C>T	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469733	0.43839	.	.	ENSG00000180532	ENST00000318203	T	0.08546	3.08	3.97	2.91	0.33838	.	1.293660	0.05464	N	0.551708	T	0.16471	0.0396	L	0.36672	1.1	0.09310	N	1	D	0.76494	0.999	D	0.64595	0.927	T	0.26087	-1.0113	10	0.10111	T	0.7	-2.6542	9.7129	0.40256	0.0:0.7891:0.2109:0.0	.	14	Q8NAM6	ZSCA4_HUMAN	F	14	ENSP00000321963:S14F	ENSP00000321963:S14F	S	+	2	0	ZSCAN4	62879366	0.122000	0.22280	0.005000	0.12908	0.015000	0.08874	2.409000	0.44583	1.217000	0.43442	0.655000	0.94253	TCC		0.398	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		8	42	0	0	0	0.004482	0	8	42				
ZNF587	84914	broad.mit.edu	37	19	58367546	58367546	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:58367546G>C	ENST00000339656.5	+	2	290	c.108G>C	c.(106-108)caG>caC	p.Q36H	ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.Q35H|ZNF587B_ENST00000316462.4_3'UTR|CTD-2583A14.10_ENST00000598031.1_Missense_Mutation_p.Q36H|ZNF814_ENST00000597652.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_5'UTR	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q36H(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		GTGAGGCTCAGAGGTGCTTGT	0.498																																					Pancreas(59;641 1233 1885 20055 50741)	Pancreas(59;641 1233 1885 20055 50741)	uc002qql.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(106-108)CAG>CAC		zinc finger protein 587							129.0	109.0	116.0					19																	58367546		2202	4280	6482	SO:0001583	missense	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58367546G>C	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.108G>C	19.37:g.58367546G>C	ENSP00000345479:p.Gln36His					ZNF587_uc002qqb.2_5'UTR|ZNF587_uc010yhh.1_5'UTR|ZNF587_uc002qqi.1_5'UTR|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Missense_Mutation_p.Q35H	p.Q36H	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	2	246	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	36			KRAB.		A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	ENST00000339656.5	37	c.108G>C	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	12.68	2.011079	0.35511	.	.	ENSG00000198466	ENST00000423137;ENST00000339656;ENST00000540851	T;T	0.09445	2.98;2.98	2.26	1.16	0.20824	Krueppel-associated box (4);	.	.	.	.	T	0.43500	0.1250	H	0.98027	4.13	0.25848	N	0.983974	D;D	0.89917	1.0;0.993	D;P	0.97110	1.0;0.835	T	0.56661	-0.7942	8	0.87932	D	0	.	6.99	0.24750	0.1637:0.0:0.8363:0.0	.	35;36	G3V0H5;Q96SQ5	.;ZN587_HUMAN	H	35;36;36	ENSP00000393865:Q35H;ENSP00000345479:Q36H	ENSP00000345479:Q36H	Q	+	3	2	ZNF587	63059358	0.987000	0.35691	0.007000	0.13788	0.194000	0.23727	0.882000	0.28186	0.213000	0.20722	0.205000	0.17691	CAG		0.498	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		6	155	0	0	0	0.001984	0	6	155				
ZNF587	84914	broad.mit.edu	37	19	58369964	58369964	+	Missense_Mutation	SNP	G	G	C	rs570086293		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:58369964G>C	ENST00000339656.5	+	3	366	c.184G>C	c.(184-186)Gat>Cat	p.D62H	ZNF814_ENST00000596604.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.D61H|ZNF587B_ENST00000316462.4_3'UTR|CTD-2583A14.10_ENST00000598031.1_Missense_Mutation_p.D62H|ZNF814_ENST00000595295.1_3'UTR|ZNF814_ENST00000597652.1_5'Flank|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Missense_Mutation_p.D19H	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	62	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D62H(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		TGGATCAAAAGATGAGGAGGC	0.502																																					Pancreas(59;641 1233 1885 20055 50741)	Pancreas(59;641 1233 1885 20055 50741)	uc002qql.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(184-186)GAT>CAT		zinc finger protein 587							57.0	58.0	58.0					19																	58369964		2203	4300	6503	SO:0001583	missense	84914				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58369964G>C	AF294842	CCDS12964.1, CCDS56110.1	19q13.43	2013-01-08				ENSG00000198466		"""Zinc fingers, C2H2-type"", ""-"""	30955	protein-coding gene	gene with protein product						10520746	Standard	NM_032828		Approved	ZF6, FLJ14710, UBF-fl, FLJ20813	uc002qql.3	Q96SQ5	OTTHUMG00000154901	ENST00000339656.5:c.184G>C	19.37:g.58369964G>C	ENSP00000345479:p.Asp62His					ZNF587_uc002qqb.2_Missense_Mutation_p.D19H|ZNF587_uc010yhh.1_Missense_Mutation_p.D19H|ZNF587_uc002qqi.1_Missense_Mutation_p.D19H|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Missense_Mutation_p.D61H	p.D62H	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)	3	322	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	62			KRAB.		A0AV72|G3V0H5|Q6ZMK8	Missense_Mutation	SNP	ENST00000339656.5	37	c.184G>C	CCDS12964.1	.	.	.	.	.	.	.	.	.	.	.	9.380	1.072851	0.20147	.	.	ENSG00000198466	ENST00000376209;ENST00000423137;ENST00000339656;ENST00000540851;ENST00000419854	T;T;T	0.08546	5.51;5.51;3.08	1.4	-2.64	0.06114	Krueppel-associated box (3);	.	.	.	.	T	0.06325	0.0163	L	0.37507	1.11	0.27512	N	0.951664	P;B	0.43701	0.815;0.004	B;B	0.42692	0.395;0.001	T	0.26608	-1.0098	8	0.30854	T	0.27	.	3.7814	0.08682	0.354:0.206:0.4401:0.0	.	61;62	G3V0H5;Q96SQ5	.;ZN587_HUMAN	H	19;61;62;62;19	ENSP00000393865:D61H;ENSP00000345479:D62H;ENSP00000406999:D19H	ENSP00000345479:D62H	D	+	1	0	ZNF587	63061776	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.437000	0.06914	-0.838000	0.04218	0.195000	0.17529	GAT		0.502	ZNF587-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337594.2	NM_032828		6	104	0	0	0	0.001984	0	6	104				
A1BG	1	broad.mit.edu	37	19	58864328	58864328	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:58864328G>T	ENST00000263100.3	-	3	367	c.306C>A	c.(304-306)acC>acA	p.T102T	A1BG-AS1_ENST00000594950.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600379.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	102	Ig-like V-type 1.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.T102T(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TGCTCAGCTGGGTCCATCCTG	0.637																																							uc002qsd.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(304-306)ACC>ACA		alpha 1B-glycoprotein precursor							55.0	63.0	60.0					19																	58864328		2203	4300	6503	SO:0001819	synonymous_variant	1					extracellular region		g.chr19:58864328G>T		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.306C>A	19.37:g.58864328G>T						NCRNA00181_uc002qse.2_Intron|A1BG_uc002qsf.1_RNA|NCRNA00181_uc002qsg.2_RNA	p.T102T	NM_130786	NP_570602	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	3	368	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	102			Ig-like V-type 1.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Silent	SNP	ENST00000263100.3	37	c.306C>A	CCDS12976.1																																																																																				0.637	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786		14	89	1	0	3.27435e-08	0.00245	4.42801e-08	14	89				
MYT1L	23040	broad.mit.edu	37	2	1926362	1926362	+	Silent	SNP	C	C	T	rs368168562		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:1926362C>T	ENST00000399161.2	-	10	1926	c.1179G>A	c.(1177-1179)tcG>tcA	p.S393S	MYT1L_ENST00000428368.2_Silent_p.S393S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	393					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S393S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CAAACACTCTCGACCGGGGGC	0.587																																							uc002qxe.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(1177-1179)TCG>TCA		myelin transcription factor 1-like		C		0,4262		0,0,2131	43.0	45.0	44.0		1179	-11.9	0.0	2		44	1,8491		0,1,4245	no	coding-synonymous	MYT1L	NM_015025.2		0,1,6376	TT,TC,CC		0.0118,0.0,0.0078		393/1185	1926362	1,12753	2131	4246	6377	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926362C>T	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1179G>A	2.37:g.1926362C>T						MYT1L_uc002qxd.2_Silent_p.S393S|MYT1L_uc010ewl.1_RNA	p.S393S	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	2006	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	393					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.1179G>A																																																																																					0.587	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		11	51	0	0	0	0.010729	0	11	51				
MYT1L	23040	broad.mit.edu	37	2	1926736	1926736	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:1926736C>A	ENST00000399161.2	-	10	1552	c.805G>T	c.(805-807)Gcc>Tcc	p.A269S	MYT1L_ENST00000428368.2_Missense_Mutation_p.A269S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	269					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A269S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTCCTTGGGCTAATAGTTTA	0.408																																							uc002qxe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(805-807)GCC>TCC		myelin transcription factor 1-like							189.0	183.0	185.0					2																	1926736		1964	4155	6119	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1926736C>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.805G>T	2.37:g.1926736C>A	ENSP00000382114:p.Ala269Ser					MYT1L_uc002qxd.2_Missense_Mutation_p.A269S|MYT1L_uc010ewl.1_RNA	p.A269S	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	10	1632	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	269					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.805G>T		.	.	.	.	.	.	.	.	.	.	C	14.26	2.482238	0.44147	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.56776	0.45;0.44	6.07	5.18	0.71444	.	0.057023	0.64402	D	0.000001	T	0.62720	0.2451	L	0.34521	1.04	0.80722	D	1	P;D	0.89917	0.877;1.0	B;D	0.83275	0.411;0.996	T	0.59825	-0.7381	10	0.27082	T	0.32	-29.2143	17.3312	0.87264	0.0:0.8749:0.1251:0.0	.	269;269	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	S	269;217;269	ENSP00000382114:A269S;ENSP00000396103:A269S	ENSP00000295067:A217S	A	-	1	0	MYT1L	1905743	1.000000	0.71417	0.073000	0.20177	0.054000	0.15201	7.413000	0.80104	1.536000	0.49237	0.655000	0.94253	GCC		0.408	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		29	233	1	0	2.48779e-11	0.005443	3.721e-11	29	233				
CMPK2	129607	broad.mit.edu	37	2	6990087	6990087	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:6990087T>A	ENST00000256722.5	-	5	1243	c.1244A>T	c.(1243-1245)cAg>cTg	p.Q415L	CMPK2_ENST00000478738.1_5'UTR|CMPK2_ENST00000458098.1_Intron	NM_207315.3	NP_997198.2	Q5EBM0	CMPK2_HUMAN	cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial	415					cellular response to lipopolysaccharide (GO:0071222)|dTDP biosynthetic process (GO:0006233)|dUDP biosynthetic process (GO:0006227)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)|thymidylate kinase activity (GO:0004798)|UMP kinase activity (GO:0033862)	p.Q415L(1)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCCATCCGCTGGTAGGACAT	0.443																																							uc002qyo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1243-1245)CAG>CTG		UMP-CMP kinase 2 precursor							67.0	67.0	67.0					2																	6990087		1898	4103	6001	SO:0001583	missense	129607				dTDP biosynthetic process	mitochondrion	ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity	g.chr2:6990087T>A		CCDS42648.1, CCDS58695.1, CCDS58696.1	2p25.2	2008-01-25			ENSG00000134326	ENSG00000134326	2.7.4.14		27015	protein-coding gene	gene with protein product	"""cytidylate kinase 2"""	611787				17999954	Standard	NM_207315		Approved	TYKi, UMP-CMPK2	uc002qyo.4	Q5EBM0	OTTHUMG00000151629	ENST00000256722.5:c.1244A>T	2.37:g.6990087T>A	ENSP00000256722:p.Gln415Leu					CMPK2_uc002qyn.1_RNA|CMPK2_uc010yis.1_Intron	p.Q415L	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN			5	1353	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		415					A2RUB0|A5D8T2|B7ZM18|Q6ZRU2|Q96AL8	Missense_Mutation	SNP	ENST00000256722.5	37	c.1244A>T	CCDS42648.1	.	.	.	.	.	.	.	.	.	.	T	13.12	2.143516	0.37825	.	.	ENSG00000134326	ENST00000256722	T	0.42900	0.96	5.69	-1.81	0.07882	.	0.569921	0.18730	N	0.132759	T	0.22437	0.0541	N	0.12611	0.24	0.58432	D	0.999999	P	0.38677	0.642	B	0.37780	0.258	T	0.02901	-1.1096	10	0.22706	T	0.39	-14.7382	13.4086	0.60929	0.0:0.4373:0.0:0.5627	.	415	Q5EBM0	CMPK2_HUMAN	L	415	ENSP00000256722:Q415L	ENSP00000256722:Q415L	Q	-	2	0	CMPK2	6907538	0.962000	0.33011	0.927000	0.36925	0.735000	0.41995	0.005000	0.13129	-0.468000	0.06922	-0.912000	0.02778	CAG		0.443	CMPK2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323339.2	NM_207315		24	63	0	0	0	0.004656	0	24	63				
RNF144A	9781	broad.mit.edu	37	2	7154848	7154848	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:7154848G>T	ENST00000320892.6	+	5	688	c.246G>T	c.(244-246)gaG>gaT	p.E82D	RNF144A_ENST00000467276.1_Intron	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	82					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.E82D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		CTTAGATTGAGTGCATGGTTG	0.388																																							uc002qys.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(244-246)GAG>GAT		ring finger protein 144							121.0	123.0	122.0					2																	7154848		2203	4300	6503	SO:0001583	missense	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7154848G>T	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.246G>T	2.37:g.7154848G>T	ENSP00000321330:p.Glu82Asp					RNF144A_uc002qyt.2_Intron	p.E82D	NM_014746	NP_055561	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	5	688	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	82					D6W4Y6|Q585H5	Missense_Mutation	SNP	ENST00000320892.6	37	c.246G>T	CCDS1657.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.28|11.28	1.593545|1.593545	0.28357|0.28357	.|.	.|.	ENSG00000151692|ENSG00000151692	ENST00000320892;ENST00000427092|ENST00000432850	T|.	0.23348|.	1.91|.	5.52|5.52	-0.851|-0.851	0.10716|0.10716	.|.	0.042559|.	0.85682|.	D|.	0.000000|.	T|T	0.58352|0.58352	0.2116|0.2116	L|L	0.53249|0.53249	1.67|1.67	0.58432|0.58432	D|D	0.999992|0.999992	P|.	0.52842|.	0.956|.	D|.	0.65010|.	0.931|.	T|T	0.54754|0.54754	-0.8246|-0.8246	10|5	0.13853|.	T|.	0.58|.	.|.	11.6879|11.6879	0.51497|0.51497	0.5635:0.0:0.4365:0.0|0.5635:0.0:0.4365:0.0	.|.	82|.	P50876|.	R144A_HUMAN|.	D|I	82|78	ENSP00000321330:E82D|.	ENSP00000321330:E82D|.	E|S	+|+	3|2	2|0	RNF144A|RNF144A	7072299|7072299	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.985000|0.985000	0.73830|0.73830	0.673000|0.673000	0.25203|0.25203	-0.136000|-0.136000	0.11475|0.11475	0.655000|0.655000	0.94253|0.94253	GAG|AGT		0.388	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746		17	55	1	0	8.34094e-07	0.008871	1.06324e-06	17	55				
APOB	338	broad.mit.edu	37	2	21234901	21234901	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:21234901G>T	ENST00000233242.1	-	26	4966	c.4839C>A	c.(4837-4839)agC>agA	p.S1613R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1613			S -> T. {ECO:0000269|PubMed:22095935}.		artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.S1613R(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAAAGCAGGCTGAAGAACC	0.423																																							uc002red.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(4837-4839)AGC>AGA		apolipoprotein B precursor	Atorvastatin(DB01076)						91.0	78.0	82.0					2																	21234901		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21234901G>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4839C>A	2.37:g.21234901G>T	ENSP00000233242:p.Ser1613Arg						p.S1613R	NM_000384	NP_000375	P04114	APOB_HUMAN			26	4967	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1613					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.4839C>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490084	0.44249	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00792	5.69	5.88	4.07	0.47477	.	0.773963	0.11973	N	0.511595	T	0.00998	0.0033	L	0.34521	1.04	0.47584	D	0.999465	P	0.45902	0.868	B	0.42319	0.383	T	0.73994	-0.3807	10	0.72032	D	0.01	.	8.9728	0.35917	0.1304:0.0:0.7471:0.1225	.	1613	P04114	APOB_HUMAN	R	1613	ENSP00000233242:S1613R	ENSP00000233242:S1613R	S	-	3	2	APOB	21088406	0.997000	0.39634	0.847000	0.33407	0.932000	0.56968	0.479000	0.22228	0.811000	0.34303	0.650000	0.86243	AGC		0.423	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			19	74	1	0	5.3912e-06	0.006122	6.62947e-06	19	74				
CAD	790	broad.mit.edu	37	2	27446822	27446822	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:27446822G>T	ENST00000403525.1	+	8	1177	c.1033G>T	c.(1033-1035)Gat>Tat	p.D345Y	CAD_ENST00000264705.4_Missense_Mutation_p.D345Y			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.D345Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCCCTTCAGATATGGAACT	0.507																																							uc002rji.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(1033-1035)GAT>TAT		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						176.0	174.0	175.0					2																	27446822		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27446822G>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.1033G>T	2.37:g.27446822G>T	ENSP00000384510:p.Asp345Tyr					CAD_uc010eyw.2_Missense_Mutation_p.D345Y	p.D345Y	NM_004341	NP_004332	P27708	PYR1_HUMAN			8	1195	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		345			Glutamine amidotransferase type-1.|GATase (Glutamine amidotransferase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.1033G>T		.	.	.	.	.	.	.	.	.	.	G	25.9	4.688690	0.88639	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.91843	-2.92;-2.92	5.45	5.45	0.79879	Glutamine amidotransferase type 1 (2);	0.000000	0.85682	D	0.000000	D	0.98201	0.9405	H	0.99919	4.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99041	1.0824	10	0.87932	D	0	0.3322	14.7681	0.69654	0.0:0.0:1.0:0.0	.	345;345	F8VPD4;P27708	.;PYR1_HUMAN	Y	345	ENSP00000264705:D345Y;ENSP00000384510:D345Y	ENSP00000264705:D345Y	D	+	1	0	CAD	27300326	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.924000	0.92827	2.559000	0.86315	0.491000	0.48974	GAT		0.507	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			70	230	1	0	3.19358e-47	0.00361	5.78836e-47	70	230				
C2orf16	84226	broad.mit.edu	37	2	27803250	27803250	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:27803250C>G	ENST00000408964.2	+	1	3862	c.3811C>G	c.(3811-3813)Cag>Gag	p.Q1271E	ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1271						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.Q1271E(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TGAAAGCACTCAGAATGAAAA	0.408																																							uc002rkz.3		NA																	2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(3811-3813)CAG>GAG		hypothetical protein LOC84226							93.0	92.0	92.0					2																	27803250		1845	4103	5948	SO:0001583	missense	84226							g.chr2:27803250C>G	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3811C>G	2.37:g.27803250C>G	ENSP00000386190:p.Gln1271Glu					ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	p.Q1271E	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	3862	+	Acute lymphoblastic leukemia(172;0.155)		1271					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.3811C>G	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436349	0.25813	.	.	ENSG00000221843	ENST00000408964	T	0.10960	2.82	5.31	4.44	0.53790	.	.	.	.	.	T	0.16214	0.0390	L	0.29908	0.895	0.09310	N	1	D	0.58268	0.982	P	0.58013	0.831	T	0.10314	-1.0635	9	0.37606	T	0.19	.	9.9142	0.41423	0.0:0.9054:0.0:0.0946	.	1271	Q68DN1	CB016_HUMAN	E	1271	ENSP00000386190:Q1271E	ENSP00000386190:Q1271E	Q	+	1	0	C2orf16	27656754	0.062000	0.20869	0.146000	0.22360	0.110000	0.19582	1.276000	0.33156	1.236000	0.43740	-0.251000	0.11542	CAG		0.408	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		15	127	0	0	0	0.003163	0	15	127				
C2orf16	84226	broad.mit.edu	37	2	27805001	27805001	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:27805001C>G	ENST00000408964.2	+	1	5613	c.5562C>G	c.(5560-5562)ctC>ctG	p.L1854L	ZNF512_ENST00000556601.1_5'Flank|RP11-158I13.2_ENST00000505973.1_RNA|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000416005.2_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1854	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.L1854L(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAGCCACCTCAGTCCCTTGG	0.547																																							uc002rkz.3		NA																	2	Substitution - coding silent(2)		lung(2)	large_intestine(1)	1						c.(5560-5562)CTC>CTG		hypothetical protein LOC84226							79.0	86.0	84.0					2																	27805001		1930	4134	6064	SO:0001819	synonymous_variant	84226							g.chr2:27805001C>G	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5562C>G	2.37:g.27805001C>G						ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	p.L1854L	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	5613	+	Acute lymphoblastic leukemia(172;0.155)		1854			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.|23.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.5562C>G	CCDS42666.1																																																																																				0.547	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		17	109	0	0	0	0.008871	0	17	109				
XDH	7498	broad.mit.edu	37	2	31605971	31605971	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:31605971G>T	ENST00000379416.3	-	11	982	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	312	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.L312M(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GCATCCACCAGGGTTTTTTCC	0.537																																					Colon(66;682 1445 30109 40147)	Colon(66;682 1445 30109 40147)	uc002rnv.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(934-936)CTG>ATG		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						80.0	73.0	75.0					2																	31605971		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31605971G>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.934C>A	2.37:g.31605971G>T	ENSP00000368727:p.Leu312Met						p.L312M	NM_000379	NP_000370	P47989	XDH_HUMAN			11	1013	-	Acute lymphoblastic leukemia(172;0.155)		312			FAD-binding PCMH-type.		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.934C>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074949	0.76415	.	.	ENSG00000158125	ENST00000379416	T	0.30182	1.54	5.93	4.87	0.63330	FAD-binding, type 2 (2);CO dehydrogenase flavoprotein-like, FAD-binding, subdomain 2 (1);Xanthine dehydrogenase, small subunit (1);Molybdopterin dehydrogenase, FAD-binding (1);	0.062767	0.64402	D	0.000003	T	0.47893	0.1470	M	0.85462	2.755	0.80722	D	1	P	0.50156	0.932	P	0.51079	0.658	T	0.52653	-0.8547	10	0.59425	D	0.04	.	11.5386	0.50653	0.0768:0.0:0.7932:0.1299	.	312	P47989	XDH_HUMAN	M	312	ENSP00000368727:L312M	ENSP00000368727:L312M	L	-	1	2	XDH	31459475	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	6.571000	0.74000	2.817000	0.96982	0.551000	0.68910	CTG		0.537	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		7	58	1	0	0.00448238	0.004482	0.00478487	7	58				
CRIM1	51232	broad.mit.edu	37	2	36744595	36744595	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:36744595G>A	ENST00000280527.2	+	12	2483	c.2116G>A	c.(2116-2118)Gga>Aga	p.G706R		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	706	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.G706R(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CTGCCACAGCGGACGGGTGCT	0.582																																							uc002rpd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2116-2118)GGA>AGA		cysteine-rich motor neuron 1 precursor							92.0	84.0	86.0					2																	36744595		2203	4300	6503	SO:0001583	missense	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36744595G>A	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2116G>A	2.37:g.36744595G>A	ENSP00000280527:p.Gly706Arg						p.G706R	NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN			12	2155	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	706			VWFC 4.|Extracellular (Potential).		Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Missense_Mutation	SNP	ENST00000280527.2	37	c.2116G>A	CCDS1783.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538474	0.85917	.	.	ENSG00000150938	ENST00000280527;ENST00000413985	T;T	0.73363	-0.74;-0.74	5.56	4.68	0.58851	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.86847	0.6031	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.88485	0.3071	10	0.59425	D	0.04	-17.6875	13.3567	0.60631	0.0752:0.0:0.9248:0.0	.	706	Q9NZV1	CRIM1_HUMAN	R	706;68	ENSP00000280527:G706R;ENSP00000403120:G68R	ENSP00000280527:G706R	G	+	1	0	CRIM1	36598099	1.000000	0.71417	0.958000	0.39756	0.915000	0.54546	9.552000	0.98115	1.353000	0.45828	0.655000	0.94253	GGA		0.582	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	NM_016441		6	104	0	0	0	0.001984	0	6	104				
CDKL4	344387	broad.mit.edu	37	2	39414835	39414835	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:39414835C>A	ENST00000395035.3	-	6	667	c.668G>T	c.(667-669)aGa>aTa	p.R223I	CDKL4_ENST00000378803.1_Missense_Mutation_p.R223I			Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	223	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.R223I(1)		breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGATTGATGTCTTGGGATTAA	0.338																																							uc002rrm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(667-669)AGA>ATA		cyclin-dependent kinase-like 4							105.0	111.0	109.0					2																	39414835		2203	4300	6503	SO:0001583	missense	344387					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr2:39414835C>A		CCDS33184.1	2p22.3	2011-11-04			ENSG00000205111	ENSG00000205111		"""Cyclin-dependent kinases"""	19287	protein-coding gene	gene with protein product							Standard	NM_001009565		Approved		uc002rrm.3	Q5MAI5	OTTHUMG00000133574	ENST00000395035.3:c.668G>T	2.37:g.39414835C>A	ENSP00000378476:p.Arg223Ile					CDKL4_uc010fal.1_Missense_Mutation_p.R223I	p.R223I	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN			6	668	-		all_hematologic(82;0.248)	223			Protein kinase.		Q2NME9	Missense_Mutation	SNP	ENST00000395035.3	37	c.668G>T		.	.	.	.	.	.	.	.	.	.	C	22.7	4.318154	0.81469	.	.	ENSG00000205111	ENST00000451199;ENST00000378803;ENST00000395035	T;T;T	0.66460	-0.21;-0.14;-0.14	4.98	4.98	0.66077	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000016	T	0.71762	0.3378	N	0.26130	0.795	0.80722	D	1	D;P	0.58970	0.984;0.899	D;D	0.69479	0.93;0.964	T	0.75184	-0.3407	10	0.62326	D	0.03	-24.8754	15.7748	0.78204	0.0:1.0:0.0:0.0	.	223;223	Q2NME9;Q5MAI5	.;CDKL4_HUMAN	I	5;223;223	ENSP00000389833:R5I;ENSP00000368080:R223I;ENSP00000378476:R223I	ENSP00000368080:R223I	R	-	2	0	CDKL4	39268339	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.654000	0.61469	2.332000	0.79248	0.555000	0.69702	AGA		0.338	CDKL4-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000331655.1	XM_293029		18	42	1	0	5.3912e-06	0.006122	6.62947e-06	18	42				
PSME4	23198	broad.mit.edu	37	2	54122796	54122796	+	Missense_Mutation	SNP	T	T	C	rs139295214		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:54122796T>C	ENST00000404125.1	-	33	3821	c.3766A>G	c.(3766-3768)Ata>Gta	p.I1256V	PSME4_ENST00000421748.2_Missense_Mutation_p.I400V	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1256					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)	p.I1256V(1)|p.I1142V(1)		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)			GTTCTTGGTATAGTTTTGCTG	0.398																																							uc002rxp.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|pancreas(1)	5						c.(3766-3768)ATA>GTA		proteasome (prosome, macropain) activator		T	VAL/ILE	0,4406		0,0,2203	210.0	208.0	208.0		3766	-4.1	0.8	2	dbSNP_134	208	5,8595	4.3+/-15.6	0,5,4295	yes	missense	PSME4	NM_014614.2	29	0,5,6498	CC,CT,TT		0.0581,0.0,0.0384	benign	1256/1844	54122796	5,13001	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.chr2:54122796T>C	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.3766A>G	2.37:g.54122796T>C	ENSP00000384211:p.Ile1256Val					PSME4_uc010yop.1_Missense_Mutation_p.I1142V|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Missense_Mutation_p.I631V|PSME4_uc010fbv.1_Missense_Mutation_p.I400V	p.I1256V	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		33	3822	-			1256					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.3766A>G	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	T	4.016	0.000341	0.07819	0.0	5.81E-4	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.21191	2.02;2.02	4.99	-4.12	0.03916	Armadillo-type fold (1);	0.323726	0.33005	N	0.005389	T	0.04588	0.0125	N	0.02802	-0.49	0.09310	N	0.999997	B;B;B	0.15930	0.0;0.015;0.002	B;B;B	0.16289	0.002;0.015;0.001	T	0.26326	-1.0106	10	0.13470	T	0.59	.	0.3131	0.00291	0.2226:0.206:0.2516:0.3199	.	631;400;1256	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	V	400;1256	ENSP00000410830:I400V;ENSP00000384211:I1256V	ENSP00000384211:I1256V	I	-	1	0	PSME4	53976300	0.002000	0.14202	0.787000	0.31911	0.793000	0.44817	0.044000	0.13992	-0.925000	0.03775	-3.107000	0.00063	ATA		0.398	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		35	234	0	0	0	0.003271	0	35	234				
USP34	9736	broad.mit.edu	37	2	61441511	61441511	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:61441511T>A	ENST00000398571.2	-	68	8442	c.8366A>T	c.(8365-8367)gAg>gTg	p.E2789V	USP34_ENST00000472689.1_Intron	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2789					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E2789V(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TATTGCTGGCTCAGAAAGTTT	0.373																																							uc002sbe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(8365-8367)GAG>GTG		ubiquitin specific protease 34							102.0	98.0	99.0					2																	61441511		1872	4107	5979	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61441511T>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8366A>T	2.37:g.61441511T>A	ENSP00000381577:p.Glu2789Val						p.E2789V	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		68	8388	-			2789					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.8366A>T	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.203772|4.203772	0.79127|0.79127	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571|ENST00000411912	T|.	0.66099|.	-0.19|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.71913|.	0.3396|.	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	D|.	0.57899|.	0.981|.	D|.	0.69824|.	0.966|.	T|.	0.70695|.	-0.4801|.	10|.	0.87932|.	D|.	0|.	.|.	16.1095|16.1095	0.81250|0.81250	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2789|.	Q70CQ2|.	UBP34_HUMAN|.	V|C	2637;2637;2789|548	ENSP00000381577:E2789V|.	ENSP00000263989:E2637V|.	E|X	-|-	2|3	0|0	USP34|USP34	61295015|61295015	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.013000|8.013000	0.88655|0.88655	2.210000|2.210000	0.71456|0.71456	0.482000|0.482000	0.46254|0.46254	GAG|TGA		0.373	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			16	102	0	0	0	0.003163	0	16	102				
XPO1	7514	broad.mit.edu	37	2	61721218	61721218	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:61721218A>C	ENST00000401558.2	-	12	1783	c.1056T>G	c.(1054-1056)caT>caG	p.H352Q	XPO1_ENST00000404992.2_Missense_Mutation_p.H352Q|XPO1_ENST00000406957.1_Missense_Mutation_p.H352Q	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	352	Interaction with Ran and nuclear export complex formation.|Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)	p.H352Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			ACAACATATAATGAAGGGCCT	0.318			Mis		CLL																																		uc002sbj.2		NA	-'	Dom	yes		2	2p15	7514		"""exportin 1 (CRM1 homolog, yeast)"""			L					1	Substitution - Missense(1)		lung(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4						c.(1054-1056)CAT>CAG		exportin 1							65.0	71.0	69.0					2																	61721218		2203	4300	6503	SO:0001583	missense	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61721218A>C	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1056T>G	2.37:g.61721218A>C	ENSP00000384863:p.His352Gln					XPO1_uc010fcl.2_Missense_Mutation_p.H348Q|XPO1_uc010ypn.1_Missense_Mutation_p.H348Q|XPO1_uc002sbk.2_5'UTR|XPO1_uc002sbh.2_5'UTR	p.H352Q	NM_003400	NP_003391	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		12	1784	-			352			Necessary for HTLV-1 Rex-mediated mRNA export.|Interaction with Ran and nuclear export complex formation.		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	c.1056T>G	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.627640	0.28978	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.64260	-0.09;-0.09;-0.09	6.08	1.45	0.22620	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	N	0.04018	-0.295	0.44227	D	0.99706	B	0.02656	0.0	B	0.01281	0.0	T	0.31280	-0.9949	10	0.02654	T	1	-18.6049	9.9749	0.41777	0.654:0.0:0.346:0.0	.	352	O14980	XPO1_HUMAN	Q	352	ENSP00000384863:H352Q;ENSP00000385942:H352Q;ENSP00000385559:H352Q	ENSP00000384863:H352Q	H	-	3	2	XPO1	61574722	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.448000	0.35112	0.140000	0.18849	0.482000	0.46254	CAT		0.318	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		4	97	0	0	0	0.009096	0	4	97				
AFTPH	54812	broad.mit.edu	37	2	64778627	64778627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:64778627C>T	ENST00000422803.1	+	2	333	c.19C>T	c.(19-21)Cga>Tga	p.R7*	AFTPH_ENST00000238856.4_Nonsense_Mutation_p.R7*|AFTPH_ENST00000409933.1_Nonsense_Mutation_p.R7*|AFTPH_ENST00000238855.7_Nonsense_Mutation_p.R7*|AFTPH_ENST00000409183.1_5'Flank			Q6ULP2	AFTIN_HUMAN	aftiphilin	7					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)	p.R7*(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AGACATCATTCGAATGTACTC	0.378																																							uc002sdc.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(19-21)CGA>TGA		aftiphilin protein isoform a							81.0	86.0	85.0					2																	64778627		2197	4299	6496	SO:0001587	stop_gained	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778627C>T	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.19C>T	2.37:g.64778627C>T	ENSP00000397726:p.Arg7*					AFTPH_uc002scz.2_Nonsense_Mutation_p.R7*|AFTPH_uc002sda.2_Nonsense_Mutation_p.R7*|AFTPH_uc002sdb.2_Nonsense_Mutation_p.R7*	p.R7*	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN			1	51	+			7					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Nonsense_Mutation	SNP	ENST00000422803.1	37	c.19C>T		.	.	.	.	.	.	.	.	.	.	C	39	7.653639	0.98412	.	.	ENSG00000119844	ENST00000238856;ENST00000422803;ENST00000238855;ENST00000409933	.	.	.	5.63	4.75	0.60458	.	0.082377	0.48286	D	0.000183	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2079	16.4598	0.84032	0.1319:0.8681:0.0:0.0	.	.	.	.	X	7	.	ENSP00000238855:R7X	R	+	1	2	AFTPH	64632131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.737000	0.62066	1.502000	0.48669	0.655000	0.94253	CGA		0.378	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		6	126	0	0	0	0.001168	0	6	126				
PLEK	5341	broad.mit.edu	37	2	68607891	68607891	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:68607891C>A	ENST00000234313.7	+	3	414	c.235C>A	c.(235-237)Cac>Aac	p.H79N		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	79	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.H79N(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		ACAGCAGGACCACTTCTTCCA	0.468																																							uc002sen.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(235-237)CAC>AAC		pleckstrin							131.0	131.0	131.0					2																	68607891		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68607891C>A	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.235C>A	2.37:g.68607891C>A	ENSP00000234313:p.His79Asn					PLEK_uc010fde.2_Missense_Mutation_p.H79N	p.H79N	NM_002664	NP_002655	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	3	397	+		Ovarian(717;0.0129)	79			PH 1.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.235C>A	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118424	0.77323	.	.	ENSG00000115956	ENST00000234313	T	0.12255	2.7	5.79	3.98	0.46160	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.126381	0.64402	D	0.000001	T	0.39279	0.1072	M	0.87038	2.855	0.80722	D	1	B;B	0.33904	0.431;0.275	P;P	0.52672	0.706;0.589	T	0.25710	-1.0124	10	0.66056	D	0.02	.	12.7964	0.57562	0.1301:0.7449:0.1249:0.0	.	97;79	Q59GZ2;P08567	.;PLEK_HUMAN	N	79	ENSP00000234313:H79N	ENSP00000234313:H79N	H	+	1	0	PLEK	68461395	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.819000	0.55686	0.786000	0.33708	0.650000	0.86243	CAC		0.468	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		31	140	1	0	1.56442e-22	0.012213	2.70406e-22	31	140				
DYSF	8291	broad.mit.edu	37	2	71829926	71829926	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:71829926C>T	ENST00000258104.3	+	36	4171	c.3894C>T	c.(3892-3894)atC>atT	p.I1298I	DYSF_ENST00000409366.1_Silent_p.I1299I|DYSF_ENST00000413539.2_Silent_p.I1329I|DYSF_ENST00000409582.3_Silent_p.I1315I|DYSF_ENST00000410020.3_Silent_p.I1316I|DYSF_ENST00000409762.1_Silent_p.I1315I|DYSF_ENST00000429174.2_Silent_p.I1298I|DYSF_ENST00000394120.2_Silent_p.I1299I|DYSF_ENST00000410041.1_Silent_p.I1316I|DYSF_ENST00000409651.1_Silent_p.I1330I|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Silent_p.I1285I	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1298			I -> V (in MMD1 and LGMD2B; dbSNP:rs121908954). {ECO:0000269|PubMed:9731526}.		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)	p.I1316I(1)|p.I1298I(1)		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						CATCAAGGATCCTGGATGAGG	0.572																																							uc002sie.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(3892-3894)ATC>ATT		dysferlin isoform 8							50.0	51.0	51.0					2																	71829926		2203	4300	6503	SO:0001819	synonymous_variant	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71829926C>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.3894C>T	2.37:g.71829926C>T						DYSF_uc010feg.2_Silent_p.I1329I|DYSF_uc010feh.2_Silent_p.I1284I|DYSF_uc002sig.3_Silent_p.I1284I|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.I1298I|DYSF_uc010fef.2_Silent_p.I1315I|DYSF_uc010fei.2_Silent_p.I1315I|DYSF_uc010fek.2_Silent_p.I1316I|DYSF_uc010fej.2_Silent_p.I1285I|DYSF_uc010fel.2_Silent_p.I1285I|DYSF_uc010feo.2_Silent_p.I1330I|DYSF_uc010fem.2_Silent_p.I1299I|DYSF_uc010fen.2_Silent_p.I1316I|DYSF_uc002sif.2_Silent_p.I1299I|DYSF_uc010yqy.1_Silent_p.I179I|DYSF_uc010yqz.1_Silent_p.I38I	p.I1298I	NM_003494	NP_003485	O75923	DYSF_HUMAN			36	4270	+			1298		I -> V (in MMD1 and LGMD2B).	Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	ENST00000258104.3	37	c.3894C>T	CCDS1918.1																																																																																				0.572	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		11	45	0	0	0	0.004007	0	11	45				
MRPL53	116540	broad.mit.edu	37	2	74699773	74699773	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:74699773C>A	ENST00000258105.7	-	1	676	c.15G>T	c.(13-15)ttG>ttT	p.L5F	MRPL53_ENST00000409710.1_Missense_Mutation_p.L5F	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	5						mitochondrion (GO:0005739)|ribosome (GO:0005840)		p.L5F(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						CAAGCCGAGCCAAGGCAGCTG	0.592																																							uc002sln.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(13-15)TTG>TTT		mitochondrial ribosomal protein L53 precursor							57.0	54.0	55.0					2																	74699773		2203	4299	6502	SO:0001583	missense	116540					mitochondrion|ribosome		g.chr2:74699773C>A	BC012163	CCDS1944.1	2p13.1	2012-09-13			ENSG00000204822	ENSG00000204822		"""Mitochondrial ribosomal proteins / large subunits"""	16684	protein-coding gene	gene with protein product		611857				11551941	Standard	NM_053050		Approved		uc002sln.3	Q96EL3	OTTHUMG00000129961	ENST00000258105.7:c.15G>T	2.37:g.74699773C>A	ENSP00000258105:p.Leu5Phe					CCDC142_uc002slo.2_RNA	p.L5F	NM_053050	NP_444278	Q96EL3	RM53_HUMAN			1	155	-			5						Missense_Mutation	SNP	ENST00000258105.7	37	c.15G>T	CCDS1944.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.897786	0.33535	.	.	ENSG00000204822	ENST00000258105;ENST00000409710	T;T	0.51574	0.74;0.7	5.2	5.2	0.72013	.	0.357463	0.28595	N	0.014784	T	0.28167	0.0695	N	0.08118	0	0.80722	D	1	B	0.29716	0.255	B	0.25405	0.06	T	0.12372	-1.0550	10	0.40728	T	0.16	-14.0853	14.1041	0.65078	0.0:1.0:0.0:0.0	.	5	Q96EL3	RM53_HUMAN	F	5	ENSP00000258105:L5F;ENSP00000386920:L5F	ENSP00000258105:L5F	L	-	3	2	MRPL53	74553281	0.482000	0.25948	0.999000	0.59377	0.052000	0.14988	0.271000	0.18626	2.692000	0.91855	0.655000	0.94253	TTG		0.592	MRPL53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252225.2	NM_053050		14	47	1	0	7.93312e-07	0.00245	1.01249e-06	14	47				
DQX1	165545	broad.mit.edu	37	2	74750592	74750592	+	Missense_Mutation	SNP	C	C	T	rs201047482		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:74750592C>T	ENST00000404568.3	-	5	1108	c.889G>A	c.(889-891)Gta>Ata	p.V297I	DQX1_ENST00000393951.2_Missense_Mutation_p.V297I|DQX1_ENST00000495597.1_5'UTR	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	297	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)	p.V179I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AGGGGCAGTACTCGTGGTGGA	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		16168	0.001		0.0	False		,,,				2504	0.0						uc010yrw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(889-891)GTA>ATA		DEAQ box polypeptide 1 (RNA-dependent ATPase)							129.0	121.0	123.0					2																	74750592		2203	4300	6503	SO:0001583	missense	165545					nucleus	ATP binding|helicase activity|nucleic acid binding	g.chr2:74750592C>T	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965	ENST00000404568.3:c.889G>A	2.37:g.74750592C>T	ENSP00000384621:p.Val297Ile					DQX1_uc002smc.2_5'UTR	p.V297I	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN			5	1054	-			297			Helicase C-terminal.		Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.889G>A	CCDS1949.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	5.158	0.214727	0.09810	.	.	ENSG00000144045	ENST00000393951;ENST00000404568	T;T	0.02890	4.12;4.12	5.47	4.57	0.56435	Helicase, C-terminal (1);	0.169327	0.39687	N	0.001299	T	0.02012	0.0063	L	0.29908	0.895	0.27423	N	0.954234	B	0.09022	0.002	B	0.10450	0.005	T	0.46386	-0.9195	10	0.02654	T	1	-16.8078	6.586	0.22620	0.2031:0.7056:0.0:0.0913	.	297	Q8TE96	DQX1_HUMAN	I	297	ENSP00000377523:V297I;ENSP00000384621:V297I	ENSP00000377523:V297I	V	-	1	0	DQX1	74604100	0.998000	0.40836	0.741000	0.31004	0.389000	0.30415	3.843000	0.55865	1.237000	0.43756	0.561000	0.74099	GTA		0.557	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		39	135	0	0	0	0.005524	0	39	135				
REG3G	130120	broad.mit.edu	37	2	79255376	79255376	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:79255376C>T	ENST00000272324.5	+	6	686	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	REG3G_ENST00000393897.2_Missense_Mutation_p.P168S|REG3G_ENST00000409471.1_Missense_Mutation_p.P122S	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	168	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.P168S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCAAAGTTACCCTATGTCTG	0.493																																							uc002snw.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(502-504)CCC>TCC		regenerating islet-derived 3 gamma precursor							99.0	91.0	94.0					2																	79255376		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79255376C>T	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.502C>T	2.37:g.79255376C>T	ENSP00000272324:p.Pro168Ser					REG3G_uc002snx.2_Missense_Mutation_p.P168S|REG3G_uc010ffu.2_Missense_Mutation_p.P122S	p.P168S	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			6	587	+			168			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.502C>T	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.077923	0.36662	.	.	ENSG00000143954	ENST00000393897;ENST00000272324;ENST00000409471	T;T;T	0.19938	2.11;2.11;2.11	4.66	3.77	0.43336	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.265582	0.27384	N	0.019618	T	0.38532	0.1044	M	0.65320	2	0.38200	D	0.940167	D;D	0.71674	0.998;0.997	D;D	0.72075	0.976;0.963	T	0.25363	-1.0134	10	0.27082	T	0.32	.	10.9166	0.47139	0.0:0.8102:0.1898:0.0	.	122;168	Q3SYE6;Q6UW15	.;REG3G_HUMAN	S	168;168;122	ENSP00000377475:P168S;ENSP00000272324:P168S;ENSP00000387105:P122S	ENSP00000272324:P168S	P	+	1	0	REG3G	79108884	0.034000	0.19679	0.934000	0.37439	0.751000	0.42716	0.583000	0.23849	1.294000	0.44707	0.650000	0.86243	CCC		0.493	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		5	102	0	0	0	0.000602	0	5	102				
FUNDC2P2	388965	broad.mit.edu	37	2	84518273	84518273	+	RNA	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:84518273C>G	ENST00000331369.5	+	0	467									FUN14 domain containing 2 pseudogene 2																		GCTGAAGATCCCTAAGAGCAC	0.453																																							uc010ffz.1		NA																	0					0						c.(331-333)CCT>GCT		RecName: Full=FUN14 domain-containing protein 2; AltName: Full=Hepatitis C virus core-binding protein 6; AltName: Full=Cervical cancer proto-oncogene 3 protein;          Short=HCC-3;																																						388965							g.chr2:84518273C>G			2p11.2	2010-03-12			ENSG00000182814	ENSG00000182814			17247	pseudogene	pseudogene							Standard	NR_003663		Approved		uc010ffz.1		OTTHUMG00000152875		2.37:g.84518273C>G							p.P111A	NR_003663						1	468	+									Missense_Mutation	SNP	ENST00000331369.5	37	c.331C>G																																																																																					0.453	FUNDC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000333681.1	NR_003663		40	81	0	0	0	0.00623	0	40	81				
ANKRD36B	57730	broad.mit.edu	37	2	98175325	98175325	+	RNA	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:98175325C>G	ENST00000443455.1	-	0	1014							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TCTTTCTCGTCACTTGTAGCC	0.323																																							uc010yvc.1		NA																	0					0						c.(904-906)GAC>CAC		ankyrin repeat domain 36B							42.0	43.0	43.0					2																	98175325		1026	2278	3304			57730							g.chr2:98175325C>G	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98175325C>G						ANKRD36B_uc010yve.1_RNA|ANKRD36B_uc010fif.2_RNA	p.D302H	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN			10	1184	-			302					Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	Missense_Mutation	SNP	ENST00000443455.1	37	c.904G>C																																																																																					0.323	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328967.2	NM_025190		3	50	0	0	0	0.001168	0	3	50				
TMEM182	130827	broad.mit.edu	37	2	103414427	103414427	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:103414427A>T	ENST00000412401.2	+	4	642	c.437A>T	c.(436-438)tAc>tTc	p.Y146F	TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409528.1_Missense_Mutation_p.Y50F|TMEM182_ENST00000409173.1_Missense_Mutation_p.Y103F	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	146						integral component of membrane (GO:0016021)		p.Y146F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CATTTTCTCTACAAAGCTGGG	0.488																																							uc010fjb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(436-438)TAC>TTC		transmembrane protein 182 precursor							85.0	89.0	88.0					2																	103414427		2203	4300	6503	SO:0001583	missense	130827					integral to membrane		g.chr2:103414427A>T	AK054856	CCDS2064.1	2q12.1	2009-08-25			ENSG00000170417	ENSG00000170417			26391	protein-coding gene	gene with protein product						12477932	Standard	NM_144632		Approved	FLJ30294	uc010fjb.3	Q6ZP80	OTTHUMG00000130779	ENST00000412401.2:c.437A>T	2.37:g.103414427A>T	ENSP00000394178:p.Tyr146Phe					TMEM182_uc002tcc.3_Missense_Mutation_p.Y103F|TMEM182_uc002tcd.3_Missense_Mutation_p.Y50F|TMEM182_uc010ywe.1_RNA	p.Y146F	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN			4	624	+			146			Cytoplasmic (Potential).		C9JML7|Q3B7B8|Q53TT9|Q6GMU0|Q8WW45|Q96NR4	Missense_Mutation	SNP	ENST00000412401.2	37	c.437A>T	CCDS2064.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.342332	0.61073	.	.	ENSG00000170417	ENST00000409528;ENST00000409173;ENST00000412401	T;T;T	0.68903	-0.36;-0.36;-0.36	5.23	2.65	0.31530	.	0.178989	0.50627	N	0.000103	T	0.55816	0.1944	L	0.39898	1.24	0.49213	D	0.999761	B;B	0.12630	0.006;0.006	B;B	0.17722	0.019;0.019	T	0.55673	-0.8104	10	0.56958	D	0.05	-23.5008	10.8804	0.46935	0.7517:0.0:0.0:0.2483	.	146;103	Q6ZP80;B8ZZ71	TM182_HUMAN;.	F	50;103;146	ENSP00000387258:Y50F;ENSP00000387184:Y103F;ENSP00000394178:Y146F	ENSP00000387184:Y103F	Y	+	2	0	TMEM182	102780859	1.000000	0.71417	0.990000	0.47175	0.973000	0.67179	5.401000	0.66326	0.918000	0.36919	0.533000	0.62120	TAC		0.488	TMEM182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253293.1	NM_144632		14	110	0	0	0	0.001855	0	14	110				
CLASP1	23332	broad.mit.edu	37	2	122106166	122106166	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:122106166C>A	ENST00000263710.4	-	38	4724	c.4335G>T	c.(4333-4335)atG>atT	p.M1445I	CLASP1_ENST00000409078.3_Missense_Mutation_p.M1378I|CLASP1_ENST00000545861.1_Missense_Mutation_p.M1152I|CLASP1_ENST00000541377.1_Missense_Mutation_p.M1384I|CLASP1_ENST00000397587.3_Missense_Mutation_p.M1385I|CLASP1_ENST00000455322.2_Missense_Mutation_p.M1401I|CLASP1_ENST00000541859.1_Missense_Mutation_p.M1162I	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1445	Interaction with CLIP2. {ECO:0000250}.|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.M1445I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CTTTGGTCTGCATCTTGATGG	0.587																																							uc002tnc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(4333-4335)ATG>ATT		CLIP-associating protein 1 isoform 1							81.0	96.0	91.0					2																	122106166		2167	4264	6431	SO:0001583	missense	23332				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding	g.chr2:122106166C>A	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.4335G>T	2.37:g.122106166C>A	ENSP00000263710:p.Met1445Ile					CLASP1_uc010yyv.1_Missense_Mutation_p.M491I|CLASP1_uc002tmz.2_Missense_Mutation_p.M530I|CLASP1_uc002tna.2_Missense_Mutation_p.M491I|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.M1386I|CLASP1_uc010yza.1_Missense_Mutation_p.M1378I|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tmy.2_Missense_Mutation_p.M281I	p.M1445I	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN			37	4725	-	Renal(3;0.0496)		1445			Localization to kinetochores.|Interaction with PHLDB2 and RSN.|Interaction with CLIP2 (By similarity).		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37	c.4335G>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.068445	0.76301	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	4.72	4.72	0.59763	Armadillo-like helical (1);Armadillo-type fold (1);	0.074345	0.85682	D	0.000000	T	0.76891	0.4051	M	0.65975	2.015	0.80722	D	1	P;D;B	0.59767	0.515;0.986;0.416	B;D;B	0.70935	0.248;0.971;0.338	T	0.76702	-0.2862	10	0.38643	T	0.18	-13.0655	17.6528	0.88169	0.0:1.0:0.0:0.0	.	1378;1385;1445	E7EUA5;F5GWS0;Q7Z460	.;.;CLAP1_HUMAN	I	1445;1401;1385;1384;1162;1378;1152	ENSP00000263710:M1445I;ENSP00000389372:M1401I;ENSP00000380717:M1385I;ENSP00000441625:M1384I;ENSP00000441770:M1162I;ENSP00000386442:M1378I;ENSP00000438620:M1152I	ENSP00000263710:M1445I	M	-	3	0	CLASP1	121822636	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.506000	0.81665	2.166000	0.68216	0.462000	0.41574	ATG		0.587	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282		3	33	1	0	0.00024832	0.009096	0.000277565	3	33				
TUBA3D	113457	broad.mit.edu	37	2	132235960	132235960	+	Splice_Site	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:132235960G>A	ENST00000321253.6	+	2	333		c.e2+1			NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d						'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.?(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		ACTGTGGTCGGTAGGTGCCTG	0.597																																					Ovarian(137;2059 2432 35543 39401)	Ovarian(137;2059 2432 35543 39401)	uc002tsu.3		NA																	1	Unknown(1)		lung(1)		0						c.e2+1		tubulin, alpha 3d							22.0	21.0	22.0					2																	132235960		2201	4278	6479	SO:0001630	splice_region_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132235960G>A	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.226+1G>A	2.37:g.132235960G>A							p.D76_splice	NM_080386	NP_525125	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	333	+								A6NJQ0|Q5W099|Q6PEY3|Q96F18	Splice_Site	SNP	ENST00000321253.6	37	c.226_splice	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	10.92	1.487123	0.26686	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	.	.	.	2.47	2.47	0.30058	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6576	0.45684	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TUBA3D	131952430	1.000000	0.71417	0.981000	0.43875	0.379000	0.30106	8.387000	0.90167	1.376000	0.46267	0.194000	0.17425	.		0.597	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386	Intron	8	23	0	0	0	0.008291	0	8	23				
ZRANB3	84083	broad.mit.edu	37	2	135965138	135965138	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:135965138C>G	ENST00000264159.6	-	19	2991	c.2875G>C	c.(2875-2877)Gaa>Caa	p.E959Q	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.E957Q|ZRANB3_ENST00000401392.1_Missense_Mutation_p.E957Q	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	959					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)	p.E959Q(1)|p.E422Q(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGTTCAGTTTCAAATACTTTG	0.408																																							uc002tum.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)	2						c.(2875-2877)GAA>CAA		zinc finger, RAN-binding domain containing 3							215.0	202.0	206.0					2																	135965138		1921	4128	6049	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135965138C>G	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.2875G>C	2.37:g.135965138C>G	ENSP00000264159:p.Glu959Gln					ZRANB3_uc002tuk.2_Missense_Mutation_p.E502Q|ZRANB3_uc002tul.2_Missense_Mutation_p.E957Q	p.E959Q	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	19	2992	-			959					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.2875G>C	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488365	0.84854	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.91996	-2.95;-2.95;-2.94	5.81	5.81	0.92471	.	0.053639	0.64402	D	0.000001	D	0.91513	0.7320	M	0.62723	1.935	0.38710	D	0.953206	P;P	0.52170	0.919;0.951	B;B	0.43754	0.248;0.43	D	0.92522	0.6026	10	0.49607	T	0.09	-13.651	17.0142	0.86414	0.0:0.8731:0.1269:0.0	.	959;957	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	Q	422;422;957;959;957	ENSP00000383979:E957Q;ENSP00000264159:E959Q;ENSP00000441320:E957Q	ENSP00000264159:E959Q	E	-	1	0	ZRANB3	135681608	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.311000	0.65786	2.746000	0.94184	0.655000	0.94253	GAA		0.408	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143		22	304	0	0	0	0.00278	0	22	304				
LRP1B	53353	broad.mit.edu	37	2	141215131	141215131	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:141215131G>T	ENST00000389484.3	-	61	10686	c.9715C>A	c.(9715-9717)Cgt>Agt	p.R3239S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3239					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R3239S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTATGGGCACGGCTGAGTGAC	0.438										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(9715-9717)CGT>AGT		low density lipoprotein-related protein 1B							227.0	198.0	208.0					2																	141215131		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141215131G>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.9715C>A	2.37:g.141215131G>T	ENSP00000374135:p.Arg3239Ser	TSP Lung(27;0.18)					p.R3239S	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)	61	10687	-		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)	3239			Extracellular (Potential).|LDL-receptor class B 32.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9715C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352354	0.82132	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.92099	-2.97	5.46	5.46	0.80206	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	U	0.000000	D	0.93963	0.8067	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93169	0.6564	10	0.37606	T	0.19	.	19.3152	0.94208	0.0:0.0:1.0:0.0	.	3239	Q9NZR2	LRP1B_HUMAN	S	3239;3177	ENSP00000374135:R3239S	ENSP00000374135:R3239S	R	-	1	0	LRP1B	140931601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.899000	0.87370	2.550000	0.86006	0.655000	0.94253	CGT		0.438	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	122	1	0	3.09899e-07	0.004482	4.05431e-07	9	122				
LRP1B	53353	broad.mit.edu	37	2	141609221	141609221	+	Splice_Site	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:141609221C>A	ENST00000389484.3	-	28	5682	c.4711G>T	c.(4711-4713)Gaa>Taa	p.E1571*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1571				E -> G (in Ref. 2; AAL38108). {ECO:0000305}.	protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.E1571*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAAATTTACCATAGCAGGTC	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(4711-4713)GAA>TAA		low density lipoprotein-related protein 1B							70.0	72.0	71.0					2																	141609221		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141609221C>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.4711+1G>T	2.37:g.141609221C>A		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Nonsense_Mutation_p.E753*	p.E1571*	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)	28	5683	-		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)	1571	E -> G (in Ref. 2; AAL38108).		Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.4711G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	51	17.601229	0.99889	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	.	.	.	5.5	5.5	0.81552	.	0.247787	0.32836	U	0.005590	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4058	0.94647	0.0:1.0:0.0:0.0	.	.	.	.	X	1571;1509;716	.	.	E	-	1	0	LRP1B	141325691	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	7.716000	0.84723	2.591000	0.87537	0.585000	0.79938	GAA		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Nonsense_Mutation	7	68	1	0	5.18039e-06	0.00308	6.39282e-06	7	68				
LRP1B	53353	broad.mit.edu	37	2	141762977	141762977	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:141762977C>A	ENST00000389484.3	-	15	3401	c.2430G>T	c.(2428-2430)ttG>ttT	p.L810F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	810	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.L810F(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGGATAGCCAAGCAAAGTG	0.433										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2428-2430)TTG>TTT		low density lipoprotein-related protein 1B							92.0	88.0	89.0					2																	141762977		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141762977C>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.2430G>T	2.37:g.141762977C>A	ENSP00000374135:p.Leu810Phe	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.L810F	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)	15	3402	-		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)	810			Extracellular (Potential).|EGF-like 3.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2430G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.666631	0.47677	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.97138	-4.26	5.99	0.275	0.15659	.	0.000000	0.56097	U	0.000034	D	0.93973	0.8070	M	0.68593	2.085	0.43852	D	0.996448	B	0.25390	0.125	B	0.22753	0.041	D	0.86563	0.1842	10	0.20519	T	0.43	.	7.8967	0.29710	0.107:0.5287:0.0:0.3643	.	810	Q9NZR2	LRP1B_HUMAN	F	810;748	ENSP00000374135:L810F	ENSP00000374135:L810F	L	-	3	2	LRP1B	141479447	0.920000	0.31207	0.998000	0.56505	0.884000	0.51177	0.001000	0.13038	0.091000	0.17302	-0.169000	0.13324	TTG		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		17	72	1	0	0.00400662	0.004007	0.00428577	17	72				
LRP1B	53353	broad.mit.edu	37	2	141816619	141816619	+	Missense_Mutation	SNP	C	C	T	rs558496375		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:141816619C>T	ENST00000389484.3	-	9	2212	c.1241G>A	c.(1240-1242)aGa>aAa	p.R414K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	414					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R414K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATAAAGATGTCTAACCTATAA	0.303										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(1240-1242)AGA>AAA		low density lipoprotein-related protein 1B							72.0	75.0	74.0					2																	141816619		2202	4294	6496	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141816619C>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.1241G>A	2.37:g.141816619C>T	ENSP00000374135:p.Arg414Lys	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.R414K	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)	9	2213	-		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)	414			Extracellular (Potential).|LDL-receptor class B 4.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1241G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266674	0.23136	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91068	-2.78	5.83	1.71	0.24356	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.507764	0.20176	N	0.097631	T	0.77315	0.4112	N	0.16743	0.435	0.20074	N	0.999933	B	0.02656	0.0	B	0.01281	0.0	T	0.59048	-0.7527	10	0.09843	T	0.71	.	5.5554	0.17113	0.1383:0.6293:0.0:0.2323	.	414	Q9NZR2	LRP1B_HUMAN	K	414;352	ENSP00000374135:R414K	ENSP00000374135:R414K	R	-	2	0	LRP1B	141533089	0.994000	0.37717	1.000000	0.80357	0.839000	0.47603	1.137000	0.31479	0.337000	0.23665	0.563000	0.77884	AGA		0.303	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		7	114	0	0	0	0.001984	0	7	114				
KYNU	8942	broad.mit.edu	37	2	143718265	143718265	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:143718265C>T	ENST00000264170.4	+	8	913	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L	KYNU_ENST00000375773.2_Silent_p.L219L|KYNU_ENST00000409512.1_Silent_p.L219L	NM_003937.2	NP_003928.1			kynureninase									p.L219L(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		TGCAGTGATCCTGTTCAGTGG	0.428																																							uc002tvl.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(655-657)CTG>TTG		kynureninase (L-kynurenine hydrolase) isoform a	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						143.0	139.0	140.0					2																	143718265		2203	4300	6503	SO:0001819	synonymous_variant	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143718265C>T	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.655C>T	2.37:g.143718265C>T						KYNU_uc002tvk.2_Silent_p.L219L|KYNU_uc010fnm.2_Silent_p.L219L	p.L219L	NM_003937	NP_003928	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	8	785	+			219						Silent	SNP	ENST00000264170.4	37	c.655C>T	CCDS2183.1																																																																																				0.428	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		7	110	0	0	0	0.00308	0	7	110				
GTDC1	79712	broad.mit.edu	37	2	144714812	144714812	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:144714812C>A	ENST00000392869.2	-	8	1232	c.1080G>T	c.(1078-1080)atG>atT	p.M360I	GTDC1_ENST00000392867.3_Intron|GTDC1_ENST00000409214.1_Missense_Mutation_p.M360I|GTDC1_ENST00000463875.2_Missense_Mutation_p.M231I|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000241391.5_Intron|GTDC1_ENST00000542155.1_Missense_Mutation_p.M360I|GTDC1_ENST00000344850.4_Missense_Mutation_p.M360I|GTDC1_ENST00000409298.1_Missense_Mutation_p.M242I	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	360					biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)	p.M360I(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CAACATCAGCCATGCACAGTA	0.383																																							uc002tvp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1078-1080)ATG>ATT		glycosyltransferase-like domain containing 1							130.0	117.0	122.0					2																	144714812		2203	4300	6503	SO:0001583	missense	79712				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr2:144714812C>A	AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.1080G>T	2.37:g.144714812C>A	ENSP00000376608:p.Met360Ile					GTDC1_uc002tvo.2_Intron|GTDC1_uc002tvq.2_Missense_Mutation_p.M242I|GTDC1_uc002tvr.2_Intron|GTDC1_uc010fnn.2_Missense_Mutation_p.M360I|GTDC1_uc002tvs.2_Missense_Mutation_p.M328I|GTDC1_uc010fno.2_Missense_Mutation_p.M231I	p.M360I	NM_001006636	NP_001006637	Q4AE62	GTDC1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0914)	9	1359	-			360					A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	Missense_Mutation	SNP	ENST00000392869.2	37	c.1080G>T	CCDS33300.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483739	0.26598	.	.	ENSG00000121964	ENST00000392869;ENST00000409214;ENST00000409298;ENST00000542155;ENST00000344850;ENST00000463875	T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.93	5.93	0.95920	Glycosyl transferase, family 1 (1);	0.384723	0.36628	N	0.002492	T	0.64170	0.2574	N	0.19112	0.55	0.44104	D	0.996877	B;B;B	0.34015	0.435;0.005;0.213	B;B;B	0.32022	0.086;0.016;0.139	T	0.62058	-0.6934	10	0.37606	T	0.19	-24.1253	20.3539	0.98825	0.0:1.0:0.0:0.0	.	360;242;360	G1UFN1;B8ZZ45;Q4AE62	.;.;GTDC1_HUMAN	I	360;360;242;360;360;231	ENSP00000376608:M360I;ENSP00000386581:M360I;ENSP00000386691:M242I;ENSP00000438323:M360I;ENSP00000339750:M360I;ENSP00000437964:M231I	ENSP00000339750:M360I	M	-	3	0	GTDC1	144431282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.640000	0.37186	2.826000	0.97356	0.655000	0.94253	ATG		0.383	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254779.2	NM_024659		6	55	1	0	5.18039e-06	0.00308	6.39282e-06	6	55				
GALNT13	114805	broad.mit.edu	37	2	154996906	154996906	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:154996906C>T	ENST00000392825.3	+	4	766	c.199C>T	c.(199-201)Cct>Tct	p.P67S	GALNT13_ENST00000409237.1_Missense_Mutation_p.P67S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	67					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.P67S(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGTGTTGATTCCTAAAGATGA	0.383																																							uc002tyr.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(199-201)CCT>TCT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							120.0	122.0	121.0					2																	154996906		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:154996906C>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.199C>T	2.37:g.154996906C>T	ENSP00000376570:p.Pro67Ser					GALNT13_uc002tyt.3_Missense_Mutation_p.P67S|GALNT13_uc010foc.1_5'UTR	p.P67S	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			4	766	+			67			Lumenal (Potential).		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.199C>T	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218536	0.58560	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.54866	0.61;0.55	6.13	5.25	0.73442	.	0.101713	0.64402	D	0.000002	T	0.42154	0.1190	L	0.34521	1.04	0.80722	D	1	B;B	0.18310	0.003;0.027	B;B	0.19946	0.005;0.027	T	0.16276	-1.0408	10	0.29301	T	0.29	.	13.7076	0.62648	0.0:0.9263:0.0:0.0737	.	67;67	Q08ER7;Q8IUC8	.;GLT13_HUMAN	S	67	ENSP00000376570:P67S;ENSP00000387239:P67S	ENSP00000376570:P67S	P	+	1	0	GALNT13	154705152	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	3.972000	0.56838	2.932000	0.99384	0.644000	0.83932	CCT		0.383	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		13	38	0	0	0	0.001855	0	13	38				
GALNT13	114805	broad.mit.edu	37	2	155098649	155098649	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:155098649A>T	ENST00000392825.3	+	5	985	c.418A>T	c.(418-420)Aat>Tat	p.N140Y	GALNT13_ENST00000409237.1_Missense_Mutation_p.N140Y	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	140	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.N140Y(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CAGTGTGATAAATCGTTCCCC	0.378																																							uc002tyr.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(418-420)AAT>TAT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							130.0	120.0	123.0					2																	155098649		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155098649A>T	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.418A>T	2.37:g.155098649A>T	ENSP00000376570:p.Asn140Tyr					GALNT13_uc002tyt.3_Missense_Mutation_p.N140Y|GALNT13_uc010foc.1_5'UTR	p.N140Y	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN			5	985	+			140			Lumenal (Potential).|Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.418A>T	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.591313	0.66219	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.64260	-0.09;-0.09	5.56	5.56	0.83823	Glycosyl transferase, family 2 (1);	0.358943	0.32655	N	0.005809	T	0.80737	0.4680	M	0.92738	3.34	0.47994	D	0.999568	D;D	0.56968	0.978;0.964	D;P	0.63793	0.918;0.811	D	0.83727	0.0196	10	0.52906	T	0.07	.	9.8511	0.41057	0.9192:0.0:0.0808:0.0	.	140;140	Q08ER7;Q8IUC8	.;GLT13_HUMAN	Y	140	ENSP00000376570:N140Y;ENSP00000387239:N140Y	ENSP00000376570:N140Y	N	+	1	0	GALNT13	154806895	0.988000	0.35896	1.000000	0.80357	0.997000	0.91878	3.088000	0.50175	2.118000	0.64928	0.472000	0.43445	AAT		0.378	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917		14	42	0	0	0	0.003163	0	14	42				
PKP4	8502	broad.mit.edu	37	2	159519520	159519520	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:159519520G>C	ENST00000389759.3	+	14	2435	c.2323G>C	c.(2323-2325)Gag>Cag	p.E775Q	PKP4_ENST00000389757.3_Missense_Mutation_p.E775Q|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000495123.1_3'UTR	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	775					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.E775Q(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ACTAGGAAAAGAGTCTCCCAG	0.488										HNSCC(62;0.18)																													uc002tzv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(2323-2325)GAG>CAG		plakophilin 4 isoform a							46.0	50.0	49.0					2																	159519520		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159519520G>C	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2323G>C	2.37:g.159519520G>C	ENSP00000374409:p.Glu775Gln	HNSCC(62;0.18)				PKP4_uc002tzt.1_Missense_Mutation_p.E627Q|PKP4_uc002tzu.2_Missense_Mutation_p.E775Q|PKP4_uc002tzw.2_Missense_Mutation_p.E775Q|PKP4_uc002tzx.2_Missense_Mutation_p.E432Q|PKP4_uc002tzy.1_Missense_Mutation_p.E433Q|PKP4_uc002uaa.2_Missense_Mutation_p.E627Q|uc002uab.1_Intron|PKP4_uc002uac.2_5'UTR	p.E775Q	NM_003628	NP_003619	Q99569	PKP4_HUMAN			14	2583	+			775					Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.2323G>C	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.549921	0.65311	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.80214	-1.35;-1.35	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81555	0.4847	N	0.20986	0.625	0.80722	D	1	P;D;B	0.57899	0.944;0.981;0.224	P;P;B	0.56563	0.563;0.801;0.072	T	0.81252	-0.1017	10	0.42905	T	0.14	-15.2533	20.0912	0.97820	0.0:0.0:1.0:0.0	.	730;775;775	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	Q	775	ENSP00000374407:E775Q;ENSP00000374409:E775Q	ENSP00000374407:E775Q	E	+	1	0	PKP4	159227766	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	7.882000	0.87258	2.746000	0.94184	0.591000	0.81541	GAG		0.488	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			20	46	0	0	0	0.010504	0	20	46				
TTC21B	79809	broad.mit.edu	37	2	166767876	166767876	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:166767876C>T	ENST00000243344.7	-	18	2559	c.2422G>A	c.(2422-2424)Gca>Aca	p.A808T		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	808					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.A808T(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ACTTTTTCTGCTTTGTCATAC	0.353																																							uc002udk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|breast(1)	5						c.(2422-2424)GCA>ACA		tetratricopeptide repeat domain 21B							140.0	142.0	141.0					2																	166767876		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166767876C>T	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.2422G>A	2.37:g.166767876C>T	ENSP00000243344:p.Ala808Thr						p.A808T	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			18	2555	-			808			TPR 11.		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.2422G>A	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539904	0.85917	.	.	ENSG00000123607	ENST00000243344	D	0.99201	-5.55	5.69	5.69	0.88448	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.155750	0.56097	D	0.000024	D	0.99223	0.9730	M	0.82823	2.61	0.80722	D	1	D	0.55385	0.971	P	0.60415	0.874	D	0.99521	1.0958	10	0.54805	T	0.06	-16.4747	19.812	0.96551	0.0:1.0:0.0:0.0	.	808	Q7Z4L5	TT21B_HUMAN	T	808	ENSP00000243344:A808T	ENSP00000243344:A808T	A	-	1	0	TTC21B	166476122	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.683000	0.61679	2.683000	0.91414	0.557000	0.71058	GCA		0.353	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		7	102	0	0	0	0.00308	0	7	102				
XIRP2	129446	broad.mit.edu	37	2	168100183	168100183	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:168100183G>A	ENST00000409195.1	+	9	2370	c.2281G>A	c.(2281-2283)Gac>Aac	p.D761N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.D761N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D539N|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	586					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.D761N(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCACAGAGAAGACGTTGAAAA	0.363																																							uc002udx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(2281-2283)GAC>AAC		xin actin-binding repeat containing 2 isoform 1							72.0	66.0	68.0					2																	168100183		1859	4089	5948	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100183G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2281G>A	2.37:g.168100183G>A	ENSP00000386840:p.Asp761Asn					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.D586N|XIRP2_uc010fpq.2_Missense_Mutation_p.D539N|XIRP2_uc010fpr.2_Intron	p.D761N	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	2299	+			586					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.2281G>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881180	0.72294	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.03413	3.94;3.94;3.94	5.92	5.92	0.95590	.	0.049680	0.85682	D	0.000000	T	0.17704	0.0425	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.989;0.989	T	0.00008	-1.2486	10	0.87932	D	0	-20.9652	20.3213	0.98679	0.0:0.0:1.0:0.0	.	586;586;539	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	761;761;539	ENSP00000386840:D761N;ENSP00000295237:D761N;ENSP00000387255:D539N	ENSP00000295237:D761N	D	+	1	0	XIRP2	167808429	1.000000	0.71417	0.998000	0.56505	0.609000	0.37215	7.653000	0.83643	2.810000	0.96702	0.650000	0.86243	GAC		0.363	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		6	44	0	0	0	0.001984	0	6	44				
LRP2	4036	broad.mit.edu	37	2	170092556	170092556	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:170092556C>A	ENST00000263816.3	-	29	4999	c.4714G>T	c.(4714-4716)Gac>Tac	p.D1572Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1572					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.D1572Y(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGGCCCCAGTCAGACCAGAAC	0.468																																							uc002ues.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(4714-4716)GAC>TAC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						53.0	48.0	50.0					2																	170092556		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170092556C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4714G>T	2.37:g.170092556C>A	ENSP00000263816:p.Asp1572Tyr						p.D1572Y	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	29	4927	-			1572			LDL-receptor class B 12.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4714G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130508	0.77549	.	.	ENSG00000081479	ENST00000263816	D	0.99586	-6.23	5.78	2.97	0.34412	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.185669	0.56097	D	0.000029	D	0.99715	0.9890	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98402	1.0568	10	0.87932	D	0	.	9.3953	0.38399	0.0:0.7502:0.1194:0.1304	.	1572	P98164	LRP2_HUMAN	Y	1572	ENSP00000263816:D1572Y	ENSP00000263816:D1572Y	D	-	1	0	LRP2	169800802	1.000000	0.71417	0.999000	0.59377	0.956000	0.61745	3.305000	0.51873	0.435000	0.26365	0.655000	0.94253	GAC		0.468	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	21	1	0	0.00909568	0.009096	0.00961122	4	21				
TLK1	9874	broad.mit.edu	37	2	172016919	172016919	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:172016919C>G	ENST00000431350.2	-	1	424	c.20G>C	c.(19-21)aGt>aCt	p.S7T	TLK1_ENST00000521943.1_Intron|TLK1_ENST00000442919.2_5'UTR|TLK1_ENST00000360843.3_Missense_Mutation_p.S7T			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	7					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S7T(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CAAACTTCCACTGCTACTTTG	0.677																																							uc002ugn.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(19-21)AGT>ACT		tousled-like kinase 1 isoform 1							64.0	76.0	72.0					2																	172016919		2203	4300	6503	SO:0001583	missense	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:172016919C>G	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.20G>C	2.37:g.172016919C>G	ENSP00000411099:p.Ser7Thr					TLK1_uc002ugo.2_Missense_Mutation_p.S7T|TLK1_uc002ugp.2_Intron|TLK1_uc002ugq.2_RNA	p.S7T	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN			1	492	-			7					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	c.20G>C	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142774	0.57044	.	.	ENSG00000198586	ENST00000431350;ENST00000360843	T;T	0.62639	0.01;0.01	3.46	2.58	0.30949	.	.	.	.	.	T	0.39937	0.1097	N	0.08118	0	0.80722	D	1	B;B	0.20550	0.046;0.005	B;B	0.20767	0.031;0.014	T	0.27905	-1.0060	9	0.87932	D	0	.	8.7068	0.34360	0.0:0.889:0.0:0.111	.	7;7	Q9UKI8-2;Q9UKI8	.;TLK1_HUMAN	T	7	ENSP00000411099:S7T;ENSP00000354089:S7T	ENSP00000352810:S7T	S	-	2	0	TLK1	171725165	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.505000	0.66981	0.675000	0.31264	-0.280000	0.10049	AGT		0.677	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		18	123	0	0	0	0.006122	0	18	123				
DCAF17	80067	broad.mit.edu	37	2	172334560	172334560	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:172334560G>T	ENST00000375255.3	+	12	1573	c.1246G>T	c.(1246-1248)Gat>Tat	p.D416Y	DCAF17_ENST00000468592.1_3'UTR|DCAF17_ENST00000539783.1_Missense_Mutation_p.D349Y	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	416					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.D416Y(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TAACCTTCTGGATGATGACCC	0.368																																							uc002ugx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1246-1248)GAT>TAT		DDB1 and CUL4 associated factor 17 isoform 1							81.0	76.0	78.0					2																	172334560		2203	4300	6503	SO:0001583	missense	80067					CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus		g.chr2:172334560G>T	AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.1246G>T	2.37:g.172334560G>T	ENSP00000364404:p.Asp416Tyr					DCAF17_uc010zdq.1_RNA|DCAF17_uc010fqf.1_Missense_Mutation_p.D349Y|DCAF17_uc010zdr.1_RNA|DCAF17_uc010fqg.2_Missense_Mutation_p.D136Y	p.D416Y	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN			12	1475	+			416					B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	ENST00000375255.3	37	c.1246G>T	CCDS2243.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.275162|4.275162	0.80580|0.80580	.|.	.|.	ENSG00000115827|ENSG00000115827	ENST00000375255;ENST00000539783;ENST00000429466|ENST00000339506;ENST00000431110	T;T|.	0.49432|.	0.78;0.81|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61009|0.61009	0.2313|0.2313	L|L	0.50333|0.50333	1.59|1.59	0.31693|0.31693	N|N	0.641654|0.641654	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.64110|0.64110	-0.6484|-0.6484	10|5	0.39692|.	T|.	0.17|.	-15.8595|-15.8595	18.5639|18.5639	0.91111|0.91111	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	349;416|.	F5H7W1;Q5H9S7|.	.;DCA17_HUMAN|.	Y|C	416;349;166|166;117	ENSP00000364404:D416Y;ENSP00000442238:D349Y|.	ENSP00000364404:D416Y|.	D|W	+|+	1|3	0|0	DCAF17|DCAF17	172042806|172042806	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.390000|9.390000	0.97246|0.97246	2.390000|2.390000	0.81377|0.81377	0.591000|0.591000	0.81541|0.81541	GAT|TGG		0.368	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255342.2	NM_025000		11	22	1	0	9.31168e-06	0.001855	1.13435e-05	11	22				
SLC25A12	8604	broad.mit.edu	37	2	172644379	172644379	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:172644379G>A	ENST00000422440.2	-	16	1701	c.1664C>T	c.(1663-1665)aCg>aTg	p.T555M	SLC25A12_ENST00000392592.4_Missense_Mutation_p.T448M	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	555					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)	p.T555M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	ACTGTATGTCGTCTGGCCAGC	0.557																																							uc002uhh.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1663-1665)ACG>ATG		solute carrier family 25, member 12	L-Aspartic Acid(DB00128)						63.0	63.0	63.0					2																	172644379		2203	4300	6503	SO:0001583	missense	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172644379G>A	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1664C>T	2.37:g.172644379G>A	ENSP00000388658:p.Thr555Met					SLC25A12_uc010fqh.2_Missense_Mutation_p.T448M	p.T555M	NM_003705	NP_003696	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		16	1753	-			555			Solcar 3.		B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.1664C>T	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	G	33	5.283869	0.95489	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.79940	-1.32;-1.32	5.48	5.48	0.80851	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.86117	0.5856	L	0.39085	1.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.966;0.991	D	0.86504	0.1805	10	0.59425	D	0.04	-10.2588	19.7237	0.96153	0.0:0.0:1.0:0.0	.	448;555	B3KR64;O75746	.;CMC1_HUMAN	M	555;448	ENSP00000388658:T555M;ENSP00000376371:T448M	ENSP00000376371:T448M	T	-	2	0	SLC25A12	172352625	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.809000	0.99208	2.729000	0.93468	0.650000	0.86243	ACG		0.557	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		10	75	0	0	0	0.008291	0	10	75				
HOXD3	3232	broad.mit.edu	37	2	177036321	177036321	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:177036321G>T	ENST00000468418.3	+	4	2708	c.618G>T	c.(616-618)ctG>ctT	p.L206L	HOXD3_ENST00000249440.3_Silent_p.L206L|HOXD3_ENST00000410016.1_Silent_p.L206L|HOXD-AS1_ENST00000416928.2_RNA			P31249	HXD3_HUMAN	homeobox D3	206					anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|embryonic skeletal system morphogenesis (GO:0048704)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L206L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCGCGCAGCTGGTGGAATTGG	0.622																																							uc002ukt.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(616-618)CTG>CTT		homeobox D3							60.0	58.0	59.0					2																	177036321		2203	4300	6503	SO:0001819	synonymous_variant	3232				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177036321G>T		CCDS2270.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128652	ENSG00000128652		"""Homeoboxes / ANTP class : HOXL subclass"""	5137	protein-coding gene	gene with protein product		142980	"""homeo box D3"""	HOX4A, HOX4, HOX1D		1973146, 1358459	Standard	NM_006898		Approved		uc002ukt.1	P31249	OTTHUMG00000132517	ENST00000468418.3:c.618G>T	2.37:g.177036321G>T							p.L206L	NM_006898	NP_008829	P31249	HXD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)	3	794	+			206			Homeobox.		Q99955|Q9BSC5	Silent	SNP	ENST00000468418.3	37	c.618G>T	CCDS2270.1																																																																																				0.622	HOXD3-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334246.4			9	67	1	0	1.76689e-08	0.006214	2.40187e-08	9	67				
HNRNPA3	220988	broad.mit.edu	37	2	178081436	178081436	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:178081436C>T	ENST00000392524.2	+	6	913	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	HNRNPA3_ENST00000435711.1_Missense_Mutation_p.R226C|HNRNPA3_ENST00000411529.2_Missense_Mutation_p.R204C			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	226	Gly-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R226C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						TTTTATGGGTCGCGGAGGGAA	0.453																																							uc002ulb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(676-678)CGC>TGC		heterogeneous nuclear ribonucleoprotein A3							133.0	137.0	136.0					2																	178081436		2203	4300	6503	SO:0001583	missense	220988					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:178081436C>T	AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.676C>T	2.37:g.178081436C>T	ENSP00000376309:p.Arg226Cys					HNRNPA3_uc002ulc.1_Missense_Mutation_p.R226C|HNRNPA3_uc002uld.2_Missense_Mutation_p.R204C|HNRNPA3_uc002ule.2_Missense_Mutation_p.R3C	p.R226C	NM_194247	NP_919223	P51991	ROA3_HUMAN			6	782	+			226			Gly-rich.		D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP	ENST00000392524.2	37	c.676C>T	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555808	0.45487	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711;ENST00000432457	D;D;D;D	0.86627	-2.15;-2.15;-2.15;-2.15	4.42	4.42	0.53409	.	0.336347	0.21582	N	0.072232	D	0.87184	0.6114	L	0.35793	1.09	0.51767	D	0.999937	D;D	0.76494	0.999;0.999	P;P	0.53401	0.725;0.725	D	0.86781	0.1979	10	0.37606	T	0.19	.	17.3931	0.87437	0.0:1.0:0.0:0.0	.	204;226	B4DDB6;P51991	.;ROA3_HUMAN	C	226;204;204;204;226;34	ENSP00000376309:R226C;ENSP00000408487:R204C;ENSP00000416340:R226C;ENSP00000400688:R34C	ENSP00000376309:R226C	R	+	1	0	HNRNPA3	177789682	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	2.441000	0.44864	2.197000	0.70478	0.551000	0.68910	CGC		0.453	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3	NM_194247		8	202	0	0	0	0.006214	0	8	202				
TTN	7273	broad.mit.edu	37	2	179411926	179411926	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:179411926G>T	ENST00000591111.1	-	290	89627	c.89403C>A	c.(89401-89403)ggC>ggA	p.G29801G	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.G31442G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.G28874G|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Silent_p.G22502G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.G22569G|TTN_ENST00000460472.2_Silent_p.G22377G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29801	Fibronectin type-III 117. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G28872G(1)|p.G28874G(1)|p.G22377G(1)|p.G22569G(1)|p.G22502G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACCCAGTAGCCAATGATTT	0.443																																							uc010zfg.1		NA																	5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(86620-86622)GGC>GGA		titin isoform N2-A							211.0	213.0	212.0					2																	179411926		1912	4120	6032	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411926G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.89403C>A	2.37:g.179411926G>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G22569G|TTN_uc010zfi.1_Silent_p.G22502G|TTN_uc010zfj.1_Silent_p.G22377G	p.G28874G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		289	86846	-			29801					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.86622C>A																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		48	316	1	0	1.30916e-28	0.00361	2.31656e-28	48	316				
TTN	7273	broad.mit.edu	37	2	179584928	179584928	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:179584928A>G	ENST00000591111.1	-	79	22714	c.22490T>C	c.(22489-22491)tTa>tCa	p.L7497S	TTN_ENST00000589042.1_Missense_Mutation_p.L7814S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L6570S|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13053	Ig-like 57.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L6570S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATGGCCCGTAACTCAACAGC	0.428																																							uc010zfg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(19708-19710)TTA>TCA		titin isoform N2-A							94.0	89.0	90.0					2																	179584928		1857	4105	5962	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179584928A>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.22490T>C	2.37:g.179584928A>G	ENSP00000465570:p.Leu7497Ser					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L3231S	p.L6570S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		78	19933	-			7497					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.19709T>C		.	.	.	.	.	.	.	.	.	.	A	3.757	-0.050301	0.07407	.	.	ENSG00000155657	ENST00000342992	T	0.75477	-0.94	5.91	5.91	0.95273	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90964	0.7159	H	0.98155	4.16	0.80722	D	1	D	0.64830	0.994	D	0.63597	0.916	D	0.94184	0.7434	9	0.87932	D	0	.	16.3364	0.83064	1.0:0.0:0.0:0.0	.	7497	Q8WZ42	TITIN_HUMAN	S	6570	ENSP00000343764:L6570S	ENSP00000343764:L6570S	L	-	2	0	TTN	179293173	0.993000	0.37304	0.368000	0.25939	0.025000	0.11179	9.339000	0.96797	2.252000	0.74401	0.528000	0.53228	TTA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	73	0	0	0	0.009096	0	4	73				
TTN	7273	broad.mit.edu	37	2	179594626	179594626	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:179594626C>A	ENST00000591111.1	-	61	17627	c.17403G>T	c.(17401-17403)agG>agT	p.R5801S	TTN_ENST00000589042.1_Missense_Mutation_p.R6118S|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R4874S|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12603	Ig-like 39.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R4874S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGTCCATTCCTCAGCACTA	0.388																																							uc010zfg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14620-14622)AGG>AGT		titin isoform N2-A							47.0	46.0	46.0					2																	179594626		1876	4116	5992	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594626C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17403G>T	2.37:g.179594626C>A	ENSP00000465570:p.Arg5801Ser					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R1535S	p.R4874S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		60	14846	-			5801					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.14622G>T		.	.	.	.	.	.	.	.	.	.	C	10.97	1.502823	0.26949	.	.	ENSG00000155657	ENST00000342992	T	0.64991	-0.13	5.92	-0.32	0.12721	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.52517	0.1739	L	0.28608	0.87	0.80722	D	1	P	0.36683	0.565	P	0.45276	0.475	T	0.51284	-0.8725	9	0.87932	D	0	.	6.8622	0.24074	0.1087:0.4398:0.0:0.4515	.	5801	Q8WZ42	TITIN_HUMAN	S	4874	ENSP00000343764:R4874S	ENSP00000343764:R4874S	R	-	3	2	TTN	179302871	0.246000	0.23909	0.998000	0.56505	0.989000	0.77384	-0.321000	0.08018	0.076000	0.16826	0.655000	0.94253	AGG		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	36	1	0	7.48243e-07	0.006214	9.59663e-07	9	36				
TTN	7273	broad.mit.edu	37	2	179597036	179597036	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:179597036G>T	ENST00000591111.1	-	55	15933	c.15709C>A	c.(15709-15711)Ctg>Atg	p.L5237M	TTN_ENST00000589042.1_Missense_Mutation_p.L5554M|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L4310M|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12058	Ig-like 33.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L4310M(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTTAACAGCTGTGATGGC	0.388																																							uc010zfg.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12928-12930)CTG>ATG		titin isoform N2-A							114.0	109.0	110.0					2																	179597036		1898	4136	6034	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179597036G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15709C>A	2.37:g.179597036G>T	ENSP00000465570:p.Leu5237Met					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L971M	p.L4310M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		54	13152	-			5237					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.12928C>A		.	.	.	.	.	.	.	.	.	.	G	7.013	0.557145	0.13436	.	.	ENSG00000155657	ENST00000342992	T	0.67345	-0.26	6.17	2.98	0.34508	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.75170	0.3813	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73547	-0.3948	9	0.87932	D	0	.	9.3477	0.38118	0.3284:0.0:0.6716:0.0	.	5237	Q8WZ42	TITIN_HUMAN	M	4310	ENSP00000343764:L4310M	ENSP00000343764:L4310M	L	-	1	2	TTN	179305281	0.949000	0.32298	0.320000	0.25306	0.986000	0.74619	1.583000	0.36579	0.288000	0.22398	-0.345000	0.07892	CTG		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	156	1	0	2.35188e-11	0.006122	3.52276e-11	18	156				
TTN	7273	broad.mit.edu	37	2	179611894	179611894	+	Intron	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:179611894C>G	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.G5078A|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			TAGAGTCTCTCCTGGGGGTGT	0.552																																							uc002unb.2		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.(15232-15234)GGA>GCA		titin isoform novex-3							64.0	71.0	69.0					2																	179611894		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179611894C>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.10361-5246G>C	2.37:g.179611894C>G						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.G5078A	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	15457	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.15233G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.24|15.24	2.775080|2.775080	0.49786|0.49786	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000306136|ENST00000360870	.|T	.|0.68765	.|-0.35	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	.|.	.|.	.|.	.|.	.|T	.|0.79364	.|0.4433	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	.|T	.|0.75499	.|-0.3296	.|9	.|0.33141	.|T	.|0.24	.|.	16.1209|16.1209	0.81357|0.81357	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|5078	.|Q8WZ42-6	.|.	.|A	-1|5078	.|ENSP00000354117:G5078A	.|ENSP00000354117:G5078A	.|G	-|-	.|2	.|0	TTN|TTN	179320139|179320139	0.985000|0.985000	0.35326|0.35326	0.998000|0.998000	0.56505|0.56505	0.990000|0.990000	0.78478|0.78478	2.774000|2.774000	0.47694|0.47694	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	.|GGA		0.552	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		36	84	0	0	0	0.003271	0	36	84				
TTN	7273	broad.mit.edu	37	2	179615813	179615813	+	Intron	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:179615813T>A	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.N3772Y|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			GCATGTGGATTTTGCACAATA	0.348																																							uc002unb.2		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.(11314-11316)AAT>TAT		titin isoform novex-3							110.0	113.0	112.0					2																	179615813		2202	4297	6499	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615813T>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+2037A>T	2.37:g.179615813T>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.N3772Y	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11538	-			9609					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.11314A>T		.	.	.	.	.	.	.	.	.	.	T	15.77	2.930761	0.52866	.	.	ENSG00000155657	ENST00000360870	T	0.59502	0.26	5.05	-0.504	0.11997	.	.	.	.	.	T	0.34890	0.0913	N	0.14661	0.345	0.09310	N	1	P	0.36249	0.545	B	0.34931	0.192	T	0.19192	-1.0313	9	0.59425	D	0.04	.	5.848	0.18677	0.0:0.1573:0.3162:0.5265	.	3772	Q8WZ42-6	.	Y	3772	ENSP00000354117:N3772Y	ENSP00000354117:N3772Y	N	-	1	0	TTN	179324058	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.494000	0.22467	-0.166000	0.10890	-0.250000	0.11733	AAT		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	135	0	0	0	0.008361	0	29	135				
SESTD1	91404	broad.mit.edu	37	2	179986599	179986599	+	Missense_Mutation	SNP	T	T	A	rs146149735	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:179986599T>A	ENST00000428443.3	-	13	1656	c.1340A>T	c.(1339-1341)aAt>aTt	p.N447I		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	447							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.N447I(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGATGCCTGATTGGAGATCTG	0.393																																							uc002uni.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1339-1341)AAT>ATT		SEC14 and spectrin domains 1							109.0	106.0	107.0					2																	179986599		2203	4300	6503	SO:0001583	missense	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:179986599T>A	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.1340A>T	2.37:g.179986599T>A	ENSP00000415332:p.Asn447Ile					SESTD1_uc002unh.3_5'UTR	p.N447I	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		13	1490	-			447			Spectrin 2.		Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	c.1340A>T	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	T	12.65	2.002581	0.35320	.	.	ENSG00000187231	ENST00000428443	T	0.05513	3.43	5.18	5.18	0.71444	.	0.085773	0.85682	D	0.000000	T	0.04452	0.0122	N	0.24115	0.695	0.53688	D	0.999972	P	0.40476	0.718	B	0.30646	0.118	T	0.55218	-0.8175	9	.	.	.	-26.1179	14.5099	0.67776	0.0:0.0:0.0:1.0	.	447	Q86VW0	SESD1_HUMAN	I	447	ENSP00000415332:N447I	.	N	-	2	0	SESTD1	179694844	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.591000	0.53986	2.089000	0.63090	0.383000	0.25322	AAT		0.393	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		10	60	0	0	0	0.006214	0	10	60				
ZNF804A	91752	broad.mit.edu	37	2	185801785	185801785	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:185801785G>T	ENST00000302277.6	+	4	2256	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	554							metal ion binding (GO:0046872)	p.K554N(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTTCCTGTAAGATCAGAGAAA	0.338																																							uc002uph.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(1660-1662)AAG>AAT		zinc finger protein 804A							34.0	38.0	37.0					2																	185801785		2167	4286	6453	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185801785G>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1662G>T	2.37:g.185801785G>T	ENSP00000303252:p.Lys554Asn						p.K554N	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	2256	+			554					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.1662G>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	2.998	-0.206730	0.06180	.	.	ENSG00000170396	ENST00000302277	T	0.05717	3.4	4.97	-3.01	0.05463	.	0.557786	0.16987	N	0.191458	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	B	0.23937	0.094	B	0.18871	0.023	T	0.38243	-0.9670	10	0.42905	T	0.14	-3.791	6.8267	0.23887	0.5835:0.0:0.2937:0.1228	.	554	Q7Z570	Z804A_HUMAN	N	554	ENSP00000303252:K554N	ENSP00000303252:K554N	K	+	3	2	ZNF804A	185510030	0.015000	0.18098	0.002000	0.10522	0.006000	0.05464	-0.098000	0.11024	-0.491000	0.06697	-0.145000	0.13849	AAG		0.338	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		8	80	1	0	0.00307968	0.00308	0.00330101	8	80				
ZC3H15	55854	broad.mit.edu	37	2	187366001	187366001	+	Splice_Site	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:187366001T>G	ENST00000337859.6	+	4	518	c.291T>G	c.(289-291)ggT>ggG	p.G97G	ZC3H15_ENST00000544130.1_Intron|ZC3H15_ENST00000468120.1_3'UTR	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	97					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.G97G(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TTGACATAGGTGCAGATCCCA	0.363																																							uc002upo.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(289-291)GGT>GGG		erythropoietin 4 immediate early response							89.0	83.0	85.0					2																	187366001		1867	4096	5963	SO:0001630	splice_region_variant	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187366001T>G		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.290-1T>G	2.37:g.187366001T>G							p.G97G	NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		4	516	+			97					B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Silent	SNP	ENST00000337859.6	37	c.291T>G	CCDS42791.1																																																																																				0.363	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	NM_018471	Silent	21	53	0	0	0	0.010504	0	21	53				
CALCRL	10203	broad.mit.edu	37	2	188225374	188225374	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:188225374G>T	ENST00000409998.1	-	11	1513	c.732C>A	c.(730-732)gcC>gcA	p.A244A	AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Silent_p.A244A|CALCRL_ENST00000392370.3_Silent_p.A244A|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	244					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)	p.A244A(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CTGCAAACACGGCCACCACAA	0.398																																							uc002upv.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(1)	4						c.(730-732)GCC>GCA		calcitonin receptor-like precursor							94.0	85.0	88.0					2																	188225374		2203	4300	6503	SO:0001819	synonymous_variant	10203					integral to plasma membrane		g.chr2:188225374G>T	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.732C>A	2.37:g.188225374G>T						CALCRL_uc010frt.2_Silent_p.A244A	p.A244A	NM_005795	NP_005786	Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		10	1280	-			244			Cytoplasmic (Potential).		A8K6G5|A8KAD3|Q53S02|Q53TS5	Silent	SNP	ENST00000409998.1	37	c.732C>A	CCDS2293.1																																																																																				0.398	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		9	59	1	0	5.4927e-09	0.004482	7.63566e-09	9	59				
CALCRL	10203	broad.mit.edu	37	2	188245443	188245443	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:188245443G>T	ENST00000409998.1	-	7	1037	c.256C>A	c.(256-258)Cag>Aag	p.Q86K	AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.Q86K|CALCRL_ENST00000392370.3_Missense_Mutation_p.Q86K|AC007319.1_ENST00000453517.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	86					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)	p.Q86K(1)		endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GGGCAGAGCTGCATTGATTCA	0.408																																							uc002upv.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(256-258)CAG>AAG		calcitonin receptor-like precursor							69.0	66.0	67.0					2																	188245443		2203	4300	6503	SO:0001583	missense	10203					integral to plasma membrane		g.chr2:188245443G>T	U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.256C>A	2.37:g.188245443G>T	ENSP00000386972:p.Gln86Lys					CALCRL_uc010frt.2_Missense_Mutation_p.Q86K	p.Q86K	NM_005795	NP_005786	Q16602	CALRL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)		6	804	-			86			Extracellular (Potential).		A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	ENST00000409998.1	37	c.256C>A	CCDS2293.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450173	0.84101	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.63913	-0.07;-0.07;-0.07	5.42	5.42	0.78866	GPCR, family 2, secretin-like, conserved site (1);GPCR, family 2, extracellular hormone receptor domain (3);	0.000000	0.64402	D	0.000009	T	0.66046	0.2750	M	0.73598	2.24	0.80722	D	1	P	0.36144	0.539	B	0.37888	0.26	T	0.69143	-0.5223	10	0.54805	T	0.06	.	16.7568	0.85502	0.0:0.0:1.0:0.0	.	86	Q16602	CALRL_HUMAN	K	86	ENSP00000376177:Q86K;ENSP00000386972:Q86K;ENSP00000387190:Q86K	ENSP00000376177:Q86K	Q	-	1	0	CALCRL	187953688	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.255000	0.78338	2.820000	0.97059	0.650000	0.86243	CAG		0.408	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334648.1	NM_005795		4	59	1	0	0.00024832	0.009096	0.000277565	4	59				
DIRC1	116093	broad.mit.edu	37	2	189599405	189599405	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:189599405C>T	ENST00000308100.4	-	2	513	c.243G>A	c.(241-243)ttG>ttA	p.L81L	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	81								p.L81L(1)		large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			TCACAGTATTCAATTCAGACC	0.403																																							uc002uqi.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(241-243)TTG>TTA		disrupted in renal carcinoma 1							156.0	158.0	157.0					2																	189599405		2203	4300	6503	SO:0001819	synonymous_variant	116093							g.chr2:189599405C>T	AY039011	CCDS2296.1	2q33	2008-05-22			ENSG00000174325	ENSG00000174325			15760	protein-coding gene	gene with protein product		606423				11587072	Standard	NM_052952		Approved		uc002uqi.1	Q969H9	OTTHUMG00000132646	ENST00000308100.4:c.243G>A	2.37:g.189599405C>T							p.L81L	NM_052952	NP_443184	Q969H9	DIRC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)		2	514	-			81					Q08AK1	Silent	SNP	ENST00000308100.4	37	c.243G>A	CCDS2296.1																																																																																				0.403	DIRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255897.2	NM_052952		6	144	0	0	0	0.001168	0	6	144				
C2orf88	84281	broad.mit.edu	37	2	190788486	190788486	+	Intron	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:190788486C>A	ENST00000478197.1	+	1	219							Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88							plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						GCTGTAGTGCCCTCGAAACGT	0.483																																							uc002uro.2		NA																	0					NA						c.(424-426)CCC>CAC		SubName: Full=cDNA FLJ54127, highly similar to Heterogeneous nuclear ribonucleoproteins C;																																				SO:0001627	intron_variant	0							g.chr2:190788486C>A	BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"""small membrane AKAP"""	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000478197.1:c.219+43933C>A	2.37:g.190788486C>A							p.P142H							1	568	+								D3DPI3|P0C876|Q53TC7	Missense_Mutation	SNP	ENST00000478197.1	37	c.425C>A																																																																																					0.483	C2orf88-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000334952.1	NM_032321		52	140	1	0	3.86236e-30	0.00361	6.85766e-30	52	140				
GLS	2744	broad.mit.edu	37	2	191792198	191792198	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:191792198T>G	ENST00000320717.3	+	12	1673	c.1415T>G	c.(1414-1416)tTt>tGt	p.F472C	GLS_ENST00000338435.4_Missense_Mutation_p.F472C|GLS_ENST00000409428.1_5'Flank|GLS_ENST00000409215.1_5'Flank|GLS_ENST00000409626.1_Missense_Mutation_p.F43C	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	472					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)	p.F472C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	TCAGGGCAGTTTGCTTTCCAT	0.383																																							uc002usf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1414-1416)TTT>TGT		glutaminase precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						120.0	119.0	119.0					2																	191792198		2203	4300	6503	SO:0001583	missense	2744				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	g.chr2:191792198T>G	AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1415T>G	2.37:g.191792198T>G	ENSP00000317379:p.Phe472Cys					GLS_uc002use.2_Missense_Mutation_p.F472C|GLS_uc002usg.1_Missense_Mutation_p.F133C|GLS_uc002ush.2_Missense_Mutation_p.F133C|GLS_uc010zgi.1_Missense_Mutation_p.F43C|GLS_uc010zgj.1_5'Flank	p.F472C	NM_014905	NP_055720	O94925	GLSK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		12	1679	+			472					Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	c.1415T>G	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.370187	0.82573	.	.	ENSG00000115419	ENST00000320717;ENST00000338435;ENST00000409626;ENST00000457316	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.4	5.4	0.78164	Beta-lactamase/transpeptidase-like (1);	0.047482	0.85682	D	0.000000	D	0.85375	0.5682	H	0.98507	4.25	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.997;0.999;0.997;0.999;0.998	D	0.91127	0.4934	10	0.87932	D	0	-21.961	15.5855	0.76479	0.0:0.0:0.0:1.0	.	43;472;126;472;472	B7Z2P1;A8K132;Q68D38;O94925;O94925-3	.;.;.;GLSK_HUMAN;.	C	472;472;43;43	ENSP00000317379:F472C;ENSP00000340689:F472C;ENSP00000386417:F43C;ENSP00000395596:F43C	ENSP00000317379:F472C	F	+	2	0	GLS	191500443	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.254000	0.74563	0.528000	0.53228	TTT		0.383	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			15	68	0	0	0	0.006122	0	15	68				
DNAH7	56171	broad.mit.edu	37	2	196740521	196740521	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:196740521C>A	ENST00000312428.6	-	38	6264	c.6164G>T	c.(6163-6165)gGg>gTg	p.G2055V		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2055	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.G2055V(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGTTGAGCCCCATATACCTC	0.403																																							uc002utj.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(6163-6165)GGG>GTG		dynein, axonemal, heavy chain 7							103.0	95.0	97.0					2																	196740521		1879	4105	5984	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196740521C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6164G>T	2.37:g.196740521C>A	ENSP00000311273:p.Gly2055Val						p.G2055V	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			38	6265	-			2055			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6164G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.661869	0.88251	.	.	ENSG00000118997	ENST00000312428	T	0.55930	0.49	5.03	5.03	0.67393	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.82857	0.5128	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89107	0.3493	10	0.87932	D	0	.	18.1464	0.89656	0.0:1.0:0.0:0.0	.	2055	Q8WXX0	DYH7_HUMAN	V	2055	ENSP00000311273:G2055V	ENSP00000311273:G2055V	G	-	2	0	DNAH7	196448766	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.361000	0.79497	2.620000	0.88729	0.655000	0.94253	GGG		0.403	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		21	60	1	0	1.22574e-08	0.002299	1.69493e-08	21	60				
RFTN2	130132	broad.mit.edu	37	2	198436887	198436887	+	Missense_Mutation	SNP	G	G	T	rs138418206		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:198436887G>T	ENST00000295049.4	-	9	1887	c.1351C>A	c.(1351-1353)Cgc>Agc	p.R451S		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	451					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)		p.R451S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GGAGAAAGGCGGCACTCCTCA	0.532																																							uc002uuo.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1351-1353)CGC>AGC		raftlin family member 2							194.0	159.0	171.0					2																	198436887		2203	4300	6503	SO:0001583	missense	130132					plasma membrane		g.chr2:198436887G>T	AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.1351C>A	2.37:g.198436887G>T	ENSP00000295049:p.Arg451Ser						p.R451S	NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN			9	1753	-			451					Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	c.1351C>A	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252413	0.22880	.	.	ENSG00000162944	ENST00000295049;ENST00000454447	T;T	0.41400	1.0;1.02	4.84	-0.164	0.13359	.	2.255570	0.01628	N	0.023413	T	0.20981	0.0505	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13098	-1.0522	10	0.09084	T	0.74	3.9967	4.8376	0.13473	0.3005:0.0:0.5623:0.1372	.	451	Q52LD8	RFTN2_HUMAN	S	451;143	ENSP00000295049:R451S;ENSP00000387459:R143S	ENSP00000295049:R451S	R	-	1	0	RFTN2	198145132	0.249000	0.23941	0.006000	0.13384	0.316000	0.28119	1.617000	0.36943	-0.226000	0.09899	0.561000	0.74099	CGC		0.532	RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629		13	101	1	0	0.00010058	0.001368	0.000115011	13	101				
CASP10	843	broad.mit.edu	37	2	202050751	202050751	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:202050751A>G	ENST00000272879.5	+	2	435	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	CASP10_ENST00000313728.7_Missense_Mutation_p.Y84C|CASP10_ENST00000374650.3_Missense_Mutation_p.Y84C|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000346817.5_Missense_Mutation_p.Y84C|CASP10_ENST00000286186.6_Missense_Mutation_p.Y84C|CASP10_ENST00000360132.3_Missense_Mutation_p.Y84C|CASP10_ENST00000448480.1_Missense_Mutation_p.Y84C	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	84	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)	p.Y84C(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GAACTCCTCTATATCATACGG	0.507																																							uc002uxl.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)|pancreas(1)|breast(1)	6						c.(250-252)TAT>TGT		caspase 10 isoform b preproprotein							55.0	58.0	57.0					2																	202050751		2203	4300	6503	SO:0001583	missense	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202050751A>G	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.251A>G	2.37:g.202050751A>G	ENSP00000272879:p.Tyr84Cys					CASP10_uc002uxi.1_Missense_Mutation_p.Y84C|CASP10_uc010zhn.1_RNA|CASP10_uc002uxj.1_Missense_Mutation_p.Y84C|CASP10_uc002uxk.1_Missense_Mutation_p.Y84C|CASP10_uc010fta.1_Missense_Mutation_p.Y84C|CASP10_uc002uxm.1_Missense_Mutation_p.Y84C|CASP10_uc010ftb.1_RNA	p.Y84C	NM_032974	NP_116756	Q92851	CASPA_HUMAN			2	669	+			84			DED 1.		Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	c.251A>G	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.719245	0.48728	.	.	ENSG00000003400	ENST00000286186;ENST00000360132;ENST00000272879;ENST00000374650;ENST00000346817;ENST00000313728;ENST00000448480	D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.13	-0.706	0.11249	DEATH-like (2);Death effector (3);	0.792019	0.12001	N	0.508855	D	0.87649	0.6230	M	0.74258	2.255	0.09310	N	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.80764	0.927;0.984;0.994;0.971;0.957;0.981	T	0.75806	-0.3188	10	0.87932	D	0	.	5.1274	0.14892	0.4965:0.0:0.0807:0.4228	.	84;84;84;84;84;84	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4;Q68HC0	.;.;CASPA_HUMAN;.;.;.	C	84	ENSP00000286186:Y84C;ENSP00000353250:Y84C;ENSP00000272879:Y84C;ENSP00000363781:Y84C;ENSP00000237865:Y84C;ENSP00000314599:Y84C;ENSP00000396835:Y84C	ENSP00000272879:Y84C	Y	+	2	0	CASP10	201758996	0.086000	0.21541	0.007000	0.13788	0.002000	0.02628	0.654000	0.24918	0.025000	0.15241	-0.333000	0.08304	TAT		0.507	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		12	54	0	0	0	0.00245	0	12	54				
CASP10	843	broad.mit.edu	37	2	202074230	202074230	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:202074230G>C	ENST00000272879.5	+	9	1544	c.1360G>C	c.(1360-1362)Gaa>Caa	p.E454Q	CASP10_ENST00000313728.7_Missense_Mutation_p.E387Q|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000346817.5_Missense_Mutation_p.E411Q|CASP10_ENST00000286186.6_Missense_Mutation_p.E454Q|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000448480.1_Missense_Mutation_p.E411Q	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	454					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)	p.E454Q(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GCATGTGGAGGAAGGCAGCTG	0.463																																							uc002uxl.1		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)|pancreas(1)|breast(1)	6						c.(1360-1362)GAA>CAA		caspase 10 isoform b preproprotein							97.0	95.0	96.0					2																	202074230		2203	4300	6503	SO:0001583	missense	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202074230G>C	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.1360G>C	2.37:g.202074230G>C	ENSP00000272879:p.Glu454Gln					CASP10_uc002uxj.1_Missense_Mutation_p.E454Q|CASP10_uc002uxk.1_Missense_Mutation_p.E411Q|CASP10_uc010fta.1_Missense_Mutation_p.E387Q|CASP10_uc002uxm.1_Missense_Mutation_p.E411Q|CASP10_uc010ftb.1_RNA	p.E454Q	NM_032974	NP_116756	Q92851	CASPA_HUMAN			9	1778	+			454					Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	ENST00000272879.5	37	c.1360G>C	CCDS2338.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.674056	0.29693	.	.	ENSG00000003400	ENST00000286186;ENST00000272879;ENST00000346817;ENST00000313728;ENST00000448480	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	4.91	-7.2	0.01495	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	1.014980	0.07865	N	0.966971	T	0.16727	0.0402	L	0.37850	1.14	0.09310	N	1	B;B;P;B;B	0.45531	0.046;0.314;0.86;0.313;0.099	B;B;P;B;B	0.47075	0.036;0.173;0.536;0.14;0.067	T	0.13575	-1.0504	10	0.23891	T	0.37	.	8.3405	0.32241	0.4793:0.2482:0.2725:0.0	.	387;411;454;411;454	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4	.;.;CASPA_HUMAN;.;.	Q	454;454;411;387;411	ENSP00000286186:E454Q;ENSP00000272879:E454Q;ENSP00000237865:E411Q;ENSP00000314599:E387Q;ENSP00000396835:E411Q	ENSP00000272879:E454Q	E	+	1	0	CASP10	201782475	0.000000	0.05858	0.000000	0.03702	0.488000	0.33401	-1.319000	0.02702	-1.253000	0.02488	-0.145000	0.13849	GAA		0.463	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	NM_032977		14	112	0	0	0	0.00499	0	14	112				
CTLA4	1493	broad.mit.edu	37	2	204736146	204736146	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:204736146C>A	ENST00000302823.3	+	3	660	c.503C>A	c.(502-504)gCa>gAa	p.A168E	CTLA4_ENST00000427473.2_Intron|CTLA4_ENST00000295854.6_Intron|CTLA4_ENST00000487393.1_Intron|CTLA4_ENST00000472206.1_Intron	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	168					B cell receptor signaling pathway (GO:0050853)|cellular response to DNA damage stimulus (GO:0006974)|immune response (GO:0006955)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of immune response (GO:0050777)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of apoptotic process (GO:0043065)|T cell costimulation (GO:0031295)	clathrin-coated endocytic vesicle (GO:0045334)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.A168E(1)		large_intestine(4)|lung(4)|skin(1)	9					Ipilimumab(DB06186)	TGGATCCTTGCAGCAGTTAGT	0.478																																							uc002vak.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(502-504)GCA>GAA		cytotoxic T-lymphocyte-associated protein 4	Abatacept(DB01281)						206.0	193.0	197.0					2																	204736146		2203	4300	6503	SO:0001583	missense	1493				B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm		g.chr2:204736146C>A		CCDS2362.1, CCDS42803.1	2q33	2014-02-03			ENSG00000163599	ENSG00000163599		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	2505	protein-coding gene	gene with protein product		123890	"""celiac disease 3"", ""insulin-dependent diabetes mellitus 12"""	CELIAC3, IDDM12		3220103, 8817351	Standard	NM_005214		Approved	CD152, CD, GSE, CD28, ICOS	uc002vak.2	P16410	OTTHUMG00000132877	ENST00000302823.3:c.503C>A	2.37:g.204736146C>A	ENSP00000303939:p.Ala168Glu					CTLA4_uc002val.1_Intron|CTLA4_uc010fty.1_Intron|CTLA4_uc010ftz.1_Intron	p.A168E	NM_005214	NP_005205	P16410	CTLA4_HUMAN			3	660	+			168			Helical; (Potential).		A0N1S0|E9PDH0|O95653|Q0PP65|Q52MC1|Q53TD5|Q5S005|Q8WXJ1|Q96P43|Q9UKN9	Missense_Mutation	SNP	ENST00000302823.3	37	c.503C>A	CCDS2362.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460998	0.43736	.	.	ENSG00000163599	ENST00000302823	T	0.32988	1.43	5.42	4.53	0.55603	.	0.315023	0.29853	N	0.011033	T	0.20981	0.0505	N	0.19112	0.55	0.80722	D	1	P	0.47677	0.899	B	0.43916	0.436	T	0.03025	-1.1081	10	0.66056	D	0.02	-7.4466	6.536	0.22355	0.0:0.676:0.1601:0.1639	.	168	P16410	CTLA4_HUMAN	E	168	ENSP00000303939:A168E	ENSP00000303939:A168E	A	+	2	0	CTLA4	204444391	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	1.991000	0.40727	1.271000	0.44313	0.650000	0.86243	GCA		0.478	CTLA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256365.1	NM_005214		10	218	1	0	3.86212e-05	0.008291	4.51013e-05	10	218				
PIKFYVE	200576	broad.mit.edu	37	2	209188940	209188940	+	Silent	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:209188940A>T	ENST00000264380.4	+	18	2423	c.2265A>T	c.(2263-2265)acA>acT	p.T755T		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	755					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.T755T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGAGAAAACAGTGTCTCGGA	0.338																																							uc002vcz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(2263-2265)ACA>ACT		phosphatidylinositol-3-phosphate 5-kinase type							175.0	167.0	170.0					2																	209188940		2203	4300	6503	SO:0001819	synonymous_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209188940A>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2265A>T	2.37:g.209188940A>T						PIKFYVE_uc010fun.1_Silent_p.T436T|PIKFYVE_uc002vcy.1_Silent_p.T699T	p.T755T	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			18	2423	+			755					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	c.2265A>T	CCDS2382.1																																																																																				0.338	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		6	145	0	0	0	0.001984	0	6	145				
PTH2R	5746	broad.mit.edu	37	2	209307110	209307110	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:209307110T>A	ENST00000272847.2	+	5	646	c.433T>A	c.(433-435)Tat>Aat	p.Y145N	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	145					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)	p.Y145N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TGAACGCCTCTATGTAATGTA	0.398																																							uc002vdb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(433-435)TAT>AAT		parathyroid hormone 2 receptor precursor							379.0	327.0	345.0					2																	209307110		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209307110T>A	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.433T>A	2.37:g.209307110T>A	ENSP00000272847:p.Tyr145Asn					PTH2R_uc010zjb.1_Missense_Mutation_p.Y156N	p.Y145N	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	5	646	+			145			Extracellular (Potential).		Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.433T>A	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.294805	0.23564	.	.	ENSG00000144407	ENST00000272847	T	0.37584	1.19	5.38	4.23	0.50019	GPCR, family 2-like (1);	0.158635	0.28182	U	0.016297	T	0.35856	0.0946	L	0.48174	1.505	0.20764	N	0.999853	B;P	0.41188	0.436;0.741	B;P	0.45610	0.315;0.487	T	0.12041	-1.0563	10	0.32370	T	0.25	.	9.3596	0.38188	0.0:0.0855:0.0:0.9145	.	34;145	B4DFN8;P49190	.;PTH2R_HUMAN	N	145	ENSP00000272847:Y145N	ENSP00000272847:Y145N	Y	+	1	0	PTH2R	209015355	0.011000	0.17503	0.868000	0.34077	0.144000	0.21451	0.743000	0.26231	0.887000	0.36136	0.533000	0.62120	TAT		0.398	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		60	196	0	0	0	0.00361	0	60	196				
ABCA12	26154	broad.mit.edu	37	2	215890417	215890417	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:215890417G>T	ENST00000272895.7	-	11	1486	c.1267C>A	c.(1267-1269)Cct>Act	p.P423T	AC072062.3_ENST00000419251.1_RNA|AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.P105T|AC072062.3_ENST00000595058.1_RNA|AC072062.3_ENST00000602182.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	423					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.P423T(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGGACTTCAGGAACTGGAGGA	0.299																																					Ovarian(66;664 1488 5121 34295)	Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(1267-1269)CCT>ACT		ATP-binding cassette, sub-family A, member 12							71.0	73.0	73.0					2																	215890417		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215890417G>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1267C>A	2.37:g.215890417G>T	ENSP00000272895:p.Pro423Thr					ABCA12_uc002vev.2_Missense_Mutation_p.P105T|ABCA12_uc010zjn.1_5'UTR	p.P423T	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)	11	1487	-		Renal(323;0.127)	423					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.1267C>A	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881917	0.33255	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.51817	0.69;0.69	5.83	3.69	0.42338	.	0.397790	0.24087	N	0.041674	T	0.28599	0.0708	N	0.19112	0.55	0.80722	D	1	B;B	0.24132	0.059;0.098	B;B	0.26770	0.033;0.073	T	0.05835	-1.0861	10	0.15066	T	0.55	.	8.1282	0.31012	0.0948:0.1647:0.7405:0.0	.	423;105	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	423;105	ENSP00000272895:P423T;ENSP00000374312:P105T	ENSP00000272895:P423T	P	-	1	0	ABCA12	215598662	1.000000	0.71417	0.997000	0.53966	0.925000	0.55904	0.466000	0.22019	1.440000	0.47531	-0.305000	0.09177	CCT		0.299	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		13	84	1	0	3.45872e-05	0.004007	4.1033e-05	13	84				
FN1	2335	broad.mit.edu	37	2	216272028	216272028	+	Silent	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:216272028A>G	ENST00000359671.1	-	18	2800	c.2535T>C	c.(2533-2535)taT>taC	p.Y845Y	FN1_ENST00000346544.3_Silent_p.Y845Y|FN1_ENST00000357867.4_Silent_p.Y845Y|FN1_ENST00000345488.5_Silent_p.Y845Y|FN1_ENST00000446046.1_Silent_p.Y845Y|FN1_ENST00000357009.2_Silent_p.Y845Y|FN1_ENST00000421182.1_Silent_p.Y845Y|FN1_ENST00000356005.4_Silent_p.Y845Y|FN1_ENST00000354785.4_Silent_p.Y845Y|FN1_ENST00000336916.4_Silent_p.Y845Y|FN1_ENST00000432072.2_Silent_p.Y845Y|FN1_ENST00000323926.6_Silent_p.Y845Y|FN1_ENST00000443816.1_Silent_p.Y845Y			P02751	FINC_HUMAN	fibronectin 1	845	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.Y845Y(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CTGATGGCGAATAGACTATTC	0.428																																							uc002vfa.2		NA																	2	Substitution - coding silent(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(2533-2535)TAT>TAC		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						180.0	171.0	174.0					2																	216272028		2203	4300	6503	SO:0001819	synonymous_variant	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216272028A>G		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.2535T>C	2.37:g.216272028A>G						FN1_uc002vfb.2_Silent_p.Y845Y|FN1_uc002vfc.2_Silent_p.Y845Y|FN1_uc002vfd.2_Silent_p.Y845Y|FN1_uc002vfe.2_Silent_p.Y845Y|FN1_uc002vff.2_Silent_p.Y845Y|FN1_uc002vfg.2_Silent_p.Y845Y|FN1_uc002vfh.2_Silent_p.Y845Y|FN1_uc002vfi.2_Silent_p.Y845Y|FN1_uc002vfj.2_Silent_p.Y845Y	p.Y845Y	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	18	2801	-		Renal(323;0.127)	845			Fibronectin type-III 3.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Silent	SNP	ENST00000359671.1	37	c.2535T>C																																																																																					0.428	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		13	133	0	0	0	0.004007	0	13	133				
MREG	55686	broad.mit.edu	37	2	216861126	216861126	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:216861126C>G	ENST00000263268.6	-	2	453	c.158G>C	c.(157-159)tGg>tCg	p.W53S		NM_018000.2	NP_060470.2	Q8N565	MREG_HUMAN	melanoregulin	53						plasma membrane (GO:0005886)		p.W53S(1)		large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		GGGCATACTCCATAAATTCTT	0.418																																							uc002vfo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(157-159)TGG>TCG		whn-dependent transcript 2							133.0	130.0	131.0					2																	216861126		1891	4124	6015	SO:0001583	missense	55686					apical plasma membrane		g.chr2:216861126C>G	AK000978	CCDS46513.1	2q35	2013-09-27			ENSG00000118242	ENSG00000118242			25478	protein-coding gene	gene with protein product		609207				19240024, 22275436	Standard	NM_018000		Approved	FLJ10116, DSU, WDT2	uc002vfo.3	Q8N565	OTTHUMG00000154828	ENST00000263268.6:c.158G>C	2.37:g.216861126C>G	ENSP00000263268:p.Trp53Ser					PECR_uc010zjq.1_RNA|MREG_uc002vfq.2_RNA	p.W53S	NM_018000	NP_060470	Q8N565	MREG_HUMAN		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)	2	454	-		Renal(323;0.0328)	53					Q53R89|Q53TC1|Q5XKB6|Q9NWC9|Q9P1S1	Missense_Mutation	SNP	ENST00000263268.6	37	c.158G>C	CCDS46513.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008517	0.75046	.	.	ENSG00000118242	ENST00000236976;ENST00000263268	T	0.70631	-0.5	5.3	5.3	0.74995	.	0.115933	0.64402	D	0.000006	D	0.82365	0.5021	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.83606	0.0131	10	0.87932	D	0	-15.6437	16.501	0.84256	0.0:1.0:0.0:0.0	.	53	Q8N565	MREG_HUMAN	S	53	ENSP00000263268:W53S	ENSP00000236976:W53S	W	-	2	0	MREG	216569371	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.147000	0.58078	2.759000	0.94783	0.557000	0.71058	TGG		0.418	MREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337297.1	NM_018000		7	110	0	0	0	0.001984	0	7	110				
TMEM169	92691	broad.mit.edu	37	2	216960771	216960771	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:216960771C>T	ENST00000295658.4	+	2	292	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	TMEM169_ENST00000437356.2_Silent_p.L29L|TMEM169_ENST00000406027.2_Silent_p.L29L|TMEM169_ENST00000454545.1_Silent_p.L29L	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	29						integral component of membrane (GO:0016021)		p.L29L(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGCTGCCCTGGCGCTGGA	0.557																																							uc010zjr.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(85-87)CTG>TTG		transmembrane protein 169							44.0	48.0	46.0					2																	216960771		2203	4300	6503	SO:0001819	synonymous_variant	92691					integral to membrane		g.chr2:216960771C>T	AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.85C>T	2.37:g.216960771C>T						TMEM169_uc010zjs.1_Silent_p.L29L|TMEM169_uc002vfw.2_Silent_p.L29L|TMEM169_uc002vfv.3_Silent_p.L29L	p.L29L	NM_001142310	NP_001135782	Q96HH4	TM169_HUMAN		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	411	+		Renal(323;0.0651)	29			Extracellular (Potential).		B2R8W6	Silent	SNP	ENST00000295658.4	37	c.85C>T	CCDS2401.1																																																																																				0.557	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256666.2	NM_138390		20	54	0	0	0	0.007413	0	20	54				
TNS1	7145	broad.mit.edu	37	2	218695090	218695090	+	Splice_Site	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:218695090C>T	ENST00000171887.4	-	21	3474	c.3022G>A	c.(3022-3024)Gag>Aag	p.E1008K	TNS1_ENST00000419504.1_Splice_Site_p.E1008K|TNS1_ENST00000430930.1_Intron	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1008					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.E1008K(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCCCACCTACCTGGCTGGATC	0.567																																							uc002vgt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(3022-3024)GAG>AAG		tensin							83.0	72.0	75.0					2																	218695090		2203	4300	6503	SO:0001630	splice_region_variant	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218695090C>T	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3022+1G>A	2.37:g.218695090C>T						TNS1_uc002vgr.2_Missense_Mutation_p.E1008K|TNS1_uc002vgs.2_Intron|TNS1_uc010zjv.1_Intron	p.E1008K	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	21	3420	-		Renal(207;0.0483)|Lung NSC(271;0.213)	1008					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.3022G>A	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772386	0.31411	.	.	ENSG00000079308	ENST00000171887;ENST00000419504	D;D	0.92545	-2.87;-3.06	4.4	4.4	0.53042	.	1.274970	0.05414	N	0.543059	D	0.85856	0.5794	N	0.08118	0	0.80722	D	1	B;P	0.40360	0.079;0.714	B;B	0.41236	0.01;0.351	T	0.74390	-0.3681	9	.	.	.	.	12.6731	0.56878	0.0:1.0:0.0:0.0	.	1008;1008	Q9HBL0;E9PF55	TENS1_HUMAN;.	K	1008	ENSP00000171887:E1008K;ENSP00000408724:E1008K	.	E	-	1	0	TNS1	218403335	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	3.229000	0.51278	2.427000	0.82271	0.655000	0.94253	GAG		0.567	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	Missense_Mutation	14	40	0	0	0	0.003163	0	14	40				
WNT10A	80326	broad.mit.edu	37	2	219754887	219754887	+	Missense_Mutation	SNP	G	G	T	rs370231674		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:219754887G>T	ENST00000258411.3	+	3	1191	c.558G>T	c.(556-558)aaG>aaT	p.K186N		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	186					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.K186N(1)		breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCGTGGTAAGGGCCTGAGCC	0.672																																							uc002vjd.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(556-558)AAG>AAT		wingless-type MMTV integration site family,							46.0	43.0	44.0					2																	219754887		2203	4300	6503	SO:0001583	missense	80326				anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr2:219754887G>T	AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"""Wingless-type MMTV integration sites"""	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.558G>T	2.37:g.219754887G>T	ENSP00000258411:p.Lys186Asn						p.K186N	NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	1021	+		Renal(207;0.0474)	186					Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	37	c.558G>T	CCDS2426.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480600	0.63849	.	.	ENSG00000135925	ENST00000258411	T	0.76709	-1.04	4.46	3.52	0.40303	.	3.021880	0.01593	N	0.021651	T	0.76572	0.4006	L	0.53249	1.67	0.80722	D	1	B	0.33448	0.412	B	0.34242	0.178	T	0.64028	-0.6503	10	0.62326	D	0.03	.	7.9221	0.29852	0.2257:0.0:0.7743:0.0	.	186	Q9GZT5	WN10A_HUMAN	N	186	ENSP00000258411:K186N	ENSP00000258411:K186N	K	+	3	2	WNT10A	219463131	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	0.569000	0.23638	1.142000	0.42291	-0.345000	0.07892	AAG		0.672	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216		7	46	1	0	8.12818e-05	0.001984	9.32508e-05	7	46				
PTPRN	5798	broad.mit.edu	37	2	220164863	220164863	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:220164863G>T	ENST00000295718.2	-	9	1520	c.1280C>A	c.(1279-1281)cCt>cAt	p.P427H	PTPRN_ENST00000409251.3_Missense_Mutation_p.P427H|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.P337H	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	427					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P427H(1)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGAGGAGACAGGGCTTGGCAC	0.637																																							uc002vkz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1279-1281)CCT>CAT		protein tyrosine phosphatase, receptor type, N							72.0	82.0	79.0					2																	220164863		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220164863G>T		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1280C>A	2.37:g.220164863G>T	ENSP00000295718:p.Pro427His					PTPRN_uc010zlc.1_Missense_Mutation_p.P337H|PTPRN_uc002vla.2_Missense_Mutation_p.P427H	p.P427H	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	9	1369	-		Renal(207;0.0474)	427			Extracellular (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.1280C>A	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	G	7.800	0.713378	0.15306	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.22945	1.93;1.93;1.93	4.27	3.34	0.38264	.	0.220867	0.26207	N	0.025718	T	0.17831	0.0428	N	0.24115	0.695	0.09310	N	1	B;B	0.33448	0.214;0.412	B;B	0.37833	0.135;0.259	T	0.13072	-1.0523	10	0.66056	D	0.02	.	7.4342	0.27145	0.0:0.1543:0.6104:0.2353	.	427;427	Q6NSL1;Q16849	.;PTPRN_HUMAN	H	427;427;427;337	ENSP00000386638:P427H;ENSP00000295718:P427H;ENSP00000444244:P337H	ENSP00000295718:P427H	P	-	2	0	PTPRN	219873107	0.013000	0.17824	0.137000	0.22149	0.108000	0.19459	1.847000	0.39299	2.193000	0.70182	0.561000	0.74099	CCT		0.637	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			17	99	1	0	1.33834e-09	0.007413	1.8984e-09	17	99				
STK11IP	114790	broad.mit.edu	37	2	220473845	220473845	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:220473845C>T	ENST00000456909.1	+	16	1926	c.1836C>T	c.(1834-1836)ccC>ccT	p.P612P	STK11IP_ENST00000295641.10_Silent_p.P623P			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	623					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)	p.P623P(1)|p.P612P(1)|p.P588P(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGAGCCCCCATCCTCAGTC	0.627																																							uc002vml.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(1867-1869)CCC>CCT		LKB1 interacting protein							41.0	42.0	42.0					2																	220473845		2054	4182	6236	SO:0001819	synonymous_variant	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220473845C>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1836C>T	2.37:g.220473845C>T						STK11IP_uc010zll.1_Silent_p.P580P|STK11IP_uc002vmm.1_Silent_p.P612P	p.P623P	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	16	1912	+		Renal(207;0.0183)	623					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Silent	SNP	ENST00000456909.1	37	c.1869C>T																																																																																					0.627	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		7	4	0	0	0	0.006214	0	7	4				
STK11IP	114790	broad.mit.edu	37	2	220477938	220477938	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:220477938G>T	ENST00000456909.1	+	20	2618	c.2528G>T	c.(2527-2529)gGg>gTg	p.G843V	STK11IP_ENST00000295641.10_Missense_Mutation_p.G854V			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	854					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)	p.G843V(1)|p.G854V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		Aaggtgactggggagatgcgg	0.617																																							uc002vml.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2560-2562)GGG>GTG		LKB1 interacting protein							70.0	71.0	71.0					2																	220477938		2021	4181	6202	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220477938G>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.2528G>T	2.37:g.220477938G>T	ENSP00000389383:p.Gly843Val						p.G854V	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	20	2604	+		Renal(207;0.0183)	854					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.2561G>T		.	.	.	.	.	.	.	.	.	.	g	9.562	1.118853	0.20877	.	.	ENSG00000144589	ENST00000456909;ENST00000295641	T;T	0.07908	3.15;3.15	3.68	2.79	0.32731	.	0.219510	0.40064	N	0.001198	T	0.18045	0.0433	M	0.71581	2.175	0.58432	D	0.999999	D	0.54207	0.965	P	0.54026	0.74	T	0.00827	-1.1550	10	0.87932	D	0	-27.7788	9.2801	0.37722	0.0:0.2205:0.7795:0.0	.	854	Q8N1F8	S11IP_HUMAN	V	843;854	ENSP00000389383:G843V;ENSP00000295641:G854V	ENSP00000295641:G854V	G	+	2	0	STK11IP	220186182	0.991000	0.36638	0.810000	0.32431	0.014000	0.08584	1.435000	0.34969	0.889000	0.36185	-0.501000	0.04562	GGG		0.617	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		20	37	1	0	4.96729e-08	0.008871	6.66562e-08	20	37				
SPHKAP	80309	broad.mit.edu	37	2	228846568	228846568	+	Missense_Mutation	SNP	A	A	T	rs536679519		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:228846568A>T	ENST00000392056.3	-	12	5014	c.4968T>A	c.(4966-4968)gaT>gaA	p.D1656E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1627E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1656						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.D1675E(1)|p.D1656E(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTGCACGACATCTAGAAACT	0.502																																							uc002vpq.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(4966-4968)GAT>GAA		sphingosine kinase type 1-interacting protein							71.0	67.0	69.0					2																	228846568		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228846568A>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4968T>A	2.37:g.228846568A>T	ENSP00000375909:p.Asp1656Glu					SPHKAP_uc002vpp.2_Missense_Mutation_p.D1627E|SPHKAP_uc010zlx.1_3'UTR	p.D1656E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	12	5015	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1656					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4968T>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	A	10.58	1.389924	0.25118	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.05580	3.42;3.42	5.85	4.7	0.59300	A-kinase anchor 110kDa, C-terminal (1);	0.165850	0.53938	D	0.000046	T	0.06690	0.0171	N	0.25647	0.755	0.38879	D	0.956872	D;P	0.52996	0.957;0.89	P;P	0.52823	0.71;0.6	T	0.44651	-0.9314	10	0.07644	T	0.81	.	6.4176	0.21725	0.7877:0.0:0.0734:0.1389	.	1656;1627	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	E	1656;1627	ENSP00000375909:D1656E;ENSP00000339886:D1627E	ENSP00000339886:D1627E	D	-	3	2	SPHKAP	228554812	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.174000	0.31932	1.046000	0.40249	-0.256000	0.11100	GAT		0.502	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		15	46	0	0	0	0.006122	0	15	46				
UGT1A9	54600	broad.mit.edu	37	2	234581233	234581233	+	Nonsense_Mutation	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:234581233T>G	ENST00000354728.4	+	1	735	c.653T>G	c.(652-654)tTa>tGa	p.L218*	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Nonsense_Mutation_p.L218*			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	218					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|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)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)	p.L218*(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	GAGGAACATTTATTATGCCAC	0.433																																							uc002vus.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(652-654)TTA>TGA		UDP glycosyltransferase 1 family, polypeptide A9	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)						217.0	223.0	221.0					2																	234581233		2203	4300	6503	SO:0001587	stop_gained	54600				drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding	g.chr2:234581233T>G	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.653T>G	2.37:g.234581233T>G	ENSP00000346768:p.Leu218*					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Nonsense_Mutation_p.L218*	p.L218*	NM_021027	NP_066307	O60656	UD19_HUMAN		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	690	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)	218					B8K285|P36509|Q9HAX0	Nonsense_Mutation	SNP	ENST00000354728.4	37	c.653T>G	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.974096	0.74246	.	.	ENSG00000241119	ENST00000354728	.	.	.	3.22	0.848	0.18966	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	7.3813	0.26858	0.0:0.2125:0.0:0.7875	.	.	.	.	X	218	.	ENSP00000346768:L218X	L	+	2	0	UGT1A9	234245972	0.000000	0.05858	0.034000	0.17996	0.044000	0.14063	0.363000	0.20301	0.444000	0.26612	0.362000	0.22060	TTA		0.433	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		60	379	0	0	0	0.00361	0	60	379				
UGT1A7	54577	broad.mit.edu	37	2	234591242	234591242	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:234591242G>T	ENST00000373426.3	+	1	659	c.659G>T	c.(658-660)tGc>tTc	p.C220F	UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	220					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)	p.C220F(1)		NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		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;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	CATTTATTTTGCCCCTATTTT	0.423																																							uc002vut.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(658-660)TGC>TTC		UDP glycosyltransferase 1 family, polypeptide A7							159.0	172.0	168.0					2																	234591242		2203	4300	6503	SO:0001583	missense	54577				drug metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding	g.chr2:234591242G>T	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.659G>T	2.37:g.234591242G>T	ENSP00000362525:p.Cys220Phe					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_Missense_Mutation_p.C220F	p.C220F	NM_019077	NP_061950	Q9HAW7	UD17_HUMAN		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	1	659	+		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)	220					B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.659G>T	CCDS2506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.47|11.47	1.649413|1.649413	0.29336|0.29336	.|.	.|.	ENSG00000244122|ENSG00000244122	ENST00000485022|ENST00000373426	.|T	.|0.57436	.|0.4	4.16|4.16	3.26|3.26	0.37387|0.37387	.|.	.|.	.|.	.|.	.|.	T|T	0.40171|0.40171	0.1106|0.1106	L|L	0.28458|0.28458	0.855|0.855	0.09310|0.09310	N|N	1|1	.|B;B	.|0.20052	.|0.041;0.041	.|B;B	.|0.28991	.|0.097;0.097	T|T	0.21143|0.21143	-1.0254|-1.0254	5|9	.|0.06494	.|T	.|0.89	.|.	13.867|13.867	0.63594|0.63594	0.0:0.1544:0.8456:0.0|0.0:0.1544:0.8456:0.0	.|.	.|220;220	.|Q5DSZ7;Q9HAW7	.|.;UD17_HUMAN	S|F	77|220	.|ENSP00000362525:C220F	.|ENSP00000362525:C220F	A|C	+|+	1|2	0|0	UGT1A7|UGT1A7	234255981|234255981	0.991000|0.991000	0.36638|0.36638	0.103000|0.103000	0.21229|0.21229	0.151000|0.151000	0.21798|0.21798	2.451000|2.451000	0.44952|0.44952	0.941000|0.941000	0.37499|0.37499	0.485000|0.485000	0.47835|0.47835	GCC|TGC		0.423	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		109	246	1	0	9.53958e-58	0.00361	1.73507e-57	109	246				
UGT1A1	54658	broad.mit.edu	37	2	234669362	234669362	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:234669362C>A	ENST00000608383.1	+	1	429	c.429C>A	c.(427-429)agC>agA	p.S143R	UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.S143R|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.S143R			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	143					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.S143R(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TGGCAGAAAGCAGCTTTGATG	0.493																																							uc002vvb.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(427-429)AGC>AGA		UDP glycosyltransferase 1 family, polypeptide A1	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)						145.0	138.0	140.0					2																	234669362		2203	4300	6503	SO:0001583	missense	54658				bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	g.chr2:234669362C>A	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.429C>A	2.37:g.234669362C>A	ENSP00000476741:p.Ser143Arg					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_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.S143R	p.S143R	NM_000463	NP_000454	P22309	UD11_HUMAN		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	1	444	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	143					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000608383.1	37	c.429C>A	CCDS2510.1	.	.	.	.	.	.	.	.	.	.	C	8.141	0.785286	0.16189	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.67345	-0.26;-0.26	6.16	-2.24	0.06909	.	.	.	.	.	T	0.71921	0.3397	M	0.77820	2.39	0.09310	N	1	B;B	0.28880	0.226;0.009	P;B	0.46049	0.502;0.022	T	0.70876	-0.4753	9	0.52906	T	0.07	.	6.0315	0.19683	0.1895:0.3955:0.0:0.415	.	143;143	A6NJC3;P22309	.;UD11_HUMAN	R	143	ENSP00000304845:S143R;ENSP00000353593:S143R	ENSP00000304845:S143R	S	+	3	2	UGT1A1	234334101	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-1.598000	0.02087	-0.111000	0.12001	0.650000	0.86243	AGC		0.493	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	protein_coding				12	134	1	0	7.93312e-07	0.00245	1.01249e-06	12	134				
COL6A3	1293	broad.mit.edu	37	2	238275710	238275710	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:238275710T>C	ENST00000295550.4	-	11	5572	c.5120A>G	c.(5119-5121)aAc>aGc	p.N1707S	COL6A3_ENST00000409809.1_Missense_Mutation_p.N1501S|COL6A3_ENST00000346358.4_Missense_Mutation_p.N1507S|COL6A3_ENST00000353578.4_Missense_Mutation_p.N1501S|COL6A3_ENST00000347401.3_Missense_Mutation_p.N1506S|COL6A3_ENST00000472056.1_Missense_Mutation_p.N1100S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1707	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.N1707S(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GACCACTTTGTTGATGGCGTC	0.542																																							uc002vwl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(5119-5121)AAC>AGC		alpha 3 type VI collagen isoform 1 precursor							89.0	73.0	78.0					2																	238275710		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238275710T>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5120A>G	2.37:g.238275710T>C	ENSP00000295550:p.Asn1707Ser					COL6A3_uc002vwo.2_Missense_Mutation_p.N1501S|COL6A3_uc010znj.1_Missense_Mutation_p.N1100S	p.N1707S	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	11	5405	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1707			VWFA 9.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.5120A>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.693152	0.30052	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.56	1.98	0.26296	von Willebrand factor, type A (3);	0.097880	0.44097	D	0.000489	T	0.56615	0.1997	N	0.16708	0.43	0.28460	N	0.915908	P;P;B	0.40302	0.587;0.712;0.023	B;B;B	0.42319	0.383;0.279;0.012	T	0.53521	-0.8427	10	0.07990	T	0.79	.	5.0886	0.14696	0.0:0.2206:0.143:0.6363	.	1100;1501;1707	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	S	1707;1506;1501;1100;1501;1507	ENSP00000295550:N1707S;ENSP00000315609:N1506S;ENSP00000315873:N1501S;ENSP00000418285:N1100S;ENSP00000386844:N1501S;ENSP00000295546:N1507S	ENSP00000295550:N1707S	N	-	2	0	COL6A3	237940449	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.685000	0.25378	0.411000	0.25702	0.528000	0.53228	AAC		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		4	32	0	0	0	0.009096	0	4	32				
RBM44	375316	broad.mit.edu	37	2	238726120	238726120	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:238726120G>T	ENST00000409864.1	+	3	815	c.561G>T	c.(559-561)caG>caT	p.Q187H	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000316997.4_Missense_Mutation_p.Q187H			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	186						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.Q187H(2)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ACTCACAGCAGGAATATCACA	0.333																																							uc002vxi.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(559-561)CAG>CAT		RNA binding motif protein 44							27.0	27.0	27.0					2																	238726120		1890	4097	5987	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238726120G>T	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.561G>T	2.37:g.238726120G>T	ENSP00000386727:p.Gln187His						p.Q187H	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	3	693	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	186					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.561G>T	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	16.25	3.070687	0.55539	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.34472	1.36;1.36	5.6	4.71	0.59529	.	0.274636	0.25445	N	0.030640	T	0.50990	0.1648	L	0.54323	1.7	0.34503	D	0.706219	D	0.89917	1.0	D	0.67231	0.95	T	0.62369	-0.6869	10	0.62326	D	0.03	-5.8858	10.9458	0.47299	0.0865:0.0:0.9134:0.0	.	186	Q6ZP01	RBM44_HUMAN	H	187	ENSP00000321179:Q187H;ENSP00000386727:Q187H	ENSP00000321179:Q187H	Q	+	3	2	RBM44	238390859	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.245000	0.32790	2.655000	0.90218	0.650000	0.86243	CAG		0.333	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504		7	14	1	0	0.00307968	0.00308	0.00330101	7	14				
TRAF3IP1	26146	broad.mit.edu	37	2	239237850	239237850	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:239237850G>C	ENST00000373327.4	+	5	1004	c.782G>C	c.(781-783)aGa>aCa	p.R261T	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.R261T|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.R261T	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	261	Abolishes microtubules-binding when missing.|Arg-rich.|DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.R261T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		gagaaggagagactgagagac	0.592																																							uc002vye.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(781-783)AGA>ACA		TNF receptor-associated factor 3 interacting							84.0	93.0	90.0					2																	239237850		2200	4300	6500	SO:0001583	missense	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239237850G>C	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.782G>C	2.37:g.239237850G>C	ENSP00000362424:p.Arg261Thr					TRAF3IP1_uc002vyf.2_Missense_Mutation_p.R261T	p.R261T	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	5	901	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	261			Abolishes microtubules-binding when missing.|DISC1-interaction domain.|Arg-rich.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	ENST00000373327.4	37	c.782G>C	CCDS33415.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083649	0.55861	.	.	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.14391	2.51;2.51;2.51	4.01	3.13	0.36017	.	0.430579	0.21374	N	0.075593	T	0.18341	0.0440	L	0.58101	1.795	0.27211	N	0.95992	P;P	0.42078	0.728;0.77	B;P	0.45449	0.349;0.481	T	0.03576	-1.1023	10	0.44086	T	0.13	-7.2738	10.0046	0.41949	0.0986:0.0:0.9014:0.0	.	261;261	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	T	261	ENSP00000375851:R261T;ENSP00000362424:R261T;ENSP00000375852:R261T	ENSP00000362424:R261T	R	+	2	0	TRAF3IP1	238902589	0.028000	0.19301	0.012000	0.15200	0.225000	0.24961	2.237000	0.43061	0.805000	0.34159	0.655000	0.94253	AGA		0.592	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		3	20	0	0	0	0.004672	0	3	20				
OR6B2	389090	broad.mit.edu	37	2	240969526	240969526	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:240969526C>G	ENST00000402971.2	-	1	380	c.321G>C	c.(319-321)ctG>ctC	p.L107L		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L107L(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CGGTGCACACCAGGGAGCTGA	0.612																																							uc002vyr.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(319-321)CTG>CTC		olfactory receptor, family 6, subfamily B,							22.0	22.0	22.0					2																	240969526		1840	4049	5889	SO:0001819	synonymous_variant	389090				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr2:240969526C>G		CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"""GPCR / Class A : Olfactory receptors"""	15041	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily B, member 2 pseudogene"""	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.321G>C	2.37:g.240969526C>G						OR6B2_uc010zoc.1_Silent_p.L107L	p.L107L	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	2	367	-		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	107			Helical; Name=3; (Potential).		B2RPR3|Q8NGW0	Silent	SNP	ENST00000402971.2	37	c.321G>C	CCDS46559.1																																																																																				0.612	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326079.1	NM_001005853		6	27	0	0	0	0.004482	0	6	27				
PDYN	5173	broad.mit.edu	37	20	1961039	1961039	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:1961039C>A	ENST00000217305.2	-	4	920	c.695G>T	c.(694-696)cGc>cTc	p.R232L	PDYN_ENST00000539905.1_Missense_Mutation_p.R232L|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.R232L	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	232					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R232H(1)|p.R232L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTGAACTGGCGCCGGAGAAA	0.537																																							uc010gaj.2		NA																	2	Substitution - Missense(2)	p.R232H(1)	upper_aerodigestive_tract(1)|lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(694-696)CGC>CTC		beta-neoendorphin-dynorphin preproprotein							91.0	101.0	97.0					20																	1961039		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961039C>A		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.695G>T	20.37:g.1961039C>A	ENSP00000217305:p.Arg232Leu					uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.R232L|PDYN_uc010zpt.1_Missense_Mutation_p.R77L	p.R232L	NM_024411	NP_077722	P01213	PDYN_HUMAN			3	937	-			232					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.695G>T	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948988	0.92660	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.86164	-2.08;-2.08;-2.08	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.93858	0.8035	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94581	0.7779	10	0.87932	D	0	-18.3668	15.8394	0.78835	0.0:1.0:0.0:0.0	.	232	P01213	PDYN_HUMAN	L	232	ENSP00000440185:R232L;ENSP00000442259:R232L;ENSP00000217305:R232L	ENSP00000217305:R232L	R	-	2	0	PDYN	1909039	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.347000	0.73004	2.603000	0.88011	0.313000	0.20887	CGC		0.537	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			18	176	1	0	3.32936e-07	0.006122	4.35025e-07	18	176				
VPS16	64601	broad.mit.edu	37	20	2841893	2841893	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:2841893G>A	ENST00000380445.3	+	8	848	c.776G>A	c.(775-777)tGc>tAc	p.C259Y	VPS16_ENST00000380443.3_5'Flank|VPS16_ENST00000380469.3_Missense_Mutation_p.C259Y|PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	259					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)		p.C259Y(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GAGTTCAACTGCAACATCCGG	0.527																																							uc002whe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(775-777)TGC>TAC		vacuolar protein sorting 16 isoform 1							140.0	130.0	133.0					20																	2841893		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2841893G>A	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.776G>A	20.37:g.2841893G>A	ENSP00000369810:p.Cys259Tyr					VPS16_uc002whh.2_5'Flank|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.C259Y|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank|VPS16_uc002whi.2_5'Flank	p.C259Y	NM_022575	NP_072097	Q9H269	VPS16_HUMAN			8	824	+			259					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.776G>A	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403161	0.62288	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000417508	T;T	0.43688	0.95;0.94	5.71	5.71	0.89125	Vps16, N-terminal (1);	0.152531	0.64402	D	0.000016	T	0.38241	0.1033	L	0.54323	1.7	0.80722	D	1	D;P	0.55605	0.972;0.866	P;P	0.45946	0.498;0.45	T	0.32188	-0.9916	10	0.02654	T	1	-18.8701	12.9992	0.58666	0.0:0.162:0.838:0.0	.	259;259	Q9H269-2;Q9H269	.;VPS16_HUMAN	Y	259;259;141;141	ENSP00000369810:C259Y;ENSP00000369836:C259Y	ENSP00000369810:C259Y	C	+	2	0	VPS16	2789893	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.029000	0.64121	2.711000	0.92665	0.563000	0.77884	TGC		0.527	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		33	120	0	0	0	0.003271	0	33	120				
ADAM33	80332	broad.mit.edu	37	20	3652837	3652837	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:3652837C>G	ENST00000356518.2	-	14	1782	c.1541G>C	c.(1540-1542)tGc>tCc	p.C514S	ADAM33_ENST00000350009.2_Missense_Mutation_p.C514S|ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000379861.4_Missense_Mutation_p.C514S	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	514	Cys-rich.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C514S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GCCATCCCAGCAGTAGCCACT	0.652																																							uc002wit.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(1540-1542)TGC>TCC		ADAM metallopeptidase domain 33 isoform alpha							45.0	44.0	45.0					20																	3652837		2203	4300	6503	SO:0001583	missense	80332				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr20:3652837C>G	AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.1541G>C	20.37:g.3652837C>G	ENSP00000348912:p.Cys514Ser					ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.C514S|ADAM33_uc002wis.2_Missense_Mutation_p.C36S|ADAM33_uc002wiu.2_Missense_Mutation_p.C514S|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron	p.C514S	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN			14	1628	-			514			Extracellular (Potential).|Cys-rich.		A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Missense_Mutation	SNP	ENST00000356518.2	37	c.1541G>C	CCDS13058.1	.	.	.	.	.	.	.	.	.	.	c	27.0	4.795730	0.90453	.	.	ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201	T;T;T	0.63255	-0.03;-0.03;-0.03	4.47	4.47	0.54385	ADAM, cysteine-rich (2);	.	.	.	.	D	0.86205	0.5877	H	0.97587	4.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.91331	0.5090	9	0.87932	D	0	.	15.867	0.79071	0.0:1.0:0.0:0.0	.	514;514;514	Q9BZ11-2;Q9BZ11;A2A2L3	.;ADA33_HUMAN;.	S	514;514;514;394	ENSP00000348912:C514S;ENSP00000369190:C514S;ENSP00000322550:C514S	ENSP00000322550:C514S	C	-	2	0	ADAM33	3600837	1.000000	0.71417	0.690000	0.30148	0.934000	0.57294	7.310000	0.78947	2.321000	0.78463	0.457000	0.33378	TGC		0.652	ADAM33-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077763.2	NM_025220		30	32	0	0	0	0.009535	0	30	32				
CDC25B	994	broad.mit.edu	37	20	3781942	3781942	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:3781942C>T	ENST00000245960.5	+	8	1444	c.747C>T	c.(745-747)agC>agT	p.S249S	CDC25B_ENST00000340833.4_Silent_p.S208S|CDC25B_ENST00000439880.2_Silent_p.S235S|CDC25B_ENST00000344256.6_Silent_p.S185S|CDC25B_ENST00000379598.5_Silent_p.S185S|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	249					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.S270S(1)|p.S249S(1)		NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AGGAGCTCAGCCCCCTGGCCC	0.537																																							uc002wjn.2		NA																	2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(2)	5						c.(745-747)AGC>AGT		cell division cycle 25B isoform 1							118.0	115.0	116.0					20																	3781942		2203	4300	6503	SO:0001819	synonymous_variant	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3781942C>T		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.747C>T	20.37:g.3781942C>T						CDC25B_uc010zqk.1_Silent_p.S185S|CDC25B_uc010zql.1_Silent_p.S171S|CDC25B_uc010zqm.1_Silent_p.S185S|CDC25B_uc002wjl.2_Silent_p.S137S|CDC25B_uc002wjm.2_Silent_p.S137S|CDC25B_uc002wjo.2_Silent_p.S235S|CDC25B_uc002wjp.2_Silent_p.S208S|CDC25B_uc002wjq.2_Silent_p.S49S|CDC25B_uc010gbc.2_5'Flank	p.S249S	NM_021873	NP_068659	P30305	MPIP2_HUMAN			8	1525	+			249					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Silent	SNP	ENST00000245960.5	37	c.747C>T	CCDS13067.1																																																																																				0.537	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		9	153	0	0	0	0.006214	0	9	153				
PLCB4	5332	broad.mit.edu	37	20	9352970	9352970	+	Silent	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:9352970A>T	ENST00000378493.1	+	8	621	c.606A>T	c.(604-606)acA>acT	p.T202T	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.T202T|PLCB4_ENST00000414679.2_Silent_p.T202T|PLCB4_ENST00000378501.2_Silent_p.T202T|PLCB4_ENST00000278655.4_Silent_p.T202T|PLCB4_ENST00000334005.3_Silent_p.T202T			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	202					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.T202T(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTGAGCCCACAGCATTTTCTT	0.368																																							uc002wnf.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(11)|ovary(3)|pancreas(1)	15						c.(604-606)ACA>ACT		phospholipase C beta 4 isoform b							81.0	82.0	81.0					20																	9352970		2202	4300	6502	SO:0001819	synonymous_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9352970A>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.606A>T	20.37:g.9352970A>T						PLCB4_uc010gbw.1_Silent_p.T202T|PLCB4_uc010gbx.2_Silent_p.T202T|PLCB4_uc002wne.2_Silent_p.T202T|PLCB4_uc002wnh.2_Silent_p.T49T	p.T202T	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			10	742	+			202					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Silent	SNP	ENST00000378493.1	37	c.606A>T	CCDS13105.1																																																																																				0.368	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			6	89	0	0	0	0.001168	0	6	89				
PLCB4	5332	broad.mit.edu	37	20	9368109	9368109	+	Splice_Site	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:9368109G>T	ENST00000378493.1	+	12	1079		c.e12-1		PLCB4_ENST00000492632.1_Splice_Site|PLCB4_ENST00000378473.3_Splice_Site|PLCB4_ENST00000414679.2_Splice_Site|PLCB4_ENST00000378501.2_Splice_Site|PLCB4_ENST00000278655.4_Splice_Site|PLCB4_ENST00000334005.3_Splice_Site			Q15147	PLCB4_HUMAN	phospholipase C, beta 4						inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.?(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TATATCCCTAGATGTGTTGAA	0.318																																							uc002wnf.2		NA																	1	Unknown(1)		lung(1)	skin(11)|ovary(3)|pancreas(1)	15						c.e14-1		phospholipase C beta 4 isoform b							126.0	122.0	124.0					20																	9368109		2203	4300	6503	SO:0001630	splice_region_variant	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9368109G>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.1065-1G>T	20.37:g.9368109G>T						PLCB4_uc010gbw.1_Splice_Site_p.R355_splice|PLCB4_uc010gbx.2_Splice_Site_p.R355_splice|PLCB4_uc002wne.2_Splice_Site_p.R355_splice|PLCB4_uc002wnh.2_Splice_Site_p.R202_splice	p.R355_splice	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			14	1201	+								B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Splice_Site	SNP	ENST00000378493.1	37	c.1065_splice	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.370710	0.82573	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0235	0.97511	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLCB4	9316109	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.845000	0.99498	2.727000	0.93392	0.563000	0.77884	.		0.318	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		Intron	43	58	1	0	3.21987e-24	0.00361	5.62131e-24	43	58				
PAK7	57144	broad.mit.edu	37	20	9546931	9546931	+	Missense_Mutation	SNP	G	G	A	rs562732119		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:9546931G>A	ENST00000378429.3	-	6	1637	c.1091C>T	c.(1090-1092)tCg>tTg	p.S364L	PAK7_ENST00000353224.5_Missense_Mutation_p.S364L|PAK7_ENST00000378423.1_Missense_Mutation_p.S364L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	364	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S364L(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGAATAGCCCGATTTGCTTTG	0.562													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20129	0.0		0.0	False		,,,				2504	0.0						uc002wnl.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(1090-1092)TCG>TTG		p21-activated kinase 7							166.0	164.0	164.0					20																	9546931		2203	4300	6503	SO:0001583	missense	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546931G>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1091C>T	20.37:g.9546931G>A	ENSP00000367686:p.Ser364Leu					PAK7_uc002wnk.2_Missense_Mutation_p.S364L|PAK7_uc002wnj.2_Missense_Mutation_p.S364L|PAK7_uc010gby.1_Missense_Mutation_p.S364L	p.S364L	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1636	-			364			Linker.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	c.1091C>T	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802408	0.31869	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.30448	1.53;1.53;1.53	5.94	-2.91	0.05631	.	1.304430	0.04530	N	0.386172	T	0.18635	0.0447	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.001	T	0.22836	-1.0205	9	.	.	.	.	6.901	0.24283	0.4029:0.2103:0.3868:0.0	.	364;364	B0AZM9;Q9P286	.;PAK7_HUMAN	L	364;364;364;312	ENSP00000367686:S364L;ENSP00000322957:S364L;ENSP00000367679:S364L	.	S	-	2	0	PAK7	9494931	0.083000	0.21467	0.002000	0.10522	0.963000	0.63663	0.681000	0.25320	-0.329000	0.08527	0.591000	0.81541	TCG		0.562	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			9	197	0	0	0	0.006214	0	9	197				
KIF16B	55614	broad.mit.edu	37	20	16316589	16316589	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:16316589C>T	ENST00000354981.2	-	24	3850	c.3693G>A	c.(3691-3693)ttG>ttA	p.L1231L	KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000378003.2_Silent_p.L416L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1231	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.L1231L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ACTTTAACTTCAATGTTTTAT	0.323																																							uc002wpg.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(3691-3693)TTG>TTA		kinesin-like motor protein C20orf23							121.0	110.0	114.0					20																	16316589		2203	4298	6501	SO:0001819	synonymous_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16316589C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3693G>A	20.37:g.16316589C>T						KIF16B_uc002wpe.1_Intron|KIF16B_uc002wpf.1_Silent_p.L572L|KIF16B_uc010gch.1_Silent_p.L1180L	p.L1231L	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			24	3851	-			1231			PX.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	c.3693G>A	CCDS13122.1																																																																																				0.323	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		43	167	0	0	0	0.010771	0	43	167				
CD93	22918	broad.mit.edu	37	20	23065301	23065301	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:23065301G>T	ENST00000246006.4	-	1	1676	c.1529C>A	c.(1528-1530)cCc>cAc	p.P510H		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	510					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.P510H(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGTAGCCTTGGGGGTGCCCTC	0.647																																							uc002wsv.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(1528-1530)CCC>CAC		CD93 antigen precursor							47.0	55.0	52.0					20																	23065301		2201	4300	6501	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065301G>T	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1529C>A	20.37:g.23065301G>T	ENSP00000246006:p.Pro510His						p.P510H	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			1	1677	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		510			Extracellular (Potential).		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.1529C>A	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347922	0.24426	.	.	ENSG00000125810	ENST00000246006	D	0.81499	-1.5	5.79	2.5	0.30297	.	0.567496	0.14867	N	0.293780	T	0.67776	0.2929	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.59825	-0.7381	10	0.56958	D	0.05	-20.2177	9.9658	0.41723	0.0734:0.0:0.6435:0.283	.	510	Q9NPY3	C1QR1_HUMAN	H	510	ENSP00000246006:P510H	ENSP00000246006:P510H	P	-	2	0	CD93	23013301	0.024000	0.19004	0.005000	0.12908	0.000000	0.00434	1.017000	0.29989	0.766000	0.33244	-0.140000	0.14226	CCC		0.647	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		34	114	1	0	5.04308e-16	0.00623	8.26527e-16	34	114				
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	101										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363																																							uc010ztl.1		NA																	0					0						c.(211-213)AGT>GGT		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001583	missense	284802							g.chr20:29628299A>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.301A>G	20.37:g.29628299A>G	ENSP00000278882:p.Ser101Gly					FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.S23G	p.S71G							3	243	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.211A>G		.	.	.	.	.	.	.	.	.	.	a	16.61	3.170807	0.57584	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50001	0.76	2.08	2.08	0.27032	Actin cross-linking (1);	0.125588	0.64402	D	0.000001	T	0.38719	0.1051	.	.	.	0.42178	D	0.991671	B;P	0.36483	0.147;0.555	B;B	0.37731	0.138;0.257	T	0.38178	-0.9673	9	0.62326	D	0.03	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	106;101	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	G	101;106;101	ENSP00000408863:S106G	ENSP00000278882:S101G	S	+	1	0	FRG1B	28241960	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.085000	0.89518	1.208000	0.43306	0.347000	0.21830	AGT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	53	0	0	0	0.004482	0	3	53				
BPIFB4	149954	broad.mit.edu	37	20	31671171	31671171	+	Splice_Site	SNP	A	A	T	rs376296699		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:31671171A>T	ENST00000375483.3	+	3	169		c.e3-1			NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4							cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.?(1)									AATTCCCCCGAGGTGTTGGTG	0.522																																							uc010zue.1		NA																	1	Unknown(1)		lung(1)		0						c.e3-2		antimicrobial peptide RY2G5 precursor							90.0	90.0	90.0					20																	31671171		2203	4300	6503	SO:0001630	splice_region_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31671171A>T	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.170-1A>T	20.37:g.31671171A>T							p.G57_splice	NM_182519	NP_872325	P59827	LPLC4_HUMAN			3	185	+								Q5TDX6	Splice_Site	SNP	ENST00000375483.3	37	c.170_splice	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	a	3.355	-0.131762	0.06753	.	.	ENSG00000186191	ENST00000375483	.	.	.	2.68	2.68	0.31781	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.104	0.25353	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BPIFB4	31134832	1.000000	0.71417	0.961000	0.40146	0.016000	0.09150	3.760000	0.55235	1.221000	0.43506	0.255000	0.18592	.		0.522	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519	Intron	16	122	0	0	0	0.004007	0	16	122				
PXMP4	11264	broad.mit.edu	37	20	32298426	32298426	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:32298426C>T	ENST00000409299.3	-	3	402	c.310G>A	c.(310-312)Gca>Aca	p.A104T	PXMP4_ENST00000344022.3_Intron|PXMP4_ENST00000217398.3_Silent_p.T110T	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	104						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)		p.A104T(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GCCAGGAATGCGTGTGCTGGG	0.542																																							uc002wzv.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(310-312)GCA>ACA		peroxisomal membrane protein 4 isoform a							150.0	132.0	138.0					20																	32298426		2203	4300	6503	SO:0001583	missense	11264					integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity	g.chr20:32298426C>T	AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"""24 kDa peroxisomal intrinsic membrane protein"""		"""peroxisomal membrane protein 4 (24kD)"""			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.310G>A	20.37:g.32298426C>T	ENSP00000386385:p.Ala104Thr					PXMP4_uc002wzw.2_Intron|PXMP4_uc010zuh.1_Silent_p.T110T	p.A104T	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN			3	433	-			104			Helical; (Potential).		A2A2I7|Q9H0T4	Missense_Mutation	SNP	ENST00000409299.3	37	c.310G>A	CCDS13225.1	.	.	.	.	.	.	.	.	.	.	C	5.335	0.247151	0.10130	.	.	ENSG00000101417	ENST00000409299	T	0.30714	1.52	5.22	1.68	0.24146	.	0.367572	0.31821	N	0.007017	T	0.10981	0.0268	N	0.03608	-0.345	0.80722	D	1	B	0.22800	0.075	B	0.22152	0.038	T	0.16129	-1.0413	9	.	.	.	-0.5572	6.3378	0.21306	0.7196:0.1361:0.1443:0.0	.	104	Q9Y6I8	PXMP4_HUMAN	T	104	ENSP00000386385:A104T	.	A	-	1	0	PXMP4	31762087	1.000000	0.71417	0.113000	0.21522	0.114000	0.19823	2.456000	0.44997	0.023000	0.15187	-0.266000	0.10368	GCA		0.542	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078739.2	NM_007238		6	65	0	0	0	0.001984	0	6	65				
SLC32A1	140679	broad.mit.edu	37	20	37357066	37357066	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:37357066G>T	ENST00000217420.1	+	2	1625	c.1362G>T	c.(1360-1362)gcG>gcT	p.A454A		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	454					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)	p.A454A(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGCACTTCGCGCTGCTCATGG	0.677																																							uc002xjc.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1360-1362)GCG>GCT		solute carrier family 32, member 1	Glycine(DB00145)						31.0	33.0	32.0					20																	37357066		2203	4299	6502	SO:0001819	synonymous_variant	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.chr20:37357066G>T	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.1362G>T	20.37:g.37357066G>T							p.A454A	NM_080552	NP_542119	Q9H598	VIAAT_HUMAN			2	1625	+		Myeloproliferative disorder(115;0.00878)	454			Helical; (Potential).		Q8N489	Silent	SNP	ENST00000217420.1	37	c.1362G>T	CCDS13307.1																																																																																				0.677	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		19	33	1	0	4.35082e-09	0.010504	6.09698e-09	19	33				
FAM83D	81610	broad.mit.edu	37	20	37580398	37580398	+	Silent	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:37580398G>C	ENST00000217429.4	+	4	1124	c.1083G>C	c.(1081-1083)cgG>cgC	p.R361R		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	331					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R361R(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ACCTGCTGCGGATGCGGCTGG	0.597																																							uc002xjg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1081-1083)CGG>CGC		hypothetical protein LOC81610							79.0	85.0	83.0					20																	37580398		2036	4176	6212	SO:0001819	synonymous_variant	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37580398G>C	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.1083G>C	20.37:g.37580398G>C							p.R361R	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN			4	1124	+		Myeloproliferative disorder(115;0.00878)	331					B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	Silent	SNP	ENST00000217429.4	37	c.1083G>C	CCDS42872.1																																																																																				0.597	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1			22	66	0	0	0	0.002299	0	22	66				
JPH2	57158	broad.mit.edu	37	20	42744380	42744380	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:42744380C>G	ENST00000372980.3	-	4	2807	c.1935G>C	c.(1933-1935)ctG>ctC	p.L645L		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	645					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|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)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.L645L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCGCCTTGGTCAGCCCTCGAG	0.697																																							uc002xli.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1933-1935)CTG>CTC		junctophilin 2 isoform 1							36.0	40.0	39.0					20																	42744380		2203	4300	6503	SO:0001819	synonymous_variant	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42744380C>G	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1935G>C	20.37:g.42744380C>G							p.L645L	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	2808	-		Myeloproliferative disorder(115;0.0122)	645			Cytoplasmic (Potential).		E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	c.1935G>C	CCDS13325.1																																																																																				0.697	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			8	28	0	0	0	0.004482	0	8	28				
PREX1	57580	broad.mit.edu	37	20	47364366	47364366	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:47364366G>T	ENST00000371941.3	-	2	293	c.271C>A	c.(271-273)Ctc>Atc	p.L91I	PREX1_ENST00000396220.1_Missense_Mutation_p.L91I	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	91	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L91I(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCCTCCGTGAGGCCCTTCTCC	0.602																																							uc002xtw.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(271-273)CTC>ATC		phosphatidylinositol-3,4,							124.0	107.0	113.0					20																	47364366		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47364366G>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.271C>A	20.37:g.47364366G>T	ENSP00000361009:p.Leu91Ile						p.L91I	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		2	294	-			91			DH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.271C>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	7.107	0.575207	0.13623	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.66995	-0.24;-0.24	4.58	3.56	0.40772	Dbl homology (DH) domain (5);	0.134765	0.29660	U	0.011522	T	0.38161	0.1030	N	0.04880	-0.145	0.38729	D	0.95362	B	0.02656	0.0	B	0.15052	0.012	T	0.34104	-0.9842	10	0.02654	T	1	.	10.1682	0.42893	0.0:0.0:0.4239:0.5761	.	91	Q8TCU6	PREX1_HUMAN	I	91	ENSP00000361009:L91I;ENSP00000379522:L91I	ENSP00000361009:L91I	L	-	1	0	PREX1	46797773	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.427000	0.44740	1.088000	0.41272	0.448000	0.29417	CTC		0.602	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		10	26	1	0	6.40141e-05	0.010729	7.4174e-05	10	26				
ZNFX1	57169	broad.mit.edu	37	20	47888037	47888037	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:47888037C>T	ENST00000396105.1	-	3	558	c.312G>A	c.(310-312)agG>agA	p.R104R	ZNFX1_ENST00000371754.4_Silent_p.R104R|ZNFX1_ENST00000371752.1_Silent_p.R104R	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	104							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R104R(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CATTTCTCCACCTGGTGTCAT	0.572																																							uc002xui.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(310-312)AGG>AGA		zinc finger, NFX1-type containing 1							312.0	276.0	288.0					20																	47888037		2203	4300	6503	SO:0001819	synonymous_variant	57169						metal ion binding	g.chr20:47888037C>T	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.312G>A	20.37:g.47888037C>T							p.R104R	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	559	-			104					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	ENST00000396105.1	37	c.312G>A	CCDS13417.1																																																																																				0.572	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		54	285	0	0	0	0.00361	0	54	285				
ZNF217	7764	broad.mit.edu	37	20	52193386	52193386	+	Silent	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:52193386G>C	ENST00000371471.2	-	4	2342	c.1917C>G	c.(1915-1917)ctC>ctG	p.L639L	RP4-724E16.2_ENST00000424252.1_RNA|ZNF217_ENST00000302342.3_Silent_p.L639L			O75362	ZN217_HUMAN	zinc finger protein 217	639					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.L639L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TTCTACAGATGAGGTTATTTG	0.478																																							uc002xwq.3		NA																	2	Substitution - coding silent(2)		lung(2)	skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1)	6						c.(1915-1917)CTC>CTG		zinc finger protein 217							176.0	173.0	174.0					20																	52193386		2203	4300	6503	SO:0001819	synonymous_variant	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52193386G>C	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1917C>G	20.37:g.52193386G>C						ZNF217_uc010gij.1_Silent_p.L631L	p.L639L	NM_006526	NP_006517	O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		3	2188	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		639					E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	c.1917C>G	CCDS13443.1																																																																																				0.478	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		12	292	0	0	0	0.001368	0	12	292				
C20orf85	128602	broad.mit.edu	37	20	56735845	56735845	+	Silent	SNP	A	A	T	rs200392673	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:56735845A>T	ENST00000371168.3	+	4	442	c.381A>T	c.(379-381)cgA>cgT	p.R127R		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	127								p.R127R(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			CTTTTGCACGAGAGCTGTGCT	0.612																																							uc002xyv.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(379-381)CGA>CGT		hypothetical protein LOC128602							64.0	50.0	55.0					20																	56735845		2203	4300	6503	SO:0001819	synonymous_variant	128602							g.chr20:56735845A>T	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.381A>T	20.37:g.56735845A>T							p.R127R	NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		4	419	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		127						Silent	SNP	ENST00000371168.3	37	c.381A>T	CCDS13465.1																																																																																				0.612	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		5	55	0	0	0	0.001168	0	5	55				
ZNF831	128611	broad.mit.edu	37	20	57767923	57767923	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:57767923C>A	ENST00000371030.2	+	1	1849	c.1849C>A	c.(1849-1851)Cag>Aag	p.Q617K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	617							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.Q617K(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GATGTTCTCCCAGGAGAAGTG	0.587																																							uc002yan.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(13)|ovary(1)	14						c.(1849-1851)CAG>AAG		zinc finger protein 831							60.0	68.0	66.0					20																	57767923		2060	4202	6262	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767923C>A	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1849C>A	20.37:g.57767923C>A	ENSP00000360069:p.Gln617Lys						p.Q617K	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	1849	+	all_lung(29;0.0085)		617					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1849C>A	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.986562	0.74589	.	.	ENSG00000124203	ENST00000371030	T	0.07908	3.15	5.21	5.21	0.72293	.	0.000000	0.51477	D	0.000091	T	0.17408	0.0418	L	0.38175	1.15	0.35822	D	0.824659	D	0.67145	0.996	P	0.60068	0.868	T	0.04281	-1.0963	10	0.62326	D	0.03	-25.4179	15.0093	0.71539	0.0:0.8574:0.1426:0.0	.	617	Q5JPB2	ZN831_HUMAN	K	617	ENSP00000360069:Q617K	ENSP00000360069:Q617K	Q	+	1	0	ZNF831	57201318	0.999000	0.42202	1.000000	0.80357	0.853000	0.48598	2.960000	0.49161	2.423000	0.82170	0.655000	0.94253	CAG		0.587	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		34	83	1	0	3.09479e-21	0.006999	5.33161e-21	34	83				
FAM217B	63939	broad.mit.edu	37	20	58519045	58519045	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:58519045C>G	ENST00000358293.3	+	5	462	c.47C>G	c.(46-48)tCt>tGt	p.S16C	FAM217B_ENST00000469084.1_Intron|FAM217B_ENST00000360816.3_Missense_Mutation_p.S16C	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	16								p.S16C(1)									TCAAAGAATTCTTCAGGAAAA	0.418																																							uc002yba.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(46-48)TCT>TGT		hypothetical protein LOC63939							52.0	53.0	52.0					20																	58519045		2203	4300	6503	SO:0001583	missense	63939							g.chr20:58519045C>G	AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.47C>G	20.37:g.58519045C>G	ENSP00000351040:p.Ser16Cys					C20orf177_uc010zzx.1_Intron|C20orf177_uc002ybc.2_Missense_Mutation_p.S16C	p.S16C	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.22e-08)		5	462	+	all_lung(29;0.00693)		16					B3KWH1|Q9NTA3	Missense_Mutation	SNP	ENST00000358293.3	37	c.47C>G	CCDS13484.1	.	.	.	.	.	.	.	.	.	.	C	9.783	1.175740	0.21704	.	.	ENSG00000196227	ENST00000358293;ENST00000360816;ENST00000421092	T;T	0.32988	1.43;1.43	5.46	3.53	0.40419	.	1.472730	0.04161	N	0.323001	T	0.44623	0.1302	L	0.40543	1.245	0.09310	N	1	D	0.69078	0.997	P	0.60473	0.875	T	0.22243	-1.0222	10	0.59425	D	0.04	-7.7263	8.0558	0.30604	0.0:0.7575:0.0:0.2425	.	16	Q9NTX9	CT177_HUMAN	C	16	ENSP00000351040:S16C;ENSP00000354056:S16C	ENSP00000351040:S16C	S	+	2	0	C20orf177	57952440	0.000000	0.05858	0.607000	0.28956	0.229000	0.25112	0.670000	0.25157	1.308000	0.44962	0.655000	0.94253	TCT		0.418	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268139.1	NM_022106		6	63	0	0	0	0.001168	0	6	63				
CDH26	60437	broad.mit.edu	37	20	58559697	58559697	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:58559697A>T	ENST00000244047.5	+	6	856	c.545A>T	c.(544-546)cAa>cTa	p.Q182L	CDH26_ENST00000348616.4_Missense_Mutation_p.Q182L			Q8IXH8	CAD26_HUMAN	cadherin 26	182	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q182L(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TTTCTAGGGCAACCTATTTTT	0.338																																							uc002ybe.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(544-546)CAA>CTA		cadherin-like 26 isoform a							69.0	75.0	73.0					20																	58559697		2202	4300	6502	SO:0001583	missense	60437				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:58559697A>T	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.545A>T	20.37:g.58559697A>T	ENSP00000244047:p.Gln182Leu					CDH26_uc010zzy.1_RNA	p.Q182L	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.58e-09)		6	845	+	all_lung(29;0.00963)		182			Cadherin 2.|Extracellular (Potential).		A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37	c.545A>T		.	.	.	.	.	.	.	.	.	.	A	9.256	1.042057	0.19748	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.52526	0.66;0.66	4.43	0.444	0.16592	.	1.238790	0.05535	N	0.564649	T	0.26955	0.0660	N	0.05230	-0.09	0.09310	N	1	B	0.18461	0.028	B	0.20955	0.032	T	0.29640	-1.0005	10	0.87932	D	0	.	4.8569	0.13564	0.5053:0.1687:0.0:0.326	.	182	Q8IXH8-4	.	L	182	ENSP00000244047:Q182L;ENSP00000339390:Q182L	ENSP00000244047:Q182L	Q	+	2	0	CDH26	57993092	0.001000	0.12720	0.200000	0.23457	0.513000	0.34164	1.053000	0.30442	0.089000	0.17243	0.533000	0.62120	CAA		0.338	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980		10	118	0	0	0	0.008291	0	10	118				
DIDO1	11083	broad.mit.edu	37	20	61513083	61513083	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:61513083C>A	ENST00000266070.4	-	16	4550	c.4225G>T	c.(4225-4227)Gag>Tag	p.E1409*	DIDO1_ENST00000395343.1_Nonsense_Mutation_p.E1409*	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1409					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E1409*(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTTCCACCTCGTGGCGCCGC	0.602																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(3)	6						c.(4225-4227)GAG>TAG		death inducer-obliterator 1 isoform c							75.0	81.0	79.0					20																	61513083		2203	4300	6503	SO:0001587	stop_gained	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513083C>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4225G>T	20.37:g.61513083C>A	ENSP00000266070:p.Glu1409*					DIDO1_uc002yds.1_Nonsense_Mutation_p.E1409*	p.E1409*	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	4489	-	Breast(26;5.68e-08)		1409					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Nonsense_Mutation	SNP	ENST00000266070.4	37	c.4225G>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	45	11.337873	0.99548	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	.	.	.	5.67	5.67	0.87782	.	0.309842	0.22708	N	0.056604	.	.	.	.	.	.	0.40453	D	0.980162	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-29.0191	10.8151	0.46571	0.0:0.8859:0.0:0.1141	.	.	.	.	X	1409	.	ENSP00000266070:E1409X	E	-	1	0	DIDO1	60983528	0.029000	0.19370	0.011000	0.14972	0.001000	0.01503	2.321000	0.43805	2.667000	0.90743	0.563000	0.77884	GAG		0.602	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		16	148	1	0	5.01169e-05	0.00499	5.84604e-05	16	148				
OPRL1	4987	broad.mit.edu	37	20	62729793	62729793	+	Nonsense_Mutation	SNP	C	C	T	rs534873633		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr20:62729793C>T	ENST00000349451.3	+	6	1166	c.754C>T	c.(754-756)Cga>Tga	p.R252*	OPRL1_ENST00000355631.4_Nonsense_Mutation_p.R252*|OPRL1_ENST00000336866.2_Nonsense_Mutation_p.R252*	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	252					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)	p.R252*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CTCGGGCTCCCGAGAGAAGGA	0.637													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18467	0.0		0.0	False		,,,				2504	0.0						uc002yic.2		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(754-756)CGA>TGA		opiate receptor-like 1							135.0	119.0	125.0					20																	62729793		2203	4299	6502	SO:0001587	stop_gained	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729793C>T		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.754C>T	20.37:g.62729793C>T	ENSP00000336764:p.Arg252*					OPRL1_uc002yid.2_Nonsense_Mutation_p.R252*|OPRL1_uc002yif.3_Nonsense_Mutation_p.R247*	p.R252*	NM_182647	NP_872588	P41146	OPRX_HUMAN			5	1156	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		252			Cytoplasmic (Potential).		Q8TD34|Q8WYH9|Q9H4K4	Nonsense_Mutation	SNP	ENST00000349451.3	37	c.754C>T	CCDS13556.1	.	.	.	.	.	.	.	.	.	.	C	35	5.548942	0.96488	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	.	.	.	4.63	2.5	0.30297	.	0.114545	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	5.6474	0.17596	0.4486:0.4416:0.0:0.1098	.	.	.	.	X	252	.	ENSP00000336843:R252X	R	+	1	2	OPRL1	62200237	0.992000	0.36948	0.719000	0.30619	0.365000	0.29674	2.887000	0.48586	0.949000	0.37715	0.500000	0.49745	CGA		0.637	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647		11	137	0	0	0	0.001855	0	11	137				
DSCAM	1826	broad.mit.edu	37	21	41450679	41450679	+	Missense_Mutation	SNP	C	C	A	rs571214830		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr21:41450679C>A	ENST00000400454.1	-	26	5123	c.4646G>T	c.(4645-4647)cGg>cTg	p.R1549L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1549	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R1549L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTTGCACACCCGCATCTGCAG	0.572																																					Melanoma(134;970 1778 1785 21664 32388)	Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(4645-4647)CGG>CTG		Down syndrome cell adhesion molecule isoform							68.0	73.0	71.0					21																	41450679		2187	4288	6475	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41450679C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4646G>T	21.37:g.41450679C>A	ENSP00000383303:p.Arg1549Leu					DSCAM_uc002yyr.1_RNA	p.R1549L	NM_001389	NP_001380	O60469	DSCAM_HUMAN			26	5098	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1549			Extracellular (Potential).|Fibronectin type-III 6.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.4646G>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.514089	0.85389	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.58060	0.36;0.36	4.85	4.85	0.62838	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.053068	0.64402	D	0.000001	T	0.51244	0.1663	L	0.58101	1.795	0.40195	D	0.977447	P	0.44946	0.846	B	0.39379	0.298	T	0.57481	-0.7804	10	0.39692	T	0.17	.	18.3543	0.90352	0.0:1.0:0.0:0.0	.	1549	O60469	DSCAM_HUMAN	L	1549;1301	ENSP00000383303:R1549L;ENSP00000385342:R1301L	ENSP00000383303:R1549L	R	-	2	0	DSCAM	40372549	1.000000	0.71417	0.979000	0.43373	0.971000	0.66376	4.716000	0.61916	2.397000	0.81536	0.563000	0.77884	CGG		0.572	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		10	27	1	0	4.68919e-08	0.008291	6.30865e-08	10	27				
DSCAM	1826	broad.mit.edu	37	21	41719760	41719760	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr21:41719760G>T	ENST00000400454.1	-	6	1524	c.1047C>A	c.(1045-1047)cgC>cgA	p.R349R		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	349	Ig-like C2-type 4.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.R349R(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTTCACCATTGCGGTACCAGG	0.507																																					Melanoma(134;970 1778 1785 21664 32388)	Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(1045-1047)CGC>CGA		Down syndrome cell adhesion molecule isoform							216.0	197.0	203.0					21																	41719760		1952	4155	6107	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41719760G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.1047C>A	21.37:g.41719760G>T						DSCAM_uc002yyr.1_RNA	p.R349R	NM_001389	NP_001380	O60469	DSCAM_HUMAN			6	1499	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	349			Extracellular (Potential).|Ig-like C2-type 4.		O60468	Silent	SNP	ENST00000400454.1	37	c.1047C>A	CCDS42929.1																																																																																				0.507	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		56	109	1	0	1.13205e-32	0.00361	2.02373e-32	56	109				
FAM3B	54097	broad.mit.edu	37	21	42718992	42718992	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr21:42718992G>T	ENST00000357985.2	+	6	596	c.450G>T	c.(448-450)ctG>ctT	p.L150L	FAM3B_ENST00000398652.3_Silent_p.L189L|FAM3B_ENST00000398647.3_Silent_p.L102L|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Silent_p.L173L	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	150					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)	p.L150L(1)		central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CAAAATCCCTGCTCTTCATGG	0.527																																							uc002yzb.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(448-450)CTG>CTT		family with sequence similarity 3, member B							199.0	175.0	183.0					21																	42718992		2203	4300	6503	SO:0001819	synonymous_variant	54097				apoptosis|insulin secretion	extracellular space	cytokine activity	g.chr21:42718992G>T	AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"""pancreatic-derived factor"""	608617	"""chromosome 21 open reading frame 11"""	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.450G>T	21.37:g.42718992G>T						FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Silent_p.L102L|FAM3B_uc002yzd.1_Silent_p.L173L	p.L150L	NM_058186	NP_478066	P58499	FAM3B_HUMAN			6	596	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)	150						Silent	SNP	ENST00000357985.2	37	c.450G>T	CCDS13671.1																																																																																				0.527	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195142.1	NM_058186		49	80	1	0	2.64514e-33	0.00361	4.74488e-33	49	80				
UBASH3A	53347	broad.mit.edu	37	21	43838595	43838595	+	Missense_Mutation	SNP	C	C	T	rs568544007	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr21:43838595C>T	ENST00000319294.6	+	7	954	c.923C>T	c.(922-924)aCg>aTg	p.T308M	UBASH3A_ENST00000398367.1_Missense_Mutation_p.T270M|RNU6-1149P_ENST00000516810.1_RNA|UBASH3A_ENST00000291535.6_Missense_Mutation_p.T270M	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	308	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.T308M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GTGGACCCCACGCAGCAGGAC	0.582													C|||	2	0.000399361	0.0	0.0	5008	,	,		18215	0.0		0.0	False		,,,				2504	0.002						uc002zbe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(922-924)ACG>ATG		ubiquitin associated and SH3 domain containing,							84.0	83.0	83.0					21																	43838595		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43838595C>T	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.923C>T	21.37:g.43838595C>T	ENSP00000317327:p.Thr308Met					UBASH3A_uc002zbf.2_Missense_Mutation_p.T270M|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.T270M	p.T308M	NM_018961	NP_061834	P57075	UBS3A_HUMAN			7	959	+			308			SH3.		G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.923C>T	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912164	0.33721	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.49432	0.78;0.78;0.78	5.13	2.16	0.27623	Src homology-3 domain (4);	0.091017	0.47852	D	0.000203	T	0.49474	0.1559	L	0.37630	1.12	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	P;P;D	0.65874	0.847;0.847;0.939	T	0.35674	-0.9779	10	0.27785	T	0.31	-10.6164	7.2532	0.26160	0.1211:0.3368:0.4727:0.0693	.	270;270;308	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	M	270;308;270	ENSP00000291535:T270M;ENSP00000317327:T308M;ENSP00000381408:T270M	ENSP00000291535:T270M	T	+	2	0	UBASH3A	42711664	0.001000	0.12720	0.096000	0.21009	0.905000	0.53344	1.318000	0.33643	0.136000	0.18733	0.591000	0.81541	ACG		0.582	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895		11	83	0	0	0	0.008291	0	11	83				
KRTAP10-3	386682	broad.mit.edu	37	21	45978250	45978250	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr21:45978250G>T	ENST00000391620.1	-	1	393	c.349C>A	c.(349-351)Cct>Act	p.P117T	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	117	18 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.P117T(1)		kidney(1)|lung(4)|prostate(1)|skin(1)	7						cagcagacaggcttgcagcag	0.647																																							uc002zfj.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(349-351)CCT>ACT		keratin associated protein 10-3							155.0	154.0	154.0					21																	45978250		2203	4300	6503	SO:0001583	missense	386682					keratin filament		g.chr21:45978250G>T	AJ566383	CCDS42956.1	21q22.3	2007-10-05			ENSG00000212935	ENSG00000212935		"""Keratin associated proteins"""	22968	protein-coding gene	gene with protein product				KRTAP18-3			Standard	NM_198696		Approved	KAP10.3, KAP18.3	uc002zfj.1	P60369	OTTHUMG00000057628	ENST00000391620.1:c.349C>A	21.37:g.45978250G>T	ENSP00000375478:p.Pro117Thr					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.P117T	NM_198696	NP_941969	P60369	KR103_HUMAN			1	394	-			117			10.|18 X 5 AA repeats of C-C-X(3).		A3KN67|Q70LJ4	Missense_Mutation	SNP	ENST00000391620.1	37	c.349C>A	CCDS42956.1	.	.	.	.	.	.	.	.	.	.	g	11.89	1.775103	0.31411	.	.	ENSG00000212935	ENST00000391620	T	0.01725	4.67	3.42	3.42	0.39159	.	.	.	.	.	T	0.06826	0.0174	L	0.52905	1.665	0.27765	N	0.943708	D	0.76494	0.999	D	0.72338	0.977	T	0.11991	-1.0565	9	0.51188	T	0.08	.	10.5885	0.45296	0.0:0.0:1.0:0.0	.	117	P60369	KR103_HUMAN	T	117	ENSP00000375478:P117T	ENSP00000375478:P117T	P	-	1	0	KRTAP10-3	44802678	0.639000	0.27234	0.433000	0.26760	0.404000	0.30871	1.118000	0.31246	1.919000	0.55581	0.499000	0.49734	CCT		0.647	KRTAP10-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128031.1			86	149	1	0	1.80454e-33	0.00361	3.24259e-33	86	149				
KRTAP12-2	353323	broad.mit.edu	37	21	46086610	46086610	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr21:46086610C>G	ENST00000360770.3	-	1	234	c.194G>C	c.(193-195)tGt>tCt	p.C65S	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	65	23 X 5 AA approximate repeats.					keratin filament (GO:0045095)		p.C65S(1)		central_nervous_system(1)|endometrium(1)|lung(3)	5						CATGGGCACACACACAGAAGA	0.627																																							uc002zfu.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(193-195)TGT>TCT		keratin associated protein 12-2							83.0	92.0	89.0					21																	46086610		2192	4286	6478	SO:0001583	missense	353323					keratin filament		g.chr21:46086610C>G	AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"""Keratin associated proteins"""	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.194G>C	21.37:g.46086610C>G	ENSP00000354001:p.Cys65Ser					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.C65S	NM_181684	NP_859012	P59991	KR122_HUMAN			1	235	-			65			23 X 5 AA approximate repeats.|10.		A6NIS1|A6NMS9|Q0VAS4	Missense_Mutation	SNP	ENST00000360770.3	37	c.194G>C	CCDS42965.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.278845	0.40294	.	.	ENSG00000221864	ENST00000360770	T	0.02682	4.2	2.53	2.53	0.30540	.	.	.	.	.	T	0.03651	0.0104	L	0.58969	1.84	0.09310	N	1	P	0.45594	0.862	B	0.36885	0.235	T	0.40403	-0.9565	9	0.54805	T	0.06	.	8.8383	0.35126	0.0:1.0:0.0:0.0	.	65	P59991	KR122_HUMAN	S	65	ENSP00000354001:C65S	ENSP00000354001:C65S	C	-	2	0	KRTAP12-2	44911038	0.602000	0.26916	0.003000	0.11579	0.294000	0.27393	3.020000	0.49643	1.774000	0.52232	0.391000	0.25812	TGT		0.627	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128039.1	NM_181684		22	41	0	0	0	0.002299	0	22	41				
PCNT	5116	broad.mit.edu	37	21	47773118	47773118	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr21:47773118G>A	ENST00000359568.5	+	10	1664	c.1557G>A	c.(1555-1557)ctG>ctA	p.L519L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	519	Glu-rich.				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)		p.L519L(1)		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)					TGGAGCAACTGAGGATTTATT	0.493																																							uc002zji.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(1555-1557)CTG>CTA		pericentrin							68.0	73.0	72.0					21																	47773118		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47773118G>A	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.1557G>A	21.37:g.47773118G>A						PCNT_uc002zjj.2_Silent_p.L401L	p.L519L	NM_006031	NP_006022	O95613	PCNT_HUMAN			10	1664	+	Breast(49;0.112)		519			Glu-rich.|Potential.		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.1557G>A	CCDS33592.1																																																																																				0.493	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		6	60	0	0	0	0.001168	0	6	60				
PCNT	5116	broad.mit.edu	37	21	47819700	47819700	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr21:47819700G>T	ENST00000359568.5	+	25	4888	c.4781G>T	c.(4780-4782)gGg>gTg	p.G1594V	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1594					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)		p.G1594V(1)		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)					ATCGTGAAAGGGCTGGAACAG	0.522																																							uc002zji.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|pancreas(2)	8						c.(4780-4782)GGG>GTG		pericentrin							101.0	102.0	101.0					21																	47819700		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47819700G>T	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.4781G>T	21.37:g.47819700G>T	ENSP00000352572:p.Gly1594Val					PCNT_uc002zjj.2_Missense_Mutation_p.G1476V	p.G1594V	NM_006031	NP_006022	O95613	PCNT_HUMAN			25	4888	+	Breast(49;0.112)		1594			Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.4781G>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	g	11.01	1.512549	0.27123	.	.	ENSG00000160299	ENST00000359568	T	0.56611	0.45	5.63	1.89	0.25635	.	0.000000	0.34268	N	0.004109	T	0.26810	0.0656	N	0.08118	0	0.09310	N	1	B;B	0.19817	0.039;0.023	B;B	0.15870	0.014;0.006	T	0.12502	-1.0545	10	0.40728	T	0.16	.	5.5085	0.16868	0.5761:0.2747:0.1492:0.0	.	1476;1594	O95613-2;O95613	.;PCNT_HUMAN	V	1594	ENSP00000352572:G1594V	ENSP00000352572:G1594V	G	+	2	0	PCNT	46644128	0.378000	0.25114	0.000000	0.03702	0.002000	0.02628	1.478000	0.35442	-0.146000	0.11274	-0.264000	0.10439	GGG		0.522	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		6	88	1	0	5.9392e-07	0.001168	7.67392e-07	6	88				
HIRA	7290	broad.mit.edu	37	22	19376025	19376025	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr22:19376025G>C	ENST00000263208.5	-	10	1245	c.989C>G	c.(988-990)tCc>tGc	p.S330C	HIRA_ENST00000541063.1_Missense_Mutation_p.S286C|HIRA_ENST00000546308.1_Missense_Mutation_p.S286C|HIRA_ENST00000340170.4_Missense_Mutation_p.S330C	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	330					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.S330C(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					ATCCATGATGGATTTGTCAAA	0.443																																							uc002zpf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(988-990)TCC>TGC		HIR histone cell cycle regulation defective							78.0	73.0	75.0					22																	19376025		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19376025G>C	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.989C>G	22.37:g.19376025G>C	ENSP00000263208:p.Ser330Cys					HIRA_uc011agx.1_Missense_Mutation_p.S196C|HIRA_uc010grn.1_Missense_Mutation_p.S330C|HIRA_uc010gro.1_Missense_Mutation_p.S286C|HIRA_uc010grp.2_RNA	p.S330C	NM_003325	NP_003316	P54198	HIRA_HUMAN			10	1209	-	Colorectal(54;0.0993)		330			WD 7.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.989C>G	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.464436	0.84425	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	D;T;D;D	0.81659	-1.52;-0.28;-1.52;-1.52	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89171	0.6639	M	0.73372	2.23	0.80722	D	1	P;D;P	0.76494	0.944;0.999;0.946	P;D;P	0.81914	0.834;0.995;0.712	D	0.89343	0.3655	10	0.56958	D	0.05	-15.3928	18.7611	0.91851	0.0:0.0:1.0:0.0	.	286;330;330	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	C	330;330;286;286	ENSP00000345350:S330C;ENSP00000263208:S330C;ENSP00000446073:S286C;ENSP00000441870:S286C	ENSP00000263208:S330C	S	-	2	0	HIRA	17756025	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.961000	0.93122	2.735000	0.93741	0.655000	0.94253	TCC		0.443	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		3	38	0	0	0	0.009096	0	3	38				
MYO18B	84700	broad.mit.edu	37	22	26400768	26400768	+	Silent	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr22:26400768T>C	ENST00000407587.2	+	42	6589	c.6420T>C	c.(6418-6420)acT>acC	p.T2140T	MYO18B_ENST00000536101.1_Silent_p.T2139T|MYO18B_ENST00000335473.7_Silent_p.T2139T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2139						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.T2140T(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCACAGATACTATGAGGACTC	0.542																																							uc003abz.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(6415-6417)ACT>ACC		myosin XVIIIB							96.0	99.0	98.0					22																	26400768		2125	4267	6392	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26400768T>C	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.6420T>C	22.37:g.26400768T>C						MYO18B_uc003aca.1_Silent_p.T2020T|MYO18B_uc010guy.1_Silent_p.T2021T|MYO18B_uc010guz.1_Silent_p.T2019T|MYO18B_uc011aka.1_Silent_p.T1293T|MYO18B_uc011akb.1_Silent_p.T1652T|MYO18B_uc010gva.1_Silent_p.T122T	p.T2139T	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			42	6667	+			2139					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.6417T>C		.	.	.	.	.	.	.	.	.	.	T	0.065	-1.214677	0.01555	.	.	ENSG00000133454	ENST00000543971	.	.	.	4.33	-7.77	0.01227	.	.	.	.	.	T	0.14960	0.0361	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.25710	-1.0124	4	.	.	.	.	0.7999	0.01073	0.4009:0.1813:0.2323:0.1854	.	.	.	.	P	89	.	.	L	+	2	0	MYO18B	24730768	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.578000	0.02125	-0.955000	0.03636	-0.924000	0.02725	CTA		0.542	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		5	98	0	0	0	0.001168	0	5	98				
TPST2	8459	broad.mit.edu	37	22	26937214	26937214	+	Missense_Mutation	SNP	A	A	C	rs200758682		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr22:26937214A>C	ENST00000338754.4	-	3	653	c.383T>G	c.(382-384)gTg>gGg	p.V128G	TPST2_ENST00000403880.1_Missense_Mutation_p.V128G|TPST2_ENST00000398110.2_Missense_Mutation_p.V128G	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	128					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)	p.V128G(1)		central_nervous_system(1)|large_intestine(1)|lung(5)	7						CTCATCCGTCACCCCCGCCTC	0.672																																							uc003acv.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(382-384)GTG>GGG		tyrosylprotein sulfotransferase 2							34.0	28.0	30.0					22																	26937214		2201	4298	6499	SO:0001583	missense	8459				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr22:26937214A>C	AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.383T>G	22.37:g.26937214A>C	ENSP00000339813:p.Val128Gly					TPST2_uc003acw.2_Missense_Mutation_p.V128G|TPST2_uc003acx.2_Missense_Mutation_p.V128G|TPST2_uc011akf.1_Missense_Mutation_p.V128G	p.V128G	NM_003595	NP_003586	O60704	TPST2_HUMAN			2	551	-			128			Lumenal (Potential).		B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	ENST00000338754.4	37	c.383T>G	CCDS13839.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.681749	0.47991	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868;ENST00000442495	.	.	.	5.33	5.33	0.75918	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000003	T	0.78685	0.4322	M	0.79475	2.455	0.80722	D	1	D	0.64830	0.994	D	0.74674	0.984	T	0.80939	-0.1158	9	0.56958	D	0.05	-31.6206	14.4823	0.67592	1.0:0.0:0.0:0.0	.	128	O60704	TPST2_HUMAN	G	128;128;128;61;128	.	ENSP00000339813:V128G	V	-	2	0	TPST2	25267214	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	6.838000	0.75359	2.023000	0.59567	0.496000	0.49642	GTG		0.672	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320820.3	NM_003595		6	9	0	0	0	0.010729	0	6	9				
RTCB	51493	broad.mit.edu	37	22	32792114	32792114	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr22:32792114C>T	ENST00000216038.5	-	8	1035	c.937G>A	c.(937-939)Gct>Act	p.A313T	RTCB_ENST00000476619.1_5'Flank|RTCB_ENST00000451746.2_Intron	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase									p.A313T(1)									TAGTTCCCAGCAGCTGCCATT	0.493																																							uc003amm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(937-939)GCT>ACT		hypothetical protein LOC51493							223.0	211.0	215.0					22																	32792114		2203	4300	6503	SO:0001583	missense	51493				cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding	g.chr22:32792114C>T	BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"""focal adhesion-associated protein"""	613901	"""chromosome 22 open reading frame 28"""	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.937G>A	22.37:g.32792114C>T	ENSP00000216038:p.Ala313Thr					C22orf28_uc011ama.1_RNA	p.A313T	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN			8	1068	-			313						Missense_Mutation	SNP	ENST00000216038.5	37	c.937G>A	CCDS13905.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235254	0.95207	.	.	ENSG00000100220	ENST00000216038	T	0.55234	0.53	5.64	4.59	0.56863	.	0.093856	0.64402	D	0.000001	T	0.81408	0.4816	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88126	0.2835	10	0.87932	D	0	-26.8027	16.3459	0.83133	0.0:0.8678:0.1322:0.0	.	313	Q9Y3I0	RTCB_HUMAN	T	313	ENSP00000216038:A313T	ENSP00000216038:A313T	A	-	1	0	C22orf28	31122114	1.000000	0.71417	0.848000	0.33437	0.985000	0.73830	7.633000	0.83260	1.325000	0.45301	0.561000	0.74099	GCT		0.493	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075188.3	NM_014306		81	190	0	0	0	0.00361	0	81	190				
ELFN2	114794	broad.mit.edu	37	22	37770693	37770693	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr22:37770693C>A	ENST00000402918.2	-	3	1667	c.882G>T	c.(880-882)tcG>tcT	p.S294S	RP1-63G5.8_ENST00000609322.1_RNA|ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	294	Fibronectin type-III.				negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)	p.S294S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CTGGCCCTGCCGACGCATCCG	0.637																																							uc003asq.3		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(880-882)TCG>TCT		leucine rich repeat containing 62							179.0	153.0	162.0					22																	37770693		2203	4300	6503	SO:0001819	synonymous_variant	114794					cell surface|integral to membrane		g.chr22:37770693C>A	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.882G>T	22.37:g.37770693C>A							p.S294S	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN			3	1668	-	Melanoma(58;0.0574)		294			Fibronectin type-III.|Extracellular (Potential).		Q96PY3	Silent	SNP	ENST00000402918.2	37	c.882G>T	CCDS33642.1																																																																																				0.637	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		44	102	1	0	1.17962e-10	0.00874	1.72724e-10	44	102				
CHL1	10752	broad.mit.edu	37	3	440829	440829	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:440829C>G	ENST00000256509.2	+	26	4025	c.3383C>G	c.(3382-3384)tCa>tGa	p.S1128*	CHL1_ENST00000397491.2_Nonsense_Mutation_p.S1112*	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.S1128*(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GGAAAGTACTCAGGTAAAATT	0.338																																							uc003bou.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(3334-3336)TCA>TGA		cell adhesion molecule with homology to L1CAM							132.0	129.0	130.0					3																	440829		2203	4300	6503	SO:0001587	stop_gained	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:440829C>G	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.3383C>G	3.37:g.440829C>G	ENSP00000256509:p.Ser1128*					CHL1_uc003bot.2_Nonsense_Mutation_p.S1128*|CHL1_uc003bow.1_Nonsense_Mutation_p.S1112*|CHL1_uc011asi.1_Nonsense_Mutation_p.S1075*	p.S1112*	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	25	3606	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	1112			Cytoplasmic (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Nonsense_Mutation	SNP	ENST00000256509.2	37	c.3335C>G	CCDS2556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	45|45	11.468946|11.468946	0.99565|0.99565	.|.	.|.	ENSG00000134121|ENSG00000134121	ENST00000445697|ENST00000256509;ENST00000397491	.|.	.|.	.|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|.	0.81777|.	0.4894|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|.	0.83781|.	0.0225|.	3|.	.|0.87932	.|D	.|0	.|.	19.4226|19.4226	0.94727|0.94727	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	262|1128;1112	.|.	.|ENSP00000256509:S1128X	Q|S	+|+	1|2	0|0	CHL1|CHL1	415829|415829	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	7.286000|7.286000	0.78671|0.78671	2.585000|2.585000	0.87301|0.87301	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.338	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2	NM_006614		11	65	0	0	0	0.010729	0	11	65				
CNTN6	27255	broad.mit.edu	37	3	1424739	1424739	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:1424739G>C	ENST00000446702.2	+	18	2907	c.2280G>C	c.(2278-2280)agG>agC	p.R760S	CNTN6_ENST00000350110.2_Missense_Mutation_p.R760S|CNTN6_ENST00000539053.1_Missense_Mutation_p.R688S			Q9UQ52	CNTN6_HUMAN	contactin 6	760	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R760S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AATCATCAAGGTTTGTCTACA	0.458																																							uc003boz.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.(2278-2280)AGG>AGC		contactin 6 precursor							167.0	153.0	158.0					3																	1424739		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1424739G>C	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2280G>C	3.37:g.1424739G>C	ENSP00000407822:p.Arg760Ser					CNTN6_uc011asj.1_Missense_Mutation_p.R688S|CNTN6_uc003bpa.2_Missense_Mutation_p.R760S	p.R760S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	18	2547	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	760			Fibronectin type-III 2.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.2280G>C	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471172	0.43942	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.52983	0.64;0.64;0.64	6.08	2.29	0.28610	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.372260	0.26307	N	0.025140	T	0.39600	0.1084	M	0.64997	1.995	0.31319	N	0.686206	B	0.20368	0.044	B	0.19148	0.024	T	0.39522	-0.9610	10	0.52906	T	0.07	.	4.4799	0.11762	0.3972:0.0:0.4605:0.1423	.	760	Q9UQ52	CNTN6_HUMAN	S	760;688;760	ENSP00000407822:R760S;ENSP00000442791:R688S;ENSP00000341882:R760S	ENSP00000341882:R760S	R	+	3	2	CNTN6	1399739	0.889000	0.30405	0.085000	0.20634	0.799000	0.45148	0.216000	0.17585	0.142000	0.18901	-0.137000	0.14449	AGG		0.458	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461		25	85	0	0	0	0.003954	0	25	85				
SSUH2	51066	broad.mit.edu	37	3	8673789	8673789	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:8673789G>T	ENST00000317371.4	-	12	1505	c.280C>A	c.(280-282)Ctg>Atg	p.L94M	SSUH2_ENST00000415132.1_Missense_Mutation_p.L94M|SSUH2_ENST00000341795.3_Missense_Mutation_p.L94M|SSUH2_ENST00000544814.1_Missense_Mutation_p.L116M			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	94						cytoplasm (GO:0005737)		p.L94M(1)									AAGGTCTCCAGACGGTACTAA	0.423																																							uc003bqu.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(280-282)CTG>ATG		hypothetical protein LOC51066							92.0	87.0	89.0					3																	8673789		2203	4300	6503	SO:0001583	missense	51066							g.chr3:8673789G>T	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.280C>A	3.37:g.8673789G>T	ENSP00000324551:p.Leu94Met					C3orf32_uc003bqz.2_Missense_Mutation_p.L94M|C3orf32_uc003bqt.2_Missense_Mutation_p.L43M|C3orf32_uc011atg.1_Missense_Mutation_p.L116M|C3orf32_uc003bqv.2_Missense_Mutation_p.L43M|C3orf32_uc003bqw.2_RNA|C3orf32_uc003bqx.2_RNA|C3orf32_uc003bqy.2_Missense_Mutation_p.L94M	p.L94M	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN			5	526	-			94					A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	c.280C>A	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336092	0.60963	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814;ENST00000427408	T;T;T;T;T	0.70869	-0.41;-0.41;-0.49;-0.4;-0.52	5.17	4.3	0.51218	.	0.000000	0.64402	D	0.000001	T	0.80869	0.4706	M	0.78801	2.425	0.36221	D	0.852018	D;D	0.63880	0.989;0.993	P;D	0.63192	0.858;0.912	D	0.85557	0.1225	10	0.87932	D	0	-18.6005	9.7503	0.40473	0.0957:0.0:0.9043:0.0	.	116;94	F5H2S5;Q9Y2M2	.;CC032_HUMAN	M	94;94;94;116;116	ENSP00000339150:L94M;ENSP00000324551:L94M;ENSP00000410757:L94M;ENSP00000439378:L116M;ENSP00000401289:L116M	ENSP00000324551:L94M	L	-	1	2	C3orf32	8648789	1.000000	0.71417	0.939000	0.37840	0.844000	0.47949	4.015000	0.57152	1.184000	0.42957	0.467000	0.42956	CTG		0.423	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931		7	30	1	0	0.00307968	0.00308	0.00330101	7	30				
TSEN2	80746	broad.mit.edu	37	3	12560662	12560662	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:12560662G>T	ENST00000284995.6	+	8	1452	c.1065G>T	c.(1063-1065)gtG>gtT	p.V355V	TSEN2_ENST00000415684.1_Silent_p.V329V|TSEN2_ENST00000314571.7_Silent_p.V329V|TSEN2_ENST00000444864.1_Silent_p.V329V|TSEN2_ENST00000402228.3_Silent_p.V355V|TSEN2_ENST00000454502.2_Silent_p.V296V|C3orf83_ENST00000567514.1_Intron|TSEN2_ENST00000383797.5_Silent_p.V338V	NM_025265.3	NP_079541.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	355					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-intron endonuclease complex (GO:0000214)	lyase activity (GO:0016829)|nucleic acid binding (GO:0003676)|tRNA-intron endonuclease activity (GO:0000213)	p.V355V(1)		central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						AGGGCTGGGTGCCCAAAGTGG	0.448																																							uc003bxc.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1063-1065)GTG>GTT		tRNA-intron nuclease 2 isoform 1							117.0	107.0	110.0					3																	12560662		2203	4300	6503	SO:0001819	synonymous_variant	80746				mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity	g.chr3:12560662G>T	BC019582	CCDS2611.1, CCDS46757.1, CCDS46758.1, CCDS46759.1	3p25.2	2013-08-06	2013-08-06		ENSG00000154743	ENSG00000154743		"""tRNA splicing endonuclease subunits"""	28422	protein-coding gene	gene with protein product		608753	"""tRNA splicing endonuclease 2 homolog (SEN2, S. cerevisiae)"", ""tRNA splicing endonuclease 2 homolog (S. cerevisiae)"""			15109492	Standard	NM_025265		Approved	SEN2, SEN2L, MGC2776	uc003bxb.3	Q8NCE0	OTTHUMG00000129765	ENST00000284995.6:c.1065G>T	3.37:g.12560662G>T						TSEN2_uc003bwy.2_Silent_p.V355V|TSEN2_uc003bwz.2_Silent_p.V296V|TSEN2_uc003bxa.2_Silent_p.V329V|TSEN2_uc011auq.1_Silent_p.V329V|TSEN2_uc003bxb.2_Silent_p.V355V|TSEN2_uc011aur.1_Silent_p.V264V	p.V355V	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN			8	1452	+			355					B7Z6K1|C9IZI7|G5E9Q3|Q8WTW7|Q9BPU7	Silent	SNP	ENST00000284995.6	37	c.1065G>T	CCDS2611.1																																																																																				0.448	TSEN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251981.1	NM_025265		34	113	1	0	1.26612e-14	0.003271	2.01498e-14	34	113				
IQSEC1	9922	broad.mit.edu	37	3	12950781	12950781	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:12950781C>A	ENST00000273221.4	-	11	2828	c.2612G>T	c.(2611-2613)aGg>aTg	p.R871M		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	871					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACACTCTATCCTGTGCTTCTC	0.542																																							uc003bxt.2		NA																	0				ovary(1)	1						c.(2611-2613)AGG>ATG		IQ motif and Sec7 domain 1 isoform b							131.0	133.0	132.0					3																	12950781		2203	4300	6503	SO:0001583	missense	9922				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity	g.chr3:12950781C>A	BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.2612G>T	3.37:g.12950781C>A	ENSP00000273221:p.Arg871Met					IQSEC1_uc003bxu.3_Missense_Mutation_p.R749M|IQSEC1_uc011auw.1_Missense_Mutation_p.R857M	p.R871M	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN			11	2621	-			871			Potential.		O94863|Q96D85	Missense_Mutation	SNP	ENST00000273221.4	37	c.2612G>T	CCDS33703.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.8|22.8	4.341822|4.341822	0.81911|0.81911	.|.	.|.	ENSG00000144711|ENSG00000144711	ENST00000450726|ENST00000273221;ENST00000435445;ENST00000429247	.|T;T	.|0.52295	.|0.67;0.67	4.86|4.86	3.96|3.96	0.45880|0.45880	.|.	.|0.047001	.|0.85682	.|D	.|0.000000	T|T	0.69324|0.69324	0.3098|0.3098	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;D;D	.|0.73708	.|0.981;0.981;0.959	T|T	0.75334|0.75334	-0.3354|-0.3354	4|9	.|0.87932	.|D	.|0	.|.	15.1061|15.1061	0.72322|0.72322	0.0:0.8574:0.1426:0.0|0.0:0.8574:0.1426:0.0	.|.	.|857;857;871	.|E9PG60;C9JMG9;Q6DN90	.|.;.;IQEC1_HUMAN	H|M	871|871;857;857	.|ENSP00000273221:R871M;ENSP00000402299:R857M	.|ENSP00000273221:R871M	Q|R	-|-	3|2	2|0	IQSEC1|IQSEC1	12925781|12925781	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	1.128000|1.128000	0.42052|0.42052	0.655000|0.655000	0.94253|0.94253	CAG|AGG		0.542	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339865.2	NM_014869		29	141	1	0	8.16721e-17	0.010818	1.35128e-16	29	141				
KCNH8	131096	broad.mit.edu	37	3	19554549	19554549	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:19554549G>T	ENST00000328405.2	+	13	2433	c.2167G>T	c.(2167-2169)Gag>Tag	p.E723*		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	723	Poly-Glu.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.E723*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ggaggaagaggaggCAGTCTC	0.512																																					NSCLC(124;1625 1765 8018 24930 42026)	NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(4)|ovary(1)	5						c.(2167-2169)GAG>TAG		potassium voltage-gated channel, subfamily H,							61.0	51.0	54.0					3																	19554549		2203	4300	6503	SO:0001587	stop_gained	131096					integral to membrane	two-component sensor activity	g.chr3:19554549G>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2167G>T	3.37:g.19554549G>T	ENSP00000328813:p.Glu723*					KCNH8_uc010hex.1_Nonsense_Mutation_p.E184*	p.E723*	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			13	2362	+			723			Poly-Glu.|Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Nonsense_Mutation	SNP	ENST00000328405.2	37	c.2167G>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	41	8.539419	0.98854	.	.	ENSG00000183960	ENST00000328405	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1866	0.81959	0.0:0.0:1.0:0.0	.	.	.	.	X	723	.	.	E	+	1	0	KCNH8	19529553	1.000000	0.71417	0.998000	0.56505	0.803000	0.45373	6.394000	0.73223	2.559000	0.86315	0.585000	0.79938	GAG		0.512	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		11	36	1	0	1.58986e-06	0.008291	2.00704e-06	11	36				
DYNC1LI1	51143	broad.mit.edu	37	3	32587436	32587436	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:32587436G>C	ENST00000273130.4	-	3	345	c.242C>G	c.(241-243)aCa>aGa	p.T81R	DYNC1LI1_ENST00000432458.2_Intron	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	81					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.T81R(1)		kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TATTAAGCTTGTTTTTCCAGC	0.323																																							uc003cfb.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(241-243)ACA>AGA		dynein, cytoplasmic 1, light intermediate chain							104.0	104.0	104.0					3																	32587436		2203	4299	6502	SO:0001583	missense	51143				cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	g.chr3:32587436G>C	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.242C>G	3.37:g.32587436G>C	ENSP00000273130:p.Thr81Arg					DYNC1LI1_uc011axh.1_Intron	p.T81R	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN			3	330	-			81			ATP (Potential).		A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	ENST00000273130.4	37	c.242C>G	CCDS2654.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805718	0.90623	.	.	ENSG00000144635	ENST00000273130;ENST00000413350;ENST00000424991	T;T;T	0.54675	0.56;0.56;1.64	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.63931	0.2553	L	0.58428	1.81	0.80722	D	1	B	0.29508	0.246	P	0.44447	0.45	T	0.66783	-0.5836	10	0.87932	D	0	-15.3809	18.7588	0.91842	0.0:0.0:1.0:0.0	.	81	Q9Y6G9	DC1L1_HUMAN	R	81;30;122	ENSP00000273130:T81R;ENSP00000390507:T30R;ENSP00000409019:T122R	ENSP00000273130:T81R	T	-	2	0	DYNC1LI1	32562440	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.420000	0.97426	2.498000	0.84270	0.585000	0.79938	ACA		0.323	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	NM_016141		3	55	0	0	0	0.004672	0	3	55				
ARPP21	10777	broad.mit.edu	37	3	35785456	35785456	+	Splice_Site	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:35785456A>T	ENST00000187397.4	+	18	2487	c.2031A>T	c.(2029-2031)gcA>gcT	p.A677A	MIR128-2_ENST00000384893.1_RNA|ARPP21_ENST00000417925.1_Splice_Site_p.A678A|ARPP21_ENST00000444190.1_Splice_Site_p.A658A|ARPP21_ENST00000337271.5_Splice_Site_p.A658A|ARPP21_ENST00000458225.1_Splice_Site_p.A678A	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	677	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.A677A(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CACAGCAAGCAGGTACTTGGA	0.498																																							uc003cgb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(2029-2031)GCA>GCT		cyclic AMP-regulated phosphoprotein, 21 kD							98.0	93.0	95.0					3																	35785456		2203	4300	6503	SO:0001630	splice_region_variant	10777					cytoplasm	nucleic acid binding	g.chr3:35785456A>T	AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2032+1A>T	3.37:g.35785456A>T						ARPP21_uc003cga.2_Silent_p.A658A|ARPP21_uc011axy.1_Silent_p.A678A|ARPP21_uc003cgf.2_Silent_p.A513A|ARPP21_uc003cgg.2_Silent_p.A200A|uc011axz.1_5'Flank|MIR128-2_hsa-mir-128-2|MI0000727_5'Flank	p.A677A	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN			18	2295	+			677			Gln-rich.		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Silent	SNP	ENST00000187397.4	37	c.2031A>T	CCDS2661.1																																																																																				0.498	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399	Silent	6	93	0	0	0	0.001168	0	6	93				
STAC	6769	broad.mit.edu	37	3	36485037	36485037	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:36485037G>T	ENST00000273183.3	+	2	593	c.293G>T	c.(292-294)aGg>aTg	p.R98M	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.R98M	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	98					cellular response to heat (GO:0034605)|intracellular signal transduction (GO:0035556)|signal transduction (GO:0007165)	cytosol (GO:0005829)	metal ion binding (GO:0046872)	p.R98M(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						ACACCCGCCAGGGCTGGTCTG	0.552																																							uc003cgh.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(292-294)AGG>ATG		SH3 and cysteine rich domain							110.0	102.0	105.0					3																	36485037		2203	4300	6503	SO:0001583	missense	6769				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	g.chr3:36485037G>T	D86640	CCDS2662.1	3p22.3	2007-06-08			ENSG00000144681	ENSG00000144681			11353	protein-coding gene	gene with protein product		602317	"""src homology three (SH3) and cysteine rich domain"""			8954993, 10393425	Standard	XM_006713308		Approved	STAC1	uc003cgh.1	Q99469	OTTHUMG00000130798	ENST00000273183.3:c.293G>T	3.37:g.36485037G>T	ENSP00000273183:p.Arg98Met					STAC_uc010hgd.1_RNA|STAC_uc011aya.1_Missense_Mutation_p.R98M	p.R98M	NM_003149	NP_003140	Q99469	STAC_HUMAN			2	332	+			98					B2R8S8	Missense_Mutation	SNP	ENST00000273183.3	37	c.293G>T	CCDS2662.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541821	0.45280	.	.	ENSG00000144681	ENST00000273183;ENST00000457375;ENST00000544687;ENST00000434649	T;T;T	0.77489	-1.1;0.88;0.72	4.49	3.6	0.41247	.	0.060908	0.64402	D	0.000008	T	0.76891	0.4051	L	0.40543	1.245	0.24132	N	0.995761	P;D	0.64830	0.79;0.994	B;P	0.57371	0.436;0.819	T	0.66480	-0.5913	10	0.49607	T	0.09	.	7.5382	0.27723	0.2814:0.0:0.7186:0.0	.	98;98	E9PEA7;Q99469	.;STAC_HUMAN	M	98;98;30;87	ENSP00000273183:R98M;ENSP00000393713:R98M;ENSP00000398403:R87M	ENSP00000273183:R98M	R	+	2	0	STAC	36460041	0.981000	0.34729	0.996000	0.52242	0.551000	0.35334	1.521000	0.35910	1.151000	0.42436	0.557000	0.71058	AGG		0.552	STAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253338.2	NM_003149		24	84	1	0	3.28513e-13	0.003954	5.07348e-13	24	84				
ULK4	54986	broad.mit.edu	37	3	41953149	41953149	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:41953149C>A	ENST00000301831.4	-	10	1361	c.899G>T	c.(898-900)aGa>aTa	p.R300I	ULK4_ENST00000420927.1_Missense_Mutation_p.R300I	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	300					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R300I(2)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CATAGTGTTTCTGCTATTATT	0.388																																							uc003ckv.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(898-900)AGA>ATA		unc-51-like kinase 4							107.0	100.0	102.0					3																	41953149		1836	4086	5922	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41953149C>A	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.899G>T	3.37:g.41953149C>A	ENSP00000301831:p.Arg300Ile					ULK4_uc003ckw.2_Missense_Mutation_p.R300I|ULK4_uc003ckx.1_Missense_Mutation_p.R300I	p.R300I	NM_017886	NP_060356	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	10	1100	-			300					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.899G>T	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819595	0.32145	.	.	ENSG00000168038	ENST00000301831;ENST00000420927	T;T	0.68025	0.53;-0.3	4.96	2.18	0.27775	Protein kinase-like domain (1);	0.733633	0.13445	N	0.387351	T	0.59865	0.2225	M	0.62723	1.935	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.10450	0.005;0.005	T	0.52223	-0.8604	10	0.42905	T	0.14	.	7.2005	0.25879	0.0:0.7143:0.0:0.2857	.	300;300	B4E2M4;Q96C45	.;ULK4_HUMAN	I	300	ENSP00000301831:R300I;ENSP00000412187:R300I	ENSP00000301831:R300I	R	-	2	0	ULK4	41928153	0.003000	0.15002	0.007000	0.13788	0.005000	0.04900	0.965000	0.29319	0.515000	0.28320	0.543000	0.68304	AGA		0.388	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		19	84	1	0	4.35082e-09	0.010504	6.09698e-09	19	84				
WDR6	11180	broad.mit.edu	37	3	49049969	49049969	+	Silent	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:49049969A>C	ENST00000608424.1	+	2	1041	c.1002A>C	c.(1000-1002)ggA>ggC	p.G334G	WDR6_ENST00000448293.1_Silent_p.G283G|WDR6_ENST00000395474.3_Silent_p.G364G|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_3'UTR			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	334					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.G334G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GGTACCGGGGATTGGGGGTCT	0.612																																							uc003cvj.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1090-1092)GGA>GGC		WD repeat domain 6 protein							59.0	65.0	63.0					3																	49049969		2203	4300	6503	SO:0001819	synonymous_variant	11180				cell cycle arrest|negative regulation of cell proliferation	cytoplasm		g.chr3:49049969A>C	AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1002A>C	3.37:g.49049969A>C						WDR6_uc011bbx.1_Silent_p.G235G|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Silent_p.G308G|WDR6_uc011bbz.1_Silent_p.G283G	p.G364G	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN		Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)	2	1230	+			334			WD 5.		B4DHK2|Q3MIT1|Q9UF63	Silent	SNP	ENST00000608424.1	37	c.1092A>C																																																																																					0.612	WDR6-024	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471652.1			4	79	0	0	0	0.000602	0	4	79				
C3orf67	200844	broad.mit.edu	37	3	58849577	58849577	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:58849577G>C	ENST00000482387.1	-	8	1021	c.925C>G	c.(925-927)Ctg>Gtg	p.L309V	RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.L309V|C3orf67_ENST00000472469.1_Missense_Mutation_p.L216V|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	309								p.L309V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTGGATGCCAGATATGAAATG	0.433																																							uc003dkt.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(925-927)CTG>GTG		hypothetical protein LOC200844							51.0	53.0	52.0					3																	58849577		2203	4300	6503	SO:0001583	missense	200844							g.chr3:58849577G>C	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.925C>G	3.37:g.58849577G>C	ENSP00000417122:p.Leu309Val					C3orf67_uc003dks.1_Missense_Mutation_p.L124V|uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.L124V|C3orf67_uc003dkw.2_Missense_Mutation_p.L204V	p.L309V	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	12	1334	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	309					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.925C>G		.	.	.	.	.	.	.	.	.	.	G	4.917	0.170402	0.09391	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000394474;ENST00000472469	T;T;T	0.21191	2.2;2.17;2.02	5.13	-1.62	0.08372	.	1.164320	0.06199	N	0.682948	T	0.25865	0.0630	M	0.68952	2.095	0.09310	N	1	P;B;D	0.56035	0.827;0.288;0.974	B;B;P	0.48189	0.359;0.168;0.57	T	0.33394	-0.9870	10	0.21540	T	0.41	1.0067	6.321	0.21217	0.5108:0.1316:0.3576:0.0	.	216;309;309	C9J3M8;Q6ZVT6-2;Q6ZVT6	.;.;CC067_HUMAN	V	309;309;14;216	ENSP00000295966:L309V;ENSP00000417122:L309V;ENSP00000417271:L216V	ENSP00000295966:L309V	L	-	1	2	C3orf67	58824617	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.105000	0.15333	-0.459000	0.07013	-0.266000	0.10368	CTG		0.433	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463		3	75	0	0	0	0.004672	0	3	75				
ROBO1	6091	broad.mit.edu	37	3	78717633	78717633	+	Splice_Site	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:78717633C>A	ENST00000464233.1	-	12	1744		c.e12+1		ROBO1_ENST00000467549.1_Splice_Site|ROBO1_ENST00000495273.1_Splice_Site|ROBO1_ENST00000436010.2_Splice_Site	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.?(3)|p.G544V(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATTTACTTTACCTTGAACTTC	0.428																																							uc003dqe.2		NA																	4	Unknown(3)|Substitution - Missense(1)		lung(4)	large_intestine(2)	2						c.e12+1		roundabout 1 isoform a							88.0	84.0	86.0					3																	78717633		1914	4128	6042	SO:0001630	splice_region_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78717633C>A	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.1630+1G>T	3.37:g.78717633C>A						ROBO1_uc003dqb.2_Splice_Site_p.E505_splice|ROBO1_uc003dqc.2_Splice_Site_p.E508_splice|ROBO1_uc003dqd.2_Splice_Site_p.E508_splice|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Splice_Site_p.E116_splice|ROBO1_uc003dqf.1_Splice_Site_p.E223_splice	p.E544_splice	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	12	1838	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)						B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Splice_Site	SNP	ENST00000464233.1	37	c.1630_splice	CCDS54611.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.26|17.26	3.344531|3.344531	0.61073|0.61073	.|.	.|.	ENSG00000169855|ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549|ENST00000398414;ENST00000495961	.|T	.|0.76578	.|-1.03	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|.	.|.	.|.	.|.	.|D	.|0.85940	.|0.5814	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.84806	.|0.0787	.|5	.|.	.|.	.|.	.|.	19.4327|19.4327	0.94778|0.94778	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|V	-1|544;77	.|ENSP00000418553:G77V	.|.	.|G	-|-	.|2	.|0	ROBO1|ROBO1	78800323|78800323	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.546000|0.546000	0.35178|0.35178	7.743000|7.743000	0.85020|0.85020	2.590000|2.590000	0.87494|0.87494	0.655000|0.655000	0.94253|0.94253	.|GGT		0.428	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	Intron	12	48	1	0	9.05144e-12	0.001855	1.36754e-11	12	48				
EPHA3	2042	broad.mit.edu	37	3	89390222	89390222	+	Splice_Site	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:89390222G>A	ENST00000336596.2	+	4	1195		c.e4+1		EPHA3_ENST00000452448.2_Splice_Site|EPHA3_ENST00000494014.1_Splice_Site	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3						cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.?(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCTTGTACCCGTGAGTAGTTT	0.443										TSP Lung(6;0.00050)																													uc003dqy.2		NA																	2	Unknown(2)		lung(2)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.e4+1		ephrin receptor EphA3 isoform a precursor							129.0	132.0	131.0					3																	89390222		2203	4300	6503	SO:0001630	splice_region_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89390222G>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.970+1G>A	3.37:g.89390222G>A		TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Splice_Site_p.R324_splice|EPHA3_uc010hon.1_Splice_Site	p.R324_splice	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	4	1195	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)						Q9H2V3|Q9H2V4	Splice_Site	SNP	ENST00000336596.2	37	c.970_splice	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571382	0.86542	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EPHA3	89472912	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	.		0.443	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	Intron	5	183	0	0	0	0.000602	0	5	183				
PROS1	5627	broad.mit.edu	37	3	93619732	93619732	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:93619732C>T	ENST00000394236.3	-	7	959	c.643G>A	c.(643-645)Gct>Act	p.A215T	PROS1_ENST00000407433.1_Missense_Mutation_p.A84T	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	215	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.A215T(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TTGCACACAGCTGTGCCACAA	0.388																																							uc003drb.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(643-645)GCT>ACT		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						76.0	70.0	72.0					3																	93619732		2203	4298	6501	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93619732C>T		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.643G>A	3.37:g.93619732C>T	ENSP00000377783:p.Ala215Thr					PROS1_uc010hoo.2_Missense_Mutation_p.A84T|PROS1_uc003dqz.3_Missense_Mutation_p.A84T	p.A215T	NM_000313	NP_000304	P07225	PROS_HUMAN			7	984	-			215			EGF-like 3; calcium-binding (Potential).		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.643G>A	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898923	0.91962	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	D;D	0.87256	-2.23;-2.23	4.19	4.19	0.49359	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.058127	0.64402	D	0.000002	D	0.93436	0.7906	M	0.80746	2.51	0.53005	D	0.999964	D	0.89917	1.0	D	0.91635	0.999	D	0.94319	0.7552	10	0.66056	D	0.02	.	17.061	0.86547	0.0:1.0:0.0:0.0	.	215	P07225	PROS_HUMAN	T	215;84	ENSP00000377783:A215T;ENSP00000385794:A84T	ENSP00000377783:A215T	A	-	1	0	PROS1	95102422	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.018000	0.70811	2.341000	0.79615	0.591000	0.81541	GCT		0.388	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		16	43	0	0	0	0.003163	0	16	43				
NSUN3	63899	broad.mit.edu	37	3	93802949	93802949	+	Splice_Site	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:93802949A>T	ENST00000314622.4	+	3	333		c.e3-1			NM_022072.3	NP_071355.1	Q9H649	NSUN3_HUMAN	NOP2/Sun domain family, member 3								methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						TTCTATTTCTAGGGAGATACT	0.328																																							uc003drl.1		NA																	1	Unknown(1)		lung(1)	skin(1)	1						c.e3-2		NOL1/NOP2/Sun domain family, member 3							30.0	31.0	31.0					3																	93802949		2200	4300	6500	SO:0001630	splice_region_variant	63899						methyltransferase activity	g.chr3:93802949A>T	BC020602	CCDS2927.1	3q11.2	2009-11-23	2009-11-23		ENSG00000178694	ENSG00000178694		"""NOP2/Sun domain containing"""	26208	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 3"", ""NOL1/NOP2/Sun domain family, member 3"""			12477932	Standard	NM_022072		Approved	FLJ22609	uc003drl.1	Q9H649	OTTHUMG00000159025	ENST00000314622.4:c.123-1A>T	3.37:g.93802949A>T							p.R41_splice	NM_022072	NP_071355	Q9H649	NSUN3_HUMAN			3	239	+								Q6PG41|Q8IXG9|Q9H6M2	Splice_Site	SNP	ENST00000314622.4	37	c.123_splice	CCDS2927.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.615478	0.28801	.	.	ENSG00000178694	ENST00000314622	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8251	0.78698	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NSUN3	95285639	1.000000	0.71417	0.548000	0.28192	0.040000	0.13550	7.824000	0.86668	2.216000	0.71823	0.533000	0.62120	.		0.328	NSUN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352934.1	NM_022072	Intron	10	33	0	0	0	0.006214	0	10	33				
EPHA6	285220	broad.mit.edu	37	3	97311551	97311551	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:97311551G>T	ENST00000514100.1	+	9	900	c.658G>T	c.(658-660)Gga>Tga	p.G220*	EPHA6_ENST00000442602.2_Nonsense_Mutation_p.G194*|EPHA6_ENST00000389672.5_Nonsense_Mutation_p.G828*|EPHA6_ENST00000502694.1_Nonsense_Mutation_p.G220*	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	734						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)	p.G220*(1)|p.G734*(1)|p.G828*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGTGCCAGGGGGAGGATCTTT	0.542																																							uc010how.1		NA																	3	Substitution - Nonsense(3)		lung(3)	stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(2482-2484)GGA>TGA		EPH receptor A6 isoform a							41.0	42.0	42.0					3																	97311551		1840	4084	5924	SO:0001587	stop_gained	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97311551G>T	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.658G>T	3.37:g.97311551G>T	ENSP00000421711:p.Gly220*					EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_Nonsense_Mutation_p.G194*|EPHA6_uc003drs.3_Nonsense_Mutation_p.G220*|EPHA6_uc003drr.3_Nonsense_Mutation_p.G220*|EPHA6_uc003drt.2_Nonsense_Mutation_p.G220*|EPHA6_uc010hox.1_Intron	p.G828*	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			12	2525	+			733			Protein kinase.|Cytoplasmic (Potential).		D6RAL5	Nonsense_Mutation	SNP	ENST00000514100.1	37	c.2482G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.430411	0.97559	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	.	.	.	6.16	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	14.1605	0.65443	0.0689:0.0:0.9311:0.0	.	.	.	.	X	828;220;220;194	.	ENSP00000374323:G828X	G	+	1	0	EPHA6	98794241	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.417000	0.59822	1.627000	0.50400	0.650000	0.86243	GGA		0.542	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		12	41	1	0	1.5842e-08	0.001855	2.17619e-08	12	41				
CRYBG3	131544	broad.mit.edu	37	3	97605523	97605523	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:97605523T>C	ENST00000182096.4	+	5	1421	c.1357T>C	c.(1357-1359)Tgt>Cgt	p.C453R		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2401							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TGACCCAGCCTGTTGTCCTGT	0.418																																							uc003drx.2		NA																	0					0						c.(1357-1359)TGT>CGT		beta-gamma crystallin domain containing 3							142.0	134.0	136.0					3																	97605523		1858	4098	5956	SO:0001583	missense	131544							g.chr3:97605523T>C			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.1357T>C	3.37:g.97605523T>C	ENSP00000182096:p.Cys453Arg						p.C453R	NM_153605	NP_705833					5	1421	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.1357T>C		.	.	.	.	.	.	.	.	.	.	T	2.619	-0.288902	0.05605	.	.	ENSG00000080200	ENST00000182096	T	0.75704	-0.96	5.86	3.42	0.39159	Beta/gamma crystallin (3);Gamma-crystallin-related (1);	0.766655	0.12579	N	0.456578	T	0.62073	0.2398	L	0.40543	1.245	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.54912	-0.8222	10	0.62326	D	0.03	.	3.3724	0.07225	0.1295:0.0752:0.1523:0.6431	.	453	Q68DQ2	CRBG3_HUMAN	R	453	ENSP00000182096:C453R	ENSP00000182096:C453R	C	+	1	0	CRYBG3	99088213	0.023000	0.18921	0.006000	0.13384	0.126000	0.20510	0.692000	0.25482	0.447000	0.26695	0.533000	0.62120	TGT		0.418	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		8	161	0	0	0	0.006214	0	8	161				
OR5H15	403274	broad.mit.edu	37	3	97887750	97887750	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:97887750G>A	ENST00000356526.2	+	1	207	c.207G>A	c.(205-207)gtG>gtA	p.V69V		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V69V(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TAGCTTTTGTGGATGCTTGGA	0.398																																							uc011bgu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(205-207)GTG>GTA		olfactory receptor, family 5, subfamily H,							75.0	76.0	76.0					3																	97887750		2201	4277	6478	SO:0001819	synonymous_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887750G>A		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.207G>A	3.37:g.97887750G>A							p.V69V	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	207	+			69			Helical; Name=2; (Potential).			Silent	SNP	ENST00000356526.2	37	c.207G>A	CCDS33799.1																																																																																				0.398	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			36	175	0	0	0	0.00361	0	36	175				
OR5H15	403274	broad.mit.edu	37	3	97888436	97888436	+	Missense_Mutation	SNP	T	T	G	rs543199148	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:97888436T>G	ENST00000356526.2	+	1	893	c.893T>G	c.(892-894)aTa>aGa	p.I298R		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I298R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						AAGCAAGTCATAGTTTCATTC	0.318																																							uc011bgu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(892-894)ATA>AGA		olfactory receptor, family 5, subfamily H,							50.0	54.0	53.0					3																	97888436		2199	4296	6495	SO:0001583	missense	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97888436T>G		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.893T>G	3.37:g.97888436T>G	ENSP00000373195:p.Ile298Arg						p.I298R	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	893	+			298			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000356526.2	37	c.893T>G	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	4.407	0.075129	0.08485	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.20200	2.09	2.48	1.18	0.20946	.	0.119628	0.37348	N	0.002122	T	0.07503	0.0189	N	0.02665	-0.54	0.09310	N	1	P	0.37985	0.613	B	0.38428	0.273	T	0.18713	-1.0328	10	0.56958	D	0.05	.	5.1697	0.15103	0.5105:0.0:0.0:0.4895	.	298	A6NDH6	O5H15_HUMAN	R	298	ENSP00000373195:I298R	ENSP00000373195:I298R	I	+	2	0	OR5H15	99371126	0.000000	0.05858	0.006000	0.13384	0.007000	0.05969	-1.042000	0.03539	0.153000	0.19213	0.155000	0.16302	ATA		0.318	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			4	101	0	0	0	0.009096	0	4	101				
OR5K4	403278	broad.mit.edu	37	3	98072782	98072782	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:98072782G>T	ENST00000354924.2	+	1	85	c.85G>T	c.(85-87)Gtg>Ttg	p.V29L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V29L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GCTTCTGTTTGTGGTGTTCTC	0.443																																							uc011bgv.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(85-87)GTG>TTG		olfactory receptor, family 5, subfamily K,							182.0	179.0	180.0					3																	98072782		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98072782G>T		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.85G>T	3.37:g.98072782G>T	ENSP00000347003:p.Val29Leu						p.V29L	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			1	85	+			29			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000354924.2	37	c.85G>T	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.659288	0.00772	.	.	ENSG00000196098	ENST00000354924	T	0.00448	7.38	4.77	-5.4	0.02656	.	2.479560	0.03339	N	0.194516	T	0.00144	0.0004	N	0.03253	-0.375	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.39623	-0.9605	10	0.02654	T	1	-0.0116	1.8167	0.03102	0.2242:0.2922:0.3471:0.1366	.	29	A6NMS3	OR5K4_HUMAN	L	29	ENSP00000347003:V29L	ENSP00000347003:V29L	V	+	1	0	OR5K4	99555472	0.000000	0.05858	0.020000	0.16555	0.505000	0.33919	-3.467000	0.00461	-1.123000	0.02940	-0.199000	0.12753	GTG		0.443	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			38	245	1	0	6.97489e-18	0.004878	1.1707e-17	38	245				
IMPG2	50939	broad.mit.edu	37	3	100976422	100976422	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:100976422C>G	ENST00000193391.7	-	10	1291	c.1104G>C	c.(1102-1104)ctG>ctC	p.L368L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	368					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.L368L(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AAGAGTTCCCCAGCAAAAAAT	0.398																																							uc003duq.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1102-1104)CTG>CTC		interphotoreceptor matrix proteoglycan 2							96.0	101.0	99.0					3																	100976422		2203	4300	6503	SO:0001819	synonymous_variant	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100976422C>G	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.1104G>C	3.37:g.100976422C>G						IMPG2_uc011bhe.1_Silent_p.L231L	p.L368L	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			10	1307	-			368			Extracellular (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	c.1104G>C	CCDS2940.1																																																																																				0.398	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			42	144	0	0	0	0.006999	0	42	144				
PHLDB2	90102	broad.mit.edu	37	3	111603652	111603652	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:111603652G>T	ENST00000431670.2	+	2	1139	c.728G>T	c.(727-729)aGc>aTc	p.S243I	PHLDB2_ENST00000412622.1_Missense_Mutation_p.S243I|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S243I|PHLDB2_ENST00000477695.1_Missense_Mutation_p.S243I|PHLDB2_ENST00000478922.1_Missense_Mutation_p.S243I|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S243I|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S270I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	243						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.S243I(2)|p.S270I(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AAGTACTCCAGCAGCAGCCTG	0.498																																							uc010hqa.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(4)|skin(2)	6						c.(727-729)AGC>ATC		pleckstrin homology-like domain, family B,							67.0	70.0	69.0					3																	111603652		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111603652G>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.728G>T	3.37:g.111603652G>T	ENSP00000405405:p.Ser243Ile					PHLDB2_uc003dyc.2_Missense_Mutation_p.S270I|PHLDB2_uc003dyd.2_Missense_Mutation_p.S243I|PHLDB2_uc003dyg.2_Missense_Mutation_p.S243I|PHLDB2_uc003dyh.2_Missense_Mutation_p.S243I|PHLDB2_uc003dye.3_Missense_Mutation_p.S243I|PHLDB2_uc003dyf.3_Missense_Mutation_p.S243I	p.S243I	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			2	1139	+			243					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.728G>T	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576417	0.28092	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.49;1.48;1.48	5.4	5.4	0.78164	.	0.466094	0.25272	N	0.031872	T	0.27454	0.0674	L	0.27053	0.805	0.19575	N	0.999965	B;P;P;B;B	0.41569	0.09;0.755;0.589;0.091;0.091	B;B;B;B;B	0.41088	0.009;0.347;0.272;0.014;0.048	T	0.22208	-1.0223	10	0.87932	D	0	.	16.4564	0.84019	0.0:0.0:1.0:0.0	.	243;243;243;243;270	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	I	270;270;243;243;243;243;243;243;243	ENSP00000377500:S270I;ENSP00000405405:S243I;ENSP00000405292:S243I;ENSP00000418296:S243I;ENSP00000377502:S243I;ENSP00000418319:S243I	ENSP00000352764:S270I	S	+	2	0	PHLDB2	113086342	0.991000	0.36638	0.796000	0.32109	0.525000	0.34531	3.252000	0.51461	2.703000	0.92315	0.655000	0.94253	AGC		0.498	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		23	85	1	0	3.28513e-13	0.003954	5.07348e-13	23	85				
PHLDB2	90102	broad.mit.edu	37	3	111686524	111686524	+	Splice_Site	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:111686524G>T	ENST00000431670.2	+	15	3579		c.e15-1		PHLDB2_ENST00000495180.1_Splice_Site|PHLDB2_ENST00000393923.3_Splice_Site|PHLDB2_ENST00000393925.3_Splice_Site|PHLDB2_ENST00000412622.1_Splice_Site|PHLDB2_ENST00000481953.1_Splice_Site	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2							cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.?(3)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATAATGTTTAGGAACGGGAAA	0.368																																							uc010hqa.2		NA																	3	Unknown(3)		lung(3)	ovary(4)|skin(2)	6						c.e15-1		pleckstrin homology-like domain, family B,							34.0	33.0	33.0					3																	111686524		2203	4300	6503	SO:0001630	splice_region_variant	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111686524G>T		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.3169-1G>T	3.37:g.111686524G>T						PHLDB2_uc003dyc.2_Splice_Site_p.E1041_splice|PHLDB2_uc003dyd.2_Splice_Site_p.E1014_splice|PHLDB2_uc003dyg.2_Splice_Site_p.E1057_splice|PHLDB2_uc003dyh.2_Splice_Site_p.E1014_splice|PHLDB2_uc003dyi.2_Splice_Site_p.E548_splice|PHLDB2_uc003dyj.2_Splice_Site_p.E112_splice	p.E1057_splice	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			15	3580	+								A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Splice_Site	SNP	ENST00000431670.2	37	c.3169_splice	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414438	0.83449	.	.	ENSG00000144824	ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9514	0.92642	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHLDB2	113169214	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.000000	0.93564	2.840000	0.97914	0.655000	0.94253	.		0.368	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753	Intron	3	25	1	0	6.4e-05	0.004672	7.4174e-05	3	25				
GOLGB1	2804	broad.mit.edu	37	3	121417301	121417301	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:121417301T>A	ENST00000340645.5	-	13	2179	c.2054A>T	c.(2053-2055)gAg>gTg	p.E685V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E690V	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	685					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E685V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CCTTTCCAACTCATCCTGATG	0.343																																							uc003eei.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(2053-2055)GAG>GTG		golgi autoantigen, golgin subfamily b,							68.0	69.0	69.0					3																	121417301		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121417301T>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2054A>T	3.37:g.121417301T>A	ENSP00000341848:p.Glu685Val					GOLGB1_uc010hrc.2_Missense_Mutation_p.E690V|GOLGB1_uc003eej.3_Missense_Mutation_p.E651V|GOLGB1_uc011bjm.1_Missense_Mutation_p.E571V|GOLGB1_uc010hrd.1_Missense_Mutation_p.E649V	p.E685V	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	2180	-			685			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.2054A>T	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.62|15.62	2.887865|2.887865	0.52014|0.52014	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.35421|.	1.94;1.95;1.31|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.72630|0.72630	0.3484|0.3484	M|M	0.70595|0.70595	2.14|2.14	0.43527|0.43527	D|D	0.995801|0.995801	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.999|.	D;D;D;D;D|.	0.87578|.	0.996;0.996;0.998;0.996;0.973|.	T|T	0.72953|0.72953	-0.4135|-0.4135	10|5	0.54805|.	T|.	0.06|.	.|.	13.69|13.69	0.62539|0.62539	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	610;649;690;690;685|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	V|C	685;690;649;497|556	ENSP00000341848:E685V;ENSP00000377275:E690V;ENSP00000418231:E649V|.	ENSP00000341848:E685V|.	E|S	-|-	2|1	0|0	GOLGB1|GOLGB1	122899991|122899991	0.998000|0.998000	0.40836|0.40836	0.865000|0.865000	0.33974|0.33974	0.986000|0.986000	0.74619|0.74619	4.472000|4.472000	0.60189|0.60189	2.129000|2.129000	0.65627|0.65627	0.533000|0.533000	0.62120|0.62120	GAG|AGT		0.343	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		11	85	0	0	0	0.010729	0	11	85				
COL6A6	131873	broad.mit.edu	37	3	130284269	130284269	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:130284269C>A	ENST00000358511.6	+	3	1124	c.1093C>A	c.(1093-1095)Ctg>Atg	p.L365M	COL6A6_ENST00000453409.2_Missense_Mutation_p.L365M	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	365	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.L365M(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CATCTTCACCCTGGGCATAGA	0.572																																							uc010htl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(1093-1095)CTG>ATG		collagen type VI alpha 6 precursor							132.0	144.0	140.0					3																	130284269		2037	4196	6233	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130284269C>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1093C>A	3.37:g.130284269C>A	ENSP00000351310:p.Leu365Met						p.L365M	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			3	1124	+			365			Nonhelical region.|VWFA 2.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1093C>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	2.565	-0.300891	0.05495	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.83914	-1.78;-1.78	5.01	-2.4	0.06583	von Willebrand factor, type A (3);	0.506793	0.20231	N	0.096472	T	0.55210	0.1906	N	0.10685	0.025	0.26657	N	0.971998	B	0.16166	0.016	B	0.15870	0.014	T	0.40403	-0.9565	10	0.21014	T	0.42	.	1.0798	0.01640	0.3067:0.2685:0.2856:0.1392	.	365	A6NMZ7	CO6A6_HUMAN	M	365	ENSP00000351310:L365M;ENSP00000399236:L365M	ENSP00000351310:L365M	L	+	1	2	COL6A6	131766959	0.000000	0.05858	0.995000	0.50966	0.827000	0.46813	-1.071000	0.03437	-0.253000	0.09514	-0.367000	0.07326	CTG		0.572	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		20	147	1	0	1.2644e-06	0.010504	1.6098e-06	20	147				
CEP63	80254	broad.mit.edu	37	3	134251670	134251670	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:134251670G>T	ENST00000337090.3	+	5	542	c.369G>T	c.(367-369)agG>agT	p.R123S	CEP63_ENST00000332047.5_Missense_Mutation_p.R123S|CEP63_ENST00000513612.2_Missense_Mutation_p.R123S|CEP63_ENST00000606977.1_Missense_Mutation_p.R123S|CEP63_ENST00000354446.3_Missense_Mutation_p.R123S|CEP63_ENST00000383229.3_Missense_Mutation_p.R123S			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	123					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)		p.R123S(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGCAAATGAGGGAATTCAGAG	0.308																																							uc003eqo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(367-369)AGG>AGT		centrosomal protein 63 isoform a							95.0	103.0	100.0					3																	134251670		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134251670G>T	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.369G>T	3.37:g.134251670G>T	ENSP00000336524:p.Arg123Ser					CEP63_uc003eql.1_Missense_Mutation_p.R123S|CEP63_uc003eqm.2_Missense_Mutation_p.R123S|CEP63_uc003eqn.1_Missense_Mutation_p.R123S	p.R123S	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN			6	818	+			123			Potential.		D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.369G>T	CCDS3086.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.69|14.69	2.609918|2.609918	0.46527|0.46527	.|.	.|.	ENSG00000182923|ENSG00000182923	ENST00000508778|ENST00000332047;ENST00000354446;ENST00000511574;ENST00000337090;ENST00000383229;ENST00000513612	.|T;T;T;T;T;T	.|0.21932	.|1.98;1.98;1.98;1.98;1.98;1.98	5.79|5.79	-6.06|-6.06	0.02165|0.02165	.|.	.|0.283990	.|0.38663	.|N	.|0.001620	T|T	0.30417|0.30417	0.0764|0.0764	M|M	0.61703|0.61703	1.905|1.905	0.21841|0.21841	N|N	0.999517|0.999517	.|D;D;D;P	.|0.67145	.|0.988;0.996;0.962;0.873	.|P;P;B;B	.|0.59424	.|0.794;0.857;0.423;0.23	T|T	0.22730|0.22730	-1.0208|-1.0208	5|10	.|0.72032	.|D	.|0.01	-7.2487|-7.2487	11.9254|11.9254	0.52817|0.52817	0.7615:0.108:0.1304:0.0|0.7615:0.108:0.1304:0.0	.|.	.|123;123;123;123	.|Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3	.|CEP63_HUMAN;.;.;.	V|S	48|123	.|ENSP00000328382:R123S;ENSP00000346432:R123S;ENSP00000424626:R123S;ENSP00000336524:R123S;ENSP00000372716:R123S;ENSP00000426129:R123S	.|ENSP00000328382:R123S	G|R	+|+	2|3	0|2	CEP63|CEP63	135734360|135734360	0.987000|0.987000	0.35691|0.35691	0.730000|0.730000	0.30809|0.30809	0.667000|0.667000	0.39255|0.39255	0.082000|0.082000	0.14847|0.14847	-0.784000|-0.784000	0.04528|0.04528	-0.136000|-0.136000	0.14681|0.14681	GGG|AGG		0.308	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		7	33	1	0	0.000157383	0.00308	0.000178208	7	33				
EPHB1	2047	broad.mit.edu	37	3	134884855	134884855	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:134884855G>T	ENST00000398015.3	+	8	2001	c.1631G>T	c.(1630-1632)gGc>gTc	p.G544V	EPHB1_ENST00000493838.1_Missense_Mutation_p.G105V	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	544					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.G544V(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTGATTGCTGGCTCGGCAGCG	0.552																																							uc003eqt.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(1630-1632)GGC>GTC		ephrin receptor EphB1 precursor							121.0	141.0	134.0					3																	134884855		2112	4243	6355	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134884855G>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1631G>T	3.37:g.134884855G>T	ENSP00000381097:p.Gly544Val					EPHB1_uc003equ.2_Missense_Mutation_p.G105V	p.G544V	NM_004441	NP_004432	P54762	EPHB1_HUMAN			8	1851	+			544			Helical; (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.1631G>T	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.666744	0.47677	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	T;T	0.10099	2.91;2.91	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.18923	0.0454	L	0.47190	1.495	0.80722	D	1	P	0.49961	0.93	P	0.53266	0.722	T	0.01440	-1.1354	10	0.05525	T	0.97	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	544	P54762	EPHB1_HUMAN	V	544;105	ENSP00000381097:G544V;ENSP00000419574:G105V	ENSP00000381097:G544V	G	+	2	0	EPHB1	136367545	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.838000	0.99474	2.884000	0.98904	0.655000	0.94253	GGC		0.552	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		21	147	1	0	4.26978e-12	0.00333	6.47914e-12	21	147				
ATR	545	broad.mit.edu	37	3	142188288	142188288	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:142188288C>T	ENST00000350721.4	-	38	6564	c.6443G>A	c.(6442-6444)cGa>cAa	p.R2148Q	ATR_ENST00000383101.3_Missense_Mutation_p.R2084Q|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2148	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R2148Q(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATGACAAATTCGAGAGATCAA	0.343								Other conserved DNA damage response genes																															uc003eux.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(6442-6444)CGA>CAA	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							131.0	138.0	136.0					3																	142188288		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142188288C>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6443G>A	3.37:g.142188288C>T	ENSP00000343741:p.Arg2148Gln					ATR_uc003euy.1_Missense_Mutation_p.R34Q	p.R2148Q	NM_001184	NP_001175	Q13535	ATR_HUMAN			38	6565	-			2148			FAT.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.6443G>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	34	5.343478	0.95783	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.15017	2.46;2.6	5.15	5.15	0.70609	PIK-related kinase (1);	0.126462	0.52532	D	0.000080	T	0.47619	0.1455	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.63877	0.919	T	0.57516	-0.7798	10	0.87932	D	0	-3.8171	18.5955	0.91228	0.0:1.0:0.0:0.0	.	2148	Q13535	ATR_HUMAN	Q	2148;2084	ENSP00000343741:R2148Q;ENSP00000372581:R2084Q	ENSP00000343741:R2148Q	R	-	2	0	ATR	143670978	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.805000	0.86005	2.378000	0.81104	0.591000	0.81541	CGA		0.343	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		7	114	0	0	0	0.001984	0	7	114				
CPB1	1360	broad.mit.edu	37	3	148545844	148545844	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:148545844G>C	ENST00000491148.1	+	3	461	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	CPB1_ENST00000282957.4_Missense_Mutation_p.E43Q			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	43						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E43Q(1)		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)			CATAATCCGCGAGTTGGCCAG	0.363																																							uc003ewl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(127-129)GAG>CAG		pancreatic carboxypeptidase B1 preproprotein							101.0	100.0	100.0					3																	148545844		2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148545844G>C	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.127G>C	3.37:g.148545844G>C	ENSP00000417222:p.Glu43Gln						p.E43Q	NM_001871	NP_001862	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		2	150	+			43					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.127G>C	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	G	0.678	-0.799450	0.02841	.	.	ENSG00000153002	ENST00000491148;ENST00000494888;ENST00000462345;ENST00000282957;ENST00000468341	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	4.77	-1.72	0.08107	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	1.458340	0.03521	N	0.220946	T	0.11495	0.0280	L	0.28192	0.835	0.09310	N	1	B	0.23058	0.079	B	0.31101	0.124	T	0.27938	-1.0059	10	0.23302	T	0.38	.	1.5522	0.02578	0.2403:0.2137:0.3977:0.1483	.	43	P15086	CBPB1_HUMAN	Q	43	ENSP00000417222:E43Q;ENSP00000419114:E43Q;ENSP00000417117:E43Q;ENSP00000282957:E43Q;ENSP00000419427:E43Q	ENSP00000282957:E43Q	E	+	1	0	CPB1	150028534	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.843000	0.04350	-0.146000	0.11274	-2.226000	0.00293	GAG		0.363	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		6	54	0	0	0	0.001168	0	6	54				
MED12L	116931	broad.mit.edu	37	3	150840592	150840592	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:150840592T>C	ENST00000474524.1	+	3	265	c.227T>C	c.(226-228)aTa>aCa	p.I76T	MED12L_ENST00000273432.4_Missense_Mutation_p.I76T|MED12L_ENST00000309237.4_Missense_Mutation_p.I76T|MED12L_ENST00000422248.2_Missense_Mutation_p.I76T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	76						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.I76T(1)		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)			TTTAGCAGCATATTAGCTGAG	0.358																																							uc003eyp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(226-228)ATA>ACA		mediator of RNA polymerase II transcription,							65.0	58.0	60.0					3																	150840592		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150840592T>C	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.227T>C	3.37:g.150840592T>C	ENSP00000417235:p.Ile76Thr					MED12L_uc011bnz.1_Missense_Mutation_p.I76T|MED12L_uc003eym.1_Missense_Mutation_p.I76T|MED12L_uc003eyn.2_Missense_Mutation_p.I76T|MED12L_uc003eyo.2_Missense_Mutation_p.I76T	p.I76T	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	265	+			76					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.227T>C	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.834935	0.91036	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.66460	0.22;0.19;0.03;-0.21	5.66	5.66	0.87406	.	0.202636	0.40385	N	0.001107	T	0.79816	0.4511	M	0.62723	1.935	0.37793	D	0.927433	D;D;D;D	0.67145	0.989;0.981;0.996;0.984	D;D;D;D	0.77557	0.985;0.966;0.99;0.964	D	0.83870	0.0273	10	0.87932	D	0	-13.8306	15.5623	0.76258	0.0:0.0:0.0:1.0	.	76;76;76;76	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	T	76	ENSP00000403308:I76T;ENSP00000310760:I76T;ENSP00000417235:I76T;ENSP00000273432:I76T	ENSP00000273432:I76T	I	+	2	0	MED12L	152323282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.642000	0.83385	2.173000	0.68751	0.533000	0.62120	ATA		0.358	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		4	18	0	0	0	0.009096	0	4	18				
MED12L	116931	broad.mit.edu	37	3	151105804	151105804	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:151105804G>T	ENST00000474524.1	+	35	5228	c.5190G>T	c.(5188-5190)ctG>ctT	p.L1730L	MED12L_ENST00000273432.4_Silent_p.L1590L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1730						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.L1730L(1)		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)			CACTGCCCCTGCCTCCTGAGG	0.552																																							uc003eyp.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(5188-5190)CTG>CTT		mediator of RNA polymerase II transcription,							66.0	53.0	57.0					3																	151105804		2203	4300	6503	SO:0001819	synonymous_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151105804G>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5190G>T	3.37:g.151105804G>T						MED12L_uc011bnz.1_Silent_p.L1590L|MED12L_uc003eyy.1_Silent_p.L893L	p.L1730L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		35	5228	+			1730					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	ENST00000474524.1	37	c.5190G>T	CCDS33876.1																																																																																				0.552	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		10	19	1	0	9.70103e-10	0.008291	1.3817e-09	10	19				
ARHGEF26	26084	broad.mit.edu	37	3	153840368	153840368	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:153840368A>T	ENST00000356448.4	+	2	871	c.587A>T	c.(586-588)aAg>aTg	p.K196M	ARHGEF26_ENST00000465093.1_Missense_Mutation_p.K196M|ARHGEF26-AS1_ENST00000467912.1_RNA|ARHGEF26_ENST00000465817.1_Missense_Mutation_p.K196M|ARHGEF26-AS1_ENST00000479270.1_RNA|ARHGEF26-AS1_ENST00000491862.1_RNA|ARHGEF26-AS1_ENST00000480639.1_RNA	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	196					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K196M(3)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						CGGAAGGCAAAGGACCCCGAA	0.612																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)		uc011bog.1		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(1)	1						c.(586-588)AAG>ATG		Src homology 3 domain-containing guanine							22.0	24.0	24.0					3																	153840368		1845	4084	5929	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153840368A>T	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.587A>T	3.37:g.153840368A>T	ENSP00000348828:p.Lys196Met					uc003ezu.1_5'Flank|SGEF_uc011boh.1_Missense_Mutation_p.K196M	p.K196M	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		2	798	+			196					B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.587A>T	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.358981	0.24598	.	.	ENSG00000114790	ENST00000356448;ENST00000465093;ENST00000465817	T;T;T	0.58506	0.33;0.33;2.11	4.83	0.902	0.19290	.	1.657070	0.02809	N	0.124076	T	0.41351	0.1155	N	0.19112	0.55	0.09310	N	1	B;B	0.25169	0.119;0.119	B;B	0.27076	0.047;0.076	T	0.21827	-1.0234	10	0.42905	T	0.14	-0.0171	1.4549	0.02383	0.5477:0.1382:0.1643:0.1498	.	196;196	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	M	196	ENSP00000348828:K196M;ENSP00000423418:K196M;ENSP00000423295:K196M	ENSP00000348828:K196M	K	+	2	0	ARHGEF26	155323058	0.404000	0.25328	0.000000	0.03702	0.003000	0.03518	1.152000	0.31663	-0.092000	0.12417	-0.527000	0.04329	AAG		0.612	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		10	44	0	0	0	0.010729	0	10	44				
GMPS	8833	broad.mit.edu	37	3	155628515	155628515	+	Silent	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:155628515A>C	ENST00000496455.2	+	6	896	c.561A>C	c.(559-561)gcA>gcC	p.A187A	GMPS_ENST00000295920.7_Silent_p.A88A|GMPS_ENST00000476145.1_3'UTR	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	187	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)	p.A187A(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	TATATGGAGCACAGTTCCACC	0.353			T	MLL	AML																																Ovarian(153;896 1876 4149 15499 28134)	Ovarian(153;896 1876 4149 15499 28134)	uc003faq.2		NA		Dom	yes		3	3q24	8833	T	guanine monphosphate synthetase			L	MLL		AML		1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(559-561)GCA>GCC		guanine monophosphate synthetase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						75.0	73.0	74.0					3																	155628515		1832	4083	5915	SO:0001819	synonymous_variant	8833				glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	g.chr3:155628515A>C	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.561A>C	3.37:g.155628515A>C						GMPS_uc011bom.1_Silent_p.A88A	p.A187A	NM_003875	NP_003866	P49915	GUAA_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		6	896	+			187			Glutamine amidotransferase type-1.		A8K639|B4DXV7|F8W720	Silent	SNP	ENST00000496455.2	37	c.561A>C	CCDS46941.1																																																																																				0.353	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2			10	59	0	0	0	0.008291	0	10	59				
PPM1L	151742	broad.mit.edu	37	3	160783209	160783209	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:160783209C>A	ENST00000498165.1	+	3	694	c.593C>A	c.(592-594)gCt>gAt	p.A198D	PPM1L_ENST00000295839.9_Missense_Mutation_p.A71D|PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Missense_Mutation_p.A19D	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	198	PP2C-like.				MAPK cascade (GO:0000165)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.A19D(1)|p.A198D(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TGTTTGATTGCTCTGCTATCA	0.493																																					Pancreas(86;250 1994 13715 43211)	Pancreas(86;250 1994 13715 43211)	uc003fdr.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(592-594)GCT>GAT		protein phosphatase 1 (formerly 2C)-like							100.0	104.0	102.0					3																	160783209		2203	4300	6503	SO:0001583	missense	151742				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr3:160783209C>A	AK055115	CCDS33886.1	3q26.1	2012-04-17	2010-03-05		ENSG00000163590	ENSG00000163590	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	16381	protein-coding gene	gene with protein product	"""PP2Cepsilon"", ""Protein phosphatase 2C epsilon isoform"""	611931	"""protein phosphatase 1 (formerly 2C)-like"""			12556533	Standard	XM_006713507		Approved	PP2CE	uc003fdr.3	Q5SGD2	OTTHUMG00000159048	ENST00000498165.1:c.593C>A	3.37:g.160783209C>A	ENSP00000417659:p.Ala198Asp					PPM1L_uc003fds.2_Missense_Mutation_p.A19D|PPM1L_uc003fdt.2_Missense_Mutation_p.A71D|PPM1L_uc010hwf.2_RNA	p.A198D	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		3	694	+			198			Cytoplasmic (Potential).|PP2C-like.		Q2M3J2|Q96NM7	Missense_Mutation	SNP	ENST00000498165.1	37	c.593C>A	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590530	0.86851	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	T;T;T	0.23348	1.91;1.91;1.91	5.12	5.12	0.69794	Protein phosphatase 2C-like (5);	0.092704	0.85682	D	0.000000	T	0.68247	0.2980	H	0.98027	4.13	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.85130	0.963;0.997	T	0.81217	-0.1033	10	0.87932	D	0	.	17.7238	0.88359	0.0:1.0:0.0:0.0	.	71;198	Q5SGD2-3;Q5SGD2	.;PPM1L_HUMAN	D	198;19;71	ENSP00000417659:A198D;ENSP00000420746:A19D;ENSP00000295839:A71D	ENSP00000295839:A71D	A	+	2	0	PPM1L	162265903	1.000000	0.71417	1.000000	0.80357	0.689000	0.40095	7.298000	0.78815	2.681000	0.91329	0.561000	0.74099	GCT		0.493	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	NM_139245		21	137	1	0	2.89027e-11	0.002299	4.29223e-11	21	137				
SI	6476	broad.mit.edu	37	3	164710115	164710115	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:164710115G>T	ENST00000264382.3	-	42	4974	c.4912C>A	c.(4912-4914)Cca>Aca	p.P1638T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1638	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.P1638T(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCCAGTACTGGGGTAACCATA	0.328										HNSCC(35;0.089)																													uc003fei.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(4912-4914)CCA>ACA		sucrase-isomaltase	Acarbose(DB00284)						65.0	67.0	67.0					3																	164710115		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164710115G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4912C>A	3.37:g.164710115G>T	ENSP00000264382:p.Pro1638Thr	HNSCC(35;0.089)					p.P1638T	NM_001041	NP_001032	P14410	SUIS_HUMAN			42	4974	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1638			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.4912C>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.167673	0.57476	.	.	ENSG00000090402	ENST00000264382	D	0.95171	-3.63	4.82	4.82	0.62117	.	0.054736	0.85682	D	0.000000	D	0.97920	0.9316	M	0.92880	3.355	0.48571	D	0.999678	D	0.89917	1.0	D	0.85130	0.997	D	0.98802	1.0740	10	0.87932	D	0	.	18.0443	0.89327	0.0:0.0:1.0:0.0	.	1638	P14410	SUIS_HUMAN	T	1638	ENSP00000264382:P1638T	ENSP00000264382:P1638T	P	-	1	0	SI	166192809	1.000000	0.71417	0.937000	0.37676	0.745000	0.42441	4.100000	0.57762	2.654000	0.90174	0.655000	0.94253	CCA		0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		16	54	1	0	3.35478e-16	0.003163	5.52427e-16	16	54				
SI	6476	broad.mit.edu	37	3	164786924	164786924	+	Missense_Mutation	SNP	C	C	A	rs138564183		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:164786924C>A	ENST00000264382.3	-	4	377	c.315G>T	c.(313-315)tgG>tgT	p.W105C		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	105	P-type 1. {ECO:0000255|PROSITE- ProRule:PRU00779}.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.W105C(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CGAAGAAGCACCAAGGAATAA	0.343										HNSCC(35;0.089)			C|||	1	0.000199681	0.0	0.0	5008	,	,		12683	0.0		0.001	False		,,,				2504	0.0						uc003fei.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(313-315)TGG>TGT		sucrase-isomaltase	Acarbose(DB00284)	C	CYS/TRP	0,4406		0,0,2203	69.0	68.0	69.0		315	5.7	1.0	3	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	SI	NM_001041.3	215	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	105/1828	164786924	1,13005	2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164786924C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.315G>T	3.37:g.164786924C>A	ENSP00000264382:p.Trp105Cys	HNSCC(35;0.089)					p.W105C	NM_001041	NP_001032	P14410	SUIS_HUMAN			4	377	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	105			Lumenal.|P-type 1.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.315G>T	CCDS3196.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	19.47	3.834482	0.71373	0.0	1.16E-4	ENSG00000090402	ENST00000264382	T	0.61980	0.06	5.68	5.68	0.88126	Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (4);	0.111999	0.64402	D	0.000003	D	0.84719	0.5534	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.88020	0.2768	10	0.66056	D	0.02	.	17.9742	0.89122	0.0:1.0:0.0:0.0	.	105	P14410	SUIS_HUMAN	C	105	ENSP00000264382:W105C	ENSP00000264382:W105C	W	-	3	0	SI	166269618	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	6.377000	0.73145	2.677000	0.91161	0.563000	0.77884	TGG		0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		15	34	1	0	1.3612e-06	0.003163	1.72463e-06	15	34				
LRRIQ4	344657	broad.mit.edu	37	3	169539777	169539777	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:169539777T>A	ENST00000340806.6	+	1	68	c.68T>A	c.(67-69)gTc>gAc	p.V23D		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	23								p.V23D(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CCACAGCACGTCAATGATAGA	0.343																																							uc003fgb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(67-69)GTC>GAC		leucine-rich repeats and IQ motif containing 4							81.0	77.0	78.0					3																	169539777		1880	4121	6001	SO:0001583	missense	344657							g.chr3:169539777T>A		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.68T>A	3.37:g.169539777T>A	ENSP00000342188:p.Val23Asp						p.V23D	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			1	68	+			23			LRR 1.			Missense_Mutation	SNP	ENST00000340806.6	37	c.68T>A	CCDS46951.1	.	.	.	.	.	.	.	.	.	.	T	12.99	2.103043	0.37145	.	.	ENSG00000188306	ENST00000340806	T	0.34072	1.38	5.69	-0.994	0.10225	.	1.298140	0.05076	N	0.482529	T	0.28499	0.0705	N	0.24115	0.695	0.09310	N	1	P	0.49961	0.93	B	0.42319	0.383	T	0.44636	-0.9315	10	0.72032	D	0.01	.	11.4829	0.50337	0.0:0.4815:0.0:0.5185	.	23	A6NIV6	LRIQ4_HUMAN	D	23	ENSP00000342188:V23D	ENSP00000342188:V23D	V	+	2	0	LRRIQ4	171022471	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.006000	0.13152	-0.149000	0.11215	-0.379000	0.06801	GTC		0.343	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		6	75	0	0	0	0.001168	0	6	75				
PRKCI	5584	broad.mit.edu	37	3	170002369	170002369	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:170002369C>A	ENST00000295797.4	+	12	1493	c.1188C>A	c.(1186-1188)gaC>gaA	p.D396E		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	396	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.D387E(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	AACTCACTGACTACGGCATGT	0.343																																							uc003fgs.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(1186-1188)GAC>GAA		protein kinase C, iota							55.0	54.0	55.0					3																	170002369		2203	4297	6500	SO:0001583	missense	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:170002369C>A		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1188C>A	3.37:g.170002369C>A	ENSP00000295797:p.Asp396Glu						p.D396E	NM_002740	NP_002731	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		12	1426	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		396			Protein kinase.		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	c.1188C>A	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286023	0.80803	.	.	ENSG00000163558	ENST00000295797	D	0.92911	-3.13	5.39	4.52	0.55395	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97263	0.9105	H	0.97732	4.065	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97595	1.0119	9	.	.	.	.	11.2411	0.48970	0.0:0.84:0.0:0.16	.	396	P41743	KPCI_HUMAN	E	396	ENSP00000295797:D396E	.	D	+	3	2	PRKCI	171485063	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.749000	0.38319	1.405000	0.46838	0.585000	0.79938	GAC		0.343	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		14	58	1	0	4.36969e-10	0.001855	6.28369e-10	14	58				
PCYT1A	5130	broad.mit.edu	37	3	195968943	195968943	+	Missense_Mutation	SNP	T	T	C	rs187437949		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:195968943T>C	ENST00000292823.2	-	8	756	c.584A>G	c.(583-585)cAg>cGg	p.Q195R	PCYT1A_ENST00000419333.1_Missense_Mutation_p.Q195R|PCYT1A_ENST00000431016.1_Missense_Mutation_p.Q195R	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	195					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)	p.Q195R(1)		cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	TTCTGTCCTCTGTGTTGGAGC	0.473													T|||	1	0.000199681	0.0	0.0	5008	,	,		23040	0.001		0.0	False		,,,				2504	0.0						uc003fwg.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(583-585)CAG>CGG		choline phosphate cytidylyltransferase 1 alpha	Choline(DB00122)						128.0	113.0	118.0					3																	195968943		2203	4300	6503	SO:0001583	missense	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195968943T>C	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.584A>G	3.37:g.195968943T>C	ENSP00000292823:p.Gln195Arg					PCYT1A_uc003fwh.2_Missense_Mutation_p.Q195R	p.Q195R	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	8	757	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		195			Catalytic (Potential).		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	ENST00000292823.2	37	c.584A>G	CCDS3315.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	19.47	3.833722	0.71258	.	.	ENSG00000161217	ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591;ENST00000433733;ENST00000430755	D;D;D;D;D;D	0.96396	-4.0;-4.0;-4.0;-4.0;-4.0;-4.0	5.65	5.65	0.86999	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.95825	0.8641	L	0.53249	1.67	0.58432	D	0.999993	P	0.44090	0.826	P	0.47346	0.544	D	0.96215	0.9156	10	0.87932	D	0	-14.8679	15.1136	0.72380	0.0:0.0:0.0:1.0	.	195	P49585	PCY1A_HUMAN	R	195;195;156;195;195;68;129	ENSP00000390968:Q195R;ENSP00000292823:Q195R;ENSP00000394617:Q195R;ENSP00000400430:Q195R;ENSP00000390458:Q68R;ENSP00000402283:Q129R	ENSP00000292823:Q195R	Q	-	2	0	PCYT1A	197453340	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.694000	0.84235	2.169000	0.68431	0.529000	0.55759	CAG		0.473	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017		30	72	0	0	0	0.008361	0	30	72				
WDR53	348793	broad.mit.edu	37	3	196288274	196288274	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr3:196288274C>A	ENST00000332629.5	-	3	640	c.73G>T	c.(73-75)Gct>Tct	p.A25S	WDR53_ENST00000433160.1_Intron|WDR53_ENST00000429115.1_Intron	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	25								p.A25S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GCTCCAGAAGCCAGCAGCCCT	0.552																																							uc003fwt.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(73-75)GCT>TCT		WD repeat domain 53							57.0	57.0	57.0					3																	196288274		2203	4300	6503	SO:0001583	missense	348793							g.chr3:196288274C>A	BC054030	CCDS3318.1	3q29	2013-01-09			ENSG00000185798	ENSG00000185798		"""WD repeat domain containing"""	28786	protein-coding gene	gene with protein product		615110				12477932	Standard	NM_182627		Approved	MGC64882, MGC12928	uc003fwt.3	Q7Z5U6	OTTHUMG00000155572	ENST00000332629.5:c.73G>T	3.37:g.196288274C>A	ENSP00000328079:p.Ala25Ser						p.A25S	NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	3	544	-	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		25			WD 1.		A0MNP1	Missense_Mutation	SNP	ENST00000332629.5	37	c.73G>T	CCDS3318.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448909	0.63178	.	.	ENSG00000185798	ENST00000332629;ENST00000456677;ENST00000425888	T;T;T	0.58060	1.09;0.36;0.36	6.02	6.02	0.97574	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.053577	0.64402	D	0.000001	T	0.69522	0.3120	M	0.84433	2.695	0.80722	D	1	P	0.47191	0.891	P	0.48901	0.594	T	0.73914	-0.3832	10	0.87932	D	0	-2.5348	20.6011	0.99457	0.0:1.0:0.0:0.0	.	25	Q7Z5U6	WDR53_HUMAN	S	25	ENSP00000328079:A25S;ENSP00000408087:A25S;ENSP00000396248:A25S	ENSP00000328079:A25S	A	-	1	0	WDR53	197772671	1.000000	0.71417	0.999000	0.59377	0.606000	0.37113	7.057000	0.76669	2.878000	0.98634	0.650000	0.86243	GCT		0.552	WDR53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340689.1	NM_182627		16	17	1	0	0.000566183	0.00499	0.00062616	16	17				
KIAA0232	9778	broad.mit.edu	37	4	6878407	6878407	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:6878407G>A	ENST00000307659.5	+	9	4386	c.3931G>A	c.(3931-3933)Gga>Aga	p.G1311R	KIAA0232_ENST00000425103.1_Missense_Mutation_p.G1311R	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1311							ATP binding (GO:0005524)	p.G1311R(1)		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						AAATGCCAAGGGAGAGAGTGG	0.403																																							uc003gjr.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3931-3933)GGA>AGA		hypothetical protein LOC9778							145.0	134.0	137.0					4																	6878407		1859	4099	5958	SO:0001583	missense	9778						ATP binding	g.chr4:6878407G>A	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.3931G>A	4.37:g.6878407G>A	ENSP00000303928:p.Gly1311Arg					KIAA0232_uc003gjq.3_Missense_Mutation_p.G1311R	p.G1311R	NM_014743	NP_055558	Q92628	K0232_HUMAN			9	4394	+			1311					A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	c.3931G>A	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611205	0.46631	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	4.98	4.98	0.66077	.	0.000000	0.53938	D	0.000046	T	0.42765	0.1217	N	0.19112	0.55	0.44985	D	0.998003	B	0.23540	0.087	B	0.27887	0.084	T	0.36261	-0.9755	9	0.45353	T	0.12	-26.7924	11.0865	0.48091	0.085:0.0:0.915:0.0	.	1311	Q92628	K0232_HUMAN	R	1311	.	ENSP00000303928:G1311R	G	+	1	0	KIAA0232	6929308	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.785000	0.55424	2.591000	0.87537	0.491000	0.48974	GGA		0.403	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		6	54	0	0	0	0.001168	0	6	54				
GRPEL1	80273	broad.mit.edu	37	4	7062639	7062639	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:7062639G>T	ENST00000264954.4	-	4	768	c.604C>A	c.(604-606)Cat>Aat	p.H202N	GRPEL1_ENST00000514056.1_5'Flank	NM_025196.2	NP_079472.1	Q9HAV7	GRPE1_HUMAN	GrpE-like 1, mitochondrial (E. coli)	202					cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	adenyl-nucleotide exchange factor activity (GO:0000774)|unfolded protein binding (GO:0051082)	p.H202N(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GTGCGCCCATGCAGCTTGTAC	0.542																																							uc003gjy.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(604-606)CAT>AAT		GrpE-like 1, mitochondrial precursor							137.0	148.0	145.0					4																	7062639		2203	4300	6503	SO:0001583	missense	80273				protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding	g.chr4:7062639G>T	AF070525	CCDS3396.1	4p16	2008-02-05			ENSG00000109519	ENSG00000109519			19696	protein-coding gene	gene with protein product		606173				11311562	Standard	NM_025196		Approved	HMGE, FLJ25609	uc003gjy.1	Q9HAV7	OTTHUMG00000090495	ENST00000264954.4:c.604C>A	4.37:g.7062639G>T	ENSP00000264954:p.His202Asn					GRPEL1_uc003gjz.1_3'UTR	p.H202N	NM_025196	NP_079472	Q9HAV7	GRPE1_HUMAN			4	645	-			202					B2R783|Q549M6	Missense_Mutation	SNP	ENST00000264954.4	37	c.604C>A	CCDS3396.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202497	0.79127	.	.	ENSG00000109519	ENST00000264954;ENST00000429301	.	.	.	5.65	5.65	0.86999	GrpE nucleotide exchange factor, head (2);	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	N	0.13371	0.34	0.80722	D	1	P	0.37370	0.592	P	0.44422	0.449	T	0.34825	-0.9813	9	0.06891	T	0.86	.	19.7319	0.96186	0.0:0.0:1.0:0.0	.	202	Q9HAV7	GRPE1_HUMAN	N	202;181	.	ENSP00000264954:H202N	H	-	1	0	GRPEL1	7113540	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	9.197000	0.94985	2.659000	0.90383	0.561000	0.74099	CAT		0.542	GRPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206983.2	NM_025196		46	139	1	0	4.64027e-19	0.00361	7.87713e-19	46	139				
FBXL5	26234	broad.mit.edu	37	4	15646167	15646167	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:15646167A>T	ENST00000341285.3	-	2	373	c.249T>A	c.(247-249)aaT>aaA	p.N83K	FBXL5_ENST00000382358.4_5'UTR|FBXL5_ENST00000412094.2_Missense_Mutation_p.N66K	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	83	Hemerythrin-like.				iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)	p.N83K(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CGGAGAGTTTATTGTCAGAAT	0.363																																							uc003goc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(247-249)AAT>AAA		F-box and leucine-rich repeat protein 5 isoform							111.0	106.0	108.0					4																	15646167		2203	4300	6503	SO:0001583	missense	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15646167A>T	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.249T>A	4.37:g.15646167A>T	ENSP00000344866:p.Asn83Lys					FBXL5_uc010idw.1_Missense_Mutation_p.N28K|FBXL5_uc003gob.1_5'UTR|FBXL5_uc010idx.1_Missense_Mutation_p.N83K|FBXL5_uc003god.1_Missense_Mutation_p.N66K|FBXL5_uc010idy.1_Missense_Mutation_p.N83K	p.N83K	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN			2	352	-			83			Hemerythrin-like.		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Missense_Mutation	SNP	ENST00000341285.3	37	c.249T>A	CCDS3415.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.5|21.5	4.155193|4.155193	0.78114|0.78114	.|.	.|.	ENSG00000118564|ENSG00000118564	ENST00000341285;ENST00000412094;ENST00000512066;ENST00000503196;ENST00000509314;ENST00000510802;ENST00000507899;ENST00000515679|ENST00000513163	T;T|.	0.38722|.	1.13;1.12|.	5.17|5.17	1.51|1.51	0.23008|0.23008	.|.	0.042931|.	0.85682|.	D|.	0.000000|.	T|.	0.57373|.	0.2049|.	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.83275|.	0.994;0.996|.	T|.	0.50329|.	-0.8841|.	10|.	0.87932|.	D|.	0|.	-22.284|-22.284	6.7553|6.7553	0.23510|0.23510	0.3816:0.0:0.6184:0.0|0.3816:0.0:0.6184:0.0	.|.	66;83|.	Q9UKA1-2;Q9UKA1|.	.;FBXL5_HUMAN|.	K|K	83;66;45;28;28;28;64;28|36	ENSP00000344866:N83K;ENSP00000408679:N66K|.	ENSP00000344866:N83K|.	N|X	-|-	3|1	2|0	FBXL5|FBXL5	15255265|15255265	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.208000|3.208000	0.51114|0.51114	0.307000|0.307000	0.22880|0.22880	0.528000|0.528000	0.53228|0.53228	AAT|TAA		0.363	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2			3	64	0	0	0	0.000602	0	3	64				
CD38	952	broad.mit.edu	37	4	15818249	15818249	+	Missense_Mutation	SNP	G	G	A	rs375909727		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:15818249G>A	ENST00000226279.3	+	2	486	c.349G>A	c.(349-351)Gta>Ata	p.V117I		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	117					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)	p.V117I(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						AACTCAGACCGTACCTTGCAA	0.378																																							uc011bxc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(349-351)GTA>ATA		CD38 antigen		G	ILE/VAL	0,4406		0,0,2203	106.0	99.0	102.0		349	-6.1	0.0	4		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD38	NM_001775.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	117/301	15818249	1,13005	2203	4300	6503	SO:0001583	missense	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15818249G>A	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.349G>A	4.37:g.15818249G>A	ENSP00000226279:p.Val117Ile					CD38_uc003goj.1_Missense_Mutation_p.V117I|CD38_uc003gol.1_Missense_Mutation_p.V117I	p.V117I	NM_001775	NP_001766	P28907	CD38_HUMAN			2	456	+			117			Extracellular (Potential).		O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	c.349G>A	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	G	1.161	-0.643796	0.03531	0.0	1.16E-4	ENSG00000004468	ENST00000226279;ENST00000540195;ENST00000510674	T;T	0.13307	2.6;2.6	5.57	-6.1	0.02138	NAD(P)-binding domain (1);	0.874278	0.10376	N	0.682136	T	0.03305	0.0096	N	0.12611	0.24	0.09310	N	1	P;P	0.36222	0.544;0.544	B;B	0.21546	0.035;0.035	T	0.41431	-0.9509	10	0.05620	T	0.96	-3.1627	5.0548	0.14527	0.4146:0.0:0.2773:0.3081	.	117;117	P28907;B2R880	CD38_HUMAN;.	I	117;117;11	ENSP00000226279:V117I;ENSP00000423047:V11I	ENSP00000226279:V117I	V	+	1	0	CD38	15427347	0.000000	0.05858	0.003000	0.11579	0.101000	0.19017	-1.565000	0.02150	-1.148000	0.02847	-0.253000	0.11424	GTA		0.378	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		5	100	0	0	0	0.000602	0	5	100				
LGI2	55203	broad.mit.edu	37	4	25005757	25005757	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:25005757T>C	ENST00000382114.4	-	8	1139	c.954A>G	c.(952-954)atA>atG	p.I318M		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	318						extracellular region (GO:0005576)		p.I318M(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GAGAGACCTCTATGTCTTGGA	0.483																																							uc003grf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(952-954)ATA>ATG		leucine-rich repeat LGI family, member 2							171.0	174.0	173.0					4																	25005757		2203	4300	6503	SO:0001583	missense	55203					extracellular region		g.chr4:25005757T>C	AJ487516	CCDS3431.1	4p15.31	2008-07-28			ENSG00000153012	ENSG00000153012			18710	protein-coding gene	gene with protein product		608301				12023020, 16014869	Standard	NM_018176		Approved	KIAA1916, FLJ10675	uc003grf.2	Q8N0V4	OTTHUMG00000097749	ENST00000382114.4:c.954A>G	4.37:g.25005757T>C	ENSP00000371548:p.Ile318Met						p.I318M	NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN			8	1053	-		Breast(46;0.173)	318			EAR 3.		Q3MIN2|Q8NDW6|Q96PX2|Q9NVK4	Missense_Mutation	SNP	ENST00000382114.4	37	c.954A>G	CCDS3431.1	.	.	.	.	.	.	.	.	.	.	T	18.42	3.619356	0.66787	.	.	ENSG00000153012	ENST00000382114	D	0.85773	-2.03	5.55	-9.42	0.00610	.	0.000000	0.85682	D	0.000000	D	0.85217	0.5646	M	0.64404	1.975	0.53005	D	0.999961	D	0.59767	0.986	D	0.68943	0.961	D	0.85418	0.1141	10	0.62326	D	0.03	-17.0218	8.3416	0.32247	0.3548:0.0:0.3981:0.2471	.	318	Q8N0V4	LGI2_HUMAN	M	318	ENSP00000371548:I318M	ENSP00000371548:I318M	I	-	3	3	LGI2	24614855	0.004000	0.15560	0.961000	0.40146	0.962000	0.63368	-1.077000	0.03416	-0.892000	0.03935	-0.429000	0.05907	ATA		0.483	LGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214978.1			13	124	0	0	0	0.001368	0	13	124				
PGM2	55276	broad.mit.edu	37	4	37848688	37848688	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:37848688A>T	ENST00000381967.4	+	9	1244	c.1144A>T	c.(1144-1146)Aaa>Taa	p.K382*	PGM2_ENST00000544359.1_Nonsense_Mutation_p.K243*|PGM2_ENST00000537241.1_Nonsense_Mutation_p.K222*	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	382					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)	p.K382*(1)		breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CGTCTCCTCCAAAATCTTGCG	0.478																																							uc011byb.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1144-1146)AAA>TAA		phosphoglucomutase 2							122.0	125.0	124.0					4																	37848688		2203	4300	6503	SO:0001587	stop_gained	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37848688A>T	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1144A>T	4.37:g.37848688A>T	ENSP00000371393:p.Lys382*					PGM2_uc011bya.1_Nonsense_Mutation_p.K243*|PGM2_uc011byc.1_Nonsense_Mutation_p.K222*	p.K382*	NM_018290	NP_060760	Q96G03	PGM2_HUMAN			9	1217	+			382					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Nonsense_Mutation	SNP	ENST00000381967.4	37	c.1144A>T	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	A	41	8.859905	0.98980	.	.	ENSG00000169299	ENST00000381967;ENST00000544359;ENST00000537241	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.115	15.8867	0.79255	1.0:0.0:0.0:0.0	.	.	.	.	X	382;243;222	.	ENSP00000371393:K382X	K	+	1	0	PGM2	37525083	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.253000	0.78320	2.151000	0.67156	0.460000	0.39030	AAA		0.478	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		12	165	0	0	0	0.010729	0	12	165				
FRYL	285527	broad.mit.edu	37	4	48592824	48592824	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:48592824G>T	ENST00000503238.1	-	14	1358	c.1359C>A	c.(1357-1359)gtC>gtA	p.V453V	FRYL_ENST00000537810.1_Silent_p.V453V|FRYL_ENST00000506685.1_Silent_p.V159V|FRYL_ENST00000358350.4_Silent_p.V453V|FRYL_ENST00000507711.1_Silent_p.V453V|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.V453V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTACAAGGAAGACTCTGAGAC	0.368																																							uc003gyh.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1357-1359)GTC>GTA		furry-like							120.0	111.0	114.0					4																	48592824		1871	4103	5974	SO:0001819	synonymous_variant	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48592824G>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.1359C>A	4.37:g.48592824G>T						FRYL_uc003gyk.2_Silent_p.V453V	p.V453V	NM_015030	NP_055845	O94915	FRYL_HUMAN			17	1964	-			453					O95640|Q8WTZ5|Q9NT40	Silent	SNP	ENST00000503238.1	37	c.1359C>A	CCDS43227.1																																																																																				0.368	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			5	97	1	0	2.0095e-06	0.001984	2.53066e-06	5	97				
CWH43	80157	broad.mit.edu	37	4	49032935	49032935	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:49032935T>C	ENST00000226432.4	+	11	1649	c.1466T>C	c.(1465-1467)tTc>tCc	p.F489S	CWH43_ENST00000513409.1_Missense_Mutation_p.F462S	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	489					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.F489S(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AAGTTGGGTTTCTATACAGAC	0.443																																							uc003gyv.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1465-1467)TTC>TCC		cell wall biogenesis 43 C-terminal homolog							163.0	162.0	162.0					4																	49032935		2203	4300	6503	SO:0001583	missense	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49032935T>C		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1466T>C	4.37:g.49032935T>C	ENSP00000226432:p.Phe489Ser					CWH43_uc011bzl.1_Missense_Mutation_p.F462S	p.F489S	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			11	1648	+			489					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.1466T>C	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.118969	0.77323	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.30448	1.53;1.53	5.44	5.44	0.79542	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.53938	D	0.000043	T	0.31670	0.0804	L	0.38175	1.15	0.46203	D	0.99892	P	0.45827	0.867	P	0.47346	0.544	T	0.02179	-1.1200	9	.	.	.	.	13.8837	0.63696	0.0:0.0:0.0:1.0	.	489	Q9H720	PG2IP_HUMAN	S	489;462	ENSP00000226432:F489S;ENSP00000422802:F462S	.	F	+	2	0	CWH43	48727692	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	4.833000	0.62766	2.286000	0.76751	0.454000	0.30748	TTC		0.443	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087		32	187	0	0	0	0.010818	0	32	187				
LRRC66	339977	broad.mit.edu	37	4	52861976	52861976	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:52861976C>G	ENST00000343457.3	-	4	1218	c.1212G>C	c.(1210-1212)ctG>ctC	p.L404L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	404						integral component of membrane (GO:0016021)		p.L404L(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTTTTTGCCACAGTCTGTCAA	0.562																																							uc003gzi.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1210-1212)CTG>CTC		leucine rich repeat containing 66							76.0	78.0	78.0					4																	52861976		1985	4156	6141	SO:0001819	synonymous_variant	339977					integral to membrane		g.chr4:52861976C>G	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1212G>C	4.37:g.52861976C>G							p.L404L	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	1225	-			404						Silent	SNP	ENST00000343457.3	37	c.1212G>C	CCDS43229.1																																																																																				0.562	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		20	61	0	0	0	0.002299	0	20	61				
UGT2B10	7365	broad.mit.edu	37	4	69692215	69692215	+	Splice_Site	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:69692215G>T	ENST00000265403.7	+	4	1114	c.1087G>T	c.(1087-1089)Ggt>Tgt	p.G363C	UGT2B10_ENST00000458688.2_Splice_Site_p.G279C	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	363					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.G363C(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGACCTTCTAGGTAACACTCT	0.368																																					Melanoma(133;755 1763 25578 26334 46021)	Melanoma(133;755 1763 25578 26334 46021)	uc003hee.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(1087-1089)GGT>TGT		UDP glucuronosyltransferase 2B10 isoform 1							115.0	109.0	111.0					4																	69692215		2203	4300	6503	SO:0001630	splice_region_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69692215G>T	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1087+1G>T	4.37:g.69692215G>T						UGT2B10_uc011cam.1_Missense_Mutation_p.G279C	p.G363C	NM_001075	NP_001066	P36537	UDB10_HUMAN			4	1112	+			363					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.1087G>T		.	.	.	.	.	.	.	.	.	.	g	11.93	1.784310	0.31593	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.66995	-0.24;-0.24	2.25	2.25	0.28309	.	0.000000	0.64402	U	0.000001	T	0.81574	0.4851	M	0.89478	3.035	0.38544	D	0.949291	D;D	0.89917	0.999;1.0	D;D	0.79784	0.985;0.993	D	0.84544	0.0640	10	0.87932	D	0	.	9.874	0.41191	0.0:0.0:1.0:0.0	.	279;363	B4DPP1;P36537	.;UDB10_HUMAN	C	363;279	ENSP00000265403:G363C;ENSP00000413420:G279C	ENSP00000265403:G363C	G	+	1	0	UGT2B10	69726804	1.000000	0.71417	0.922000	0.36590	0.017000	0.09413	7.246000	0.78247	1.089000	0.41292	0.184000	0.17185	GGT		0.368	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075	Missense_Mutation	31	74	1	0	2.80507e-11	0.012213	4.1776e-11	31	74				
MUC7	4589	broad.mit.edu	37	4	71347134	71347134	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:71347134C>A	ENST00000304887.5	+	3	863	c.673C>A	c.(673-675)Cca>Aca	p.P225T	MUC7_ENST00000413702.1_Missense_Mutation_p.P225T|MUC7_ENST00000456088.1_Missense_Mutation_p.P225T	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	225	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P225T(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TACACCAGCTCCACCATCTTC	0.587																																							uc011cat.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(673-675)CCA>ACA		mucin 7, secreted precursor							431.0	365.0	388.0					4																	71347134		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347134C>A	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.673C>A	4.37:g.71347134C>A	ENSP00000302021:p.Pro225Thr					MUC7_uc011cau.1_Missense_Mutation_p.P225T|MUC7_uc003hfj.2_Missense_Mutation_p.P225T|uc011cav.1_Intron	p.P225T	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	961	+			225			3.|Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.673C>A	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	1.380	-0.583756	0.03827	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.47528	0.84;0.84;0.84	2.03	0.0845	0.14437	.	.	.	.	.	T	0.41282	0.1152	N	0.19112	0.55	0.09310	N	1	D	0.65815	0.995	D	0.63793	0.918	T	0.20140	-1.0284	8	.	.	.	-1.881	0.833	0.01134	0.2388:0.3654:0.2356:0.1601	.	225	Q8TAX7	MUC7_HUMAN	T	225	ENSP00000407422:P225T;ENSP00000400585:P225T;ENSP00000302021:P225T	.	P	+	1	0	MUC7	71381723	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.523000	0.02235	-0.025000	0.13918	0.655000	0.94253	CCA		0.587	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		10	161	1	0	5.50884e-06	0.001368	6.74235e-06	10	161				
EREG	2069	broad.mit.edu	37	4	75250497	75250497	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:75250497C>T	ENST00000244869.2	+	5	648	c.482C>T	c.(481-483)tCa>tTa	p.S161L	EREG_ENST00000503689.1_3'UTR	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	161					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|luteinizing hormone signaling pathway (GO:0042700)|mRNA transcription (GO:0009299)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smooth muscle cell differentiation (GO:0051151)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|organ morphogenesis (GO:0009887)|ovarian cumulus expansion (GO:0001550)|ovulation (GO:0030728)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine biosynthetic process (GO:0042108)|positive regulation of cytokine production (GO:0001819)|positive regulation of DNA replication (GO:0045740)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of innate immune response (GO:0045089)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of smooth muscle cell proliferation (GO:0048661)|primary follicle stage (GO:0048160)|response to peptide hormone (GO:0043434)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	epidermal growth factor receptor binding (GO:0005154)	p.S161L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			AGAGTTACCTCAGGGGATCCA	0.388																																							uc003hie.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(481-483)TCA>TTA		epiregulin preproprotein							82.0	84.0	83.0					4																	75250497		2203	4300	6503	SO:0001583	missense	2069				angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity	g.chr4:75250497C>T	D30783	CCDS3564.1	4q21.21	2008-07-29			ENSG00000124882	ENSG00000124882			3443	protein-coding gene	gene with protein product		602061				9337852	Standard	NM_001432		Approved	ER	uc003hie.1	O14944	OTTHUMG00000130005	ENST00000244869.2:c.482C>T	4.37:g.75250497C>T	ENSP00000244869:p.Ser161Leu						p.S161L	NM_001432	NP_001423	O14944	EREG_HUMAN	Lung(101;0.196)		5	648	+			161			Cytoplasmic (Potential).		B2RC66|Q6FH69	Missense_Mutation	SNP	ENST00000244869.2	37	c.482C>T	CCDS3564.1	.	.	.	.	.	.	.	.	.	.	C	4.941	0.174814	0.09391	.	.	ENSG00000124882	ENST00000244869	T	0.25579	1.79	5.52	3.79	0.43588	.	0.757993	0.12075	N	0.501881	T	0.18215	0.0437	L	0.27053	0.805	0.23809	N	0.99679	B	0.09022	0.002	B	0.10450	0.005	T	0.15607	-1.0431	10	0.35671	T	0.21	-12.6662	9.0026	0.36092	0.0:0.8241:0.0:0.1759	.	161	O14944	EREG_HUMAN	L	161	ENSP00000244869:S161L	ENSP00000244869:S161L	S	+	2	0	EREG	75469361	0.076000	0.21285	0.931000	0.37212	0.069000	0.16628	0.763000	0.26517	1.338000	0.45544	-0.444000	0.05651	TCA		0.388	EREG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252276.1			6	39	0	0	0	0.001984	0	6	39				
NUP54	53371	broad.mit.edu	37	4	77065569	77065569	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:77065569G>C	ENST00000264883.3	-	2	265	c.125C>G	c.(124-126)tCt>tGt	p.S42C	NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000514987.1_Missense_Mutation_p.S42C|NUP54_ENST00000458189.2_5'UTR	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	42	9 X 2 AA repeats of F-G.|Gly-rich.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)	p.S42C(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AGTTGGGGCAGAAAAGCTGAA	0.358																																							uc003hjs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(124-126)TCT>TGT		nucleoporin 54kDa							87.0	86.0	87.0					4																	77065569		2203	4300	6503	SO:0001583	missense	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77065569G>C	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.125C>G	4.37:g.77065569G>C	ENSP00000264883:p.Ser42Cys					NUP54_uc010ije.2_5'UTR|NUP54_uc011cbs.1_5'UTR|NUP54_uc011cbt.1_Missense_Mutation_p.S42C|NUP54_uc003hjt.2_5'UTR	p.S42C	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN			2	253	-			42			Gly-rich.|Thr-rich.|9 X 2 AA repeats of F-G.		B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	ENST00000264883.3	37	c.125C>G	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738254	0.49045	.	.	ENSG00000138750	ENST00000264883;ENST00000514987;ENST00000514901	.	.	.	6.06	6.06	0.98353	.	0.295637	0.38164	N	0.001786	T	0.66829	0.2829	L	0.47716	1.5	0.80722	D	1	B;B	0.22480	0.07;0.07	B;B	0.31686	0.134;0.111	T	0.63056	-0.6722	9	0.66056	D	0.02	-16.4955	18.8088	0.92050	0.0:0.0:1.0:0.0	.	42;42	B4DT35;Q7Z3B4	.;NUP54_HUMAN	C	42;42;96	.	ENSP00000264883:S42C	S	-	2	0	NUP54	77284593	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.210000	0.65214	2.871000	0.98454	0.655000	0.94253	TCT		0.358	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			7	51	0	0	0	0.00308	0	7	51				
SEC31A	22872	broad.mit.edu	37	4	83795890	83795890	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:83795890G>T	ENST00000395310.2	-	6	695	c.513C>A	c.(511-513)atC>atA	p.I171I	SEC31A_ENST00000264405.5_5'Flank|SEC31A_ENST00000509142.1_Silent_p.I171I|SEC31A_ENST00000443462.2_Silent_p.I166I|SEC31A_ENST00000505984.1_Silent_p.I171I|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000448323.1_Silent_p.I171I|SEC31A_ENST00000508502.1_Silent_p.I171I|SEC31A_ENST00000348405.4_Silent_p.I171I|SEC31A_ENST00000326950.5_Silent_p.I171I|SEC31A_ENST00000513858.1_Silent_p.I171I|SEC31A_ENST00000505472.1_Silent_p.I171I|SEC31A_ENST00000500777.2_Silent_p.I171I|SEC31A_ENST00000508479.1_Silent_p.I171I|SEC31A_ENST00000432794.1_Silent_p.I171I|SEC31A_ENST00000355196.2_Silent_p.I171I|SEC31A_ENST00000311785.7_Silent_p.I171I	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	171	Interaction with SEC13.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.I171I(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CAATGCAGCTGATATCTTCTG	0.383																																							uc003hnf.2		NA																SEC31A/JAK2(4)|SEC31A/ALK(3)	2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8						c.(511-513)ATC>ATA		SEC31 homolog A isoform 1							103.0	107.0	105.0					4																	83795890		2203	4300	6503	SO:0001819	synonymous_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83795890G>T	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.513C>A	4.37:g.83795890G>T						SEC31A_uc003hne.2_5'Flank|SEC31A_uc011ccl.1_Silent_p.I171I|SEC31A_uc003hnl.2_Silent_p.I171I|SEC31A_uc003hng.2_Silent_p.I171I|SEC31A_uc003hnh.2_Silent_p.I171I|SEC31A_uc003hni.2_Silent_p.I171I|SEC31A_uc003hnj.2_Silent_p.I171I|SEC31A_uc011ccm.1_Silent_p.I166I|SEC31A_uc011ccn.1_Silent_p.I171I|SEC31A_uc003hnk.2_Silent_p.I171I|SEC31A_uc003hnm.2_Silent_p.I171I|SEC31A_uc003hnn.1_Silent_p.I171I|SEC31A_uc003hno.2_Silent_p.I171I	p.I171I	NM_001077207	NP_001070675	O94979	SC31A_HUMAN			6	677	-		Hepatocellular(203;0.114)	171			WD 3.|Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	c.513C>A	CCDS3596.1																																																																																				0.383	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		6	108	1	0	0.000157383	0.00308	0.000178208	6	108				
WDFY3	23001	broad.mit.edu	37	4	85771119	85771119	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:85771119G>A	ENST00000295888.4	-	5	647	c.240C>T	c.(238-240)ttC>ttT	p.F80F	WDFY3_ENST00000322366.6_Silent_p.F80F	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	80					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.F80F(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTTGTGTTGTGAACTGCAGAA	0.368																																							uc003hpd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(238-240)TTC>TTT		WD repeat and FYVE domain containing 3 isoform							132.0	128.0	129.0					4																	85771119		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85771119G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.240C>T	4.37:g.85771119G>A						WDFY3_uc003hpf.2_Silent_p.F80F	p.F80F	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	5	648	-		Hepatocellular(203;0.114)	80					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.240C>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	9.860	1.195976	0.22037	.	.	ENSG00000163625	ENST00000514071	.	.	.	5.49	4.42	0.53409	.	.	.	.	.	T	0.57213	0.2038	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53429	-0.8440	4	.	.	.	.	7.3025	0.26428	0.2521:0.0:0.7479:0.0	.	.	.	.	L	17	.	.	S	-	2	0	WDFY3	85990143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.130000	0.50508	2.734000	0.93682	0.655000	0.94253	TCA		0.368	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		11	125	0	0	0	0.010729	0	11	125				
MMRN1	22915	broad.mit.edu	37	4	90857896	90857896	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:90857896C>A	ENST00000394980.1	+	7	3384	c.3065C>A	c.(3064-3066)aCc>aAc	p.T1022N	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.T1022N|MMRN1_ENST00000508372.1_Missense_Mutation_p.T764N			Q13201	MMRN1_HUMAN	multimerin 1	1022					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)		p.T1022N(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTAAATCTTACCACAGTCCTG	0.373																																							uc003hst.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(3064-3066)ACC>AAC		multimerin 1							55.0	59.0	58.0					4																	90857896		2145	4192	6337	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90857896C>A	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.3065C>A	4.37:g.90857896C>A	ENSP00000378431:p.Thr1022Asn					MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Missense_Mutation_p.T764N	p.T1022N	NM_007351	NP_031377	Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	6	3136	+		Hepatocellular(203;0.114)	1022					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.3065C>A	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.364808	0.41902	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.67865	0.06;0.06;-0.29	4.83	4.83	0.62350	Concanavalin A-like lectin/glucanase, subgroup (1);	0.075876	0.53938	D	0.000045	T	0.79197	0.4405	M	0.61703	1.905	0.80722	D	1	D	0.69078	0.997	D	0.64042	0.921	T	0.81118	-0.1078	10	0.66056	D	0.02	.	18.8139	0.92070	0.0:1.0:0.0:0.0	.	1022	Q13201	MMRN1_HUMAN	N	1022;1022;764	ENSP00000378431:T1022N;ENSP00000264790:T1022N;ENSP00000426461:T764N	ENSP00000264790:T1022N	T	+	2	0	MMRN1	91076919	0.839000	0.29477	0.129000	0.21949	0.941000	0.58515	3.481000	0.53179	2.600000	0.87896	0.563000	0.77884	ACC		0.373	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		7	61	1	0	1.12685e-05	0.004482	1.36319e-05	7	61				
SMARCAD1	56916	broad.mit.edu	37	4	95195932	95195932	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:95195932G>T	ENST00000354268.4	+	13	1789	c.1716G>T	c.(1714-1716)aaG>aaT	p.K572N	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.K572N|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.K142N			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	572	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.K572N(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CTACTTTGAAGGTCCTCTGTT	0.323																																							uc003htc.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(1714-1716)AAG>AAT		SWI/SNF-related, matrix-associated							194.0	195.0	194.0					4																	95195932		2203	4300	6503	SO:0001583	missense	56916				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	g.chr4:95195932G>T	AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.1716G>T	4.37:g.95195932G>T	ENSP00000346217:p.Lys572Asn					SMARCAD1_uc003htb.3_Missense_Mutation_p.K572N|SMARCAD1_uc003htd.3_Missense_Mutation_p.K572N|SMARCAD1_uc010ila.2_Missense_Mutation_p.K435N|SMARCAD1_uc011cdw.1_Missense_Mutation_p.K142N	p.K572N	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)	13	1971	+			572			Helicase ATP-binding.		B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	ENST00000354268.4	37	c.1716G>T	CCDS3639.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.291376	0.23564	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000354268;ENST00000509418	D;D;D;D	0.93307	-3.14;-3.14;-3.14;-3.2	5.56	-3.01	0.05463	DEAD-like helicase (2);SNF2-related (1);	0.401696	0.20935	N	0.083035	T	0.82195	0.4984	N	0.25789	0.76	0.36309	D	0.857544	B;B	0.02656	0.0;0.0	B;B	0.12156	0.007;0.004	T	0.64613	-0.6366	10	0.12430	T	0.62	-7.6016	3.7342	0.08504	0.1426:0.0996:0.114:0.6439	.	572;572	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	N	572;572;572;142	ENSP00000351947:K572N;ENSP00000415576:K572N;ENSP00000346217:K572N;ENSP00000423286:K142N	ENSP00000346217:K572N	K	+	3	2	SMARCAD1	95414955	0.821000	0.29204	0.967000	0.41034	0.988000	0.76386	-0.084000	0.11268	-0.659000	0.05359	0.650000	0.86243	AAG		0.323	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253583.1	NM_020159		31	76	1	0	2.85442e-18	0.010818	4.81423e-18	31	76				
UNC5C	8633	broad.mit.edu	37	4	96140288	96140288	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:96140288C>T	ENST00000453304.1	-	9	1825	c.1477G>A	c.(1477-1479)Gac>Aac	p.D493N	UNC5C_ENST00000506749.1_Missense_Mutation_p.D512N	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	493					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)	p.D493N(1)		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)		TCAGAGAGGTCATCTTGGGGG	0.507																																							uc003htp.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1477-1479)GAC>AAC		unc5C precursor							218.0	196.0	203.0					4																	96140288		2203	4300	6503	SO:0001583	missense	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96140288C>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.1477G>A	4.37:g.96140288C>T	ENSP00000406022:p.Asp493Asn					UNC5C_uc010ilc.1_Missense_Mutation_p.D512N|UNC5C_uc003htq.2_Missense_Mutation_p.D512N	p.D493N	NM_003728	NP_003719	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	9	1631	-		Hepatocellular(203;0.114)	493			Cytoplasmic (Potential).		Q8IUT0	Missense_Mutation	SNP	ENST00000453304.1	37	c.1477G>A	CCDS3643.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253134	0.59212	.	.	ENSG00000182168	ENST00000453304;ENST00000331502;ENST00000513796;ENST00000506749	T;T;T	0.58060	0.66;0.36;0.36	5.45	5.45	0.79879	.	0.142618	0.64402	D	0.000008	T	0.57110	0.2031	M	0.67397	2.05	0.80722	D	1	B;B;B	0.31383	0.042;0.321;0.115	B;B;B	0.33454	0.017;0.164;0.076	T	0.60672	-0.7217	10	0.72032	D	0.01	.	19.2996	0.94138	0.0:1.0:0.0:0.0	.	493;512;493	A8K385;E0CX15;O95185	.;.;UNC5C_HUMAN	N	493;452;512;512	ENSP00000406022:D493N;ENSP00000426924:D512N;ENSP00000426153:D512N	ENSP00000328673:D452N	D	-	1	0	UNC5C	96359311	1.000000	0.71417	0.997000	0.53966	0.386000	0.30323	7.629000	0.83207	2.555000	0.86185	0.655000	0.94253	GAC		0.507	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		27	165	0	0	0	0.004656	0	27	165				
RAP1GDS1	5910	broad.mit.edu	37	4	99300218	99300218	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:99300218G>A	ENST00000408927.3	+	5	525	c.412G>A	c.(412-414)Gac>Aac	p.D138N	RAP1GDS1_ENST00000512857.1_Intron|RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.D139N|RAP1GDS1_ENST00000380158.4_Intron|RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.D139N	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	138					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)	p.D139N(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GATTGTAATTGACCATTTAAG	0.383			T	NUP98	T-ALL																																		uc003htx.3		NA		Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(412-414)GAC>AAC		RAP1, GTP-GDP dissociation stimulator 1 isoform							139.0	136.0	137.0					4																	99300218		1907	4127	6034	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99300218G>A		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.412G>A	4.37:g.99300218G>A	ENSP00000386153:p.Asp138Asn					RAP1GDS1_uc003htu.2_Missense_Mutation_p.D138N|RAP1GDS1_uc003htw.3_Missense_Mutation_p.D139N|RAP1GDS1_uc003htv.3_Missense_Mutation_p.D139N|RAP1GDS1_uc003htz.3_Intron|RAP1GDS1_uc003hty.3_Intron|RAP1GDS1_uc003hua.3_Intron	p.D138N	NM_001100427	NP_001093897	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	5	602	+			138					E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.412G>A	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717710	0.89205	.	.	ENSG00000138698	ENST00000508213;ENST00000408927;ENST00000453712;ENST00000511212;ENST00000339360	T;T;T;T;T	0.51325	0.71;0.81;0.81;0.71;0.81	5.95	5.95	0.96441	Armadillo-like helical (1);Armadillo-type fold (1);	0.053938	0.64402	D	0.000001	T	0.30823	0.0777	N	0.08118	0	0.51233	D	0.999911	B;B;B;P	0.37781	0.421;0.421;0.007;0.608	B;B;B;B	0.35413	0.118;0.118;0.009;0.202	T	0.10064	-1.0646	10	0.19590	T	0.45	-12.3461	20.3931	0.98965	0.0:0.0:1.0:0.0	.	138;139;139;138	P52306;Q4QQI8;G5E9P9;B3KNU0	GDS1_HUMAN;.;.;.	N	97;138;139;97;139	ENSP00000426096:D97N;ENSP00000386153:D138N;ENSP00000407157:D139N;ENSP00000421599:D97N;ENSP00000340454:D139N	ENSP00000340454:D139N	D	+	1	0	RAP1GDS1	99519241	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.577000	0.82486	2.824000	0.97209	0.655000	0.94253	GAC		0.383	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		33	107	0	0	0	0.012213	0	33	107				
RAP1GDS1	5910	broad.mit.edu	37	4	99341260	99341260	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:99341260T>G	ENST00000408927.3	+	11	1378	c.1265T>G	c.(1264-1266)cTt>cGt	p.L422R	RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.L331R|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.L423R|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.L374R|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.L373R|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.L423R	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	422					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)	p.L423R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		CAGTTCAAACTTCTGGGAACA	0.343			T	NUP98	T-ALL																																		uc003htx.3		NA		Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(1264-1266)CTT>CGT		RAP1, GTP-GDP dissociation stimulator 1 isoform							79.0	76.0	77.0					4																	99341260		1807	4078	5885	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99341260T>G		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1265T>G	4.37:g.99341260T>G	ENSP00000386153:p.Leu422Arg					RAP1GDS1_uc003htw.3_Missense_Mutation_p.L423R|RAP1GDS1_uc003htv.3_Missense_Mutation_p.L423R|RAP1GDS1_uc003htz.3_Missense_Mutation_p.L373R|RAP1GDS1_uc003hty.3_Missense_Mutation_p.L374R|RAP1GDS1_uc003hua.3_Missense_Mutation_p.L331R	p.L422R	NM_001100427	NP_001093897	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	11	1455	+			422			ARM 4.		E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.1265T>G	CCDS43253.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671260	0.88348	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360	T;T;T;T;T;T	0.51817	0.69;1.51;0.69;0.69;0.69;0.69	6.06	6.06	0.98353	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.68851	0.3046	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.998;0.996;0.997;1.0	D;D;D;P;P;D	0.91635	0.999;0.996;0.991;0.802;0.897;0.992	T	0.70498	-0.4855	10	0.56958	D	0.05	-6.2307	16.6154	0.84909	0.0:0.0:0.0:1.0	.	331;373;374;422;423;423	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.;.;.;GDS1_HUMAN;.;.	R	374;331;422;423;373;423	ENSP00000369503:L374R;ENSP00000264572:L331R;ENSP00000386153:L422R;ENSP00000407157:L423R;ENSP00000386223:L373R;ENSP00000340454:L423R	ENSP00000264572:L331R	L	+	2	0	RAP1GDS1	99560283	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.664000	0.83830	2.315000	0.78130	0.533000	0.62120	CTT		0.343	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		12	61	0	0	0	0.010729	0	12	61				
ADH1A	124	broad.mit.edu	37	4	100208120	100208120	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:100208120G>T	ENST00000209668.2	-	3	259	c.146C>A	c.(145-147)aCa>aAa	p.T49K	ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	49					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)	p.T49K(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	GTGGTCATCTGTGCCACAGAT	0.473																																							uc003hur.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(145-147)ACA>AAA		class I alcohol dehydrogenase, alpha subunit	Fomepizole(DB01213)|NADH(DB00157)						141.0	127.0	132.0					4																	100208120		2203	4300	6503	SO:0001583	missense	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100208120G>T	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.146C>A	4.37:g.100208120G>T	ENSP00000209668:p.Thr49Lys					uc003hum.1_RNA|ADH1A_uc011ceg.1_Missense_Mutation_p.T49K|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.1_Missense_Mutation_p.T49K	p.T49K	NM_000667	NP_000658	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	3	217	-			49					A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	c.146C>A	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.484148	0.63962	.	.	ENSG00000187758	ENST00000209668	T	0.05649	3.41	2.79	2.79	0.32731	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.432154	0.24341	N	0.039373	T	0.23846	0.0577	H	0.98738	4.315	0.58432	D	0.99999	B	0.34313	0.448	B	0.35859	0.212	T	0.49934	-0.8886	10	0.87932	D	0	-0.1191	13.9907	0.64364	0.0:0.0:1.0:0.0	.	49	P07327	ADH1A_HUMAN	K	49	ENSP00000209668:T49K	ENSP00000209668:T49K	T	-	2	0	ADH1A	100427143	0.996000	0.38824	0.054000	0.19295	0.007000	0.05969	8.665000	0.91144	1.544000	0.49359	0.460000	0.39030	ACA		0.473	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	NM_000667		39	104	1	0	3.38236e-24	0.006999	5.89513e-24	39	104				
MANBA	4126	broad.mit.edu	37	4	103557061	103557061	+	Silent	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:103557061A>G	ENST00000226578.4	-	15	2217	c.2118T>C	c.(2116-2118)ggT>ggC	p.G706G	MANBA_ENST00000505239.1_Silent_p.G649G	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	706					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)	p.G706G(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GATCTGACACACCATAGATAT	0.378																																							uc003hwg.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2116-2118)GGT>GGC		mannosidase, beta A, lysosomal precursor							99.0	95.0	97.0					4																	103557061		2203	4300	6503	SO:0001819	synonymous_variant	4126				carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	g.chr4:103557061A>G		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.2118T>C	4.37:g.103557061A>G						MANBA_uc011ces.1_Silent_p.G649G	p.G706G	NM_005908	NP_005899	O00462	MANBA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)	15	2218	-		Hepatocellular(203;0.217)	706					Q96BC3|Q9NYX9	Silent	SNP	ENST00000226578.4	37	c.2118T>C	CCDS3658.1																																																																																				0.378	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2			9	49	0	0	0	0.006214	0	9	49				
BBS12	166379	broad.mit.edu	37	4	123664621	123664621	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:123664621G>A	ENST00000314218.3	+	2	1767	c.1574G>A	c.(1573-1575)cGt>cAt	p.R525H	BBS12_ENST00000542236.1_Missense_Mutation_p.R525H	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	525			R -> H (in BBS12). {ECO:0000269|PubMed:21344540}.		cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)	p.R525H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TGTGCCTATCGTTTGTATTAT	0.403									Bardet-Biedl syndrome																														uc003ieu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1573-1575)CGT>CAT		Bardet-Biedl syndrome 12							142.0	141.0	141.0					4																	123664621		2203	4300	6503	SO:0001583	missense	166379	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123664621G>A	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1574G>A	4.37:g.123664621G>A	ENSP00000319062:p.Arg525His						p.R525H	NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN			2	1767	+			525					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	c.1574G>A	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185315	0.78677	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.78364	-1.17;-1.17	5.71	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.78830	0.4345	M	0.74258	2.255	0.58432	D	0.999998	D	0.53745	0.962	B	0.43386	0.418	T	0.81525	-0.0893	10	0.56958	D	0.05	-49.8867	14.6692	0.68932	0.0695:0.0:0.9305:0.0	.	525	Q6ZW61	BBS12_HUMAN	H	525	ENSP00000319062:R525H;ENSP00000438273:R525H	ENSP00000319062:R525H	R	+	2	0	BBS12	123884071	1.000000	0.71417	0.148000	0.22405	0.899000	0.52679	8.808000	0.91939	1.419000	0.47118	-0.229000	0.12294	CGT		0.403	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618		11	99	0	0	0	0.008291	0	11	99				
PCDH18	54510	broad.mit.edu	37	4	138451465	138451465	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:138451465C>A	ENST00000344876.4	-	1	2164	c.1778G>T	c.(1777-1779)gGg>gTg	p.G593V	PCDH18_ENST00000412923.2_Missense_Mutation_p.G593V|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.G373V|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	593	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G593V(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACTTTCAGCCCCTTTGGGAAT	0.468																																							uc003ihe.3		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(3)|skin(2)	5						c.(1777-1779)GGG>GTG		protocadherin 18 precursor							215.0	201.0	206.0					4																	138451465		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138451465C>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.1778G>T	4.37:g.138451465C>A	ENSP00000355082:p.Gly593Val					PCDH18_uc003ihf.3_Missense_Mutation_p.G586V|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.G373V|PCDH18_uc011cha.1_Intron	p.G593V	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	2165	-	all_hematologic(180;0.24)		593			Cadherin 6.|Extracellular (Potential).		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.1778G>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415431	0.42817	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.60548	0.18;0.18;0.18	5.83	5.83	0.93111	Cadherin (3);Cadherin-like (1);	0.182643	0.26731	N	0.022791	T	0.45836	0.1362	L	0.31752	0.955	0.80722	D	1	B;B;B	0.33345	0.351;0.409;0.408	B;B;B	0.37144	0.187;0.189;0.242	T	0.47959	-0.9076	10	0.54805	T	0.06	.	7.6564	0.28377	0.0:0.807:0.0:0.193	.	373;593;593	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	V	593;593;373	ENSP00000355082:G593V;ENSP00000390688:G593V;ENSP00000425903:G373V	ENSP00000355082:G593V	G	-	2	0	PCDH18	138670915	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.562000	0.45914	2.746000	0.94184	0.563000	0.77884	GGG		0.468	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035		15	194	1	0	2.23348e-06	0.004007	2.80259e-06	15	194				
TBC1D9	23158	broad.mit.edu	37	4	141543672	141543672	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:141543672T>A	ENST00000442267.2	-	21	3552	c.3478A>T	c.(3478-3480)Agc>Tgc	p.S1160C		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1160							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.S1160C(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GACATGGAGCTGTCGTCCTTG	0.627																																							uc010ioj.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3478-3480)AGC>TGC		TBC1 domain family, member 9 (with GRAM domain)							73.0	79.0	77.0					4																	141543672		2121	4230	6351	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141543672T>A	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.3478A>T	4.37:g.141543672T>A	ENSP00000411197:p.Ser1160Cys						p.S1160C	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			21	3750	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	1160					A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.3478A>T	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367319	0.82463	.	.	ENSG00000109436	ENST00000442267	T	0.53423	0.62	5.01	5.01	0.66863	.	.	.	.	.	T	0.52645	0.1747	L	0.44542	1.39	0.58432	D	0.999994	P	0.47253	0.892	P	0.51866	0.682	T	0.55276	-0.8166	9	0.56958	D	0.05	.	14.7505	0.69522	0.0:0.0:0.0:1.0	.	1160	Q6ZT07	TBCD9_HUMAN	C	1160	ENSP00000411197:S1160C	ENSP00000411197:S1160C	S	-	1	0	TBC1D9	141763122	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.270000	0.72563	1.881000	0.54492	0.533000	0.62120	AGC		0.627	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130		8	93	0	0	0	0.00308	0	8	93				
ZNF827	152485	broad.mit.edu	37	4	146813424	146813424	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:146813424G>C	ENST00000508784.1	-	3	1464	c.1237C>G	c.(1237-1239)Cgc>Ggc	p.R413G	ZNF827_ENST00000379448.4_Missense_Mutation_p.R413G|ZNF827_ENST00000513320.1_Missense_Mutation_p.R63G			Q17R98	ZN827_HUMAN	zinc finger protein 827	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R413G(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TTGTCCTTGCGAGCACACCGG	0.507																																							uc003ikn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1237-1239)CGC>GGC		zinc finger protein 827							155.0	128.0	137.0					4																	146813424		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146813424G>C	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1237C>G	4.37:g.146813424G>C	ENSP00000421863:p.Arg413Gly					ZNF827_uc003ikm.2_Missense_Mutation_p.R413G|ZNF827_uc010iox.2_Missense_Mutation_p.R63G	p.R413G	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			3	1285	-	all_hematologic(180;0.151)		413			C2H2-type 2.		B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.1237C>G		.	.	.	.	.	.	.	.	.	.	G	31	5.099114	0.94197	.	.	ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000440280	T;T;T	0.30182	1.54;1.54;1.54	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.57799	0.2078	M	0.66560	2.04	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.992	D;D;D	0.85130	0.994;0.997;0.955	T	0.53041	-0.8494	10	0.54805	T	0.06	-23.6941	20.6439	0.99570	0.0:0.0:1.0:0.0	.	63;413;413	G5E9Z1;Q17R98;Q17R98-2	.;ZN827_HUMAN;.	G	413;63;413;412;63	ENSP00000421863:R413G;ENSP00000423130:R63G;ENSP00000368761:R413G	ENSP00000281318:R412G	R	-	1	0	ZNF827	147032874	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.884000	0.98904	0.655000	0.94253	CGC		0.507	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		17	61	0	0	0	0.012319	0	17	61				
FGB	2244	broad.mit.edu	37	4	155490450	155490450	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:155490450G>T	ENST00000302068.4	+	6	1012	c.949G>T	c.(949-951)Ggc>Tgc	p.G317C	FGB_ENST00000509493.1_Missense_Mutation_p.G98C|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	317	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|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)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)	p.G317C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GAATTACTGTGGCCTACCAGG	0.378																																					NSCLC(106;1133 1613 21870 46110 52656)	NSCLC(106;1133 1613 21870 46110 52656)	uc003ioa.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(949-951)GGC>TGC		fibrinogen, beta chain preproprotein	Sucralfate(DB00364)						132.0	126.0	128.0					4																	155490450		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490450G>T		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.949G>T	4.37:g.155490450G>T	ENSP00000306099:p.Gly317Cys					FGB_uc003iob.3_Missense_Mutation_p.G314C|FGB_uc010ipv.2_Missense_Mutation_p.G255C|FGB_uc010ipw.2_Intron|FGB_uc003ioc.3_Missense_Mutation_p.G98C	p.G317C	NM_005141	NP_005132	P02675	FIBB_HUMAN			6	988	+	all_hematologic(180;0.215)	Renal(120;0.0458)	317			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.949G>T	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352304	0.61293	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.80653	-1.4;-1.4	5.67	5.67	0.87782	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.189782	0.56097	D	0.000029	D	0.84705	0.5531	N	0.22421	0.69	0.43724	D	0.996208	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.86127	0.1572	10	0.72032	D	0.01	.	20.1421	0.98061	0.0:0.0:1.0:0.0	.	300;317	B4E1D3;P02675	.;FIBB_HUMAN	C	317;300;98	ENSP00000306099:G317C;ENSP00000426757:G98C	ENSP00000306099:G317C	G	+	1	0	FGB	155709900	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	4.443000	0.59994	2.836000	0.97738	0.655000	0.94253	GGC		0.378	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		17	57	1	0	1.00905e-13	0.008871	1.57466e-13	17	57				
TMEM144	55314	broad.mit.edu	37	4	159158747	159158747	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:159158747G>T	ENST00000296529.6	+	9	1154	c.634G>T	c.(634-636)Gac>Tac	p.D212Y	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	212						integral component of membrane (GO:0016021)		p.D212Y(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		CTACATCAAGGACCACAGCAA	0.328																																							uc003ipx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(634-636)GAC>TAC		transmembrane protein 144							118.0	116.0	117.0					4																	159158747		2203	4300	6503	SO:0001583	missense	55314					integral to membrane		g.chr4:159158747G>T	AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.634G>T	4.37:g.159158747G>T	ENSP00000296529:p.Asp212Tyr					TMEM144_uc010iqi.2_RNA	p.D212Y	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN		COAD - Colon adenocarcinoma(41;0.0539)	9	1154	+	all_hematologic(180;0.24)	Renal(120;0.0854)	212					D3DP24|Q49A05|Q9NUT3	Missense_Mutation	SNP	ENST00000296529.6	37	c.634G>T	CCDS3799.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635202	0.47049	.	.	ENSG00000164124	ENST00000296529	T	0.50813	0.73	5.9	5.9	0.94986	.	0.102675	0.64402	D	0.000002	T	0.51381	0.1671	M	0.83223	2.63	0.80722	D	1	P	0.35575	0.51	B	0.32980	0.156	T	0.52631	-0.8550	10	0.33940	T	0.23	-58.2282	14.5372	0.67969	0.0:0.0:0.8529:0.1471	.	212	Q7Z5S9	TM144_HUMAN	Y	212	ENSP00000296529:D212Y	ENSP00000296529:D212Y	D	+	1	0	TMEM144	159378197	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.709000	0.47160	2.793000	0.96121	0.591000	0.81541	GAC		0.328	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365597.1	NM_018342		5	63	1	0	1.024e-07	0.000602	1.36533e-07	5	63				
NPY5R	4889	broad.mit.edu	37	4	164272464	164272464	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:164272464G>T	ENST00000515560.1	+	4	2561	c.1039G>T	c.(1039-1041)Gtt>Ttt	p.V347F	NPY5R_ENST00000338566.3_Missense_Mutation_p.V347F|NPY5R_ENST00000506953.1_Missense_Mutation_p.V347F			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	347					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)	p.V347F(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				AAATTCAGATGTTCATGAATT	0.368																																					Melanoma(139;1287 1774 9781 19750 25599)	Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(6)|skin(1)	7						c.(1039-1041)GTT>TTT		neuropeptide Y receptor Y5							75.0	74.0	74.0					4																	164272464		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272464G>T	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1039G>T	4.37:g.164272464G>T	ENSP00000423917:p.Val347Phe						p.V347F	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	1221	+	all_hematologic(180;0.166)	Prostate(90;0.109)	347			Cytoplasmic (Potential).		Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.1039G>T	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	G	6.096	0.385904	0.11524	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.72051	-0.62;-0.62;-0.62	4.49	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.645815	0.12509	N	0.462591	T	0.53417	0.1795	L	0.34521	1.04	0.09310	N	1	B	0.22909	0.077	B	0.21151	0.033	T	0.36625	-0.9740	10	0.25751	T	0.34	.	3.965	0.09428	0.3599:0.0:0.4764:0.1637	.	347	Q15761	NPY5R_HUMAN	F	347	ENSP00000339377:V347F;ENSP00000423917:V347F;ENSP00000423474:V347F	ENSP00000339377:V347F	V	+	1	0	NPY5R	164491914	0.066000	0.20996	0.003000	0.11579	0.793000	0.44817	0.886000	0.28241	0.499000	0.27970	0.467000	0.42956	GTT		0.368	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174		24	49	1	0	1.22574e-08	0.002299	1.69493e-08	24	49				
MARCH1	55016	broad.mit.edu	37	4	164534532	164534532	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:164534532G>T	ENST00000503008.1	-	5	1152	c.176C>A	c.(175-177)aCa>aAa	p.T59K	MARCH1_ENST00000274056.7_Missense_Mutation_p.T59K|MARCH1_ENST00000339875.5_Missense_Mutation_p.T42K|MARCH1_ENST00000514618.1_Missense_Mutation_p.T59K	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	59	Responsible for low stability. {ECO:0000250}.				antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T59K(1)|p.T42K(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTCCCTGTTGTTGGGCTGCT	0.398																																							uc003iqs.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)	2						c.(175-177)ACA>AAA		membrane-associated RING-CH protein I							123.0	115.0	118.0					4																	164534532		2203	4300	6503	SO:0001583	missense	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164534532G>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.176C>A	4.37:g.164534532G>T	ENSP00000427223:p.Thr59Lys					MARCH1_uc003iqr.1_Missense_Mutation_p.T42K	p.T59K	NM_017923	NP_060393	Q8TCQ1	MARH1_HUMAN			5	1153	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	59			Responsible for low stability (By similarity).		D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.176C>A	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.348682	0.82132	.	.	ENSG00000145416	ENST00000274056;ENST00000503008;ENST00000514618;ENST00000339875;ENST00000507270	T;T;T;T;T	0.42900	1.81;1.81;0.96;1.32;1.92	6.06	6.06	0.98353	.	0.529435	0.19870	N	0.104203	T	0.48077	0.1480	L	0.38175	1.15	0.40335	D	0.978972	D;B	0.61080	0.989;0.016	P;B	0.54706	0.759;0.037	T	0.16748	-1.0392	10	0.09843	T	0.71	.	20.6282	0.99521	0.0:0.0:1.0:0.0	.	59;42	Q8TCQ1;Q8TCQ1-2	MARH1_HUMAN;.	K	59;59;59;42;59	ENSP00000274056:T59K;ENSP00000427223:T59K;ENSP00000421322:T59K;ENSP00000345676:T42K;ENSP00000426731:T59K	ENSP00000274056:T59K	T	-	2	0	MARCH1	164753982	1.000000	0.71417	0.446000	0.26920	0.982000	0.71751	7.154000	0.77437	2.871000	0.98454	0.655000	0.94253	ACA		0.398	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		4	73	1	0	1.23904e-05	0.000602	1.48856e-05	4	73				
TRIM60	166655	broad.mit.edu	37	4	165961467	165961467	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:165961467C>A	ENST00000512596.1	+	3	459	c.243C>A	c.(241-243)ctC>ctA	p.L81L	TRIM60_ENST00000341062.5_Silent_p.L81L|TRIM60_ENST00000508504.1_Silent_p.L81L	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	81						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.L81L(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CTAAACAACTCCAGATTAGGA	0.438																																							uc003iqy.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(241-243)CTC>CTA		ring finger protein 129							77.0	76.0	77.0					4																	165961467		2203	4300	6503	SO:0001819	synonymous_variant	166655					intracellular	zinc ion binding	g.chr4:165961467C>A	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.243C>A	4.37:g.165961467C>A						TRIM60_uc010iqx.1_Silent_p.L81L	p.L81L	NM_152620	NP_689833	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	413	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	81					Q8NA35	Silent	SNP	ENST00000512596.1	37	c.243C>A	CCDS3808.1																																																																																				0.438	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		5	87	1	0	0.000602214	0.000602	0.000659027	5	87				
TLL1	7092	broad.mit.edu	37	4	166924717	166924717	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:166924717G>T	ENST00000061240.2	+	6	1454	c.807G>T	c.(805-807)caG>caT	p.Q269H	TLL1_ENST00000513213.1_Missense_Mutation_p.Q269H|TLL1_ENST00000507499.1_Missense_Mutation_p.Q269H	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	269	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q269H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AAAACATCCAGCCAGGTGAGA	0.383																																							uc003irh.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(805-807)CAG>CAT		tolloid-like 1 precursor							133.0	122.0	126.0					4																	166924717		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166924717G>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.807G>T	4.37:g.166924717G>T	ENSP00000061240:p.Gln269His					TLL1_uc011cjn.1_Missense_Mutation_p.Q269H|TLL1_uc011cjo.1_Missense_Mutation_p.Q93H	p.Q269H	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	6	1454	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	269			Metalloprotease (By similarity).		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.807G>T	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.172892	0.57584	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.64438	-0.1;-0.1;-0.1	5.35	2.68	0.31781	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.71736	0.3375	M	0.82923	2.615	0.58432	D	0.999999	D;D	0.65815	0.995;0.981	P;P	0.55785	0.784;0.631	T	0.72616	-0.4239	10	0.59425	D	0.04	.	8.1133	0.30928	0.3833:0.0:0.6167:0.0	.	269;269	E9PD25;O43897	.;TLL1_HUMAN	H	269	ENSP00000061240:Q269H;ENSP00000426082:Q269H;ENSP00000422937:Q269H	ENSP00000061240:Q269H	Q	+	3	2	TLL1	167144167	1.000000	0.71417	1.000000	0.80357	0.711000	0.40976	0.971000	0.29396	0.752000	0.32923	-0.252000	0.11476	CAG		0.383	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			7	31	1	0	8.12818e-05	0.001984	9.32508e-05	7	31				
GALNTL6	442117	broad.mit.edu	37	4	172735864	172735864	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:172735864C>A	ENST00000506823.1	+	2	790	c.133C>A	c.(133-135)Cag>Aag	p.Q45K	GALNTL6_ENST00000511251.1_Missense_Mutation_p.Q45K	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	45					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.Q45K(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GCCCGGGGAGCAGCAGGTAAG	0.547																																							uc003isv.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(133-135)CAG>AAG		N-acetylgalactosaminyltransferase-like 6							68.0	68.0	68.0					4																	172735864		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:172735864C>A		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.133C>A	4.37:g.172735864C>A	ENSP00000423313:p.Gln45Lys						p.Q45K	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			2	869	+			45			Lumenal (Potential).		Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.133C>A	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	C	6.860	0.527990	0.13127	.	.	ENSG00000174473	ENST00000511251;ENST00000506823;ENST00000404275	T	0.54675	0.56	5.9	5.9	0.94986	.	.	.	.	.	T	0.32376	0.0827	N	0.11560	0.145	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.22730	-1.0208	9	0.05833	T	0.94	.	17.4282	0.87532	0.0:1.0:0.0:0.0	.	45	Q49A17	GLTL6_HUMAN	K	45	ENSP00000423313:Q45K	ENSP00000385382:Q45K	Q	+	1	0	GALNTL6	172972439	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	4.839000	0.62810	2.793000	0.96121	0.563000	0.77884	CAG		0.547	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		3	24	1	0	2.56e-06	0.009096	3.2046e-06	3	24				
MORF4	10934	broad.mit.edu	37	4	174537206	174537206	+	IGR	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:174537206C>T								RP11-475B2.1 (21499 upstream) : RP11-161D15.2 (280338 downstream)																							AGTAATAAAGCAAGGCTCTTC	0.428																																							uc011cke.1		NA																	0					0						c.(589-591)GCT>ACT		mortality factor 4							115.0	106.0	109.0					4																	174537206		2203	4300	6503	SO:0001628	intergenic_variant	10934							g.chr4:174537206C>T																													4.37:g.174537206C>T							p.A197T	NM_006792	NP_006783				all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	589	-		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)							Missense_Mutation	SNP		37	c.589G>A																																																																																				0	0.428									7	110	0	0	0	0.00308	0	7	110				
WDR17	116966	broad.mit.edu	37	4	177058693	177058693	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:177058693G>T	ENST00000280190.4	+	10	1518	c.1362G>T	c.(1360-1362)ggG>ggT	p.G454G	WDR17_ENST00000508596.1_Silent_p.G430G|WDR17_ENST00000393643.2_Silent_p.G430G|WDR17_ENST00000507824.2_Silent_p.G437G			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	454								p.G454G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTATTGCTGGGGGAACTTCCC	0.289																																							uc003iuj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(1360-1362)GGG>GGT		WD repeat domain 17 isoform 1							76.0	81.0	79.0					4																	177058693		2202	4296	6498	SO:0001819	synonymous_variant	116966							g.chr4:177058693G>T	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1362G>T	4.37:g.177058693G>T						WDR17_uc003iuk.2_Silent_p.G430G|WDR17_uc003ium.3_Silent_p.G430G|WDR17_uc003iul.1_Intron	p.G454G	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	10	1518	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	454			WD 7.		E7EQX0|Q0QD35	Silent	SNP	ENST00000280190.4	37	c.1362G>T	CCDS3825.1																																																																																				0.289	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			9	40	1	0	2.17888e-05	0.006214	2.60269e-05	9	40				
ENPP6	133121	broad.mit.edu	37	4	185038113	185038113	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:185038113T>C	ENST00000296741.2	-	5	892	c.751A>G	c.(751-753)Aaa>Gaa	p.K251E		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	251					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)	p.K251E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TCAATCACTTTGTCCATCCAG	0.542																																							uc003iwc.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(751-753)AAA>GAA		ectonucleotide pyrophosphatase/phosphodiesterase							119.0	99.0	106.0					4																	185038113		2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185038113T>C	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.751A>G	4.37:g.185038113T>C	ENSP00000296741:p.Lys251Glu						p.K251E	NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	5	893	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	251			Extracellular (Potential).		Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.751A>G	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.782966	0.90282	.	.	ENSG00000164303	ENST00000296741;ENST00000512353	T;T	0.74209	-0.82;-0.82	6.03	4.81	0.61882	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.130503	0.64402	D	0.000002	T	0.78910	0.4358	L	0.56124	1.755	0.48185	D	0.999608	P	0.41498	0.752	P	0.51866	0.682	T	0.79650	-0.1715	10	0.72032	D	0.01	-12.4059	12.9868	0.58596	0.0:0.0:0.135:0.865	.	251	Q6UWR7	ENPP6_HUMAN	E	251;163	ENSP00000296741:K251E;ENSP00000423497:K163E	ENSP00000296741:K251E	K	-	1	0	ENPP6	185275107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.284000	0.58983	1.052000	0.40392	0.533000	0.62120	AAA		0.542	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		13	42	0	0	0	0.001368	0	13	42				
TUBB7P	56604	broad.mit.edu	37	4	190905503	190905504	+	IGR	DNP	GG	GG	TT	rs61746584	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:190905503_190905504GG>TT								FRG1 (21144 upstream) : RNA5SP174 (30788 downstream)														p.R61S(1)									AGCACAGCGCGGGACACGTACC	0.698																																							uc011clg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(178-183)TCCCGC>TCAAGC		tubulin, beta polypeptide 4, member Q																																				SO:0001628	intergenic_variant	56604				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr4:190905503_190905504GG>TT																													4.37:g.190905503_190905504delinsTT							p.R61S	NM_020040	NP_064424	Q99867	TBB4Q_HUMAN		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)	3	183_184	-		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	62						Missense_Mutation	DNP		37	c.180_181CC>AA																																																																																				0	0.698									20	45	0	0	0	0.004672	0	20	45				
SLC6A19	340024	broad.mit.edu	37	5	1212464	1212464	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:1212464G>A	ENST00000304460.10	+	4	584	c.528G>A	c.(526-528)tgG>tgA	p.W176*		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	176					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)	p.W176*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACTACTTCTGGTACCGAGAGA	0.622																																							uc003jbw.3		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(526-528)TGG>TGA		solute carrier family 6, member 19							163.0	139.0	147.0					5																	1212464		2203	4300	6503	SO:0001587	stop_gained	340024				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1212464G>A	AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.528G>A	5.37:g.1212464G>A	ENSP00000305302:p.Trp176*						p.W176*	NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		4	584	+	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		176			Extracellular (Potential).		A8K446	Nonsense_Mutation	SNP	ENST00000304460.10	37	c.528G>A	CCDS34130.1	.	.	.	.	.	.	.	.	.	.	G	37	6.296538	0.97453	.	.	ENSG00000174358	ENST00000304460	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.0871	0.93209	0.0:0.0:1.0:0.0	.	.	.	.	X	176	.	ENSP00000305302:W176X	W	+	3	0	SLC6A19	1265464	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	9.550000	0.98110	2.586000	0.87340	0.491000	0.48974	TGG		0.622	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365557.1	XM_291120		18	96	0	0	0	0.008871	0	18	96				
ADCY2	108	broad.mit.edu	37	5	7520894	7520894	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:7520894T>A	ENST00000338316.4	+	3	541	c.452T>A	c.(451-453)cTg>cAg	p.L151Q		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	151					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.L151Q(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TACACCATGCTGCCCTTCAAC	0.522																																							uc003jdz.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(451-453)CTG>CAG		adenylate cyclase 2							193.0	132.0	153.0					5																	7520894		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.chr5:7520894T>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.452T>A	5.37:g.7520894T>A	ENSP00000342952:p.Leu151Gln						p.L151Q	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			3	519	+			151			Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.452T>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	T	28.1	4.888234	0.91814	.	.	ENSG00000078295	ENST00000338316;ENST00000541993	D	0.82433	-1.61	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000003	D	0.91868	0.7426	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93213	0.6602	10	0.87932	D	0	.	13.2661	0.60135	0.0:0.0:0.0:1.0	.	151	Q08462	ADCY2_HUMAN	Q	151;2	ENSP00000342952:L151Q	ENSP00000342952:L151Q	L	+	2	0	ADCY2	7573894	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.308000	0.78929	2.059000	0.61396	0.528000	0.53228	CTG		0.522	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		27	88	0	0	0	0.005443	0	27	88				
SEMA5A	9037	broad.mit.edu	37	5	9108268	9108268	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:9108268C>A	ENST00000382496.5	-	16	2722	c.2057G>T	c.(2056-2058)tGt>tTt	p.C686F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	686	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.C686F(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCAGCCTGCACAGTCAGGCCC	0.547																																							uc003jek.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2056-2058)TGT>TTT		semaphorin 5A precursor							75.0	63.0	67.0					5																	9108268		2203	4300	6503	SO:0001583	missense	9037				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		g.chr5:9108268C>A	U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2057G>T	5.37:g.9108268C>A	ENSP00000371936:p.Cys686Phe						p.C686F	NM_003966	NP_003957	Q13591	SEM5A_HUMAN			16	2769	-			686			TSP type-1 3.|Extracellular (Potential).		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	c.2057G>T	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470518	0.84533	.	.	ENSG00000112902	ENST00000382496	T	0.69175	-0.38	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.89853	0.6835	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93247	0.6631	10	0.87932	D	0	.	16.3795	0.83443	0.0:1.0:0.0:0.0	.	686	Q13591	SEM5A_HUMAN	F	686	ENSP00000371936:C686F	ENSP00000371936:C686F	C	-	2	0	SEMA5A	9161268	1.000000	0.71417	0.978000	0.43139	0.994000	0.84299	7.152000	0.77419	2.941000	0.99782	0.655000	0.94253	TGT		0.547	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2			10	25	1	0	0.000442599	0.006214	0.000490004	10	25				
CMBL	134147	broad.mit.edu	37	5	10288614	10288614	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:10288614C>T	ENST00000296658.3	-	3	663	c.243G>A	c.(241-243)ggG>ggA	p.G81G	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	81						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)	p.G81G(1)		endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						AAGGCTCTTGCCCTACAAAGA	0.438																																							uc003jes.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(241-243)GGG>GGA		carboxymethylenebutenolidase							94.0	89.0	91.0					5																	10288614		2203	4300	6503	SO:0001819	synonymous_variant	134147					cytosol	hydrolase activity|protein binding	g.chr5:10288614C>T		CCDS3878.1	5p15.2	2010-06-25	2006-09-12		ENSG00000164237	ENSG00000164237	3.1.-.-		25090	protein-coding gene	gene with protein product		613379	"""carboxymethylenebutenolidase-like (Pseudomonas)"""			3804974, 20177059	Standard	NM_138809		Approved	FLJ23617	uc003jes.3	Q96DG6	OTTHUMG00000131043	ENST00000296658.3:c.243G>A	5.37:g.10288614C>T							p.G81G	NM_138809	NP_620164	Q96DG6	CMBL_HUMAN			3	694	-			81					D3DTC7|Q8TED6	Silent	SNP	ENST00000296658.3	37	c.243G>A	CCDS3878.1																																																																																				0.438	CMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253689.1	NM_138809		29	58	0	0	0	0.009535	0	29	58				
DNAH5	1767	broad.mit.edu	37	5	13841843	13841843	+	Silent	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:13841843T>G	ENST00000265104.4	-	33	5546	c.5442A>C	c.(5440-5442)acA>acC	p.T1814T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1814	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T1814T(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTGGAAACCTGTTTCTTGAA	0.388									Kartagener syndrome																														uc003jfd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(5440-5442)ACA>ACC		dynein, axonemal, heavy chain 5							97.0	97.0	97.0					5																	13841843		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13841843T>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5442A>C	5.37:g.13841843T>G							p.T1814T	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			33	5484	-	Lung NSC(4;0.00476)		1814			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.5442A>C	CCDS3882.1																																																																																				0.388	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		29	50	0	0	0	0.00632	0	29	50				
CDH18	1016	broad.mit.edu	37	5	19473682	19473682	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:19473682A>T	ENST00000507958.1	-	15	3016	c.2026T>A	c.(2026-2028)Ttg>Atg	p.L676M	CDH18_ENST00000382275.1_Missense_Mutation_p.L676M|CDH18_ENST00000274170.4_Missense_Mutation_p.L676M|CDH18_ENST00000506372.1_3'UTR|CDH18_ENST00000510297.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2	676					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L676M(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GGATTCCTCAAGGCTGTGATG	0.522																																							uc003jgc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(1)|skin(1)	7						c.(2026-2028)TTG>ATG		cadherin 18, type 2 preproprotein							151.0	141.0	144.0					5																	19473682		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19473682A>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.2026T>A	5.37:g.19473682A>T	ENSP00000425093:p.Leu676Met					CDH18_uc003jgd.2_Missense_Mutation_p.L676M|CDH18_uc011cnm.1_3'UTR	p.L676M	NM_004934	NP_004925	Q13634	CAD18_HUMAN			12	2403	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		676			Cytoplasmic (Potential).		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.2026T>A	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.411384	0.62399	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170	D;D;D	0.82711	-1.64;-1.64;-1.64	6.16	-0.426	0.12314	Cadherin, cytoplasmic domain (1);	0.000000	0.64402	D	0.000001	D	0.87888	0.6291	M	0.88241	2.94	0.32608	N	0.52504	P	0.51537	0.946	P	0.53689	0.732	D	0.89026	0.3438	9	.	.	.	.	11.3555	0.49613	0.5793:0.0:0.4207:0.0	.	676	Q13634	CAD18_HUMAN	M	676	ENSP00000371710:L676M;ENSP00000425093:L676M;ENSP00000274170:L676M	.	L	-	1	2	CDH18	19509439	0.114000	0.22134	0.474000	0.27266	0.983000	0.72400	0.611000	0.24268	-0.027000	0.13873	0.528000	0.53228	TTG		0.522	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		17	178	0	0	0	0.004007	0	17	178				
CDH12	1010	broad.mit.edu	37	5	21783481	21783481	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:21783481A>G	ENST00000382254.1	-	11	2465	c.1379T>C	c.(1378-1380)aTt>aCt	p.I460T	CDH12_ENST00000522262.1_Missense_Mutation_p.I420T|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.I460T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	460	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I460T(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTTACTCGCAATTATGGAGAA	0.383										HNSCC(59;0.17)																													uc010iuc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1378-1380)ATT>ACT		cadherin 12, type 2 preproprotein							160.0	157.0	158.0					5																	21783481		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21783481A>G	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.1379T>C	5.37:g.21783481A>G	ENSP00000371689:p.Ile460Thr	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.I420T|CDH12_uc003jgk.2_Missense_Mutation_p.I460T	p.I460T	NM_004061	NP_004052	P55289	CAD12_HUMAN			8	1837	-			460			Extracellular (Potential).|Cadherin 4.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.1379T>C	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.359186	0.24598	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.60299	0.2;0.2;0.2	5.54	5.54	0.83059	Cadherin (4);Cadherin-like (1);	0.048956	0.85682	D	0.000000	T	0.36799	0.0980	N	0.16307	0.4	0.51482	D	0.999925	B;P	0.36354	0.006;0.549	B;B	0.28385	0.038;0.089	T	0.30446	-0.9978	10	0.11182	T	0.66	.	15.6752	0.77311	1.0:0.0:0.0:0.0	.	420;460	B7Z2U6;P55289	.;CAD12_HUMAN	T	460;460;420	ENSP00000423577:I460T;ENSP00000371689:I460T;ENSP00000428786:I420T	ENSP00000371689:I460T	I	-	2	0	CDH12	21819238	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.853000	0.92222	2.099000	0.63709	0.533000	0.62120	ATT		0.383	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		27	127	0	0	0	0.005443	0	27	127				
CDH10	1008	broad.mit.edu	37	5	24491727	24491727	+	Missense_Mutation	SNP	C	C	A	rs369284486		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:24491727C>A	ENST00000264463.4	-	11	2341	c.1834G>T	c.(1834-1836)Ggg>Tgg	p.G612W	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	612					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G612W(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATCAAGGCCCCAGTGCTGAGG	0.507										HNSCC(23;0.051)																													uc003jgr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1834-1836)GGG>TGG		cadherin 10, type 2 preproprotein		C	TRP/GLY	1,4405	2.1+/-5.4	0,1,2202	105.0	98.0	101.0		1834	5.9	0.7	5		101	0,8600		0,0,4300	no	missense	CDH10	NM_006727.3	184	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	612/789	24491727	1,13005	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.chr5:24491727C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1834G>T	5.37:g.24491727C>A	ENSP00000264463:p.Gly612Trp	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.G612W	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	11	2166	-			612			Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1834G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086486	0.76642	2.27E-4	0.0	ENSG00000040731	ENST00000264463	T	0.58506	0.33	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.82733	0.5101	M	0.93062	3.375	0.53005	D	0.999965	D	0.89917	1.0	D	0.97110	1.0	D	0.86053	0.1527	10	0.87932	D	0	.	19.2409	0.93883	0.0:1.0:0.0:0.0	.	612	Q9Y6N8	CAD10_HUMAN	W	612	ENSP00000264463:G612W	ENSP00000264463:G612W	G	-	1	0	CDH10	24527484	1.000000	0.71417	0.727000	0.30756	0.845000	0.48019	6.014000	0.70784	2.788000	0.95919	0.557000	0.71058	GGG		0.507	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		20	89	1	0	2.27731e-05	0.012319	2.71715e-05	20	89				
CDH10	1008	broad.mit.edu	37	5	24498610	24498610	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:24498610G>T	ENST00000264463.4	-	9	1919	c.1412C>A	c.(1411-1413)aCa>aAa	p.T471K	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	471	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T471K(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCCACGCGTGTTGTCTCTTT	0.383										HNSCC(23;0.051)																													uc003jgr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1411-1413)ACA>AAA		cadherin 10, type 2 preproprotein							81.0	82.0	81.0					5																	24498610		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.chr5:24498610G>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.1412C>A	5.37:g.24498610G>T	ENSP00000264463:p.Thr471Lys	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.T471K	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	9	1744	-			471			Cadherin 4.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1412C>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	11.97	1.798076	0.31777	.	.	ENSG00000040731	ENST00000264463	T	0.51817	0.69	5.53	5.53	0.82687	Cadherin (5);Cadherin-like (1);	0.097504	0.64402	D	0.000002	T	0.52933	0.1765	L	0.61387	1.9	0.44843	D	0.997859	B	0.21606	0.058	B	0.30572	0.117	T	0.53739	-0.8396	10	0.87932	D	0	.	18.4486	0.90695	0.0:0.0:1.0:0.0	.	471	Q9Y6N8	CAD10_HUMAN	K	471	ENSP00000264463:T471K	ENSP00000264463:T471K	T	-	2	0	CDH10	24534367	1.000000	0.71417	0.925000	0.36789	0.392000	0.30506	4.143000	0.58051	2.613000	0.88420	0.655000	0.94253	ACA		0.383	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		19	94	1	0	3.73194e-20	0.010504	6.39761e-20	19	94				
CDH9	1007	broad.mit.edu	37	5	26881634	26881634	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:26881634C>A	ENST00000231021.4	-	12	2153	c.1981G>T	c.(1981-1983)Gat>Tat	p.D661Y		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	661					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D661Y(1)		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						CCGCCTTCATCGTTGTAGGTC	0.438																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1981-1983)GAT>TAT		cadherin 9, type 2 preproprotein							155.0	157.0	156.0					5																	26881634		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.chr5:26881634C>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.1981G>T	5.37:g.26881634C>A	ENSP00000231021:p.Asp661Tyr					CDH9_uc011cnv.1_Missense_Mutation_p.D254Y	p.D661Y	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			12	2150	-			661			Cytoplasmic (Potential).		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1981G>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737053	0.49045	.	.	ENSG00000113100	ENST00000231021	D	0.83335	-1.71	4.96	4.96	0.65561	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93390	0.7892	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95028	0.8166	9	.	.	.	.	17.1426	0.86758	0.0:1.0:0.0:0.0	.	254;661	B4DFP0;Q9ULB4	.;CADH9_HUMAN	Y	661	ENSP00000231021:D661Y	.	D	-	1	0	CDH9	26917391	1.000000	0.71417	0.998000	0.56505	0.186000	0.23388	7.744000	0.85034	2.447000	0.82792	0.557000	0.71058	GAT		0.438	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		56	258	1	0	4.17328e-34	0.00361	7.52488e-34	56	258				
CDH9	1007	broad.mit.edu	37	5	26885733	26885733	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:26885733G>T	ENST00000231021.4	-	11	2044	c.1872C>A	c.(1870-1872)ctC>ctA	p.L624L		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	624					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L624L(1)		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						TAAGCAGTATGAGGACACAGA	0.483																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1870-1872)CTC>CTA		cadherin 9, type 2 preproprotein							68.0	61.0	63.0					5																	26885733		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26885733G>T	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.1872C>A	5.37:g.26885733G>T						CDH9_uc011cnv.1_Silent_p.L217L	p.L624L	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			11	2041	-			624			Helical; (Potential).		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.1872C>A	CCDS3893.1																																																																																				0.483	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		28	39	1	0	5.61819e-17	0.005443	9.31014e-17	28	39				
CDH6	1004	broad.mit.edu	37	5	31317988	31317988	+	Silent	SNP	G	G	T	rs571410704		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:31317988G>T	ENST00000265071.2	+	11	2104	c.1839G>T	c.(1837-1839)acG>acT	p.T613T	CDH6_ENST00000514738.1_Silent_p.T558T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	613					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)	p.T613T(1)		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						GACTGAGCACGGGGGCTCTGG	0.592																																							uc003jhe.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(2)|large_intestine(1)	7						c.(1837-1839)ACG>ACT		cadherin 6, type 2 preproprotein							69.0	68.0	68.0					5																	31317988		2203	4300	6503	SO:0001819	synonymous_variant	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31317988G>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.1839G>T	5.37:g.31317988G>T						CDH6_uc003jhd.1_Silent_p.T613T	p.T613T	NM_004932	NP_004923	P55285	CADH6_HUMAN			11	2165	+			613			Extracellular (Potential).		A8K5H5|Q9BWS0	Silent	SNP	ENST00000265071.2	37	c.1839G>T	CCDS3894.1																																																																																				0.592	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		22	89	1	0	1.95232e-30	0.00278	3.47227e-30	22	89				
SLC45A2	51151	broad.mit.edu	37	5	33947283	33947283	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:33947283G>A	ENST00000296589.4	-	6	1499	c.1353C>T	c.(1351-1353)cgC>cgT	p.R451R	SLC45A2_ENST00000382102.3_Silent_p.R451R|SLC45A2_ENST00000342059.3_Silent_p.R392R	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	451					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.R451R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TTTCTTCCTCGCGGTGGTACT	0.517																																					Ovarian(31;380 859 8490 22203 49048)	Ovarian(31;380 859 8490 22203 49048)	uc003jid.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(1351-1353)CGC>CGT		membrane-associated transporter protein isoform							216.0	209.0	211.0					5																	33947283		2203	4300	6503	SO:0001819	synonymous_variant	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33947283G>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1353C>T	5.37:g.33947283G>A						SLC45A2_uc003jie.2_Silent_p.R451R	p.R451R	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN			6	1445	-			451			Cytoplasmic (Potential).		Q6P2P0|Q9BTM3	Silent	SNP	ENST00000296589.4	37	c.1353C>T	CCDS3901.1																																																																																				0.517	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		86	256	0	0	0	0.00361	0	86	256				
SLC1A3	6507	broad.mit.edu	37	5	36677263	36677263	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:36677263G>T	ENST00000265113.4	+	6	1313	c.837G>T	c.(835-837)atG>atT	p.M279I	CTD-2353F22.1_ENST00000510740.1_RNA|SLC1A3_ENST00000381918.3_Missense_Mutation_p.M279I	NM_004172.4	NP_004163.3	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 3	279					auditory behavior (GO:0031223)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cranial nerve development (GO:0021545)|D-aspartate import (GO:0070779)|gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate biosynthetic process (GO:0006537)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter uptake (GO:0001504)|positive regulation of synaptic transmission (GO:0050806)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cell surface (GO:0009986)|fibril (GO:0043205)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|high-affinity glutamate transmembrane transporter activity (GO:0005314)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.M279I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGCCATCATGAGACTGGTAG	0.403																																							uc003jkj.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(835-837)ATG>ATT		solute carrier family 1 (glial high affinity	L-Glutamic Acid(DB00142)						98.0	96.0	97.0					5																	36677263		2203	4300	6503	SO:0001583	missense	6507				D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr5:36677263G>T		CCDS3919.1, CCDS54844.1	5p13	2013-05-22			ENSG00000079215	ENSG00000079215		"""Solute carriers"""	10941	protein-coding gene	gene with protein product	"""glutamate transporter variant EAAT1ex9skip"""	600111				7521911, 7698014	Standard	NM_004172		Approved	EAAT1, GLAST, EA6	uc003jkj.4	P43003	OTTHUMG00000090793	ENST00000265113.4:c.837G>T	5.37:g.36677263G>T	ENSP00000265113:p.Met279Ile					SLC1A3_uc011cox.1_Missense_Mutation_p.M172I|SLC1A3_uc010iuy.2_Missense_Mutation_p.M279I	p.M279I	NM_004172	NP_004163	P43003	EAA1_HUMAN	Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1313	+	all_lung(31;0.000245)		279					B2R5T3|Q4JCQ8	Missense_Mutation	SNP	ENST00000265113.4	37	c.837G>T	CCDS3919.1	.	.	.	.	.	.	.	.	.	.	G	34	5.297730	0.95574	.	.	ENSG00000079215	ENST00000265113;ENST00000427100;ENST00000381918	T;T	0.60920	0.15;0.15	5.92	5.92	0.95590	.	0.032360	0.85682	N	0.000000	T	0.77212	0.4097	M	0.73217	2.22	0.80722	D	1	P;D	0.76494	0.587;0.999	P;D	0.76071	0.45;0.987	T	0.77747	-0.2472	10	0.87932	D	0	-37.0708	20.3206	0.98668	0.0:0.0:1.0:0.0	.	279;279	Q4JCQ8;P43003	.;EAA1_HUMAN	I	279;227;279	ENSP00000265113:M279I;ENSP00000371343:M279I	ENSP00000265113:M279I	M	+	3	0	SLC1A3	36713020	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.860000	0.99555	2.809000	0.96659	0.655000	0.94253	ATG		0.403	SLC1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207579.2	NM_004172		6	71	1	0	3.59834e-05	0.001168	4.21623e-05	6	71				
DEPDC1B	55789	broad.mit.edu	37	5	59899255	59899255	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:59899255G>C	ENST00000265036.5	-	9	1272	c.1205C>G	c.(1204-1206)tCt>tGt	p.S402C	DEPDC1B_ENST00000545085.1_Missense_Mutation_p.S375C|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.S402C|DEPDC1B_ENST00000509006.1_5'Flank	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	402				S -> P (in Ref. 3; BAA92089). {ECO:0000305}.	regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.S402C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CTCCTCTATAGAGGTCTGCAA	0.423																																							uc003jsh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1204-1206)TCT>TGT		DEP domain containing 1B isoform 1							82.0	81.0	81.0					5																	59899255		2203	4300	6503	SO:0001583	missense	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59899255G>C	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.1205C>G	5.37:g.59899255G>C	ENSP00000265036:p.Ser402Cys					DEPDC1B_uc011cqm.1_Missense_Mutation_p.S402C|DEPDC1B_uc011cqn.1_Missense_Mutation_p.S375C	p.S402C	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN			9	1278	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	402	S -> P (in Ref. 3; BAA92089).				A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	37	c.1205C>G	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888760	0.72524	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	D;D;D	0.88124	-2.34;-2.34;-2.34	5.03	5.03	0.67393	.	0.451949	0.26719	N	0.022852	D	0.86222	0.5881	L	0.43152	1.355	0.41131	D	0.985881	P;B	0.41366	0.747;0.396	P;B	0.48189	0.57;0.353	D	0.84545	0.0641	9	.	.	.	-18.8407	13.5068	0.61489	0.0:0.0:0.8441:0.1559	.	402;402	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	C	402;402;375	ENSP00000265036:S402C;ENSP00000389101:S402C;ENSP00000438320:S375C	.	S	-	2	0	DEPDC1B	59935012	0.988000	0.35896	1.000000	0.80357	0.994000	0.84299	3.080000	0.50112	2.612000	0.88384	0.591000	0.81541	TCT		0.423	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		3	86	0	0	0	0.009096	0	3	86				
SLC30A5	64924	broad.mit.edu	37	5	68396736	68396736	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:68396736C>T	ENST00000396591.3	+	2	796	c.186C>T	c.(184-186)ttC>ttT	p.F62F	SLC30A5_ENST00000502979.1_Intron|SLC30A5_ENST00000380860.4_Silent_p.F62F	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	62					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.F62F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTGTTCAGTTCATTTTTATAT	0.303																																							uc003jvh.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(184-186)TTC>TTT		solute carrier family 30 (zinc transporter),							63.0	64.0	64.0					5																	68396736		2203	4296	6499	SO:0001819	synonymous_variant	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68396736C>T	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.186C>T	5.37:g.68396736C>T						SLC30A5_uc003jvg.2_Silent_p.F62F|SLC30A5_uc011crc.1_Intron|SLC30A5_uc003jvi.2_5'Flank	p.F62F	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	2	387	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	62			Helical; (Potential).		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Silent	SNP	ENST00000396591.3	37	c.186C>T	CCDS3996.1																																																																																				0.303	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			4	70	0	0	0	0.009096	0	4	70				
MAP1B	4131	broad.mit.edu	37	5	71495673	71495673	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:71495673C>A	ENST00000296755.7	+	5	6789	c.6491C>A	c.(6490-6492)cCg>cAg	p.P2164Q		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2164					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.P2164Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GATGTTCCCCCGGAGACTGAA	0.577																																					Melanoma(17;367 822 11631 31730 47712)	Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(6490-6492)CCG>CAG		microtubule-associated protein 1B							100.0	90.0	93.0					5																	71495673		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71495673C>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6491C>A	5.37:g.71495673C>A	ENSP00000296755:p.Pro2164Gln					MAP1B_uc010iyw.1_Missense_Mutation_p.P2181Q|MAP1B_uc010iyx.1_Missense_Mutation_p.P2038Q|MAP1B_uc010iyy.1_Missense_Mutation_p.P2038Q	p.P2164Q	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	6732	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	2164					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.6491C>A	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.526708	0.64860	.	.	ENSG00000131711	ENST00000296755	T	0.11277	2.79	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000005	T	0.39358	0.1075	M	0.80982	2.52	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.975;0.999	T	0.14254	-1.0479	10	0.87932	D	0	-11.9441	20.0953	0.97838	0.0:1.0:0.0:0.0	.	2038;2164	A2BDK6;P46821	.;MAP1B_HUMAN	Q	2164	ENSP00000296755:P2164Q	ENSP00000296755:P2164Q	P	+	2	0	MAP1B	71531429	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	CCG		0.577	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		20	51	1	0	8.00594e-06	0.007413	9.78712e-06	20	51				
HMGCR	3156	broad.mit.edu	37	5	74646642	74646642	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:74646642A>T	ENST00000287936.4	+	9	965	c.809A>T	c.(808-810)cAc>cTc	p.H270L	HMGCR_ENST00000343975.5_Missense_Mutation_p.H270L|HMGCR_ENST00000511206.1_Missense_Mutation_p.H270L	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	270					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)	p.H270L(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	GTTCATGCTCACAGTCGCTGG	0.368																																							uc003kdp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(808-810)CAC>CTC		3-hydroxy-3-methylglutaryl-Coenzyme A reductase	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)						126.0	126.0	126.0					5																	74646642		2203	4300	6503	SO:0001583	missense	3156				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	g.chr5:74646642A>T		CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.809A>T	5.37:g.74646642A>T	ENSP00000287936:p.His270Leu					HMGCR_uc011cst.1_Missense_Mutation_p.H290L|HMGCR_uc003kdq.2_Missense_Mutation_p.H270L|HMGCR_uc010izn.1_Missense_Mutation_p.H71L	p.H270L	NM_000859	NP_000850	P04035	HMDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	9	965	+		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	270					B7Z3Y9|Q8N190	Missense_Mutation	SNP	ENST00000287936.4	37	c.809A>T	CCDS4027.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220486	0.79464	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.44881	0.95;0.95;0.91	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	L	0.59436	1.845	0.80722	D	1	D;D;P;D	0.89917	1.0;0.999;0.909;1.0	D;D;P;D	0.85130	0.948;0.997;0.699;0.948	T	0.52902	-0.8513	10	0.09843	T	0.71	-18.3427	16.3662	0.83325	1.0:0.0:0.0:0.0	.	270;270;270;270	B2R649;A8KA27;P04035-2;P04035	.;.;.;HMDH_HUMAN	L	270;201;270;270	ENSP00000426745:H270L;ENSP00000287936:H270L;ENSP00000340816:H270L	ENSP00000287936:H270L	H	+	2	0	HMGCR	74682398	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.237000	0.95368	2.274000	0.75844	0.533000	0.62120	CAC		0.368	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219877.2			24	59	0	0	0	0.004656	0	24	59				
SPZ1	84654	broad.mit.edu	37	5	79616044	79616044	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:79616044T>A	ENST00000296739.4	+	1	255	c.10T>A	c.(10-12)Tct>Act	p.S4T		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	4					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S4T(1)		endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GATGGCCAGCTCTGCTAAGTC	0.468																																							uc003kgn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(10-12)TCT>ACT		spermatogenic leucine zipper 1							184.0	184.0	184.0					5																	79616044		1963	4165	6128	SO:0001583	missense	84654				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:79616044T>A		CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.10T>A	5.37:g.79616044T>A	ENSP00000369611:p.Ser4Thr					uc011ctk.1_RNA	p.S4T	NM_032567	NP_115956	Q9BXG8	SPZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)	1	255	+		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)	4					B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	ENST00000296739.4	37	c.10T>A	CCDS43336.1	.	.	.	.	.	.	.	.	.	.	T	0.792	-0.758400	0.03019	.	.	ENSG00000164299	ENST00000511881;ENST00000296739	T;T	0.50548	0.74;1.37	4.19	-0.592	0.11671	.	1.168210	0.06457	N	0.728806	T	0.24084	0.0583	N	0.19112	0.55	0.09310	N	1	B	0.18013	0.025	B	0.14023	0.01	T	0.18209	-1.0344	10	0.02654	T	1	-2.3603	2.9552	0.05874	0.3299:0.3082:0.0:0.3619	.	4	Q9BXG8	SPZ1_HUMAN	T	4	ENSP00000426530:S4T;ENSP00000369611:S4T	ENSP00000369611:S4T	S	+	1	0	SPZ1	79651800	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.180000	0.16860	-0.113000	0.11958	0.379000	0.24179	TCT		0.468	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369322.1	NM_032567		99	217	0	0	0	0.00361	0	99	217				
ZCCHC9	84240	broad.mit.edu	37	5	80604800	80604800	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:80604800G>C	ENST00000254037.2	+	3	3726	c.571G>C	c.(571-573)Gaa>Caa	p.E191Q	ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000438268.2_Missense_Mutation_p.E191Q|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.E191Q|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.E191Q			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	191					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E191Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TGTTTGTGGAGAAATGGGGCA	0.373																																							uc003khj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(571-573)GAA>CAA		zinc finger, CCHC domain containing 9							117.0	106.0	110.0					5																	80604800		2203	4300	6503	SO:0001583	missense	84240						nucleic acid binding|zinc ion binding	g.chr5:80604800G>C	BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"""Zinc fingers, CCHC domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25424	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 41"""					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.571G>C	5.37:g.80604800G>C	ENSP00000254037:p.Glu191Gln					RNU5E_uc011cto.1_Intron|ZCCHC9_uc003khk.3_Missense_Mutation_p.E191Q|ZCCHC9_uc003khi.2_Missense_Mutation_p.E191Q	p.E191Q	NM_001131035	NP_001124507	Q8N567	ZCHC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)	4	704	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)	191			CCHC-type 3.		B2RAE7|Q9H027	Missense_Mutation	SNP	ENST00000254037.2	37	c.571G>C	CCDS4054.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.975903	0.74360	.	.	ENSG00000131732	ENST00000254037;ENST00000407610;ENST00000380199;ENST00000438268	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	6.02	6.02	0.97574	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (3);	0.090695	0.85682	D	0.000000	T	0.46927	0.1418	L	0.31526	0.94	0.52501	D	0.999959	D	0.52996	0.957	P	0.52646	0.705	T	0.16571	-1.0398	10	0.35671	T	0.21	-37.8907	20.1358	0.98028	0.0:0.0:1.0:0.0	.	191	Q8N567	ZCHC9_HUMAN	Q	191	ENSP00000254037:E191Q;ENSP00000385047:E191Q;ENSP00000369546:E191Q;ENSP00000412637:E191Q	ENSP00000254037:E191Q	E	+	1	0	ZCCHC9	80640556	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.881000	0.56152	2.865000	0.98341	0.655000	0.94253	GAA		0.373	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280		13	38	0	0	0	0.001855	0	13	38				
XRCC4	7518	broad.mit.edu	37	5	82554470	82554470	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:82554470G>T	ENST00000511817.1	+	7	947	c.867G>T	c.(865-867)caG>caT	p.Q289H	XRCC4_ENST00000282268.3_Missense_Mutation_p.Q289H|XRCC4_ENST00000396027.4_Missense_Mutation_p.Q289H|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000338635.6_Missense_Mutation_p.Q289H			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	289					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)	p.Q289H(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TGGCTCCTCAGGAGAATCAGC	0.348								Non-homologous end-joining																															uc003kib.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(865-867)CAG>CAT	NHEJ	X-ray repair cross complementing protein 4							92.0	90.0	91.0					5																	82554470		2203	4299	6502	SO:0001583	missense	7518				DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding	g.chr5:82554470G>T	AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"""X-ray repair, complementing defective, repair in Chinese hamster"", ""DNA repair protein XRCC4"""	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.867G>T	5.37:g.82554470G>T	ENSP00000421491:p.Gln289His					XRCC4_uc003kia.1_Missense_Mutation_p.Q289H|XRCC4_uc003kid.2_Missense_Mutation_p.Q289H|XRCC4_uc003kic.2_Missense_Mutation_p.Q289H|XRCC4_uc003kie.2_Missense_Mutation_p.Q289H|XRCC4_uc003kif.1_Missense_Mutation_p.Q289H|XRCC4_uc003kig.2_RNA	p.Q289H	NM_022406	NP_071801	Q13426	XRCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)	7	995	+		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)	289					A8K3X4|Q9BS72|Q9UP94	Missense_Mutation	SNP	ENST00000511817.1	37	c.867G>T	CCDS4059.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.397617	0.42512	.	.	ENSG00000152422	ENST00000282268;ENST00000338635;ENST00000396027;ENST00000511817;ENST00000514538	T;T;T;T	0.12774	2.65;2.65;2.65;2.65	4.99	3.13	0.36017	.	0.681821	0.14598	N	0.309788	T	0.24314	0.0589	M	0.62723	1.935	0.26683	N	0.971503	P;D;D	0.60575	0.928;0.988;0.985	P;P;P	0.58454	0.682;0.839;0.822	T	0.05683	-1.0870	10	0.45353	T	0.12	-26.627	5.4234	0.16413	0.0943:0.0:0.5444:0.3613	.	289;289;289	Q13426-2;Q13426;Q13426-3	.;XRCC4_HUMAN;.	H	289;289;289;289;14	ENSP00000282268:Q289H;ENSP00000342011:Q289H;ENSP00000379344:Q289H;ENSP00000421491:Q289H	ENSP00000282268:Q289H	Q	+	3	2	XRCC4	82590226	0.997000	0.39634	0.998000	0.56505	0.600000	0.36913	0.902000	0.28459	1.194000	0.43101	0.650000	0.86243	CAG		0.348	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550		23	47	1	0	2.89027e-11	0.002299	4.29223e-11	23	47				
EDIL3	10085	broad.mit.edu	37	5	83402632	83402632	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:83402632C>A	ENST00000296591.5	-	6	904	c.486G>T	c.(484-486)ctG>ctT	p.L162L	EDIL3_ENST00000380138.3_Silent_p.L152L	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	162	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.L162L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CTTCAATTCCCAGTGGGCCTG	0.383																																							uc003kio.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(484-486)CTG>CTT		EGF-like repeats and discoidin I-like							129.0	138.0	135.0					5																	83402632		2203	4299	6502	SO:0001819	synonymous_variant	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83402632C>A	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.486G>T	5.37:g.83402632C>A						EDIL3_uc003kip.1_Silent_p.L152L	p.L162L	NM_005711	NP_005702	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	6	905	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	162			F5/8 type C 1.		B2R763|O43855|Q5D094|Q8N610	Silent	SNP	ENST00000296591.5	37	c.486G>T	CCDS4062.1																																																																																				0.383	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		48	110	1	0	2.81731e-22	0.00361	4.8616e-22	48	110				
CXXC5	51523	broad.mit.edu	37	5	139060297	139060297	+	Silent	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:139060297T>C	ENST00000302517.3	+	2	903	c.189T>C	c.(187-189)ggT>ggC	p.G63G	CXXC5_ENST00000511048.1_Silent_p.G63G	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	63					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.G63G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAGCGGTATCATCAGTG	0.627																																							uc010jfg.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(187-189)GGT>GGC		CXXC finger 5							53.0	72.0	66.0					5																	139060297		2139	4236	6375	SO:0001819	synonymous_variant	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060297T>C	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.189T>C	5.37:g.139060297T>C						CXXC5_uc003let.2_Silent_p.G63G	p.G63G	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	479	+			63					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Silent	SNP	ENST00000302517.3	37	c.189T>C	CCDS43370.1																																																																																				0.627	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		10	44	0	0	0	0.010729	0	10	44				
PCDHA10	56139	broad.mit.edu	37	5	140237074	140237074	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:140237074G>T	ENST00000307360.5	+	1	1441	c.1441G>T	c.(1441-1443)Gcg>Tcg	p.A481S	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A481S|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	481	Cadherin 5. {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)	calcium ion binding (GO:0005509)	p.A481S(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGTGGGACGCGGACGCGCA	0.662																																							uc003lhx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)|breast(1)	5						c.(1441-1443)GCG>TCG		protocadherin alpha 10 isoform 1 precursor							88.0	87.0	87.0					5																	140237074		2196	4273	6469	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237074G>T	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1441G>T	5.37:g.140237074G>T	ENSP00000304234:p.Ala481Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Missense_Mutation_p.A481S|PCDHA10_uc011dad.1_Missense_Mutation_p.A481S	p.A481S	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1441	+			481			Cadherin 5.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1441G>T	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.727573	0.30593	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.61859	4.64;0.07	3.74	2.77	0.32553	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.47746	0.1462	L	0.28556	0.865	0.26837	N	0.968469	P;B;B	0.35872	0.525;0.211;0.375	B;B;B	0.40659	0.336;0.235;0.218	T	0.44112	-0.9349	9	0.56958	D	0.05	.	8.7261	0.34469	0.0:0.241:0.6273:0.1317	.	481;481;481	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	S	481	ENSP00000421030:A481S;ENSP00000304234:A481S	ENSP00000304234:A481S	A	+	1	0	PCDHA10	140217258	0.000000	0.05858	1.000000	0.80357	0.634000	0.38068	-0.444000	0.06854	2.077000	0.62373	0.456000	0.33151	GCG		0.662	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		38	64	1	0	6.97489e-18	0.004878	1.1707e-17	38	64				
PCDHA11	56138	broad.mit.edu	37	5	140250183	140250183	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:140250183G>T	ENST00000398640.2	+	1	1495	c.1495G>T	c.(1495-1497)Ggc>Tgc	p.G499C	PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	499	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)	p.G499C(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCGGTTGGGCGACCGCGC	0.672																																							uc003lia.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1495-1497)GGC>TGC		protocadherin alpha 11 isoform 1 precursor							64.0	70.0	68.0					5																	140250183		2203	4298	6501	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140250183G>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1495G>T	5.37:g.140250183G>T	ENSP00000381636:p.Gly499Cys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.G499C	p.G499C	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2353	+			499			Extracellular (Potential).|Cadherin 5.		B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1495G>T	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.026107	0.54683	.	.	ENSG00000249158	ENST00000398640	T	0.64260	-0.09	5.33	4.4	0.53042	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.81240	0.4781	M	0.90019	3.08	0.24276	N	0.995226	D;D	0.89917	0.999;1.0	D;D	0.85130	0.944;0.997	T	0.71593	-0.4546	9	0.87932	D	0	.	10.2394	0.43303	0.0:0.1453:0.7051:0.1496	.	499;499	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	C	499	ENSP00000381636:G499C	ENSP00000381636:G499C	G	+	1	0	PCDHA11	140230367	0.000000	0.05858	1.000000	0.80357	0.893000	0.52053	0.240000	0.18042	2.501000	0.84356	0.556000	0.70494	GGC		0.672	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		37	83	1	0	1.30998e-17	0.005524	2.1917e-17	37	83				
PCDHA12	56137	broad.mit.edu	37	5	140256515	140256515	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:140256515G>C	ENST00000398631.2	+	1	1458	c.1458G>C	c.(1456-1458)aaG>aaC	p.K486N	PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	486	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K486N(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCAGAAGAACGCGCTGG	0.667																																					Pancreas(113;759 1672 13322 24104 50104)	Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1456-1458)AAG>AAC		protocadherin alpha 12 isoform 1 precursor							81.0	84.0	83.0					5																	140256515		2203	4300	6503	SO:0001583	missense	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140256515G>C	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1458G>C	5.37:g.140256515G>C	ENSP00000381628:p.Lys486Asn					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.K486N	p.K486N	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1585	+			486			Cadherin 5.|Extracellular (Potential).		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1458G>C	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.139871	0.56936	.	.	ENSG00000251664	ENST00000398631	T	0.51574	0.7	5.22	4.34	0.51931	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.41971	0.1182	N	0.04805	-0.155	0.27537	N	0.950925	B;B	0.31413	0.023;0.322	B;P	0.48654	0.072;0.585	T	0.49995	-0.8879	9	0.66056	D	0.02	.	11.1112	0.48235	0.0718:0.1272:0.801:0.0	.	486;486	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	N	486	ENSP00000381628:K486N	ENSP00000381628:K486N	K	+	3	2	PCDHA12	140236699	0.007000	0.16637	1.000000	0.80357	0.976000	0.68499	-0.152000	0.10159	2.452000	0.82932	0.650000	0.86243	AAG		0.667	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		4	78	0	0	0	0.004482	0	4	78				
PCDHB10	56126	broad.mit.edu	37	5	140574115	140574115	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:140574115G>A	ENST00000239446.4	+	1	2174	c.1990G>A	c.(1990-1992)Gac>Aac	p.D664N		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D664N(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCTGGTGGACGGCTTCTC	0.701																																							uc003lix.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1990-1992)GAC>AAC		protocadherin beta 10 precursor							24.0	28.0	27.0					5																	140574115		2095	3949	6044	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574115G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1990G>A	5.37:g.140574115G>A	ENSP00000239446:p.Asp664Asn						p.D664N	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2164	+			664			Cadherin 6.|Extracellular (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1990G>A	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	14.35	2.509694	0.44660	.	.	ENSG00000120324	ENST00000239446	D	0.84298	-1.83	3.03	3.03	0.35002	Cadherin (3);Cadherin-like (1);	.	.	.	.	D	0.91399	0.7286	M	0.79693	2.465	0.32176	N	0.581027	D	0.76494	0.999	D	0.66602	0.945	D	0.92010	0.5617	9	0.56958	D	0.05	.	14.1979	0.65684	0.0:0.0:1.0:0.0	.	664	Q9UN67	PCDBA_HUMAN	N	664	ENSP00000239446:D664N	ENSP00000239446:D664N	D	+	1	0	PCDHB10	140554299	0.964000	0.33143	1.000000	0.80357	0.259000	0.26198	2.042000	0.41222	1.704000	0.51252	0.298000	0.19748	GAC		0.701	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		28	31	0	0	0	0.005443	0	28	31				
PCDHB10	56126	broad.mit.edu	37	5	140574131	140574131	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:140574131C>T	ENST00000239446.4	+	1	2190	c.2006C>T	c.(2005-2007)cCc>cTc	p.P669L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	669	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P669L(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCCCAGCCCTACCTGCCT	0.692																																							uc003lix.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2005-2007)CCC>CTC		protocadherin beta 10 precursor							23.0	30.0	27.0					5																	140574131		2011	3811	5822	SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140574131C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.2006C>T	5.37:g.140574131C>T	ENSP00000239446:p.Pro669Leu						p.P669L	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2180	+			669			Cadherin 6.|Extracellular (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.2006C>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	12.46	1.945164	0.34283	.	.	ENSG00000120324	ENST00000239446	T	0.50277	0.75	3.03	3.03	0.35002	Cadherin (2);	.	.	.	.	T	0.57975	0.2090	L	0.50919	1.6	0.45607	D	0.998546	D	0.89917	1.0	D	0.80764	0.994	T	0.57312	-0.7833	9	0.49607	T	0.09	.	9.159	0.37009	0.217:0.783:0.0:0.0	.	669	Q9UN67	PCDBA_HUMAN	L	669	ENSP00000239446:P669L	ENSP00000239446:P669L	P	+	2	0	PCDHB10	140554315	0.484000	0.25964	1.000000	0.80357	0.439000	0.31926	1.659000	0.37387	1.704000	0.51252	0.298000	0.19748	CCC		0.692	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		33	40	0	0	0	0.012213	0	33	40				
PCDHB11	56125	broad.mit.edu	37	5	140579376	140579376	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:140579376A>T	ENST00000354757.3	+	1	29	c.29A>T	c.(28-30)cAg>cTg	p.Q10L	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	10					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.Q10L(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCACTCAGCAGATAAGGCAA	0.507																																							uc003liy.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(28-30)CAG>CTG		protocadherin beta 11 precursor							95.0	90.0	91.0					5																	140579376		2203	4300	6503	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140579376A>T	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.29A>T	5.37:g.140579376A>T	ENSP00000346802:p.Gln10Leu					PCDHB11_uc011daj.1_5'UTR	p.Q10L	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	29	+			10					B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.29A>T	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	A	9.619	1.133323	0.21041	.	.	ENSG00000197479	ENST00000354757	T	0.48201	0.82	2.14	-3.9	0.04181	.	.	.	.	.	T	0.22551	0.0544	N	0.11106	0.095	0.20074	N	0.999936	B	0.09022	0.002	B	0.09377	0.004	T	0.11299	-1.0593	9	0.40728	T	0.16	.	5.0069	0.14293	0.6514:0.0:0.1884:0.1602	.	10	Q9Y5F2	PCDBB_HUMAN	L	10	ENSP00000346802:Q10L	ENSP00000346802:Q10L	Q	+	2	0	PCDHB11	140559560	0.001000	0.12720	0.002000	0.10522	0.106000	0.19336	-0.157000	0.10085	-1.175000	0.02751	-0.467000	0.05162	CAG		0.507	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		21	60	0	0	0	0.008871	0	21	60				
PCDHGB3	56102	broad.mit.edu	37	5	140750198	140750198	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:140750198C>A	ENST00000576222.1	+	1	368	c.237C>A	c.(235-237)ccC>ccA	p.P79P	PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	79	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)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTGAGCCCCGAAAATGGGA	0.498																																							uc003ljw.1		NA																	0					0						c.(235-237)CCC>CCA		protocadherin gamma subfamily B, 3 isoform 1							173.0	176.0	175.0					5																	140750198		1852	4097	5949	SO:0001819	synonymous_variant	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140750198C>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.237C>A	5.37:g.140750198C>A						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_uc011dat.1_Silent_p.P79P	p.P79P	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	237	+			79			Extracellular (Potential).|Cadherin 1.		A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.237C>A	CCDS58980.1																																																																																				0.498	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		81	190	1	0	1.3466e-33	0.00361	2.42388e-33	81	190				
FBXO38	81545	broad.mit.edu	37	5	147807061	147807061	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:147807061G>T	ENST00000340253.5	+	15	2372	c.2204G>T	c.(2203-2205)gGc>gTc	p.G735V	FBXO38_ENST00000513826.1_Intron|CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000296701.6_Intron|FBXO38_ENST00000394370.3_Missense_Mutation_p.G735V			Q6PIJ6	FBX38_HUMAN	F-box protein 38	735					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G735V(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGCGGCGGCTCTTCCGAG	0.612																																							uc003lpf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(2203-2205)GGC>GTC		F-box protein 38 isoform b							45.0	39.0	41.0					5																	147807061		2202	4300	6502	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147807061G>T	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2204G>T	5.37:g.147807061G>T	ENSP00000342023:p.Gly735Val					FBXO38_uc003lpg.1_Missense_Mutation_p.G735V|FBXO38_uc003lph.2_Intron	p.G735V	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		15	2324	+			735					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.2204G>T		.	.	.	.	.	.	.	.	.	.	G	12.32	1.904036	0.33628	.	.	ENSG00000145868	ENST00000340253;ENST00000394370	T;T	0.32515	1.45;1.46	5.55	4.61	0.57282	.	0.504726	0.22809	N	0.055380	T	0.13970	0.0338	N	0.08118	0	0.80722	D	1	B;P	0.36837	0.144;0.571	B;B	0.33196	0.056;0.159	T	0.02471	-1.1154	10	0.59425	D	0.04	-9.7711	7.0273	0.24946	0.1446:0.0:0.8554:0.0	.	735;735	Q6PIJ6-2;Q6PIJ6	.;FBX38_HUMAN	V	735	ENSP00000342023:G735V;ENSP00000377895:G735V	ENSP00000342023:G735V	G	+	2	0	FBXO38	147787254	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.939000	0.48995	2.894000	0.99253	0.655000	0.94253	GGC		0.612	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		14	26	1	0	0.000308642	0.003163	0.00034279	14	26				
AFAP1L1	134265	broad.mit.edu	37	5	148709278	148709278	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:148709278G>T	ENST00000296721.4	+	16	1958	c.1860G>T	c.(1858-1860)cgG>cgT	p.R620R	AFAP1L1_ENST00000515000.1_Silent_p.R620R	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	620						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R620R(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATGCCCGGAGGTACTTGG	0.512																																							uc003lqh.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)|pancreas(1)	2						c.(1858-1860)CGG>CGT		actin filament associated protein 1-like 1							53.0	56.0	55.0					5																	148709278		2203	4300	6503	SO:0001819	synonymous_variant	134265						protein binding	g.chr5:148709278G>T	AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1860G>T	5.37:g.148709278G>T						AFAP1L1_uc010jgy.2_Silent_p.R620R|AFAP1L1_uc003lqi.1_Silent_p.R235R	p.R620R	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	1991	+			620			Potential.		Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Silent	SNP	ENST00000296721.4	37	c.1860G>T	CCDS34274.1																																																																																				0.512	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406		9	36	1	0	1.76689e-08	0.006214	2.40187e-08	9	36				
GABRG2	2566	broad.mit.edu	37	5	161530945	161530945	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:161530945G>T	ENST00000361925.4	+	6	902	c.682G>T	c.(682-684)Gaa>Taa	p.E228*	GABRG2_ENST00000414552.2_Nonsense_Mutation_p.E268*|GABRG2_ENST00000356592.3_Nonsense_Mutation_p.E228*|GABRG2_ENST00000393933.4_Nonsense_Mutation_p.E133*			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	228					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.E228*(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAGTTCTGTTGAAGTGGGCGA	0.398																																							uc003lyz.3		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(1)	5						c.(682-684)GAA>TAA		gamma-aminobutyric acid A receptor, gamma 2							112.0	107.0	108.0					5																	161530945		2203	4300	6503	SO:0001587	stop_gained	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161530945G>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.682G>T	5.37:g.161530945G>T	ENSP00000354651:p.Glu228*					GABRG2_uc010jjc.2_Nonsense_Mutation_p.E268*|GABRG2_uc003lyy.3_Nonsense_Mutation_p.E228*|GABRG2_uc011dej.1_Nonsense_Mutation_p.E133*	p.E228*	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	6	1040	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	228			Extracellular (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Nonsense_Mutation	SNP	ENST00000361925.4	37	c.682G>T	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	G	41	9.161112	0.99085	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	.	.	.	5.56	5.56	0.83823	.	0.043514	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.5165	0.95167	0.0:0.0:1.0:0.0	.	.	.	.	X	228;268;228;133;133	.	ENSP00000349000:E228X	E	+	1	0	GABRG2	161463523	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.890000	0.87313	2.615000	0.88500	0.655000	0.94253	GAA		0.398	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			13	41	1	0	5.50884e-06	0.001368	6.74235e-06	13	41				
DOCK2	1794	broad.mit.edu	37	5	169111246	169111246	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:169111246C>A	ENST00000256935.8	+	8	733	c.653C>A	c.(652-654)tCc>tAc	p.S218Y		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	218					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.S218Y(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTCCTCATCCCCCACCCAT	0.468																																							uc003maf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(652-654)TCC>TAC		dedicator of cytokinesis 2							190.0	178.0	182.0					5																	169111246		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169111246C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.653C>A	5.37:g.169111246C>A	ENSP00000256935:p.Ser218Tyr					DOCK2_uc011der.1_RNA	p.S218Y	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	733	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	218					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.653C>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581369	0.65992	.	.	ENSG00000134516	ENST00000256935	T	0.51817	0.69	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	L	0.59436	1.845	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	T	0.65957	-0.6042	10	0.56958	D	0.05	.	19.2567	0.93948	0.0:1.0:0.0:0.0	.	218	Q92608	DOCK2_HUMAN	Y	218	ENSP00000256935:S218Y	ENSP00000256935:S218Y	S	+	2	0	DOCK2	169043824	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.544000	0.85801	0.655000	0.94253	TCC		0.468	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		50	102	1	0	3.19069e-20	0.00361	5.47874e-20	50	102				
DOCK2	1794	broad.mit.edu	37	5	169116294	169116294	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:169116294C>G	ENST00000256935.8	+	9	880	c.800C>G	c.(799-801)cCt>cGt	p.P267R		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	267					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.P267R(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGGGCTTCCCTAAGGAGATT	0.527																																							uc003maf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(799-801)CCT>CGT		dedicator of cytokinesis 2							134.0	116.0	122.0					5																	169116294		2203	4300	6503	SO:0001583	missense	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169116294C>G	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.800C>G	5.37:g.169116294C>G	ENSP00000256935:p.Pro267Arg					DOCK2_uc011der.1_RNA	p.P267R	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	880	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	267					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.800C>G	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486684	0.84854	.	.	ENSG00000134516	ENST00000256935	T	0.17054	2.3	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.34890	0.0913	M	0.87269	2.87	0.80722	D	1	D	0.54397	0.966	P	0.50440	0.641	T	0.14559	-1.0468	10	0.23302	T	0.38	.	14.5539	0.68086	0.0:0.9307:0.0:0.0693	.	267	Q92608	DOCK2_HUMAN	R	267	ENSP00000256935:P267R	ENSP00000256935:P267R	P	+	2	0	DOCK2	169048872	1.000000	0.71417	0.969000	0.41365	0.991000	0.79684	6.014000	0.70784	2.832000	0.97577	0.655000	0.94253	CCT		0.527	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		12	39	0	0	0	0.001368	0	12	39				
STK10	6793	broad.mit.edu	37	5	171488231	171488231	+	Silent	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:171488231C>G	ENST00000176763.5	-	14	2467	c.2124G>C	c.(2122-2124)ctG>ctC	p.L708L		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	708					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.L708L(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTTCATGGCCAGCTCCAGGT	0.607																																							uc003mbo.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(2122-2124)CTG>CTC		serine/threonine kinase 10							148.0	133.0	138.0					5																	171488231		2203	4300	6503	SO:0001819	synonymous_variant	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171488231C>G	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2124G>C	5.37:g.171488231C>G							p.L708L	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		14	2424	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	708			Potential.		A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Silent	SNP	ENST00000176763.5	37	c.2124G>C	CCDS34290.1																																																																																				0.607	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		40	104	0	0	0	0.011902	0	40	104				
DRD1	1812	broad.mit.edu	37	5	174870079	174870079	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:174870079G>T	ENST00000393752.2	-	2	1016	c.24C>A	c.(22-24)gcC>gcA	p.A8A		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	8					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.A8A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCCCGTCCATGGCAGAGGTGT	0.557																																							uc003mcz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(22-24)GCC>GCA		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						88.0	95.0	93.0					5																	174870079		2203	4300	6503	SO:0001819	synonymous_variant	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174870079G>T	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.24C>A	5.37:g.174870079G>T							p.A8A	NM_000794	NP_000785	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	969	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	8			Extracellular (Potential).		B2RA44|Q4QRJ0	Silent	SNP	ENST00000393752.2	37	c.24C>A	CCDS4393.1																																																																																				0.557	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		31	67	1	0	3.67414e-24	0.012213	6.39301e-24	31	67				
ZNF354B	117608	broad.mit.edu	37	5	178293996	178293996	+	Silent	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:178293996A>T	ENST00000322434.3	+	4	406	c.180A>T	c.(178-180)ccA>ccT	p.P60P		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P60P(1)		breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTACCAAACCAAAAGTCATCT	0.463																																							uc003mjl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(178-180)CCA>CCT		zinc finger protein 354B							121.0	112.0	115.0					5																	178293996		2203	4300	6503	SO:0001819	synonymous_variant	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178293996A>T	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.180A>T	5.37:g.178293996A>T						ZNF354B_uc003mjm.2_Silent_p.P60P	p.P60P	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	406	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	60			KRAB.		A8K0V2|Q5U5Z4	Silent	SNP	ENST00000322434.3	37	c.180A>T	CCDS4439.1																																																																																				0.463	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		9	102	0	0	0	0.006214	0	9	102				
MAML1	9794	broad.mit.edu	37	5	179201511	179201511	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:179201511C>T	ENST00000292599.3	+	5	2947	c.2684C>T	c.(2683-2685)tCa>tTa	p.S895L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.S895L(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCATGAGCTCAGCAGCTGCC	0.647																																							uc003mkm.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)	6						c.(2683-2685)TCA>TTA		mastermind-like 1							26.0	29.0	28.0					5																	179201511		2203	4299	6502	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179201511C>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2684C>T	5.37:g.179201511C>T	ENSP00000292599:p.Ser895Leu					MAML1_uc003mkn.1_Intron	p.S895L	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	2947	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	895						Missense_Mutation	SNP	ENST00000292599.3	37	c.2684C>T	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200113	0.58126	.	.	ENSG00000161021	ENST00000292599	T	0.23552	1.9	4.55	4.55	0.56014	.	0.623994	0.14055	N	0.344474	T	0.21921	0.0528	L	0.47716	1.5	0.35034	D	0.75908	P	0.41475	0.751	B	0.33846	0.171	T	0.30357	-0.9981	10	0.25751	T	0.34	-10.2454	14.8323	0.70156	0.0:1.0:0.0:0.0	.	895	Q92585	MAML1_HUMAN	L	895	ENSP00000292599:S895L	ENSP00000292599:S895L	S	+	2	0	MAML1	179134117	0.087000	0.21565	0.813000	0.32504	0.894000	0.52154	1.849000	0.39318	2.362000	0.80069	0.561000	0.74099	TCA		0.647	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		4	39	0	0	0	0.009096	0	4	39				
FLT4	2324	broad.mit.edu	37	5	180056964	180056964	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:180056964G>T	ENST00000261937.6	-	5	733	c.655C>A	c.(655-657)Ccc>Acc	p.P219T	FLT4_ENST00000393347.3_Missense_Mutation_p.P219T|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.P219T	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	219	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.P219T(2)|p.P29T(1)		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)	ACCAGGAAGGGGTTGGAAAGG	0.637																																					Colon(97;1075 1466 27033 27547 35871)	Colon(97;1075 1466 27033 27547 35871)	uc003mma.3		NA																	3	Substitution - Missense(3)		lung(3)	lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15						c.(655-657)CCC>ACC		fms-related tyrosine kinase 4 isoform 2	Sorafenib(DB00398)|Sunitinib(DB01268)						80.0	69.0	73.0					5																	180056964		2198	4299	6497	SO:0001583	missense	2324	Congenital_Hereditary_Lymphedema			positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180056964G>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.655C>A	5.37:g.180056964G>T	ENSP00000261937:p.Pro219Thr					FLT4_uc003mlz.3_Missense_Mutation_p.P219T|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Missense_Mutation_p.P219T|FLT4_uc011dgz.1_Missense_Mutation_p.P219T|FLT4_uc011dha.1_Silent_p.T202T	p.P219T	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	734	-	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)	219			Ig-like C2-type 3.|Extracellular (Potential).		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.655C>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	9.049	0.991603	0.18966	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.04234	3.67;3.67;3.67	5.06	3.95	0.45737	Immunoglobulin-like (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03095	0.0091	N	0.19112	0.55	0.22961	N	0.9985	B;B;B;B	0.23128	0.048;0.08;0.009;0.001	B;B;B;B	0.19946	0.02;0.027;0.004;0.004	T	0.42865	-0.9426	9	0.21540	T	0.41	.	4.1747	0.10346	0.306:0.0:0.694:0.0	.	219;219;219;219	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	T	219;219;219;29	ENSP00000261937:P219T;ENSP00000377016:P219T;ENSP00000426057:P219T	ENSP00000261937:P219T	P	-	1	0	FLT4	179989570	0.763000	0.28462	0.992000	0.48379	0.989000	0.77384	1.237000	0.32695	2.517000	0.84864	0.561000	0.74099	CCC		0.637	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			8	33	1	0	1.06961e-07	0.00308	1.42071e-07	8	33				
BTNL3	10917	broad.mit.edu	37	5	180419860	180419860	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:180419860G>A	ENST00000342868.6	+	2	281	c.97G>A	c.(97-99)Ggg>Agg	p.G33R		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	33						integral component of membrane (GO:0016021)		p.G33R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGCCTTGGTGGGGGAGGACGC	0.537																																							uc003mmr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(97-99)GGG>AGG		butyrophilin-like 3 precursor							89.0	79.0	83.0					5																	180419860		2105	3928	6033	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180419860G>A	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.97G>A	5.37:g.180419860G>A	ENSP00000341787:p.Gly33Arg						p.G33R	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		2	225	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	33			Extracellular (Potential).		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.97G>A	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.367531	0.42003	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	D	0.81499	-1.5	2.83	1.89	0.25635	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89615	0.6766	M	0.88640	2.97	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78876	-0.2031	9	0.72032	D	0.01	.	9.0231	0.36213	0.0:0.0:0.777:0.223	.	33	Q6UXE8	BTNL3_HUMAN	R	33	ENSP00000341787:G33R	ENSP00000341787:G33R	G	+	1	0	BTNL3	180352466	0.780000	0.28664	0.002000	0.10522	0.002000	0.02628	1.229000	0.32600	0.437000	0.26423	0.502000	0.49764	GGG		0.537	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		30	29	0	0	0	0.002836	0	30	29				
CDYL	9425	broad.mit.edu	37	6	4735052	4735052	+	Missense_Mutation	SNP	G	G	C	rs375915779		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:4735052G>C	ENST00000328908.5	+	3	291	c.160G>C	c.(160-162)Ggg>Cgg	p.G54R				Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	54					regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)	p.G54R(1)		breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		TGAGCAAAGCGGGGCACAGCA	0.557																																							uc003mwi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(160-162)GGG>CGG		chromodomain protein, Y chromosome-like isoform							83.0	81.0	81.0					6																	4735052		2203	4300	6503	SO:0001583	missense	9425				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity	g.chr6:4735052G>C	AF081258	CCDS4491.2, CCDS47364.1	6p25.1	2010-05-04	2003-09-12		ENSG00000153046	ENSG00000153046			1811	protein-coding gene	gene with protein product	"""CDY-like, autosomal"", ""testis-specific chromodomain Y-like protein"""	603778	"""chromodomain protein, Y chromosome-like"""			10192397	Standard	NM_001143970		Approved	DKFZP586C1622, CDYL1	uc003mwj.3	Q9Y232	OTTHUMG00000014170	ENST00000328908.5:c.160G>C	6.37:g.4735052G>C	ENSP00000330512:p.Gly54Arg						p.G54R	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.182)	3	291	+	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)	54					A8K6D6|B4DLG4|Q0VDG7|Q32NC5|Q5VX99|Q6P7T5|Q9BWZ2|Q9Y424	Missense_Mutation	SNP	ENST00000328908.5	37	c.160G>C		.	.	.	.	.	.	.	.	.	.	G	2.295	-0.361635	0.05103	.	.	ENSG00000153046	ENST00000328908	T	0.48836	0.8	1.2	-0.791	0.10929	.	.	.	.	.	T	0.12433	0.0302	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.26985	-1.0087	8	0.46703	T	0.11	.	3.9115	0.09205	0.4931:0.0:0.5069:0.0	.	54	Q9Y232	CDYL1_HUMAN	R	54	ENSP00000330512:G54R	ENSP00000330512:G54R	G	+	1	0	CDYL	4680051	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.233000	0.09041	-0.319000	0.08652	-0.229000	0.12294	GGG		0.557	CDYL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000039736.1	NM_004824		14	49	0	0	0	0.00333	0	14	49				
SLC17A2	10246	broad.mit.edu	37	6	25921630	25921630	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:25921630T>C	ENST00000265425.3	-	3	271	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	SLC17A2_ENST00000360488.3_Missense_Mutation_p.Y84C|SLC17A2_ENST00000377850.3_Missense_Mutation_p.Y84C			O00624	NPT3_HUMAN	solute carrier family 17, member 2	84					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.Y84C(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GCTCCATTGATACACAGAGGC	0.413																																							uc011dkb.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(250-252)TAT>TGT		SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;							65.0	65.0	65.0					6																	25921630		2203	4300	6503	SO:0001583	missense	10246				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25921630T>C	U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.251A>G	6.37:g.25921630T>C	ENSP00000265425:p.Tyr84Cys					SLC17A2_uc011dkc.1_Missense_Mutation_p.Y84C|SLC17A2_uc003nfl.2_Missense_Mutation_p.Y84C	p.Y84C			O00624	NPT3_HUMAN			3	334	-			84					A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	ENST00000265425.3	37	c.251A>G		.	.	.	.	.	.	.	.	.	.	T	19.79	3.892165	0.72524	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.64438	-0.1;-0.1;-0.1	5.03	5.03	0.67393	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.51477	D	0.000087	T	0.78496	0.4292	H	0.94734	3.575	0.48185	D	0.999605	D;D;P	0.58268	0.982;0.982;0.926	P;P;P	0.62382	0.901;0.901;0.848	D	0.84223	0.0462	10	0.87932	D	0	.	11.3385	0.49518	0.0:0.0:0.0:1.0	.	84;84;84	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	C	84	ENSP00000353677:Y84C;ENSP00000367081:Y84C;ENSP00000265425:Y84C	ENSP00000265425:Y84C	Y	-	2	0	SLC17A2	26029609	1.000000	0.71417	0.937000	0.37676	0.880000	0.50808	5.879000	0.69690	2.248000	0.74166	0.528000	0.53228	TAT		0.413	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000040075.1			6	38	0	0	0	0.00308	0	6	38				
HIST1H1D	3007	broad.mit.edu	37	6	26234851	26234851	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:26234851C>G	ENST00000244534.5	-	1	365	c.311G>C	c.(310-312)gGc>gCc	p.G104A		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	104	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.G104A(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTTGAAGGAGCCAGAAGCACC	0.547																																							uc003nhd.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(310-312)GGC>GCC		histone cluster 1, H1d							88.0	95.0	93.0					6																	26234851		2203	4300	6503	SO:0001583	missense	3007				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26234851C>G	M60747	CCDS4597.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000124575	ENSG00000124575		"""Histones / Replication-dependent"""	4717	protein-coding gene	gene with protein product		142210	"""H1 histone family, member 3"", ""histone 1, H1d"""	H1F3		1916825, 12408966	Standard	NM_005320		Approved	H1.3, H1d, H1s-2	uc003nhd.3	P16402	OTTHUMG00000014432	ENST00000244534.5:c.311G>C	6.37:g.26234851C>G	ENSP00000244534:p.Gly104Ala						p.G104A	NM_005320	NP_005311	P16402	H13_HUMAN			1	366	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	104			H15.		B2R751|Q2M2I2	Missense_Mutation	SNP	ENST00000244534.5	37	c.311G>C	CCDS4597.1	.	.	.	.	.	.	.	.	.	.	.	17.91	3.503450	0.64298	.	.	ENSG00000124575	ENST00000244534	T	0.58060	0.36	5.23	5.23	0.72850	Histone H1/H5 (2);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.75295	0.3830	M	0.91459	3.21	0.80722	D	1	D	0.60575	0.988	D	0.70227	0.968	T	0.81141	-0.1068	10	0.87932	D	0	-24.4477	18.1633	0.89717	0.0:1.0:0.0:0.0	.	104	P16402	H13_HUMAN	A	104	ENSP00000244534:G104A	ENSP00000244534:G104A	G	-	2	0	HIST1H1D	26342830	1.000000	0.71417	0.988000	0.46212	0.033000	0.12548	7.790000	0.85794	2.623000	0.88846	0.655000	0.94253	GGC		0.547	HIST1H1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040095.1	NM_005320		4	178	0	0	0	0.000602	0	4	178				
ZBED9	114821	broad.mit.edu	37	6	28539729	28539729	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:28539729C>G	ENST00000452236.2	-	4	4554	c.3937G>C	c.(3937-3939)Gac>Cac	p.D1313H		NM_052923.1	NP_443155.1												p.D1313H(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gttaatttgtctaatctaggt	0.313																																							uc003nlo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3937-3939)GAC>CAC		SCAN domain containing 3							113.0	108.0	109.0					6																	28539729		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28539729C>G																												ENST00000452236.2:c.3937G>C	6.37:g.28539729C>G	ENSP00000395259:p.Asp1313His						p.D1313H	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			4	4555	-			1313						Missense_Mutation	SNP	ENST00000452236.2	37	c.3937G>C	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727237	0.48833	.	.	ENSG00000232040	ENST00000452236	T	0.01548	4.78	2.73	2.73	0.32206	.	0.350547	0.19834	N	0.105033	T	0.03915	0.0110	M	0.75615	2.305	0.29073	N	0.883172	D	0.76494	0.999	D	0.79784	0.993	T	0.08743	-1.0707	10	0.87932	D	0	.	9.1528	0.36973	0.0:1.0:0.0:0.0	.	1313	Q6R2W3	SCND3_HUMAN	H	1313	ENSP00000395259:D1313H	ENSP00000395259:D1313H	D	-	1	0	SCAND3	28647708	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.851000	0.39338	1.828000	0.53243	0.655000	0.94253	GAC		0.313	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			18	70	0	0	0	0.007413	0	18	70				
TRIM27	5987	broad.mit.edu	37	6	28872184	28872184	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:28872184G>C	ENST00000377199.3	-	8	1561	c.1205C>G	c.(1204-1206)cCc>cGc	p.P402R	TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	402	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P402R(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCCATTCTGGGGGGCTGAGGT	0.542			T	RET	papillary thyroid																																		uc003nlr.2		NA		Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1204-1206)CCC>CGC		ret finger protein							78.0	78.0	78.0					6																	28872184		1511	2709	4220	SO:0001583	missense	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28872184G>C	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.1205C>G	6.37:g.28872184G>C	ENSP00000366404:p.Pro402Arg					TRIM27_uc003nls.2_Intron|TRIM27_uc003nlt.1_3'UTR	p.P402R	NM_006510	NP_006501	P14373	TRI27_HUMAN			8	1564	-			402			B30.2/SPRY.		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	ENST00000377199.3	37	c.1205C>G	CCDS4654.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241936	0.79912	.	.	ENSG00000204713	ENST00000377199	T	0.70749	-0.51	4.89	4.89	0.63831	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.53938	D	0.000056	D	0.82370	0.5022	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84553	0.0645	10	0.87932	D	0	.	16.3454	0.83126	0.0:0.0:1.0:0.0	.	402	P14373	TRI27_HUMAN	R	402	ENSP00000366404:P402R	ENSP00000366404:P402R	P	-	2	0	TRIM27	28980163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.564000	0.73969	2.638000	0.89438	0.650000	0.86243	CCC		0.542	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950		16	75	0	0	0	0.003163	0	16	75				
OR10C1	442194	broad.mit.edu	37	6	29408120	29408120	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:29408120G>T	ENST00000444197.2	+	1	1038	c.328G>T	c.(328-330)Gag>Tag	p.E110*	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E110*(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGGCGCCACGGAGTGCTGCCT	0.607																																							uc011dlp.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(328-330)GAG>TAG		olfactory receptor, family 10, subfamily C,							75.0	77.0	77.0					6																	29408120		1510	2708	4218	SO:0001587	stop_gained	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408120G>T		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.328G>T	6.37:g.29408120G>T	ENSP00000419119:p.Glu110*					OR11A1_uc010jrh.1_Intron	p.E110*	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			1	328	+			110			Helical; Name=3; (Potential).		Q5SUN7|Q96R18	Nonsense_Mutation	SNP	ENST00000444197.2	37	c.328G>T	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	39	7.582896	0.98371	.	.	ENSG00000206474	ENST00000444197	.	.	.	3.11	2.22	0.28083	.	0.186478	0.25622	N	0.029414	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.0575	0.42255	0.1047:0.0:0.8953:0.0	.	.	.	.	X	110	.	ENSP00000419119:E110X	E	+	1	0	OR10C1	29516099	0.733000	0.28132	0.588000	0.28705	0.606000	0.37113	3.304000	0.51866	0.636000	0.30508	0.196000	0.17591	GAG		0.607	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			22	68	1	0	3.62473e-10	0.012319	5.21961e-10	22	68				
OR2H1	26716	broad.mit.edu	37	6	29429580	29429580	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:29429580C>A	ENST00000377136.1	+	4	499	c.34C>A	c.(34-36)Ctt>Att	p.L12I	OR2H1_ENST00000377133.1_Missense_Mutation_p.L12I|OR2H1_ENST00000377132.1_Missense_Mutation_p.L12I|OR2H1_ENST00000442615.1_Missense_Mutation_p.L12I|OR2H1_ENST00000396792.2_Missense_Mutation_p.L12I|OR2H1_ENST00000473369.1_Intron			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L12I(1)		large_intestine(5)|lung(12)	17						GGGCTTCCTCCTTCTGGGCTT	0.517																																							uc003nmi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(34-36)CTT>ATT		olfactory receptor, family 2, subfamily H,							164.0	169.0	167.0					6																	29429580		1511	2709	4220	SO:0001583	missense	26716				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29429580C>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.34C>A	6.37:g.29429580C>A	ENSP00000366340:p.Leu12Ile					OR2H1_uc003nmj.1_Missense_Mutation_p.L12I|OR2H1_uc010jri.1_Intron	p.L12I	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN			3	477	+			12			Extracellular (Potential).		B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	c.34C>A	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095537	0.56075	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.01172	5.23;5.23;5.23;5.23;5.23	2.88	2.01	0.26516	.	0.000000	0.33180	N	0.005198	T	0.01029	0.0034	M	0.83118	2.625	0.22112	N	0.999352	D	0.54207	0.965	P	0.44732	0.459	T	0.44236	-0.9341	10	0.87932	D	0	.	8.123	0.30982	0.0:0.7843:0.0:0.2157	.	12	Q9GZK4	OR2H1_HUMAN	I	12	ENSP00000366340:L12I;ENSP00000366337:L12I;ENSP00000393254:L12I;ENSP00000366336:L12I;ENSP00000380010:L12I	ENSP00000366336:L12I	L	+	1	0	OR2H1	29537559	0.004000	0.15560	0.998000	0.56505	0.937000	0.57800	0.128000	0.15810	0.766000	0.33244	0.603000	0.83216	CTT		0.517	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			14	221	1	0	2.32078e-09	0.003163	3.28752e-09	14	221				
OR2H1	26716	broad.mit.edu	37	6	29429884	29429884	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:29429884T>A	ENST00000377136.1	+	4	803	c.338T>A	c.(337-339)cTg>cAg	p.L113Q	OR2H1_ENST00000377133.1_Missense_Mutation_p.L113Q|OR2H1_ENST00000377132.1_Missense_Mutation_p.L113Q|OR2H1_ENST00000442615.1_Missense_Mutation_p.L113Q|OR2H1_ENST00000396792.2_Missense_Mutation_p.L113Q|OR2H1_ENST00000473369.1_3'UTR			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L113Q(1)		large_intestine(5)|lung(12)	17						TGCATCCTCCTGACAGTGATG	0.602																																							uc003nmi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(337-339)CTG>CAG		olfactory receptor, family 2, subfamily H,							156.0	160.0	159.0					6																	29429884		1511	2709	4220	SO:0001583	missense	26716				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29429884T>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.338T>A	6.37:g.29429884T>A	ENSP00000366340:p.Leu113Gln					OR2H1_uc003nmj.1_Missense_Mutation_p.L113Q|OR2H1_uc010jri.1_Missense_Mutation_p.L35Q	p.L113Q	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN			3	781	+			113			Helical; Name=3; (Potential).		B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	c.338T>A	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387023	0.42308	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.02140	4.43;4.43;4.43;4.43;4.43	2.92	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32068	N	0.006632	T	0.05364	0.0142	H	0.96430	3.82	0.26658	N	0.971965	P	0.45594	0.862	P	0.47134	0.539	T	0.03555	-1.1025	10	0.87932	D	0	.	11.7453	0.51817	0.0:0.0:0.0:1.0	.	113	Q9GZK4	OR2H1_HUMAN	Q	113	ENSP00000366340:L113Q;ENSP00000366337:L113Q;ENSP00000393254:L113Q;ENSP00000366336:L113Q;ENSP00000380010:L113Q	ENSP00000366336:L113Q	L	+	2	0	OR2H1	29537863	0.858000	0.29795	0.075000	0.20258	0.125000	0.20455	6.570000	0.73996	1.582000	0.49881	0.491000	0.48974	CTG		0.602	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			32	112	0	0	0	0.009535	0	32	112				
TRIM40	135644	broad.mit.edu	37	6	30105048	30105048	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:30105048T>A	ENST00000396581.1	+	2	621	c.235T>A	c.(235-237)Tgc>Agc	p.C79S	TRIM40_ENST00000376724.2_Missense_Mutation_p.C79S|TRIM40_ENST00000307859.4_Missense_Mutation_p.C79S			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	79					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)	p.C79S(1)		ovary(1)	1						GAAGAGGGTGTGCAGGTTCTG	0.552																																							uc003npk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(235-237)TGC>AGC		tripartite motif-containing 40							165.0	134.0	145.0					6																	30105048		1511	2709	4220	SO:0001583	missense	135644					intracellular	zinc ion binding	g.chr6:30105048T>A	AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18736	protein-coding gene	gene with protein product			"""tripartite motif-containing 40"""				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.235T>A	6.37:g.30105048T>A	ENSP00000379826:p.Cys79Ser					TRIM40_uc003npl.1_RNA|TRIM40_uc003npm.2_Missense_Mutation_p.C79S	p.C79S	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN			2	621	+			79			B box-type.		Q5SRJ6|Q5SS36|Q8TD96	Missense_Mutation	SNP	ENST00000396581.1	37	c.235T>A		.	.	.	.	.	.	.	.	.	.	T	6.107	0.388091	0.11581	.	.	ENSG00000204614	ENST00000396581;ENST00000376724;ENST00000307859	T;T;T	0.54071	0.59;0.59;0.59	4.71	-7.81	0.01210	Zinc finger, B-box (1);	1.862980	0.02626	N	0.103783	T	0.14485	0.0350	L	0.45137	1.4	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.08106	-1.0738	10	0.21540	T	0.41	.	2.5048	0.04642	0.2665:0.4273:0.119:0.1872	.	79;79	Q5SRJ6;Q6P9F5	.;TRI40_HUMAN	S	79	ENSP00000379826:C79S;ENSP00000365914:C79S;ENSP00000308310:C79S	ENSP00000308310:C79S	C	+	1	0	TRIM40	30213027	0.000000	0.05858	0.000000	0.03702	0.457000	0.32468	-1.112000	0.03299	-1.341000	0.02225	-0.350000	0.07774	TGC		0.552	TRIM40-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000076117.2			13	82	0	0	0	0.001368	0	13	82				
PI16	221476	broad.mit.edu	37	6	36930959	36930959	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:36930959C>T	ENST00000373674.3	+	5	1169	c.841C>T	c.(841-843)Cca>Tca	p.P281S	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	281					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)	p.P281S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AACAGAGGCTCCACCTTGCGT	0.582																																							uc003ona.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(841-843)CCA>TCA		protease inhibitor 16 precursor							88.0	74.0	78.0					6																	36930959		2203	4300	6503	SO:0001583	missense	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36930959C>T		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.841C>T	6.37:g.36930959C>T	ENSP00000362778:p.Pro281Ser					PI16_uc003omz.1_Intron|PI16_uc003onb.2_Intron|PI16_uc011dts.1_Missense_Mutation_p.P52S	p.P281S	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN			5	1169	+			281			Extracellular (Potential).		Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	c.841C>T	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	C	5.620	0.299177	0.10622	.	.	ENSG00000164530	ENST00000373674;ENST00000539035	T	0.05996	3.36	5.8	1.29	0.21616	.	0.762788	0.11692	N	0.538767	T	0.01976	0.0062	L	0.54323	1.7	0.09310	N	0.999998	B	0.18461	0.028	B	0.13407	0.009	T	0.44452	-0.9327	10	0.72032	D	0.01	.	2.1333	0.03755	0.1578:0.4829:0.1548:0.2045	.	281	Q6UXB8	PI16_HUMAN	S	281;133	ENSP00000362778:P281S	ENSP00000362778:P281S	P	+	1	0	PI16	37038937	0.001000	0.12720	0.019000	0.16419	0.079000	0.17450	0.433000	0.21477	0.323000	0.23307	0.655000	0.94253	CCA		0.582	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		15	69	0	0	0	0.00245	0	15	69				
UBR2	23304	broad.mit.edu	37	6	42613255	42613255	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:42613255A>G	ENST00000372899.1	+	21	2594	c.2336A>G	c.(2335-2337)aAg>aGg	p.K779R	UBR2_ENST00000372883.3_Missense_Mutation_p.K283R|UBR2_ENST00000372901.1_Missense_Mutation_p.K779R	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	779					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K779R(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GATGAAATCAAGCGAGAGATT	0.343																																							uc011dur.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2335-2337)AAG>AGG		ubiquitin protein ligase E3 component n-recognin							124.0	118.0	120.0					6																	42613255		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42613255A>G	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2336A>G	6.37:g.42613255A>G	ENSP00000361990:p.Lys779Arg					UBR2_uc011dus.1_Missense_Mutation_p.K424R|UBR2_uc003osh.2_RNA	p.K779R	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		21	2336	+	Colorectal(47;0.196)		779					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.2336A>G	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.090219	0.36855	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.56941	0.43;0.43;0.43	5.6	5.6	0.85130	.	0.086330	0.85682	D	0.000000	T	0.11110	0.0271	N	0.02391	-0.57	0.53688	D	0.999971	B;B	0.18013	0.025;0.002	B;B	0.15052	0.012;0.003	T	0.23368	-1.0190	10	0.02654	T	1	-0.124	16.0697	0.80914	1.0:0.0:0.0:0.0	.	779;779	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	R	779;779;283	ENSP00000361990:K779R;ENSP00000361992:K779R;ENSP00000361974:K283R	ENSP00000361974:K283R	K	+	2	0	UBR2	42721233	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.711000	0.68400	2.260000	0.74910	0.528000	0.53228	AAG		0.343	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		15	47	0	0	0	0.00245	0	15	47				
UBR2	23304	broad.mit.edu	37	6	42625764	42625764	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:42625764C>T	ENST00000372899.1	+	27	3133	c.2875C>T	c.(2875-2877)Cct>Tct	p.P959S	UBR2_ENST00000372883.3_Missense_Mutation_p.P463S|UBR2_ENST00000372901.1_Missense_Mutation_p.P959S	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	959					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P959S(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGCCGTAGAACCTGGTGAAGC	0.393																																							uc011dur.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2875-2877)CCT>TCT		ubiquitin protein ligase E3 component n-recognin							178.0	185.0	183.0					6																	42625764		2203	4300	6503	SO:0001583	missense	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42625764C>T	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.2875C>T	6.37:g.42625764C>T	ENSP00000361990:p.Pro959Ser					UBR2_uc011dus.1_Missense_Mutation_p.P604S|UBR2_uc003osh.2_RNA	p.P959S	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		27	2875	+	Colorectal(47;0.196)		959					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Missense_Mutation	SNP	ENST00000372899.1	37	c.2875C>T	CCDS4870.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864475	0.71949	.	.	ENSG00000024048	ENST00000372899;ENST00000372901;ENST00000372883	T;T;T	0.63255	-0.03;-0.03;-0.03	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.67942	0.2947	L	0.50919	1.6	0.80722	D	1	D;B	0.89917	1.0;0.04	D;B	0.72338	0.977;0.023	T	0.60439	-0.7263	10	0.21014	T	0.42	-21.7181	19.6213	0.95656	0.0:1.0:0.0:0.0	.	959;959	Q8IWV8-4;Q8IWV8	.;UBR2_HUMAN	S	959;959;463	ENSP00000361990:P959S;ENSP00000361992:P959S;ENSP00000361974:P463S	ENSP00000361974:P463S	P	+	1	0	UBR2	42733742	1.000000	0.71417	0.999000	0.59377	0.476000	0.33039	7.100000	0.76989	2.624000	0.88883	0.563000	0.77884	CCT		0.393	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		60	209	0	0	0	0.00361	0	60	209				
GCM1	8521	broad.mit.edu	37	6	52993253	52993253	+	Silent	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:52993253T>C	ENST00000259803.7	-	6	1273	c.1062A>G	c.(1060-1062)ccA>ccG	p.P354P	RP11-506E9.3_ENST00000566420.1_RNA	NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	354					anatomical structure morphogenesis (GO:0009653)|astrocyte fate commitment (GO:0060018)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell differentiation involved in embryonic placenta development (GO:0060706)|positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P354P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TTGGCCATAATGGGGGACAGC	0.493																																							uc003pbp.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1060-1062)CCA>CCG		glial cells missing homolog a							85.0	91.0	89.0					6																	52993253		2203	4300	6503	SO:0001819	synonymous_variant	8521					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:52993253T>C	D88613	CCDS4950.1	6p21-p12	2008-08-29	2001-11-28	2002-09-27	ENSG00000137270	ENSG00000137270			4197	protein-coding gene	gene with protein product		603715	"""glial cells missing (Drosophila) homolog a"""	GCMA		8962155	Standard	NM_003643		Approved	hGCMa	uc003pbp.3	Q9NP62	OTTHUMG00000014871	ENST00000259803.7:c.1062A>G	6.37:g.52993253T>C							p.P354P	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN			6	1271	-	Lung NSC(77;0.0755)		354					Q4VAQ7|Q5T0X0|Q99468|Q9P1X3	Silent	SNP	ENST00000259803.7	37	c.1062A>G	CCDS4950.1																																																																																				0.493	GCM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040953.1			7	131	0	0	0	0.00308	0	7	131				
FAM83B	222584	broad.mit.edu	37	6	54735190	54735190	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:54735190A>T	ENST00000306858.7	+	2	262	c.146A>T	c.(145-147)cAg>cTg	p.Q49L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	49								p.Q49L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTTCTTGTCCAGGAACGAGTT	0.388																																							uc003pck.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(145-147)CAG>CTG		hypothetical protein LOC222584							112.0	113.0	113.0					6																	54735190		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54735190A>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.146A>T	6.37:g.54735190A>T	ENSP00000304078:p.Gln49Leu						p.Q49L	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			2	262	+	Lung NSC(77;0.0178)|Renal(3;0.122)		49					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.146A>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.045988	0.36085	.	.	ENSG00000168143	ENST00000306858	T	0.11930	2.73	5.41	4.25	0.50352	.	0.232965	0.43747	D	0.000532	T	0.04634	0.0126	L	0.34521	1.04	0.25752	N	0.985045	B	0.20887	0.049	B	0.24541	0.054	T	0.27502	-1.0072	10	0.66056	D	0.02	-20.3615	11.59	0.50941	0.9296:0.0:0.0704:0.0	.	49	Q5T0W9	FA83B_HUMAN	L	49	ENSP00000304078:Q49L	ENSP00000304078:Q49L	Q	+	2	0	FAM83B	54843149	0.981000	0.34729	1.000000	0.80357	0.753000	0.42808	1.819000	0.39022	0.991000	0.38814	-0.621000	0.04028	CAG		0.388	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		8	114	0	0	0	0.00308	0	8	114				
FAM83B	222584	broad.mit.edu	37	6	54792420	54792420	+	Missense_Mutation	SNP	G	G	T	rs200621823		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:54792420G>T	ENST00000306858.7	+	4	840	c.724G>T	c.(724-726)Ggt>Tgt	p.G242C		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	242								p.G242C(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGTGATGTACGGTTCTTACAG	0.303																																							uc003pck.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(724-726)GGT>TGT		hypothetical protein LOC222584							127.0	133.0	131.0					6																	54792420		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54792420G>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.724G>T	6.37:g.54792420G>T	ENSP00000304078:p.Gly242Cys						p.G242C	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			4	840	+	Lung NSC(77;0.0178)|Renal(3;0.122)		242					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.724G>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801304	0.90538	.	.	ENSG00000168143	ENST00000306858	T	0.53640	0.61	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.73385	0.3580	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77694	-0.2492	10	0.87932	D	0	-28.7199	20.3931	0.98965	0.0:0.0:1.0:0.0	.	242	Q5T0W9	FA83B_HUMAN	C	242	ENSP00000304078:G242C	ENSP00000304078:G242C	G	+	1	0	FAM83B	54900379	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.439000	0.97543	2.824000	0.97209	0.655000	0.94253	GGT		0.303	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		29	94	1	0	1.74807e-11	0.010818	2.6221e-11	29	94				
COL21A1	81578	broad.mit.edu	37	6	56006587	56006587	+	Missense_Mutation	SNP	T	T	C	rs373874699		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:56006587T>C	ENST00000244728.5	-	12	1935	c.1538A>G	c.(1537-1539)gAc>gGc	p.D513G	COL21A1_ENST00000370819.1_Missense_Mutation_p.D510G|COL21A1_ENST00000535941.1_Missense_Mutation_p.D513G	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	513	Collagen-like 2.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.D513G(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTTTACCTTGTCACCATCTCG	0.393																																							uc003pcs.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1537-1539)GAC>GGC		collagen, type XXI, alpha 1 precursor							172.0	158.0	162.0					6																	56006587		1934	4143	6077	SO:0001583	missense	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56006587T>C	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.1538A>G	6.37:g.56006587T>C	ENSP00000244728:p.Asp513Gly					COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.D513G|COL21A1_uc003pcu.1_Missense_Mutation_p.D510G	p.D513G	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		12	1770	-	Lung NSC(77;0.0483)		513					A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.1538A>G	CCDS55025.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.592|9.592	1.126508|1.126508	0.20959|0.20959	.|.	.|.	ENSG00000124749|ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811|ENST00000456983	T;T;T|.	0.16743|.	2.32;2.32;2.32|.	5.15|5.15	0.992|0.992	0.19819|0.19819	.|.	1.356430|.	0.04983|.	N|.	0.465906|.	T|T	0.30759|0.30759	0.0775|0.0775	L|L	0.53249|0.53249	1.67|1.67	0.58432|0.58432	D|D	0.999999|0.999999	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.29088|0.29088	-1.0023|-1.0023	10|5	0.28530|.	T|.	0.3|.	.|.	1.5937|1.5937	0.02659|0.02659	0.1663:0.1066:0.1713:0.5558|0.1663:0.1066:0.1713:0.5558	.|.	510;513|.	Q96P44-3;Q96P44|.	.;COLA1_HUMAN|.	G|A	513;510;513;510|77	ENSP00000244728:D513G;ENSP00000359855:D510G;ENSP00000444384:D513G|.	ENSP00000244728:D513G|.	D|T	-|-	2|1	0|0	COL21A1|COL21A1	56114546|56114546	0.985000|0.985000	0.35326|0.35326	0.997000|0.997000	0.53966|0.53966	0.848000|0.848000	0.48234|0.48234	0.406000|0.406000	0.21032|0.21032	0.341000|0.341000	0.23771|0.23771	0.533000|0.533000	0.62120|0.62120	GAC|ACA		0.393	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			5	72	0	0	0	0.00308	0	5	72				
DST	667	broad.mit.edu	37	6	56391360	56391360	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:56391360C>T	ENST00000361203.3	-	64	16975	c.16968G>A	c.(16966-16968)ctG>ctA	p.L5656L	DST_ENST00000244364.6_Silent_p.L3353L|DST_ENST00000370769.4_Silent_p.L5767L|DST_ENST00000421834.2_Silent_p.L3679L|DST_ENST00000446842.2_Silent_p.L5441L|DST_ENST00000370754.5_Silent_p.L5945L|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.L3570L			Q03001	DYST_HUMAN	dystonin	5661					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.L3353L(1)|p.L5767L(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTTCCTTTTTCAGTTCCTGAA	0.413																																							uc003pdf.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(11569-11571)CTG>CTA		dystonin isoform 2							157.0	142.0	147.0					6																	56391360		1874	4120	5994	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56391360C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16968G>A	6.37:g.56391360C>T						DST_uc003pcz.3_Silent_p.L3679L|DST_uc011dxj.1_Silent_p.L3708L|DST_uc011dxk.1_Silent_p.L3719L|DST_uc003pcy.3_Silent_p.L3353L	p.L3857L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		63	11599	-	Lung NSC(77;0.103)		5765					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.11571G>A																																																																																					0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		30	127	0	0	0	0.009535	0	30	127				
COL19A1	1310	broad.mit.edu	37	6	70647965	70647965	+	Silent	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:70647965T>A	ENST00000322773.4	+	9	1011	c.909T>A	c.(907-909)ccT>ccA	p.P303P		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	303	Collagen-like 1.|Triple-helical region 1 (COL1).				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.P303P(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						CGGGTTCACCTGGGCAGAAAG	0.398																																							uc003pfc.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)	4						c.(907-909)CCT>CCA		alpha 1 type XIX collagen precursor							68.0	72.0	71.0					6																	70647965		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.chr6:70647965T>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.909T>A	6.37:g.70647965T>A						COL19A1_uc010kam.1_Silent_p.P199P	p.P303P	NM_001858	NP_001849	Q14993	COJA1_HUMAN			9	1026	+			303			Triple-helical region 1 (COL1).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	ENST00000322773.4	37	c.909T>A	CCDS4970.1																																																																																				0.398	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			4	46	0	0	0	0.009096	0	4	46				
RIMS1	22999	broad.mit.edu	37	6	72806789	72806789	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:72806789G>A	ENST00000521978.1	+	3	383	c.383G>A	c.(382-384)tGc>tAc	p.C128Y	RIMS1_ENST00000264839.7_Missense_Mutation_p.C128Y|RIMS1_ENST00000348717.5_Missense_Mutation_p.C128Y|RIMS1_ENST00000520567.1_Missense_Mutation_p.C128Y|RIMS1_ENST00000517960.1_Missense_Mutation_p.C128Y|RIMS1_ENST00000522291.1_Missense_Mutation_p.C128Y|RIMS1_ENST00000491071.2_Missense_Mutation_p.C128Y|RIMS1_ENST00000518273.1_Missense_Mutation_p.C128Y	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	128	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.C128Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCTGATGGGTGCGGTCATCTC	0.517																																							uc003pga.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)	10						c.(382-384)TGC>TAC		regulating synaptic membrane exocytosis 1							87.0	91.0	89.0					6																	72806789		2073	4223	6296	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72806789G>A	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.383G>A	6.37:g.72806789G>A	ENSP00000428417:p.Cys128Tyr						p.C128Y	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			3	460	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	128			RabBD.|FYVE-type.		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.383G>A	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273387	0.80580	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000002	T	0.59059	0.2166	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.62015	-0.6943	10	0.87932	D	0	-14.6964	20.0804	0.97772	0.0:0.0:1.0:0.0	.	128	Q86UR5	RIMS1_HUMAN	Y	128	ENSP00000430101:C128Y;ENSP00000275037:C128Y;ENSP00000264839:C128Y;ENSP00000429959:C128Y;ENSP00000430408:C128Y;ENSP00000430502:C128Y;ENSP00000430932:C128Y;ENSP00000428417:C128Y	ENSP00000264839:C128Y	C	+	2	0	RIMS1	72863510	1.000000	0.71417	0.991000	0.47740	0.475000	0.33008	9.843000	0.99491	2.738000	0.93877	0.655000	0.94253	TGC		0.517	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			9	37	0	0	0	0.004482	0	9	37				
CD109	135228	broad.mit.edu	37	6	74475751	74475751	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:74475751G>T	ENST00000287097.5	+	11	1318	c.1206G>T	c.(1204-1206)tgG>tgT	p.W402C	CD109_ENST00000437994.2_Missense_Mutation_p.W402C|CD109_ENST00000422508.2_Missense_Mutation_p.W325C			Q6YHK3	CD109_HUMAN	CD109 molecule	402					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)	p.W402C(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGAGTACTGGAGCGGATCTA	0.393																																							uc003php.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(1204-1206)TGG>TGT		CD109 antigen isoform 1 precursor							108.0	104.0	105.0					6																	74475751		2203	4300	6503	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74475751G>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1206G>T	6.37:g.74475751G>T	ENSP00000287097:p.Trp402Cys					CD109_uc010kaz.2_Missense_Mutation_p.W402C|CD109_uc003phq.2_Missense_Mutation_p.W402C|CD109_uc010kba.2_Missense_Mutation_p.W325C	p.W402C	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			11	1631	+			402					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.1206G>T	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	7.788	0.710864	0.15239	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.22539	1.95;2.16;1.95	4.69	2.83	0.33086	.	1.442450	0.03476	N	0.214413	T	0.10594	0.0259	L	0.43152	1.355	0.09310	N	0.999991	P;P;P;P	0.52577	0.846;0.846;0.954;0.56	B;B;P;B	0.46452	0.443;0.443;0.517;0.095	T	0.13683	-1.0500	10	0.44086	T	0.13	.	5.9606	0.19297	0.1734:0.1589:0.6677:0.0	.	325;402;402;402	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	C	402;325;402	ENSP00000388062:W402C;ENSP00000404475:W325C;ENSP00000287097:W402C	ENSP00000287097:W402C	W	+	3	0	CD109	74532472	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.725000	0.25970	0.644000	0.30656	0.462000	0.41574	TGG		0.393	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		16	42	1	0	4.7546e-09	0.004007	6.62725e-09	16	42				
TBX18	9096	broad.mit.edu	37	6	85446986	85446987	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:85446986_85446987GG>TT	ENST00000369663.5	-	8	1577_1578	c.1240_1241CC>AA	c.(1240-1242)CCt>AAt	p.P414N	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	414					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.P414N(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		ATAGTCAGCAGGGGCCAGACTA	0.594																																							uc003pkl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|lung(1)	5						c.(1240-1242)CCT>AAT		T-box 18																																				SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446986_85446987GG>TT	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1240_1241delinsTT	6.37:g.85446986_85446987delinsTT	ENSP00000358677:p.Pro414Asn					TBX18_uc010kbq.1_Intron	p.P414N	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1240_1241	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	414					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	DNP	ENST00000369663.5	37	c.1240_1241CC>AA	CCDS34495.1																																																																																				0.594	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		19	68	0	0	0	0.004672	0	19	68				
EPHA7	2045	broad.mit.edu	37	6	93964513	93964513	+	Splice_Site	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:93964513C>A	ENST00000369303.4	-	14	2568	c.2384G>T	c.(2383-2385)gGt>gTt	p.G795V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	795	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.G795V(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AATTTTTCCACCCTGTTATAA	0.353																																							uc003poe.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(2383-2385)GGT>GTT		ephrin receptor EphA7 precursor							69.0	60.0	63.0					6																	93964513		2203	4300	6503	SO:0001630	splice_region_variant	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93964513C>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2383-1G>T	6.37:g.93964513C>A						EPHA7_uc003pof.2_Missense_Mutation_p.G790V|EPHA7_uc011eac.1_Missense_Mutation_p.G791V	p.G795V	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	14	2625	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	795			Cytoplasmic (Potential).|Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2384G>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544133	0.86022	.	.	ENSG00000135333	ENST00000369303	D	0.83075	-1.68	5.39	5.39	0.77823	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.106561	0.64402	D	0.000005	D	0.87799	0.6268	L	0.49256	1.55	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.998	D;D;D	0.87578	0.998;0.911;0.947	D	0.88560	0.3122	10	0.72032	D	0.01	.	19.1563	0.93511	0.0:1.0:0.0:0.0	.	791;790;795	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	V	795	ENSP00000358309:G795V	ENSP00000358309:G795V	G	-	2	0	EPHA7	94021234	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.715000	0.84713	2.542000	0.85734	0.655000	0.94253	GGT		0.353	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1		Missense_Mutation	4	28	1	0	0.00909568	0.009096	0.00961122	4	28				
EPHA7	2045	broad.mit.edu	37	6	93974360	93974360	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:93974360C>A	ENST00000369303.4	-	8	1878	c.1694G>T	c.(1693-1695)gGg>gTg	p.G565V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	565					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.G565V(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AATGATGGTCCCAGCTACAGC	0.388																																							uc003poe.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(1693-1695)GGG>GTG		ephrin receptor EphA7 precursor							76.0	71.0	73.0					6																	93974360		2203	4299	6502	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93974360C>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1694G>T	6.37:g.93974360C>A	ENSP00000358309:p.Gly565Val					EPHA7_uc003pof.2_Missense_Mutation_p.G560V|EPHA7_uc011eac.1_Missense_Mutation_p.G565V	p.G565V	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	8	1935	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	565			Helical; (Potential).		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.1694G>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092955	0.56075	.	.	ENSG00000135333	ENST00000369303	T	0.07567	3.18	5.49	5.49	0.81192	.	0.127367	0.51477	D	0.000086	T	0.18964	0.0455	L	0.60845	1.875	0.80722	D	1	D;P;B	0.89917	1.0;0.499;0.366	D;B;B	0.87578	0.998;0.161;0.052	T	0.00697	-1.1605	10	0.37606	T	0.19	.	19.3706	0.94481	0.0:1.0:0.0:0.0	.	565;560;565	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	V	565	ENSP00000358309:G565V	ENSP00000358309:G565V	G	-	2	0	EPHA7	94031081	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.920000	0.70017	2.584000	0.87258	0.655000	0.94253	GGG		0.388	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			22	52	1	0	5.45024e-15	0.00333	8.75392e-15	22	52				
LIN28B	389421	broad.mit.edu	37	6	105406060	105406060	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:105406060C>A	ENST00000345080.4	+	2	300	c.97C>A	c.(97-99)Cac>Aac	p.H33N		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	33	CSD.				miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.H33N(1)		large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				CGGAACTGGCCACTGTAAGTG	0.547																																							uc003pqv.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(97-99)CAC>AAC		lin-28 homolog B							78.0	85.0	82.0					6																	105406060		2203	4298	6501	SO:0001583	missense	389421				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr6:105406060C>A	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.97C>A	6.37:g.105406060C>A	ENSP00000344401:p.His33Asn					LIN28B_uc010kda.1_5'UTR	p.H33N	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN			2	300	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	33			CSD.		A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	ENST00000345080.4	37	c.97C>A	CCDS34504.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139762	0.56936	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.78	5.78	0.91487	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);	0.092352	0.85682	D	0.000000	T	0.52008	0.1708	N	0.20530	0.585	0.54753	D	0.999981	D	0.65815	0.995	P	0.60609	0.877	T	0.47071	-0.9145	9	0.27082	T	0.32	-9.0791	20.0044	0.97430	0.0:1.0:0.0:0.0	.	33	Q6ZN17	LN28B_HUMAN	N	33	.	ENSP00000344401:H33N	H	+	1	0	LIN28B	105512753	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.040000	0.57333	2.714000	0.92807	0.650000	0.86243	CAC		0.547	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317		28	115	1	0	0.000184323	0.007291	0.000208487	28	115				
SOBP	55084	broad.mit.edu	37	6	107956574	107956574	+	Silent	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:107956574G>C	ENST00000317357.5	+	6	3185	c.2526G>C	c.(2524-2526)ccG>ccC	p.P842P	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)									p.P842P(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCATGGCACCGTGCATCATCT	0.612																																							uc003prx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2524-2526)CCG>CCC		sine oculis binding protein homolog							56.0	69.0	65.0					6																	107956574		2106	4216	6322	SO:0001819	synonymous_variant	55084						metal ion binding	g.chr6:107956574G>C	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2526G>C	6.37:g.107956574G>C							p.P842P	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	3030	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	842						Silent	SNP	ENST00000317357.5	37	c.2526G>C	CCDS43488.1																																																																																				0.612	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		11	87	0	0	0	0.010729	0	11	87				
NR2E1	7101	broad.mit.edu	37	6	108502825	108502825	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:108502825A>T	ENST00000368986.4	+	8	1673	c.965A>T	c.(964-966)cAg>cTg	p.Q322L	NR2E1_ENST00000368983.3_Missense_Mutation_p.Q359L	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	322	Ligand-binding. {ECO:0000250}.				aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.Q322L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GATGAGGCTCAGCTAACGCTC	0.473																																							uc003psg.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(964-966)CAG>CTG		nuclear receptor subfamily 2, group E, member 1							137.0	121.0	126.0					6																	108502825		2203	4300	6503	SO:0001583	missense	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108502825A>T	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.965A>T	6.37:g.108502825A>T	ENSP00000357982:p.Gln322Leu						p.Q322L	NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	8	1720	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	322			Ligand-binding (By similarity).		Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	c.965A>T	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	A	33	5.225015	0.95173	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	T;T	0.71698	-0.59;-0.59	5.97	5.97	0.96955	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.73536	0.3599	L	0.54908	1.71	0.80722	D	1	D	0.55800	0.973	P	0.61201	0.885	T	0.72124	-0.4385	10	0.33940	T	0.23	.	16.43	0.83839	1.0:0.0:0.0:0.0	.	322	Q9Y466	NR2E1_HUMAN	L	322;359	ENSP00000357982:Q322L;ENSP00000357979:Q359L	ENSP00000357979:Q359L	Q	+	2	0	NR2E1	108609518	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.894000	0.92506	2.283000	0.76528	0.533000	0.62120	CAG		0.473	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			13	70	0	0	0	0.00245	0	13	70				
CEP57L1	285753	broad.mit.edu	37	6	109471397	109471397	+	Missense_Mutation	SNP	G	G	T	rs565910794		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:109471397G>T	ENST00000517392.1	+	4	843	c.417G>T	c.(415-417)atG>atT	p.M139I	CEP57L1_ENST00000407272.1_Missense_Mutation_p.M139I|CEP57L1_ENST00000519095.1_Missense_Mutation_p.M139I|CEP57L1_ENST00000521522.1_Missense_Mutation_p.M139I|CEP57L1_ENST00000336977.4_Missense_Mutation_p.M63I|CEP57L1_ENST00000523787.1_Missense_Mutation_p.M142I|CEP57L1_ENST00000368968.2_Missense_Mutation_p.M139I|CEP57L1_ENST00000368970.2_Missense_Mutation_p.M139I|CEP57L1_ENST00000359793.3_Missense_Mutation_p.M139I|CEP57L1_ENST00000521277.1_Missense_Mutation_p.M123I|CEP57L1_ENST00000520883.1_Missense_Mutation_p.M63I	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	139					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.M139I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						CAAAGAGAATGGTTCTCAACG	0.323													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17869	0.0		0.0	False		,,,				2504	0.0						uc010kdk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(415-417)ATG>ATT		hypothetical protein LOC285753							97.0	100.0	99.0					6																	109471397		2203	4300	6503	SO:0001583	missense	285753					microtubule|microtubule organizing center		g.chr6:109471397G>T	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.417G>T	6.37:g.109471397G>T	ENSP00000427844:p.Met139Ile					C6orf182_uc003psv.3_Missense_Mutation_p.M123I|C6orf182_uc003psw.3_Missense_Mutation_p.M139I|C6orf182_uc003psx.3_Missense_Mutation_p.M139I|C6orf182_uc010kdl.2_Missense_Mutation_p.M139I|C6orf182_uc003psy.3_Missense_Mutation_p.M139I	p.M139I	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)	6	994	+		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)	139			Potential.		G5E992	Missense_Mutation	SNP	ENST00000517392.1	37	c.417G>T	CCDS5071.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769223	0.69992	.	.	ENSG00000183137	ENST00000521277;ENST00000517392;ENST00000407272;ENST00000336977;ENST00000540778;ENST00000519286;ENST00000518853;ENST00000521522;ENST00000524064;ENST00000519407;ENST00000519095;ENST00000368968;ENST00000522490;ENST00000523209;ENST00000368970;ENST00000520883;ENST00000523787;ENST00000359793	T;T;T;T;T;T;T;T;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;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.35	3.4	0.38934	.	0.109676	0.85682	N	0.000000	T	0.46756	0.1409	L	0.47716	1.5	0.51012	D	0.9999	D;P;P;P	0.54397	0.966;0.909;0.649;0.649	P;P;B;B	0.62885	0.908;0.701;0.336;0.336	T	0.52268	-0.8598	10	0.87932	D	0	-5.5404	11.3291	0.49467	0.0:0.1373:0.7203:0.1424	.	139;139;139;123	Q8IYX8;G5E992;Q6P2R3;E5RJH1	CE57L_HUMAN;.;.;.	I	123;139;139;63;139;139;139;139;139;1;139;139;1;1;139;63;142;139	ENSP00000430558:M123I;ENSP00000427844:M139I;ENSP00000383936:M139I;ENSP00000337392:M63I;ENSP00000429812:M139I;ENSP00000430265:M139I;ENSP00000428344:M139I;ENSP00000427771:M139I;ENSP00000430565:M1I;ENSP00000430911:M139I;ENSP00000357964:M139I;ENSP00000429957:M1I;ENSP00000430013:M1I;ENSP00000357966:M139I;ENSP00000430011:M63I;ENSP00000430529:M142I;ENSP00000352841:M139I	ENSP00000337392:M63I	M	+	3	0	CEP57L1	109578090	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.838000	0.62803	1.209000	0.43321	0.462000	0.41574	ATG		0.323	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830		6	138	1	0	8.12818e-05	0.001984	9.32508e-05	6	138				
CEP57L1	285753	broad.mit.edu	37	6	109484117	109484117	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:109484117C>T	ENST00000517392.1	+	11	1753	c.1327C>T	c.(1327-1329)Cga>Tga	p.R443*	CEP57L1_ENST00000407272.1_Nonsense_Mutation_p.R443*|CEP57L1_ENST00000521522.1_Nonsense_Mutation_p.R390*|CEP57L1_ENST00000336977.4_Nonsense_Mutation_p.R343*|CEP57L1_ENST00000523787.1_Nonsense_Mutation_p.R446*|CEP57L1_ENST00000368968.2_3'UTR|C6orf183_ENST00000417143.3_RNA|CEP57L1_ENST00000368970.2_Nonsense_Mutation_p.R460*|CEP57L1_ENST00000359793.3_Nonsense_Mutation_p.R443*|CEP57L1_ENST00000520883.1_Nonsense_Mutation_p.R343*	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	443					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.R443*(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						TCATCCAATACGAGTTCATAA	0.358																																							uc010kdk.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(1327-1329)CGA>TGA		hypothetical protein LOC285753							69.0	69.0	69.0					6																	109484117		2203	4300	6503	SO:0001587	stop_gained	285753					microtubule|microtubule organizing center		g.chr6:109484117C>T	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.1327C>T	6.37:g.109484117C>T	ENSP00000427844:p.Arg443*					C6orf182_uc003psx.3_3'UTR|C6orf182_uc010kdl.2_Nonsense_Mutation_p.R443*|C6orf182_uc003psy.3_Nonsense_Mutation_p.R443*	p.R443*	NM_001083535	NP_001077004	Q8IYX8	CE57L_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)	13	1904	+		all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11)	443					G5E992	Nonsense_Mutation	SNP	ENST00000517392.1	37	c.1327C>T	CCDS5071.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100145	0.76983	.	.	ENSG00000183137	ENST00000517392;ENST00000407272;ENST00000336977;ENST00000521522;ENST00000368970;ENST00000520883;ENST00000523787;ENST00000359793	.	.	.	5.47	2.51	0.30379	.	0.400023	0.26662	N	0.023158	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	0.003	4.2372	0.10632	0.3777:0.4858:0.0:0.1365	.	.	.	.	X	443;443;343;390;460;343;446;443	.	ENSP00000337392:R343X	R	+	1	2	CEP57L1	109590810	0.001000	0.12720	0.969000	0.41365	0.952000	0.60782	0.829000	0.27449	1.410000	0.46936	0.591000	0.81541	CGA		0.358	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	NM_173830		4	47	0	0	0	0.009096	0	4	47				
AK9	221264	broad.mit.edu	37	6	109954510	109954510	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:109954510G>A	ENST00000424296.2	-	11	1026	c.950C>T	c.(949-951)aCt>aTt	p.T317I	AK9_ENST00000368948.2_Missense_Mutation_p.T317I|AK9_ENST00000341338.6_5'UTR|AK9_ENST00000285397.5_Missense_Mutation_p.T317I	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	317					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.T317I(2)									AGATGCAAGAGTACGAAATAG	0.303																																							uc003ptn.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(949-951)ACT>ATT		adenylate kinase domain containing 1 isoform 1							84.0	82.0	82.0					6																	109954510		2203	4296	6499	SO:0001583	missense	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109954510G>A	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.950C>T	6.37:g.109954510G>A	ENSP00000410186:p.Thr317Ile					AKD1_uc003ptr.3_Missense_Mutation_p.T317I	p.T317I	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			11	1027	-			317					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.950C>T	CCDS55048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.80|10.80	1.452703|1.452703	0.26074|0.26074	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000524674|ENST00000424296;ENST00000368948;ENST00000285397	.|T;T;T	.|0.64260	.|-0.07;-0.09;-0.03	5.76|5.76	2.83|2.83	0.33086|0.33086	.|.	.|0.812583	.|0.11579	.|N	.|0.549964	T|T	0.19846|0.19846	0.0477|0.0477	L|L	0.31752|0.31752	0.955|0.955	0.09310|0.09310	N|N	1|1	.|B;P	.|0.35551	.|0.138;0.509	.|B;B	.|0.25291	.|0.02;0.059	T|T	0.07214|0.07214	-1.0784|-1.0784	5|9	.|.	.|.	.|.	-4.2836|-4.2836	4.1041|4.1041	0.10028|0.10028	0.2688:0.0:0.4641:0.2672|0.2688:0.0:0.4641:0.2672	.|.	.|317;317	.|Q5TCS8-2;Q5TCS8	.|.;AKD1_HUMAN	F|I	172|317	.|ENSP00000410186:T317I;ENSP00000357944:T317I;ENSP00000285397:T317I	.|.	L|T	-|-	1|2	0|0	AKD1|AKD1	110061203|110061203	0.007000|0.007000	0.16637|0.16637	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.745000|0.745000	0.26259|0.26259	0.270000|0.270000	0.21984|0.21984	-0.169000|-0.169000	0.13324|0.13324	CTC|ACT		0.303	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		4	20	0	0	0	0.009096	0	4	20				
EPB41L2	2037	broad.mit.edu	37	6	131186758	131186759	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:131186758_131186759CC>AA	ENST00000337057.3	-	17	2927_2928	c.2746_2747GG>TT	c.(2746-2748)GGt>TTt	p.G916F	EPB41L2_ENST00000529208.1_Missense_Mutation_p.G846F|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G658F|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G658F|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G763F|EPB41L2_ENST00000524581.1_Missense_Mutation_p.G294F|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G617F|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G846F|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G916F|EPB41L2_ENST00000531410.1_Missense_Mutation_p.G37F|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G722F	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	916	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.G916F(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CGAATCACCACCAGCCCCGCCA	0.48																																							uc003qch.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(2746-2748)GGT>TTT		erythrocyte membrane protein band 4.1-like 2																																				SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131186758_131186759CC>AA	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2746_2747delinsAA	6.37:g.131186758_131186759delinsAA	ENSP00000338481:p.Gly916Phe					EPB41L2_uc003qce.1_Missense_Mutation_p.G294F|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Missense_Mutation_p.G658F|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Missense_Mutation_p.G763F|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_Missense_Mutation_p.G77F	p.G916F	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	17	2928_2929	-	Breast(56;0.0639)		916			Carboxyl-terminal (CTD).		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	DNP	ENST00000337057.3	37	c.2746_2747GG>TT	CCDS5141.1																																																																																				0.480	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			8	58	0	0	0	0.004672	0	8	58				
KIAA1244	57221	broad.mit.edu	37	6	138584558	138584558	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:138584558C>T	ENST00000251691.4	+	12	2104	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D		NM_020340.4	NP_065073.3			KIAA1244									p.D575D(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CACCCCGGGACTGCCTAGGCC	0.587																																							uc003qhu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1936-1938)GAC>GAT		brefeldin A-inhibited guanine							73.0	84.0	80.0					6																	138584558		2203	4300	6503	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138584558C>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1938C>T	6.37:g.138584558C>T							p.D646D	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	1938	+	Breast(32;0.135)		646			SEC7.			Silent	SNP	ENST00000251691.4	37	c.1938C>T	CCDS5189.2																																																																																				0.587	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		4	111	0	0	0	0.000602	0	4	111				
LATS1	9113	broad.mit.edu	37	6	150004813	150004813	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:150004813T>C	ENST00000543571.1	-	4	1959	c.1412A>G	c.(1411-1413)aAt>aGt	p.N471S	LATS1_ENST00000392273.3_Missense_Mutation_p.N471S|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Missense_Mutation_p.N471S	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.N471S(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ACTTGCTCTATTTCCTAATGG	0.448																																							uc003qmu.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(5)|central_nervous_system(1)	6						c.(1411-1413)AAT>AGT		LATS homolog 1							150.0	154.0	152.0					6																	150004813		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150004813T>C	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1412A>G	6.37:g.150004813T>C	ENSP00000437550:p.Asn471Ser					LATS1_uc010kif.1_Missense_Mutation_p.N366S|LATS1_uc003qmv.1_Missense_Mutation_p.N471S|LATS1_uc003qmw.2_Missense_Mutation_p.N471S|LATS1_uc010kig.1_Missense_Mutation_p.N366S	p.N471S	NM_004690	NP_004681	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	1960	-		Ovarian(120;0.0164)	471						Missense_Mutation	SNP	ENST00000543571.1	37	c.1412A>G	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	T	0.026	-1.371733	0.01225	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.50001	0.76;0.76;3.36	5.33	1.32	0.21799	.	0.188265	0.36854	N	0.002374	T	0.08537	0.0212	N	0.08118	0	0.27483	N	0.952527	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.38735	-0.9647	9	.	.	.	.	9.6794	0.40061	0.0:0.4245:0.0:0.5755	.	323;471;471	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	S	471	ENSP00000437550:N471S;ENSP00000253339:N471S;ENSP00000444678:N471S	.	N	-	2	0	LATS1	150046506	0.061000	0.20836	0.993000	0.49108	0.969000	0.65631	0.282000	0.18829	-0.008000	0.14320	-0.256000	0.11100	AAT		0.448	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		44	159	0	0	0	0.00361	0	44	159				
SYNE1	23345	broad.mit.edu	37	6	152545687	152545687	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:152545687C>A	ENST00000367255.5	-	117	22065	c.21464G>T	c.(21463-21465)cGa>cTa	p.R7155L	SYNE1_ENST00000265368.4_Missense_Mutation_p.R7155L|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7084L|SYNE1_ENST00000356820.4_Missense_Mutation_p.R1679L|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7084L|SYNE1_ENST00000341594.5_Missense_Mutation_p.R6767L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7155					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R7155L(2)|p.R7084L(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGACGGAATCGGGAAAGAGA	0.418										HNSCC(10;0.0054)																													uc010kiw.2		NA																	3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(21463-21465)CGA>CTA		spectrin repeat containing, nuclear envelope 1							112.0	108.0	109.0					6																	152545687		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152545687C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.21464G>T	6.37:g.152545687C>A	ENSP00000356224:p.Arg7155Leu	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.R1679L|SYNE1_uc003qos.3_Missense_Mutation_p.R1679L|SYNE1_uc003qot.3_Missense_Mutation_p.R7084L|SYNE1_uc003qou.3_Missense_Mutation_p.R7155L|SYNE1_uc003qor.3_Missense_Mutation_p.R55L	p.R7155L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	117	22066	-		Ovarian(120;0.0955)	7155			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.21464G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.382795	0.82792	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.73	5.73	0.89815	.	0.000000	0.52532	D	0.000072	T	0.61248	0.2332	M	0.69823	2.125	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.993;0.993;0.987;0.993	T	0.60136	-0.7322	10	0.49607	T	0.09	.	15.3693	0.74551	0.0:0.9315:0.0:0.0685	.	7155;7155;7084;7084	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	L	7155;7084;7155;7084;6767;1679;77	ENSP00000356224:R7155L;ENSP00000396024:R7084L;ENSP00000265368:R7155L;ENSP00000390975:R7084L;ENSP00000341887:R6767L;ENSP00000349276:R1679L;ENSP00000356220:R77L	ENSP00000265368:R7155L	R	-	2	0	SYNE1	152587380	1.000000	0.71417	0.950000	0.38849	0.993000	0.82548	5.745000	0.68672	2.861000	0.98227	0.655000	0.94253	CGA		0.418	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		16	48	1	0	8.60227e-14	0.004007	1.34443e-13	16	48				
SYNE1	23345	broad.mit.edu	37	6	152640026	152640026	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:152640026T>G	ENST00000367255.5	-	85	16962	c.16361A>C	c.(16360-16362)aAt>aCt	p.N5454T	SYNE1_ENST00000265368.4_Missense_Mutation_p.N5454T|SYNE1_ENST00000448038.1_Missense_Mutation_p.N5383T|SYNE1_ENST00000356820.4_5'Flank|SYNE1_ENST00000423061.1_Missense_Mutation_p.N5383T|SYNE1_ENST00000341594.5_Missense_Mutation_p.N5127T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5454					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.N5454T(2)|p.N5383T(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGAACTACATTATCTGTCTT	0.393										HNSCC(10;0.0054)																													uc010kiw.2		NA																	3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(16360-16362)AAT>ACT		spectrin repeat containing, nuclear envelope 1							118.0	111.0	113.0					6																	152640026		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152640026T>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16361A>C	6.37:g.152640026T>G	ENSP00000356224:p.Asn5454Thr	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_5'Flank|SYNE1_uc003qos.3_5'Flank|SYNE1_uc003qot.3_Missense_Mutation_p.N5383T|SYNE1_uc003qou.3_Missense_Mutation_p.N5454T|SYNE1_uc010kiz.2_Missense_Mutation_p.N1209T	p.N5454T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	85	16963	-		Ovarian(120;0.0955)	5454			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.16361A>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	11.82	1.751249	0.31046	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.55234	0.62;0.63;0.53;0.63;0.59	5.23	5.23	0.72850	.	0.574975	0.16554	N	0.209349	T	0.39145	0.1067	L	0.55481	1.735	0.80722	D	1	P;B;B;P	0.45176	0.852;0.376;0.376;0.554	B;B;B;B	0.43783	0.431;0.19;0.19;0.279	T	0.22103	-1.0226	10	0.24483	T	0.36	.	15.1156	0.72397	0.0:0.0:0.0:1.0	.	5454;5454;5454;5383	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	T	5454;5383;5454;5383;5127	ENSP00000356224:N5454T;ENSP00000396024:N5383T;ENSP00000265368:N5454T;ENSP00000390975:N5383T;ENSP00000341887:N5127T	ENSP00000265368:N5454T	N	-	2	0	SYNE1	152681719	0.777000	0.28628	0.011000	0.14972	0.908000	0.53690	5.431000	0.66507	1.956000	0.56807	0.482000	0.46254	AAT		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		14	32	0	0	0	0.003163	0	14	32				
PARK2	5071	broad.mit.edu	37	6	162475170	162475170	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:162475170G>T	ENST00000366898.1	-	5	673	c.571C>A	c.(571-573)Cgg>Agg	p.R191R	PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366892.1_Silent_p.R191R|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Intron|PARK2_ENST00000366894.1_5'UTR	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	191					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.R191R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CCACTCATCCGGTTTGGAATT	0.393																																							uc003qtx.3		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(571-573)CGG>AGG		parkin isoform 1							133.0	117.0	122.0					6																	162475170		2203	4300	6503	SO:0001819	synonymous_variant	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162475170G>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.571C>A	6.37:g.162475170G>T						PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_5'UTR|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Intron|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Silent_p.R191R	p.R191R	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	5	705	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	191					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Silent	SNP	ENST00000366898.1	37	c.571C>A	CCDS5281.1																																																																																				0.393	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			14	58	1	0	9.31168e-06	0.001855	1.13435e-05	14	58				
PDE10A	10846	broad.mit.edu	37	6	165801929	165801929	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:165801929A>T	ENST00000366882.1	-	18	1794	c.1640T>A	c.(1639-1641)cTg>cAg	p.L547Q	PDE10A_ENST00000539869.2_Missense_Mutation_p.L557Q|PDE10A_ENST00000354448.4_Missense_Mutation_p.L547Q			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	547					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.L547Q(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	ACACGCAATCAGCAGTCCTTT	0.473																																					Esophageal Squamous(22;308 615 5753 12038 40624)	Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1639-1641)CTG>CAG		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						116.0	104.0	108.0					6																	165801929		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165801929A>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1640T>A	6.37:g.165801929A>T	ENSP00000355847:p.Leu547Gln					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.L477Q|PDE10A_uc003quo.2_Missense_Mutation_p.L557Q	p.L547Q	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	18	1881	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	547					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1640T>A		.	.	.	.	.	.	.	.	.	.	A	24.8	4.569569	0.86439	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	D;T;D	0.83250	-1.7;-1.28;-1.7	5.89	5.89	0.94794	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.91030	0.7178	M	0.87682	2.9	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.77557	0.975;0.99	D	0.92612	0.6100	10	0.87932	D	0	.	16.3109	0.82869	1.0:0.0:0.0:0.0	.	557;547	Q9ULW9;Q9Y233	.;PDE10_HUMAN	Q	547;575;557;547;546	ENSP00000355847:L547Q;ENSP00000438284:L575Q;ENSP00000346435:L547Q	ENSP00000341187:L557Q	L	-	2	0	PDE10A	165721919	1.000000	0.71417	0.997000	0.53966	0.889000	0.51656	8.620000	0.90943	2.257000	0.74773	0.460000	0.39030	CTG		0.473	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			16	75	0	0	0	0.00499	0	16	75				
ERMARD	55780	broad.mit.edu	37	6	170160823	170160823	+	Silent	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:170160823A>G	ENST00000366773.3	+	8	861	c.828A>G	c.(826-828)gaA>gaG	p.E276E	ERMARD_ENST00000366772.2_Silent_p.E276E|ERMARD_ENST00000392095.4_Silent_p.E150E|ERMARD_ENST00000418781.3_Silent_p.E276E|ERMARD_ENST00000588451.1_Silent_p.E150E	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	276				E -> G (in Ref. 1; BAA92035). {ECO:0000305}.	multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.E276E(1)									CATATTGGGAAGTTGCACTGG	0.378																																							uc003qxg.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(826-828)GAA>GAG		hypothetical protein LOC55780							91.0	87.0	88.0					6																	170160823		2203	4300	6503	SO:0001819	synonymous_variant	55780					integral to membrane		g.chr6:170160823A>G	AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.828A>G	6.37:g.170160823A>G						C6orf70_uc011ehb.1_Silent_p.E150E|C6orf70_uc003qxh.1_Silent_p.E276E|C6orf70_uc010kky.1_Silent_p.E150E	p.E276E	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)	8	861	+		Breast(66;5.08e-05)|Ovarian(120;0.208)	276	E -> G (in Ref. 1; BAA92035).				B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Silent	SNP	ENST00000366773.3	37	c.828A>G	CCDS34576.1																																																																																				0.378	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043238.2	NM_018341		5	23	0	0	0	0.000602	0	5	23				
FERD3L	222894	broad.mit.edu	37	7	19184867	19184867	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:19184867C>A	ENST00000275461.3	-	1	177	c.119G>T	c.(118-120)gGg>gTg	p.G40V	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	40					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G40V(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GGCTGGGTCCCCCAAGGAGAC	0.662																																							uc003suo.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(118-120)GGG>GTG		nephew of atonal 3							42.0	37.0	39.0					7																	19184867		2203	4299	6502	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184867C>A	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.119G>T	7.37:g.19184867C>A	ENSP00000275461:p.Gly40Val					uc003sun.1_RNA	p.G40V	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN			1	178	-			40					Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.119G>T	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	C	5.568	0.289578	0.10567	.	.	ENSG00000146618	ENST00000275461	D	0.96491	-4.03	5.39	4.5	0.54988	.	0.921560	0.09229	N	0.830776	D	0.93086	0.7799	L	0.29908	0.895	0.27734	N	0.944714	P	0.41366	0.747	B	0.42030	0.373	D	0.84894	0.0838	10	0.16896	T	0.51	-6.964	11.5802	0.50887	0.0:0.8547:0.0:0.1453	.	40	Q96RJ6	FER3L_HUMAN	V	40	ENSP00000275461:G40V	ENSP00000275461:G40V	G	-	2	0	FERD3L	19151392	0.001000	0.12720	0.093000	0.20910	0.009000	0.06853	0.625000	0.24477	1.252000	0.44001	0.650000	0.86243	GGG		0.662	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1			7	35	1	0	1.12685e-05	0.004482	1.36319e-05	7	35				
ABCB5	340273	broad.mit.edu	37	7	20721275	20721275	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:20721275C>T	ENST00000404938.2	+	15	2507	c.1855C>T	c.(1855-1857)Ctt>Ttt	p.L619F	ABCB5_ENST00000258738.6_Missense_Mutation_p.L174F	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	619	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	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)|efflux transmembrane transporter activity (GO:0015562)	p.L619F(1)|p.L174F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATATTATTCACTTGTGATGTC	0.393																																							uc003suw.3		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(520-522)CTT>TTT		ATP-binding cassette, sub-family B, member 5							152.0	129.0	136.0					7																	20721275		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20721275C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1855C>T	7.37:g.20721275C>T	ENSP00000384881:p.Leu619Phe					ABCB5_uc010kuh.2_Missense_Mutation_p.L619F	p.L174F	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			6	1066	+			174			ABC transporter 1.|Extracellular (Potential).		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.520C>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.597733	0.28445	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.91792	-2.91;-2.91	4.54	4.54	0.55810	ABC transporter-like (1);	0.126644	0.33364	N	0.004990	D	0.93815	0.8022	L	0.41492	1.28	0.46356	D	0.999004	D;B	0.89917	1.0;0.075	D;B	0.83275	0.996;0.1	D	0.94097	0.7358	10	0.87932	D	0	.	15.6102	0.76710	0.0:1.0:0.0:0.0	.	619;174	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	F	619;174	ENSP00000384881:L619F;ENSP00000258738:L174F	ENSP00000258738:L174F	L	+	1	0	ABCB5	20687800	1.000000	0.71417	0.999000	0.59377	0.232000	0.25224	6.169000	0.71913	2.814000	0.96858	0.563000	0.77884	CTT		0.393	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		7	43	0	0	0	0.001984	0	7	43				
KIAA0895	23366	broad.mit.edu	37	7	36429683	36429683	+	Start_Codon_SNP	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:36429683T>A	ENST00000297063.6	-	1	51	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	ANLN_ENST00000265748.2_Intron|ANLN_ENST00000396068.2_Intron	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	1								p.M1L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CAGCCAGCCATGACCCACCGC	0.642																																							uc003tfd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1-3)ATG>TTG		hypothetical protein LOC23366 isoform 1							63.0	57.0	59.0					7																	36429683		2203	4300	6503	SO:0001582	initiator_codon_variant	23366							g.chr7:36429683T>A	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.1A>T	7.37:g.36429683T>A	ENSP00000297063:p.Met1Leu					ANLN_uc003tff.2_Intron|ANLN_uc011kaz.1_Intron|ANLN_uc003tfg.2_Intron|ANLN_uc010kxe.2_Intron	p.M1L	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN			1	52	-			1					B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	c.1A>T	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.593214	0.66219	.	.	ENSG00000164542	ENST00000297063;ENST00000429651	.	.	.	3.32	0.796	0.18648	.	.	.	.	.	T	0.42177	0.1191	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31861	-0.9928	7	0.87932	D	0	-5.6681	3.6688	0.08266	0.0:0.19:0.3513:0.4587	.	1	Q8NCT3	K0895_HUMAN	L	1	.	ENSP00000297063:M1L	M	-	1	0	KIAA0895	36396208	0.125000	0.22332	0.582000	0.28627	0.705000	0.40729	1.447000	0.35101	0.161000	0.19458	0.383000	0.25322	ATG		0.642	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314	Missense_Mutation	6	48	0	0	0	0.001984	0	6	48				
FIGNL1	63979	broad.mit.edu	37	7	50513772	50513772	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:50513772C>A	ENST00000419119.1	-	2	2767	c.1214G>T	c.(1213-1215)gGa>gTa	p.G405V	FIGNL1_ENST00000433017.1_Missense_Mutation_p.G405V|FIGNL1_ENST00000395556.2_Missense_Mutation_p.G405V|FIGNL1_ENST00000356889.4_Missense_Mutation_p.G405V			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	405					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)	p.G405V(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AAATTCTACTCCTGCAATATC	0.413																																							uc003tpc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1213-1215)GGA>GTA		fidgetin-like 1							118.0	132.0	127.0					7																	50513772		2203	4300	6503	SO:0001583	missense	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50513772C>A	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.1214G>T	7.37:g.50513772C>A	ENSP00000410811:p.Gly405Val					FIGNL1_uc003tpb.2_Missense_Mutation_p.G294V|FIGNL1_uc003tpd.2_Missense_Mutation_p.G405V|FIGNL1_uc003tpe.2_Missense_Mutation_p.G405V|FIGNL1_uc010kyy.2_Missense_Mutation_p.G405V	p.G405V	NM_001042762	NP_001036227	Q6PIW4	FIGL1_HUMAN			4	1591	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	405					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Missense_Mutation	SNP	ENST00000419119.1	37	c.1214G>T	CCDS5510.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.355033	0.82243	.	.	ENSG00000132436	ENST00000356889;ENST00000395556;ENST00000433017;ENST00000419119	D;D;D;D	0.97328	-4.34;-4.34;-4.34;-4.34	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.98988	0.9655	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99342	1.0912	10	0.87932	D	0	-16.4901	19.4659	0.94939	0.0:1.0:0.0:0.0	.	405	Q6PIW4	FIGL1_HUMAN	V	405	ENSP00000349356:G405V;ENSP00000378924:G405V;ENSP00000399997:G405V;ENSP00000410811:G405V	ENSP00000349356:G405V	G	-	2	0	FIGNL1	50481266	1.000000	0.71417	0.970000	0.41538	0.960000	0.62799	7.818000	0.86416	2.840000	0.97914	0.655000	0.94253	GGA		0.413	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		39	156	1	0	4.32679e-17	0.006999	7.19295e-17	39	156				
ZNF716	441234	broad.mit.edu	37	7	57522834	57522834	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:57522834C>A	ENST00000420713.1	+	3	334	c.222C>A	c.(220-222)ccC>ccA	p.P74P		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P74P(2)		breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATAAAGAGCCCCAGAATATAA	0.403																																							uc011kdi.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(220-222)CCC>CCA		zinc finger protein 716							92.0	73.0	79.0					7																	57522834		692	1591	2283	SO:0001819	synonymous_variant	441234							g.chr7:57522834C>A	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.222C>A	7.37:g.57522834C>A							p.P74P	NM_001159279	NP_001152751					3	334	+									Silent	SNP	ENST00000420713.1	37	c.222C>A	CCDS55112.1																																																																																				0.403	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		23	141	1	0	1.77063e-15	0.005443	2.87935e-15	23	141				
Unknown	0	broad.mit.edu	37	7	75130743	75130743	+	IGR	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:75130743C>A								POM121C (15195 upstream) : PMS2P3 (6331 downstream)																							ACATCTTCCACTTCCTGTATG	0.552																																							uc011kfy.1		NA																	0					0						c.(691-693)CAC>CAA		speedy homolog E5							74.0	83.0	80.0					7																	75130743		1478	2653	4131	SO:0001628	intergenic_variant	442590							g.chr7:75130743C>A																													7.37:g.75130743C>A							p.H231Q	NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN			5	829	+			231						Missense_Mutation	SNP		37	c.693C>A																																																																																				0	0.552									46	127	1	0	3.61411e-23	0.00361	6.25727e-23	46	127				
HGF	3082	broad.mit.edu	37	7	81388097	81388097	+	Missense_Mutation	SNP	C	C	G	rs189052337		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:81388097C>G	ENST00000222390.5	-	3	504	c.278G>C	c.(277-279)aGa>aCa	p.R93T	HGF_ENST00000423064.2_Missense_Mutation_p.R93T|HGF_ENST00000354224.6_Missense_Mutation_p.R93T|HGF_ENST00000453018.1_5'UTR|HGF_ENST00000453411.1_Missense_Mutation_p.R93T|HGF_ENST00000444829.2_Missense_Mutation_p.R93T|HGF_ENST00000457544.2_Missense_Mutation_p.R93T	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	93	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)	p.R93T(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCATTGTTTTCTTGCTTTATC	0.328													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14559	0.0		0.0	False		,,,				2504	0.0						uc003uhl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(277-279)AGA>ACA		hepatocyte growth factor isoform 1		C	THR/ARG,THR/ARG,THR/ARG,THR/ARG,THR/ARG	1,4405	2.1+/-5.4	0,1,2202	84.0	84.0	84.0		278,278,278,278,278	-0.8	1.0	7		84	0,8598		0,0,4299	no	missense,missense,missense,missense,missense	HGF	NM_000601.4,NM_001010931.1,NM_001010932.1,NM_001010933.1,NM_001010934.1	71,71,71,71,71	0,1,6501	GG,GC,CC		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	93/729,93/291,93/724,93/286,93/211	81388097	1,13003	2203	4299	6502	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81388097C>G		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.278G>C	7.37:g.81388097C>G	ENSP00000222390:p.Arg93Thr					HGF_uc003uhm.2_Missense_Mutation_p.R93T|HGF_uc003uhn.1_Missense_Mutation_p.R93T|HGF_uc003uho.1_Missense_Mutation_p.R93T|HGF_uc003uhp.2_Missense_Mutation_p.R93T	p.R93T	NM_000601	NP_000592	P14210	HGF_HUMAN			3	443	-			93			PAN.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.278G>C	CCDS5597.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.911	0.352218	0.11182	2.27E-4	0.0	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000412881;ENST00000421558	D;D;D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.33	-0.749	0.11084	PAN-1 domain (1);Apple-like (2);	0.550372	0.21308	N	0.076681	T	0.61565	0.2357	N	0.03115	-0.41	0.21527	N	0.999651	B;B;B;B;B	0.15930	0.015;0.0;0.0;0.0;0.0	B;B;B;B;B	0.13407	0.009;0.002;0.001;0.001;0.001	T	0.49826	-0.8898	10	0.18276	T	0.48	.	0.5527	0.00665	0.213:0.2388:0.1607:0.3876	.	128;93;93;93;93	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	T	93	ENSP00000222390:R93T;ENSP00000391238:R93T;ENSP00000389854:R93T;ENSP00000408270:R93T;ENSP00000413829:R93T;ENSP00000346164:R93T;ENSP00000396307:R93T;ENSP00000388592:R93T	ENSP00000222390:R93T	R	-	2	0	HGF	81226033	0.818000	0.29161	0.961000	0.40146	0.672000	0.39443	0.153000	0.16323	0.150000	0.19136	0.591000	0.81541	AGA		0.328	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		4	100	0	0	0	0.000602	0	4	100				
PCLO	27445	broad.mit.edu	37	7	82585417	82585417	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:82585417T>C	ENST00000333891.9	-	5	5189	c.4852A>G	c.(4852-4854)Agc>Ggc	p.S1618G	PCLO_ENST00000423517.2_Missense_Mutation_p.S1618G	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.S1618G(2)|p.S1549G(1)		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						TCATCAATGCTTGTGCTACTT	0.408																																							uc003uhx.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(4852-4854)AGC>GGC		piccolo isoform 1							309.0	297.0	301.0					7																	82585417		2077	4205	6282	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585417T>C	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.4852A>G	7.37:g.82585417T>C	ENSP00000334319:p.Ser1618Gly					PCLO_uc003uhv.2_Missense_Mutation_p.S1618G	p.S1618G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	5141	-			1549						Missense_Mutation	SNP	ENST00000333891.9	37	c.4852A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	6.074	0.382033	0.11524	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16743	2.32;2.32	5.26	4.1	0.47936	.	.	.	.	.	T	0.10637	0.0260	N	0.16602	0.42	0.80722	D	1	B;B	0.16166	0.016;0.016	B;B	0.19148	0.024;0.024	T	0.08659	-1.0711	9	0.87932	D	0	.	7.3377	0.26619	0.0:0.2217:0.0:0.7783	.	1618;1618	Q9Y6V0-5;Q9Y6V0-6	.;.	G	1549;1618;1618	ENSP00000334319:S1618G;ENSP00000388393:S1618G	ENSP00000334319:S1618G	S	-	1	0	PCLO	82423353	0.949000	0.32298	0.130000	0.21974	0.895000	0.52256	1.681000	0.37618	0.844000	0.35094	0.533000	0.62120	AGC		0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		9	376	0	0	0	0.006214	0	9	376				
PCLO	27445	broad.mit.edu	37	7	82595231	82595231	+	Silent	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:82595231T>A	ENST00000333891.9	-	4	4210	c.3873A>T	c.(3871-3873)ccA>ccT	p.P1291P	PCLO_ENST00000423517.2_Silent_p.P1291P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.P1291P(2)|p.P1230P(1)		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						TCTTGGTCTGTGGTTGTTTCC	0.408																																							uc003uhx.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(7)	7						c.(3871-3873)CCA>CCT		piccolo isoform 1							217.0	209.0	211.0					7																	82595231		1947	4152	6099	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.chr7:82595231T>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3873A>T	7.37:g.82595231T>A						PCLO_uc003uhv.2_Silent_p.P1291P	p.P1291P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	4162	-			1230						Silent	SNP	ENST00000333891.9	37	c.3873A>T	CCDS47630.1																																																																																				0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		40	148	0	0	0	0.00623	0	40	148				
FZD1	8321	broad.mit.edu	37	7	90896045	90896045	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:90896045C>T	ENST00000287934.2	+	1	2263	c.1850C>T	c.(1849-1851)tCg>tTg	p.S617L		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	617					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S617L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGCATCACGTCGGGCTTCTGG	0.607																																							uc003ula.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1849-1851)TCG>TTG		frizzled 1 precursor							40.0	44.0	43.0					7																	90896045		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90896045C>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1850C>T	7.37:g.90896045C>T	ENSP00000287934:p.Ser617Leu						p.S617L	NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	2263	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		617			Helical; Name=7; (Potential).		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1850C>T	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281556	0.80692	.	.	ENSG00000157240	ENST00000287934	D	0.83837	-1.77	4.91	4.91	0.64330	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000015	D	0.92896	0.7740	M	0.91920	3.255	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.94191	0.7441	10	0.87932	D	0	.	18.6493	0.91425	0.0:1.0:0.0:0.0	.	617	Q9UP38	FZD1_HUMAN	L	617	ENSP00000287934:S617L	ENSP00000287934:S617L	S	+	2	0	FZD1	90733981	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	7.640000	0.83355	2.709000	0.92574	0.655000	0.94253	TCG		0.607	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		8	59	0	0	0	0.00308	0	8	59				
ZSCAN25	221785	broad.mit.edu	37	7	99219026	99219026	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:99219026G>A	ENST00000394152.2	+	5	745	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	ZSCAN25_ENST00000466948.1_3'UTR|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.E140K|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.E140K	NM_145115.2	NP_660090.2	Q6NSZ9	ZSC25_HUMAN	zinc finger and SCAN domain containing 25	140					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E140K(1)									AGAGCAGGAGGAAACAGCACT	0.567																																							uc003url.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(418-420)GAA>AAA		zinc finger and SCAN domain containing 25							76.0	75.0	75.0					7																	99219026		2203	4300	6503	SO:0001583	missense	221785				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99219026G>A	AK057030	CCDS5671.2	7q22.1	2013-01-09	2013-01-09	2013-01-09	ENSG00000197037	ENSG00000197037		"""-"", ""Zinc fingers, C2H2-type"""	21961	protein-coding gene	gene with protein product			"""zinc finger protein 498"""	ZNF498		11179890	Standard	XM_005250194		Approved	FLJ32468	uc003url.1	Q6NSZ9	OTTHUMG00000074055	ENST00000394152.2:c.418G>A	7.37:g.99219026G>A	ENSP00000377708:p.Glu140Lys					ZNF498_uc003urm.1_5'UTR|ZNF498_uc010lge.1_5'UTR|ZNF498_uc003urn.2_RNA|ZNF498_uc010lgf.1_Missense_Mutation_p.E140K|ZNF498_uc003uro.1_5'UTR	p.E140K	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN			5	745	+	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		140					A4D290|D6W5T5|Q14C82|Q14C99|Q5EBM9|Q6DJZ0|Q6N032|Q6ZML3	Missense_Mutation	SNP	ENST00000394152.2	37	c.418G>A	CCDS5671.2	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367704	0.61513	.	.	ENSG00000197037	ENST00000394152;ENST00000334715;ENST00000262941	T;T;T	0.09163	3.08;3.08;3.01	5.08	4.2	0.49525	Transcription regulator SCAN (1);	0.318283	0.23258	N	0.050172	T	0.06188	0.0160	N	0.16656	0.425	0.26077	N	0.981149	B;B	0.10296	0.003;0.001	B;B	0.09377	0.004;0.003	T	0.37549	-0.9701	10	0.11485	T	0.65	-9.6607	10.1188	0.42607	0.0942:0.0:0.9058:0.0	.	140;140	Q6NSZ9-2;Q6NSZ9	.;ZN498_HUMAN	K	140	ENSP00000377708:E140K;ENSP00000334800:E140K;ENSP00000262941:E140K	ENSP00000262941:E140K	E	+	1	0	ZNF498	99056962	0.999000	0.42202	0.999000	0.59377	0.962000	0.63368	1.652000	0.37313	1.459000	0.47892	0.655000	0.94253	GAA		0.567	ZSCAN25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157203.4	NM_145115		6	112	0	0	0	0.001168	0	6	112				
OR2AE1	81392	broad.mit.edu	37	7	99474611	99474611	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:99474611C>A	ENST00000316368.2	-	1	69	c.46G>T	c.(46-48)Ggg>Tgg	p.G16W		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	16						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G16W(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCGAAGAGCCCCTCAAGGATG	0.498																																							uc003usc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(46-48)GGG>TGG		olfactory receptor, family 2, subfamily AE,							95.0	106.0	102.0					7																	99474611		2203	4300	6503	SO:0001583	missense	81392				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:99474611C>A	AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"""GPCR / Class A : Olfactory receptors"""	15087	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AE, member 2"""	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.46G>T	7.37:g.99474611C>A	ENSP00000313936:p.Gly16Trp						p.G16W	NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN			1	46	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)		16			Extracellular (Potential).		B2RPD2	Missense_Mutation	SNP	ENST00000316368.2	37	c.46G>T	CCDS34696.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876766	0.33162	.	.	ENSG00000244623	ENST00000316368	T	0.02323	4.34	3.63	2.73	0.32206	.	0.000000	0.41001	D	0.000974	T	0.22166	0.0534	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.15350	-1.0440	10	0.87932	D	0	.	10.5694	0.45192	0.1944:0.8056:0.0:0.0	.	16	Q8NHA4	O2AE1_HUMAN	W	16	ENSP00000313936:G16W	ENSP00000313936:G16W	G	-	1	0	OR2AE1	99312547	0.994000	0.37717	0.941000	0.38009	0.108000	0.19459	3.934000	0.56553	1.072000	0.40860	0.501000	0.49751	GGG		0.498	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			16	99	1	0	3.52763e-06	0.00499	4.37393e-06	16	99				
LRWD1	222229	broad.mit.edu	37	7	102108635	102108635	+	Splice_Site	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:102108635G>C	ENST00000292616.5	+	6	956		c.e6+1		MIR5090_ENST00000582533.1_RNA	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1						chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)	p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						TGGCAGCCAGGTGAGCTGAGG	0.682																																							uc003uzn.2		NA																	1	Unknown(1)		lung(1)	skin(1)	1						c.e6+1		leucine-rich repeats and WD repeat domain							54.0	55.0	55.0					7																	102108635		2198	4297	6495	SO:0001630	splice_region_variant	222229				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102108635G>C	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.804+1G>C	7.37:g.102108635G>C						LRWD1_uc003uzo.2_Splice_Site_p.Q116_splice	p.Q268_splice	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN			6	942	+								A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Splice_Site	SNP	ENST00000292616.5	37	c.804_splice	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884602	0.51908	.	.	ENSG00000161036	ENST00000292616	.	.	.	4.55	3.64	0.41730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6239	0.33877	0.1077:0.0:0.8923:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRWD1	101895640	1.000000	0.71417	0.994000	0.49952	0.468000	0.32798	3.563000	0.53784	2.361000	0.80049	0.462000	0.41574	.		0.682	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892	Intron	4	23	0	0	0	0.009096	0	4	23				
SLC26A3	1811	broad.mit.edu	37	7	107418628	107418628	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:107418628C>A	ENST00000340010.5	-	13	1690	c.1506G>T	c.(1504-1506)agG>agT	p.R502S	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R467S	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	502					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)	p.R502S(1)		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						ACAATTGGGTCCTGAACACGA	0.473																																							uc003ver.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1504-1506)AGG>AGT		solute carrier family 26, member 3							86.0	67.0	74.0					7																	107418628		2203	4300	6503	SO:0001583	missense	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.chr7:107418628C>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.1506G>T	7.37:g.107418628C>A	ENSP00000345873:p.Arg502Ser					SLC26A3_uc003ves.2_Missense_Mutation_p.R467S	p.R502S	NM_000111	NP_000102	P40879	S26A3_HUMAN			13	1717	-			502						Missense_Mutation	SNP	ENST00000340010.5	37	c.1506G>T	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706306	0.68615	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.94723	-3.43;-3.5	5.81	4.02	0.46733	.	0.119814	0.64402	D	0.000004	D	0.96959	0.9007	M	0.92923	3.36	0.51767	D	0.999937	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94984	0.8128	10	0.72032	D	0.01	.	2.514	0.04663	0.2273:0.4949:0.1307:0.147	.	467;502	G5E9U3;P40879	.;S26A3_HUMAN	S	467;502	ENSP00000415817:R467S;ENSP00000345873:R502S	ENSP00000345873:R502S	R	-	3	2	SLC26A3	107205864	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.587000	0.23909	0.808000	0.34231	0.655000	0.94253	AGG		0.473	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111		4	29	1	0	0.00909568	0.009096	0.00961122	4	29				
EIF3IP1	442720	broad.mit.edu	37	7	109599839	109599839	+	IGR	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:109599839C>T								AC073071.1 (362616 upstream) : AC003088.1 (472456 downstream)																							AGGTAGCACTCATTGCTGTCA	0.493																																							uc003vfp.1		NA																	0					0						c.(259-261)GAG>AAG		Homo sapiens eukaryotic translation initiation factor 3, subunit I pseudogene 1 (EIF3IP1), non-coding RNA.																																				SO:0001628	intergenic_variant	442720							g.chr7:109599839C>T																													7.37:g.109599839C>T							p.E87K	NR_003024						1	432	-									Missense_Mutation	SNP		37	c.259G>A																																																																																				0	0.493									6	43	0	0	0	0.001168	0	6	43				
PPP1R3A	5506	broad.mit.edu	37	7	113517986	113517986	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:113517986A>G	ENST00000284601.3	-	4	3229	c.3161T>C	c.(3160-3162)cTt>cCt	p.L1054P		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1054					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.L1054P(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTCAACAGGAAGACTAGTAGA	0.363																																							uc010ljy.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(3160-3162)CTT>CCT		protein phosphatase 1, regulatory (inhibitor)							175.0	174.0	174.0					7																	113517986		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113517986A>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3161T>C	7.37:g.113517986A>G	ENSP00000284601:p.Leu1054Pro						p.L1054P	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	3192	-			1054					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.3161T>C	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	A	0.160	-1.082656	0.01888	.	.	ENSG00000154415	ENST00000284601	T	0.20069	2.1	5.44	4.14	0.48551	.	0.875437	0.09840	N	0.748950	T	0.23171	0.0560	M	0.62723	1.935	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.26608	-1.0098	10	0.56958	D	0.05	1.4476	6.3508	0.21375	0.7824:0.0:0.0806:0.1371	.	1054	Q16821	PPR3A_HUMAN	P	1054	ENSP00000284601:L1054P	ENSP00000284601:L1054P	L	-	2	0	PPP1R3A	113305222	0.003000	0.15002	0.002000	0.10522	0.042000	0.13812	1.779000	0.38624	0.751000	0.32900	0.528000	0.53228	CTT		0.363	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		27	181	0	0	0	0.005443	0	27	181				
MDFIC	29969	broad.mit.edu	37	7	114655879	114655879	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:114655879G>A	ENST00000393486.1	+	5	1221	c.631G>A	c.(631-633)Gat>Aat	p.D211N	MDFIC_ENST00000257724.3_Missense_Mutation_p.D320N	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing									p.D320N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						GATGGGGGATGATTGTAACTG	0.488																																							uc003vhf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(958-960)GAT>AAT		MyoD family inhibitor domain containing protein							323.0	289.0	301.0					7																	114655879		2203	4300	6503	SO:0001583	missense	29969				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleolus|nucleus	cyclin binding|Tat protein binding	g.chr7:114655879G>A	AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.631G>A	7.37:g.114655879G>A	ENSP00000377126:p.Asp211Asn						p.D320N	NM_199072	NP_951038	Q9P1T7	MDFIC_HUMAN			5	1221	+			211			Cys-rich.			Missense_Mutation	SNP	ENST00000393486.1	37	c.958G>A	CCDS55155.1	.	.	.	.	.	.	.	.	.	.	G	35	5.483510	0.96307	.	.	ENSG00000135272	ENST00000257724;ENST00000393486	.	.	.	5.77	5.77	0.91146	.	0.103832	0.64402	D	0.000006	T	0.78717	0.4327	M	0.79258	2.445	0.80722	D	1	D	0.63046	0.992	P	0.59357	0.856	T	0.80122	-0.1514	9	0.66056	D	0.02	-10.1216	19.9915	0.97366	0.0:0.0:1.0:0.0	.	211	Q9P1T7	MDFIC_HUMAN	N	320;211	.	ENSP00000257724:D320N	D	+	1	0	MDFIC	114443115	1.000000	0.71417	0.994000	0.49952	0.928000	0.56348	9.476000	0.97823	2.723000	0.93209	0.655000	0.94253	GAT		0.488	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059968.4	NM_199072		14	236	0	0	0	0.00245	0	14	236				
CFTR	1080	broad.mit.edu	37	7	117243607	117243607	+	Silent	SNP	G	G	T	rs397508419		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:117243607G>T	ENST00000003084.6	+	17	2811	c.2679G>T	c.(2677-2679)ggG>ggT	p.G893G	CFTR_ENST00000454343.1_Silent_p.G832G|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	893	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.G893G(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AAGACAAAGGGAATAGTACTC	0.378									Cystic Fibrosis																														uc003vjd.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)	5	GRCh37	CS021743	CFTR	S		c.(2677-2679)GGG>GGT		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						129.0	115.0	120.0					7																	117243607		2203	4300	6503	SO:0001819	synonymous_variant	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117243607G>T	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2679G>T	7.37:g.117243607G>T						CFTR_uc011knq.1_Silent_p.G299G	p.G893G	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		17	2811	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		893			ABC transmembrane type-1 2.|Extracellular (Potential).		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Silent	SNP	ENST00000003084.6	37	c.2679G>T	CCDS5773.1																																																																																				0.378	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		14	52	1	0	2.31682e-05	0.003163	2.75172e-05	14	52				
ANKRD7	56311	broad.mit.edu	37	7	117874821	117874821	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:117874821A>T	ENST00000265224.4	+	3	516	c.361A>T	c.(361-363)Agg>Tgg	p.R121W	ANKRD7_ENST00000417525.1_Missense_Mutation_p.R68W|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000357099.4_Missense_Mutation_p.R141W|ANKRD7_ENST00000433239.1_Missense_Mutation_p.R68W	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	121					male gonad development (GO:0008584)	nucleus (GO:0005634)		p.R141W(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						CCCAGATCTGAGGGATATTCG	0.378																																							uc003vji.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(361-363)AGG>TGG		ankyrin repeat domain 7							223.0	206.0	211.0					7																	117874821		1866	4104	5970	SO:0001583	missense	56311				male gonad development			g.chr7:117874821A>T	D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.361A>T	7.37:g.117874821A>T	ENSP00000265224:p.Arg121Trp						p.R121W	NM_019644	NP_062618	Q92527	ANKR7_HUMAN			3	534	+			121					B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	c.361A>T	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.028869	0.54790	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	4.9	-1.98	0.07480	Ankyrin repeat-containing domain (4);	2.167110	0.02978	N	0.145332	T	0.71953	0.3401	M	0.88775	2.98	0.09310	N	1	P	0.51240	0.943	B	0.43251	0.413	T	0.63839	-0.6546	10	0.87932	D	0	1.3957	6.773	0.23604	0.3344:0.1154:0.5502:0.0	.	121	Q92527	ANKR7_HUMAN	W	141;121;68;68	ENSP00000349612:R141W;ENSP00000265224:R121W;ENSP00000395595:R68W;ENSP00000388473:R68W	ENSP00000265224:R121W	R	+	1	2	ANKRD7	117662057	0.291000	0.24352	0.000000	0.03702	0.000000	0.00434	0.784000	0.26816	-0.691000	0.05135	-0.256000	0.11100	AGG		0.378	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708		11	111	0	0	0	0.010729	0	11	111				
KCND2	3751	broad.mit.edu	37	7	119915484	119915484	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:119915484C>A	ENST00000331113.4	+	1	1763	c.798C>A	c.(796-798)gaC>gaA	p.D266E		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	266					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.D266E(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GTATCATCGACGTGGTGGCCA	0.532																																							uc003vjj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(796-798)GAC>GAA		potassium voltage-gated channel, Shal-related							180.0	148.0	159.0					7																	119915484		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:119915484C>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.798C>A	7.37:g.119915484C>A	ENSP00000333496:p.Asp266Glu						p.D266E	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			1	1763	+	all_neural(327;0.117)		266			Helical; Name=Segment S3; (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.798C>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767657	0.69878	.	.	ENSG00000184408	ENST00000331113	D	0.99270	-5.66	5.57	-5.9	0.02275	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99444	0.9803	H	0.95470	3.675	0.42707	D	0.993636	D	0.89917	1.0	D	0.97110	1.0	D	0.99338	1.0911	9	.	.	.	.	16.2055	0.82126	0.0:0.2502:0.0:0.7498	.	266	Q9NZV8	KCND2_HUMAN	E	266	ENSP00000333496:D266E	.	D	+	3	2	KCND2	119702720	0.030000	0.19436	0.816000	0.32577	0.990000	0.78478	-0.707000	0.05041	-1.201000	0.02659	0.557000	0.71058	GAC		0.532	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		9	59	1	0	7.48243e-07	0.006214	9.59663e-07	9	59				
LMOD2	442721	broad.mit.edu	37	7	123302675	123302675	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:123302675G>A	ENST00000458573.2	+	2	1192	c.1035G>A	c.(1033-1035)acG>acA	p.T345T	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	345						cytoskeleton (GO:0005856)		p.T345T(1)									TGAGCATGACGAGCATTTTGA	0.478																																							uc003vky.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1033-1035)ACG>ACA		leiomodin 2 (cardiac)							118.0	112.0	114.0					7																	123302675		2019	4186	6205	SO:0001819	synonymous_variant	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123302675G>A	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.1035G>A	7.37:g.123302675G>A							p.T345T	NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN			2	1192	+			345					A4D0W9|A4D0Y2|Q8WVJ8	Silent	SNP	ENST00000458573.2	37	c.1035G>A	CCDS47693.1																																																																																				0.478	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			6	124	0	0	0	0.001168	0	6	124				
GCC1	79571	broad.mit.edu	37	7	127223074	127223074	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:127223074C>A	ENST00000321407.2	-	2	1746	c.1322G>T	c.(1321-1323)aGg>aTg	p.R441M	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	441					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.R441M(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTGCAGCAGCCTCTTCAGCTT	0.567																																							uc003vma.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1321-1323)AGG>ATG		Golgi coiled-coil protein 1							99.0	104.0	102.0					7																	127223074		2203	4300	6503	SO:0001583	missense	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127223074C>A	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1322G>T	7.37:g.127223074C>A	ENSP00000318821:p.Arg441Met						p.R441M	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			2	1740	-			441			Potential.		Q9H6N7	Missense_Mutation	SNP	ENST00000321407.2	37	c.1322G>T	CCDS5796.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623411	0.28889	.	.	ENSG00000179562	ENST00000321407	T	0.12361	2.69	5.12	3.28	0.37604	.	0.233607	0.45126	D	0.000390	T	0.11495	0.0280	L	0.40543	1.245	0.33706	D	0.615147	P	0.36789	0.57	B	0.36885	0.235	T	0.16041	-1.0416	10	0.49607	T	0.09	-8.8107	8.3393	0.32235	0.0:0.8148:0.0:0.1852	.	441	Q96CN9	GCC1_HUMAN	M	441	ENSP00000318821:R441M	ENSP00000318821:R441M	R	-	2	0	GCC1	127010310	0.998000	0.40836	0.970000	0.41538	0.687000	0.40016	0.901000	0.28445	0.642000	0.30620	0.655000	0.94253	AGG		0.567	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		42	153	1	0	1.00001e-27	0.009718	1.76353e-27	42	153				
LRGUK	136332	broad.mit.edu	37	7	133821833	133821833	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:133821833G>T	ENST00000285928.2	+	2	424	c.355G>T	c.(355-357)Ggg>Tgg	p.G119W	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	119						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.G119W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CCATCACTTGGGGCGCTCAGG	0.473																																							uc003vrm.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|kidney(1)	5						c.(355-357)GGG>TGG		leucine-rich repeats and guanylate kinase domain							75.0	71.0	72.0					7																	133821833		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133821833G>T	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.355G>T	7.37:g.133821833G>T	ENSP00000285928:p.Gly119Trp						p.G119W	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			2	371	+			119					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.355G>T	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019684	0.54576	.	.	ENSG00000155530	ENST00000285928	T	0.44083	0.93	4.99	4.99	0.66335	.	0.096119	0.45867	D	0.000336	T	0.68265	0.2982	M	0.82323	2.585	0.48395	D	0.999645	D	0.89917	1.0	D	0.97110	1.0	T	0.74340	-0.3697	10	0.87932	D	0	-15.2211	17.0657	0.86558	0.0:0.0:1.0:0.0	.	119	Q96M69	LRGUK_HUMAN	W	119	ENSP00000285928:G119W	ENSP00000285928:G119W	G	+	1	0	LRGUK	133472373	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	6.718000	0.74713	2.319000	0.78375	0.650000	0.86243	GGG		0.473	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		15	32	1	0	1.52009e-12	0.003163	2.32694e-12	15	32				
ATP6V0A4	50617	broad.mit.edu	37	7	138413517	138413517	+	Missense_Mutation	SNP	G	G	A	rs150175783		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:138413517G>A	ENST00000310018.2	-	18	2281	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.R667W|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.R667W	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	667					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.R667W(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGGGATTTCCGATGACTGGCT	0.433													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18999	0.0		0.0	False		,,,				2504	0.0						uc003vuf.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1999-2001)CGG>TGG		ATPase, H+ transporting, lysosomal V0 subunit		G	TRP/ARG,TRP/ARG,TRP/ARG	4,4402	9.9+/-24.2	0,4,2199	193.0	195.0	194.0		1999,1999,1999	4.8	0.3	7	dbSNP_134	194	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	ATP6V0A4	NM_020632.2,NM_130840.2,NM_130841.2	101,101,101	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	probably-damaging,probably-damaging,probably-damaging	667/841,667/841,667/841	138413517	5,13001	2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138413517G>A	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1999C>T	7.37:g.138413517G>A	ENSP00000308122:p.Arg667Trp					ATP6V0A4_uc003vug.2_Missense_Mutation_p.R667W|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.R667W	p.R667W	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			17	2237	-			667			Cytoplasmic (Potential).		A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.1999C>T	CCDS5849.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.51	3.143073	0.57044	9.08E-4	1.16E-4	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.86164	-2.08;-2.08;-2.08	5.68	4.77	0.60923	.	0.519646	0.19603	N	0.110340	D	0.91236	0.7238	M	0.82517	2.595	0.30083	N	0.808985	D	0.76494	0.999	P	0.56788	0.806	D	0.88640	0.3175	10	0.87932	D	0	-12.4879	9.4639	0.38800	0.0713:0.0:0.7853:0.1435	.	667	Q9HBG4	VPP4_HUMAN	W	667	ENSP00000308122:R667W;ENSP00000376774:R667W;ENSP00000253856:R667W	ENSP00000308122:R667W	R	-	1	2	ATP6V0A4	138064057	0.989000	0.36119	0.307000	0.25127	0.296000	0.27459	3.154000	0.50693	2.679000	0.91253	0.650000	0.86243	CGG		0.433	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		12	289	0	0	0	0.001368	0	12	289				
ATP6V0A4	50617	broad.mit.edu	37	7	138417828	138417828	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:138417828T>C	ENST00000310018.2	-	17	1984	c.1702A>G	c.(1702-1704)Aga>Gga	p.R568G	ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.R568G|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.R568G	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	568					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)	p.R568G(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTGAGAGTTCTTCTGAAGTAT	0.378																																							uc003vuf.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1702-1704)AGA>GGA		ATPase, H+ transporting, lysosomal V0 subunit							98.0	94.0	96.0					7																	138417828		2203	4300	6503	SO:0001583	missense	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138417828T>C	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.1702A>G	7.37:g.138417828T>C	ENSP00000308122:p.Arg568Gly					ATP6V0A4_uc003vug.2_Missense_Mutation_p.R568G|ATP6V0A4_uc003vuh.2_Missense_Mutation_p.R568G	p.R568G	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			16	1940	-			568			Lumenal (Potential).		A4D1R4|A8KA80|Q32M47	Missense_Mutation	SNP	ENST00000310018.2	37	c.1702A>G	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	T	14.87	2.664311	0.47572	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.86432	-2.12;-2.12;-2.12	5.75	3.31	0.37934	.	0.686242	0.14969	N	0.287943	D	0.86326	0.5906	M	0.62016	1.91	0.32791	N	0.501179	B	0.24675	0.109	B	0.30943	0.122	D	0.85278	0.1060	10	0.72032	D	0.01	-1.4748	12.9368	0.58319	0.0:0.0:0.2546:0.7454	.	568	Q9HBG4	VPP4_HUMAN	G	568	ENSP00000308122:R568G;ENSP00000376774:R568G;ENSP00000253856:R568G	ENSP00000308122:R568G	R	-	1	2	ATP6V0A4	138068368	0.996000	0.38824	0.021000	0.16686	0.977000	0.68977	3.989000	0.56958	0.404000	0.25506	0.533000	0.62120	AGA		0.378	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		10	33	0	0	0	0.008291	0	10	33				
AGK	55750	broad.mit.edu	37	7	141352626	141352626	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:141352626G>A	ENST00000355413.4	+	16	1431	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	AGK_ENST00000473247.1_Missense_Mutation_p.E363K|RP5-894A10.2_ENST00000467537.1_RNA	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	391					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.E391K(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TGAGGAGTATGAAGCGATGCC	0.527																																							uc003vwi.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1171-1173)GAA>AAA		acylglycerol kinase precursor							118.0	111.0	113.0					7																	141352626		2203	4300	6503	SO:0001583	missense	55750				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	g.chr7:141352626G>A	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.1171G>A	7.37:g.141352626G>A	ENSP00000347581:p.Glu391Lys						p.E391K	NM_018238	NP_060708	Q53H12	AGK_HUMAN			16	1342	+	Melanoma(164;0.0171)		391					Q75KN1|Q96GC3|Q9NP48	Missense_Mutation	SNP	ENST00000355413.4	37	c.1171G>A	CCDS5865.1	.	.	.	.	.	.	.	.	.	.	G	33	5.234730	0.95207	.	.	ENSG00000006530	ENST00000355413;ENST00000473247	T;T	0.14144	2.53;2.53	5.44	5.44	0.79542	.	0.042610	0.85682	N	0.000000	T	0.33381	0.0861	L	0.49126	1.545	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.00704	-1.1602	10	0.40728	T	0.16	.	19.2669	0.93990	0.0:0.0:1.0:0.0	.	391	Q53H12	AGK_HUMAN	K	391;363	ENSP00000347581:E391K;ENSP00000420776:E363K	ENSP00000347581:E391K	E	+	1	0	AGK	140999095	1.000000	0.71417	0.205000	0.23548	0.943000	0.58893	8.920000	0.92779	2.549000	0.85964	0.655000	0.94253	GAA		0.527	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		10	101	0	0	0	0.010729	0	10	101				
TRBV2	28620	broad.mit.edu	37	7	142001015	142001015	+	RNA	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:142001015A>T	ENST00000455382.2	+	0	181									T cell receptor beta variable 2																		CAGATGGGACAGGAAGTGATC	0.433																																							uc011kro.1		NA																	0					NA						c.(106-108)CAG>CTG		SubName: Full=V_segment translation product; Flags: Fragment;							39.0	38.0	39.0					7																	142001015		1935	4137	6072			0							g.chr7:142001015A>T	L36092		7q34	2012-02-07			ENSG00000226660	ENSG00000226660		"""T cell receptors / TRB locus"""	12195	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV22S1A2N1T, TCRBV2S1			OTTHUMG00000158532		7.37:g.142001015A>T							p.Q36L							2	152	+									Missense_Mutation	SNP	ENST00000455382.2	37	c.107A>T																																																																																					0.433	TRBV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351238.2	NG_001333		6	20	0	0	0	0.001984	0	6	20				
CTAGE6	340307	broad.mit.edu	37	7	143453488	143453488	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:143453488T>A	ENST00000470691.2	-	1	1301	c.1264A>T	c.(1264-1266)Aag>Tag	p.K422*	RNU6-267P_ENST00000516714.1_RNA	NM_178561.4	NP_848656.2	Q86UF2	CTGE6_HUMAN	CTAGE family, member 6	422						integral component of membrane (GO:0016021)						Melanoma(164;0.0903)					CGGCTGAGCTTTTCTTCCACT	0.378																																							uc003wdk.3		NA																	0					0						c.(1264-1266)AAG>TAG		CTAGE family, member 6							164.0	146.0	152.0					7																	143453488		1992	4188	6180	SO:0001587	stop_gained	340307					integral to membrane		g.chr7:143453488T>A	BC043153	CCDS64790.1	7q35	2013-05-22	2013-02-25	2013-02-25	ENSG00000271321	ENSG00000271321			28644	protein-coding gene	gene with protein product			"""CTAGE family, member 6, pseudogene"""	CTAGE6P		12477932	Standard	NM_178561		Approved	MGC41943	uc003wdk.4	Q86UF2	OTTHUMG00000157770	ENST00000470691.2:c.1264A>T	7.37:g.143453488T>A	ENSP00000474388:p.Lys422*					uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|LOC154761_uc003wdj.1_Intron	p.K422*	NM_178561	NP_848656	Q86UF2	CTGE6_HUMAN			1	1356	-	Melanoma(164;0.0903)		422			Potential.		A4FU29|Q3ZCM5	Nonsense_Mutation	SNP	ENST00000470691.2	37	c.1264A>T																																																																																					0.378	CTAGE6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349580.2	NM_178561		9	337	0	0	0	0.004482	0	9	337				
C7orf33	202865	broad.mit.edu	37	7	148311163	148311163	+	Silent	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:148311163G>T	ENST00000307003.2	+	2	595	c.234G>T	c.(232-234)cgG>cgT	p.R78R		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	78								p.R78R(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACATGAACCGGGGGATGGAAT	0.453																																							uc003wew.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(232-234)CGG>CGT		hypothetical protein LOC202865							87.0	86.0	86.0					7																	148311163		2203	4300	6503	SO:0001819	synonymous_variant	202865							g.chr7:148311163G>T	BC021251	CCDS5890.1	7q36.1	2011-11-24			ENSG00000170279	ENSG00000170279			21724	protein-coding gene	gene with protein product							Standard	NM_145304		Approved		uc003wew.3	Q8WU49	OTTHUMG00000152756	ENST00000307003.2:c.234G>T	7.37:g.148311163G>T							p.R78R	NM_145304	NP_660347	Q8WU49	CG033_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		2	595	+	Melanoma(164;0.15)		78						Silent	SNP	ENST00000307003.2	37	c.234G>T	CCDS5890.1																																																																																				0.453	C7orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327684.1	NM_145304		15	78	1	0	1.5739e-10	0.004007	2.30133e-10	15	78				
ZNF746	155061	broad.mit.edu	37	7	149174083	149174083	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:149174083G>A	ENST00000340622.3	-	6	1048	c.768C>T	c.(766-768)ctC>ctT	p.L256L	ZNF746_ENST00000458143.2_Silent_p.L256L			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	256					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.L256L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGTGGGGAGGGAGATCCGTTT	0.627																																							uc003wfw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(766-768)CTC>CTT		zinc finger protein 746 isoform 2							151.0	124.0	133.0					7																	149174083		2203	4300	6503	SO:0001819	synonymous_variant	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149174083G>A	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.768C>T	7.37:g.149174083G>A						ZNF746_uc010lpi.2_Silent_p.L256L	p.L256L	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		6	1039	-	Melanoma(164;0.165)		256					A8K6Z9|Q6ZRF9	Silent	SNP	ENST00000340622.3	37	c.768C>T	CCDS5897.1																																																																																				0.627	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		11	73	0	0	0	0.010729	0	11	73				
KMT2C	58508	broad.mit.edu	37	7	151878797	151878797	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr7:151878797G>A	ENST00000262189.6	-	36	6366	c.6148C>T	c.(6148-6150)Cct>Tct	p.P2050S	KMT2C_ENST00000355193.2_Missense_Mutation_p.P2050S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2050	Pro-rich.				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)	p.P2050S(2)									GAGGATGGAGGAGGTTGCATT	0.473																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(6148-6150)CCT>TCT		myeloid/lymphoid or mixed-lineage leukemia 3							90.0	90.0	90.0					7																	151878797		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.chr7:151878797G>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.6148C>T	7.37:g.151878797G>A	ENSP00000262189:p.Pro2050Ser					MLL3_uc003wkz.2_Missense_Mutation_p.P1111S	p.P2050S	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)	36	6367	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2050			Pro-rich.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.6148C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378457	0.24944	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.56941	0.43;0.43	5.4	3.51	0.40186	.	0.000000	0.44688	D	0.000422	T	0.42291	0.1196	L	0.32530	0.975	0.80722	D	1	B;P	0.48294	0.098;0.908	B;B	0.43916	0.03;0.436	T	0.19976	-1.0289	10	0.27785	T	0.31	.	11.5623	0.50785	0.0:0.2513:0.6186:0.1301	.	2050;1111	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	S	2050	ENSP00000262189:P2050S;ENSP00000347325:P2050S	ENSP00000262189:P2050S	P	-	1	0	MLL3	151509730	1.000000	0.71417	0.970000	0.41538	0.894000	0.52154	3.847000	0.55895	1.261000	0.44149	0.563000	0.77884	CCT		0.473	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			8	71	0	0	0	0.00308	0	8	71				
CSMD1	64478	broad.mit.edu	37	8	3087561	3087561	+	Splice_Site	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:3087561C>A	ENST00000520002.1	-	28	4904		c.e28+1		CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000539096.1_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000523387.1_Splice_Site|CSMD1_ENST00000400186.3_Splice_Site|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000602723.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral component of membrane (GO:0016021)		p.?(2)		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)		TTGTCTGATACCTATGCATGT	0.413																																							uc011kwk.1		NA																	2	Unknown(2)		lung(2)	breast(20)|large_intestine(5)	25						c.e27+1		CUB and Sushi multiple domains 1 precursor							88.0	84.0	85.0					8																	3087561		1882	4114	5996	SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:3087561C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4348+1G>T	8.37:g.3087561C>A						CSMD1_uc011kwj.1_Splice_Site_p.A842_splice|CSMD1_uc003wqe.2_Splice_Site_p.A606_splice	p.A1450_splice	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)	27	4738	-		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)						Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	ENST00000520002.1	37	c.4348_splice		.	.	.	.	.	.	.	.	.	.	C	16.39	3.109290	0.56398	.	.	ENSG00000183117	ENST00000335551;ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD1	3074968	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	7.634000	0.83273	2.831000	0.97527	0.650000	0.86243	.		0.413	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Intron	4	74	1	0	2.56e-06	0.009096	3.2046e-06	4	74				
RP1L1	94137	broad.mit.edu	37	8	10468347	10468347	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:10468347C>A	ENST00000382483.3	-	4	3484	c.3261G>T	c.(3259-3261)agG>agT	p.R1087S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1087					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.R1087S(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCATCAGCGCCCTCATGATCT	0.687																																							uc003wtc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(3259-3261)AGG>AGT		retinitis pigmentosa 1-like 1							25.0	29.0	28.0					8																	10468347		1924	4128	6052	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10468347C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3261G>T	8.37:g.10468347C>A	ENSP00000371923:p.Arg1087Ser						p.R1087S	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3490	-			1087					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.3261G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376954	0.24857	.	.	ENSG00000183638	ENST00000382483	T	0.77098	-1.07	4.74	2.78	0.32641	.	0.540491	0.14111	N	0.340719	T	0.58779	0.2146	N	0.14661	0.345	0.21822	N	0.999529	P	0.43231	0.801	B	0.35353	0.201	T	0.54234	-0.8324	10	0.87932	D	0	-22.358	10.3514	0.43939	0.0:0.8128:0.0:0.1872	.	1087	A6NKC6	.	S	1087	ENSP00000371923:R1087S	ENSP00000371923:R1087S	R	-	3	2	RP1L1	10505757	0.609000	0.26975	0.975000	0.42487	0.095000	0.18619	0.451000	0.21779	1.202000	0.43218	0.561000	0.74099	AGG		0.687	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			9	52	1	0	3.09899e-07	0.004482	4.05431e-07	9	52				
RP1L1	94137	broad.mit.edu	37	8	10470559	10470559	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:10470559G>T	ENST00000382483.3	-	4	1272	c.1049C>A	c.(1048-1050)aCg>aAg	p.T350K		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	350					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.T350K(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACTGGCTGCCGTGAGGGCGCT	0.672																																							uc003wtc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(1048-1050)ACG>AAG		retinitis pigmentosa 1-like 1							52.0	57.0	55.0					8																	10470559		2069	4204	6273	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10470559G>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1049C>A	8.37:g.10470559G>T	ENSP00000371923:p.Thr350Lys						p.T350K	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1278	-			350					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.1049C>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.522012	0.44866	.	.	ENSG00000183638	ENST00000382483	T	0.04234	3.67	4.01	1.97	0.26223	.	.	.	.	.	T	0.10594	0.0259	L	0.50333	1.59	0.09310	N	1	D	0.64830	0.994	P	0.54965	0.765	T	0.14448	-1.0472	9	0.72032	D	0.01	-0.6656	8.949	0.35776	0.0975:0.2572:0.6453:0.0	.	350	A6NKC6	.	K	350	ENSP00000371923:T350K	ENSP00000371923:T350K	T	-	2	0	RP1L1	10507969	0.022000	0.18835	0.010000	0.14722	0.010000	0.07245	2.457000	0.45005	0.655000	0.30866	0.313000	0.20887	ACG		0.672	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			27	65	1	0	3.73988e-18	0.00632	6.29748e-18	27	65				
RP1L1	94137	broad.mit.edu	37	8	10480731	10480731	+	Splice_Site	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:10480731C>A	ENST00000382483.3	-	2	205		c.e2-1		RP1L1_ENST00000329335.3_Splice_Site	NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1						cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCTCTGGCCGCTGTAACAGGG	0.627																																							uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.e2-1		retinitis pigmentosa 1-like 1							19.0	21.0	21.0					8																	10480731		1861	3908	5769	SO:0001630	splice_region_variant	94137				intracellular signal transduction			g.chr8:10480731C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.19-1G>T	8.37:g.10480731C>A								NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	2	211	-								Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Splice_Site	SNP	ENST00000382483.3	37	c.-18_splice	CCDS43708.1																																																																																				0.627	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		Intron	9	29	1	0	5.68852e-11	0.004482	8.37633e-11	9	29				
MTMR9	66036	broad.mit.edu	37	8	11163743	11163743	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:11163743G>T	ENST00000221086.3	+	5	1109	c.636G>T	c.(634-636)agG>agT	p.R212S	MTMR9_ENST00000526292.1_Missense_Mutation_p.R127S	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	212	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)	p.R212S(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		CAAACGGGAGGAGGTGCAAGG	0.463																																							uc003wtm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(634-636)AGG>AGT		myotubularin related protein 9							101.0	87.0	92.0					8																	11163743		2203	4300	6503	SO:0001583	missense	66036					cytoplasm	phosphatase activity|protein binding	g.chr8:11163743G>T	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.636G>T	8.37:g.11163743G>T	ENSP00000221086:p.Arg212Ser					MTMR9_uc010lrx.2_Missense_Mutation_p.R105S|MTMR9_uc011kxa.1_Missense_Mutation_p.R127S	p.R212S	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)	5	1034	+			212			Myotubularin phosphatase.		B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Missense_Mutation	SNP	ENST00000221086.3	37	c.636G>T	CCDS5979.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276728	0.59758	.	.	ENSG00000104643	ENST00000221086;ENST00000526292	D;D	0.88975	-2.45;-2.45	5.54	-0.85	0.10720	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.134840	0.64402	D	0.000009	T	0.79587	0.4471	L	0.28694	0.88	0.49483	D	0.999791	B	0.12013	0.005	B	0.23018	0.043	T	0.65788	-0.6083	10	0.56958	D	0.05	.	7.114	0.25407	0.3366:0.0:0.5251:0.1383	.	212	Q96QG7	MTMR9_HUMAN	S	212;127	ENSP00000221086:R212S;ENSP00000433239:R127S	ENSP00000221086:R212S	R	+	3	2	MTMR9	11201153	0.844000	0.29557	0.994000	0.49952	0.981000	0.71138	-0.102000	0.10956	-0.151000	0.11176	0.563000	0.77884	AGG		0.463	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207307.2	NM_015458		6	43	1	0	0.00198382	0.001984	0.00214179	6	43				
SLC18A1	6570	broad.mit.edu	37	8	20004891	20004891	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:20004891C>A	ENST00000276373.5	-	15	1608	c.1342G>T	c.(1342-1344)Ggt>Tgt	p.G448C	SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000265808.7_Missense_Mutation_p.G416C|SLC18A1_ENST00000519026.1_Missense_Mutation_p.G416C|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000440926.1_Missense_Mutation_p.G448C	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	448					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)	p.G448C(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	ATGGCACCACCGGTGGATGGA	0.542																																							uc011kyq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1342-1344)GGT>TGT		solute carrier family 18 (vesicular monoamine),							79.0	69.0	72.0					8																	20004891		2203	4300	6503	SO:0001583	missense	6570				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity	g.chr8:20004891C>A		CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"""Solute carriers"""	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.1342G>T	8.37:g.20004891C>A	ENSP00000276373:p.Gly448Cys					SLC18A1_uc003wzl.2_Missense_Mutation_p.G235C|SLC18A1_uc003wzm.2_Missense_Mutation_p.G448C|SLC18A1_uc011kyr.1_Intron|SLC18A1_uc003wzn.2_Missense_Mutation_p.G416C|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Missense_Mutation_p.G416C	p.G448C	NM_001135691	NP_001129163	P54219	VMAT1_HUMAN		Colorectal(74;0.0747)	16	1813	-			448			Lumenal, vesicle (Potential).		E9PDJ5|Q9BRE4	Missense_Mutation	SNP	ENST00000276373.5	37	c.1342G>T	CCDS6013.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592810	0.66219	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000519026	T;D;D;T	0.81996	-0.06;-1.56;-1.56;-0.06	4.88	4.88	0.63580	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.349316	0.32134	N	0.006528	D	0.92011	0.7469	M	0.86953	2.85	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.988;0.992	D	0.93320	0.6692	10	0.87932	D	0	-7.4552	16.7583	0.85506	0.0:1.0:0.0:0.0	.	416;448	E9PDJ5;P54219	.;VMAT1_HUMAN	C	416;448;448;416	ENSP00000265808:G416C;ENSP00000276373:G448C;ENSP00000387549:G448C;ENSP00000429664:G416C	ENSP00000265808:G416C	G	-	1	0	SLC18A1	20049171	1.000000	0.71417	0.978000	0.43139	0.334000	0.28698	7.470000	0.80973	2.543000	0.85770	0.462000	0.41574	GGT		0.542	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214106.1			11	37	1	0	4.68919e-08	0.008291	6.30865e-08	11	37				
RNF5P1	286140	broad.mit.edu	37	8	38458585	38458585	+	IGR	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:38458585A>T								RP11-675F6.4 (42047 upstream) : RP11-495O10.1 (99558 downstream)																							CCAACAGTACAGGTGGCCACA	0.577																																							uc003xly.2		NA																	0					0						c.(133-135)CTG>CAG		SubName: Full=Putative uncharacterized protein RNF5;																																				SO:0001628	intergenic_variant	286140							g.chr8:38458585A>T																													8.37:g.38458585A>T							p.L45Q	NR_003129						1	191	-									Missense_Mutation	SNP		37	c.134T>A																																																																																				0	0.577									5	56	0	0	0	0.001168	0	5	56				
CHRNA6	8973	broad.mit.edu	37	8	42611846	42611846	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:42611846G>A	ENST00000276410.2	-	5	851	c.496C>T	c.(496-498)Cct>Tct	p.P166S	CHRNA6_ENST00000534622.1_Missense_Mutation_p.P151S|CHRNA6_ENST00000530869.1_5'Flank	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	166					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)	p.P166S(1)		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)	TGATCAAAAGGGAAAAAGGTG	0.368																																							uc003xpj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(496-498)CCT>TCT		cholinergic receptor, nicotinic, alpha 6							133.0	134.0	134.0					8																	42611846		2203	4300	6503	SO:0001583	missense	8973					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:42611846G>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.496C>T	8.37:g.42611846G>A	ENSP00000276410:p.Pro166Ser					CHRNA6_uc011lcw.1_Missense_Mutation_p.P151S	p.P166S	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	542	-	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)	166			Extracellular.		B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	c.496C>T	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859944	0.91433	.	.	ENSG00000147434	ENST00000276410;ENST00000534622;ENST00000533810	D;D;D	0.98550	-4.99;-4.99;-4.99	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel ligand-binding (3);Neurotransmitter-gated ion-channel, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99569	0.9845	H	0.99697	4.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97595	1.0119	10	0.87932	D	0	.	20.4043	0.99006	0.0:0.0:1.0:0.0	.	151;166	B4DQH1;Q15825	.;ACHA6_HUMAN	S	166;151;87	ENSP00000276410:P166S;ENSP00000433871:P151S;ENSP00000434659:P87S	ENSP00000276410:P166S	P	-	1	0	CHRNA6	42731003	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.773000	0.98989	2.824000	0.97209	0.650000	0.86243	CCT		0.368	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1			15	102	0	0	0	0.00245	0	15	102				
MCM4	4173	broad.mit.edu	37	8	48883377	48883377	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:48883377G>A	ENST00000262105.2	+	11	1950	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	MCM4_ENST00000523944.1_Missense_Mutation_p.E581K	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	581	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.E581K(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CAAGATGAATGAAAGTACAAG	0.478																																							uc003xqk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1741-1743)GAA>AAA		minichromosome maintenance complex component 4							85.0	74.0	78.0					8																	48883377		2203	4300	6503	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48883377G>A		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1741G>A	8.37:g.48883377G>A	ENSP00000262105:p.Glu581Lys					MCM4_uc003xql.1_Missense_Mutation_p.E581K|MCM4_uc011ldi.1_Missense_Mutation_p.E568K	p.E581K	NM_182746	NP_877423	P33991	MCM4_HUMAN			12	1836	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	581			MCM.		Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.1741G>A	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	36	5.759321	0.96898	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229	T;T	0.07114	3.22;3.22	6.03	6.03	0.97812	ATPase, AAA+ type, core (1);	0.129607	0.64402	D	0.000001	T	0.25827	0.0629	L	0.57536	1.79	0.80722	D	1	P;P	0.42409	0.779;0.779	P;P	0.56216	0.794;0.794	T	0.00005	-1.2543	10	0.87932	D	0	-38.2991	20.5568	0.99304	0.0:0.0:1.0:0.0	.	581;581	B3KMX0;P33991	.;MCM4_HUMAN	K	581;581;568;541	ENSP00000430194:E581K;ENSP00000262105:E581K	ENSP00000262105:E581K	E	+	1	0	MCM4	49045930	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	9.845000	0.99498	2.861000	0.98227	0.655000	0.94253	GAA		0.478	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		8	56	0	0	0	0.00308	0	8	56				
PCMTD1	115294	broad.mit.edu	37	8	52732947	52732947	+	Silent	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:52732947A>G	ENST00000360540.5	-	7	1444	c.1038T>C	c.(1036-1038)tcT>tcC	p.S346S	PCMTD1_ENST00000522514.1_Silent_p.S346S|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Silent_p.S270S	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	346						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)	p.S346S(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AAGCTTTTAAAGATTCAGGGA	0.348																																							uc003xqx.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1036-1038)TCT>TCC		protein-L-isoaspartate (D-aspartate)							57.0	57.0	57.0					8																	52732947		2202	4300	6502	SO:0001819	synonymous_variant	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52732947A>G		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.1038T>C	8.37:g.52732947A>G						PCMTD1_uc011ldm.1_Silent_p.S216S|PCMTD1_uc003xqw.3_Silent_p.S346S|PCMTD1_uc011ldn.1_Silent_p.S158S|PCMTD1_uc010lya.2_Silent_p.S270S	p.S346S	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			6	1379	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	346					Q96FK9	Silent	SNP	ENST00000360540.5	37	c.1038T>C	CCDS6148.1																																																																																				0.348	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		3	86	0	0	0	0.009096	0	3	86				
RGS20	8601	broad.mit.edu	37	8	54764607	54764607	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:54764607G>T	ENST00000297313.3	+	1	240	c.148G>T	c.(148-150)Gct>Tct	p.A50S	RGS20_ENST00000344277.6_Missense_Mutation_p.A50S	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	50					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.A50S(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			AGACCTCAGGGCTGTTCCTGA	0.433																																							uc003xrp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(148-150)GCT>TCT		regulator of G-protein signaling 20 isoform a							100.0	101.0	100.0					8																	54764607		2203	4300	6503	SO:0001583	missense	8601				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr8:54764607G>T	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.148G>T	8.37:g.54764607G>T	ENSP00000297313:p.Ala50Ser					RGS20_uc003xrq.2_Missense_Mutation_p.A50S|RGS20_uc010lye.2_Silent_p.G6G|RGS20_uc010lyf.2_Silent_p.G6G	p.A50S	NM_170587	NP_733466	O76081	RGS20_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		1	240	+			50					Q96BG9	Missense_Mutation	SNP	ENST00000297313.3	37	c.148G>T	CCDS6155.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850653	0.32699	.	.	ENSG00000147509	ENST00000297313;ENST00000344277	T;T	0.55234	0.64;0.53	5.11	4.23	0.50019	.	.	.	.	.	T	0.46639	0.1403	L	0.48642	1.525	0.22156	N	0.999324	B;P	0.34522	0.288;0.455	B;B	0.35413	0.202;0.081	T	0.46317	-0.9200	9	0.87932	D	0	.	9.5395	0.39242	0.095:0.0:0.905:0.0	.	50;50	O76081-2;O76081	.;RGS20_HUMAN	S	50	ENSP00000297313:A50S;ENSP00000344630:A50S	ENSP00000297313:A50S	A	+	1	0	RGS20	54927160	0.014000	0.17966	0.008000	0.14137	0.043000	0.13939	2.052000	0.41316	1.518000	0.48934	0.655000	0.94253	GCT		0.433	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			7	65	1	0	5.18039e-06	0.00308	6.39282e-06	7	65				
RP1	6101	broad.mit.edu	37	8	55541512	55541512	+	Silent	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:55541512A>T	ENST00000220676.1	+	4	5218	c.5070A>T	c.(5068-5070)tcA>tcT	p.S1690S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1690	Poly-Ser.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.S1690S(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTAGTAGTTCATCTATGTTGC	0.408																																					Colon(91;1014 1389 7634 14542 40420)	Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(5068-5070)TCA>TCT		retinitis pigmentosa RP1 protein							164.0	167.0	166.0					8																	55541512		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.chr8:55541512A>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5070A>T	8.37:g.55541512A>T						RP1_uc011ldy.1_Intron	p.S1690S	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	5218	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1690			Poly-Ser.			Silent	SNP	ENST00000220676.1	37	c.5070A>T	CCDS6160.1																																																																																				0.408	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		80	96	0	0	0	0.00361	0	80	96				
CRISPLD1	83690	broad.mit.edu	37	8	75941685	75941685	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:75941685G>A	ENST00000262207.4	+	14	1852	c.1384G>A	c.(1384-1386)Gat>Aat	p.D462N	RP11-300E4.2_ENST00000520778.1_RNA|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.D276N|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.D274N	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	462	LCCL 2. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.D462N(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TGGTTATGTTGATGTAATGCC	0.378																																							uc003yan.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1384-1386)GAT>AAT		cysteine-rich secretory protein LCCL domain							107.0	99.0	102.0					8																	75941685		2203	4300	6503	SO:0001583	missense	83690					extracellular region		g.chr8:75941685G>A	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1384G>A	8.37:g.75941685G>A	ENSP00000262207:p.Asp462Asn					CRISPLD1_uc011lfk.1_Missense_Mutation_p.D274N|CRISPLD1_uc011lfl.1_Missense_Mutation_p.D274N	p.D462N	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		14	1759	+	Breast(64;0.0799)		462			LCCL 2.		B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	c.1384G>A	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	G	35	5.436653	0.96168	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.89196	-2.48;-2.48;-2.48	5.29	5.29	0.74685	LCCL (5);	0.000000	0.85682	D	0.000000	D	0.94128	0.8117	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.995;0.999	D	0.93698	0.7013	10	0.52906	T	0.07	.	19.1301	0.93402	0.0:0.0:1.0:0.0	.	276;462	B7Z929;Q9H336	.;CRLD1_HUMAN	N	462;274;276	ENSP00000262207:D462N;ENSP00000430105:D274N;ENSP00000429746:D276N	ENSP00000262207:D462N	D	+	1	0	CRISPLD1	76104240	1.000000	0.71417	0.979000	0.43373	0.985000	0.73830	9.193000	0.94954	2.767000	0.95098	0.655000	0.94253	GAT		0.378	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		6	65	0	0	0	0.001168	0	6	65				
ZFHX4	79776	broad.mit.edu	37	8	77616325	77616325	+	Start_Codon_SNP	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:77616325T>A	ENST00000521891.2	+	2	450	c.2T>A	c.(1-3)aTg>aAg	p.M1K	ZFHX4_ENST00000050961.6_Start_Codon_SNP_p.M1K|ZFHX4_ENST00000518282.1_Start_Codon_SNP_p.M1K|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Start_Codon_SNP_p.M1K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.M1K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAATTGCCATGGAAACCTGT	0.438										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1-3)ATG>AAG		zinc finger homeodomain 4							39.0	38.0	38.0					8																	77616325		1941	4160	6101	SO:0001582	initiator_codon_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616325T>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2T>A	8.37:g.77616325T>A	ENSP00000430497:p.Met1Lys	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.M1K|ZFHX4_uc003yau.1_Missense_Mutation_p.M1K|ZFHX4_uc003yaw.1_Missense_Mutation_p.M1K	p.M1K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	389	+			1					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.2T>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	13.53	2.263266	0.39995	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.55	5.55	0.83447	.	0.000000	0.52532	U	0.000073	T	0.61590	0.2359	.	.	.	0.80722	D	1	D;D;D;D	0.63046	0.987;0.992;0.992;0.991	D;D;D;P	0.71656	0.942;0.974;0.974;0.801	T	0.66232	-0.5975	9	0.87932	D	0	.	15.8689	0.79091	0.0:0.0:0.0:1.0	.	1;1;1;1	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	K	1	ENSP00000430497:M1K;ENSP00000399605:M1K;ENSP00000050961:M1K;ENSP00000428525:M1K;ENSP00000429495:M1K;ENSP00000427775:M1K;ENSP00000427739:M1K;ENSP00000430848:M1K	ENSP00000050961:M1K	M	+	2	0	ZFHX4	77778880	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.333000	0.79357	0.482000	0.46254	ATG		0.438	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	Missense_Mutation	5	37	0	0	0	0.000602	0	5	37				
ZFHX4	79776	broad.mit.edu	37	8	77764826	77764826	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:77764826C>A	ENST00000521891.2	+	10	6117	c.5669C>A	c.(5668-5670)tCc>tAc	p.S1890Y	ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1845Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1864Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1845Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1845					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S1890Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGCAAAAATCCTTGGAACCA	0.433										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(5533-5535)TCC>TAC		zinc finger homeodomain 4							33.0	29.0	30.0					8																	77764826		1879	4115	5994	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764826C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5669C>A	8.37:g.77764826C>A	ENSP00000430497:p.Ser1890Tyr	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.S1890Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1845Y	p.S1845Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5921	+			1845					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.5534C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630805	0.28978	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52057	0.68;0.73;0.69;0.69	4.71	4.71	0.59529	.	0.177434	0.27031	U	0.021265	T	0.45155	0.1328	L	0.56769	1.78	0.27168	N	0.960991	B;B;B	0.18968	0.019;0.032;0.032	B;B;B	0.18561	0.01;0.022;0.022	T	0.38286	-0.9668	10	0.42905	T	0.14	.	13.958	0.64162	0.0:0.8481:0.1519:0.0	.	1845;1845;1890	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Y	1890;1890;1845;1845;1864	ENSP00000430497:S1890Y;ENSP00000399605:S1845Y;ENSP00000050961:S1845Y;ENSP00000430848:S1864Y	ENSP00000050961:S1845Y	S	+	2	0	ZFHX4	77927381	0.886000	0.30341	0.819000	0.32651	0.998000	0.95712	3.808000	0.55598	2.631000	0.89168	0.632000	0.83419	TCC		0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		9	20	1	0	9.70103e-10	0.008291	1.3817e-09	9	20				
ZFHX4	79776	broad.mit.edu	37	8	77775789	77775789	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:77775789G>T	ENST00000521891.2	+	11	10287	c.9839G>T	c.(9838-9840)gGa>gTa	p.G3280V	ZFHX4_ENST00000050961.6_Missense_Mutation_p.G3231V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G3254V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G3235V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3231					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G3264V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCTCCCTGGAACAGTGCAG	0.527										HNSCC(33;0.089)																													uc003yav.2		NA																	1	Substitution - Missense(1)	p.A3235G(1)	lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9703-9705)GGA>GTA		zinc finger homeodomain 4							106.0	101.0	103.0					8																	77775789		1887	4114	6001	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775789G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9839G>T	8.37:g.77775789G>T	ENSP00000430497:p.Gly3280Val	HNSCC(33;0.089)					p.G3235V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	10091	+			3231					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9704G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	11.97	1.797640	0.31777	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.60548	0.18;0.25;0.25;0.22	4.45	4.45	0.53987	.	0.000000	0.41500	U	0.000877	T	0.75228	0.3821	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.78790	-0.2066	10	0.72032	D	0.01	.	17.6427	0.88141	0.0:0.0:1.0:0.0	.	3235	Q86UP3-4	.	V	3280;3264;3235;3231;3254	ENSP00000430497:G3280V;ENSP00000399605:G3235V;ENSP00000050961:G3231V;ENSP00000430848:G3254V	ENSP00000050961:G3231V	G	+	2	0	ZFHX4	77938344	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	7.563000	0.82314	2.477000	0.83638	0.655000	0.94253	GGA		0.527	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		56	128	1	0	3.40343e-31	0.00361	6.06344e-31	56	128				
CNGB3	54714	broad.mit.edu	37	8	87641203	87641203	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:87641203A>T	ENST00000320005.5	-	12	1471	c.1424T>A	c.(1423-1425)gTg>gAg	p.V475E		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	475					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.V475E(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCGCTTTTGCACAAGTTTAGG	0.433																																							uc003ydx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1423-1425)GTG>GAG		cyclic nucleotide gated channel beta 3							248.0	231.0	237.0					8																	87641203		2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87641203A>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1424T>A	8.37:g.87641203A>T	ENSP00000316605:p.Val475Glu					CNGB3_uc010maj.2_Missense_Mutation_p.V337E	p.V475E	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			12	1470	-			475			Extracellular (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.1424T>A	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.513962	0.85389	.	.	ENSG00000170289	ENST00000320005	D	0.96830	-4.14	5.92	4.74	0.60224	Cyclic nucleotide-binding-like (1);	0.235339	0.34245	N	0.004133	D	0.97986	0.9337	M	0.86573	2.825	0.80722	D	1	D;D	0.65815	0.995;0.991	D;D	0.69654	0.965;0.924	D	0.98141	1.0436	10	0.87932	D	0	.	12.2346	0.54508	0.933:0.0:0.067:0.0	.	475;475	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	E	475	ENSP00000316605:V475E	ENSP00000316605:V475E	V	-	2	0	CNGB3	87710319	1.000000	0.71417	0.897000	0.35233	0.965000	0.64279	7.514000	0.81750	1.025000	0.39708	0.454000	0.30748	GTG		0.433	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		31	205	0	0	0	0.008361	0	31	205				
CNGB3	54714	broad.mit.edu	37	8	87656858	87656858	+	Silent	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:87656858A>G	ENST00000320005.5	-	9	1094	c.1047T>C	c.(1045-1047)taT>taC	p.Y349Y		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	349					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.Y349Y(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ACCTGTAGATATATGCTTTGT	0.353																																							uc003ydx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1045-1047)TAT>TAC		cyclic nucleotide gated channel beta 3							60.0	59.0	59.0					8																	87656858		2199	4293	6492	SO:0001819	synonymous_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87656858A>G	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1047T>C	8.37:g.87656858A>G						CNGB3_uc010maj.2_Silent_p.Y211Y	p.Y349Y	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			9	1093	-			349			Extracellular (Potential).		C9JA51|Q9NRE9	Silent	SNP	ENST00000320005.5	37	c.1047T>C	CCDS6244.1																																																																																				0.353	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		9	19	0	0	0	0.008291	0	9	19				
SLC26A7	115111	broad.mit.edu	37	8	92352651	92352651	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:92352651C>G	ENST00000276609.3	+	8	1137	c.898C>G	c.(898-900)Ccc>Gcc	p.P300A	SLC26A7_ENST00000523719.1_Missense_Mutation_p.P300A|SLC26A7_ENST00000309536.2_Missense_Mutation_p.P300A	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7									p.P300A(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACCTAGAGCTCCCCCGATGAA	0.453																																							uc003yex.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(898-900)CCC>GCC		solute carrier family 26, member 7 isoform a							116.0	104.0	108.0					8																	92352651		2203	4300	6503	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92352651C>G	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.898C>G	8.37:g.92352651C>G	ENSP00000276609:p.Pro300Ala					SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Missense_Mutation_p.P300A|SLC26A7_uc003yfa.2_Missense_Mutation_p.P300A	p.P300A	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		9	1176	+			300			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000276609.3	37	c.898C>G	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186969	0.57909	.	.	ENSG00000147606	ENST00000523719;ENST00000276609;ENST00000309536	D;D;D	0.94537	-3.45;-3.45;-3.45	6.02	6.02	0.97574	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.98115	0.9378	M	0.92784	3.345	0.46749	D	0.999182	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.98308	1.0522	10	0.87932	D	0	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	300;300	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	A	300	ENSP00000428849:P300A;ENSP00000276609:P300A;ENSP00000309504:P300A	ENSP00000276609:P300A	P	+	1	0	SLC26A7	92421827	0.987000	0.35691	0.822000	0.32727	0.212000	0.24457	5.026000	0.64103	2.865000	0.98341	0.655000	0.94253	CCC		0.453	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			33	108	0	0	0	0.005524	0	33	108				
RUNX1T1	862	broad.mit.edu	37	8	92998350	92998350	+	Splice_Site	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:92998350A>T	ENST00000523629.1	-	9	1734		c.e9+1		RUNX1T1_ENST00000520724.1_Splice_Site|RUNX1T1_ENST00000518844.1_Splice_Site|RUNX1T1_ENST00000422361.2_Splice_Site|RUNX1T1_ENST00000265814.3_Splice_Site|RUNX1T1_ENST00000396218.1_Splice_Site|RUNX1T1_ENST00000360348.2_Splice_Site|RUNX1T1_ENST00000436581.2_Splice_Site	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)						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)	p.?(3)		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)			AAGAAAAGTTACCTAGTGCAA	0.423																																							uc003yfd.2		NA																	3	Unknown(3)		lung(3)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.e8+1		acute myelogenous leukemia 1 translocation 1							108.0	115.0	113.0					8																	92998350		2203	4300	6503	SO:0001630	splice_region_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998350A>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.1279+1T>A	8.37:g.92998350A>T						RUNX1T1_uc003yfc.1_Splice_Site_p.D400_splice|RUNX1T1_uc003yfe.1_Splice_Site_p.D390_splice|RUNX1T1_uc010mao.2_Splice_Site_p.D400_splice|RUNX1T1_uc011lgi.1_Splice_Site_p.D438_splice|RUNX1T1_uc010man.1_Splice_Site|RUNX1T1_uc003yfb.1_Splice_Site_p.D390_splice	p.D427_splice	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		8	1363	-								B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Splice_Site	SNP	ENST00000523629.1	37	c.1279_splice	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	A	19.04	3.749150	0.69533	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9204	0.79562	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RUNX1T1	93067526	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	3.936000	0.56568	2.164000	0.68074	0.533000	0.62120	.		0.423	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635	Intron	7	188	0	0	0	0.00308	0	7	188				
RUNX1T1	862	broad.mit.edu	37	8	93023247	93023247	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:93023247C>A	ENST00000523629.1	-	5	995	c.541G>T	c.(541-543)Gtc>Ttc	p.V181F	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.V144F|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.V154F|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.V144F|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.V181F|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.V154F|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.V144F|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.V144F|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.V192F	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)	181	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)	p.V192F(1)|p.V181F(1)|p.V144F(1)		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)			AATGGGATGACAAAAGGTCTC	0.333																																							uc003yfd.2		NA																	3	Substitution - Missense(3)		lung(3)	lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(541-543)GTC>TTC		acute myelogenous leukemia 1 translocation 1							145.0	139.0	141.0					8																	93023247		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.chr8:93023247C>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.541G>T	8.37:g.93023247C>A	ENSP00000428543:p.Val181Phe					RUNX1T1_uc003yfc.1_Missense_Mutation_p.V154F|RUNX1T1_uc003yfe.1_Missense_Mutation_p.V144F|RUNX1T1_uc010mao.2_Missense_Mutation_p.V154F|RUNX1T1_uc011lgi.1_Missense_Mutation_p.V192F|RUNX1T1_uc003yfh.1_Missense_Mutation_p.V144F|RUNX1T1_uc003yfb.1_Missense_Mutation_p.V144F|RUNX1T1_uc003yff.1_Missense_Mutation_p.V144F|RUNX1T1_uc003yfg.1_Missense_Mutation_p.V144F	p.V181F	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		4	625	-			181			TAFH.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.541G>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225061	0.95173	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844;ENST00000521553;ENST00000518992;ENST00000521054	T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.87	5.87	0.94306	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D	0.89917	0.998;1.0;0.995;1.0;0.994	D;D;D;D;D	0.97110	0.993;1.0;0.987;1.0;0.977	T	0.74450	-0.3661	10	0.87932	D	0	-16.7968	20.5827	0.99408	0.0:1.0:0.0:0.0	.	192;192;154;181;154	E7EPN4;B7Z4P4;B2R6I9;Q06455;Q06455-2	.;.;.;MTG8_HUMAN;.	F	181;154;181;144;144;144;192;154;144;181;144	ENSP00000428543:V181F;ENSP00000379520:V154F;ENSP00000265814:V181F;ENSP00000353504:V144F;ENSP00000390137:V144F;ENSP00000428742:V144F;ENSP00000402257:V192F;ENSP00000430728:V154F;ENSP00000429728:V144F;ENSP00000431094:V181F;ENSP00000427763:V144F	ENSP00000265814:V181F	V	-	1	0	RUNX1T1	93092423	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.941000	0.99782	0.655000	0.94253	GTC		0.333	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		40	54	1	0	8.48111e-28	0.00361	1.49819e-27	40	54				
SPAG1	6674	broad.mit.edu	37	8	101174537	101174537	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:101174537G>T	ENST00000388798.2	+	2	220	c.29G>T	c.(28-30)tGg>tTg	p.W10L	SPAG1_ENST00000520508.1_Missense_Mutation_p.W10L|SPAG1_ENST00000251809.3_Missense_Mutation_p.W10L|SPAG1_ENST00000520643.1_Missense_Mutation_p.W10L	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	10					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.W10L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		CCATCATTGTGGGGCTTTGGA	0.279																																							uc003yjh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(28-30)TGG>TTG		sperm associated antigen 1							46.0	49.0	48.0					8																	101174537		2203	4299	6502	SO:0001583	missense	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101174537G>T	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.29G>T	8.37:g.101174537G>T	ENSP00000373450:p.Trp10Leu					SPAG1_uc003yjg.1_Missense_Mutation_p.W10L|SPAG1_uc003yji.1_Missense_Mutation_p.W10L	p.W10L	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	2	115	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	10					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	c.29G>T	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.791071	0.31685	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.58210	3.13;0.35;3.13;0.35	5.82	4.0	0.46444	.	6.027730	0.00166	N	0.000000	T	0.57125	0.2032	M	0.63428	1.95	0.30038	N	0.812883	B;B	0.12630	0.006;0.002	B;B	0.12156	0.007;0.002	T	0.46386	-0.9195	10	0.32370	T	0.25	-8.8207	13.1862	0.59682	0.0:0.0:0.4647:0.5353	.	10;10	Q07617;G3XAM3	SPAG1_HUMAN;.	L	10	ENSP00000427716:W10L;ENSP00000251809:W10L;ENSP00000428070:W10L;ENSP00000373450:W10L	ENSP00000251809:W10L	W	+	2	0	SPAG1	101243713	1.000000	0.71417	0.998000	0.56505	0.738000	0.42128	2.441000	0.44864	0.765000	0.33221	0.563000	0.77884	TGG		0.279	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		16	22	1	0	9.16793e-09	0.00499	1.27109e-08	16	22				
ZFPM2	23414	broad.mit.edu	37	8	106431453	106431453	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:106431453C>A	ENST00000407775.2	+	2	372	c.122C>A	c.(121-123)cCa>cAa	p.P41Q	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	41					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P41Q(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGAGACTTTCCATTGGAGGAA	0.418																																							uc003ymd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(121-123)CCA>CAA		zinc finger protein, multitype 2							102.0	99.0	100.0					8																	106431453		1849	4102	5951	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106431453C>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.122C>A	8.37:g.106431453C>A	ENSP00000384179:p.Pro41Gln						p.P41Q	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		2	145	+			41					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.122C>A	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458220	0.84317	.	.	ENSG00000169946	ENST00000407775	T	0.20598	2.06	5.37	5.37	0.77165	.	0.102544	0.40064	N	0.001183	T	0.16981	0.0408	N	0.19112	0.55	0.80722	D	1	P	0.44578	0.838	B	0.38562	0.276	T	0.02668	-1.1126	10	0.59425	D	0.04	.	19.0988	0.93265	0.0:1.0:0.0:0.0	.	41	Q8WW38	FOG2_HUMAN	Q	41	ENSP00000384179:P41Q	ENSP00000384179:P41Q	P	+	2	0	ZFPM2	106500629	1.000000	0.71417	0.949000	0.38748	0.941000	0.58515	7.410000	0.80065	2.528000	0.85240	0.591000	0.81541	CCA		0.418	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			8	116	1	0	1.06961e-07	0.00308	1.42071e-07	8	116				
CSMD3	114788	broad.mit.edu	37	8	113585804	113585804	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:113585804G>T	ENST00000297405.5	-	24	4212	c.3968C>A	c.(3967-3969)aCt>aAt	p.T1323N	CSMD3_ENST00000343508.3_Missense_Mutation_p.T1283N|CSMD3_ENST00000455883.2_Missense_Mutation_p.T1219N|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1323N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1323	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T1323N(1)|p.T1283N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGATTTGAAGTACTACTAAG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3967-3969)ACT>AAT		CUB and Sushi multiple domains 3 isoform 1							130.0	130.0	130.0					8																	113585804		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113585804G>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.3968C>A	8.37:g.113585804G>T	ENSP00000297405:p.Thr1323Asn	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.T595N|CSMD3_uc003ynt.2_Missense_Mutation_p.T1283N|CSMD3_uc011lhx.1_Missense_Mutation_p.T1219N	p.T1323N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			24	4127	-			1323			Extracellular (Potential).|CUB 7.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3968C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.575408	0.86645	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	4.71	4.71	0.59529	CUB (5);	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	M	0.74546	2.27	0.44587	D	0.997553	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.77004	0.974;0.985;0.989	T	0.42582	-0.9443	10	0.39692	T	0.17	.	17.8333	0.88689	0.0:0.0:1.0:0.0	.	1219;1323;1283	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	1283;1323;663;1219;1323	ENSP00000345799:T1283N;ENSP00000297405:T1323N;ENSP00000341558:T663N;ENSP00000412263:T1219N;ENSP00000343124:T1323N	ENSP00000297405:T1323N	T	-	2	0	CSMD3	113654980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.407000	0.97325	2.403000	0.81681	0.591000	0.81541	ACT		0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		47	77	1	0	6.7651e-33	0.00361	1.21145e-32	47	77				
CSMD3	114788	broad.mit.edu	37	8	113668420	113668420	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:113668420G>C	ENST00000297405.5	-	18	3211	c.2967C>G	c.(2965-2967)aaC>aaG	p.N989K	CSMD3_ENST00000343508.3_Missense_Mutation_p.N949K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N885K|CSMD3_ENST00000352409.3_Missense_Mutation_p.N989K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	989	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.N989K(1)|p.N949K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGAACGACTGTTGTCTGTTG	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(2965-2967)AAC>AAG		CUB and Sushi multiple domains 3 isoform 1							66.0	73.0	70.0					8																	113668420		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113668420G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2967C>G	8.37:g.113668420G>C	ENSP00000297405:p.Asn989Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.N261K|CSMD3_uc003ynt.2_Missense_Mutation_p.N949K|CSMD3_uc011lhx.1_Missense_Mutation_p.N885K	p.N989K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			18	3126	-			989			Extracellular (Potential).|CUB 5.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2967C>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.131798	0.37630	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	5.28	3.41	0.39046	CUB (5);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	N	0.13043	0.29	0.35690	D	0.814798	D;D;B	0.76494	0.999;0.999;0.357	D;D;B	0.91635	0.998;0.999;0.219	T	0.05500	-1.0881	10	0.05436	T	0.98	.	11.3103	0.49360	0.1551:0.0:0.8449:0.0	.	885;989;949	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	949;989;329;885;989	ENSP00000345799:N949K;ENSP00000297405:N989K;ENSP00000341558:N329K;ENSP00000412263:N885K;ENSP00000343124:N989K	ENSP00000297405:N989K	N	-	3	2	CSMD3	113737596	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	3.331000	0.52075	0.655000	0.30866	0.557000	0.71058	AAC		0.328	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		3	98	0	0	0	0.004672	0	3	98				
TG	7038	broad.mit.edu	37	8	133898772	133898772	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:133898772G>A	ENST00000220616.4	+	9	1195	c.1155G>A	c.(1153-1155)caG>caA	p.Q385Q	TG_ENST00000377869.1_Silent_p.Q385Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	385					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.Q385L(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACTTCAGCCAGCACGACCTGT	0.532																																							uc003ytw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(1153-1155)CAG>CAA		thyroglobulin precursor							140.0	144.0	142.0					8																	133898772		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133898772G>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1155G>A	8.37:g.133898772G>A							p.Q385Q	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	9	1196	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	385					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.1155G>A	CCDS34944.1																																																																																				0.532	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		15	211	0	0	0	0.004007	0	15	211				
ST3GAL1	6482	broad.mit.edu	37	8	134472025	134472025	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:134472025C>A	ENST00000319914.5	-	9	2032	c.1005G>T	c.(1003-1005)cgG>cgT	p.R335R	ST3GAL1_ENST00000521180.1_Silent_p.R335R|ST3GAL1_ENST00000522652.1_Silent_p.R335R|ST3GAL1_ENST00000399640.2_Silent_p.R335R			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	335					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)	p.R335R(1)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCTTGAAGATCCGGATTTTAT	0.572																																							uc003yuk.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1003-1005)CGG>CGT		ST3 beta-galactoside alpha-2,3-sialyltransferase							159.0	119.0	132.0					8																	134472025		2203	4300	6503	SO:0001819	synonymous_variant	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134472025C>A	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.1005G>T	8.37:g.134472025C>A						ST3GAL1_uc003yum.2_Silent_p.R335R	p.R335R	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		10	1834	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		335			Lumenal (Potential).		O60677|Q9UN51	Silent	SNP	ENST00000319914.5	37	c.1005G>T	CCDS6373.1																																																																																				0.572	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		9	119	1	0	0.000274275	0.004482	0.000304945	9	119				
TRAPPC9	83696	broad.mit.edu	37	8	141262976	141262976	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:141262976C>A	ENST00000438773.2	-	16	2464	c.2331G>T	c.(2329-2331)caG>caT	p.Q777H	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.Q768H|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.Q875H	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	777					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.Q875H(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GCAAAGGGAACTGGGCAAGGG	0.473																																							uc003yvj.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2329-2331)CAG>CAT		trafficking protein particle complex 9 isoform							78.0	74.0	75.0					8																	141262976		2203	4300	6503	SO:0001583	missense	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141262976C>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.2331G>T	8.37:g.141262976C>A	ENSP00000405060:p.Gln777His					TRAPPC9_uc003yvh.2_Missense_Mutation_p.Q875H|TRAPPC9_uc010mel.1_Missense_Mutation_p.Q198H|TRAPPC9_uc003yvi.1_Missense_Mutation_p.Q768H	p.Q777H	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN			16	2465	-			777					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	ENST00000438773.2	37	c.2331G>T	CCDS55278.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.483|8.483	0.860275|0.860275	0.17178|0.17178	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773|ENST00000520857	.|.	.|.	.|.	5.08|5.08	3.25|3.25	0.37280|0.37280	.|.	0.362851|.	0.31335|.	N|.	0.007831|.	T|T	0.34832|0.34832	0.0911|0.0911	L|L	0.31065|0.31065	0.9|0.9	0.28221|0.28221	N|N	0.926504|0.926504	B;B;B;B|.	0.26602|.	0.125;0.154;0.077;0.102|.	B;B;B;B|.	0.28011|.	0.085;0.051;0.053;0.063|.	T|T	0.21109|0.21109	-1.0255|-1.0255	9|5	0.45353|.	T|.	0.12|.	.|.	10.4115|10.4115	0.44296|0.44296	0.0:0.7871:0.0:0.2129|0.0:0.7871:0.0:0.2129	.|.	875;777;768;875|.	A6NIF0;Q96Q05;Q96Q05-3;Q96Q05-2|.	.;TPPC9_HUMAN;.;.|.	H|F	875;768;777|621	.|.	ENSP00000373978:Q768H|.	Q|V	-|-	3|1	2|0	TRAPPC9|TRAPPC9	141332158|141332158	0.999000|0.999000	0.42202|0.42202	0.999000|0.999000	0.59377|0.59377	0.148000|0.148000	0.21650|0.21650	0.590000|0.590000	0.23954|0.23954	1.364000|1.364000	0.46038|0.46038	0.650000|0.650000	0.86243|0.86243	CAG|GTT		0.473	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		38	61	1	0	4.34086e-07	0.005524	5.65775e-07	38	61				
DMRT1	1761	broad.mit.edu	37	9	968030	968030	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:968030C>T	ENST00000382276.3	+	5	1162	c.1013C>T	c.(1012-1014)tCg>tTg	p.S338L	DMRT1_ENST00000569227.1_Missense_Mutation_p.S180L	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	338	Pro/Ser-rich.				cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S338L(1)		large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GTTTCCCTCTCGAGCAGCTCT	0.517																																							uc003zgv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1012-1014)TCG>TTG		doublesex and mab-3 related transcription factor							64.0	60.0	62.0					9																	968030		2203	4300	6503	SO:0001583	missense	1761				cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:968030C>T	AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.1013C>T	9.37:g.968030C>T	ENSP00000371711:p.Ser338Leu						p.S338L	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN		Lung(218;0.037)	5	1162	+		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)	338			Pro/Ser-rich.		B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	ENST00000382276.3	37	c.1013C>T	CCDS6442.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.037090	0.54896	.	.	ENSG00000137090	ENST00000382276	T	0.22945	1.93	5.38	5.38	0.77491	.	0.234157	0.45126	D	0.000387	T	0.53738	0.1815	M	0.84082	2.675	0.54753	D	0.999981	D	0.76494	0.999	P	0.61275	0.886	T	0.57365	-0.7824	10	0.54805	T	0.06	.	19.4992	0.95086	0.0:1.0:0.0:0.0	.	338	Q9Y5R6	DMRT1_HUMAN	L	338	ENSP00000371711:S338L	ENSP00000371711:S338L	S	+	2	0	DMRT1	958030	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.042000	0.64202	2.689000	0.91719	0.655000	0.94253	TCG		0.517	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051489.2	NM_021951		9	61	0	0	0	0.004482	0	9	61				
DMRT3	58524	broad.mit.edu	37	9	990652	990652	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:990652G>T	ENST00000190165.2	+	2	1104	c.1066G>T	c.(1066-1068)Ggg>Tgg	p.G356W		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	356			G -> V (in dbSNP:rs16927037).		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.G356W(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)		TCCCTTGGCTGGGCCTCTGCA	0.577																																							uc003zgw.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1066-1068)GGG>TGG		doublesex and mab-3 related transcription factor							73.0	70.0	71.0					9																	990652		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.chr9:990652G>T	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.1066G>T	9.37:g.990652G>T	ENSP00000190165:p.Gly356Trp						p.G356W	NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN		Lung(218;0.0196)	2	1104	+		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)	356					Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	ENST00000190165.2	37	c.1066G>T	CCDS6443.1	.	.	.	.	.	.	.	.	.	.	G	4.953	0.176984	0.09443	.	.	ENSG00000064218	ENST00000190165	T	0.22336	1.96	4.95	2.09	0.27110	.	0.552933	0.17182	N	0.183841	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	B	0.26147	0.143	B	0.14023	0.01	T	0.22277	-1.0221	10	0.59425	D	0.04	-8.5349	8.4727	0.32995	0.1392:0.1263:0.7345:0.0	.	356	Q9NQL9	DMRT3_HUMAN	W	356	ENSP00000190165:G356W	ENSP00000190165:G356W	G	+	1	0	DMRT3	980652	0.999000	0.42202	0.020000	0.16555	0.406000	0.30931	2.933000	0.48948	0.144000	0.18951	-1.036000	0.02392	GGG		0.577	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051490.1	NM_021240		12	67	1	0	1.5842e-08	0.001855	2.17619e-08	12	67				
FREM1	158326	broad.mit.edu	37	9	14823206	14823206	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:14823206C>A	ENST00000380880.3	-	13	3072	c.2289G>T	c.(2287-2289)ggG>ggT	p.G763G	FREM1_ENST00000422223.2_Silent_p.G763G|FREM1_ENST00000380881.4_Silent_p.G764G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	763					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.G764G(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TAAAGCAGATCCCATGCAAAG	0.443																																							uc003zlm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(2287-2289)GGG>GGT		FRAS1 related extracellular matrix 1 precursor							139.0	132.0	134.0					9																	14823206		1923	4131	6054	SO:0001819	synonymous_variant	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14823206C>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2289G>T	9.37:g.14823206C>A						FREM1_uc010mic.2_RNA	p.G763G	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	13	2879	-			763			CSPG 5.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	ENST00000380880.3	37	c.2289G>T	CCDS47952.1																																																																																				0.443	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966		43	81	1	0	1.57019e-19	0.007835	2.67857e-19	43	81				
MLLT3	4300	broad.mit.edu	37	9	20413979	20413979	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:20413979C>A	ENST00000380338.4	-	5	1151	c.865G>T	c.(865-867)Gat>Tat	p.D289Y	MLLT3_ENST00000475957.1_5'UTR|MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000429426.2_Missense_Mutation_p.D286Y|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	289					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.D289Y(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TCTTCAGAATCTGAAATGGGC	0.418			T	MLL	ALL																																		uc003zoe.2		NA		Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(865-867)GAT>TAT		myeloid/lymphoid or mixed-lineage leukemia							185.0	190.0	188.0					9																	20413979		2203	4300	6503	SO:0001583	missense	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20413979C>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.865G>T	9.37:g.20413979C>A	ENSP00000369695:p.Asp289Tyr					MLLT3_uc011lne.1_Missense_Mutation_p.D257Y|MLLT3_uc011lnf.1_Missense_Mutation_p.D286Y|MLLT3_uc003zof.2_Missense_Mutation_p.D90Y	p.D289Y	NM_004529	NP_004520	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	1124	-			289					B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Missense_Mutation	SNP	ENST00000380338.4	37	c.865G>T	CCDS6494.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143951	0.77888	.	.	ENSG00000171843	ENST00000380338;ENST00000429426;ENST00000540751	.	.	.	5.86	5.86	0.93980	.	0.044156	0.85682	D	0.000000	T	0.74419	0.3714	M	0.68593	2.085	0.80722	D	1	D;D	0.63046	0.992;0.992	P;P	0.54499	0.754;0.754	T	0.76323	-0.3001	9	0.87932	D	0	-13.6136	20.1819	0.98206	0.0:1.0:0.0:0.0	.	286;289	B7Z755;P42568	.;AF9_HUMAN	Y	289;286;328	.	ENSP00000369695:D289Y	D	-	1	0	MLLT3	20403979	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.829000	0.69316	2.777000	0.95525	0.655000	0.94253	GAT		0.418	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		64	181	1	0	2.19297e-23	0.00361	3.80309e-23	64	181				
IFNB1	3456	broad.mit.edu	37	9	21077762	21077762	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:21077762A>G	ENST00000380232.2	-	1	181	c.107T>C	c.(106-108)tTt>tCt	p.F36S		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	36					adaptive immune response (GO:0002250)|B cell activation involved in immune response (GO:0002312)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of T cell differentiation (GO:0045581)|negative regulation of T-helper 2 cell cytokine production (GO:2000552)|negative regulation of viral genome replication (GO:0045071)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of innate immune response (GO:0045089)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.F36S(1)		breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)		CTGACACTGAAAATTGCTGCT	0.463																																							uc003zok.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|kidney(1)	3						c.(106-108)TTT>TCT		interferon, beta 1, fibroblast precursor	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)						51.0	52.0	52.0					9																	21077762		2203	4300	6503	SO:0001583	missense	3456				activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity	g.chr9:21077762A>G		CCDS6495.1	9p22	2008-07-21			ENSG00000171855	ENSG00000171855		"""Interferons"""	5434	protein-coding gene	gene with protein product		147640		IFNB			Standard	NM_002176		Approved	IFB, IFF	uc003zok.3	P01574	OTTHUMG00000019652	ENST00000380232.2:c.107T>C	9.37:g.21077762A>G	ENSP00000369581:p.Phe36Ser						p.F36S	NM_002176	NP_002167	P01574	IFNB_HUMAN		GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	1	182	-			36					Q5VWC9	Missense_Mutation	SNP	ENST00000380232.2	37	c.107T>C	CCDS6495.1	.	.	.	.	.	.	.	.	.	.	A	7.691	0.691066	0.15039	.	.	ENSG00000171855	ENST00000380232	T	0.03004	4.08	5.42	-10.8	0.00216	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.437550	0.01194	N	0.007417	T	0.01661	0.0053	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.44544	-0.9321	10	0.48119	T	0.1	6.2934	1.8667	0.03200	0.1434:0.1862:0.3382:0.3322	.	36	P01574	IFNB_HUMAN	S	36	ENSP00000369581:F36S	ENSP00000369581:F36S	F	-	2	0	IFNB1	21067762	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.610000	0.05629	-1.570000	0.01665	-0.297000	0.09499	TTT		0.463	IFNB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051881.1	NM_002176		6	62	0	0	0	0.001168	0	6	62				
IFNA7	3444	broad.mit.edu	37	9	21202097	21202097	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:21202097C>A	ENST00000239347.3	-	1	107	c.68G>T	c.(67-69)gGc>gTc	p.G23V		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	23					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.G23V(1)		endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAGATCACAGCCCAGAGAGCA	0.502																																							uc003zop.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(67-69)GGC>GTC		interferon, alpha 7 precursor							88.0	86.0	87.0					9																	21202097		2203	4300	6503	SO:0001583	missense	3444				blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21202097C>A		CCDS34995.1	9p22	2010-12-10			ENSG00000214042	ENSG00000214042		"""Interferons"""	5428	protein-coding gene	gene with protein product		147567				1385305	Standard	NM_021057		Approved	IFNA-J, IFN-alphaJ	uc003zop.1	P01567	OTTHUMG00000019662	ENST00000239347.3:c.68G>T	9.37:g.21202097C>A	ENSP00000239347:p.Gly23Val					IFNA14_uc003zoo.1_Intron	p.G23V	NM_021057	NP_066401	P01567	IFNA7_HUMAN		GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)	1	108	-			23					Q14607|Q5VV14	Missense_Mutation	SNP	ENST00000239347.3	37	c.68G>T	CCDS34995.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.985106	0.53934	.	.	ENSG00000214042	ENST00000239347	T	0.03272	3.99	3.56	-3.39	0.04868	Four-helical cytokine-like, core (1);	0.590041	0.16895	N	0.195148	T	0.13157	0.0319	M	0.93594	3.435	0.18873	N	0.999989	D	0.63880	0.993	P	0.55667	0.781	T	0.01643	-1.1305	10	0.87932	D	0	.	5.3726	0.16148	0.0:0.252:0.4461:0.3019	.	23	P01567	IFNA7_HUMAN	V	23	ENSP00000239347:G23V	ENSP00000239347:G23V	G	-	2	0	IFNA7	21192097	0.000000	0.05858	0.001000	0.08648	0.337000	0.28794	-0.672000	0.05244	-0.526000	0.06383	0.586000	0.80456	GGC		0.502	IFNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051891.1	NM_021057		9	114	1	0	1.12685e-05	0.004482	1.36319e-05	9	114				
ZCCHC7	84186	broad.mit.edu	37	9	37126589	37126589	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:37126589A>G	ENST00000336755.5	+	2	366	c.260A>G	c.(259-261)gAt>gGt	p.D87G	ZCCHC7_ENST00000322831.6_Missense_Mutation_p.D86G|ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000461038.1_3'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	87						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.D87G(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		CAGCTGTCAGATGGGTCAGAG	0.398																																							uc003zzq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(259-261)GAT>GGT		zinc finger, CCHC domain containing 7							163.0	160.0	161.0					9																	37126589		2203	4300	6503	SO:0001583	missense	84186						nucleic acid binding|zinc ion binding	g.chr9:37126589A>G	AK026264	CCDS6608.2	9p13.1	2008-05-02			ENSG00000147905	ENSG00000147905		"""Zinc fingers, CCHC domain containing"""	26209	protein-coding gene	gene with protein product							Standard	NM_032226		Approved	FLJ22611, AIR1	uc003zzq.3	Q8N3Z6	OTTHUMG00000019915	ENST00000336755.5:c.260A>G	9.37:g.37126589A>G	ENSP00000337839:p.Asp87Gly					ZCCHC7_uc011lqh.1_Intron|ZCCHC7_uc011lqi.1_Missense_Mutation_p.D86G|ZCCHC7_uc010mlt.2_Missense_Mutation_p.D86G|ZCCHC7_uc003zzs.1_Missense_Mutation_p.D86G	p.D87G	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN		GBM - Glioblastoma multiforme(29;0.0137)	2	433	+			87					B2RCI4|D3DRQ0|Q5T0Q8|Q5T0Q9|Q5T0R0|Q8N2M1|Q8N4J2|Q8TBK8|Q9H648|Q9P0F0	Missense_Mutation	SNP	ENST00000336755.5	37	c.260A>G	CCDS6608.2	.	.	.	.	.	.	.	.	.	.	A	19.49	3.838087	0.71373	.	.	ENSG00000147905	ENST00000336755;ENST00000322831	T;T	0.54866	1.23;0.55	5.64	5.64	0.86602	.	0.258323	0.37857	N	0.001908	T	0.70448	0.3225	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.72640	-0.4232	10	0.62326	D	0.03	-20.7963	16.1412	0.81522	1.0:0.0:0.0:0.0	.	87;87	Q8N3Z6-2;Q8N3Z6	.;ZCHC7_HUMAN	G	87;86	ENSP00000337839:D87G;ENSP00000316365:D86G	ENSP00000316365:D86G	D	+	2	0	ZCCHC7	37116589	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.510000	0.60455	2.267000	0.75376	0.519000	0.50382	GAT		0.398	ZCCHC7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052453.2	NM_032226		30	153	0	0	0	0.010818	0	30	153				
FRMPD1	22844	broad.mit.edu	37	9	37746358	37746358	+	Silent	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:37746358A>C	ENST00000539465.1	+	16	4922	c.4329A>C	c.(4327-4329)ggA>ggC	p.G1443G	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.G1443G			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1443						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.G1443G(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGGGGGTTGGAAACAAACATC	0.567																																							uc004aag.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(4327-4329)GGA>GGC		FERM and PDZ domain containing 1							18.0	20.0	19.0					9																	37746358		2203	4299	6502	SO:0001819	synonymous_variant	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37746358A>C	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4329A>C	9.37:g.37746358A>C						FRMPD1_uc004aah.1_Silent_p.G1443G	p.G1443G	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4373	+			1443					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	c.4329A>C	CCDS6612.1																																																																																				0.567	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		8	7	0	0	0	0.00308	0	8	7				
PGM5	5239	broad.mit.edu	37	9	71006459	71006459	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:71006459C>A	ENST00000396396.1	+	5	936	c.707C>A	c.(706-708)cCt>cAt	p.P236H	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Missense_Mutation_p.P236H	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	236					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)	p.P236H(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GTTATGGGACCTTATGTGAGA	0.423																																							uc004agr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(706-708)CCT>CAT		phosphoglucomutase 5							6.0	6.0	6.0					9																	71006459		1922	4011	5933	SO:0001583	missense	5239				cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	g.chr9:71006459C>A	L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.707C>A	9.37:g.71006459C>A	ENSP00000379678:p.Pro236His						p.P236H	NM_021965	NP_068800	Q15124	PGM5_HUMAN			5	936	+			236					B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	ENST00000396396.1	37	c.707C>A	CCDS6622.2	.	.	.	.	.	.	.	.	.	.	.	22.7	4.325501	0.81580	.	.	ENSG00000154330	ENST00000396396;ENST00000396392;ENST00000377314;ENST00000431583	T;T;T	0.63744	-0.06;-0.06;-0.06	4.92	4.92	0.64577	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (1);Alpha-D-phosphohexomutase, alpha/beta/alpha domain II (1);	0.000000	0.85682	D	0.000000	D	0.83431	0.5253	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87756	0.2595	10	0.87932	D	0	.	16.8751	0.86050	0.0:1.0:0.0:0.0	.	236	Q15124	PGM5_HUMAN	H	236;236;187;153	ENSP00000379678:P236H;ENSP00000379674:P236H;ENSP00000394864:P153H	ENSP00000366531:P187H	P	+	2	0	PGM5	70196279	1.000000	0.71417	0.992000	0.48379	0.988000	0.76386	7.716000	0.84723	2.274000	0.75844	0.555000	0.69702	CCT		0.423	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052548.2	NM_021965		9	44	1	0	4.68919e-08	0.008291	6.30865e-08	9	44				
RORB	6096	broad.mit.edu	37	9	77275585	77275585	+	Silent	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:77275585C>T	ENST00000396204.2	+	5	723	c.723C>T	c.(721-723)acC>acT	p.T241T	RORB_ENST00000376896.3_Silent_p.T230T			Q92753	RORB_HUMAN	RAR-related orphan receptor B	241	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.T230T(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	GTCAATACACCATGGAAGAGC	0.403																																							uc004aji.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(721-723)ACC>ACT		RAR-related orphan receptor B							127.0	125.0	126.0					9																	77275585		2203	4300	6503	SO:0001819	synonymous_variant	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77275585C>T	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.723C>T	9.37:g.77275585C>T						RORB_uc004ajh.2_Silent_p.T230T	p.T241T	NM_006914	NP_008845	Q92753	RORB_HUMAN			5	772	+			241			Ligand-binding (Potential).		Q8WX73	Silent	SNP	ENST00000396204.2	37	c.723C>T																																																																																					0.403	RORB-201	KNOWN	basic	protein_coding	protein_coding				8	78	0	0	0	0.004482	0	8	78				
SPATA31D1	389763	broad.mit.edu	37	9	84608624	84608624	+	Missense_Mutation	SNP	G	G	T	rs548006280		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:84608624G>T	ENST00000344803.2	+	4	3286	c.3239G>T	c.(3238-3240)cGg>cTg	p.R1080L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1080					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R1080L(2)									GAAAGTGTCCGGACAACAGAG	0.493																																							uc004amn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(3238-3240)CGG>CTG		hypothetical protein LOC389763							49.0	52.0	51.0					9																	84608624		1901	4121	6022	SO:0001583	missense	389763					integral to membrane		g.chr9:84608624G>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3239G>T	9.37:g.84608624G>T	ENSP00000341988:p.Arg1080Leu						p.R1080L	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	3286	+			1080						Missense_Mutation	SNP	ENST00000344803.2	37	c.3239G>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	g	7.240	0.601039	0.13939	.	.	ENSG00000214929	ENST00000344803	T	0.05199	3.48	2.4	-4.09	0.03951	.	.	.	.	.	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.29909	0.261	B	0.31390	0.129	T	0.44081	-0.9351	9	0.39692	T	0.17	-1.4382	5.0698	0.14600	0.2789:0.2043:0.5168:0.0	.	1080	Q6ZQQ2	F75D1_HUMAN	L	1080	ENSP00000341988:R1080L	ENSP00000341988:R1080L	R	+	2	0	FAM75D1	83798444	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.106000	0.03319	-0.920000	0.03799	-1.296000	0.01341	CGG		0.493	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		8	81	1	0	0.000157383	0.00308	0.000178208	8	81				
NTRK2	4915	broad.mit.edu	37	9	87366928	87366928	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:87366928G>A	ENST00000323115.4	+	11	1677	c.1324G>A	c.(1324-1326)Gtg>Atg	p.V442M	NTRK2_ENST00000395882.1_Missense_Mutation_p.V442M|NTRK2_ENST00000395866.2_Missense_Mutation_p.V286M|NTRK2_ENST00000359847.3_Missense_Mutation_p.V442M|NTRK2_ENST00000376214.1_Missense_Mutation_p.V442M|NTRK2_ENST00000277120.3_Missense_Mutation_p.V442M|NTRK2_ENST00000376213.1_Missense_Mutation_p.V442M|NTRK2_ENST00000304053.6_Missense_Mutation_p.V442M|NTRK2_ENST00000376208.1_Missense_Mutation_p.V442M			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	442					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)	p.V442M(3)		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)	GATTGCGTCTGTGGTGGGATT	0.418										TSP Lung(25;0.17)																													uc004aoa.1		NA																	3	Substitution - Missense(3)		lung(3)	lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						c.(1324-1326)GTG>ATG		neurotrophic tyrosine kinase, receptor, type 2							367.0	289.0	315.0					9																	87366928		2203	4300	6503	SO:0001583	missense	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.chr9:87366928G>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.1324G>A	9.37:g.87366928G>A	ENSP00000314586:p.Val442Met	TSP Lung(25;0.17)				NTRK2_uc004anv.1_Missense_Mutation_p.V429M|NTRK2_uc004any.1_Missense_Mutation_p.V442M|NTRK2_uc004anz.1_Missense_Mutation_p.V442M|NTRK2_uc011lsz.1_Missense_Mutation_p.V442M|NTRK2_uc011lta.1_Missense_Mutation_p.V442M|NTRK2_uc004aob.1_Missense_Mutation_p.V442M|NTRK2_uc011ltb.1_Missense_Mutation_p.V286M|NTRK2_uc004aoc.2_Translation_Start_Site	p.V442M	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN			14	2262	+			442			Helical; (Potential).		B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Missense_Mutation	SNP	ENST00000323115.4	37	c.1324G>A	CCDS35050.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835432	0.71373	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	T;T;T;T;T;T;T;T;T	0.75821	-0.89;-0.97;-0.54;-0.58;-0.53;-0.89;-0.97;-0.54;-0.51	6.17	5.21	0.72293	.	0.139171	0.50627	D	0.000119	T	0.79902	0.4526	L	0.53249	1.67	0.42947	D	0.994368	P;P;P;P;P;P;P;P	0.52577	0.911;0.954;0.954;0.911;0.628;0.917;0.911;0.946	B;P;P;P;P;P;P;P	0.59643	0.391;0.813;0.861;0.595;0.482;0.747;0.494;0.771	T	0.79638	-0.1720	10	0.54805	T	0.06	.	11.666	0.51374	0.0:0.0:0.6753:0.3247	.	286;442;442;442;442;442;488;442	B4DFV9;Q16620-3;Q16620-5;Q5VWE5;Q16620;Q16620-4;Q59GJ1;Q16620-2	.;.;.;.;NTRK2_HUMAN;.;.;.	M	442;442;442;442;442;442;442;442;286	ENSP00000365387:V442M;ENSP00000365386:V442M;ENSP00000379221:V442M;ENSP00000365381:V442M;ENSP00000306167:V442M;ENSP00000277120:V442M;ENSP00000314586:V442M;ENSP00000352906:V442M;ENSP00000379207:V286M	ENSP00000277120:V442M	V	+	1	0	NTRK2	86556748	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.704000	0.47118	2.941000	0.99782	0.655000	0.94253	GTG		0.418	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052882.1			5	72	0	0	0	0.001168	0	5	72				
ZCCHC6	79670	broad.mit.edu	37	9	88925683	88925683	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:88925683T>C	ENST00000375963.3	-	18	3488	c.3316A>G	c.(3316-3318)Att>Gtt	p.I1106V	ZCCHC6_ENST00000375960.2_Missense_Mutation_p.I870V|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.I1106V|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.I395V|ZCCHC6_ENST00000375957.1_Missense_Mutation_p.I44V	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	1106					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.I1106V(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AACTTCACAATTGGCACCTTT	0.343																																							uc004aoq.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3316-3318)ATT>GTT		zinc finger, CCHC domain containing 6							118.0	109.0	112.0					9																	88925683		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88925683T>C	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.3316A>G	9.37:g.88925683T>C	ENSP00000365130:p.Ile1106Val					ZCCHC6_uc010mqe.2_Missense_Mutation_p.I44V|ZCCHC6_uc011ltf.1_Intron|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.I870V|ZCCHC6_uc004aou.2_Missense_Mutation_p.I1106V	p.I1106V	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN			18	3531	-			1106					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.3316A>G	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378116	0.82682	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375957;ENST00000375963	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	M	0.72894	2.215	0.51233	D	0.999918	P;D;P	0.89917	0.948;1.0;0.871	D;D;P	0.87578	0.949;0.998;0.859	T	0.72503	-0.4273	10	0.48119	T	0.1	-9.895	15.7597	0.78070	0.0:0.0:0.0:1.0	.	1106;870;1106	Q5VYS8-6;Q5VYS8-4;Q5VYS8	.;.;TUT7_HUMAN	V	395;870;1106;44;1106	ENSP00000277141:I395V;ENSP00000365127:I870V;ENSP00000365128:I1106V;ENSP00000365124:I44V;ENSP00000365130:I1106V	ENSP00000277141:I395V	I	-	1	0	ZCCHC6	88115503	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.469000	0.80959	2.304000	0.77564	0.528000	0.53228	ATT		0.343	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617		5	36	0	0	0	0.001168	0	5	36				
SECISBP2	79048	broad.mit.edu	37	9	91943726	91943726	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:91943726G>T	ENST00000375807.3	+	5	797	c.726G>T	c.(724-726)tgG>tgT	p.W242C	SECISBP2_ENST00000339901.4_Missense_Mutation_p.W169C|SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000534113.2_Missense_Mutation_p.W174C	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	242					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)	p.W242C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AACCCAAGTGGGGACCTGTCC	0.438																																							uc004aqj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(724-726)TGG>TGT		SECIS binding protein 2							88.0	81.0	83.0					9																	91943726		2203	4300	6503	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91943726G>T	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.726G>T	9.37:g.91943726G>T	ENSP00000364965:p.Trp242Cys					SECISBP2_uc010mqn.1_Missense_Mutation_p.W242C|SECISBP2_uc004aqi.1_Missense_Mutation_p.W169C|SECISBP2_uc011ltk.1_Missense_Mutation_p.W241C|SECISBP2_uc004aqk.1_Missense_Mutation_p.W169C|SECISBP2_uc010mqo.1_5'UTR|SECISBP2_uc011ltl.1_Missense_Mutation_p.W174C	p.W242C	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN			5	806	+			242					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.726G>T	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137034	0.37728	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113;ENST00000425851	T;T;T;T	0.77098	-1.03;-1.07;-1.06;0.52	4.97	4.97	0.65823	.	0.000000	0.50627	D	0.000114	T	0.81182	0.4769	L	0.32530	0.975	0.58432	D	0.999998	D;D;D;D;D	0.89917	0.997;0.999;1.0;0.998;1.0	P;D;D;P;D	0.68943	0.781;0.915;0.961;0.87;0.961	T	0.81906	-0.0718	10	0.59425	D	0.04	-10.3105	13.9084	0.63850	0.0:0.0:1.0:0.0	.	262;241;169;242;174	Q59H19;B4DZC7;Q96T21-2;Q96T21;F8W892	.;.;.;SEBP2_HUMAN;.	C	242;262;169;174;77	ENSP00000364965:W242C;ENSP00000364959:W169C;ENSP00000436650:W174C;ENSP00000414288:W77C	ENSP00000364959:W169C	W	+	3	0	SECISBP2	91133546	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	2.975000	0.49281	2.746000	0.94184	0.460000	0.39030	TGG		0.438	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		11	38	1	0	2.27111e-07	0.001368	2.98996e-07	11	38				
COL15A1	1306	broad.mit.edu	37	9	101807016	101807016	+	Splice_Site	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:101807016G>T	ENST00000375001.3	+	26	3066		c.e26-1			NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1						angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.?(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCCTGTTTTAGGGTGAACCTG	0.463																																							uc004azb.1		NA																	1	Unknown(1)		lung(1)	ovary(6)	6						c.e26-1		alpha 1 type XV collagen precursor							94.0	88.0	90.0					9																	101807016		2203	4300	6503	SO:0001630	splice_region_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101807016G>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2644-1G>T	9.37:g.101807016G>T							p.G882_splice	NM_001855	NP_001846	P39059	COFA1_HUMAN			26	2850	+		Acute lymphoblastic leukemia(62;0.0562)						Q5T6J4|Q9UDC5|Q9Y4W4	Splice_Site	SNP	ENST00000375001.3	37	c.2644_splice	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265083	0.59431	.	.	ENSG00000204291	ENST00000375001	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5084	0.67767	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL15A1	100846837	1.000000	0.71417	0.998000	0.56505	0.681000	0.39784	5.369000	0.66138	2.487000	0.83934	0.591000	0.81541	.		0.463	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	Intron	4	43	1	0	1.23904e-05	0.000602	1.48856e-05	4	43				
OR13D1	286365	broad.mit.edu	37	9	107457137	107457137	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:107457137C>A	ENST00000318763.5	+	1	478	c.435C>A	c.(433-435)gtC>gtA	p.V145V		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V145V(1)		large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CTGAGTGTGTCCTCCTGGCTG	0.488																																							uc011lvs.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(433-435)GTC>GTA		olfactory receptor, family 13, subfamily D,							158.0	147.0	151.0					9																	107457137		2203	4300	6503	SO:0001819	synonymous_variant	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107457137C>A		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.435C>A	9.37:g.107457137C>A							p.V145V	NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN			1	435	+			145			Helical; Name=3; (Potential).		B9EIS1|Q6IFL1	Silent	SNP	ENST00000318763.5	37	c.435C>A	CCDS35094.1																																																																																				0.488	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			11	131	1	0	1.08611e-07	0.010729	1.43895e-07	11	131				
SLC44A1	23446	broad.mit.edu	37	9	108126844	108126844	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:108126844G>T	ENST00000374720.3	+	10	1343	c.1096G>T	c.(1096-1098)Gtt>Ttt	p.V366F	SLC44A1_ENST00000374724.1_Missense_Mutation_p.V366F|SLC44A1_ENST00000343170.7_Missense_Mutation_p.V158F|SLC44A1_ENST00000374723.1_Missense_Mutation_p.V366F	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	366					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)	p.V366F(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AGGCAGTCCTGTTCAGAATGA	0.438																																							uc004bcn.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(1096-1098)GTT>TTT		CDW92 antigen	Choline(DB00122)						151.0	153.0	153.0					9																	108126844		2203	4300	6503	SO:0001583	missense	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108126844G>T	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1096G>T	9.37:g.108126844G>T	ENSP00000363852:p.Val366Phe					SLC44A1_uc010mtk.1_Missense_Mutation_p.V366F|SLC44A1_uc004bco.1_Missense_Mutation_p.V158F	p.V366F	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN			10	1317	+			366			Cytoplasmic (Potential).		A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	c.1096G>T	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.278470	0.23307	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.7	4.79	0.61399	.	0.246856	0.40640	N	0.001057	T	0.16981	0.0408	L	0.33753	1.03	0.45477	D	0.998449	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.002;0.002;0.004	T	0.06826	-1.0805	10	0.13108	T	0.6	-6.6304	9.8074	0.40801	0.0706:0.0:0.7921:0.1372	.	366;366;366	Q8WWI5-3;Q8WWI5-2;Q8WWI5	.;.;CTL1_HUMAN	F	366;366;366;158	ENSP00000363855:V366F;ENSP00000363852:V366F;ENSP00000363856:V366F;ENSP00000341856:V158F	ENSP00000341856:V158F	V	+	1	0	SLC44A1	107166665	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.340000	0.52143	2.683000	0.91414	0.650000	0.86243	GTT		0.438	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546		10	175	1	0	4.68919e-08	0.008291	6.30865e-08	10	175				
SLC46A2	57864	broad.mit.edu	37	9	115648836	115648836	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:115648836A>G	ENST00000374228.4	-	3	1505	c.1274T>C	c.(1273-1275)tTg>tCg	p.L425S	RP11-408O19.5_ENST00000605480.1_RNA	NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	425					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.L425S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CTTGTTGTACAAGGTGGATGT	0.527																																							uc004bgk.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1273-1275)TTG>TCG		solute carrier family 46, member 2							220.0	171.0	187.0					9																	115648836		2203	4300	6503	SO:0001583	missense	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115648836A>G	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.1274T>C	9.37:g.115648836A>G	ENSP00000363345:p.Leu425Ser						p.L425S	NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN			3	1506	-			425			Helical; Name=11; (Potential).		B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	ENST00000374228.4	37	c.1274T>C	CCDS6786.1	.	.	.	.	.	.	.	.	.	.	A	9.208	1.030265	0.19512	.	.	ENSG00000119457	ENST00000374228	D	0.83673	-1.75	5.79	3.14	0.36123	Major facilitator superfamily domain, general substrate transporter (1);	1.219030	0.05428	N	0.545340	T	0.72285	0.3441	N	0.14661	0.345	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.60826	-0.7186	10	0.59425	D	0.04	-1.2024	8.3766	0.32447	0.7661:0.0:0.2339:0.0	.	425	Q9BY10	TSCOT_HUMAN	S	425	ENSP00000363345:L425S	ENSP00000363345:L425S	L	-	2	0	SLC46A2	114688657	0.013000	0.17824	0.392000	0.26245	0.598000	0.36846	1.129000	0.31381	1.037000	0.40024	0.451000	0.29950	TTG		0.527	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051		22	75	0	0	0	0.003954	0	22	75				
TLR4	7099	broad.mit.edu	37	9	120474743	120474743	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:120474743C>A	ENST00000355622.6	+	3	438	c.337C>A	c.(337-339)Ccc>Acc	p.P113T	TLR4_ENST00000394487.4_Missense_Mutation_p.P73T|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	113					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.P113T(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GACAGGAAACCCCATCCAGAG	0.443																																							uc004bjz.2		NA																	2	Substitution - Missense(2)	p.P113T(1)	lung(2)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(337-339)CCC>ACC		toll-like receptor 4 precursor							55.0	56.0	55.0					9																	120474743		2203	4300	6503	SO:0001583	missense	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120474743C>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.337C>A	9.37:g.120474743C>A	ENSP00000363089:p.Pro113Thr					TLR4_uc004bka.2_Missense_Mutation_p.P73T|TLR4_uc004bkb.2_5'UTR	p.P113T	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	628	+			113			LRR 3.|Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	ENST00000355622.6	37	c.337C>A	CCDS6818.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044352	0.55110	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.57907	0.46;0.37	5.35	5.35	0.76521	.	0.096931	0.46145	D	0.000306	T	0.67571	0.2907	L	0.57536	1.79	0.43652	D	0.996065	D	0.89917	1.0	D	0.79108	0.992	T	0.69694	-0.5076	10	0.72032	D	0.01	.	12.8533	0.57871	0.0:0.9152:0.0:0.0848	.	113	O00206	TLR4_HUMAN	T	73;113	ENSP00000377997:P73T;ENSP00000363089:P113T	ENSP00000363089:P113T	P	+	1	0	TLR4	119514564	0.997000	0.39634	1.000000	0.80357	0.470000	0.32858	2.304000	0.43655	2.510000	0.84645	0.655000	0.94253	CCC		0.443	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		5	61	1	0	0.000602214	0.000602	0.000659027	5	61				
NDUFA8	4702	broad.mit.edu	37	9	124910549	124910550	+	Nonsense_Mutation	DNP	TT	TT	AG			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	TT	TT	-	-	TT	TT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:124910549_124910550TT>AG	ENST00000373768.3	-	3	363_364	c.222_223AA>CT	c.(220-225)atAAaa>atCTaa	p.K75*	NDUFA8_ENST00000537618.1_Nonsense_Mutation_p.K75*	NM_014222.2	NP_055037.1	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	75	CHCH 2.				cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|protein complex binding (GO:0032403)	p.K75*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						CAGTGACGTTTTATCTGCCTGG	0.396																																							uc004blv.2		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(220-225)ATAAAA>ATCTAA		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)																																			SO:0001587	stop_gained	4702				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr9:124910549_124910550TT>AG	AF044953	CCDS6835.1	9q33.2	2011-07-04	2002-08-29		ENSG00000119421	ENSG00000119421		"""Mitochondrial respiratory chain complex / Complex I"""	7692	protein-coding gene	gene with protein product	"""complex I PGIV subunit"""	603359	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8 (19kD, PGIV)"""			9763677	Standard	NM_014222		Approved	PGIV, MGC793	uc004blv.3	P51970	OTTHUMG00000020598	ENST00000373768.3:c.222_223delinsAG	9.37:g.124910549_124910550delinsAG	ENSP00000362873:p.Lys75*						p.K75*	NM_014222	NP_055037	P51970	NDUA8_HUMAN			3	364_365	-			75			CHCH 2.		B1AM93|Q9Y6N0	Nonsense_Mutation	DNP	ENST00000373768.3	37	c.222_223AA>CT	CCDS6835.1																																																																																				0.396	NDUFA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053909.1	NM_014222		7	80	0	0	0	0.004672	0	7	80				
OR1L6	392390	broad.mit.edu	37	9	125512544	125512544	+	Missense_Mutation	SNP	C	C	T	rs377073162		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:125512544C>T	ENST00000373684.1	+	1	526	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	OR1L6_ENST00000304720.2_Missense_Mutation_p.R140W			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R176W(1)		breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TATGAAACCACGGCATTGCCT	0.532																																							uc011lzc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(526-528)CGG>TGG		olfactory receptor, family 1, subfamily L,							210.0	164.0	179.0					9																	125512544		2203	4300	6503	SO:0001583	missense	392390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125512544C>T		CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"""GPCR / Class A : Olfactory receptors"""	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.526C>T	9.37:g.125512544C>T	ENSP00000362788:p.Arg176Trp						p.R176W	NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN			1	526	+			176			Cytoplasmic (Potential).		Q6IFM8|Q96R80	Missense_Mutation	SNP	ENST00000373684.1	37	c.526C>T		.	.	.	.	.	.	.	.	.	.	.	3.152	-0.173952	0.06421	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.01629	4.72;4.72	4.61	-3.0	0.05480	GPCR, rhodopsin-like superfamily (1);	1.200980	0.06117	N	0.668242	T	0.03178	0.0093	M	0.72479	2.2	0.09310	N	1	B	0.23185	0.081	B	0.19946	0.027	T	0.43718	-0.9374	10	0.42905	T	0.14	1.6564	10.3633	0.44008	0.7303:0.1908:0.0:0.0789	.	176	Q8NGR2	OR1L6_HUMAN	W	176;140	ENSP00000362788:R176W;ENSP00000304235:R140W	ENSP00000304235:R140W	R	+	1	2	OR1L6	124552365	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-2.869000	0.00721	-0.285000	0.09089	-0.848000	0.03037	CGG		0.532	OR1L6-201	KNOWN	basic	protein_coding	protein_coding				5	185	0	0	0	0.001855	0	5	185				
TTC16	158248	broad.mit.edu	37	9	130479240	130479240	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:130479240T>A	ENST00000373289.3	+	2	216	c.136T>A	c.(136-138)Tgt>Agt	p.C46S	TTC16_ENST00000393748.4_Intron|PTRH1_ENST00000543175.1_5'Flank|PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Splice_Site|PTRH1_ENST00000423807.1_5'Flank	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	46								p.C46S(1)		central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CCAAAGCATCTGTGATGTAAA	0.557																																							uc004brq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(136-138)TGT>AGT		tetratricopeptide repeat domain 16							130.0	113.0	119.0					9																	130479240		2203	4300	6503	SO:0001583	missense	158248						binding	g.chr9:130479240T>A	AK057342	CCDS6875.1	9q34.13	2013-01-10			ENSG00000167094	ENSG00000167094		"""Tetratricopeptide (TTC) repeat domain containing"""	26536	protein-coding gene	gene with protein product						12477932	Standard	NM_144965		Approved	FLJ32780	uc004brq.1	Q8NEE8	OTTHUMG00000020711	ENST00000373289.3:c.136T>A	9.37:g.130479240T>A	ENSP00000362386:p.Cys46Ser					PTRH1_uc004brm.2_5'Flank|PTRH1_uc004bro.2_5'Flank|PTRH1_uc010mxm.2_Splice_Site|PTRH1_uc011mah.1_Splice_Site|TTC16_uc011mai.1_Missense_Mutation_p.C46S|TTC16_uc004brr.1_5'Flank	p.C46S	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN			2	203	+			46					B4DYG4|B5ME24|Q5JU66|Q96M72	Missense_Mutation	SNP	ENST00000373289.3	37	c.136T>A	CCDS6875.1	.	.	.	.	.	.	.	.	.	.	T	5.042	0.193487	0.09599	.	.	ENSG00000167094	ENST00000373289	T	0.14266	2.52	3.8	0.849	0.18972	.	1.838340	0.02973	N	0.144561	T	0.07324	0.0185	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.28073	-1.0055	10	0.09338	T	0.73	-0.0024	3.1801	0.06582	0.235:0.0:0.5446:0.2204	.	46;46	B4DZ42;Q8NEE8	.;TTC16_HUMAN	S	46	ENSP00000362386:C46S	ENSP00000362386:C46S	C	+	1	0	TTC16	129519061	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	0.236000	0.17967	0.064000	0.16427	-0.695000	0.03696	TGT		0.557	TTC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054224.1	NM_144965		5	63	0	0	0	0.000602	0	5	63				
NCS1	23413	broad.mit.edu	37	9	132982036	132982036	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:132982036G>T	ENST00000372398.3	+	4	347	c.261G>T	c.(259-261)caG>caT	p.Q87H	NCS1_ENST00000458469.1_Missense_Mutation_p.Q69H	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	87	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion transmembrane transport (GO:0070588)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of exocytosis (GO:0045921)|regulation of neuron projection development (GO:0010975)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|voltage-gated calcium channel activity (GO:0005245)	p.Q87H(1)		large_intestine(1)|lung(4)|stomach(1)	6						AGTTCATCCAGGCGCTGTCGG	0.637																																					Melanoma(30;182 1162 22581 33240)	Melanoma(30;182 1162 22581 33240)	uc004bzi.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(259-261)CAG>CAT		frequenin homolog isoform 1							130.0	109.0	116.0					9																	132982036		2203	4300	6503	SO:0001583	missense	23413				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding	g.chr9:132982036G>T	AF186409	CCDS6932.1	9q34.11	2013-01-10	2010-01-27	2010-01-27	ENSG00000107130	ENSG00000107130		"""EF-hand domain containing"""	3953	protein-coding gene	gene with protein product		603315	"""frequenin (Drosophila) homolog"", ""frequenin homolog (Drosophila)"""	FREQ		11092894	Standard	NM_014286		Approved	NCS-1	uc004bzi.2	P62166	OTTHUMG00000020801	ENST00000372398.3:c.261G>T	9.37:g.132982036G>T	ENSP00000361475:p.Gln87His					NCS1_uc010myz.1_Missense_Mutation_p.Q69H	p.Q87H	NM_014286	NP_055101	P62166	NCS1_HUMAN			4	347	+			87			EF-hand 2.		E9PAY3|P36610|Q9UK26	Missense_Mutation	SNP	ENST00000372398.3	37	c.261G>T	CCDS6932.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327344	0.24080	.	.	ENSG00000107130	ENST00000372398;ENST00000458469	T;T	0.63417	-0.04;-0.04	4.57	4.57	0.56435	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	L	0.37697	1.125	0.80722	D	1	P;P	0.47253	0.892;0.892	P;P	0.44394	0.448;0.448	T	0.56245	-0.8011	10	0.49607	T	0.09	.	10.0605	0.42273	0.0931:0.0:0.9069:0.0	.	69;87	E9PAY3;P62166	.;NCS1_HUMAN	H	87;69	ENSP00000361475:Q87H;ENSP00000404103:Q69H	ENSP00000361475:Q87H	Q	+	3	2	NCS1	132021857	1.000000	0.71417	1.000000	0.80357	0.078000	0.17371	3.364000	0.52328	2.065000	0.61736	0.563000	0.77884	CAG		0.637	NCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054637.1	NM_014286		9	47	1	0	0.000274275	0.004482	0.000304945	9	47				
GTF3C4	9329	broad.mit.edu	37	9	135553434	135553434	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:135553434A>C	ENST00000372146.4	+	2	992	c.428A>C	c.(427-429)cAg>cCg	p.Q143P	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	143					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)	p.Q143P(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ACGGTCAGTCAGACTTTCATG	0.478																																					Pancreas(142;417 1875 11086 31973 47667)	Pancreas(142;417 1875 11086 31973 47667)	uc010mzv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(427-429)CAG>CCG		general transcription factor IIIC 4							89.0	88.0	88.0					9																	135553434		2203	4300	6503	SO:0001583	missense	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135553434A>C	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.428A>C	9.37:g.135553434A>C	ENSP00000361219:p.Gln143Pro					GTF3C4_uc010mzw.2_RNA	p.Q143P	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	686	+			143					Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	c.428A>C	CCDS6953.1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.620827	0.66787	.	.	ENSG00000125484	ENST00000372146	T	0.37058	1.22	5.72	5.72	0.89469	Transcription factor IIIC, 90kDa subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46665	-0.9175	10	0.51188	T	0.08	-25.4823	14.8343	0.70172	1.0:0.0:0.0:0.0	.	143	Q9UKN8	TF3C4_HUMAN	P	143	ENSP00000361219:Q143P	ENSP00000361219:Q143P	Q	+	2	0	GTF3C4	134543255	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.737000	0.91562	2.187000	0.69744	0.459000	0.35465	CAG		0.478	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			6	70	0	0	0	0.001168	0	6	70				
FCN2	2220	broad.mit.edu	37	9	137772709	137772709	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr9:137772709C>A	ENST00000291744.6	+	1	52	c.42C>A	c.(40-42)acC>acA	p.T14T	FCN2_ENST00000350339.2_Silent_p.T14T	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	14					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)	p.T14T(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GCGCTGCCACCCTGCTGCTCT	0.617																																							uc004cfg.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(40-42)ACC>ACA		ficolin 2 isoform a precursor							42.0	48.0	46.0					9																	137772709		2203	4300	6503	SO:0001819	synonymous_variant	2220				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	g.chr9:137772709C>A	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.42C>A	9.37:g.137772709C>A						FCN2_uc004cfh.1_Silent_p.T14T	p.T14T	NM_004108	NP_004099	Q15485	FCN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)	1	52	+		Myeloproliferative disorder(178;0.0333)	14					A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Silent	SNP	ENST00000291744.6	37	c.42C>A	CCDS6983.1																																																																																				0.617	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	NM_004108		5	24	1	0	1.23904e-05	0.000602	1.48856e-05	5	24				
MXRA5	25878	broad.mit.edu	37	X	3235434	3235434	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:3235434G>T	ENST00000217939.6	-	6	6442	c.6288C>A	c.(6286-6288)caC>caA	p.H2096Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2096	Ig-like C2-type 5.					extracellular vesicular exosome (GO:0070062)		p.H2096Q(2)		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)				ACAAGTTCCCGTGGAGGAACT	0.642																																							uc004crg.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(6286-6288)CAC>CAA		adlican precursor							42.0	36.0	38.0					X																	3235434		2200	4297	6497	SO:0001583	missense	25878					extracellular region		g.chrX:3235434G>T	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.6288C>A	X.37:g.3235434G>T	ENSP00000217939:p.His2096Gln						p.H2096Q	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	6445	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2096			Ig-like C2-type 5.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6288C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	7.975	0.749862	0.15778	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64991	-0.13	3.63	2.46	0.29980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.592240	0.04900	U	0.451134	T	0.49609	0.1567	N	0.20986	0.625	0.18873	N	0.999984	P	0.46621	0.881	P	0.44647	0.456	T	0.44050	-0.9353	10	0.25751	T	0.34	.	4.7168	0.12899	0.4778:0.0:0.5222:0.0	.	2096	Q9NR99	MXRA5_HUMAN	Q	2096	ENSP00000217939:H2096Q	ENSP00000217939:H2096Q	H	-	3	2	MXRA5	3245434	0.998000	0.40836	0.083000	0.20561	0.622000	0.37654	0.822000	0.27352	1.440000	0.47531	0.597000	0.82753	CAC		0.642	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		9	4	1	0	1.58986e-06	0.008291	2.00704e-06	9	4				
ASB9	140462	broad.mit.edu	37	X	15266879	15266879	+	Silent	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:15266879G>A	ENST00000380488.4	-	6	1020	c.747C>T	c.(745-747)ttC>ttT	p.F249F	ASB9_ENST00000380483.3_Silent_p.F239F|ASB9_ENST00000546332.1_Silent_p.F249F|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380485.3_Silent_p.F249F	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	249	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)		p.F249F(2)		breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CTCTCTCCAAGAAGAGCTGGG	0.542																																							uc004cwl.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(745-747)TTC>TTT		ankyrin repeat and SOCS box-containing 9 isoform							72.0	70.0	71.0					X																	15266879		2203	4300	6503	SO:0001819	synonymous_variant	140462				intracellular signal transduction			g.chrX:15266879G>A	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.747C>T	X.37:g.15266879G>A						ASB9_uc004cwk.2_Silent_p.F249F|ASB9_uc004cwm.2_Silent_p.F239F|ASB9_uc010ner.2_Silent_p.F249F|ASB9_uc004cwn.2_Silent_p.F220F	p.F249F	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN			6	994	-	Hepatocellular(33;0.183)		249			SOCS box.		A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Silent	SNP	ENST00000380488.4	37	c.747C>T	CCDS35208.1																																																																																				0.542	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			10	41	0	0	0	0.008291	0	10	41				
PDHA1	5160	broad.mit.edu	37	X	19375768	19375768	+	Splice_Site	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:19375768A>T	ENST00000422285.2	+	9	936		c.e9-1		PDHA1_ENST00000379804.1_Splice_Site|PDHA1_ENST00000545074.1_Splice_Site|PDHA1_ENST00000478795.1_3'UTR|MAP3K15_ENST00000518578.1_5'Flank|PDHA1_ENST00000379806.5_Splice_Site|PDHA1_ENST00000540249.1_Splice_Site			P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1						acetyl-CoA biosynthetic process from pyruvate (GO:0006086)|cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|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)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pyruvate dehydrogenase complex (GO:0045254)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)|pyruvate dehydrogenase activity (GO:0004738)	p.?(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)					GTTCTGTTTTAGGGGCCCATC	0.537																																							uc004czg.3		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e9-2		pyruvate dehydrogenase E1 alpha 1 precursor	NADH(DB00157)						239.0	191.0	207.0					X																	19375768		2203	4300	6503	SO:0001630	splice_region_variant	5160				glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity	g.chrX:19375768A>T		CCDS14192.1, CCDS55380.1, CCDS55381.1, CCDS55382.1	Xp22.1	2008-02-05			ENSG00000131828	ENSG00000131828	1.2.4.1		8806	protein-coding gene	gene with protein product		300502		PDHA			Standard	NM_001173454		Approved		uc004czh.4	P08559	OTTHUMG00000021224	ENST00000422285.2:c.832-1A>T	X.37:g.19375768A>T						PDHA1_uc004czh.3_Splice_Site_p.G313_splice|PDHA1_uc011mjc.1_Splice_Site_p.G282_splice|PDHA1_uc011mjd.1_Splice_Site_p.G244_splice|PDHA1_uc010nfk.2_Intron|PDHA1_uc010nfl.2_Splice_Site_p.G69_splice	p.G278_splice	NM_000284	NP_000275	P08559	ODPA_HUMAN			9	977	+	Hepatocellular(33;0.183)							A5YVE9|B2R5P7|B7Z3T7|B7Z3X5|Q53H41|Q5JPT8|Q9NP12|Q9UBJ8|Q9UBU0|Q9UNG4|Q9UNG5	Splice_Site	SNP	ENST00000422285.2	37	c.832_splice	CCDS14192.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.311015	0.81358	.	.	ENSG00000131828	ENST00000379806;ENST00000545074;ENST00000540249;ENST00000422285	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8856	0.70567	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDHA1	19285689	1.000000	0.71417	0.994000	0.49952	0.960000	0.62799	8.939000	0.92951	1.965000	0.57142	0.486000	0.48141	.		0.537	PDHA1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055977.1		Intron	74	79	0	0	0	0.00361	0	74	79				
PHEX	5251	broad.mit.edu	37	X	22065243	22065243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:22065243G>A	ENST00000379374.4	+	3	828	c.263G>A	c.(262-264)tGg>tAg	p.W88*	PHEX_ENST00000535894.1_5'UTR|PHEX_ENST00000537599.1_Nonsense_Mutation_p.W88*	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	88					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.W88*(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TGTGATGGCTGGATAAGCAAT	0.398																																							uc004dah.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)	3						c.(262-264)TGG>TAG		phosphate-regulating neutral endopeptidase							191.0	161.0	171.0					X																	22065243		2203	4300	6503	SO:0001587	stop_gained	5251				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	g.chrX:22065243G>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.263G>A	X.37:g.22065243G>A	ENSP00000368682:p.Trp88*					PHEX_uc011mjr.1_Nonsense_Mutation_p.W88*|PHEX_uc011mjs.1_5'UTR	p.W88*	NM_000444	NP_000435	P78562	PHEX_HUMAN			3	466	+			88			Extracellular (Potential).		O00678|Q13646|Q2M325|Q93032|Q99827	Nonsense_Mutation	SNP	ENST00000379374.4	37	c.263G>A	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	43	10.378892	0.99394	.	.	ENSG00000102174	ENST00000379374;ENST00000537599	.	.	.	5.5	5.5	0.81552	.	0.054374	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4484	0.90695	0.0:0.0:1.0:0.0	.	.	.	.	X	88	.	ENSP00000368682:W88X	W	+	2	0	PHEX	21975164	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.771000	0.91751	2.298000	0.77334	0.594000	0.82650	TGG		0.398	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444		7	56	0	0	0	0.001984	0	7	56				
DCAF8L1	139425	broad.mit.edu	37	X	27997831	27997831	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:27997831C>A	ENST00000441525.1	-	1	1735	c.1621G>T	c.(1621-1623)Gac>Tac	p.D541Y		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	541								p.D541Y(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TCAAACGAGTCCGTATAGTTC	0.488																																							uc004dbx.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1621-1623)GAC>TAC		DDB1 and CUL4 associated factor 8-like 1							185.0	138.0	154.0					X																	27997831		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27997831C>A		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1621G>T	X.37:g.27997831C>A	ENSP00000405222:p.Asp541Tyr						p.D541Y	NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN			1	1736	-			541					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.1621G>T	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	9.476	1.096991	0.20552	.	.	ENSG00000226372	ENST00000441525	T	0.66638	-0.22	0.842	-1.56	0.08532	.	0.189367	0.43110	D	0.000613	T	0.65450	0.2692	L	0.49126	1.545	0.09310	N	1	P	0.45474	0.859	P	0.55161	0.77	T	0.60378	-0.7275	10	0.62326	D	0.03	-1.8889	5.4779	0.16706	0.0:0.5926:0.0:0.4074	.	541	A6NGE4	DC8L1_HUMAN	Y	541	ENSP00000405222:D541Y	ENSP00000405222:D541Y	D	-	1	0	DCAF8L1	27907752	0.361000	0.24972	0.000000	0.03702	0.001000	0.01503	0.603000	0.24149	-0.797000	0.04450	-0.739000	0.03532	GAC		0.488	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	XM_066690		45	45	1	0	6.57855e-14	0.009718	1.0359e-13	45	45				
CXorf21	80231	broad.mit.edu	37	X	30577698	30577698	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:30577698C>A	ENST00000378962.3	-	3	1097	c.775G>T	c.(775-777)Gag>Tag	p.E259*		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	259								p.E259*(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AGATTCTTCTCTCTAGACACT	0.423																																							uc004dcg.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(775-777)GAG>TAG		hypothetical protein LOC80231							87.0	79.0	82.0					X																	30577698		2202	4300	6502	SO:0001587	stop_gained	80231							g.chrX:30577698C>A	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.775G>T	X.37:g.30577698C>A	ENSP00000368245:p.Glu259*						p.E259*	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN			3	1051	-			259						Nonsense_Mutation	SNP	ENST00000378962.3	37	c.775G>T	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	C	37	6.528145	0.97637	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.11	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-15.0774	14.7774	0.69740	0.0:0.8598:0.1402:0.0	.	.	.	.	X	259	.	ENSP00000368245:E259X	E	-	1	0	CXorf21	30487619	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.459000	0.66685	2.351000	0.79841	0.513000	0.50165	GAG		0.423	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		27	26	1	0	2.79863e-10	0.004656	4.05239e-10	27	26				
FTHL17	53940	broad.mit.edu	37	X	31089806	31089806	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:31089806G>T	ENST00000359202.3	-	1	364	c.265C>A	c.(265-267)Cca>Aca	p.P89T		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	89	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)		ferric iron binding (GO:0008199)	p.P89T(2)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						TGGCACTCTGGCTTCCTGATA	0.607																																							uc004dcl.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(265-267)CCA>ACA		ferritin, heavy polypeptide-like 17							61.0	54.0	57.0					X																	31089806		2202	4300	6502	SO:0001583	missense	53940				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	g.chrX:31089806G>T	AF285592	CCDS14227.1	Xp21.2	2010-07-06			ENSG00000132446	ENSG00000132446			3987	protein-coding gene	gene with protein product	"""cancer/testis antigen 38"""	300308				11279525	Standard	NM_031894		Approved	CT38	uc004dcl.1	Q9BXU8	OTTHUMG00000021332	ENST00000359202.3:c.265C>A	X.37:g.31089806G>T	ENSP00000368207:p.Pro89Thr						p.P89T	NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN			1	368	-			89			Ferritin-like diiron.		Q6NT24|Q6NTE2	Missense_Mutation	SNP	ENST00000359202.3	37	c.265C>A	CCDS14227.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781333	0.49891	.	.	ENSG00000132446	ENST00000359202	T	0.72167	-0.63	3.46	2.6	0.31112	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.061993	0.64402	D	0.000003	T	0.81240	0.4781	M	0.83603	2.65	0.47123	D	0.999328	D	0.57899	0.981	D	0.62955	0.909	T	0.81951	-0.0698	10	0.72032	D	0.01	.	9.4911	0.38960	0.0:0.0:0.7873:0.2127	.	89	Q9BXU8	FHL17_HUMAN	T	89	ENSP00000368207:P89T	ENSP00000368207:P89T	P	-	1	0	FTHL17	30999727	1.000000	0.71417	0.002000	0.10522	0.002000	0.02628	3.850000	0.55918	0.846000	0.35142	-0.240000	0.12126	CCA		0.607	FTHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056178.1	NM_031894		4	52	1	0	0.00909568	0.009096	0.00961122	4	52				
FAM47C	442444	broad.mit.edu	37	X	37027667	37027667	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:37027667C>A	ENST00000358047.3	+	1	1236	c.1184C>A	c.(1183-1185)cCc>cAc	p.P395H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	395								p.P395H(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAGAGACCCCCAAGAATGGA	0.617																																							uc004ddl.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1183-1185)CCC>CAC		hypothetical protein LOC442444							54.0	56.0	56.0					X																	37027667		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027667C>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1184C>A	X.37:g.37027667C>A	ENSP00000367913:p.Pro395His						p.P395H	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	1198	+			395					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1184C>A	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	11.78	1.742179	0.30865	.	.	ENSG00000198173	ENST00000358047	T	0.23348	1.91	1.23	1.23	0.21249	.	.	.	.	.	T	0.29491	0.0735	M	0.78049	2.395	0.09310	N	1	B	0.27229	0.172	B	0.28849	0.095	T	0.24799	-1.0150	9	0.42905	T	0.14	.	8.2388	0.31645	0.0:1.0:0.0:0.0	.	395	Q5HY64	FA47C_HUMAN	H	395	ENSP00000367913:P395H	ENSP00000367913:P395H	P	+	2	0	FAM47C	36937588	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.424000	0.21330	0.487000	0.27698	0.183000	0.17082	CCC		0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		27	29	1	0	5.61819e-17	0.005443	9.31014e-17	27	29				
DUSP21	63904	broad.mit.edu	37	X	44703540	44703540	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:44703540C>A	ENST00000339042.4	+	1	292	c.162C>A	c.(160-162)gcC>gcA	p.A54A		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	54	Sufficient for mitochondrial localization. {ECO:0000250}.|Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|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)	p.A54A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						TTGTCAATGCCTCGGTGGAAG	0.507																																							uc004dgd.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|lung(1)	2						c.(160-162)GCC>GCA		dual specificity phosphatase 21							175.0	137.0	150.0					X																	44703540		2203	4300	6503	SO:0001819	synonymous_variant	63904					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:44703540C>A	AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.162C>A	X.37:g.44703540C>A							p.A54A	NM_022076	NP_071359	Q9H596	DUS21_HUMAN			1	292	+			54			Tyrosine-protein phosphatase.|Sufficient for mitochondrial localization (By similarity).		Q0VDA6|Q6IAJ6|Q6YDQ8	Silent	SNP	ENST00000339042.4	37	c.162C>A	CCDS14264.1																																																																																				0.507	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076		34	41	1	0	3.76114e-14	0.004289	5.95846e-14	34	41				
JADE3	9767	broad.mit.edu	37	X	46845161	46845161	+	Missense_Mutation	SNP	A	A	G	rs192950306		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:46845161A>G	ENST00000218343.4	+	3	392	c.94A>G	c.(94-96)Aaa>Gaa	p.K32E	PHF16_ENST00000397189.1_Missense_Mutation_p.K32E	NM_014735.3	NP_055550.1												p.K32E(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GATCAAGTCAAAAATTCCAAA	0.348													A|||	1	0.000264901	0.0	0.0014	3775	,	,		15109	0.0		0.0	False		,,,				2504	0.0						uc004dgx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(94-96)AAA>GAA		PHD finger protein 16							115.0	99.0	104.0					X																	46845161		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46845161A>G																												ENST00000218343.4:c.94A>G	X.37:g.46845161A>G	ENSP00000218343:p.Lys32Glu					PHF16_uc004dgy.2_Missense_Mutation_p.K32E	p.K32E	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN			3	145	+			32						Missense_Mutation	SNP	ENST00000218343.4	37	c.94A>G	CCDS14271.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	A	8.670	0.902714	0.17760	.	.	ENSG00000102221	ENST00000424392;ENST00000397189;ENST00000218343;ENST00000455411	T;T	0.50813	0.73;0.73	4.91	4.91	0.64330	.	0.208939	0.42821	D	0.000641	T	0.42765	0.1217	L	0.44542	1.39	0.42714	D	0.993654	B	0.19445	0.036	B	0.32928	0.155	T	0.32587	-0.9901	10	0.28530	T	0.3	.	11.246	0.48998	1.0:0.0:0.0:0.0	.	32	Q92613	JADE3_HUMAN	E	32	ENSP00000380373:K32E;ENSP00000218343:K32E	ENSP00000218343:K32E	K	+	1	0	PHF16	46730105	1.000000	0.71417	0.993000	0.49108	0.831000	0.47069	5.177000	0.65032	1.926000	0.55796	0.486000	0.48141	AAA		0.348	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			13	23	0	0	0	0.004007	0	13	23				
RBM10	8241	broad.mit.edu	37	X	47034444	47034444	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:47034444G>T	ENST00000377604.3	+	6	1271	c.529G>T	c.(529-531)Gag>Tag	p.E177*	RBM10_ENST00000329236.7_Nonsense_Mutation_p.E100*|RBM10_ENST00000345781.6_Nonsense_Mutation_p.E100*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	177	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)	p.E177*(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CGCCTTCGTCGAGTTTAGTCA	0.552																																					Melanoma(171;120 2705 19495 39241)	Melanoma(171;120 2705 19495 39241)	uc004dhf.2		NA																	2	Substitution - Nonsense(2)		upper_aerodigestive_tract(1)|lung(1)	ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5						c.(529-531)GAG>TAG		RNA binding motif protein 10 isoform 1							94.0	79.0	84.0					X																	47034444		2203	4300	6503	SO:0001587	stop_gained	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47034444G>T	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.529G>T	X.37:g.47034444G>T	ENSP00000366829:p.Glu177*					RBM10_uc004dhe.1_Intron|RBM10_uc004dhg.2_Nonsense_Mutation_p.E100*|RBM10_uc004dhh.2_Nonsense_Mutation_p.E177*|RBM10_uc010nhq.2_Nonsense_Mutation_p.E100*|RBM10_uc004dhi.2_Nonsense_Mutation_p.E242*	p.E177*	NM_005676	NP_005667	P98175	RBM10_HUMAN			6	908	+			177			RRM 1.		C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Nonsense_Mutation	SNP	ENST00000377604.3	37	c.529G>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	41	8.723241	0.98929	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	.	.	.	4.53	4.53	0.55603	.	0.128486	0.50627	D	0.000101	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.2552	14.1526	0.65395	0.0:0.0:1.0:0.0	.	.	.	.	X	177;100;100	.	ENSP00000328848:E100X	E	+	1	0	RBM10	46919388	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.465000	0.97660	2.002000	0.58637	0.525000	0.51046	GAG		0.552	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		21	21	1	0	5.26018e-13	0.012319	8.09974e-13	21	21				
RIBC1	158787	broad.mit.edu	37	X	53453249	53453249	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:53453249G>C	ENST00000375327.3	+	3	178	c.25G>C	c.(25-27)Gat>Cat	p.D9H	RIBC1_ENST00000414955.2_Missense_Mutation_p.D9H|RIBC1_ENST00000457095.1_Missense_Mutation_p.D9H	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	9								p.D9H(2)		lung(2)	2						ACAGTCAACAGATACCAAGGA	0.502																																							uc004dsk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(25-27)GAT>CAT		RIB43A domain with coiled-coils 1 isoform 1							85.0	61.0	69.0					X																	53453249		2203	4300	6503	SO:0001583	missense	158787							g.chrX:53453249G>C	AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.25G>C	X.37:g.53453249G>C	ENSP00000364476:p.Asp9His					RIBC1_uc004dsj.1_Missense_Mutation_p.D9H|RIBC1_uc011mog.1_Missense_Mutation_p.D9H	p.D9H	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN			3	178	+			9					B4E297|E9PDU2|Q5H931|Q96A80	Missense_Mutation	SNP	ENST00000375327.3	37	c.25G>C	CCDS35299.1	.	.	.	.	.	.	.	.	.	.	G	14.16	2.452409	0.43531	.	.	ENSG00000158423	ENST00000329209;ENST00000414955;ENST00000457095;ENST00000375327	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	4.88	4.01	0.46588	.	0.110417	0.64402	D	0.000014	T	0.61553	0.2356	M	0.85777	2.775	0.26886	N	0.967435	P;P;P	0.41546	0.655;0.655;0.754	B;B;B	0.43123	0.409;0.249;0.161	T	0.61695	-0.7010	10	0.87932	D	0	-9.2102	13.4442	0.61131	0.0:0.1545:0.8455:0.0	.	9;9;9	E9PDU2;Q8N443;Q8N443-2	.;RIBC1_HUMAN;.	H	9	ENSP00000332142:D9H;ENSP00000401463:D9H;ENSP00000402080:D9H;ENSP00000364476:D9H	ENSP00000332142:D9H	D	+	1	0	RIBC1	53469974	1.000000	0.71417	0.787000	0.31911	0.149000	0.21700	4.696000	0.61774	0.847000	0.35167	0.600000	0.82982	GAT		0.502	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056762.1	NM_144968		3	35	0	0	0	0.004672	0	3	35				
FAM120C	54954	broad.mit.edu	37	X	54159204	54159204	+	Silent	SNP	T	T	C	rs45611732	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:54159204T>C	ENST00000375180.2	-	9	2039	c.1983A>G	c.(1981-1983)gtA>gtG	p.V661V	FAM120C_ENST00000328235.4_Silent_p.V661V	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	661							poly(A) RNA binding (GO:0044822)	p.V661V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GAACTCCATATACATATTGAC	0.478													T|||	2	0.000529801	0.0	0.0	3775	,	,		13638	0.0		0.002	False		,,,				2504	0.0						uc004dsz.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1981-1983)GTA>GTG		hypothetical protein LOC54954		T		1,3834		0,1,0,1631,571	61.0	52.0	55.0		1983	-1.8	1.0	X	dbSNP_127	55	15,6713		0,9,6,2419,1866	no	coding-synonymous	FAM120C	NM_017848.4		0,10,6,4050,2437	CC,CT,C,TT,T		0.2229,0.0261,0.1515		661/1097	54159204	16,10547	2203	4300	6503	SO:0001819	synonymous_variant	54954							g.chrX:54159204T>C	AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.1983A>G	X.37:g.54159204T>C						FAM120C_uc011moh.1_Silent_p.V661V	p.V661V	NM_017848	NP_060318	Q9NX05	F120C_HUMAN			9	2066	-			661					B2RMT7	Silent	SNP	ENST00000375180.2	37	c.1983A>G	CCDS14356.1																																																																																				0.478	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		6	25	0	0	0	0.001984	0	6	25				
MTMR8	55613	broad.mit.edu	37	X	63557210	63557210	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:63557210G>C	ENST00000374852.3	-	9	1106	c.1039C>G	c.(1039-1041)Caa>Gaa	p.Q347E	MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Missense_Mutation_p.Q347E	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	347	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.Q347E(2)|p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GAGCAGACTTGTGCTGTGCGG	0.443																																							uc004dvs.2		NA																	3	Substitution - Missense(2)|Whole gene deletion(1)		lung(2)|ovary(1)	ovary(2)|breast(2)	4						c.(1039-1041)CAA>GAA		myotubularin related protein 8							108.0	79.0	89.0					X																	63557210		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63557210G>C	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1039C>G	X.37:g.63557210G>C	ENSP00000363985:p.Gln347Glu					MTMR8_uc011mou.1_Missense_Mutation_p.Q347E|MTMR8_uc004dvt.1_Missense_Mutation_p.Q347E	p.Q347E	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			9	1107	-			347			Myotubularin phosphatase.		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.1039C>G	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.06|19.06	3.754439|3.754439	0.69648|0.69648	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400|ENST00000442913	D;D|.	0.91521|.	-2.86;-2.86|.	2.86|2.86	2.86|2.86	0.33363|0.33363	Myotubularin phosphatase domain (1);|.	0.000000|.	0.48767|.	U|.	0.000177|.	D|D	0.88340|0.88340	0.6410|0.6410	H|H	0.99156|0.99156	4.45|4.45	0.58432|0.58432	D|D	0.999991|0.999991	D;D|.	0.89917|.	0.996;1.0|.	D;D|.	0.91635|.	0.986;0.999|.	D|D	0.91761|0.91761	0.5420|0.5420	10|5	0.87932|.	D|.	0|.	.|.	12.2043|12.2043	0.54342|0.54342	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	347;347|.	B4DQL0;Q96EF0|.	.;MTMR8_HUMAN|.	E|R	347;347;233|150	ENSP00000394003:Q347E;ENSP00000363985:Q347E|.	ENSP00000247400:Q233E|.	Q|T	-|-	1|2	0|0	MTMR8|MTMR8	63473935|63473935	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.989000|0.989000	0.77384|0.77384	8.080000|8.080000	0.89510|0.89510	1.458000|1.458000	0.47871|0.47871	0.600000|0.600000	0.82982|0.82982	CAA|ACA		0.443	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		5	12	0	0	0	0.001168	0	5	12				
BRWD3	254065	broad.mit.edu	37	X	79973080	79973080	+	Silent	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:79973080C>A	ENST00000373275.4	-	19	2439	c.2223G>T	c.(2221-2223)ggG>ggT	p.G741G	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	741					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.G741G(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACCTACTAACCCCATTATTTA	0.378																																							uc004edt.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(2221-2223)GGG>GGT		bromodomain and WD repeat domain containing 3							169.0	149.0	156.0					X																	79973080		2203	4300	6503	SO:0001819	synonymous_variant	254065							g.chrX:79973080C>A		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2223G>T	X.37:g.79973080C>A						BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Silent_p.G337G|BRWD3_uc004edp.2_Silent_p.G570G|BRWD3_uc004edq.2_Silent_p.G337G|BRWD3_uc010nmj.1_Silent_p.G337G|BRWD3_uc004edr.2_Silent_p.G411G|BRWD3_uc004eds.2_Silent_p.G337G|BRWD3_uc004edu.2_Silent_p.G411G|BRWD3_uc004edv.2_Silent_p.G337G|BRWD3_uc004edw.2_Silent_p.G337G|BRWD3_uc004edx.2_Silent_p.G337G|BRWD3_uc004edy.2_Silent_p.G337G|BRWD3_uc004edz.2_Silent_p.G411G|BRWD3_uc004eea.2_Silent_p.G411G|BRWD3_uc004eeb.2_Silent_p.G337G	p.G741G	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			19	2486	-			741					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	ENST00000373275.4	37	c.2223G>T	CCDS14447.1																																																																																				0.378	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		8	115	1	0	0.00448238	0.004482	0.00478487	8	115				
POU3F4	5456	broad.mit.edu	37	X	82764135	82764135	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:82764135G>C	ENST00000373200.2	+	1	867	c.803G>C	c.(802-804)aGc>aCc	p.S268T	RP3-326L13.3_ENST00000607789.1_lincRNA|RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	268					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S268T(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGCCCGACCAGCATTGACAAG	0.572																																							uc004eeg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(802-804)AGC>ACC		POU domain, class 3, transcription factor 4							46.0	40.0	42.0					X																	82764135		2203	4300	6503	SO:0001583	missense	5456				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity	g.chrX:82764135G>C	X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.803G>C	X.37:g.82764135G>C	ENSP00000362296:p.Ser268Thr						p.S268T	NM_000307	NP_000298	P49335	PO3F4_HUMAN			1	867	+			268					B2RC71|Q5H9G9|Q99410	Missense_Mutation	SNP	ENST00000373200.2	37	c.803G>C	CCDS14450.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211502	0.58343	.	.	ENSG00000196767	ENST00000373200	D	0.95756	-3.8	5.07	5.07	0.68467	Homeodomain-related (1);	0.000000	0.85682	D	0.000000	D	0.94169	0.8129	L	0.47016	1.485	0.58432	D	0.999999	B	0.20459	0.045	B	0.34346	0.18	D	0.91536	0.5246	10	0.29301	T	0.29	.	17.4614	0.87620	0.0:0.0:1.0:0.0	.	268	P49335	PO3F4_HUMAN	T	268	ENSP00000362296:S268T	ENSP00000362296:S268T	S	+	2	0	POU3F4	82650791	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.491000	0.73649	2.244000	0.73946	0.525000	0.51046	AGC		0.572	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307		7	22	0	0	0	0.001984	0	7	22				
SATL1	340562	broad.mit.edu	37	X	84362524	84362524	+	Missense_Mutation	SNP	G	G	T	rs146269642		TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:84362524G>T	ENST00000395409.3	-	1	1450	c.890C>A	c.(889-891)cCg>cAg	p.P297Q	SATL1_ENST00000332921.5_Missense_Mutation_p.P297Q|SATL1_ENST00000509231.1_Missense_Mutation_p.P484Q			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	297	Gln-rich.						N-acetyltransferase activity (GO:0008080)	p.P484Q(1)		NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						ACTCGGCCCCGGTTCCCATAT	0.577																																							uc011mqx.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1450-1452)CCG>CAG		spermidine/spermine N1-acetyl transferase-like 1							114.0	93.0	100.0					X																	84362524		2203	4300	6503	SO:0001583	missense	340562						N-acetyltransferase activity	g.chrX:84362524G>T	BC043215	CCDS35343.1, CCDS35343.2	Xq21	2008-02-05			ENSG00000184788	ENSG00000184788			27992	protein-coding gene	gene with protein product						12477932	Standard	NM_001012980		Approved		uc004een.3	Q86VE3	OTTHUMG00000021931	ENST00000395409.3:c.890C>A	X.37:g.84362524G>T	ENSP00000378804:p.Pro297Gln					SATL1_uc004een.2_Missense_Mutation_p.P484Q	p.P484Q	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN			1	1451	-			297			Gln-rich.		A0AVK7|E9PB72|Q5H8V9	Missense_Mutation	SNP	ENST00000395409.3	37	c.1451C>A		.	.	.	.	.	.	.	.	.	.	G	11.61	1.688682	0.29962	.	.	ENSG00000184788	ENST00000395409;ENST00000332921;ENST00000509231	T;T;T	0.40476	1.03;1.03;1.03	3.48	0.575	0.17374	.	.	.	.	.	T	0.47581	0.1453	L	0.40543	1.245	0.09310	N	1	B;D	0.76494	0.357;0.999	B;D	0.67900	0.076;0.954	T	0.31724	-0.9933	9	0.72032	D	0.01	0.0697	5.1067	0.14787	0.2239:0.169:0.6071:0.0	.	297;484	Q86VE3;E9PB72	SATL1_HUMAN;.	Q	297;297;484	ENSP00000378804:P297Q;ENSP00000329115:P297Q;ENSP00000425421:P484Q	ENSP00000329115:P297Q	P	-	2	0	SATL1	84249180	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-0.787000	0.04618	-0.129000	0.11620	-0.920000	0.02741	CCG		0.577	SATL1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_291339		11	60	1	0	0.000673444	0.008291	0.000734666	11	60				
PCDH11X	27328	broad.mit.edu	37	X	91090850	91090850	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:91090850C>A	ENST00000373094.1	+	1	1192	c.347C>A	c.(346-348)cCg>cAg	p.P116Q	PCDH11X_ENST00000361655.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P116Q|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000504220.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P116Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	116	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P116Q(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCATTTTGCCGGATGAAATA	0.393																																					NSCLC(38;925 1092 2571 38200 45895)	NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(346-348)CCG>CAG		protocadherin 11 X-linked isoform c							78.0	72.0	74.0					X																	91090850		2202	4281	6483	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090850C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.347C>A	X.37:g.91090850C>A	ENSP00000362186:p.Pro116Gln					PCDH11X_uc004efl.1_Missense_Mutation_p.P116Q|PCDH11X_uc004efo.1_Missense_Mutation_p.P116Q|PCDH11X_uc010nmv.1_Missense_Mutation_p.P116Q|PCDH11X_uc004efm.1_Missense_Mutation_p.P116Q|PCDH11X_uc004efn.1_Missense_Mutation_p.P116Q|PCDH11X_uc004efh.1_Missense_Mutation_p.P116Q|PCDH11X_uc004efj.1_Missense_Mutation_p.P116Q	p.P116Q	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	1192	+			116			Extracellular (Potential).|Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.347C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244372	0.59103	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.54866	0.56;0.62;0.63;0.55;0.64;0.6;0.61;0.63;0.64	4.44	4.44	0.53790	Cadherin (2);	0.000000	0.85682	D	0.000000	T	0.67420	0.2891	L	0.59912	1.85	0.54753	D	0.999989	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	T	0.65319	-0.6197	10	0.31617	T	0.26	.	15.4133	0.74943	0.0:1.0:0.0:0.0	.	116;116;116;116;116;116;116;116	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	Q	116	ENSP00000378746:P116Q;ENSP00000362186:P116Q;ENSP00000362189:P116Q;ENSP00000355040:P116Q;ENSP00000362180:P116Q;ENSP00000423762:P116Q;ENSP00000355105:P116Q;ENSP00000384758:P116Q;ENSP00000298274:P116Q	ENSP00000298274:P116Q	P	+	2	0	PCDH11X	90977506	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	6.983000	0.76180	2.173000	0.68751	0.506000	0.49869	CCG		0.393	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		29	65	1	0	5.84002e-05	0.012213	6.80467e-05	29	65				
PIH1D3	139212	broad.mit.edu	37	X	106459949	106459949	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:106459949C>A	ENST00000372453.3	+	3	264	c.202C>A	c.(202-204)Cca>Aca	p.P68T	PIH1D3_ENST00000535523.1_Missense_Mutation_p.P68T|PIH1D3_ENST00000336387.4_Missense_Mutation_p.P68T	NM_173494.1	NP_775765.1	Q9NQM4	PIHD3_HUMAN	PIH1 domain containing 3	68								p.P68T(1)									GAATATTGGACCACCCCAAAT	0.338																																							uc004enc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(202-204)CCA>ACA		hypothetical protein LOC139212							63.0	57.0	59.0					X																	106459949		2203	4299	6502	SO:0001583	missense	139212							g.chrX:106459949C>A	AL136112	CCDS14528.1	Xq22.3	2014-05-20	2012-07-18	2012-07-18	ENSG00000080572	ENSG00000080572			28570	protein-coding gene	gene with protein product	"""sarcoma antigen NY-SAR-97"""		"""chromosome X open reading frame 41"""	CXorf41		12601173, 24421334	Standard	NM_001169154		Approved	MGC35261, NYSAR97	uc004enc.3	Q9NQM4	OTTHUMG00000022160	ENST00000372453.3:c.202C>A	X.37:g.106459949C>A	ENSP00000361531:p.Pro68Thr					CXorf41_uc004end.2_Missense_Mutation_p.P68T	p.P68T	NM_173494	NP_775765	Q9NQM4	CX041_HUMAN			3	264	+			68					D3DUX5|Q86WE1	Missense_Mutation	SNP	ENST00000372453.3	37	c.202C>A	CCDS14528.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808861	0.50421	.	.	ENSG00000080572	ENST00000372453;ENST00000535523;ENST00000336387	.	.	.	5.78	3.97	0.46021	.	0.168717	0.53938	D	0.000055	T	0.76962	0.4061	M	0.84326	2.69	0.46028	D	0.998822	D	0.89917	1.0	D	0.97110	1.0	T	0.75822	-0.3182	9	0.72032	D	0.01	1.0172	6.7821	0.23652	0.0:0.7287:0.1746:0.0968	.	68	Q9NQM4	CX041_HUMAN	T	68	.	ENSP00000337757:P68T	P	+	1	0	CXorf41	106346605	1.000000	0.71417	0.700000	0.30305	0.742000	0.42306	1.801000	0.38843	0.558000	0.29135	0.600000	0.82982	CCA		0.338	PIH1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057832.1	NM_173494		5	30	1	0	4.096e-09	0.001168	5.76311e-09	5	30				
RGAG1	57529	broad.mit.edu	37	X	109694214	109694214	+	Silent	SNP	T	T	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:109694214T>A	ENST00000465301.2	+	3	615	c.369T>A	c.(367-369)tcT>tcA	p.S123S	RGAG1_ENST00000540313.1_Silent_p.S123S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	123								p.S123S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCTTAGATTCTGGAACATTGT	0.522																																							uc004eor.1		NA																	1	Substitution - coding silent(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(367-369)TCT>TCA		retrotransposon gag domain containing 1							129.0	111.0	117.0					X																	109694214		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109694214T>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.369T>A	X.37:g.109694214T>A						RGAG1_uc011msr.1_Silent_p.S123S	p.S123S	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	615	+			123					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.369T>A	CCDS14552.1																																																																																				0.522	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		43	59	0	0	0	0.011902	0	43	59				
ZCCHC16	340595	broad.mit.edu	37	X	111698882	111698882	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:111698882A>C	ENST00000340433.2	+	1	1156	c.926A>C	c.(925-927)cAc>cCc	p.H309P		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	309							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.H309P(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						AACACAGCTCACCAGTAAGAG	0.438																																							uc004epo.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(925-927)CAC>CCC		zinc finger, CCHC domain containing 16							28.0	27.0	27.0					X																	111698882		2202	4297	6499	SO:0001583	missense	340595						nucleic acid binding|zinc ion binding	g.chrX:111698882A>C	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.926A>C	X.37:g.111698882A>C	ENSP00000340590:p.His309Pro						p.H309P	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN			3	1367	+			309					B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	c.926A>C	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	A	3.450	-0.112208	0.06881	.	.	ENSG00000187823	ENST00000340433	T	0.36340	1.26	3.8	1.39	0.22231	.	0.467739	0.15965	N	0.236041	T	0.26738	0.0654	L	0.44542	1.39	0.09310	N	1	P	0.39624	0.681	B	0.38755	0.281	T	0.11542	-1.0583	10	0.51188	T	0.08	0.1418	4.8962	0.13751	0.7374:0.0:0.2626:0.0	.	309	Q6ZR62	ZCH16_HUMAN	P	309	ENSP00000340590:H309P	ENSP00000340590:H309P	H	+	2	0	ZCCHC16	111585538	0.018000	0.18449	0.009000	0.14445	0.055000	0.15305	1.270000	0.33086	0.182000	0.20032	0.430000	0.28490	CAC		0.438	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		6	28	0	0	0	0.001984	0	6	28				
ZCCHC16	340595	broad.mit.edu	37	X	111698884	111698884	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:111698884C>T	ENST00000340433.2	+	1	1158	c.928C>T	c.(928-930)Cag>Tag	p.Q310*		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	310							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Q310*(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CACAGCTCACCAGTAAGAGGA	0.438																																							uc004epo.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(928-930)CAG>TAG		zinc finger, CCHC domain containing 16							27.0	26.0	26.0					X																	111698884		2202	4297	6499	SO:0001587	stop_gained	340595						nucleic acid binding|zinc ion binding	g.chrX:111698884C>T	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.928C>T	X.37:g.111698884C>T	ENSP00000340590:p.Gln310*						p.Q310*	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN			3	1369	+			310					B2RPG1	Nonsense_Mutation	SNP	ENST00000340433.2	37	c.928C>T	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925212	0.52759	.	.	ENSG00000187823	ENST00000340433	.	.	.	3.8	0.942	0.19525	.	0.262063	0.20267	N	0.095760	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-0.239	3.7617	0.08606	0.4293:0.444:0.0:0.1267	.	.	.	.	X	310	.	ENSP00000340590:Q310X	Q	+	1	0	ZCCHC16	111585540	0.071000	0.21146	0.039000	0.18376	0.069000	0.16628	-0.064000	0.11636	0.067000	0.16545	0.529000	0.55759	CAG		0.438	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		5	29	0	0	0	0.001168	0	5	29				
LONRF3	79836	broad.mit.edu	37	X	118145781	118145781	+	Silent	SNP	T	T	C			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:118145781T>C	ENST00000371628.3	+	8	1687	c.1656T>C	c.(1654-1656)ctT>ctC	p.L552L	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Silent_p.L296L|LONRF3_ENST00000304778.7_Silent_p.L511L	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	552	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.L511L(1)|p.L552L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTGACAGCCTTAATAAGAATG	0.448																																							uc004eqw.2		NA																	2	Substitution - coding silent(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(1654-1656)CTT>CTC		LON peptidase N-terminal domain and ring finger							298.0	229.0	253.0					X																	118145781		2203	4300	6503	SO:0001819	synonymous_variant	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118145781T>C	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1656T>C	X.37:g.118145781T>C						LONRF3_uc004eqx.2_Silent_p.L511L|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Silent_p.L296L	p.L552L	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN			8	1687	+			552			Lon.		Q5JPN6|Q8NB00|Q9H647	Silent	SNP	ENST00000371628.3	37	c.1656T>C	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	T	7.976	0.750145	0.15778	.	.	ENSG00000175556	ENST00000439603	.	.	.	6.07	-2.53	0.06326	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-37.1012	7.6979	0.28606	0.4392:0.0:0.4429:0.1178	.	.	.	.	Q	318	.	.	X	+	1	0	LONRF3	118029809	0.162000	0.22906	0.985000	0.45067	0.799000	0.45148	-0.354000	0.07681	-0.466000	0.06943	-0.410000	0.06199	TAA		0.448	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2	NM_024778		14	96	0	0	0	0.003163	0	14	96				
CT45A5	441521	broad.mit.edu	37	X	134947984	134947984	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:134947984G>T	ENST00000463085.2	-	3	430	c.341C>A	c.(340-342)tCc>tAc	p.S114Y	CT45A5_ENST00000370724.3_Missense_Mutation_p.S114Y|CT45A5_ENST00000491480.1_Missense_Mutation_p.S114Y|CT45A4_ENST00000420087.2_Intron			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	114								p.S114Y(1)		endometrium(1)|large_intestine(2)|lung(6)	9						TTTGGGAGAGGAGGCTATTCC	0.428																																							uc004eze.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(340-342)TCC>TAC		cancer/testis antigen family 45, member A5							231.0	199.0	210.0					X																	134947984		2189	4274	6463	SO:0001583	missense	441521							g.chrX:134947984G>T	AY743713	CCDS35406.1	Xq26.3	2009-03-12				ENSG00000269586			33270	protein-coding gene	gene with protein product	"""cancer/testis antigen CT45-5"""	300796				15905330	Standard	XM_006724759		Approved	CT45-5, CT45.5	uc022ces.1	Q6NSH3		ENST00000463085.2:c.341C>A	X.37:g.134947984G>T	ENSP00000424778:p.Ser114Tyr					CT45A5_uc011mvu.1_Missense_Mutation_p.S114Y	p.S114Y	NM_001007551	NP_001007552	Q6NSH3	CT455_HUMAN			3	586	-			114					A8K842|B7ZMC5	Missense_Mutation	SNP	ENST00000463085.2	37	c.341C>A	CCDS35406.1	.	.	.	.	.	.	.	.	.	.	G	2.085	-0.409673	0.04799	.	.	ENSG00000242284	ENST00000370724;ENST00000491480	T;T	0.48201	0.82;0.82	2.4	0.485	0.16830	.	0.519175	0.16586	U	0.207999	T	0.23806	0.0576	N	0.14661	0.345	0.09310	N	1	B	0.24963	0.115	B	0.34138	0.176	T	0.33137	-0.9880	10	0.02654	T	1	4.4612	4.4745	0.11729	0.378:0.0:0.622:0.0	.	114	Q6NSH3	CT455_HUMAN	Y	114	ENSP00000359759:S114Y;ENSP00000425997:S114Y	ENSP00000359759:S114Y	S	-	2	0	CT45A5	134775650	0.009000	0.17119	0.001000	0.08648	0.009000	0.06853	1.071000	0.30666	-0.119000	0.11830	0.365000	0.22127	TCC		0.428	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472589.1	NM_001007551		10	153	1	0	3.07112e-06	0.010729	3.81242e-06	10	153				
BRS3	680	broad.mit.edu	37	X	135572294	135572294	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:135572294A>G	ENST00000370648.3	+	2	665	c.437A>G	c.(436-438)tAc>tGc	p.Y146C	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	146					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)	p.Y146C(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GTTTCTAGATACAAGGCAGTT	0.443																																							uc004ezv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(436-438)TAC>TGC		bombesin-like receptor 3							79.0	74.0	76.0					X																	135572294		2203	4300	6503	SO:0001583	missense	680				adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity	g.chrX:135572294A>G		CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.437A>G	X.37:g.135572294A>G	ENSP00000359682:p.Tyr146Cys						p.Y146C	NM_001727	NP_001718	P32247	BRS3_HUMAN			2	586	+	Acute lymphoblastic leukemia(192;0.000127)		146			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000370648.3	37	c.437A>G	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.706323	0.68615	.	.	ENSG00000102239	ENST00000370648	D	0.88277	-2.36	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	D	0.95114	0.8417	M	0.90145	3.09	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.95485	0.8564	10	0.52906	T	0.07	-10.26	13.9986	0.64419	1.0:0.0:0.0:0.0	.	146	P32247	BRS3_HUMAN	C	146	ENSP00000359682:Y146C	ENSP00000359682:Y146C	Y	+	2	0	BRS3	135399960	1.000000	0.71417	0.999000	0.59377	0.830000	0.47004	8.962000	0.93254	1.750000	0.51863	0.481000	0.45027	TAC		0.443	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1	NM_001727		14	34	0	0	0	0.003163	0	14	34				
GPR101	83550	broad.mit.edu	37	X	136113649	136113649	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:136113649A>T	ENST00000298110.1	-	1	184	c.185T>A	c.(184-186)cTg>cAg	p.L62Q		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.L62Q(1)		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)					CACCTGCAGCAGCTGCGGCTT	0.607																																							uc011mwh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(184-186)CTG>CAG		G protein-coupled receptor 101							60.0	59.0	59.0					X																	136113649		2203	4297	6500	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136113649A>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.185T>A	X.37:g.136113649A>T	ENSP00000298110:p.Leu62Gln						p.L62Q	NM_054021	NP_473362	Q96P66	GP101_HUMAN			1	185	-	Acute lymphoblastic leukemia(192;0.000127)		62			Cytoplasmic (Potential).		Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.185T>A	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.512260	0.64522	.	.	ENSG00000165370	ENST00000298110	T	0.32272	1.46	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.61874	0.2382	M	0.91038	3.17	0.45791	D	0.99867	D	0.89917	1.0	D	0.97110	1.0	T	0.70174	-0.4944	9	0.87932	D	0	-6.2083	11.4246	0.50003	1.0:0.0:0.0:0.0	.	62	Q96P66	GP101_HUMAN	Q	62	ENSP00000298110:L62Q	ENSP00000298110:L62Q	L	-	2	0	GPR101	135941315	1.000000	0.71417	0.995000	0.50966	0.709000	0.40893	6.543000	0.73874	1.595000	0.50050	0.441000	0.28932	CTG		0.607	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			12	25	0	0	0	0.004007	0	12	25				
CXorf66	347487	broad.mit.edu	37	X	139038425	139038425	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:139038425G>A	ENST00000370540.1	-	3	739	c.716C>T	c.(715-717)cCt>cTt	p.P239L		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	239						integral component of membrane (GO:0016021)		p.P239L(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						ATGTTTGGGAGGCTTAGCCAA	0.433																																							uc004fbb.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(715-717)CCT>CTT		hypothetical protein LOC347487 precursor							164.0	154.0	157.0					X																	139038425		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139038425G>A		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.716C>T	X.37:g.139038425G>A	ENSP00000359571:p.Pro239Leu						p.P239L	NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN			3	738	-			239			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000370540.1	37	c.716C>T	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496868	0.26861	.	.	ENSG00000203933	ENST00000370540	T	0.51071	0.72	4.2	1.33	0.21861	.	1.581070	0.04029	N	0.301085	T	0.41558	0.1164	N	0.24115	0.695	0.09310	N	1	P	0.46512	0.879	P	0.47744	0.556	T	0.29181	-1.0020	9	.	.	.	3.3493	6.6031	0.22710	0.0:0.3956:0.4203:0.1841	.	239	Q5JRM2	CX066_HUMAN	L	239	ENSP00000359571:P239L	.	P	-	2	0	CXorf66	138866091	0.002000	0.14202	0.000000	0.03702	0.014000	0.08584	0.268000	0.18571	0.136000	0.18733	0.583000	0.79449	CCT		0.433	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		12	110	0	0	0	0.001368	0	12	110				
GABRA3	2556	broad.mit.edu	37	X	151336822	151336822	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:151336822T>G	ENST00000370314.4	-	10	1595	c.1357A>C	c.(1357-1359)Agc>Cgc	p.S453R	GABRA3_ENST00000535043.1_Missense_Mutation_p.S453R|RP11-329E24.6_ENST00000453915.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	453					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S453R(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TCAACCTTGCTGACACTGTTG	0.512																																					NSCLC(142;2578 2613 10251 16743)	NSCLC(142;2578 2613 10251 16743)	uc010ntk.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1357-1359)AGC>CGC		gamma-aminobutyric acid A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						267.0	208.0	228.0					X																	151336822		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151336822T>G		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1357A>C	X.37:g.151336822T>G	ENSP00000359337:p.Ser453Arg						p.S453R	NM_000808	NP_000799	P34903	GBRA3_HUMAN			10	1597	-	Acute lymphoblastic leukemia(192;6.56e-05)		453			Cytoplasmic (Probable).		Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.1357A>C	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095555	0.76870	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.86366	-2.11;-2.11;-2.11	4.48	4.48	0.54585	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.88775	0.6528	L	0.33093	0.98	0.58432	D	0.999991	D	0.67145	0.996	D	0.77557	0.99	D	0.89206	0.3561	10	0.66056	D	0.02	.	11.0236	0.47732	0.0:0.0:0.0:1.0	.	453	P34903	GBRA3_HUMAN	R	453	ENSP00000359337:S453R;ENSP00000359334:S453R;ENSP00000443527:S453R	ENSP00000359334:S453R	S	-	1	0	GABRA3	151087478	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.942000	0.87708	1.568000	0.49683	0.438000	0.28831	AGC		0.512	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808		11	76	0	0	0	0.008291	0	11	76				
MAGEA3	4102	broad.mit.edu	37	X	151935332	151935332	+	Missense_Mutation	SNP	C	C	T	rs35983118	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chrX:151935332C>T	ENST00000393902.3	-	3	1402	c.835G>A	c.(835-837)Gtt>Att	p.V279I	MAGEA3_ENST00000370278.3_Missense_Mutation_p.V279I			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	279	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.V279I(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGTTTCAACGAGGGCCCTT	0.532													N|||	2	0.000529801	0.0008	0.0	3775	,	,		15152	0.001		0.0	False		,,,				2504	0.0						uc004fgp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(835-837)GTT>ATT		melanoma antigen family A, 3		C	ILE/VAL	0,3834		0,0,0,1632,570	156.0	149.0	151.0		835	-2.8	0.0	X	dbSNP_126	151	4,6720		0,2,2,2426,1866	no	missense	MAGEA3	NM_005362.3	29	0,2,2,4058,2436	TT,TC,T,CC,C		0.0595,0.0,0.0379	benign	279/315	151935332	4,10554	2202	4296	6498	SO:0001583	missense	4102							g.chrX:151935332C>T		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.835G>A	X.37:g.151935332C>T	ENSP00000377480:p.Val279Ile						p.V279I	NM_005362	NP_005353	P43357	MAGA3_HUMAN			3	1044	-	Acute lymphoblastic leukemia(192;6.56e-05)		279			MAGE.		Q6FHI6	Missense_Mutation	SNP	ENST00000393902.3	37	c.835G>A	CCDS14715.1	7	0.004219409282700422	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	5	0.006596306068601583	c	1.175	-0.639862	0.03557	0.0	5.95E-4	ENSG00000221867	ENST00000370278;ENST00000393902	T;T	0.05447	3.44;3.44	1.42	-2.84	0.05751	.	1.198190	0.05748	N	0.602669	T	0.02193	0.0068	N	0.11560	0.145	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.40194	-0.9576	10	0.54805	T	0.06	.	1.0527	0.01583	0.1761:0.415:0.1755:0.2334	rs35983118	279	P43357	MAGA3_HUMAN	I	279	ENSP00000359301:V279I;ENSP00000377480:V279I	ENSP00000359301:V279I	V	-	1	0	MAGEA3	151685988	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-2.348000	0.01094	-3.104000	0.00243	-2.195000	0.00310	GTT		0.532	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		9	137	0	0	0	0.004482	0	9	137				
FLG	2312	broad.mit.edu	37	1	152280610	152280611	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:152280610_152280611insA	ENST00000368799.1	-	3	6786_6787	c.6751_6752insT	c.(6751-6753)ggafs	p.G2251fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2251	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)			TTCTGAGTGTCCCTCACTGTCA	0.589									Ichthyosis																														uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6751-6753)GGAfs		filaggrin																																				SO:0001589	frameshift_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.chr1:152280610_152280611insA	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.6751_6752insT	1.37:g.152280610_152280611insA	ENSP00000357789:p.Gly2251fs						p.G2251fs	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6787_6788	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2251			Ser-rich.|Filaggrin 13.		Q01720|Q5T583|Q9UC71	Frame_Shift_Ins	INS	ENST00000368799.1	37	c.6751_6752insT	CCDS30860.1																																																																																				0.589	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		47	435	NA	NA	NA	NA	NA	47	435	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158618322	158618322	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr1:158618322delC	ENST00000368147.4	-	26	3871	c.3691delG	c.(3691-3693)gacfs	p.D1231fs		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1231					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTACGAGGTCCCTTTCAAAG	0.502																																							uc001fst.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(3691-3693)GACfs		spectrin, alpha, erythrocytic 1							114.0	115.0	115.0					1																	158618322		1933	4128	6061	SO:0001589	frameshift_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158618322delC	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.3691delG	1.37:g.158618322delC	ENSP00000357129:p.Asp1231fs						p.D1231fs	NM_003126	NP_003117	P02549	SPTA1_HUMAN			26	3890	-	all_hematologic(112;0.0378)		1231			Spectrin 12.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Frame_Shift_Del	DEL	ENST00000368147.4	37	c.3691delG	CCDS41423.1																																																																																				0.502	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		39	105	NA	NA	NA	NA	NA	39	105	---	---	---	---
PRMT8	56341	broad.mit.edu	37	12	3701483	3701483	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:3701483delG	ENST00000382622.3	+	9	1456	c.1066delG	c.(1066-1068)gggfs	p.G356fs	PRMT8_ENST00000452611.2_Frame_Shift_Del_p.G347fs|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	356	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GGAAATCTACGGGACCATATC	0.557																																							uc001qmf.2		NA																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1066-1068)GGGfs		HMT1 hnRNP methyltransferase-like 4							101.0	102.0	101.0					12																	3701483		2203	4300	6503	SO:0001589	frameshift_variant	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3701483delG	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1066delG	12.37:g.3701483delG	ENSP00000372067:p.Gly356fs					PRMT8_uc009zed.2_Frame_Shift_Del_p.G347fs|PRMT8_uc001qmg.2_Frame_Shift_Del_p.G170fs|PRMT8_uc001qmh.2_RNA	p.G356fs	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		9	1433	+			356					B2RDP0|Q8TBJ8	Frame_Shift_Del	DEL	ENST00000382622.3	37	c.1066delG	CCDS8521.2																																																																																				0.557	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		47	97	NA	NA	NA	NA	NA	47	97	---	---	---	---
AKAP3	10566	broad.mit.edu	37	12	4737560	4737560	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:4737560delT	ENST00000545990.2	-	5	1032	c.508delA	c.(508-510)agcfs	p.S170fs	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Frame_Shift_Del_p.S170fs	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	170					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TTACTGAGGCTTTTGGTGGGT	0.498																																							uc001qnb.3		NA																	0				skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(508-510)AGCfs		A-kinase anchor protein 3							179.0	170.0	173.0					12																	4737560		2203	4300	6503	SO:0001589	frameshift_variant	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4737560delT	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.508delA	12.37:g.4737560delT	ENSP00000440994:p.Ser170fs						p.S170fs	NM_006422	NP_006413	O75969	AKAP3_HUMAN			4	737	-			170					O75945|Q86X01|Q9UM61	Frame_Shift_Del	DEL	ENST00000545990.2	37	c.508delA	CCDS8531.1																																																																																				0.498	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		68	198	NA	NA	NA	NA	NA	68	198	---	---	---	---
GPR133	283383	broad.mit.edu	37	12	131466440	131466448	+	In_Frame_Del	DEL	TCTTTTTTC	TCTTTTTTC	-	rs74744169|rs148928637	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	TCTTTTTTC	TCTTTTTTC	-	-	TCTTTTTTC	TCTTTTTTC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr12:131466440_131466448delTCTTTTTTC	ENST00000261654.5	+	5	881_889	c.322_330delTCTTTTTTC	c.(322-330)tcttttttcdel	p.SFF108del	GPR133_ENST00000535015.1_In_Frame_Del_p.SFF140del	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	108					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGTCACGTTTTCTTTTTTCTGGAAGACAC	0.474																																							uc001uit.3		NA																	0				pancreas(5)|ovary(3)|skin(2)	10						c.(322-330)TCTTTTTTCdel		G protein-coupled receptor 133 precursor																																				SO:0001651	inframe_deletion	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131466440_131466448delTCTTTTTTC	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.322_330delTCTTTTTTC	12.37:g.131466440_131466448delTCTTTTTTC	ENSP00000261654:p.Ser108_Phe110del					GPR133_uc010tbm.1_In_Frame_Del_p.SFF140del	p.SFF108del	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	5	881_889	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		108_110			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	In_Frame_Del	DEL	ENST00000261654.5	37	c.322_330delTCTTTTTTC	CCDS9272.1																																																																																				0.474	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		51	113	NA	NA	NA	NA	NA	51	113	---	---	---	---
MIA2	117153	broad.mit.edu	37	14	39716921	39716921	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr14:39716921delT	ENST00000280082.3	+	4	1342	c.1143delT	c.(1141-1143)ggtfs	p.G381fs	RP11-407N17.3_ENST00000553728.1_Frame_Shift_Del_p.G381fs|MIA2_ENST00000556784.1_Frame_Shift_Del_p.G380fs	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	381					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TTGATTTTGGTTTTGCTATAC	0.358																																							uc001wux.2		NA																	0				ovary(1)|breast(1)	2						c.(1141-1143)GGTfs		melanoma inhibitory activity 2							69.0	66.0	67.0					14																	39716921		2203	4300	6503	SO:0001589	frameshift_variant	117153					extracellular region		g.chr14:39716921delT	BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.1143delT	14.37:g.39716921delT	ENSP00000280082:p.Gly381fs					MIA2_uc010amy.1_Frame_Shift_Del_p.G312fs	p.G381fs	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)	4	1337	+	Hepatocellular(127;0.213)		381					A1L4H0|Q9H6C1	Frame_Shift_Del	DEL	ENST00000280082.3	37	c.1143delT	CCDS9672.1																																																																																				0.358	MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024		7	78	NA	NA	NA	NA	NA	7	78	---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30486668	30486668	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr16:30486668delG	ENST00000356798.6	+	3	386	c.206delG	c.(205-207)agcfs	p.S69fs	ITGAL_ENST00000358164.5_Frame_Shift_Del_p.S69fs|ITGAL_ENST00000454514.2_Frame_Shift_Del_p.S69fs|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	69					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	AGCACAGGAAGCCTCTATCAG	0.592																																					NSCLC(110;1462 1641 3311 33990 49495)	NSCLC(110;1462 1641 3311 33990 49495)	uc002dyi.3		NA																	0				ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10						c.(205-207)AGCfs		integrin alpha L isoform a precursor	Efalizumab(DB00095)						93.0	96.0	95.0					16																	30486668		2197	4300	6497	SO:0001589	frameshift_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30486668delG		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.206delG	16.37:g.30486668delG	ENSP00000349252:p.Ser69fs					ITGAL_uc010veu.1_RNA|ITGAL_uc002dyj.3_Frame_Shift_Del_p.S69fs|ITGAL_uc010vev.1_Intron	p.S69fs	NM_002209	NP_002200	P20701	ITAL_HUMAN			3	382	+			69			FG-GAP 1.|Extracellular (Potential).		O43746|Q45H73|Q96HB1|Q9UBC8	Frame_Shift_Del	DEL	ENST00000356798.6	37	c.206delG	CCDS32433.1																																																																																				0.592	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			14	150	NA	NA	NA	NA	NA	14	150	---	---	---	---
TOM1L1	10040	broad.mit.edu	37	17	52990037	52990038	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:52990037_52990038delTG	ENST00000575882.1	+	4	586_587	c.233_234delTG	c.(232-234)atgfs	p.M78fs	TOM1L1_ENST00000445275.2_Frame_Shift_Del_p.M78fs|TOM1L1_ENST00000536554.1_Start_Codon_Del|TOM1L1_ENST00000575333.1_Frame_Shift_Del_p.M78fs|TOM1L1_ENST00000572405.1_Frame_Shift_Del_p.M43fs|TOM1L1_ENST00000570371.1_Frame_Shift_Del_p.M78fs|TOM1L1_ENST00000348161.4_Start_Codon_Del|TOM1L1_ENST00000540336.1_Start_Codon_Del|TOM1L1_ENST00000572158.1_Intron	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	78	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						CTTATTGACATGTGTGTGCAGA	0.337																																							uc002iud.2		NA																	0				ovary(1)	1						c.(232-234)ATGfs		target of myb1-like 1																																				SO:0001589	frameshift_variant	10040				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	g.chr17:52990037_52990038delTG	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.233_234delTG	17.37:g.52990043_52990044delTG	ENSP00000460823:p.Met78fs					TOM1L1_uc002iub.2_Frame_Shift_Del_p.M43fs|TOM1L1_uc002iuc.2_Frame_Shift_Del_p.M78fs|TOM1L1_uc010dca.1_Frame_Shift_Del_p.M78fs|TOM1L1_uc010wnb.1_Intron|TOM1L1_uc010wnc.1_Frame_Shift_Del_p.M1fs|TOM1L1_uc010dbz.2_Frame_Shift_Del_p.M1fs|TOM1L1_uc010wnd.1_Frame_Shift_Del_p.M1fs|TOM1L1_uc010dcb.1_5'Flank	p.M78fs	NM_005486	NP_005477	O75674	TM1L1_HUMAN			4	408_409	+			78			VHS.		Q53G06|Q8N749	Frame_Shift_Del	DEL	ENST00000575882.1	37	c.233_234delTG	CCDS11582.1																																																																																				0.337	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486		15	71	NA	NA	NA	NA	NA	15	71	---	---	---	---
MPO	4353	broad.mit.edu	37	17	56350859	56350859	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:56350859delC	ENST00000225275.3	-	9	1713	c.1537delG	c.(1537-1539)gacfs	p.D513fs	MPO_ENST00000340482.3_Frame_Shift_Del_p.D545fs|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	513					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	TACCGATTGTCCAGGCGGAAC	0.592																																							uc002ivu.1		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1537-1539)GACfs		myeloperoxidase	Cefdinir(DB00535)						230.0	199.0	209.0					17																	56350859		2203	4300	6503	SO:0001589	frameshift_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56350859delC		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1537delG	17.37:g.56350859delC	ENSP00000225275:p.Asp513fs						p.D513fs	NM_000250	NP_000241	P05164	PERM_HUMAN			9	1714	-			513					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Frame_Shift_Del	DEL	ENST00000225275.3	37	c.1537delG	CCDS11604.1																																																																																				0.592	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			29	164	NA	NA	NA	NA	NA	29	164	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67303002	67303002	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr17:67303002delG	ENST00000392676.3	-	6	716	c.652delC	c.(652-654)cgafs	p.R218fs	ABCA5_ENST00000588877.1_Frame_Shift_Del_p.R218fs|ABCA5_ENST00000392677.2_Frame_Shift_Del_p.R218fs			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	218					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	ATTACTCCTCGGGGAAAGGTA	0.323																																							uc002jif.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(652-654)CGAfs		ATP-binding cassette, sub-family A , member 5							59.0	64.0	62.0					17																	67303002		2202	4297	6499	SO:0001589	frameshift_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67303002delG	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.652delC	17.37:g.67303002delG	ENSP00000376443:p.Arg218fs					ABCA5_uc002jig.2_Frame_Shift_Del_p.R218fs|ABCA5_uc002jih.2_Frame_Shift_Del_p.R218fs|ABCA5_uc010dfe.2_Frame_Shift_Del_p.R218fs	p.R218fs	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			5	1870	-	Breast(10;3.72e-11)		218					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Frame_Shift_Del	DEL	ENST00000392676.3	37	c.652delC	CCDS11685.1																																																																																				0.323	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		21	98	NA	NA	NA	NA	NA	21	98	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9071588	9071589	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:9071588_9071589insA	ENST00000397910.4	-	3	16060_16061	c.15857_15858insT	c.(15856-15858)ttgfs	p.L5286fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5288	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						TTGATGTGTCCAAGGGAAGGGT	0.525																																							uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(15856-15858)TTGfs		mucin 16																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071588_9071589insA	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.15858dupT	19.37:g.9071590_9071590dupA	ENSP00000381008:p.Leu5286fs						p.L5286fs	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	16061_16062	-			5288			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.15857_15858insT	CCDS54212.1																																																																																				0.525	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		20	85	NA	NA	NA	NA	NA	20	85	---	---	---	---
ZNF420	147923	broad.mit.edu	37	19	37618899	37618907	+	In_Frame_Del	DEL	GAATGTAAG	GAATGTAAG	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	GAATGTAAG	GAATGTAAG	-	-	GAATGTAAG	GAATGTAAG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:37618899_37618907delGAATGTAAG	ENST00000337995.3	+	5	1221_1229	c.1006_1014delGAATGTAAG	c.(1006-1014)gaatgtaagdel	p.ECK336del	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_In_Frame_Del_p.ECK336del|CTC-454I21.4_ENST00000587645.1_RNA	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAACCATATGAATGTAAGGAATGTGGAA	0.407																																							uc002ofl.2		NA																	0					0						c.(1006-1014)GAATGTAAGdel		zinc finger protein 420																																				SO:0001651	inframe_deletion	147923				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37618899_37618907delGAATGTAAG	AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1006_1014delGAATGTAAG	19.37:g.37618899_37618907delGAATGTAAG	ENSP00000338770:p.Glu336_Lys338del						p.ECK336del	NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1221_1229	+			336_338			C2H2-type 8.		B2RDY6|Q96ML5	In_Frame_Del	DEL	ENST00000337995.3	37	c.1006_1014delGAATGTAAG	CCDS12498.1																																																																																				0.407	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109587.3	NM_144689		7	103	NA	NA	NA	NA	NA	7	103	---	---	---	---
ZNF226	7769	broad.mit.edu	37	19	44680896	44680897	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr19:44680896_44680897delAG	ENST00000590089.1	+	7	1848_1849	c.1481_1482delAG	c.(1480-1482)cagfs	p.Q494fs	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Frame_Shift_Del_p.Q494fs|ZNF226_ENST00000337433.5_Frame_Shift_Del_p.Q494fs			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	494					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)						Prostate(69;0.0352)|all_neural(266;0.202)				CAAGCCCATCAGAGAGTCCACA	0.46																																					Pancreas(115;581 1665 13228 19278 50070)	Pancreas(115;581 1665 13228 19278 50070)	uc002oyp.2		NA																	0					0						c.(1480-1482)CAGfs		zinc finger protein 226 isoform a																																				SO:0001589	frameshift_variant	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44680896_44680897delAG	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1481_1482delAG	19.37:g.44680900_44680901delAG	ENSP00000465121:p.Gln494fs					ZNF226_uc002oyq.2_Frame_Shift_Del_p.Q377fs|ZNF226_uc002oyr.2_Frame_Shift_Del_p.Q377fs|ZNF226_uc010ejg.2_3'UTR|ZNF226_uc002oys.2_Frame_Shift_Del_p.Q494fs|ZNF226_uc002oyt.2_Frame_Shift_Del_p.Q494fs	p.Q494fs	NM_001032373	NP_001027545	Q9NYT6	ZN226_HUMAN			6	1625_1626	+		Prostate(69;0.0352)|all_neural(266;0.202)	494			C2H2-type 9.		Q8WWE6|Q96TE6|Q9NS44	Frame_Shift_Del	DEL	ENST00000590089.1	37	c.1481_1482delAG	CCDS46102.1																																																																																				0.460	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			9	114	NA	NA	NA	NA	NA	9	114	---	---	---	---
KIDINS220	57498	broad.mit.edu	37	2	8928836	8928836	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:8928836delT	ENST00000256707.3	-	15	1909	c.1728delA	c.(1726-1728)aaafs	p.K576fs	KIDINS220_ENST00000319688.5_Frame_Shift_Del_p.K577fs|KIDINS220_ENST00000427284.1_Frame_Shift_Del_p.K576fs|KIDINS220_ENST00000473731.1_Frame_Shift_Del_p.K576fs|KIDINS220_ENST00000418530.1_Frame_Shift_Del_p.K534fs	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	576	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAAACATCAATTTAAGGAGGA	0.423																																							uc002qzc.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1726-1728)AAAfs		kinase D-interacting substrate of 220 kDa							126.0	118.0	120.0					2																	8928836		1875	4108	5983	SO:0001589	frameshift_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8928836delT	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1728delA	2.37:g.8928836delT	ENSP00000256707:p.Lys576fs					KIDINS220_uc010yiv.1_Frame_Shift_Del_p.K342fs|KIDINS220_uc002qzd.2_Frame_Shift_Del_p.K534fs|KIDINS220_uc010yiw.1_Frame_Shift_Del_p.K577fs	p.K576fs	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			15	1910	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		576			Cytoplasmic (Potential).|KAP NTPase.		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Frame_Shift_Del	DEL	ENST00000256707.3	37	c.1728delA	CCDS42650.1																																																																																				0.423	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		12	92	NA	NA	NA	NA	NA	12	92	---	---	---	---
KIF3C	3797	broad.mit.edu	37	2	26203366	26203368	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	GCT	GCT	-	-	GCT	GCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:26203366_26203368delGCT	ENST00000264712.3	-	1	1998_2000	c.1419_1421delAGC	c.(1417-1422)gcagcc>gcc	p.473_474AA>A	KIF3C_ENST00000405914.1_In_Frame_Del_p.473_474AA>A	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	473					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCTGGATGGCTGCCTTCTCCT	0.611																																							uc002rgu.2		NA																	0				ovary(3)|skin(1)	4						c.(1417-1422)GCAGCC>GCC		kinesin family member 3C																																				SO:0001651	inframe_deletion	3797				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:26203366_26203368delGCT		CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1419_1421delAGC	2.37:g.26203366_26203368delGCT	ENSP00000264712:p.Ala474del					KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_In_Frame_Del_p.473_474AA>A	p.473_474AA>A	NM_002254	NP_002245	O14782	KIF3C_HUMAN			1	2076_2078	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		473_474			Potential.		O43544|Q4ZG18|Q53SX5|Q562F7	In_Frame_Del	DEL	ENST00000264712.3	37	c.1419_1421delAGC	CCDS1719.1																																																																																				0.611	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211611.1			8	110	NA	NA	NA	NA	NA	8	110	---	---	---	---
KIAA1841	84542	broad.mit.edu	37	2	61304276	61304276	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:61304276delG	ENST00000402291.1	+	6	894	c.653delG	c.(652-654)tgtfs	p.C218fs	KIAA1841_ENST00000453873.1_Frame_Shift_Del_p.C218fs|KIAA1841_ENST00000356719.2_Frame_Shift_Del_p.C218fs|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000295031.5_Frame_Shift_Del_p.C218fs	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	218										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AATAAAGATTGTGAGATGCCC	0.378																																							uc002saw.3		NA																	0					0						c.(652-654)TGTfs		KIAA1841 protein isoform a							76.0	82.0	80.0					2																	61304276		2203	4300	6503	SO:0001589	frameshift_variant	84542							g.chr2:61304276delG	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.653delG	2.37:g.61304276delG	ENSP00000385579:p.Cys218fs					KIAA1841_uc002sax.3_Frame_Shift_Del_p.C72fs|KIAA1841_uc002say.2_Frame_Shift_Del_p.C218fs|KIAA1841_uc002sav.3_Frame_Shift_Del_p.C218fs	p.C218fs	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		6	956	+			218					Q49AF0|Q6ZND0|Q96JI6	Frame_Shift_Del	DEL	ENST00000402291.1	37	c.653delG	CCDS46296.1																																																																																				0.378	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	NM_032506		29	105	NA	NA	NA	NA	NA	29	105	---	---	---	---
RAB11FIP5	26056	broad.mit.edu	37	2	73315269	73315269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:73315269delC	ENST00000258098.6	-	3	1717	c.1477delG	c.(1477-1479)gccfs	p.A493fs	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	493					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TGTGGGGAGGCCCCCAGGATG	0.607																																							uc002siu.3		NA																	0					0						c.(1477-1479)GCCfs		RAB11 family interacting protein 5 (class I)							69.0	74.0	72.0					2																	73315269		2203	4300	6503	SO:0001589	frameshift_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73315269delC	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1477delG	2.37:g.73315269delC	ENSP00000258098:p.Ala493fs					RAB11FIP5_uc002sit.3_Frame_Shift_Del_p.A415fs	p.A493fs	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			3	1718	-			493					O94939|Q9P0M1	Frame_Shift_Del	DEL	ENST00000258098.6	37	c.1477delG	CCDS1923.1																																																																																				0.607	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		39	113	NA	NA	NA	NA	NA	39	113	---	---	---	---
POLR1B	84172	broad.mit.edu	37	2	113305054	113305055	+	Frame_Shift_Ins	INS	-	-	G			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:113305054_113305055insG	ENST00000263331.5	+	3	982_983	c.402_403insG	c.(403-405)ggcfs	p.G135fs	POLR1B_ENST00000541869.1_Frame_Shift_Ins_p.G173fs|POLR1B_ENST00000417433.2_Frame_Shift_Ins_p.G79fs|POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000409894.3_Frame_Shift_Ins_p.G135fs	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	135					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AGCAGTTTCTTGGCTATGTTCC	0.426																																					Ovarian(16;256 576 9537 23969 41147)	Ovarian(16;256 576 9537 23969 41147)	uc002thw.2		NA																	0				ovary(1)	1						c.(400-405)CTTGGCfs		RNA polymerase I polypeptide B isoform 1																																				SO:0001589	frameshift_variant	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113305054_113305055insG	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.404dupG	2.37:g.113305056_113305056dupG	ENSP00000263331:p.Gly135fs					POLR1B_uc010fkn.2_Frame_Shift_Ins_p.L78fs|POLR1B_uc002thx.2_5'UTR|POLR1B_uc010fko.2_Frame_Shift_Ins_p.L134fs|POLR1B_uc010fkp.2_Intron|POLR1B_uc010yxn.1_Frame_Shift_Ins_p.L172fs|POLR1B_uc002thy.2_5'UTR|POLR1B_uc010yxo.1_Intron	p.L134fs	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN			3	982_983	+			134_135					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Frame_Shift_Ins	INS	ENST00000263331.5	37	c.402_403insG	CCDS2097.1																																																																																				0.426	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		7	108	NA	NA	NA	NA	NA	7	108	---	---	---	---
UGGT1	56886	broad.mit.edu	37	2	128936041	128936041	+	Splice_Site	DEL	G	G	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:128936041delG	ENST00000259253.6	+	34	3760		c.e34-1		UGGT1_ENST00000375990.3_Splice_Site	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1						'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TATTGTTATAGGGGCTTTACA	0.398																																							uc002tps.2		NA																	0				ovary(1)	1						c.e34-1		UDP-glucose ceramide glucosyltransferase-like 1							125.0	133.0	130.0					2																	128936041		2203	4299	6502	SO:0001630	splice_region_variant	56886				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	g.chr2:128936041delG	AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.3714-1G>-	2.37:g.128936041delG						UGGT1_uc002tpr.2_Splice_Site_p.W1214_splice	p.W1238_splice	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN			34	3892	+								Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Splice_Site	DEL	ENST00000259253.6	37	c.3714_splice	CCDS2154.1																																																																																				0.398	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	Intron	19	125	NA	NA	NA	NA	NA	19	125	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179528792	179528792	+	Intron	DEL	T	T	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:179528792delT	ENST00000591111.1	-	154	34489				TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.K12106fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			CGACACTTTCTTTTCAGGGAT	0.383																																							uc010zfk.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.(751-753)AAGfs		SubName: Full=Titin; Flags: Fragment;							115.0	111.0	112.0					2																	179528792		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179528792delT	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.34265-5271A>-	2.37:g.179528792delT						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.K251fs			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		14	1300	-			11463					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	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.752delA																																																																																					0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	157	NA	NA	NA	NA	NA	9	157	---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211457611	211457611	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr2:211457611delG	ENST00000233072.5	+	11	1291	c.1095delG	c.(1093-1095)atgfs	p.M365fs	CPS1_ENST00000430249.2_Frame_Shift_Del_p.M371fs|CPS1_ENST00000451903.2_5'Flank	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	365	Glutamine amidotransferase type-1.				anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	AGGGGATTATGCATGAGAGCA	0.423																																							uc002vee.3		NA																	0				ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13						c.(1093-1095)ATGfs		carbamoyl-phosphate synthetase 1 isoform b							131.0	139.0	137.0					2																	211457611		2203	4300	6503	SO:0001589	frameshift_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211457611delG	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1095delG	2.37:g.211457611delG	ENSP00000233072:p.Met365fs					CPS1_uc010fur.2_Frame_Shift_Del_p.M371fs|CPS1_uc010fus.2_5'Flank	p.M365fs	NM_001875	NP_001866	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	11	1227	+			365			Glutamine amidotransferase type-1.		B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Frame_Shift_Del	DEL	ENST00000233072.5	37	c.1095delG	CCDS2393.1																																																																																				0.423	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			27	125	NA	NA	NA	NA	NA	27	125	---	---	---	---
TRMT2A	27037	broad.mit.edu	37	22	20104493	20104511	+	5'UTR	DEL	GGCCTGTCACAAGGGAAGT	GGCCTGTCACAAGGGAAGT	-	rs564262685|rs562025555|rs542262652|rs11544956	byFrequency	TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	GGCCTGTCACAAGGGAAGT	GGCCTGTCACAAGGGAAGT	-	-	GGCCTGTCACAAGGGAAGT	GGCCTGTCACAAGGGAAGT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr22:20104493_20104511delGGCCTGTCACAAGGGAAGT	ENST00000252136.7	-	0	307_325				TRMT2A_ENST00000403707.3_5'UTR|RANBP1_ENST00000430524.1_Intron|RANBP1_ENST00000331821.3_5'Flank|TRMT2A_ENST00000439169.2_5'UTR|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000492988.1_5'Flank|TRMT2A_ENST00000404751.3_5'UTR	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)						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						CCTCGTCCTGGGCCTGTCACAAGGGAAGTGGCCTGTCAC	0.699														41	0.0081869	0.0008	0.0115	5008	,	,		14859	0.0		0.0219	False		,,,				2504	0.0102						uc002zrk.1		NA																	0				breast(1)	1						c.e2-1		HpaII tiny fragments locus 9C			,	13,4095		0,13,2041					,	-1.6	0.0			22	95,7935		8,79,3928	no	splice-3,utr-5	TRMT2A	NM_182984.3,NM_022727.4	,	8,92,5969	A1A1,A1R,RR		1.1831,0.3165,0.8898	,	,		108,12030				SO:0001623	5_prime_UTR_variant	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20104493_20104511delGGCCTGTCACAAGGGAAGT	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.-82ACTTCCCTTGTGACAGGCC>-	22.37:g.20104493_20104511delGGCCTGTCACAAGGGAAGT						TRMT2A_uc002zrl.1_5'UTR|TRMT2A_uc002zrm.1_5'UTR|TRMT2A_uc002zrn.1_5'UTR|TRMT2A_uc011ahk.1_5'UTR|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank		NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN			2	150	-								D3DX25|Q32P57|Q96ME6|Q9H732	Splice_Site	DEL	ENST00000252136.7	37	c.-65_splice	CCDS13774.1																																																																																				0.699	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		3	4	NA	NA	NA	NA	NA	3	4	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55948769	55948769	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr4:55948769delC	ENST00000263923.4	-	28	3991	c.3696delG	c.(3694-3696)cggfs	p.R1232fs	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1232					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)	CACTCACAGGCCGGCTCTTTC	0.358			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.(3694-3696)CGGfs		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						142.0	141.0	141.0					4																	55948769		2203	4300	6503	SO:0001589	frameshift_variant	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.chr4:55948769delC	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.3696delG	4.37:g.55948769delC	ENSP00000263923:p.Arg1232fs	TSP Lung(20;0.16)				KDR_uc003hat.1_Frame_Shift_Del_p.R1232fs	p.R1232fs	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		28	3998	-	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)		1232			Cytoplasmic (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Frame_Shift_Del	DEL	ENST00000263923.4	37	c.3696delG	CCDS3497.1																																																																																				0.358	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			20	99	NA	NA	NA	NA	NA	20	99	---	---	---	---
ZDHHC11	79844	broad.mit.edu	37	5	814880	814881	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:814880_814881delGT	ENST00000283441.8	-	11	1559_1560	c.1176_1177delAC	c.(1174-1179)acacttfs	p.L393fs	ZDHHC11_ENST00000424784.2_Frame_Shift_Del_p.L393fs|ZDHHC11_ENST00000503758.2_5'UTR	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	393						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			ACTTACCCAAGTGTAGATATAC	0.376																																							uc011cma.1		NA																	0				skin(1)|pancreas(1)	2						c.(1174-1179)ACACTTfs		zinc finger, DHHC-type containing 11																																				SO:0001589	frameshift_variant	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:814880_814881delGT	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.1176_1177delAC	5.37:g.814882_814883delGT	ENSP00000283441:p.Leu393fs					ZDHHC11_uc010itc.2_RNA|ZDHHC11_uc003jbj.2_RNA	p.T392fs	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		11	1560_1561	-			392_393					Q6UWR9	Frame_Shift_Del	DEL	ENST00000283441.8	37	c.1176_1177delAC	CCDS3857.1																																																																																				0.376	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		28	69	NA	NA	NA	NA	NA	28	69	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24487964	24487964	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr5:24487964delG	ENST00000264463.4	-	12	2682	c.2175delC	c.(2173-2175)cccfs	p.P725fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	725					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)		GGGGTGCGGTGGGGTCAAGAT	0.458										HNSCC(23;0.051)																													uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(2173-2175)CCCfs		cadherin 10, type 2 preproprotein							103.0	107.0	106.0					5																	24487964		2203	4300	6503	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24487964delG	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.2175delC	5.37:g.24487964delG	ENSP00000264463:p.Pro725fs	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.P725fs	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2507	-			725			Cytoplasmic (Potential).		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.2175delC	CCDS3892.1																																																																																				0.458	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		13	153	NA	NA	NA	NA	NA	13	153	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157528151	157528152	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr6:157528151_157528152insT	ENST00000350026.5	+	19	5838_5839	c.5837_5838insT	c.(5836-5841)cctggcfs	p.G1947fs	ARID1B_ENST00000367148.1_Frame_Shift_Ins_p.G2000fs|ARID1B_ENST00000275248.4_Frame_Shift_Ins_p.G1942fs|ARID1B_ENST00000346085.5_Frame_Shift_Ins_p.G1960fs	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1947					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCATTCGTGCCTGGCAATGATG	0.55																																							uc003qqn.2		NA																	0				ovary(1)|breast(1)	2						c.(5821-5823)CCTfs		AT rich interactive domain 1B (SWI1-like)																																				SO:0001589	frameshift_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528151_157528152insT	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5838dupT	6.37:g.157528152_157528152dupT	ENSP00000055163:p.Gly1947fs					ARID1B_uc003qqo.2_Frame_Shift_Ins_p.P1901fs|ARID1B_uc003qqp.2_Frame_Shift_Ins_p.P1888fs	p.P1941fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	5974_5975	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1946					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Frame_Shift_Ins	INS	ENST00000350026.5	37	c.5822_5823insT	CCDS5251.2																																																																																				0.550	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		31	184	NA	NA	NA	NA	NA	31	184	---	---	---	---
XKR6	286046	broad.mit.edu	37	8	10755642	10755642	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4424-01A-22D-1855-08	TCGA-05-4424-10A-01D-1855-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fc500ff5-24c8-4965-94da-b4afafafe2dd	e785fabf-7b0f-49cd-a423-0c6372147f9b	g.chr8:10755642delC	ENST00000416569.2	-	3	1772	c.1746delG	c.(1744-1746)gggfs	p.G582fs	XKR6_ENST00000304437.2_Frame_Shift_Del_p.G303fs	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	582						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)		TAATGAGGGGCCCTTCTGGGA	0.512																																							uc003wtk.1		NA																	0				ovary(1)|skin(1)	2						c.(1744-1746)GGGfs		XK, Kell blood group complex subunit-related							60.0	60.0	60.0					8																	10755642		2203	4300	6503	SO:0001589	frameshift_variant	286046					integral to membrane		g.chr8:10755642delC	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.1746delG	8.37:g.10755642delC	ENSP00000416707:p.Gly582fs						p.G582fs	NM_173683	NP_775954	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	3	1773	-			582					Q8TBA0	Frame_Shift_Del	DEL	ENST00000416569.2	37	c.1746delG	CCDS5978.2																																																																																				0.512	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		20	77	NA	NA	NA	NA	NA	20	77	---	---	---	---
